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Sökning: WFRF:(Lilja Helene Engstrand)

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1.
  • Engstrand Lilja, Helene, 1963-, et al. (författare)
  • Intestinal dysbiosis in children with short bowel syndrome is associated with impaired outcome
  • 2015
  • Ingår i: Microbiome. - : Springer Science and Business Media LLC. - 2049-2618. ; 3
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: The composition of the intestinal microbiota seems to be an important factor in determining the clinical outcome in children with short bowel syndrome (SBS). Alterations in the microbiota may result in serious complications such as small bowel bacterial overgrowth (SBBO) and intestinal mucosal inflammation that lead to prolonged parenteral nutrition (PN) dependency with subsequently increased risk of liver failure and sepsis. To date, there are no reported mappings of the intestinal microbiome in children with SBS. Here, we present the first report on the intestinal microbial community profile in children with SBS. Findings: The study includes children diagnosed with SBS in the neonatal period. Healthy siblings served as controls. Fecal samples were collected, and microbial profiles were analyzed by using 16S rRNA gene sequencing on the Illumina MiSeq platform. We observed a pronounced microbial dysbiosis in children with SBS on PN treatment with an increased and totally dominating relative abundance of Enterobacteriacae in four out of five children compared to children with SBS weaned from PN and healthy siblings. Conclusions: The overall decreased bacterial diversity in children with SBS is consistent with intestinal microbiome mappings in inflammatory bowel diseases such as Crohn's disease and necrotizing enterocolitis in preterm infants. Our findings indicate that intestinal dysbiosis in children with SBS is associated with prolonged PN dependency.
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2.
  • Fredriksson, Fanny, 1985-, et al. (författare)
  • Improved Outcome of Intestinal Failure in Preterm Infants
  • 2020
  • Ingår i: Journal of Pediatric Gastroenterology and Nutrition - JPGN. - : Wolters Kluwer. - 0277-2116 .- 1536-4801. ; 71:2, s. 223-231
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: The aims were to evaluate the outcome and to identify predictors for survival and enteral autonomy in neonatal intestinal failure (IF).METHODS: A retrospective observational study in a Swedish tertiary centre of children born between 1995 and 2016 with neonatal IF, defined as dependency on parenteral nutrition (PN) ≥60 days, starting with PN before the age of 44 gestational weeks. Data were extracted from medical records and predictors for survival and enteral autonomy were identified by the Cox regression model. Time to death and weaning off PN analysis were performed with Kaplan-Meier curves including log rank test.RESULTS: In total, 105 children were included. Median gestational age was 28 weeks (22-42), 50% were born extremely preterm (<28 gestational weeks). PN started at a median age of two days (0-147) with a median duration of 196 days (60-3091). Necrotising enterocolitis was the dominating cause of IF (61%). Overall survival was 88%, five children died of sepsis and four of intestinal failure-associated liver disease. Survival increased from 75% during 1995-2008 to 96% during 2009-2016 (p = 0.0040). Age-adjusted small bowel length of >50% and birth 2009-2016 were predictors for survival. Enteral autonomy was achieved in 87%, with positive prediction by small bowel length of >25% of expected for gestational age and remaining ileocaecal valve.CONCLUSION: Preterm neonates with IF, at high risk of IF associated morbidity, showed a high overall survival rate. Small-bowel length and being born 2009-2016 were predictors for survival and remaining ICV and small-bowel length were predictors for enteral autonomy.
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3.
  • Fredriksson, Fanny, 1985-, et al. (författare)
  • Sutures impregnated with carbazate-activated polyvinyl alcohol reduce intraperitoneal adhesions
  • 2017
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 52:11, s. 1853-1858
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Intraperitoneal adhesions cause significant morbidity. They occur after peritoneal trauma, which induces oxidative stress with production of inflammatory cytokines, peroxidized proteins (carbonyls) and lipids (aldehydes). This study aimed to investigate if carbazate-activated polyvinyl alcohol (PVAC), an aldehyde-carbonyl inhibitor, can reduce intraperitoneal adhesions in an experimental model.Material and methods: Male Sprague-Dawley rats (n = 110) underwent laparotomy, cecal abrasion and construction of a small bowel anastomosis. They either were treated with intraperitoneal instillation of PVAC or were sutured with PVAC-impregnated sutures. Thromboelastography analysis was performed using human blood and PVAC. The lipid peroxidation product malondialdehyde (MDA) and inflammatory cytokines IL-1 beta and IL-6 were quantified in peritoneal fluid. At day 7, bursting pressure of the anastomosis was measured and adhesions were blindly scored.Results: PVAC in human blood decreased the production of the fibrin-thrombocyte mesh without affecting the coagulation cascade. MDA, IL-1 beta and IL-6 were increased after 6 h without significant difference between the groups. PVAC-impregnated sutures reduced intraperitoneal adhesions compared to controls (p = 0.0406) while intraperitoneal instillation of PVAC had no effect. Anastomotic bursting pressure was unchanged.Conclusions: Intervention with an aldehyde-carbonyl inhibitor locally in the wound by PVAC-impregnated sutures might be a new strategy to reduce intraperitoneal adhesions.
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4.
  • Normann, Erik, et al. (författare)
  • Intestinal microbial profiles in extremely preterm infants with and without necrotizing enterocolitis
  • 2013
  • Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 102:2, s. 129-136
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim Necrotizing enterocolitis (NEC) represents one of the gravest complications in premature infants. The suggested role of intestinal microbiota in the development of NEC needs to be elucidated. Methods This prospective single-centre casecontrol study applied barcoded pyrosequencing to map the bacterial composition of faecal samples from extremely preterm infants. Ten patients were diagnosed with NEC and matched to healthy controls with regard to sex, gestational age and mode of delivery prior to analysis of the samples. Results Enterococcus, Bacillales and Enterobacteriaceae dominated the flora. Although not statistically significant, a high relative abundance of Bacillales and Enterobacteriaceae was detected at early time points in patients developing NEC, while healthy controls had a microbiota more dominated by Enterococcus. A low diversity of intestinal microbial flora was found without any differences between NEC patients and controls. In 16 healthy controls, Firmicutes (Enterococcus and Bacillales) dominated the faecal flora during the first weeks after birth and were then succeeded by Enterobacteriaceae. Conclusion No significant differences in the composition of intestinal microbiota of patients developing NEC were detected; however, some findings need to be scrutinized in subsequent studies.
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5.
  • Pammi, Mohan, et al. (författare)
  • Intestinal dysbiosis in preterm infants preceding necrotizing enterocolitis : a systematic review and meta-analysis
  • 2017
  • Ingår i: Microbiome. - : BIOMED CENTRAL LTD. - 2049-2618. ; 5
  • Forskningsöversikt (refereegranskat)abstract
    • Background: Necrotizing enterocolitis (NEC) is a catastrophic disease of preterm infants, and microbial dysbiosis has been implicated in its pathogenesis. Studies evaluating the microbiome in NEC and preterm infants lack power and have reported inconsistent results. Methods and results: Our objectives were to perform a systematic review and meta-analyses of stool microbiome profiles in preterm infants to discern and describe microbial dysbiosis prior to the onset of NEC and to explore heterogeneity among studies. We searched MEDLINE, PubMed, CINAHL, and conference abstracts from the proceedings of Pediatric Academic Societies and reference lists of relevant identified articles in April 2016. Studies comparing the intestinal microbiome in preterm infants who developed NEC to those of controls, using cultureindependent molecular techniques and reported a and beta-diversity metrics, and microbial profiles were included. In addition, 16S ribosomal ribonucleic acid (rRNA) sequence data with clinical meta-data were requested from the authors of included studies or searched in public data repositories. We reprocessed the 16S rRNA sequence data through a uniform analysis pipeline, which were then synthesized by meta-analysis. We included 14 studies in this review, and data from eight studies were available for quantitative synthesis (106 NEC cases, 278 controls, 2944 samples). The age of NEC onset was at a mean +/- SD of 30.1 +/- 2.4 weeks post-conception (n = 61). Fecal microbiome from preterm infants with NEC had increased relative abundances of Proteobacteria and decreased relative abundances of Firmicutes and Bacteroidetes prior to NEC onset. Alpha-or beta-diversity indices in preterm infants with NEC were not consistently different from controls, but we found differences in taxonomic profiles related to antibiotic exposure, formula feeding, and mode of delivery. Exploring heterogeneity revealed differences in microbial profiles by study and the target region of the 16S rRNA gene (V1-V3 or V3-V5). Conclusions: Microbial dysbiosis preceding NEC in preterm infants is characterized by increased relative abundances of Proteobacteria and decreased relative abundances of Firmicutes and Bacteroidetes. Microbiome optimization may provide a novel strategy for preventing NEC.
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6.
