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OBJECTIVES: In gastroschisis, the intestines are exposed to amniotic fluid during pregnancy. The defect in the abdominal wall may also compress the mesentery and impair the intestinal blood supply. There is a varying degree of intestinal damage at birth. Complex gastroschisis is defined as gastroschisis with severe complications such as intestinal atresia, volvulus, necrosis and perforation. The aim of this study was to investigate long-term gastrointestinal morbidity and compare simple and complex cases. METHODS: A nation-wide retrospective cohort study with data from national registers was conducted. All children born with gastroschisis in Sweden from 1 January 1997 to 31 December 2016 were included in the study. Exposure was complex gastroschisis and the primary outcomes were intestinal failure and bowel obstruction. RESULTS: The study included 315 cases with gastroschisis, 260 classifieds as simple gastroschisis and 55 as complex. The median time to follow was 8 years. A significantly higher risk of developing intestinal failure (hazard ratio: 11.7) was found in complex cases. Nine percent of the complex cases underwent autologous gastrointestinal reconstructive surgery for intestinal failure, none of the simple cases did. The complex cases had a higher risk for bowel obstruction (hazard ratio: 4.3) with a higher proportion requiring surgery (18.2% vs. 6.9%) compared to simple cases. CONCLUSIONS: This nationwide study showed that the risk for intestinal failure and bowel obstruction is significantly higher for children with complex gastroschisis compared to simple gastroschisis. Most of the events occurred during the first 2 years of life.
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OBJECTIVE: Congenital Diaphragmatic Hernia (CDH) associated with hydrops is rare. The aim of this study was to describe the incidence of this combination of anomalies and the postnatal outcomes from a large database for CDH. STUDY DESIGN: Data from the multicenter, multinational database on infants with prenatally diagnosed CDH (CDHSG Registry) born from 2015 to 2021 were analyzed. RESULTS: A total of 3985 patients were entered in the registry during the study period, 3156 were prenatally diagnosed and 88 were reported to have associated fluid in at least 1 compartment, representing 2.8% of all prenatally diagnosed CDH cases in the registry. The overall survival to discharge for CDH patients with hydrops was 43%. The hydropic CDH group had lower birth weight and gestational age at birth, and increased incidence of right-sided CDH (55%), and rate of non-repair (45%). However, the survival rate for hydropic infants with CDH undergoing surgical repair was 80%. Other associated anomalies were more common in hydropic CDH (50% vs 37%, p = 0.001). CONCLUSION: Hydropic CDH is rare, only 2.8% of all prenatally diagnosed cases, and more commonly occurring in right-sided CDH. Survival rates are low, with higher rates of non-repair. However, decision-making regarding goals of care and an aggressive surgical approach in selected cases may result in survival rates comparable to non-hydropic cases.
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BACKGROUND: Controlled outcomes into adulthood for females with anorectal malformation (ARM) are still scantily studied. The primary aim was to investigate bowel function, bladder function and health-related quality of life (HRQoL) in females operated for ARM. METHODS: A cross-sectional questionnaire-based observational study was performed including females treated for ARM at our institution between 1994 and 2017. The bowel function was assessed with bowel function score (BFS) and urinary tract function with lower urinary tract symptoms (LUTS) questionnaires. HRQoL was investigated with validated age-dependent questionnaires. Patient characteristics were retrospectively retrieved from the medical records and descriptive statistics were used for analysis. HRQoL outcomes were compared with normative data whilst bowel and bladder function outcomes were compared to age-matched female controls. RESULTS: Forty-four (41.5 %) of 106 females responded to the questionnaires. Ten of 29 patients (34.5 %) aged 4-17 years and 4 of 14 patients (28.6%) aged ≥18 years, reported a well-preserved bowel function (BFS≥17). Constipation issues decreased with age. BFS was similar in patients with perineal and vestibular fistulas. Thirty-six (83.7%) of the patients had at least one LUTS. No adult patients had issues with involuntary urinary leakage. Adults scored significantly (p = 0.004) lower than normative data regarding HRQoL, while children and adolescents scored comparably to norm data. CONCLUSIONS: Only 28.6 % of the adult patients reported a well-preserved bowel function, similar to the proportion reported by children 4-17 years of age. Adult patients appear to have a diminished HRQoL, however the correlation with BFS was weak. LEVEL OF EVIDENCE: III.
