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Cystic fibrosis is a multisystem disorder, and gastrointestinal (GI) disease contributes significantly to its morbidity. This review outlines the major gastrointestinal manifestations of CF, and highlights areas of common misunderstanding. Areas particularly important to practice, such as impact upon malabsorption, bowel obstruction and gastro-oesophageal reflux are considered in detail. The impact of new CFTR modulator therapies on CF-related GI conditions is discussed and treatment options for individual pathologies is discussed. [ABSTRACT FROM AUTHOR]

Background: Imerslund-Gräsbeck syndrome (IGS) is an autosomal recessive disorder characterized by selective vitamin B12 malabsorption, resulting in vitamin B12 deficiency and impaired reabsorption of proximal tubular proteins.This case highlights a previously unidentified compound heterozygous variant in the Amnionless (AMN) gene that causes IGS syndrome and underscores the importance of long-term oral vitamin B12 replacement therapy in managing the condition. Case presentation: In this retrospective analysis, we present the clinical data of a 3-year and 6-month-old female child diagnosed with IGS at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China, in November 2018. The child was admitted to the hospital due to a history of anemia persisting for over a month. There was no previous significant medical history. The admission examination revealed megaloblastic anemia with proteinuria. Serum vitamin B12 levels were decreased, while folic acid and renal function were normal. The patient was diagnosed with megaloblastic anemia and started long-term oral vitamin B12 replacement therapy. Throughout the follow-up period, blood tests consistently showed normal results, while proteinuria persisted. In November 2019, the child and her parents underwent whole exome sequencing analysis, which revealed a novel compound heterozygous variant in the AMN gene: c.162 + 1G > A and c.922 C > T (p.Q308X) in the child, c.162 + 1G > A in the father, and c.922 C > T (p.Q308X) in the mother. Therefore, this child was further diagnosed with IGS. Conclusions: In this case, whole exome sequencing proves to be highly practical in daily healthcare for diagnosing and refining rare or ultra-rare diseases with ambiguous phenotypes or genetic diversity. It is also valuable for prognostic evaluation and personalized management. Additionally, the oral vitamin B12 treatment demonstrated positive clinical effects for the child, offering a new option for patients unable to undergo intramuscular vitamin B12 replacement therapy. [ABSTRACT FROM AUTHOR]

Exhaled breath tests (BTs) are the main diagnostic method for fructose and lactose malabsorption/intolerance (FI and LI, respectively) and for detecting small intestine bacterial or methanogen overgrowth (SIBO/IMO). Although FI/LI-BTs may provide evidence of the presence of SIBO/IMO, there is limited literature evaluating their reliability for this purpose. The objective of this study was to assess the sensitivity and specificity of FI/LI-BTs in detecting SIBO and their concordance with SIBO-BTs in the identification of IMO. In this retrospective observational study, FI/LI-BTs and SIBO-BTs performed in the same patients within a period of 6 weeks were selected from 652 gas chromatography-based BTs. A total of 146 BTs from 67 eligible adult patients were identified. LI-BTs had higher specificity than FI-BT in detecting SIBO (93.8 % vs. 72.7 %). In contrast, FI-BTs showed higher sensitivity (60.0 % vs. 28.6 %) as FI was more frequently established in SIBO-positive patients (70 % vs. 29 %). With regard to IMO, concordance with LI-BT was 100 %, with a 27 % of false negatives on FI-BTs. Findings suggestive of SIBO or IMO on LI-BTs were highly consistent with those of SIBO-BTs. In contrast, the rate of false positives for SIBO and the rate of false negative for IMO on FI-BTs was 27 % in both cases. [ABSTRACT FROM AUTHOR]

Background: Malabsorption syndrome affects millions of people in the world and is mostly associated with gastrointestinal (GI) symptoms like pain abdomen, bloating, flatulence, diarrhoea and some extra intestinal manifestations like iron deficiency anaemia, growth retardation, muscle cramps etc. The aetiology of malabsorption varies according to the age of the patient and geographical location. Aims and Objectives: To study morphological spectrum of duodenal biopsies in patients presenting with symptoms of malabsorption and to correlate the histopathological findings with endoscopic findings and relevant laboratory parameters where ever possible. Material and Methods: A retro prospective study was done for a period of 3 years and 6 months from January 2019 till October 2022. The study included75 presenting with signs and symptoms of malabsorption. Patients with history of major gastrointestinal surgery were excluded from the study. Result and Analysis: The patients had a mean age (32.8) years, with male: female ratio to be 04: 1, the most common presenting complaint was pain abdomen (72%) followed by anaemia under evaluation. (24%) The commonest diagnosis in the study was celiac disease (33. 3%). A good correlation was established with Endoscopic and laboratory findings as (45. 27%) cases showed abnormal findings and serological findings (Anti TTG levels) correlated well with celiac disease. Conclusion: Duodenal biopsy is a useful parameter in corroborating a diagnosis in patients presenting with symptoms of malabsorption. However, significant correlation of biopsy with endoscopic, serologic and hematologic parameters is of utmost importance to reach a final diagnosis. [ABSTRACT FROM AUTHOR]