  • Stenström, Pernilla, et al. (författare)
  • Total colonic aganglionosis: : a multicenter study of surgical treatment and patient-reported outcomes up to adulthood
  • 2020
  • Ingår i: BJS Open. - : Oxford University Press (OUP). - 2474-9842. ; 4:5, s. 943-953
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Surgery for total colonic aganglionosis (TCA) is designed to preserve continence and achieve satisfactory quality of life. This study evaluated a comprehensive group of clinical and social outcomes.Methods: An international multicentre study from eight Nordic hospitals involving examination of case records and a patient-reported questionnaire survey of all patients born with TCA between 1987 and 2006 was undertaken.Results: Of a total of 116 patients, five (4 center dot 3 per cent) had died and 102 were traced. Over a median follow-up of 12 (range 0 center dot 3-33) years, bowel continuity was established in 75 (73 center dot 5 per cent) at a median age of 11 (0 center dot 5-156) months. Mucosectomy with a short muscular cuff and straight ileoanal anastomosis (SIAA) (29 patients) or with aJpouch (JIAA) (26) were the most common reconstructions (55 of 72, 76 per cent). Major early postoperative complications requiring surgical intervention were observed in four (6 per cent) of the 72 patients. In 57 children aged over 4 years, long-term functional bowel symptoms after reconstruction included difficulties in holding back defaecation in 22 (39 per cent), more than one faecal accident per week in nine (16 per cent), increased frequency of defaecation in 51 (89 per cent), and social restrictions due to bowel symptoms in 35 (61 per cent). Enterocolitis occurred in 35 (47 per cent) of 72 patients. Supplementary enteral and/or parenteral nutrition was required by 51 (55 per cent) of 93 patients at any time during follow-up. Of 56 responders aged 2-20 years, true low BMI for age was found in 20 (36 per cent) and 13 (23 per cent) were short for age.Conclusion: Reconstruction for TCA was associated with persistent bowel symptoms, and enterocolitis remained common. Multidisciplinary follow-up, including continuity of care in adulthood, might improve care standards in patients with TCA.
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7.
  • Al-Mashhadi, Ammar Nadhom Farman, et al. (författare)
  • Rhabdomyomatous mesenchymal hamartoma presenting in a child as a perineal mass
  • 2019
  • Ingår i: Journal of Pediatric Surgery Case Reports. - : ELSEVIER. - 2213-5766. ; 47
  • Tidskriftsartikel (refereegranskat)abstract
    • Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare hamartomatous lesion in the dermis and subcutaneous tissue. It is mostly found in the face and neck region of children. We report a case of solitary RMH located in the perineum of an 8-month-old boy. Microscopic examination of specimen showed a disordered collection of mature adipose tissue, skeletal muscle, adnexal elements and nerve bundles, and immunohistochemistry confirmed a RMH. This case emphasizes the possibility of RMH in the perineum of the children. Even if RMH is a rare condition in the perineum it should be considered as a differential diagnosis of a perineal mass in children.
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8.
  • Andersson, Björn, et al. (författare)
  • Vascular adhesion protein-1 expression is reduced in the intestines of infants with necrotizing enterocolitis : an observational research study
  • 2022
  • Ingår i: BMC Pediatrics. - : Springer Nature. - 1471-2431. ; 22
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Necrotizing enterocolitis (NEC) is an inflammatory bowel disease in preterm neonates with high morbidity and mortality. The only treatment available is supportive with broad-spectrum antibiotics and gastrointestinal rest. Better understanding of the pathogenesis is crucial for the development of new therapies. Vascular adhesion protein-1 (VAP-1), expressed in human blood vessels and lymphatic, plays a crucial role in the pathogenesis of inflammatory diseases in adults. The aim of the study was to investigate the VAP-1 expression in the intestines of infants affected by NEC.Methods: Intestinal tissues from 42 preterm infants with NEC were examined with immunohistochemical staining using antibodies against VAP-1 and semi-automated digital image analysis was performed to determine tissue protein expression of VAP-1 in blood vessels located in the submucosa. Intestinal tissue from 26 neonates that underwent laparotomy and ileostomy due to other intestinal surgical conditions served as controls. Clinical data and protein expression were compared between the NEC-group and Controls.Results: Mean gestational age was lower in NEC infants compared to controls, 26.6 +/- 3.0 gestational weeks versus 36.5 +/- 4.0 (p < 0.001) but without any significant difference in median postnatal age at surgery; for NEC 8 (5-27) days and for controls 3 (1-36) days (p = 0.6). Low VAP-1 correlated with increased risk for developing NEC in the logistic regression (p < 0.001). Multiple linear regression showed that both gestational age and NEC were independent predictors of VAP-1 expression.Conclusion: VAP-1 may play a role in the pathogenesis of NEC. Diminished expression of VAP-1 independent of maturation could indicate arrested vascular development in infants suffering from NEC. Further studies are needed to elucidate the role of VAP-1 in NEC.
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9.
  • Angsten, Gertrud, et al. (författare)
  • Improved outcome in neonatal short bowel syndrome using parenteral fish oil in combination With ω-6/9 Lipid Emulsions
  • 2012
  • Ingår i: JPEN - Journal of Parenteral and Enteral Nutrition. - : Wiley. - 0148-6071 .- 1941-2444. ; 36:5, s. 587-595
  • Tidskriftsartikel (refereegranskat)abstract
    • Background:Newborn infants with short bowel syndrome (SBS) represent a high risk group of developing intestinal failure-associated liver disease (IFALD) which may be fatal. However, infants have a great capacity for intestinal growth and adaptation if IFALD can be prevented or reversed. A major contributing factor to IFALD may be the soybean oil-based intravenous lipid emulsions used since the introduction of parenteral nutrition (PN) 40 years ago. Methods:This retrospective study compares the outcome in 20 neonates with SBS treated with parenteral fish oil (Omegaven) in combination with omega-6/9 lipid emulsions (ClinOleic) with the outcome in a historical cohort of 18 patients with SBS who received a soybean oil-based intravenous lipid emulsion (Intralipid).Results:Median gestational age was 26 weeks in the treatment group and 35.5 weeks in the historical group. All patients were started on PN containing Intralipid that was switched to ClinOleic/Omegaven in the treatment group at a median age of 39 gestational weeks. In the treatment group, direct bilirubin levels were reversed in all 14 survivors with cholestasis (direct bilirubin >50 umol/). Median time to reversal was 2.9 months. Only 2 patients died of liver failure (10%).  In the historical cohort, 6 patients (33%) died of liver failure and only 2 patients showed normalization of bilirubin levels.Conclusions:Parenteral fish oil in combination with omega-6/9 lipid emulsions was associated with improved outcome in premature neonates with SBS. When used instead of traditional soybean-based emulsions, this mixed lipid emulsion may facilitate intestinal adaptation by increasing the IFALD-free period.
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10.
  • Angsten, Gertrud, et al. (författare)
  • Outcome of laparoscopic versus open gastrostomy in children
  • 2015
  • Ingår i: Pediatric surgery international (Print). - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 31:11, s. 1067-1072
  • Tidskriftsartikel (refereegranskat)abstract
    • Laparoscopic gastrostomy (LAPG) has gained popularity in children. The aim of this study was to compare the outcome of LAPG versus open gastrostomy (OG) in children with focus on complications, operative times and postoperative length of stay. Retrospective study of children who had gastrostomies inserted at our tertiary Pediatric Surgery Center from 2000 until 2013. The indications for a gastrostomy were an anticipated need for enteral support for at least 6 months. Totally 243 children were included in the study, 83 with LAPG and 160 with OG. We found a significant difference in postoperative length of stay, 3 days in the LAPG group versus 4 days in the OG group but no difference in a sub-group analysis from 2010 to 2013 when both techniques were used. There was no difference in median operative time or complications rates. Granuloma was the dominating complication in both groups. These two feeding-access techniques are comparable regarding complications, operative times and postoperative length of stay. The choice of surgical method should be individualized based on the patient's characteristics and the experience of the surgeon. The favorable results with LAPG in adults are not necessarily transferable to children since there are physiological and anatomical differences.
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11.
  • Arana Håkanson, Cecilia, et al. (författare)
  • Adhesive small bowel obstruction after appendectomy in children : Laparoscopic versus open approach
  • 2020
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 55:11, s. 2419-2424
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundThe aims of this study were to compare the incidence of small bowel obstruction (SBO) requiring laparotomy after laparoscopic appendectomy (LA) and open appendectomy (OA) in children and to identify risk factors for SBO.MethodsMedical records of patients who underwent appendectomy from 2000 to 2014 at our department of Pediatric Surgery were reviewed. Risk factors were analyzed using Cox proportional hazard regression.ResultsTotally 619 out of 840 patients were included. OA was performed in 474 (76.6%), LA in 130 patients (21%), and 15 (2.4%) were converted from LA to OA. Age, sex and proportion of perforated appendicitis were comparable in the LA and OA groups. Median follow-up time was 11.4 years (2.6–18.4). The incidence of SBO after LA was 1.5%, after OA 1.9% and in the converted group 6.7% (p = 0.3650). There were no significant differences in the incidence of postoperative intraabdominal abscess, wound infection or length of stay between LA and OA. Perforation and postoperative intra-abdominal abscess were identified as risk factors with 9.03 (p < 0.001) and 6.98 (p = 0.004) times higher risk of SBO, respectively.ConclusionsThe risk for SBO after appendectomy in children was significantly related to perforated appendicitis and postoperative intra-abdominal abscess and not to the surgical approach.Level of EvidenceLevel III.
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12.
