Search Results (66)

Background: The long-term clinical and laboratory results of a 33-year follow-up of a Greek family with abetalipoproteinemia (ABL) are described. Case Report: The patients (two brothers and their sister, aged 57, 49, and 62 years, respectively) are still alive, being under close surveillance. In two of the three patients, diarrhea appeared in early infancy, while in the third, it appeared during adolescence. CNS symptomatology worsened after the second decade of life. At the same time, night blindness appeared in the advanced stages of the disease, resulting in almost complete loss of vision in one of the male patients and severe impairment in the other. The diagnosis was based on the clinical picture, ophthalmological findings, serum lipid estimations, and presence of peripheral acanthocytosis. All patients exhibited typical serum lipidemic profile, ophthalmological findings, and acanthocytes in the peripheral blood. During the follow-up period, strict dietary modifications were applied, including the substitution of fat with medium-chain triglycerides (MCT oil). After 33 years since the initial diagnosis, all patients are alive without any sign of liver dysfunction despite continuous use of MCT oil. However, symptoms from the central nervous system and vision impairment worsened. Conclusion: The course of these patients suggests that the application of a modified diet, including MCT oil, along with close surveillance, could prolong the survival of patients without significant side effects from the liver. Full article

The development of reversible animal models for the study of intestinal pathologies is essential to reduce the number of animals used in research and to better understand disease mechanisms. In this study, we present a reversible model of intestinal malabsorption through the administration of sublethal doses of ebulin-f, a ribosome-inactivating protein, and validate its usefulness by monitoring vitamin C absorption. The scientific community increasingly recognizes the importance of rationalizing experimental designs, optimizing treatment protocols, and minimizing the use of animals in research models. Thus, new methodologies are needed to minimize invasive sampling and to develop reversible animal models that recover physiologically post-study. Such models are essential for in vivo studies of human pathologies. Sublethal doses of ebulin-f (2.5 mg/kg) administered intraperitoneally to female Swiss CD1 mice (n = 6 per group) can cause reversible intestinal alterations in the small intestine, which offer the possibility of having a valuable reversible study model of malabsorption for the investigation of this syndrome. To verify whether nutrient absorption is altered, we used vitamin C as a traceable nutrient that can be quantified in the blood. Peripheral blood samples were collected through the retro-orbital area at 30, 80, 120, 180, and 1440 min post-administration, treated with DTT and MPA, and analyzed using a validated UV/Vis–HPLC method to indirectly determine vitamin C absorption by enterocytes. Pharmacokinetic analysis revealed significantly increased vitamin C absorption on days 1 and 3 post-treatment (AUC values of 3.65 × 10⁴ and 7.10 × 10⁴, respectively) compared to control (0.94 × 10⁴), with partial recovery by day 22 (3.27 × 10⁴). Blood concentration profiles indicate that intestinal damage peaks at day 3, followed by significant regeneration by day 22, establishing this as a viable reversible model for inflammatory bowel disease research. Full article

Background: Functioning gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are rare tumors that secrete biologically active hormones, leading to complex clinical syndromes such as carcinoid syndrome, VIPoma, glucagonoma, gastrinoma, insulinoma, and somatostatinoma. These syndromes frequently induce profound metabolic, gastrointestinal, and nutritional disturbances. Objective: This review aims to provide a comprehensive overview of the physiopathology of malnutrition in functioning GEP-NENs and to highlight nutritional and supportive care strategies, including how medical, surgical, and locoregional treatments can indirectly improve nutritional outcomes. Methods: We analyzed the current literature and clinical guidelines to identify key mechanisms of malnutrition across different functioning syndromes and their clinical manifestations. Nutritional recommendations and the impact of treatment modalities on nutritional status were summarized. Results: The pathophysiology of malnutrition in functioning NENs is multifactorial and syndrome-specific. Hormonal hypersecretion may cause diarrhea, electrolyte imbalances, catabolic states, steatorrhea, or hypoglycemia, among other effects. These lead to nutrient loss, malabsorption, or altered intake. Tailored dietary interventions, micronutrient supplementation (e.g., niacin, calcium, vitamin B12), and symptom-guided nutritional support are essential. Somatostatin analogs, PRRT, and cytoreductive approaches often contribute to symptom control, thereby enhancing nutritional status and patient quality of life. Conclusions: Malnutrition in functioning GEP-NENs is a significant clinical issue that requires early recognition and a multidisciplinary, individualized management plan. Integrating nutrition into the comprehensive care of these patients is essential to improve outcomes and quality of life. Full article

Background: Chronic intestinal failure (CIF), most commonly caused by short bowel syndrome (SBS), necessitates complex care. This review explores the gut microbiota’s role in intestinal adaptation in SBS, examining its potential as both a biomarker and therapeutic target. SBS results from extensive small bowel resection, leading to malabsorption and dependence on parenteral nutrition (PN). Post-resection, the gut microbiota undergoes significant alterations. While the small bowel microbiome typically comprises Streptococcus, Veillonella, and others, SBS patients often exhibit increased Gram-negative Proteobacteria. Dysbiosis is linked to adverse outcomes like liver disease and impaired growth, but beneficial effects such as energy salvage also occur. Intestinal adaptation, a process of increasing absorptive surface area in the remaining bowel, involves acute, remodeling, and maintenance phases. Preservation of ileum and stimulation with the oral diet are crucial. Biomarkers are needed to predict success, with gut microbiota composition emerging as a promising non-invasive option. The precise mechanisms driving adaptation remain incompletely understood. Conclusions: GLP-1 and GLP-2 analogues show promise in enhancing adaptation and reducing PN dependence. Surgical rehabilitation aims to maximize intestinal absorptive capacity, while transplantation remains a last resort due to high complication risks. Further research is needed to fully elucidate the microbiota’s role and harness its potential in managing SBS. Full article