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Malformaciones Anorrectales , Calidad de Vida , Humanos , Femenino , Malformaciones Anorrectales/cirugía , Estudios Transversales , Adolescente , Niño , Preescolar , Adulto , Estudios Retrospectivos , Adulto Joven , Estreñimiento/etiología , Síntomas del Sistema Urinario Inferior/cirugía , Síntomas del Sistema Urinario Inferior/etiología , Encuestas y Cuestionarios , Resultado del TratamientoRESUMEN
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.
It is known that Crohn's disease is associated with dysbiosis in the gut microbiota and that primary bile acids are transformed to secondary bile acids by bacterial enzymes in the gut before reabsorbed and transported back to the liver.In this cross-sectional study, Crohn's disease was associated with lower concentrations of secondary bile acids in blood plasmaThe findings should encourage further studies the role of the gut microbiome and bile acid metabolism in development of Crohn's disease and bile acid profile as a biomarker for bowel inflammation.
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Ácidos y Sales Biliares , Enfermedad de Crohn , Humanos , Enfermedad de Crohn/sangre , Ácidos y Sales Biliares/sangre , Masculino , Femenino , Estudios Transversales , Adulto , Persona de Mediana Edad , Estudios de Casos y Controles , Suecia , Colonoscopía , Modelos Lineales , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
The variation in standardized, well-defined parameters in Hirschsprung's disease (HSCR) research hinders overarching comparisons and complicates evaluations of care quality across healthcare settings. This review addresses the significant variability observed in these parameters as reported in recent publications. The goal is to compile a list of commonly described baseline characteristics, process and outcome measures, and to investigate disparities in their utilization and definitions. A systematic review of literature on the primary care process for HSCR was performed according to PRISMA guidelines. Relevant literature published between 2015 and 2021 was obtained by combining the search term "Hirschsprung's disease" with "treatment outcome," "complications," "mortality," "morbidity," and "survival" in Medline, Embase, and the Cochrane Library. We extracted study characteristics, reported process and outcome parameters, and patient and disease characteristics. We extracted 1,026 parameters from 200 publications and categorized these into patient characteristics (n = 226), treatment and care process characteristics (n = 199), and outcomes (n = 601). A total of 116 parameters were reported in more than 5% of publications. The most frequently reported characteristics were sex (88%), age at the time of surgery (66%), postoperative Hirschsprung-associated enterocolitis (64%), type of repair (57%), fecal incontinence (54%), and extent of aganglionosis (51%). This review underscores the pronounced variation in reported parameters within HSCR studies, highlighting the necessity for consistent, well-defined measures and reporting systems to foster improved data interpretability. Moreover, it advocates for the use of these findings in the development of a Core Indicator Set, complementing the recently developed Core Outcome Set. This will facilitate quality assessments across pediatric surgical centers throughout Europe.
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Enterocolitis , Incontinencia Fecal , Enfermedad de Hirschsprung , Humanos , Enterocolitis/complicaciones , Incontinencia Fecal/etiología , Enfermedad de Hirschsprung/complicaciones , Enfermedad de Hirschsprung/cirugía , RectoRESUMEN
BACKGROUND: Specific variations of short chain fatty acids in fecal samples have been shown for patients with inflammatory bowel disease. The aim of this study was to assess if Crohn's disease and ulcerative colitis are associated with altered concentrations of short chain fatty acids also in blood plasma. METHOD: Between 2016-2019, Swedish adults referred to a tertiary center for colonoscopy were asked to participate in a cross-sectional study. Individuals with Crohn's disease or ulcerative colitis as well as individuals with no findings on the colonoscopy (defined as clean colon) were included in the study. Data on colonoscopy findings, blood samples (including haemoglobin, C-reactive protein and short chain fatty acid analysis) as well as a validated lifestyle questionnaire including 277 questions were collected from all participants. Linear regression was used to compare mean concentrations of short chain fatty acids between Crohn's disease, ulcerative colitis and clean colon. RESULTS: The cohort consisted of 132 individuals with Crohn's disease, 119 with ulcerative colitis and 205 with clean colon. In the crude model, succinic acid was significantly lower (p < 0.05) among patients with Crohn's disease (mean 3.00 µM SE 0.10) and ulcerative colitis (mean 3.13 µM SE 0.10) in comparison to clean colon (mean 3.41 µM SE 0.08), however when adjusting for sex, age and diet the results did not remain statistically significant. No differences in plasma concentration of the other measured short chain fatty acids were detected. CONCLUSION: Crohn's disease and ulcerative colitis are not associated with altered short chain fatty acid concentrations in plasma. Further research is needed to confirm or refute our findings.