  • Arana Håkanson, Cecilia, et al. (författare)
  • Attention deficit hyperactivity disorder and educational level in adolescent and adult individuals after anesthesia and abdominal surgery during infancy
  • 2020
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 15:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Several studies in animal models have found that exposure to anesthetics in early life can cause cognitive dysfunction. Human studies show conflicting results and studies of cognitive function after anesthesia and neonatal surgery are scarce. The aim of this study was to investigate whether exposure to anesthesia and abdominal surgery during infancy was associated with cognitive dysfunction from the perspective of educational level, disposable income and attention deficit hyperactivity disorders (ADHD) in adolescent and adult individuals.Methods: A cohort study with patients born 1976 to 2002 that underwent abdominal surgery during infancy at a pediatric surgical center were matched by age, sex, and gestational age to ten randomly selected individuals from the Swedish Medical Birth Register. Individuals with chromosomal aberrations were excluded. Data on highest level of education and annual disposable income were attained from Statistics Sweden and the diagnosis of ADHD were retrieved from the Swedish National Patient Register.Results: 485 individuals and 4835 controls were included. Median gestational age was 38 weeks (24-44) and median age at surgery was seven days (0-365). Three hundred sixty-six individuals (70.0%) underwent surgery during the neonatal period (< 44 gestational weeks). Median operating time was 80 minutes (10-430). The mean age at follow-up was 28 years. Fisher's exact test for highest level of education for the exposed and unexposed groups were respectively: university 35% and 33%, upper secondary 44% and 47%, compulsory 21% and 20% (p = 0.6718). The median disposable income was 177.7 versus 180.9 TSEK respectively (p = 0.7532). Exposed individuals had a prevalence of ADHD of 5.2% and unexposed 4.4% (p = 0.4191).Conclusions: This study shows that exposure to anesthesia and abdominal surgery during infancy is not associated with cognitive dysfunction from the perspective of educational level, disposable income and ADHD in adolescent and adult individuals. Further studies in larger cohorts at earlier gestational ages are needed to verify these findings.
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13.
  • Dellenmark-Blom, Michaela, 1983, et al. (författare)
  • Postoperative morbidity and health-related quality of life in children with delayed reconstruction of esophageal atresia: a nationwide Swedish study
  • 2022
  • Ingår i: Orphanet Journal of Rare Diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 17:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background In 10-15% of children with esophageal atresia (EA) delayed reconstruction of esophageal atresia (DREA) is necessary due to long-gap EA and/or prematurity/low birth weight. They represent a patient subgroup with high risk of complications. We aimed to evaluate postoperative morbidity and health-related quality of life (HRQOL) in a Swedish national cohort of children with DREA. Methods Postoperative morbidity, age-specific generic HRQOL (PedsQL((TM)) 4.0) and condition-specific HRQOL (The EA-QOL questionnaires) in children with DREA were compared with children with EA who had primary anastomosis (PA). Factors associated with the DREA group's HRQOL scores were analyzed using Mann-Whitney U-test and Spearman's rho. Clinical data was extracted from the medical records. Significance level was p < 0.05. Results Thirty-four out of 45 families of children with DREA were included and 30 returned the questionnaires(n = 8 children aged 2-7 years; n = 22 children aged 8-18 years). Compared to children with PA(42 children aged 2-7 years; 64 children aged 8-18 years), there were no significant differences in most early postoperative complications. At follow-up, symptom prevalence in children aged 2-7 with DREA ranged from 37.5% (heartburn) to 75% (cough). Further digestive and respiratory symptoms were present in >= 50%. In children aged 8-18, it ranged from 14.3% (vomiting) to 40.9% (cough), with other digestive and airway symptoms present in 19.0-27.3%. Except for chest tightness (2-7 years), there were no significant differences in symptom prevalence between children with DREA and PA, nor between their generic or condition-specific HRQOL scores (p > 0.05). More children with DREA underwent esophageal dilatations (both age groups), gastrostomy feeding (2-7 years), and antireflux treatment (8-18 years), p < 0.05. Days to hospital discharge after EA repair and a number of associated anomalies showed a strong negative correlation with HRQOL scores (2-7 years). Presence of cough, airway infection, swallowing difficulties and heartburn were associated with lower HRQOL scores (8-18 years), p < 0.05. Conclusions Although children with DREA need more treatments, they are not a risk group for postoperative morbidity and impaired HRQOL compared with children with PA. However, those with a long initial hospital stay, several associated anomalies and digestive or respiratory symptoms risk worse HRQOL. This is important information for clinical practice, families and patient stakeholders.
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14.
  • Dellenmark-Blom, Michaela, et al. (författare)
  • Prevalence of Mental Health Problems, Associated Factors, and Health-Related Quality of Life in Children with Long-Gap Esophageal Atresia in Sweden
  • 2023
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier. - 0022-3468 .- 1531-5037. ; 58:9, s. 1646-1655
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Children with long-gap esophageal atresia (LGEA) face a high risk of digestive and respiratory morbidity, but their mental health outcomes have not been investigated. We aimed to identify the prevalence of mental health problems in children with LGEA, associated factors and health-related quality of life (HRQOL).Methods: Twenty-six children with LGEA aged 3-17 were recruited nationwide in Sweden. One of their parents and adolescents aged 11-17 completed information on the child's mental health (Strength and Difficulties Questionnaire), generic (PedsQL 4.0) and condition-specific HRQOL (EA-QOL). Parents gave information on current child symptomatology. Mental health level was determined using validated norms; abnormal >= 90 percentile/borderline >= 80 percentile/normal. Elevated levels were considered borderline/abnormal. Data were analyzed using descriptives, correlation and Mann-Whitney-U test. Significance level was p < 0.05.Results: Twelve children with LGEA aged 3-17 (46%) had elevated scores of >= 1 mental health domain in parent-reports, whereas 2 adolescents (15%) in self-reports. In parent-reports, 31% of the children had elevated levels of peer relationship problems, with associated factors being child sex male (p = 0.037), airway infections (p = 0.002) and disturbed night sleep (p = 0.025). Similarly, 31% showed elevated levels of hyperactivity/inattention, and associated factors were male sex (p = 0.005), asthma (p = 0.028) and disturbed night sleep (p = 0.036). Elevated levels of emotional symptoms, seen in 20%, were related to swallowing difficulties (p = 0.038) and vomiting problems (p = 0.045). Mental health problems correlated negatively with many HRQOL domains (p < 0.05).Conclusions: Children with LGEA risk mental health difficulties according to parent-reports, especially peer relationship problems and hyperactivity/inattention, with main risk factors being male sex, airway problems and sleep disturbances. This should be considered in follow-up care and research, particularly since their mental health problems may impair HRQOL.
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15.
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16.
  • Donoso, Felipe, 1984- (författare)
  • Function and morbidity of the esophagus and respiratory system in the growing child with esophageal atresia
  • 2020
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Background: Esophageal atresia (EA) is a congenital malformation that consists of various degrees of discontinuity of the esophagus and affects about 1:3000 live births. EA is usually corrected at birth with survival rates over 90%, which has shifted the focus towards improvement of associated morbidity and health-related quality of life.The aims of this thesis were to investigate how morbidity in the esophagus and respiratory system in children with EA relates with diagnostic and function tests included in the follow-up programme after EA repair and evaluate the efficacy of the recommended proton pump inhibitor (PPI) prophylaxis.Methods: The study population consists of 169 children treated for EA in the Department of Pediatric Surgery at University Children’s Hospital, Uppsala between 1994 and 2018. The patients participated in the multidisciplinary follow-up programme that was established in 2011 for patients with EA. The thesis is based on four observational studies that investigated the outcome of the patients and generalisability of the results; risk factors for anastomotic strictures and the efficacy of PPI-treatment regimen in reducing its incidence; pulmonary function and risk factors for pulmonary function impairment; and association between ambulatory 24h pH test, endoscopic findings of esophagitis and hiatal hernia, symptoms of gastroesophageal reflux (GER), and histopathological esophagitis. The studies were approved by the Regional Committee for Medical Research Ethics.Results: The demographics and outcome of our study population are comparable with centres of higher caseload, showing low mortality rate but significant morbidity, especially considering anastomotic strictures and patients with long gap EA. Long gap EA, higher birth weight, and anastomotic tension were independent risk factors of anastomotic stricture formation. Prophylactic PPI-treatment did not reduce anastomotic strictures compared with symptomatic PPI-treatment. Respiratory morbidity and obstruction of the airways were common in children and adolescents after EA repair. The risk for pulmonary function impairment increased with lower birth weight and older age at follow-up. Neither ambulatory 24h pH-metry, clinical symptoms of GER nor endoscopic esophagitis were reliable tools to identify histopathological esophagitis in children and adolescents after EA repair and cannot replace esophageal biopsies.Conclusion: The poor correlation between clinical symptoms and morbidity of the esophagus and respiratory system justifies the need of clinical follow-up programmes in patients with EA. A general recommendation to stop prophylactic PPI-treatment after EA repair cannot be supported, however, sufficient evidence is available to support randomised controlled studies.
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17.
