| 1. |
- Amin, Leila, et al.
(författare)
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Swedish national population-based study shows an increased risk of depression among patients with Hirschsprung disease.
- 2019
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Ingår i: Acta Paediatrica. - : Wiley. - 0803-5253 .- 1651-2227. ; 108:10, s. 1867-1870
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Tidskriftsartikel (refereegranskat)abstract
- AIM: Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease.METHODS: This was a nationwide, population-based cohort study. The study exposure was Hirschsprung disease and the study outcome was depression. The exposed cohort included all individuals with Hirschsprung disease, registered in the Swedish National Patient Register between 1964 and 2013 and the unexposed cohort included ten age- and sex-matched controls per patient. The diagnosis of depression was confirmed by diagnosis in the Swedish National Patient Register.RESULTS: The cohort included 739 (76.5% males) individuals with Hirschsprung disease and 7390 (76.5% males) controls. Among the patients with Hirschsprung disease, 35 (4.7%) of the patients had had a depressive disorder and 187 (2.5%) of controls, hazard ratio 1.98, 95% confidence interval 1.38-2.84. The mean age at diagnosis of first depression was 21.9 years (SD ± 7) in Hirschsprung disease patients and 23.4 years (SD ± 7), p = 0.236 in the unexposed group. There were no significant gender differences.CONCLUSION: We found an increased risk of having depressive disorders among individuals with Hirschsprung disease compared to controls.
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| 2. |
- Fadista, João, et al.
(författare)
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Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus.
- 2018
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 26:4, s. 561-569
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Tidskriftsartikel (refereegranskat)abstract
- ; 322 cases and 4893 controls). The conditional signal was, however, not replicated in two HSCR cohorts from USA and Finland, leading to the hypothesis that rs144432435 tags a rare haplotype present in Denmark and Sweden. Using the genome-wide complex trait analysis method, we estimated the SNP heritability of HSCR to be 88%, close to estimates based on classical family studies. Moreover, by using Lasso (least absolute shrinkage and selection operator) regression we were able to construct a genetic HSCR predictor with a area under the receiver operator characteristics curve of 76% in an independent validation set. In conclusion, we combined the largest collection of sporadic Hirschsprung cases to date (586 cases) to further elucidate HSCR's genetic architecture.
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| 3. |
- Granström, Anna Löf, et al.
(författare)
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Clinical characteristics and validation of diagnosis in individuals with Hirschsprung disease and inflammatory bowel disease
- 2021
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Ingår i: Journal of Pediatric Surgery. - : Saunders Elsevier. - 0022-3468 .- 1531-5037. ; 56:10, s. 1799-1802
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND/PURPOSE: Hirschsprung disease has previously been reported to be associated with inflammatory bowel disease (IBD). The aim was to clinically confirm the diagnosis and to describe characteristics among individuals with both conditions in a national populationbased cohort.METHODS: Nationwide, population-based cohort study, including all individuals with a Hirschsprung disease diagnosis and an IBD diagnosis registered between 1964 and 2016, in which clinical data were collected from the medical records of 18 validated cases with both Hirschsprung disease and IBD. The medical record of each individual in the study cohort was reviewed for age at IBD diagnosis, type of aganglionosis, type of surgical treatment, subtype of IBD, and treatment for IBD.RESULTS: Median age at follow up was 34 years (range 19-66), and 3 of 18 indivduals (17%) were females. Median age at first diagnosis of IBD was 21 years (range 10-46). Six patients had ulcerative colitis, ten had Crohn's disease and two had unclassified IBD. Most of the patients had pharmacological treatment for IBD and 5 (28%) individuals had surgical treatment.CONCLUSION: Hirschsprung disease and IBD was clinically confirmed in 18 cases. Age at IBD onset and subtype of IBD is similar to IBD patients without Hirschsprung disease. Five individuals had undergone surgical treatment for IBD.
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| 4. |
- Granström, Anna Löf, et al.
(författare)
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No increased risk of attention deficit hyperactivity disorders in patients with Hirschsprung disease.
- 2019
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 54:10, s. 2024-2027
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Hirschsprung disease (HSCR) has previously been associated with increased need of special education services despite normal intelligence. The aim of this study was to assess the risk of attention deficit hyperactivity disorders (ADHD) in individuals with HSCR in a population-based cohort.METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was ADHD. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register.RESULTS: The cohort comprised 739 individuals with HSCR and 7390 controls. Twenty-six of the 739 individuals with HSCR and 202 of the 7390 controls were diagnosed with ADHD, Odds ratio (OR) 1.30, Confidence interval (CI) 95% 0.84-1.93, indicating no difference in risk for ADHD. The mean age at diagnosis of ADHD was not different between the groups; 18.1 years (SD 8.4) vs 16.7 years (SD 7.8), p = 0.39. Down syndrome did not affect the risk for ADHD, OR 2.26 (CI 95% 0.68-5.53). Female gender decreased the risk for ADHD, OR 0.58 (CI 95% 0.40-0.83).CONCLUSIONS: There is no increased risk of ADHD in patients with Hirschsprung disease.LEVEL OF EVIDENCE: Prognosis study, level of evidence: Level I.