In this cross-sectional study including individuals with inflammatory bowel disease and healthy subjects we found no association between Crohn's disease and ulcerative colitis and short chain fatty acid concentrations in plasma.
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Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Adulto , Humanos , Enfermedad de Crohn/diagnóstico , Colitis Ulcerosa/diagnóstico , Estudios Transversales , Enfermedades Inflamatorias del Intestino/diagnóstico , Ácidos Grasos VolátilesRESUMEN
AIM OF THE STUDY: Children with omphalocele have an increased prevalence of Beckwith Wiedemann syndrome (BWS) and thus a suspected increased risk of developing embryonal tumors, e.g. Wilms tumor, hepatoblastoma, neuroblastoma and rhabdomyosarcoma. The aim of this study was to examine the prevalence of BWS and the risk of embryonal tumors amongst patients born with omphalocele. METHODS: A population-based cohort was used, including all children born in Sweden 1/1 1997-31/12 2016. Patients with omphalocele were identified through the Swedish National Patient Register and the Swedish Medical Birth Register. For each case of omphalocele ten age and sex matched individuals unexposed for omphalocele were randomly selected for comparison. Data on BWS and embryonal tumors were collected from the Swedish National Patient Register and the Swedish National Cancer Register. MAIN RESULTS: Out of 207 cases of omphalocele, 15 (7.2%) were diagnosed with BWS. None of the children with omphalocele had yet developed any kind of embryonal tumor (median follow-up time 8 years). None of the 2070 controls were diagnosed with BWS but 3 (0.1%) of them had developed embryonal tumors during a median follow-up time of 10 years. CONCLUSIONS: In this study the prevalence of BWS amongst children born with omphalocele is in the lower range of previously reported figures. Also, the prevalence of embryonal tumors amongst children with BWS is lower than expected and the risk of embryonal tumors in children with omphalocele and BWS might not be as high as previously stated. This must be taken into consideration when counseling parents prenatally. TYPE OF STUDY: National register cohort study. LEVEL OF EVIDENCE: II.
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BACKGROUND: The aim of this study was to assess fertility in patients treated for Hirschsprung's disease. METHODS: This was a nationwide, population-based cohort study, including all patients with Hirschsprung's disease registered in the Swedish National Patient Register between 1964 and 2004. Five age- and sex-matched controls per patient were randomly selected by Statistics Sweden. Outcome data were retrieved from the Multi-Generation Register, and the Swedish National Patient Register. Study exposure was Hirschsprung's disease and the primary outcome was fertility, defined as having one or more children. Individuals with chromosomal anomalies were excluded. RESULTS: The study cohort comprised 597 patients with Hirschsprung's disease (143 female) and 2969 controls (714 female). The mean(s.d.) age at follow-up was 29.6(10.0) years for patients and 29.8(10.1) years for the controls. A total of 191 (32.0 per cent) patients compared with 1072 (36.1 per cent) controls had one or more children (P = 0.061). The analysis showed that fewer female patients with Hirschsprung's disease had a child (29.4 versus 38.7 per cent, P = 0.037), they were older when they gave birth to their first child (28.1 versus 26.4 years, P = 0.033), and they had fewer children. Of the female patients with Hirschsprung's disease, 19 (45.2 per cent) had only one child, compared with 79 (28.6 per cent) of the female control group (P = 0.047). No difference was noted in the male group in this regard. CONCLUSION: Female patients with Hirschsprung's disease were less likely to have a child, had fewer children, and were older when they gave birth to their first child compared with the controls, indicating impaired fertility. There was no significant difference between male patients with Hirschsprung's disease and controls.