Bariatric surgery is an important weight loss tool in individuals with severe obesity. It is currently the most effective long-term weight loss treatment that lowers obesity-related comorbidities. It also has significant physiological and nutritional consequences that can result in gastrointestinal complications and micronutrient deficiencies. After gastric bypass, clinical events that negatively affect nutritional status include malabsorption, dumping syndrome, kidney stones, altered intestinal bile acid availability, bowel obstruction, ulcers, gastroesophageal reflux, and bacterial overgrowth. Risk factors for poor nutritional status and excessive loss of lean body mass and bone include reduced dietary quality and inadequate intake, altered nutrient absorption, and poor patient compliance with nutrient supplementation. There are unique concerns in adolescents, older individuals, and individuals who become pregnant postoperatively. With careful management, health-care professionals can assist with long-term weight loss success and minimize the risk of acute and long-term nutrition complications after bariatric surgery. [ABSTRACT FROM AUTHOR]

While food is essential for survival, it can also cause a variety of harmful effects, ranging from intolerance to specific nutrients to celiac disease and food allergies. In addition to nutrients, foods contain myriads of substances that can have either beneficial or detrimental effects on the animals consuming them. Consequently, all animals evolved defense mechanisms that protect them from harmful food components. These "antitoxin" defenses have some parallels with antimicrobial defenses and operate at a cost to the animal's fitness. These costs outweigh benefits when defense responses are exaggerated or mistargeted, resulting in adverse reactions to foods. Additionally, pathological effects of foods can stem from insufficient defenses, due to unabated toxicity of harmful food components. We discuss the structure of antitoxin defenses and how their failures can lead to a variety of adverse food reactions. [ABSTRACT FROM AUTHOR]

Following a request from the European Commission, the EFSA Panel on Nutrition, Novel Foods and Food Allergens (NDA) was asked to deliver a scientific opinion on the revision of the tolerable upper intake level (UL) for vitamin E. As α‐tocopherol is recognised as the only essential form of vitamin E, the Panel restricted its evaluation to α‐tocopherol. Systematic reviews of the literature were conducted to assess evidence on priority adverse health effects of excess intake of vitamin E, namely risk of impaired coagulation and bleeding, cardiovascular disease and prostate cancer. The effect on blood clotting and associated increased risk of bleeding is considered as the critical effect to establish an UL for vitamin E. No new evidence has been published that could improve the characterisation of a dose–response. The ULs for vitamin E from all dietary sources, which were previously established by the Scientific Committee on Food, are retained for all population groups, i.e. 300 mg/day for adults, including pregnant and lactating women, 100 mg/day for children aged 1–3 years, 120 mg/day for 4–6 years, 160 mg/day for 7–10 years, 220 mg/day for 11–14 years and 260 mg/day for 15–17 years. A UL of 50 mg/day is established for infants aged 4–6 months and a UL of 60 mg/day for infants aged 7–11 months. ULs apply to all stereoisomeric forms of α‐tocopherol. ULs do not apply to individuals receiving anticoagulant or antiplatelet medications (e.g. aspirin), to patients on secondary prevention for CVD or to patients with vitamin K malabsorption syndromes. It is unlikely that the ULs for vitamin E are exceeded in European populations, except for regular users of food supplements containing high doses of vitamin E. [ABSTRACT FROM AUTHOR]

Iron deficiency (ID) and iron deficiency anemia (IDA) are significant global health challenges, accounting for 70% of anemia cases worldwide. IDA stems from factors such as poor iron intake, high physiological demands, chronic blood loss, and malabsorption. Effective management requires accurate diagnosis, addressing the underlying causes, and choosing appropriate treatments, including oral and intravenous (IV) iron supplements. Recent advances in IV iron therapy have introduced Ferric carboxymaltose (FCM), a third-generation IV iron product known for its stability, low risk of immunogenic reactions, and clinical effectiveness. FCM is particularly beneficial in treating ID associated with chronic heart failure, chronic kidney disease, pregnancy-related anemia, and perioperative anemia. Its ability to provide high-dose iron in a single infusion improves patient compliance and reduces healthcare costs. Most existing review articles focus exclusively on either the pharmacological properties or the clinical applications of FCM. This review aims to integrate both perspectives, providing a thorough overview of the pharmacological characteristics and clinical efficacy of FCM. This dual focus will demonstrate the clinical superiority of FCM among available IV iron preparations, positioning FCM as a highly dependable treatment for managing IDA. [ABSTRACT FROM AUTHOR]