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| 5. |
- Granström, Anna Löf, et al.
(författare)
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Selective serotonin reuptake inhibitors during pregnancy Do not increase the risk of Hirschsprung disease.
- 2019
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Ingår i: Journal of Pediatric Surgery. - : Elsevier BV. - 0022-3468 .- 1531-5037. ; 54:11, s. 2398-2401
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Hirschsprung disease (HSCR) is a multifactorial disease. Maternal intake of selective serotonin reuptake inhibitors (SSRI) during early pregnancy has previously been associated with increased risk for HSCR. The aim of this study was to assess the risk for HSCR in newborns after maternal intake of SSRI in a population-based Swedish cohort.METHODS: This was a Swedish nationwide, population-based, case-control cohort study containing all children born in Sweden between 1/12006 and 31/122012. The cases were identified in the Swedish National Patient Register and the controls (five age- and sex-matched controls per case) were randomly selected among children without HSCR in the cohort. Data on maternal SSRI use during pregnancy were collected from the Swedish Prescribed Drug Register.RESULTS: Out of 775,024 born children during the study period, 150 cases of HSCR (112 males) and 750 controls (560 males) were included. Five (3.3%) mothers of newborns with HSCR had used SSRI during pregnancy compared to 16 (2.1%) mothers of the controls (p = 0.372). The mean age was similar in mothers who had used SSRI compared to those who had not (30.9 (SD +/- 5.1) versus 30.6 (SD +/- 5.0), p = 0.81).CONCLUSIONS: There was no increased risk of HSCR owing to maternal intake of SSRI in this cohort.LEVEL OF EVIDENCE: Level I.
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| 6. |
- Kiasat, Ali, et al.
(författare)
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Plasma bile acids in association with Crohn’s disease
- 2024
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Ingår i: Scandinavian Journal of Gastroenterology. - : Taylor and Francis Ltd.. - 0036-5521 .- 1502-7708.
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Tidskriftsartikel (refereegranskat)abstract
- Background: In addition to facilitating lipid digestions, bile acids (BA) are signalling molecules acting on receptors on immune cells and along the gastrointestinal (GI) tract. The aim of this study was to assess if altered bile acid profiles in plasma are associated with Crohn’s disease (CD). Method: This cross-sectional study included individuals (aged ≥18 years) referred for colonoscopy at a tertiary centre in Stockholm between 2016 and 2019. All participants received bowel preparation, completed a lifestyle questionnaire and provided blood samples for analysis. During colonoscopy, severity of disease was graded, and biopsies were taken from colonic mucosa. In the current substudy, 88 individuals with CD and 88 age-matched controls were selected for analysis of BA in plasma with ultra performance liquid chromatography (UPLC). Linear regression models were then used to compare mean bile acid concentrations and concentration ratios between CD and controls. Results: Individuals with CD had lower plasma concentrations of the majority of secondary BA compared to controls, in total CD/CC ratio 0.60 (SE 0.12), p = 0.001. The most prominent observations were lower levels of deoxycolic acid derivates and lithocolic acid derivates among participants with CD. Moreover, plasma concentration for secondary BA among participants with active CD was significantly lower compared to those with CD in remission, CD active/CD remission ratio 0.65 (SE 0.11), p < 0.002. Conclusion: Crohn’s disease may be associated with altered plasma bile acid composition. The significance of colonic bacterial diversity in this context needs to be investigated in further studies.
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| 7. |
- Kiasat, Ali, et al.