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Enfermedad de Hirschsprung , Femenino , Humanos , Masculino , Estudios de Cohortes , Suecia/epidemiología , Adulto Joven , AdultoRESUMEN
AIM: The aim of this study was to investigate the association between juvenile appendicitis, treated conservatively or with appendectomy, and adult risk of inflammatory bowel disease (IBD), either ulcerative colitis (UC) or Crohn's disease (CD). We used nationwide population data from more than 100,000 individuals followed for over four decades. METHOD: All Swedish patients discharged with a diagnosis of appendicitis before the age of 16 years between 1973 to 1996 were identified. Everyone diagnosed with appendicitis was matched to an individual in the general population without a history of juvenile appendicitis (unexposed) of similar age, sex and region of residence. The study population was retrospectively followed until 2017 for any development of UC or CD. Cox proportional-hazards models compared disease-free survival time between exposed and unexposed individuals, also analysing the impact of treatment (conservative treatment versus appendectomy). RESULTS: The final cohort consisted of 52,391 individuals exposed to appendicitis (1,674,629 person years) and 51,415 unexposed individuals (1,638,888 person years). Childhood appendicitis with appendectomy was associated with a significantly lower risk of adult IBD [adjusted hazard ratio (aHR) 0.48 (0.42-0.55)], UC [aHR 0.30 (0.25-0.36)] and CD [aHR 0.82 (0.68-0.97)]. Those treated conservatively had a lower risk of adult UC [aHR 0.29 (0.12-0.69)] but not CD [aHR 1.12 (0.61-2.06)] compared with unexposed individuals. CONCLUSION: Juvenile appendicitis treated with appendectomy was associated with a decreased risk of adult IBD, both UC and CD. Those treated conservatively instead of with surgery had a lower risk of UC only. Our findings warrant more research on the role of the appendix and gut microbiota in the pathogenesis of IBD.
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Apendicitis , Colitis Ulcerosa , Enfermedad de Crohn , Enfermedades Inflamatorias del Intestino , Adolescente , Adulto , Apendicitis/epidemiología , Apendicitis/etiología , Apendicitis/cirugía , Niño , Estudios de Cohortes , Colitis Ulcerosa/epidemiología , Colitis Ulcerosa/etiología , Colitis Ulcerosa/terapia , Enfermedad de Crohn/epidemiología , Enfermedad de Crohn/etiología , Enfermedad de Crohn/terapia , Humanos , Enfermedades Inflamatorias del Intestino/complicaciones , Enfermedades Inflamatorias del Intestino/epidemiología , Enfermedades Inflamatorias del Intestino/terapia , Estudios Retrospectivos , Factores de Riesgo , Suecia/epidemiologíaRESUMEN
PURPOSE: The increase in prenatal diagnosis together with the high rates of associated anomalies in omphalocele has led to increased rates of termination of pregnancies. The aim of this study was to examine the national Swedish birth prevalence and survival rates among these patients. METHODS: This study is based on a nationwide population-based cohort of all children born in Sweden between 1/1/1997 and 31/12/2016. All omphalocele cases were identified though the Swedish National Patient Register and the Swedish Medical Birth Register. Outcome of malformations and deaths were retrieved from the Swedish Birth Defects Register and the Swedish Causes of Death Register. RESULTS: The study included 207 cases of omphalocele (42% females). The birth prevalence for omphalocele was 1/10,000 live births. About 62% of the cases had associated malformations and/or genetic disorders; most common was ventricular septal defect. The mortality within the first year was 13%. The rate of termination of pregnancy was 59%. CONCLUSION: The national birth prevalence for omphalocele in Sweden is 1/10,000 newborn, with high termination rates. Over half of the pregnancies with prenatally diagnosed omphalocele will be terminated. Among those who continue the pregnancy, 1-year survival rates are high. TYPE OF STUDY: National register study LEVEL OF EVIDENCE: III.