The article provides brief information on the etiology and prevalence of necrotic enterocolitis in children, and shares the achievements and experience of studying this problem in recent years. Necrotic enterocolitis (NEC) in newborns is considered a serious disease and causes death in 30-50 % of children. The course of the disease depends on the severity and degree of maturity of the newborns. In recent years, perforation of the gastrointestinal tract, which is considered one of the most dangerous complications during NEC, continues to increase. At this time, the lethality increases to 40-80 %. Sometimes the death rate is 100 % in patients with more severe comorbidities. Higher lethality occurs in preterm infants with a body weight of less than 1000 grams and ranges from 45 to 100 %. NEK performed during the neonatal period directly affects the further development and health of children: complications such as short bowel syndrome and malabsorption occur in infants, while 36 % of them develop physical retardation and functional disturbances in the CNS. In these children, intestinal morphofunctional changes accompanied by pain syndrome, dyspeptic symptoms continue, intestinal microbiocenosis is significantly disturbed, and immunity decreases. [ABSTRACT FROM AUTHOR]

Avian orthoreviruses have become a global challenge to the poultry industry, causing significant economic impacts on commercial poultry. Avian reoviruses (ARVs) are resistant to heat, proteolytic enzymes, a wide range of pH values, and disinfectants, so keeping chicken farms free of ARV infections is difficult. This review focuses on the global prevalence of ARVs and associated clinical signs and symptoms. The most common signs and symptoms include tenosynovitis/arthritis, malabsorption syndrome, runting–stunting syndrome, and respiratory diseases. Moreover, this review also focused on the characterization of ARVs in genotypic clusters (I–VI) and their relation to tissue tropism or viral distribution. The prevailing strains of ARV in Africa belong to all genotypic clusters (GCs) except for GC VI, whereas all GCs are present in Asia and the Americas. In addition, all ARV strains are associated with or belong to GC I-VI in Europe. Moreover, in Oceania, only GC V and VI are prevalent. This review also showed that, regardless of the genotypic cluster, tenosynovitis/arthritis was the predominant clinical manifestation, indicating its universal occurrence across all clusters. Globally, most avian reovirus infections can be prevented by vaccination against four major strains: S1133, 1733, 2408, and 2177. Nevertheless, these vaccines may not a provide sufficient defense against field isolates. Due to the increase in the number of ARV variants, classical vaccine approaches are being developed depending on the degree of antigenic similarity between the vaccine and field strains, which determines how successful the vaccination will be. Moreover, there is a need to look more closely at the antigenic and pathogenic properties of reported ARV strains. The information acquired will aid in the selection of more effective vaccine strains in combination with biosecurity and farm management methods to prevent ARV infections. [ABSTRACT FROM AUTHOR]

Malabsorption syndromes represent a large group of diseases characterized by impaired intraluminal digestion or nutrient absorption and typically manifest as diarrhea, steatorrhea, bloating and/or failure to thrive. Some diseases may be accompanied by specific symptoms such as oedema, digital clubbing and perianal exanthema. This article aims to classify malabsorption syndromes based on recent findings and summarize their etiology, etiopathogenesis and clinical manifestation. We review current diagnostic and therapeutic approaches. In accordance with the section in which the text will be published, frequent nosological entities will be discussed. Rarer diseases (such as malabsorption due to graft versus host disease) will be mentioned briefly, we direct readers to relevant and detailed sources. [ABSTRACT FROM AUTHOR]

Copyright of Online Turkish Journal of Health Sciences (OTJHS) / Online Türk Sağlık Bilimleri Dergisi is the property of Oguz KARABAY and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]

Celiac disease (CD) is an autoimmune disorder with both environmental and genetic risk factors. CD manifests itself when food containing gluten is eaten. It causes malabsorption by damaging the villi in the small intestine. This leads to the question: How do gene variants lead to the pathogenesis of Celiac disease? Other studies include genome-wide association studies to recognize more genetic risk factors associated with CD. This paper reviews how gene variants show a risk for CD and lead to the development of CD. It will show the significance of looking at how certain genes can change our body functions to alter a big part of our digestive system and how it can help us discover other genes possibly related to celiac disease. [ABSTRACT FROM AUTHOR]