  • Donoso, Felipe, et al. (författare)
  • Outcome and management in infants with esophageal atresia : a single centre observational study
  • 2016
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 51:9, s. 1421-1425
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Purpose: A successful outcome in the repair of esophageal atresia (EA) is associated with a high quality pediatric surgical centre, however there are several controversies regarding the optimal management. The aim of this study was to investigate the outcome and management EA in a single pediatric surgical centre.Methods: Medical records of infants with repaired EA from 1994 to 2013 were reviewed.Results: 129 infants were included. Median follow-up was 5.3 (range 0.1-21) years. Overall survival was 94.6%, incidences of anastomotic leakage 7.0%, recurrent fistula 4.6% and anastomotic stricture 53.5% (36.2% within first year). In long gap EA (n = 13), delayed primary anastomosis was performed in 9 (69.2%), gastric tube in 3 (23.1%) and gastric transposition in one (7.7%) infants. The incidences of anastomotic leakage and stricture in long gap EA were, 23.1% and 69.2%, respectively. Peroperative tracheobronchoscopy and postoperative esophagography were implemented as a routine during the study-period, but chest drains were routinely abandoned.Conclusion: The outcome in this study is fully comparable with recent international reports showing a low mortality but a significant morbidity, especially considering anastomotic strictures and LGEA. Multicenter EA registry with long-term follow up may help to establish best management of EA.
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18.
  • Donoso, Felipe, et al. (författare)
  • Predictors of histopathological esophagitis in infants and adolescents with esophageal atresia within a national follow-up programme.
  • 2022
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 17:4
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: Esophageal atresia (EA) is a congenital anomaly of the foregut. Although the survival has improved over the years there is a significant gastrointestinal morbidity affecting physical function and health-related quality of life. The aims of the study were to identify and evaluate predictors of histopathological esophagitis in infants and adolescents with EA.METHODS: Single centre, cross-sectional study including one and 15-year-old patients operated for EA that participated in the national follow-up programme between 2012 and 2020 according to a pre-established protocol including upper endoscopy with oesophageal biopsies and 24h-pH-test. Data was collected from patients' medical records and pH-analysis software. Regression models were used to identify predictors of histopathological oesophagitis. Possible predictors were abnormal reflux index, endoscopic esophagitis, hiatal hernia, symptoms of gastroesophageal reflux (GER) and age.RESULTS: 65 patients were included, 47 children and 18 adolescents. All children were treated with PPI during their first year of life. Symptoms of GER were reported by 13 (31.7%) of the infant's caregivers, 34 of the children (72.3%) had abnormal reflux index and 32 (68.1%) had histopathological esophagitis. The corresponding numbers for adolescents were 8 (50%), 15 (83.3%) and 10 (55.6%). We found no significant associations between histopathological esophagitis and endoscopic esophagitis, symptoms of GER, hiatus hernia or age group. Abnormal reflux index was an independent predictor of histopathological esophagitis. Seven patients with normal reflux index had histopathological esophagitis, all grade I.CONCLUSIONS: We found a high prevalence of histopathological esophagitis despite PPI treatment in accordance with recommendations. No significant difference between the two age groups was seen. Abnormal reflux index was an independent predictor of histopathological esophagitis. However, we cannot recommend the use of pH-metry as a substitute for esophageal biopsies; future studies are needed to elucidate if esophageal biopsies might be postponed in infants with normal reflux index.
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19.
  • Donoso, Felipe, et al. (författare)
  • Pulmonary function in children and adolescents after esophageal atresia repair
  • 2020
  • Ingår i: Pediatric Pulmonology. - : Wiley. - 8755-6863 .- 1099-0496. ; 55:1, s. 206-213
  • Tidskriftsartikel (refereegranskat)abstract
    • IntroductionRespiratory morbidity after esophageal atresia (EA) is common. The aims of this study were to assess pulmonary function, to identify risk factors for pulmonary function impairment (PFI), and to investigate the relations between respiratory morbidity, defined as medical treatment for respiratory symptoms or recent pneumonia and PFI after EA repair.Material and MethodsSingle center retrospective observational study including patients with EA who participated in the follow‐up program for 8‐ or 15‐year old patients from 2014 to 2018 and performed pulmonary function testing by body plethysmography, dynamic spirometry, impulse oscillometry, and diffusing capacity of the lungs. Univariate and multiple stepwise logistic regression with PFI as outcome were performed. Anastomotic leak, episodes of general anesthesia, extubation day, birth weight, age at follow up, gross classification, and abnormal reflux index were independent variables.ResultsIn total, 47 patients were included. PFI was found in 19 patients (41%) and 16 out of 19 patients (84%) had an obstructive pattern. Respiratory morbidity was found in 23 (52%, NA = 3) of the patients with no correlation to PFI. Birth weight, age at follow‐up, and episodes of general anesthesia were identified as risk factors for PFI.ConclusionRespiratory morbidity and PFI were common in children and adolescents after EA repair. The major component of PFI was obstruction of the airways. The risk for PFI increased with lower birth weight and older age at follow up. The poor correlation between respiratory morbidity and PFI motivates the need of clinical follow up including pulmonary function tests.
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20.
  • Donoso, Felipe, et al. (författare)
  • Risk Factors for Anastomotic Strictures after Esophageal Atresia Repair : Prophylactic Proton Pump Inhibitors Do Not Reduce the Incidence of Strictures
  • 2017
  • Ingår i: European journal of pediatric surgery. - : GEORG THIEME VERLAG KG. - 0939-7248 .- 1439-359X. ; 27:1, s. 50-55
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Since 2005, infants with esophageal atresia (EA) in our unit are given prophylactic proton pump inhibitors (PPI) after repair until 1 year of age. The aims of this study were to identify risk factors for anastomotic strictures (AS) and to assess the efficacy of postoperative PPI prophylaxis in reducing the incidence of AS compared with symptomatic PPI. Methods Patients who underwent EA repair from 1994 to 2013 in our unit were included in this retrospective observational study approved by the local ethics review board. They were divided into two subgroups; symptomatic PPI-group with EA repair from 1994 to 2004 and prophylactic PPI-group with EA repair from 2005 to 2013. Data were collected from the patient records. Potential risk factors for AS analyzed were gender, long gap EA, birth weight, premature birth (< 37 gestational weeks), anastomotic tension, and anastomotic leakage. Number of dilatations until the age of 1 and 5 years were recorded. To evaluate risk factors for AS and the effect of prophylactic PPI Logistic, Cox and Poisson regression models were used. For descriptive statistics Fisher exact test and Wilcoxon rank sum test were used. Results A total of 128 patients were included. Patient characteristics, surgical method, grading of anastomotic tension, complications, and survival rates did not differ significantly between the symptomatic PPI-group (n = 71) and the prophylactic PPI-group (n = 57). Comparing the symptomatic and prophylactic PPI-group, there was no significant difference in the median age at the first AS (9.3 vs 6 mo), the number of dilatations until 1 year (2 vs 2) and 5 years (5 vs 4), or the incidence of anastomotic stricture (56.5% vs 50.9%). Long gap EA, high birth weight, and anastomotic tension were found to be independent risk factors. Conclusion Surgeons should aim to perform anastomosis under less tension at EA repair. Prophylactic PPI-treatment does not appear to reduce the rate of AS. Randomized controlled trials with larger study populations are needed to further evaluate the efficacy of prophylactic PPI.
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21.
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22.
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23.
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24.
  • Engstrand Lilja, Helene, et al. (författare)
  • Outcome in neonates with esophageal atresia treated over the last 20 years
  • 2008
  • Ingår i: Pediatric surgery international (Print). - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 24:5, s. 531-536
  • Tidskriftsartikel (refereegranskat)abstract
    • We evaluated the outcome in infants with esophageal atresia (EA) treated in our department over the last two decades. The medical records of 147 infants treated from 1986 to 2005 were reviewed. Patient characteristics, associated anomalies, surgery and complications were recorded. We divided the material into two time-periods: 1986-1995 and 1996-2005; 125 patients or parents were interviewed regarding gastrointestinal function, respiratory symptoms and education. The incidence of major cardiac defects increased from 23 to 29% and the overall survival increased from 87 to 94%. Using Spitz' classification survival increased from 93.5 to 100% in group I and from 68.4 to 77.8% in group II. In group III, during the second time period, survival was 100% in three patients. The incidence of anastomotic leakage and recurrent fistula did not change over time. The rate of anastomotic strictures increased from 53 to 59% between the two time-periods. A primary anastomosis could be done in 85% of the patients during the second period versus 78% of the patients during the first period. Anti-reflux surgery was done in only 11 and 9%, respectively, during the two time-periods. In patients who were 16-20 years old, 40-50% had gastrointestinal and respiratory symptoms. Ninety percent of the patients attended normal school. The major difference between the periods 1986-1995 and 1996-2005 was an increased survival despite an increased incidence of major cardiac defects. Gastrointestinal and respiratory symptoms were frequent. Long-term follow-up and treatment of complications of esophageal atresia is important for this patient group.
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25.
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26.