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Hernia Umbilical , Niño , Femenino , Hernia Umbilical/epidemiología , Humanos , Recién Nacido , Masculino , Tamizaje Masivo , Embarazo , Diagnóstico Prenatal , Prevalencia , Suecia/epidemiologíaRESUMEN
AIM: An increased incidence has been reported for the congenital abdominal wall defect gastroschisis. The reason for this increasing trend is not known, nor the aetiology. The aim of this study was to examine the national birth prevalence in Sweden, the termination rate, associated anomalies and the mortality of gastroschisis within the cohort. METHODS: A nationwide, population-based descriptive study of children born with gastroschisis in Sweden between 1/1 1997 and 31/12 2016 was conducted. The cohort was collected from the Swedish Medical Birth Register and the Swedish National Patient Register. Several other national registers were then interlinked to identify outcome data. RESULTS: The study included 361 cases of gastroschisis, 54% female. The birth prevalence was 1.52 in 10,000 live births. The termination rate was 21%. The mortality within the cohort was 4.4% with a 1-year mortality of 3.9%. Most frequent associated anomalies were gastrointestinal (11.4%), musculoskeletal (9.8%) and cardiovascular anomalies (7.9%). CONCLUSION: During the 20-year study period, a stable birth prevalence of 1.52 per 10 000 live births was seen in Sweden. The mortality was low, 4.4%, but the termination of pregnancies was high, 21%. Almost one-third had associated congenital anomalies where gastrointestinal anomalies were the most common.
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Gastrosquisis , Niño , Femenino , Gastrosquisis/epidemiología , Humanos , Incidencia , Masculino , Parto , Embarazo , Prevalencia , Suecia/epidemiologíaRESUMEN
The pathogenesis of Hirschsprung disease is complex. Although the RET proto-oncogene is the most frequently affected gene in Hirschsprung disease, rare coding sequence variants explain only a small part of Hirschsprung disease cases. We aimed to assess the genetic background of Hirschsprung disease using a genome-wide association analysis combined with sequencing all RET exons in samples from 105 Hirschsprung disease cases (30 familial and 75 sporadic) and 386 controls. As expected, variants in or near RET showed the strongest overall association with Hirschsprung disease and the most statistically significant association was observed when using a recessive genetic model (rs2435357, NC_000010.10:g.43582056Tâ¯>â¯C; genotype TT, ORâ¯=â¯17.31, Pâ¯=â¯1.462â¯×â¯10-21). Previously published associations in variants in SEMA (rs11766001, NC_000007.13:g.84145202Aâ¯>â¯C; allele C, ORâ¯=â¯2.268, Pâ¯=â¯0.009533) and NRG1 (rs4541858, NC_000008.10:g.32410309Aâ¯>â¯G; allele G, ORâ¯=â¯1.567, Pâ¯=â¯0.015; rs7835688, NC_000008.10:g.32411499Gâ¯>â¯C; allele C, ORâ¯=â¯1.567, Pâ¯=â¯0.015) were also replicated in the genome-wide association analysis. Sequencing revealed a total of 12 exonic RET rare variants. Of these, eight amino acid changing rare variants and two frameshift variants caused or possibly caused Hirschsprung disease. Only a minority of the Hirschsprung disease cases (9/30 familial; 7/75 sporadic) carried one of the rare variants. Excluding the rare variant carriers from the genome-wide association analysis did not appreciably change the association of rs2435357 with Hirschsprung disease. We estimate that approximately two thirds of the sporadic cases may be statistically attributed to the recessive action of the common non-coding RET variants. Thus, even though most cases do not carry rare RET variants, combinations of rare variants and the common non-coding RET variant cause the majority of the cases in our population.