Background: Malabsorption syndrome is an umbrella term for manifestations consisting of diarrhea, steatorrhea, malnutrition, unexplained weight loss, persistent or recurrent abdominal pain, and anemia. Celiac disease and Tropical sprue remain the two important causes among many more. Materials and Methods: The objectives of this study were to assess the spectrum of histological features of malabsorption at a tertiary care center and to correlate the clinical, endoscopic, and histological features between the various etiologies. Biopsy specimens of 547 subjects formed the sample for this institutional-based, retrospective research. All subjects who had a clinical diagnosis of malabsorption and underwent subsequent endoscopic evaluation along with biopsy were considered. The hematoxylin and eosin-stained sections were analyzed for villous architecture and intraepithelial lymphocytes (IELs). The histopathological findings were further correlated with the endoscopic findings. Data thus obtained were statistically analyzed using Microsoft Excel for Windows (2010). Results: The mean age of the subjects was 46.65 ± 17.31 years and with 330 males (60.33%) and 217 female (39.63%) subjects. Chronic diarrhea was the major presenting symptom in 95% of the subjects (n = 520). Normal villous architecture was noted in 68.19%, while the remaining cases showed varying degrees of atrophy ranging from mild in 27.61% (n = 151) to moderate in 2.56% (n = 14) to severe in 1.65% (n = 9). IELs were noted in 70.78% of cases. Conclusion: Histopathological findings, when analyzed, showed intraepithelial lymphocytosis as the major diagnosis in 34.19% of cases (n = 187), followed by tropical sprue in 19.56% (n = 107) cases. The pathology was nonspecific in about 13.89% (n = 76). [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]

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]

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]

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]

• Hypobetalipoproteinemia disorders are characterized by lipid malabsorption. • There is no guidance about carotenoid supplementation in hypobetalipoproteinemias. • Carotenoid absorption is impaired in cells mimicking patient enterocytes. • Carotenoid plasma levels are dramatically low in patients compared to controls. • Evaluation of patient carotenoid status may help guide treatment. Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health. Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia. We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects. In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from –89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects. Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment. [ABSTRACT FROM AUTHOR]

Vitamin E is an important nutrient from the earliest stages of life. It plays key roles as an antioxidant and in the maintenance of the immune system, among others. Vitamin E deficiency (VED), which occurs more frequently in children, is rarely addressed in the literature. This narrative review aims to summarise the chemistry, biology, serum indicators and clinical trials that have evaluated the impact of fortification and other relevant aspects of vitamin E, in addition to the prevalence of its deficiency, in children worldwide. Vitamin E intake in recommended amounts is essential for this nutrient to perform its functions in the body. Serum α-tocopherol is the most widely used biochemical indicator to assess the prevalence of VED. VED has been associated with symptoms secondary to fat malabsorption and may lead to peripheral neuropathy and increased erythrocyte haemolysis. Reduced concentrations of α-tocopherol may be caused by the combination of diets with low amounts of vitamin E and inadequate consumption of fats, proteins and calories. The lowest prevalence of VED was found in Asia and the highest in North America and Brazil. High proportions of VED provide evidence that this nutritional deficiency is a public health problem in children and still little addressed in the international scientific literature. The planning, evaluation and implementation of health policies aimed at combatting VED in the paediatric population are extremely important. [ABSTRACT FROM AUTHOR]

BackgroundGlucose galactose malabsorption (GGM) is a congenital diarrheal disorder of intestinal Na+/glucose cotransport (SGLT1/SLC5A1). The required glucose and galactose-restricted diet has been well described in infancy, but long-term nutrition follow-up is limited.AimTo perform a comprehensive nutritional assessment on a cohort of patients with GGM to gain insights into the consumption patterns within the population.MethodsA cross-sectional study examining dietary intake of a GGM cohort using prospective food records. The calories and nutrients of all foods, beverages, and condiments were analyzed with descriptive statistics and compared to intake patterns of age- and sex-matched NHANES groups.ResultsThe six patients were 0.7-26 years old. Whole foods and vegetable fats were major parts of the diet, while dairy and added sweeteners were restricted. Compared to typical US intakes, mean macronutrient distribution was 88th percentile from fat, 18th percentile from carbohydrates, and 78th percentile from protein. Fructose consumption, as a proportion of total sugar intake, decreased with age, from 86.1 to 50.4%. Meanwhile, glucose consumption increased with age, from 13.8 to 48.6% of sugar intake. However, the actual amount of glucose consumed remained low, equivalent to 4th percentile of US consumption level. Galactose intake was marginal throughout life.ConclusionsA GGM diet is a high-fat and high-protein/low-carbohydrate diet that is rich in fruits and vegetables but limited in dairy and added sugar. Relatively less fructose but more glucose is incorporated into the diet with age. Future studies should investigate the effects of the GGM diet on gut microbiome and long-term health.