  • Fredriksson, Fanny, 1985-, et al. (författare)
  • Adhesive small bowel obstruction after laparotomy during infancy
  • 2016
  • Ingår i: British Journal of Surgery. - : Oxford University Press (OUP). - 0007-1323 .- 1365-2168. ; 103:3, s. 284-289
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Intra-abdominal adhesions can cause adhesive small bowel obstruction, chronic abdominal pain and female infertility. Reports on long-term outcomes following laparotomy during infancy are scarce. The aims of this study were to investigate the incidence of and risk factors for long-term adhesive small bowel obstruction and associated morbidity after laparotomy during infancy.METHODS: Infants who underwent laparotomy between 1976 and 2011 were identified. Data were extracted from medical records and a questionnaire was sent to the patients.RESULTS: Some 898 of 1185 eligible patients were included, with a median follow-up time of 14·7 (range 0·0-36·0) years. Median age at first laparotomy was 6 (range 1·0-365·0) days. There were 113 patients (12·6 per cent) with adhesive small bowel obstruction who underwent relaparotomy, 79 (69·9 per cent) occurring during the first 2 years after the initial laparotomy. The highest incidence of small bowel obstruction was found in patients with Hirschsprung's disease (19 of 65, 29 per cent), malrotation (13 of 45, 29 per cent), intestinal atresia (11 of 40, 28 per cent) and necrotizing enterocolitis (16 of 64, 25 per cent). Lengthy duration of surgery (hazard ratio (HR) 1·25, 95 per cent c.i. 1·07 to 1·45), stoma formation (HR 1·72, 1·15 to 2·56) and postoperative complications (HR 1·81, 1·12 to 2·92) were independent risk factors. Chronic abdominal pain was reported in 180 (24·0 per cent) of 750 patients, and 17 (13·8 per cent) of 123 women reported infertility.CONCLUSION: The incidence of adhesive small bowel obstruction after laparotomy in infants is high.
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27.
  • Fredriksson, Fanny, et al. (författare)
  • Locally increased concentrations of inflammatory cytokines in an experimental intraabdominal adhesion model
  • 2014
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 49:10, s. 1480-1484
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Peritoneal adhesions may cause bowel obstruction, infertility, and pain. This study investigated cytokines, proteins and growth factors thought to promote formation of adhesions in an experimental intraabdominal adhesion model. Methods: Male Sprague-Dawley rats were subjected to laparotomy, cecal abrasion, and construction of a small bowel anastomosis and examined at various time points after surgery. Concentrations of cytokines and growth factors in plasma and peritoneal fluid were analyzed using electrochemoluminescence and quantitative sandwich enzyme immunoassay technique. Results: Concentrations of interleukin-6 (IL-6), interleukin-1beta (IL-1 beta), and tumor necrosis factor alpha (TNF-alpha) increased in peritoneal fluid from 6 h after incision. Plasma concentrations of IL-6 increased at 6 h, but plasma concentrations of IL-1 beta and TNF-alpha remained low. Peritoneal fluid concentrations of platelet-derived growth factor-BB (PDGF- BB), transforming growth factor beta1 (TGF-beta 1), vascular endothelial growth factor (VEGF), tissue-type plasminogen activator (tPA) and plasminogen activator inhibitor-1 (PAI-1) were below detection levels at all time points. Conclusion: Early elevations of IL-6, IL-1 beta, and TNF-alpha concentrations in peritoneal fluid correlated to adhesion formation in this rodent model. Our model is relevant and reproducible, suitable for intervention, and indicates that antiadhesion strategies should be early, local and not systemic.
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28.
  • Fredriksson, Fanny, 1985-, et al. (författare)
  • Survival rates for surgically treated necrotising enterocolitis have improved over the last four decades
  • 2019
  • Ingår i: Acta Paediatrica. - : WILEY. - 0803-5253 .- 1651-2227. ; 108:9, s. 1603-1608
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim Improved survival rates for premature infants have also increased the population at risk of necrotising enterocolitis (NEC). This study evaluated the outcomes of surgically treated NEC and identified risk factors for mortality, intestinal failure (IF) and IF associated liver disease (IFALD). Methods This was a retrospective observational study of 131 infants with surgically treated NEC from 1976 to 2016 in a Swedish tertiary referral centre: 20 in 1976-1996, 33 in 1997-2006 and 78 in 2007-2016. Data were extracted from medical records, and the Cox regression model was used to identify risk factors. Results When the first and last periods were compared, they showed decreases in both gestational age, from 30 to 26 weeks, and mortality rates, from 45% to 29%. IF was found in 67 patients (56%), IFALD in 41 patients (34%) and short bowel syndrome (SBS) in 13 (19%). The incidence of IF was high, even in infants without SBS. Low gestational age was an independent risk factor for mortality. No risk factors were identified for IF or IFALD. Conclusion Survival rates for NEC improved from 1976-2016, despite a decrease in gestational age. Clinicians should be particularly aware of the risk of infants without SBS developing IF.
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29.
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30.
  • Gehlen, J., et al. (författare)
  • First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
  • 2022
  • Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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31.
  • Hakanson, Cecilia Arana, et al. (författare)
  • Paediatric Adhesive Small Bowel Obstruction is Associated with a Substantial Economic Burden and High Frequency of Postoperative Complications
  • 2023
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier. - 0022-3468 .- 1531-5037. ; 58:11, s. 2249-2254
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Intra-abdominal adhesions can lead to adhesive small bowel obstruction (ASBO). The incidence of ASBO is higher in paediatric surgery than in adult surgery. However, ASBO related complications, economic burden and clear management guidelines in the treatment of ASBO are lacking. The aims of this study were to investigate underlying diagnoses, treatments, complications and costs in paediatric ASBO. Method: An observational retrospective study in children 0-15 years, hospitalised for ASBO during 2000 -2020. Data were extracted from the medical records. Complications were classified based on Clavien Dindo Classification of Surgical Complications. Descriptive statistics were presented as median, continuous variables and categorical variables summarised with frequencies. Time to ASBO was presented as a Kaplan-Meier estimate. Results: In total, 101 patients with 137 episodes of ASBO were included whereof 58.4% underwent first (index) surgery during the neonatal period. Median follow-up was 11.3 (0.6-19) years and median time to the first ASBO was 3.76 months (95%CI 2.23-12.02). The most common diagnoses at index surgery were necrotising enterocolitis, duodenal obstruction and primary ASBO. In 86.6% of the patients, first ASBO did not resolve with conservative treatment and a laparotomy was needed. Postoperative complications were found in 52%. Median cost for one episode of acute ASBO was 36 236 USD (1629 -236 159). Conclusion: Neonatal surgery was the dominating cause of ASBO and surgical intervention the most common treatment with a high frequency of postoperative complications and significant healthcare costs. Future studies are needed to develop safe management guidelines for the treatment of paediatric ASBO. Levels of Evidence: III. (c) 2023 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
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32.
  • Hambraeus, Mette, et al. (författare)
  • Functional outcome and health-related quality of life in patients with sacrococcygeal teratoma – a Swedish multicenter study
  • 2019
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 54:8, s. 1638-1643
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Purpose: The aims of this study were to evaluate bowel and urinary tract function, to identify predictors for dysfunctional outcome and to evaluate health-related quality-of life (QoL) in patients treated for sacrococcygeal teratomas (SCT). Methods: Medical records of patients with SCT born between 1985 and 2015 treated at three Swedish pediatric surgical centers were reviewed. Questionnaires regarding urinary tract function, bowel function and QoL were sent to patients and parents. Different QoL instruments were used for the different age groups. Results: Totally 85 patients were identified. Four patients died in the neonatal period. Forty-nine patients answered the questionnaires (60%). Median age at follow-up was 8.9 years (range 3.6–28.8). Bowel dysfunction was reported by 36% and urinary tract dysfunction by 46% of the patients. Univariate analysis revealed that urinary tract dysfunction correlated with gestational age (p = 0.018) and immature histology (p = 0.008), and bowel dysfunction correlated with gestational age (p = 0.016) and tumor size (p = 0.042). Low gestational age was an independent predictor for both urinary tract and bowel dysfunction. Good or very good QoL was reported by 56% of children aged 4–7 years, 90% of children aged 8–17 years and 67% of the adults. Conclusion: Although a considerable proportion of bowel and urinary tract dysfunction was found, the reported QoL was good in a majority of the patients with SCT. Low gestational age was found to be a predictor for bowel- and urinary tract dysfunction. Level of Evidence: Level III.
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33.
  • Hoffsten, Alice, et al. (författare)
  • Early Postnatal Comprehensive Biomarkers Cannot Identify Extremely Preterm Infants at Risk of Developing Necrotizing Enterocolitis.
  • 2021
  • Ingår i: Frontiers in pediatrics. - : Frontiers Media S.A.. - 2296-2360. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Necrotizing enterocolitis (NEC) is a fatal disease where current diagnostic tools are insufficient for preventing NEC. Early predictive biomarkers could be beneficial in identifying infants at high risk of developing NEC. Objective: To explore early biomarkers for predicting NEC in extremely preterm infants (EPIs). Methods: Blood samples were collected on day 2 (median 1.7; range 1.5-2.0) from 40 EPI (median 25 gestational weeks; range 22-27): 11 developed NEC and 29 did not (controls). In each infant, 189 inflammatory, oncological, and vascular proteomic biomarkers were quantified through Proximity Extension Assay. Biomarker expression and clinical data were compared between the NEC group and Controls. Based on biomarker differences, controls were sorted automatically into three subgroups (1, 2, and 3) by a two-dimensional hierarchical clustering analysis. Results: None of the biomarkers differed in expression between all controls and the NEC group. Two biomarkers were higher in Control 1, and 16 biomarkers were lower in Control group 2 compared with the NEC group. No biomarker distinguished Control 3 from the NEC group. Perinatal data were similar in the whole population. Conclusions: Early postnatal comprehensive biomarkers do not identify EPIs at risk of developing NEC in our study. Future studies of predictors of NEC should include sequential analysis of comprehensive proteomic markers in large cohorts.
