Browsing by Subject "Constipation"

Now showing 1 - 6 of 6
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    Anorectal malformation and Hirschsprung disease in an otherwise healthy infant
    (Elsevier, 2022-03) Rougraff , Audra; Grayson, Britney L.; Ladd, Alan P.; Pediatrics, School of Medicine
    Hirschsprung disease and anorectal malformations are two conditions that are rarely associated with one another. Current reports of anorectal malformations with concurrent Hirschsprung disease predominantly describe children with genetic syndromes or other chromosomal anomalies. This report describes a case of imperforate anus and Hirschsprung disease in an otherwise healthy patient highlighting the importance of considering Hirschsprung disease in any patient with stooling difficulties following anorectoplasty for anorectal malformation.
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    Associations of chronic diarrhoea with non-alcoholic fatty liver disease and obesity-related disorders among US adults
    (BMJ, 2019-08-12) Shin, Andrea; Xu, Huiping; Imperiale, Thomas F.; Medicine, School of Medicine
    Mechanisms explaining observed associations between diarrhoea and obesity or increased body mass index (BMI) are unclear. Objective: To assess associations of bowel patterns with BMI, metabolic syndrome (MS), non-alcoholic fatty liver disease (NAFLD) and other obesity-related disorders. Design: We performed a cross-sectional analysis of data from adults who completed bowel health questions for the 2005 to 2010 cycles of the National Health and Nutrition Examination Surveys. Relationships were examined using multinomial logistic regression. Confounding effects of demographics, smoking, alcohol and BMI were examined by sequential modelling. Results: Among 13 413 adults, weighted prevalence rates of constipation and diarrhoea were 8.9% and 6.6%, respectively. Mean BMI was associated with bowel patterns (p<0.001), and was higher with diarrhoea (30.3 kg/m2) versus normal bowel patterns (28.6 kg/m2) and with diarrhoea versus constipation (27.8 kg/m2). NAFLD was more prevalent (ORs, 95% CI) in diarrhoea versus normal bowel patterns (OR=1.34, 95% CI 1.01 to 1.78) or constipation (OR=1.45, 95% CI 1.03, 2.03) in adjusted analyses. The higher prevalence of MS in diarrhoea versus constipation (OR=1.27, 95% CI 0.97 to 1.67) was not independent of BMI. Conclusions: These findings suggest an association between diarrhoea and NAFLD that is independent of BMI.
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    Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants
    (Wolters Kluwer, 2021) Shibao, Cyndya A.; Joos, Karen; Phillips, John A., III.; Cogan, Joy; Newman, John H.; Hamid, Rizwan; Meiler, Jens; Capra, John; Sheehan, Jonathan; Vetrini, Francesco; Yang, Yaping; Black, Bonnie; Diedrich, André; Roberston, David; Biaggioni, Italo; Medical and Molecular Genetics, School of Medicine
    Objective: To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure. Methods: Two adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All 3 affected members had low norepinephrine levels and diffuse panautonomic failure. Results: Whole exome sequencing of DNA from I-4 and I-5 showed compound heterozygosity for c.907_908delCT (p.L303Dfs*115)/c.688 G>A (p.D230N) pathologic variants in the acetylcholine receptor, neuronal nicotinic, α3 subunit gene (CHRNA3). II-3 from the second family was homozygous for the same frameshift (fs) variant (p.L303Dfs*115//p.L303Dfs*115). CHRNA3 encodes a critical subunit of the nicotinic acetylcholine receptors (nAChRs) responsible for fast synaptic transmission in the autonomic ganglia. The fs variant is clearly pathogenic and the p.D230N variant is predicted to be damaging (SIFT)/probably damaging (PolyPhen2). The p.D230N variant lies on the interface between CHRNA3 and other nAChR subunits based on structural modeling and is predicted to destabilize the nAChR pentameric complex. Conclusions: We report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the CHRNA3 gene that cosegregate with and are predicted to be the likely cause of their diffuse panautonomic failure.
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    Hypothyroidism is a rare cause of isolated constipation
    (Wolters Kluwer, 2012-02) Bennett Jr., William E.; Heuckeroth, Robert O.; Department of Pediatrics, IU School of Medicine
    The prevalence of constipation in children is high and accounts for a large percentage of pediatric and pediatric gastroenterology visits. Thyroid testing is frequently ordered to evaluate constipation and other gastrointestinal complaints in children. We reviewed all patients with thyroid testing ordered by our pediatric gastroenterology division over a five-year period. We found 873 patients on whom thyroid testing was performed, and 56 had evidence of hypothyroidism. Nine patients had constipation and clinically significant hypothyroidism in this group. However, only one child had constipation as their sole presenting symptom. The contribution of occult hypothyroidism to isolated constipation in children may have been previously overestimated.
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    Increased Prevalence of Sensory Processing Issues in Pediatric Gastrointestinal Patient Population
    (Permanente Federation, 2022) Wood, Jessica K.; Garcia, Kara E.; Carey, Rebecca G.; Radiation Oncology, School of Medicine
    Background: Sensory processing dysfunction in children has been linked to attention-deficit/hyperactivity disorder, autism, feeding disorders, and functional abdominal pain. However, little is known about sensory processing in the broader pediatric gastroenterology population. Objective: To characterize frequency and type of sensory processing dysfunction seen in pediatric gastroenterology compared to a general pediatric population. Methods: The Short Sensory Profile 2 was administered to the parents of children ranging 3–14 years, being seen in a pediatric gastrointestinal (GI) subspecialty clinic or general pediatric clinic. Short Sensory Profile 2 scores from age- and gender-matched groups were compared with nonparametric statistics. Results: Sensory processing dysfunction was increased in children seen in the GI clinic compared to children in the general pediatric clinic. Short Sensory Profile 2 quadrant analysis revealed greatest differences in avoiding, primarily in young females of the GI population. Conclusion: Children presenting to a pediatric GI clinic demonstrate greater sensory processing dysfunction compared to children in a general pediatric practice.
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    Use of Sacral Nerve Stimulation for the Treatment of Overlapping Constipation and Fecal Incontinence
    (International Scientific Information, 2017-03-07) Sreepati, Gouri; James-Stevenson, Toyia; Department of Medicine, IU School of Medicine
    BACKGROUND Fecal incontinence and constipation are common gastrointestinal complaints, but rarely occur concurrently. Management of these seemingly paradoxical processes is challenging, as treatment of one symptom may exacerbate the other. CASE REPORT A 51-year-old female with lifelong neurogenic bladder secondary to spina bifida occulta presented with progressive symptoms of daily urge fecal incontinence as well as hard bowel movements associated with straining and a sensation of incomplete evacuation requiring manual disimpaction. Pelvic floor testing showed poor ability to squeeze the anal sphincter, which indicated sphincter weakness as a major contributor to her fecal incontinence symptoms. Additionally, on defecography she was unable to widen her posterior anorectal angle or relax the anal sphincter during defecation consistent with dyssynergic defecation. A sacral nerve stimulator was placed for management of her fecal incontinence. Interestingly, her constipation also dramatically improved with sacral neuromodulation. CONCLUSIONS This unique case highlights the emerging role of sacral nerve stimulation in the treatment of complex pelvic floor dysfunction with improvement in symptoms beyond fecal incontinence in a patient with dyssynergic-type constipation.