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Aims: To explore the relationship between nutritional intake, fermentable oligo‐, di, monosaccharides and polyols, and carbohydrate malabsorption, with gastrointestinal symptoms during a 56 km trail ultramarathon event and identify differences in nutritional intake between runners with severe and non‐severe gastrointestinal symptoms. Methods: Forty‐four ultramarathoners recorded and self‐reported dietary intake 3 days before, morning of, and during the ultramarathon with gastrointestinal symptoms obtained retrospectively and nutrient analysis via FoodWorks. Carbohydrate malabsorption was determined via breath hydrogen content pre‐ and post‐race. Spearman's rank‐order and Mann–Whitney U‐tests were used to identify relationships and differences between groups. Results: Total fermentable oligo‐, di, monosaccharides and polyols intake were not associated with gastrointestinal symptoms, but weak associations were observed for lower energy (rs = −0.302, p = 0.044) and fat intake (rs = −0.340, p = 0.024) 3 days before with upper gastrointestinal symptoms and higher caffeine intake 3 days before with overall gastrointestinal symptoms (rs = 0.314, p = 0.038). Total fermentable oligo‐, di‐, monosaccharides and polyols intake and breath hydrogen were not different between those with severe versus non‐severe symptoms (p > 0.05). Although those with severe symptoms had higher caffeine (p = 0.032), and total polyols intake (p = 0.031) 3 days before, and higher % energy from fat (p = 0.043) and sorbitol intake (p = 0.026) during the race, and slower ultramarathon finish times (p = 0.042). Conclusion: Total fermentable oligo‐, di‐, and monosaccharides intake and carbohydrate malabsorption were not associated with gastrointestinal symptoms. Additional research on the effect of fat, caffeine, and polyol intake on exercise‐associated gastrointestinal symptoms is warranted and presents new nutritional areas for consideration when planning nutritional intake for ultramarathoners. [ABSTRACT FROM AUTHOR]

Purpose Short bowel syndrome is a malabsorptive condition that occurs due to surgical removal or a congenital absence of a significant portion of the small intestine. Patients with short bowel syndrome often rely on parenteral support for extended periods or even their entire lives. Teduglutide, a glucagon-like peptide-2 analog, has shown promising results in reducing dependency on parenteral support in these patients by promoting intestinal adaptation and enhancing nutrient absorption. However, the long-term safety of teduglutide remains a concern, particularly with respect to its potential for the development of hyperamylasemia and hyperlipasemia. Methods This study involved patients who received teduglutide from December 2012 to December 2022 at Boston Medical Center. We evaluated outcomes and adverse events, focusing on hyperamylasemia and hyperlipasemia, through chart review. Results Thirteen eligible patients were identified who had used teduglutide. Of these, the majority (84.6%) experienced a reduction in parenteral support. A high incidence (72.7%) of nonpathological pancreatic enzyme elevation was observed in patients treated with teduglutide. These elevations were often dose dependent and were not associated with any clinical signs of acute pancreatitis or abnormal imaging findings. Conclusion This study highlights the need for further investigations into the long-term safety of teduglutide and the importance of closely monitoring amylase and lipase levels in patients undergoing treatment with teduglutide. [ABSTRACT FROM AUTHOR]

The immune regulator gene AIRE plays an essential role in the establishment of immune tolerance and the prevention of autoimmunity. This transcription factor plays a critical role in promoting self-tolerance in the thymus by regulating the expression of a large number of self-antigens that share the common feature of being tissue-restricted in their expression pattern in the periphery. Dysfunction of AIRE in humans causes a rare disease, autoimmune polyglandular syndrome type 1 (APS1), characterized by an autoimmune response against peripheral tissues, particularly endocrine tissues. Although a few dominant mutations have been described, the inactivation of AIRE is usually caused by recessive mutations. Recent data suggests that alterations in AIRE function contribute not only to APS1 but also to more common forms of autoimmune disease. Here, we present a previously unreported missense mutation (NM_000383.2:c.260 T > C) in exon 2 of the AIRE gene, predicted to cause the substitution (p.(Leu87Pro)) in the CARD domain of the AIRE protein. When inherited in conjunction with another dysfunctional AIRE allele, this mutation was associated with immune dysregulation in a pediatric patient. The presence of hypergammaglobulinemia, malabsorption syndrome, ectodermal dysplasia, mucocutaneous candidiasis, vitiligo, and hypothyroidism as well as the presence of multiple autoantibodies allowed us to confirm an APS1 diagnosis. [ABSTRACT FROM AUTHOR]