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34.
  • Hoffsten, Alice, et al. (författare)
  • Paneth cell proteins DEFA6 and GUCA2A as tissue markers in necrotizing enterocolitis
  • 2023
  • Ingår i: European Journal of Pediatrics. - : Springer Nature. - 0340-6199 .- 1432-1076. ; 182:6, s. 2775-2784
  • Tidskriftsartikel (refereegranskat)abstract
    • Previous studies suggest that Paneth cells are involved in NEC development. Defensin alpha 6 (DEFA6) and guanylate cyclase activator 2A (GUCA2A) are selective protein markers of Paneth cells. The objective was to explore DEFA6 and GUCA2A expression in intestinal tissue samples from newborn infants with and without NEC. Tissue samples from histologically intact intestine were analyzed from 70 infants: 43 underwent bowel resection due to NEC and 27 controls were operated due to conditions such as intestinal atresia, dysmotility, aganglionosis, pseudo-obstruction or volvulus. Each tissue sample was immunohistochemically stained for DEFA6 and GUCA2A. Semi-automated digital image analysis was performed to determine protein expression. Clinical data and protein expressions were compared between the groups. DEFA6 expression was lower in the NEC group (p = 0.006). Low DEFA6 correlated with risk of developing NEC in a logistic regression analysis, independently of gestational age and birth weight (OR 0.843 [CI 0.732–0.971]; p = 0.018). GUCA2A expression did not differ between the two groups.Conclusion: Lower expression of DEFA6 together with intact GUCA2A expression indicates that NEC patients have well-defined Paneth cells but diminished defensin activity. Our results suggest that DEFA6 could be used as a biomarker for NEC.What is Known:• Previous studies of defensin activity in NEC have been inconsistent, showing that defensin levels may be increased or diminished in NEC. GUCA2A has to our knowledge never been studied in NEC.What is New:• This study benchmarks two specific Paneth cell markers (DEFA6 and GUCA2A) and their activity in individuals with and without NEC.• The key finding is that the NEC group had a lower DEFA6 expression compared to the Controls, while the expression of GUCA2A did not differ between the groups.
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35.
  • Högberg, Niclas, 1979- (författare)
  • Experimental and Clinical Necrotizing Enterocolitis
  • 2013
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Necrotizing enterocolitis (NEC), a severe inflammatory disorder of the gastrointestinal tract with high morbidity and mortality, affects primarily preterm infants. The diagnosis represents a challenging task, and no biomarker has been found to aid early diagnosis with high accuracy. Microdialysis has been widely used to detect metabolites of anaerobic metabolism, enabling a local and early detection of ischemia. This thesis aims to evaluate the possibility of detecting intestinal ischemic stress in experimental and clinical  NEC, by use of rectal intraluminal microdialysis.Intraluminal rectal microdialysis was performed on rats subjected to total intestinal ischemia. Metabolites of ischemia were detectable in both ileum and rectum, with raised glycerol concentrations and lactate/pyruvate ratios. Elevated concentrations of glycerol correlated to increasing intestinal histopathological injury.Experimental early NEC was induced in newborn rat pups, by hypoxia/re-oxygenation treatment. Development of NEC was confirmed by histopathology. Elevated glycerol concentrations were detected by rectal microdialysis.The genetic alterations following experimental NEC in rat pups were studied with microarray. Immunohistochemistry staining was performed for tight junction proteins claudin-1 and claudin-8. Several genes were altered in experimental NEC, mainly genes regulating tight junctions and cell adhesion. Immunohistochemistry revealed reduced expression of claudin-1.A prospective study was conducted on preterm infants with a gestational age of less than 28 weeks. The infants were admitted to a neonatal intensive care unit, and observed during a 4-week period. Rectal microdialysis was performed twice a week, and blood was drawn for analysis of I-FABP. A total of 15 infants were included in the study, whereof four infants developed NEC, and 11 served as controls. Rectal glycerol and I-FABP displayed high concentrations, which varied considerably during the observation periods, both in NEC and controls. No differences in either glycerol or I-FABP concentrations were seen in the NEC-group vs. the controls.In conclusion, rectal microdialysis can detect metabolites of intestinal ischemia, both in experimental and clinical NEC. Rectal microdialysis is safe and could provide a valuable non-invasive aid to detect hypoxia-induced intestinal damage or ischemic stress in extremely preterm infants. In this study however, it was not possible to predict the development of clinical NEC using microdialysis or I-FABP.
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36.
  • Högberg, Niclas, 1979-, et al. (författare)
  • Genes regulating tight junctions and cell adhesion are altered in early experimental necrotizing enterocolitis
  • 2013
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 48:11, s. 2308-2312
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/purpose:Necrotizing enterocolitis (NEC) represents one of the gravest complications in preterm infants and carries significant morbidity and mortality. Increased intestinal permeability may play an important role in the pathogenesis of NEC. In this study we investigated the genes regulating structural proteins such as tight junctions (TJ) and cell adhesion in a neonatal rat model of early NEC, as well as the expression of TJ proteins by immunohistochemistry staining.Methods:The studies were performed on Sprague-Dawley rat pups. Experimental NEC was induced using hypoxia/reoxygenation treatment on day 1 after birth. Intestinal specimens from the ileum were obtained, mRNA was purified and the transcriptome was analyzed using microarray. Immunohistochemistry staining was performed for TJ proteins.Results:We found several TJ genes such as claudins 1, 8, 14, 15 and gap junction protein to be affected. Immunohistochemistry staining for TJ protein claudin-1 revealed decreased levels in experimental NEC compared to controls. Alterations in genes involved in the inflammatory response was confirmed, along with several genes regulating proteins used as biomarkers for NEC.Conclusion:This study indicates that tight junctions and cell adhesion may play a critical role in the pathogenesis of early experimental NEC. Better understanding of the pathogenesis of NEC may lead to novel strategies for the prevention and treatment of NEC.
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37.
  • Högberg, Niclas, 1979-, et al. (författare)
  • Intestinal intraluminal glycerol and plasma I-FABP levels in preterm infants with necrotizing enterocolitis
  • 2016
  • Ingår i: Clinics in Surgery. ; 1:1085, s. 1-6
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Purpose: Necrotizing enterocolitis (NEC) is highly associated with prematurity and is characterized by bowel necrosis and multi-organ failure. There is a strong need for improved diagnostic methods to reduce the significant morbidity and mortality associated with NEC. The aim of this single centre prospective study was to investigate the possibility to detect early signs of NEC, by using rectal intraluminal microdialysis and plasma intestinal fatty acid binding protein (I-FABP) in preterm infants admitted to a level III neonatal intensive care unit.Methods: The study was performed on extremely preterm infants with a gestational age of less than 28 weeks. During a 4-week period after birth, rectal intraluminal microdialysate levels of glucose, lactate, pyruvate and glycerol were measured, and plasma was collected for I-FABP analysis. Infants not developing NEC served as controls. Results: Microdialysis revealed signs of intestinal hypoxic or ischemic damage and cell membrane degradation, with a marked increase of both intraluminal glycerol and plasma I-FABP in infants developing NEC, as well as in infants suffering from other complications. The microdialysate levels of glucose, lactate and pyruvate were too low to be evaluated in this setting. All infants tolerated the microdialysis well without any complications.Conclusion: Elevated levels of intraluminal glycerol and plasma I-FABP suggests mucosal cell membrane degradation and hypoxic or ischemic damage in preterm infants developing NEC, as well as in preterm infants suffering from other complications such as volvulus, sepsis or respiratory distress. However, it was not possible to predict development of NEC before clinical diagnosis using these markers. 
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38.
  • Högberg, Niclas, 1979-, et al. (författare)
  • Intraluminal intestinal microdialysis detects markers of hypoxia and cell damage in experimental necrotizing enterocolitis
  • 2012
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 47:9, s. 1646-1651
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND/PURPOSE:Necrotizing enterocolitis (NEC) represents one of the gravest complications in premature infants and carries significant morbidity and mortality. There is a great need for improved diagnostic methods to reduce the severity and incidence of NEC. The aim of the study was to investigate if intraluminal microdialysis can detect intestinal ischemia in newborn rats with induced experimental NEC.METHODS:The studies were performed on 1-day-old Sprague-Dawley rat pups. Experimental NEC was induced using hypoxia/reoxygenation treatment. Microdialysis catheters were rectally inserted and placed in the rectosigmoid part of the colon. Microdialysate levels of glucose, lactate, pyruvate, and glycerol were measured. Intestinal specimens were collected at the end of the experiments for microscopic evaluation.RESULTS:Intraluminal microdialysis revealed signs of intestinal hypoxia and cellular damage, with a marked increase of lactate and glycerol. Microscopic evaluation confirmed intestinal damage in the NEC group.CONCLUSION:Intraluminal microdialysis can detect intestinal hypoxic stress and mucosal cell membrane decay in a rat model of NEC. Intestinal intraluminal microdialysis is easily accessible through the rectum and may be a useful noninvasive complement to other methods in the assessment of NEC.