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Enfermedad de Hirschsprung/genética , Polimorfismo de Nucleótido Simple , Proteínas Proto-Oncogénicas c-ret/genética , Exones , Femenino , Mutación del Sistema de Lectura , Frecuencia de los Genes , Humanos , Masculino , Neurregulina-1/genética , Proto-Oncogenes Mas , Semaforinas/genéticaRESUMEN
OBJECTIVES: Hirschsprung disease (HSCR) has previously been associated with inflammatory bowel disease (IBD). There are no data to show how common this association is. The aim of the present study was to assess the risk of IBD 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 IBD. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and 10 age- and sex-matched controls per patient, randomly selected from the Swedish Population Register. Individuals with IBD were identified in the Swedish National Patient Register. Data were validated by checking for relevant surgical procedures, and, or prescription of drugs for IBD registered in the Swedish Drug Registry. RESULTS: The cohort comprised 739 individuals with HSCR (565 boys) and 7390 controls (5650 boys). The median age at diagnosis of IBD was not different between the groups; 19 years (5-34) versus 21 years (7-37), Pâ=â0.21. Twenty of the 739 individuals with HSCR and 41 of the 7390 controls had IBD, odds ratio 4.99, and 95% confidence interval 2.85 to 8.45. In the exposed group, 15 individuals had Crohn disease and 5 ulcerative colitis at their latest admission compared to 18 individuals with Crohn disease and 23 with ulcerative colitis in the unexposed group, Pâ=â0.030. CONCLUSION: There is an increased risk of IBD in patients with HSCR, which should be considered in clinical practice.
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Enfermedad de Hirschsprung/complicaciones , Enfermedades Inflamatorias del Intestino/etiología , Adolescente , Adulto , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Modelos Logísticos , Masculino , Oportunidad Relativa , Sistema de Registros , Factores de Riesgo , Suecia , Adulto JovenRESUMEN
PURPOSE: Hirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort. METHODS: This was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was death. 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. Mortality and cause of death were assessed using the Swedish National Causes of Death Register. RESULTS: The cohort comprised 739 individuals with HSCR (565 male) and 7390 controls (5650 male). Median age of the cohort was 19 years (range 2-49). Twenty-two (3.0%) individuals with HSCR had died at median age 2.5 years (range 0-35) compared to 49 (0.7%) controls at median age 20 years (0-44), p < 0.001. Hazard ratio for death in HSCR patients compared to healthy controls was 4.77 (confidence interval (CI) 95% 2.87-7.91), and when adjusted for Down syndrome, the hazard ratio was 3.6 (CI 95% 2.04-6.37). CONCLUSIONS: The mortality rate in the HSCR cohort was 3%, which was higher than in controls also when data were adjusted for Down syndrome.
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Predicción , Enfermedad de Hirschsprung/mortalidad , Vigilancia de la Población/métodos , Sistema de Registros , Adolescente , Adulto , Causas de Muerte/tendencias , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Tasa de Supervivencia/tendencias , Suecia/epidemiología , Adulto JovenRESUMEN
BACKGROUND AND OBJECTIVES: Hirschsprung disease (HSCR) is a congenital defect of the enteric nervous system characterized by a lack of ganglion cells in the distal hindgut. The aim of this study was to assess the birth prevalence, perinatal characteristics, and maternal risk factors in HSCR patients in Sweden. METHODS: This was a nationwide, population-based, case-control study of all children born in Sweden between 1982 and 2012 and registered in the Swedish Medical Birth Register. Cases were identified in the Swedish National Patient Register and data on potential maternal risk factors and patient characteristics were collected from the Swedish National Patient Register and the Swedish Medical Birth Register. Five age- and sex-matched controls were randomly selected for each case. The association between studied risk factors and HSCR was analyzed using conditional logistic regression to calculate the odds ratio (OR) and 95% confidence interval (CI). RESULTS: The study population comprised 600 HSCR cases and 3000 controls with a male-to-female ratio of 3.7:1. The birth prevalence of HSCR was 1.91/10 000. Maternal obesity was associated with an increased risk for the child to have HSCR (OR 1.74; CI 1.25-2.44). Children with HSCR were born at an earlier gestational age (OR 1.60; CI 1.18-2.17) than control children. Associated malformations were identified in 34.5% of the cases. CONCLUSIONS: This study showed that the Swedish birth prevalence of HSCR was 1.91/10 000. Children with HSCR disease were born at a lower gestational age than controls. Maternal obesity may increase the risk for the child to have HSCR.