Background: The role of food in managing bile acid diarrhoea (BAD) is poorly understood. The present study explored the prevalence of food intolerance amongst adults with BAD. Methods: The study comprised a cross‐sectional survey of adults with BAD determined by the 75selenium homotaurocholic acid test (SeHCAT) living in the UK. Participants anonymously completed an online questionnaire on 39 food items. Frequency of food in general affecting BAD symptoms, as well as frequencies of diarrhoea, abdominal pain, bloating, flatulence and consequential food avoidance after food item ingestion, were assessed. Food group avoidance was also assessed. Results: There were 434 participants who completed the questionnaire between April and May 2021 of whom 80% reported moderate to severe chronic diarrhoea. Food intolerances were reported by 88.0% (95% confidence interval [CI] = 84.6–90.9) of participants. Diarrhoea was reported most frequently after take‐away food, fish and chips, creamy sauces, cream and large quantities of fruit (range 41.0%–33.6%). Lowest frequencies were for potato, avocado, mango, watermelon and pear (range 3.7%–7.4%) for the foods listed in the questionnaire. Similar trends were found for abdominal pain, bloating, flatulence and consequential food avoidance. Symptom‐triggering within 30 min of ingestion was more prevalence than after 30 min for almost all foods. Food group avoidance was highest for fatty foods (81.2%; 95% CI = 77.8–85.3) followed by dairy (53.9%; 95% CI = 49.1–58.7). Conclusions: Perceived food intolerance amongst adults with BAD and persisting diarrhoeal symptoms is high. Important triggers were meals with a higher fat content and higher‐fat dairy products. Diets amongst those with persisting diarrhoeal symptoms may be overly restrictive. Key points: This cross‐sectional online study identified a very high prevalence of perceived food intolerance amongst 434 UK adults living with self‐reported 75selenium homotaurocholic acid test (SeHCAT)‐diagnosed bile acid diarrhoea.Out of 39 foods explored, take‐aways and fish and chips were most frequently blamed for provoking overall gut symptoms and diarrhoea.Potato, avocado, mango, watermelon and pear were perceived to be the least frequently provocative for onset of diarrhoea, abdominal pain, bloating and flatulence.These findings indicate that further studies are needed to better understand the tolerance to dietary fat in bile acid diarrhoea, supporting the inclusion of lower‐fat milk and dairy products, fruits and vegetables. [ABSTRACT FROM AUTHOR]

Strongyloides stercoralis is an intestinal nematode which persists as chronic asymptomatic infection for several years. Clinical manifestations become apparent long after initial infection which includes non specific gastrointestinal (GI) symptoms like pain abdomen, nausea, vomiting, altered bowel habits or weight loss. Larval reproduction can lead to disseminated infection in the immunocompromised. Very rarely, hyperinfection or disseminated strongyloides can lead to ulceration, bleeding, small bowel obstruction, colitis or ascites. In severe cases, electrolyte disturbances and protein losing enteropathy may occur. We present a unique case of intestinal infestation of Strongyloides stercoralis in a 42-year-old immunocompetent male with a rare manifestation of protein losing enteropathy and dyselectrolytaemia without any GI symptoms at the outset, whose presentation was anasarca and initial investigations including work-up for cardiovascular, hepatic and renal causes of anasarca were unremarkable except for hypoalbuminaemia and electrolyte abnormalities and notable absence of peripheral eosinophilia. The diagnosis was arrived at by simple and conventional investigations like stool microscopy which demonstrated the Strongyloides larvae and upper GI endoscopy aided the biopsy which was confirmatory. He responded to appropriate medical treatment. Helminthic infestation should be kept in mind as a rare cause of malabsorption syndrome manifesting as protein losing enteropathy in a tropical and endemic country like India. These are treatable causes and respond to specific cost-effective antihelminthic treatments. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to find out frequency and risk factors of malabsorption in patients presenting at tertiary care hospital, Karachi. Methods: This was a prospective-observational study conducted through a non-probability consecutive sampling technique. Ninety two adult patients presenting with a history of chronic diarrhea (diarrhea having duration of more than four weeks), age ≥14 years, both males & females, and diagnosed as malabsorption syndrome visiting out-patient or admitted in the department of Gastroenterology of the Jinnah Postgraduate Medical Center, Karachi between June 2018 and July 2020 were enrolled. Baseline and clinical data were recorded in a pre-designed questionnaire and analyzed using statistical package for the social sciences (SPSS) version 21.0. Results: The overall mean age and standard deviation of patient was 35.42±10.83 years. Diarrhea n=71 (77.17%), fever n=35 (38.04%), abdominal pain n=32 (34.78%), and weight loss n=13 (14.13%) were the most common symptoms observed in our study subjects. Most of the patients had normal upper GI endoscopy (26.56%) while multiple fundal erosions with pre-pyloric ulcer and severe pangastric erythema & classical scalloping of duodenal folds were most common findings observed, 21.87% and 17.18%, respectively. Conclusion: Our study provides evidence that malabsorption syndrome is most commonly present in males with younger age group and the most common causes were celiac disease and intestinal tuberculosis and most common presentation was diarrhea, fever, and abdominal pain. [ABSTRACT FROM AUTHOR]

A group of diseases resulting from the abnormal aggregation of amyloid fibrils, mainly in the extracellular spaces of tissues, is known collectively as amyloidosis. Clinical presentations of gastrointestinal (GI) amyloidosis are mainly GI bleeding, malabsorption, protein-losing enteropathy, and dysmotility. Here, we describe an 87-year-old woman presenting with acute onset of sharp, constant, and non-radiating epigastric pain that was accompanied by nausea or vomiting. After a thorough investigation, we finally found an isolated jejunojejunal intussusception by laparotomy. The pathological study revealed massive small bowel involvement by amyloidosis in immunostaining. To our knowledge, this is the first report of small intestinal obstruction resulting from intussusception due to intraluminal amyloid polypoid nodules, as the first presentation of light-chain amyloidosis. Amyloidosis should be considered in old patients with intraluminal masses of the proximal small bowel. [ABSTRACT FROM AUTHOR]