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39.
  • Kadir, Darya, et al. (författare)
  • Risk factors for postoperative mortality in congenital diaphragmatic hernia- a single centre observational study
  • 2017
  • Ingår i: Pediatric surgery international (Print). - : Springer Science and Business Media LLC. - 0179-0358 .- 1437-9813. ; 33:3, s. 317-323
  • Tidskriftsartikel (refereegranskat)abstract
    • The management of congenital diaphragmatic hernia (CDH) is a major challenge. The mortality is dependent on associated malformations, the severity of pulmonary hypoplasia, pulmonary hypertension and iatrogenic lung injury associated with aggressive mechanical ventilation. The aims of the study were to investigate the mortality over time in a single paediatric surgical centre, to compare the results with recent reports and to define the risk factors for mortality. The medical records of infants with CDH from two time periods: 1995-2005 and 2006-2016 were reviewed. Cox regression was used for statistical analysis. The study included 113 infants. The mortality rate was significantly decreased in the later time period, compared to the earlier, 4.4 and 17.9%, respectively. At the early time period five patients (7.5%) were treated with ECMO and in the later time period ECMO was used in three patients (6.5%). The mortality in ECMO-treated patients was 50% in both time periods. Prenatal diagnosis, intrathoracic liver, low Apgar score and low birth weight were defined as independent risk factors for mortality. Despite no significant differences in the incidence of independent risk factors and the use of ECMO between the two time periods, mortality decreased over time. The mortality was lower than previously reported. The results indicate that there are many important factors involved in a successful outcome after CDH repair. Large multicentre studies are necessary to define those critical factors and to determine optimal treatment strategies.
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40.
  • Kassa, Ann-Marie, et al. (författare)
  • Attention difficulties and physical dysfunction common in children with complex congenital malformations : a study of preschool children with VACTERL association
  • 2020
  • Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 109:4, s. 783-789
  • Tidskriftsartikel (refereegranskat)abstract
    • AIM: Knowledge on the neurodevelopmental and physical function in children with vertebral defects, anorectal malformations, cardiac defects, tracheo-oesophageal fistula, renal and limb malformations (VACTERL) is scarce. We evaluated Swedish preschool children with VACTERL and identified whether they would need extra support in school.METHODS: From 2015 to 2017, we recruited children aged 5-7 with VACTERL association from the paediatric surgical centre at the University Children's Hospital at Uppsala. Neurodevelopmental function was assessed by age-appropriate intelligence and visual and auditory attention tests, and the children's behaviour and attention were observed by an experienced psychologist. Physical function was evaluated through parental interviews and examinations. Data on patient characteristics, including any surgery and anaesthesia, were extracted from medical records.RESULTS: Of the 13 eligible families, 10 agreed to participate. Intelligence was within the normal range for all children, but attention difficulties were found in eight of the children, requiring adjustments at school, and two of these were later diagnosed with attention deficit hyperactivity disorder. All children had physical dysfunctions that affected their daily nutrition, bowel or bladder functions.CONCLUSION: Attention difficulties and physical dysfunction were common in Swedish preschool children aged 5-7 with VACTERL and they would need support and adjustments when they started school.
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41.
  • Kassa, Ann-Marie, et al. (författare)
  • Children and adolescents with VACTERL association : health-related quality of life and psychological well-being in children and adolescents and their parents
  • 2020
  • Ingår i: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 29:4, s. 913-924
  • Tidskriftsartikel (refereegranskat)abstract
    • PURPOSE: VACTERL association is a rare and complex condition of congenital malformations, often requiring repeated surgery and entailing various physical sequelae. Due to scarcity of knowledge, the study aim was to investigate self-reported health-related quality of life (HRQoL), anxiety, depression and self-concept in children and adolescents with VACTERL association and self-reported anxiety and depression in their parents.METHODS: Patients aged 8-17 years with VACTERL association and their parents were recruited from three of four Swedish paediatric surgical centres during 2015-2019. The well-established validated questionnaires DISABKIDS, Beck Youth Inventories, Beck Anxiety Inventory and Beck Depression Inventory were sent to the families. Data were analysed using descriptives, t tests and multivariable analysis. Results were compared with norm groups and reference samples.RESULTS: The questionnaires were returned by 40 patients, 38 mothers and 33 fathers. The mean HRQoL was M = 80.4, comparable to children with asthma (M = 80.2) and diabetes (M = 79.5). Self-reported psychological well-being was comparable to the norm group of Swedish school children, and was significantly higher than a clinical sample. Factors negatively influencing children's HRQoL and psychological well-being were identified. The parents' self-reports of anxiety and depression were comparable to non-clinical samples.CONCLUSIONS: Although children and adolescents with VACTERL association reported similar HRQoL to those of European children with chronic conditions, their psychological well-being was comparable to Swedish school children in general. Nevertheless, some individuals among both children and parents were in need of extra support. This attained knowledge is valuable when counselling parents regarding the prognosis for children with VACTERL association.
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42.
  • Kassa, Ann-Marie, 1955-, et al. (författare)
  • Experiences and satisfaction of video follow up of children with paediatric gastrointestinal conditions linking tertiary centre with guardians and clinicians at the local hospital : a cross-sectional study
  • 2024
  • Ingår i: BMC Pediatrics. - : BioMed Central (BMC). - 1471-2431. ; 24:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundChildren with complicated gastrointestinal conditions are dependent on follow up by tertiary care specialists throughout childhood to prevent and treat complications. In Sweden, paediatric surgical- and intestinal rehabilitation centres are centralised which means that many patients and guardians have to travel long distances to access tertiary referral centres. Our tertiary referral centre has developed a model of shared care with video conferences for follow up with our centre and the patient and guardians attending together with the responsible professionals at the local hospital. This study aimed to investigate the experiences and satisfaction with video follow-up visits (VFV) between a tertiary referral centre and guardians and clinicians at their local hospital.MethodsEligible participants were families with children with oesophageal atresia, intestinal failure and intestinal motility disorders and their local clinicians attending VFV with our tertiary referral centre from 2015 to 2020. Questionnaires included fixed-response alternatives, a 6-point Likert scale and open questions.ResultsFifty-seven out of 102 families (56%) and 19 out of 27 local clinicians (70%) responded the questionnaires. In 68% of the VFV, two guardians attended compared to 35% in the physical visits. Of the guardians attending VFV, 82% lost ≤ half a working day and 91% attending physical visits lost ≥ one full working day. Median distance to the tertiary referral centre was 267 km and attending VFV avoided emissions of 7.2 metric tonnes of CO2. Of the guardians, 90% and of the clinicians 95% were satisfied with VFV. Advantages were avoidance of travelling and the participants shared the same information.ConclusionsVFV is an appropriate alternative to physical visits with a high grade of satisfaction among the guardians and clinicians. VFV was time-saving for the families and reduced CO2 emissions.
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43.
  • Kassa, Ann-Marie, et al. (författare)
  • From crisis to self-confidence and adaptation; Experiences of being a parent of a child with VACTERL association : A complex congenital malformation
  • 2019
  • Ingår i: PLOS ONE. - : PUBLIC LIBRARY SCIENCE. - 1932-6203. ; 14:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim Knowledge is scarce regarding mothers' and fathers' experiences of being a parent of a child with VACTERL association-a complex malformation. The aim of the study was to describe experiences of being a parent of a child with VACTERL association. Method Semi-structured interviews were performed with ten mothers and nine fathers face-to-face or by telephone and analyzed by using Qualitative content analysis. Results The parents described crisis reactions at the discovery of malformations in their child. Involvement in care was reported from the initial hospital admission until actively taking responsibility for treatments at home. Eventually the health condition became an integrated part of everyday life. The parents expressed the importance of meeting other families with a child with VACTERL. Descriptions were given of more or less professionalism with perceived discrepancies of knowledge and experience between the healthcare professionals in the tertiary hospital and those in the local hospital. Difficulties in receiving medical support during the initial period at home were described. Furthermore, emotional support and practical arrangements regarding parental accommodation and transportation varied. Conclusion Being a parent of a child with VACTERL association involves crisis, mixed emotional reactions and shared responsibility for the child ' s treatment and care with the professional care providers. Psychological processing, good medical care and support from experts, and peer support from other parents is essential in the parents' struggle to reach self-confidence and adaptation. A care plan with individualized tailored care for each child including a training and support plan for the parents is warranted. To reduce the described discrepancies in knowledge and experience between the local and tertiary hospital, video sessions with the parents and responsible professionals at the local and tertiary hospital could be an appropriate mode of transferring information at discharge and follow up of the child.
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44.
