| 11. |
- Hoffsten, Alice, et al.
(författare)
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Early Postnatal Comprehensive Biomarkers Cannot Identify Extremely Preterm Infants at Risk of Developing Necrotizing Enterocolitis.
- 2021
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Ingår i: Frontiers in pediatrics. - : Frontiers Media S.A.. - 2296-2360. ; 9
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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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| 12. |
- Hoffsten, Alice, et al.
(författare)
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Paneth cell proteins DEFA6 and GUCA2A as tissue markers in necrotizing enterocolitis
- 2023
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Ingår i: European Journal of Pediatrics. - : Springer Nature. - 0340-6199 .- 1432-1076. ; 182:6, s. 2775-2784
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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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| 13. |
- Kassa, Ann-Marie, et al.
(författare)
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Attention difficulties and physical dysfunction common in children with complex congenital malformations : a study of preschool children with VACTERL association
- 2020
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 109:4, s. 783-789
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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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| 14. |
- Kassa, Ann-Marie, et al.
(författare)
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Children and adolescents with VACTERL association : health-related quality of life and psychological well-being in children and adolescents and their parents
- 2020
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Ingår i: Quality of Life Research. - : Springer Science and Business Media LLC. - 0962-9343 .- 1573-2649. ; 29:4, s. 913-924
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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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| 15. |
- Kassa, Ann-Marie, 1955-, et al.
(författare)
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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
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Ingår i: BMC Pediatrics. - : BioMed Central (BMC). - 1471-2431. ; 24:1
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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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| 16. |
- Kassa, Ann-Marie, 1955-, et al.
(författare)
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Understanding of the transition to adult healthcare services among individuals with VACTERL association in Sweden: A qualitative study
- 2022
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Ingår i: Plos One. - : Public Library of Science (PLoS). - 1932-6203. ; 17:5
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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.
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| 17. |
- Klar, Joakim, PhD, 1974-, et al.
(författare)
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Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants
- 2020
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Ingår i: BMC Medical Genomics. - : Springer Science and Business Media LLC. - 1755-8794. ; 13:1
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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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| 18. |
- Latheef, Faiza, et al.
(författare)
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The Risk of Necrotizing Enterocolitis following the Administration of Hyperosmolar Enteral Medications to Extremely Preterm Infants
- 2021
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Ingår i: Neonatology. - : S. Karger. - 1661-7800 .- 1661-7819. ; 118:1, s. 73-79
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Necrotizing enterocolitis (NEC) is a disease predominantly affecting preterm infants. The administration of hyperosmolar solutions could lead to the development of NEC. The objective of this study was to measure the osmolality of enteral medications used in clinical practice and to assess the risk of NEC following exposure to hyperosmolar medications.Methods: A retrospective cohort study in extremely preterm infants (gestational age <28 weeks) born between 2010 and 2016 at a tertiary neonatal intensive care unit in Sweden. 465 infants were identified via the Swedish Neonatal Quality register. Data relating to enteral administrations received during a two-week period were collected from the medical records. The osmolalities of medications were measured using an osmometer. Logistic regression was used to calculate the odds ratio of developing NEC.Results: A total of 253 patients met the inclusion criteria. The osmolalities of 5 commonly used medications significantly exceeded the recommended limit of 450 mOsm/kg set by the American Academy of Paediatrics (AAP). Most patients (94%) received at least one hyperosmolar medication. No significant risk of developing NEC could be found.Conclusion: The medications used in clinical practice can significantly exceed the limit set by the AAP. This study does not indicate an increased risk of developing NEC in extremely preterm infants following exposure to hyperosmolar medications. Further studies in larger cohorts are needed to determine the specific cut-off level of osmolality in relation to the pathogenesis of NEC.
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| 19. |
- Mutanen, Annika, et al.
(författare)
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A nordic multicenter study on contemporary outcomes of pediatric short bowel syndrome in 208 patients
- 2023
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Ingår i: Clinical Nutrition. - : Elsevier. - 0261-5614 .- 1532-1983. ; 42:7, s. 1095-1103
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Tidskriftsartikel (refereegranskat)abstract
- Background & aims: Despite advances in the management of short bowel syndrome related intestinal failure (SBS-IF), large-scale contemporary pediatric studies are scarce. The aim of this multicenter study was to assess key outcomes and clinical prognostic factors in a recent Nordic pediatric SBS-IF population.Methods: Patients with SBS-IF treated during 2010-2019, whose parenteral support (PS) started at age <1 year and continued >60 consecutive days were included and retrospectively reviewed. All six participating centers followed multidisciplinary SBS-IF management. Risk factors for PS dependency, intestinal failure associated liver disease (IFALD) and mortality were assessed with Cox regression and Kaplan Meier analyses. IFALD was defined with serum liver biochemistry levels.Results: Among 208 patients, SBS-IF resulted from NEC in 49%, gastroschisis w/wo atresia in 14%, small bowel atresia in 12%, volvulus in 11%, and other diagnoses in 14%. Median age-adjusted small bowel length was 43% (IQR 21-80%). After median follow up of 4.4 years (IQR 2.5-6.9), enteral autonomy was reached by 76%, none had undergone intestinal transplantation, and overall survival was 96%. Half of deaths (4/8) were caused by septic complications. Although biochemical cholestasis occurred only in 3% at latest follow-up and none of deaths were directly caused by IFALD, elevated liver biochemistry (HR 0.136; P = 0.017) and shorter remaining small bowel (HR 0.941; P = 0.040) predicted mortality. Shorter remaining small bowel and colon, and presence of end-ostomy were the main predictors of PS dependency, but not IFALD. Patients with NEC reached enteral autonomy more efficiently and had decreased incidence of IFALD compared to other etiologies.Conclusions: Although with current multidisciplinary management, prognosis of pediatric SBS is encouraging, septic complications and IFALD still associated with the remaining low mortality rate.
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| 20. |
- Räsänen, Lotta, et al.
(författare)
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Outcome and management in neonates with gastroschisis in the third millennium-a single-centre observational study
- 2022
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Ingår i: European Journal of Pediatrics. - : Springer Nature. - 0340-6199 .- 1432-1076. ; 181:6, s. 2291-2298
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Tidskriftsartikel (refereegranskat)abstract
- Gastroschisis is one of the most common congenital malformations in paediatric surgery. However, there is no consensus regarding the optimal management. The aims of this study were to investigate the management and outcome and to identify predictors of outcome in gastroschisis. A retrospective observational study of neonates with gastroschisis born between 1999 and 2020 was undertaken. Data was extracted from the medical records and Cox regression analysis was used to identify predictors of outcome measured by length of hospital stay (LOS) and duration of parenteral nutrition (PN). In total, 114 patients were included. Caesarean section was performed in 105 (92.1%) at a median gestational age (GA) of 36 weeks (range 29-38) whereof (46) 43.8% were urgent. Primary closure was achieved in 82% of the neonates. Overall survival was 98.2%. One of the deaths was caused by abdominal compartment syndrome and one patient with intestinal failure-associated liver disease died from sepsis. None of the deceased patients was born after 2005. Median time on mechanical ventilation was 22 h. Low GA, staged closure, intestinal atresia, and sepsis were independent predictors of longer LOS and duration on PN. In addition, male sex was an independent predictor of longer LOS. Conclusion: Management of gastroschisis according to our protocol was successful with a high survival rate, no deaths in neonates born after 2005, and favourable results in LOS, duration on PN, and time on mechanical ventilation compared to other reports. Multicentre registry with long-term follow-up is required to establish the best management of gastroschisis.
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