(författare)
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The risk of inflammatory bowel disease after bariatric surgery
- 2022
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Ingår i: Surgery for Obesity and Related Diseases. - : Elsevier. - 1550-7289 .- 1878-7533. ; 18:3, s. 343-350
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The association between bariatric surgery and new onset of inflammatory bowel disease has so far only been sparsely studied and with conflicting results.OBJECTIVES: To investigate the association between bariatric surgery and inflammatory bowel disease in a large population-based cohort.SETTING: Nationwide in Sweden.METHODS: This population-based retrospective cohort study included Swedish individuals registered in the Scandinavian Obesity Surgery Registry who underwent primary Roux-en-Y gastric bypass or sleeve gastrectomy during 2007-2018. Ten control individuals from the general population were matched according to age, sex, and region of residence at time of exposure. The study population was followed until 2019 with regard to the development of inflammatory bowel disease. Cox proportional hazards models were used to compare disease-free survival time between subgroups and control individuals for each outcome.RESULTS: The final cohort consisted of 64,188 exposed individuals with a total follow-up of 346,860 person-years and 634,530 controls with total follow-up of 3,444,186 person-years. Individuals who underwent Roux-en-Y-gastric bypass had an increased risk of later development of Crohn's disease (hazard ratio [HR] 1.8, 95% CI 1.5-2.2) and unclassified inflammatory bowel disease (HR 2.7, 95% CI 2.0-3.7) but not ulcerative colitis (HR .9, 95% CI .8-1.1) compared with control individuals, whereas individuals who underwent sleeve gastrectomy had an increased risk of ulcerative colitis (HR 1.8, 95% CI 1.1-3.1) but not Crohn's disease (HR .8, 95% CI .3-2.1) and unclassified inflammatory bowel disease (HR 2.5, 95% CI .8-7.8).CONCLUSIONS: Roux-en-Y gastric bypass was associated with increased risk of Crohn's disease and unclassified inflammatory bowel disease, whereas sleeve gastrectomy was associated with increased risk of ulcerative colitis only.
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| 8. |
- Löf Granström, Anna
(författare)
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Aspects of Hirschsprung disease
- 2016
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of enteric neurons in the distal hindgut. Motility disturbances in the distal colon usually lead to neonatal intestinal obstruction. The birth prevalence of HSCR has been assessed to 1 in 5,000 live births. HSCR is known to be a multifactorial disease caused by both genetic and environmental factors. HSCR can be part of a syndrome, most commonly Down syndrome (trisomy 21). A majority of the patients undergo surgical treatment during the first year of life. There is a risk of impaired long-term functional outcome, with fecal incontinence and obstructive symptoms. The aim of this thesis was to assess the functional outcome and quality of life (QoL) after surgery for HSCR. The aim was also to investigate environmental risk factors for HSCR as well as assessing it as a risk factor for a patient’s future socioeconomic life. An additional aim was to evaluate the molecular background in a family with HSCR combined with multiple sclerosis (MS). In Study I, mutation screening was performed using exome sequencing in three females in a family; a girl with HSCR, and also her mother and grandmother, both with HSCR associated with MS. A novel heterozygote mutation in the endothelin receptor B gene was found changing arginine at position 133 into a premature stop codon (p.Arg>*). Study II was conducted as a longitudinal assessment of bowel function with a three-year interval. Twenty-nine patients operated 1998-2009 with laparoscopic assisted pull-through surgery for HSCR in the Stockholm area were eligible for inclusion. Median age at surgery was 104 days (29 days-8 years) and median age at first follow-up was 4 (2-16) years. Soiling for loose stools was reported by 67% of the patients at the first interview and by 59% three years later, whereas soiling for solid stools was reported by 59% and 56% of the patients respectively. The number of patients suffering from constipation decreased significantly from 41% to 14% (p=0.023). Study III was a cross-sectional study of bowel function and QoL in patients who underwent surgery for HSCR between 1969 and 1994. Validated questionnaires for bowel function and QoL were sent to 60 patients. Forty-eight responded, of who 39 were finally included. For each patient one age- and gender-matched control was selected. The median age at follow-up was 28 (20-43) years and most of the patients had undergone a Soave procedure. Patients with HSCR reported significantly more constipation symptoms and fecal incontinence than the control group. There were no differences in the generic QoL but the symptom-specific QoL showed significantly lower scores for patients with HSCR. Studies IV and V were population-based register studies. In Study IV, maternal risk factors, perinatal characteristics and the birth prevalence of HSCR were investigated in a case-control study between 1982 and 2012. Study IV included 600 cases of HSCR and 3,000 controls and their mothers. The results showed that maternal obesity was associated with an increased risk of the child having HSCR (OR 1.74; CI 1.25-2.44) as well as maternal parity of three or more children (OR 1.25; CI 1.00-1.56). Patients with HSCR were born at an earlier gestational age (OR 1.60; CI 1.18-2.17). The birth prevalence in Sweden between 1987 and 2012 was 1.91/10,000. In Study V the impact of HSCR on future educational level and income was assessed in individuals born between 1964 and 2013. In the cohort, 739 individuals were exposed (having HSCR) and 3,847 individuals were unexposed. The median age of the cohort was 25 (16-49) years. The highest educational level did not differ between the groups (p=0.327). Median individual disposable income was 142,200 (0-817,200) Swedish krona (SEK) in the exposed group and 159,900 (0-3418,900) SEK in the non-exposed group (p=0.615).
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| 9. |
- Stenström, Pernilla, et al.
(författare)
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Total colonic aganglionosis: : a multicenter study of surgical treatment and patient-reported outcomes up to adulthood
- 2020
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Ingår i: BJS Open. - : Oxford University Press (OUP). - 2474-9842. ; 4:5, s. 943-953
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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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