  • Kassa, Ann-Marie, 1955- (författare)
  • Living with VACTERL association : From the perspectives of children, adolescents and their parents
  • 2019
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • VACTERL association is a rare and complex congenital condition often requiring repeated surgery and entailing various physical sequelae. Knowledge is scarce regarding experiences of the health condition and health care, need of support at school, health-related quality of life (HRQoL), and psychological well-being in children, adolescents and their parents.This thesis aims to investigate various aspects of living with VACTERL association, from the perspectives of children, adolescents and their parents.Ten children aged five to eight years were interviewed using the computer-assisted interview technique In My Shoes (Study I). They expressed awareness of their health history and felt proud but also different due to physical dysfunction. While happy to meet familiar staff in the hospital they voiced worries about medical procedures.The nineteen parents interviewed described crisis reactions on the discovery of malformations in their child (Study II). Parental involvement in care was reported from the initial hospital admission until taking responsibility for treatments at home. Eventually the health condition became integrated in everyday life. Insufficient emotional and limited medical support were reported. Various levels of professionalism among healthcare professionals and discrepancies concerning knowledge and experience between the tertiary and local hospitals were described.In ten evaluated pre-school children (Study III), intelligence measured by Wechsler-scales was within the normal range. Eight children had attention difficulties and two were later diagnosed with attention deficit hyperactivity disorder (ADHD). All children had physical dysfunctions affecting their nutrition, bowel or bladder functions. All needed extra support and adjustments at school.Forty children and adolescents responded to validated questionnaires of DISABKIDS and Beck inventories (Study IV). The HRQoL was comparable to European children with chronic conditions. Their psychological well-being was similar to that of Swedish school children and significantly better than that of a clinical sample. Self-reported anxiety and depression in 38 mothers and 33 fathers were comparable to non-clinical samples.In conclusion, regular follow-up by multi-professional team with continuity is crucial to optimise the physical function in children with VACTERL, to identify those in need of extra support at school and to detect reduced psychological well-being in children and parents. Fear of medical procedures may be reduced by carefully providing information and individual care strategies. For the parents psychological processing, support from medical experts and peers is essential to achieve self-confidence and adaptation. Transfer of knowledge and information between multi-professional teams at the local and tertiary hospitals could be improved by the use of video sessions.
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45.
  • Kassa, Ann-Marie, 1955-, et al. (författare)
  • Neurodevelopmental outcomes in individuals with VACTERL association. A population-based cohort study
  • 2023
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:6
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Studies on neurodevelopmental outcomes in individuals with congenital anomalies who undergo neonatal surgery are scarce and have reported contradictory findings based on small study groups. The congenital condition VACTERL association includes at least three malformations: vertebral anomalies, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal anomalies and limb deformities. Most of these patients undergo surgery during their first days of life. Neurodevelopmental disorders include a broad group of disabilities involving some form of disruption to brain development. Attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and intellectual disability (ID) are diagnoses included in this group. The aim of the study was to investigate the risk of ADHD, ASD and ID in a cohort of individuals with VACTERL association.Method: Data was obtained from four Swedish national health registers and analyzed using the Cox proportional hazards model. Patients born 1973-2018 in Sweden with the diagnosis of VACTERL association were included in the study. For each case five healthy controls matched for sex, gestational age at birth, birth year and birth county were obtained.Results: The study included 136 individuals with VACTERL association and 680 controls. Individuals with VACTERL had significantly higher risk of ADHD, ASD and ID than the controls; 2.25 (95% CI, 1.03-4.91), 5.15 (95% CI, 1.93-13.72) and 8.13 (95% CI, 2.66-24.87) times respectively.Conclusions: A higher risk of ADHD, ASD and ID was found among individuals with VACTERL association compared to controls. These results are of importance to caregivers and to professionals participating in follow ups of these patients in providing early diagnosis and support, aiming to optimize the quality of life of these patients.
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46.
  • Kassa, Ann-Marie, et al. (författare)
  • Predictors of postnatal outcome in neonates with gastroschisis
  • 2011
  • Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 46:11, s. 2108-2114
  • Tidskriftsartikel (refereegranskat)abstract
    • Background/Purpose: The optimal management of neonates with gastroschisis is unclear and there is a significant morbidity. We performed a review of neonates with gastroschisis treated at our center of pediatric surgery over the last 21-years in order to determine predictive factors of outcome. Methods: Single-center retrospective analysis of 79 neonates with gastroschisis (1989 to 2009).  Length of hospital stay (LOS), days of parenteral nutrition (PN) and survival were outcome measures. Univariate and multiple regression analyses were used. Results: Overall survival was 92 % and primary closure was achieved in 80 %. Median LOS was 25 days and median duration on PN 17 days. Intestinal atresia, closed gastroschisis, secondary closure and sepsis were the primary variables associated with poor outcome independent of other variables, but prematurity also had an effect on outcome. Route of delivery and associated malformations were not related to poorer outcome. Necrotizing enterocolitis (NEC) did not occur in any of our patients. Conclusion: Outcome in our patients was favorable as measured by survival, LOS, and days on PN. Primary predictors of poor outcome were factors related to short bowel syndrome (SBS) and secondary closure, indicating a need to further improve treatment of SBS.
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47.
  • Kassa, Ann-Marie, 1955-, et al. (författare)
  • The risk of autism spectrum disorder and intellectual disability but not attention deficit/hyperactivity disorder is increased in individuals with esophageal atresia
  • 2023
  • Ingår i: Diseases of the esophagus. - : Oxford University Press. - 1120-8694 .- 1442-2050. ; 36:7
  • Tidskriftsartikel (refereegranskat)abstract
    • Knowledge of neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and intellectual disability (ID) in patients with esophageal atresia (EA) is scarce. The aims of this study were to investigate the prevalence and risk of ADHD, ASD and ID in individuals with EA. Data were obtained from four longitudinal population-based registries in Sweden and analyzed using Cox proportional hazards regression. Patients with EA born in Sweden in 1973-2018 were included together with five controls for each individual with the exposure matched on sex, gestational age at birth, birth year and birth county. Individuals with chromosomal aberrations and syndromes were excluded. In total, 735 individuals with EA and 3675 controls were included. Median age at time of the study was 20 years (3-48). ASD was found in 24 (3.9%), ADHD in 34 (5.5%) and ID in 28 (4.6%) individuals with EA. Patients with EA had a 1.66 times higher risk of ASD (95% confidence interval [CI], 1.05-2.64) and a 3.62 times higher risk of ID (95% CI, 2.23-5.89) compared with controls. The risk of ADHD was not significantly increased. ADHD medication had been prescribed to 88.2% of patients with EA and ADHD and to 84.5% of controls with ADHD. Individuals with EA have a higher risk of ASD and ID than individuals without the exposure. These results are important when establishing follow-up programs for children with EA to allow timely detection and consequentially an earlier treatment and support especially before school start.
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48.
  • Kassa, Ann-Marie, 1955-, et al. (författare)
  • Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study
  • 2022
  • Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 17:5
  • Tidskriftsartikel (refereegranskat)abstract
    • Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients' needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants' perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.
  •  
49.
  • Kassa, Ann-Marie, et al. (författare)
  • Young children with severe congenital malformations (VACTERL) expressed mixed feelings about their condition and worries about needles and anaesthesia
  • 2017
  • Ingår i: Acta Paediatrica. - : WILEY. - 0803-5253 .- 1651-2227. ; 106:10, s. 1694-1701
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim: Our knowledge of the perceptions that children with severe congenital malformations have of their health, treatment and how to improve hospital care is limited. This study focused on patients with vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities (VACTERL).Methods: We interviewed 10 children aged five to eight years with VACTERL association who were treated in a Swedish tertiary paediatric surgical centre, using a computer-assisted technique called In My Shoes. The interviews were analysed by qualitative content analysis.Results: The children described their awareness of their health history and said they felt proud but different due to their physical dysfunction. They were happy to visit the hospital to meet familiar staff, but expressed negative feelings about missing normal life. They were afraid of needle-related procedures and not wakening up after anaesthesia. Various ways of coping with difficult situations were expressed, and suggestions to improve hospital care were voiced.Conclusion: Careful follow-up of these children by multidisciplinary teams is crucial to optimise their health and functional status. Fear of medical procedures may be reduced by carefully delivered information, listening to the children, providing continuity of care and creating individual care strategies.
  •  
50.
  • Klar, Joakim, PhD, 1974-, et al. (författare)
  • Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
  • 2020
  • Ingår i: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 13:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundOesophageal atresia (OA) is a life-threatening developmental defect characterized by a lost continuity between the upper and lower oesophagus. The most common form is a distal connection between the trachea and the oesophagus, i.e. a tracheoesophageal fistula (TEF). The condition may be part of a syndrome or occurs as an isolated feature. The recurrence risk in affected families is increased compared to the population-based incidence suggesting contributing genetic factors.MethodsTo gain insight into gene variants and genes associated with isolated OA we conducted whole genome sequencing on samples from three families with recurrent cases affected by congenital and isolated TEF.ResultsWe identified a combination of single nucleotide variants (SNVs), splice site variants (SSV) and structural variants (SV) annotated to altogether 100 coding genes in the six affected individuals.ConclusionThis study highlights rare SVs among candidate gene variants in our individuals with OA and provides a gene framework for further investigations of genetic factors behind this malformation.
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