Various enteropathies, including immune-mediated (IME) and infection-related conditions, can lead to small intestinal mucosal injury and malabsorption. While immune dysregulation plays a central role in diseases like celiac disease and autoimmune enteropathy, other conditions such as small intestinal bacterial overgrowth (SIBO) and tropical sprue (TS) involve infectious or microbial pathogenesis. Common clinical manifestations include weight loss, chronic diarrhea, and nutritional deficiencies. While celiac disease (CD) remains the most prevalent IME in adults, an expanding spectrum of non-celiac enteropathies has been recognized, including autoimmune enteropathy (AIE), common variable immunodeficiency disease (CVID), olmesartan-induced enteropathy, tropical sprue, and small intestinal bacterial overgrowth. These conditions often present with overlapping clinical, serological, and histological features, complicating their differentiation from CD. Accurate diagnosis is critical for the timely initiation of effective treatment to prevent disease progression and associated complications such as severe malabsorption and enteropathy-associated T-cell lymphoma (EATL). The small intestine plays a dual role in nutrient absorption and immune regulation, making it uniquely vulnerable to immune dysregulation. In IMEs, hyperactive immune responses disrupt intestinal homeostasis, leading to mucosal damage and impaired nutrient absorption. Although CD is the prototypical IME, increasing the recognition of non-celiac IMEs, it highlights the need for a more nuanced approach to small bowel biopsy interpretation. This review explores the histopathological and clinical features of common IMEs, with a focus on distinguishing non-celiac disorders that mimic CD. By enhancing the understanding of these conditions, this review aims to improve diagnostic accuracy, facilitate appropriate therapeutic interventions, and mitigate complications associated with delayed or misdiagnosis. A multidisciplinary approach involving gastroenterologists and pathologists is emphasized to optimize outcomes for patients with IMEs. Immune-mediated enteropathies result from an abnormal immune response of the small intestinal mucosa to non-pathogenic molecules, often leading to malabsorption syndrome. The most common symptoms include weight loss, chronic diarrhea, and nutritional deficiencies. While celiac disease (CD) is the most well-known immune-mediated enteropathy (IME) in adults, other related disorders have been identified in recent years. These conditions share many clinical and histopathological features, therefore making differentiations between them challenging. This study aims to review the most common immune-mediated enteropathies, with a focus on non-celiac disorders that should be considered in the differential diagnosis of celiac disease in small bowel biopsies. Full article

Short bowel syndrome (SBS) is a malabsorptive condition resulting from reduced functional small intestinal length. SBS is closely related to intestinal failure (IF), defined as the reduction of functional intestinal mass below that which can sustain life, resulting in parenteral nutrition (PN) support for 60 days or greater within a consecutive 74-day period. IF frequently results from intestinal resection necessitated by such diseases as necrotizing enterocolitis in children and Crohn’s disease in adults. Clinical manifestations of IF may include diarrhea, growth failure, bacterial overgrowth, and vitamin deficiencies. Nutritional rehabilitation is the cornerstone of IF management. Surgical interventions are aimed at preserving intestinal length and restoring continuity. Medical management involves individualized enteral and parenteral nutrition therapy, GLP-2 agonists (e.g., teduglutide) that promote mucosal growth, and drugs for symptom management such as antidiarrheals. Experimental therapies such as the use of devices to induce intestinal growth through distraction enterogenesis are under development for the treatment of IF. An interdisciplinary approach involving surgeons, gastroenterologists, dietitians, nurses, and social workers is crucial in the management of these complex patients. Ultimately, a combination of nutritional, medical, and surgical management may be necessary to improve clinical outcomes in patients with IF. Full article

Background: Malabsorption syndrome is characterized by chronic diarrhea, abdominal distension, and malnutrition, thereby complicating its diagnosis and treatment. Oligomeric enteral formulas, designed to facilitate absorption in patients with compromised bowel function, have shown clinical efficacy, though their implementation lacks standardization due to the lack of uniform protocols. Objective: To establish a multidisciplinary consensus on the use of oligomeric formulas in patients with malabsorption using a Delphi methodology. Material and Method: A Delphi study was conducted with 156 specialists in endocrinology, gastroenterology, oncology, and internal medicine. Two rounds of structured surveys assessed clinical practices, associated symptoms, and the use of oligomeric enteral formulas. Data were analyzed using descriptive statistics and non-parametric tests, defining consensus with a median of ≥7 and an interquartile range of ≤3. Likewise, a Median (MED) score of ≤3 was considered as a consensus to reject the statement, while an Interquartile range (IQR) of ≥4 or a MED of 4–6 was considered as no agreement. These statements were reviewed and included in the second round. Results: Screening for malnutrition is widely supported (79%), but only 38% of participants reported having specific management protocols. Symptoms such as abdominal distension, abdominal pain, and diarrhea were identified as key predictors of intolerance to polymeric formulas, establishing oligomeric enteral formulas as first choice in these cases. In addition, the effectiveness of an approach that progresses from oligomeric to polymeric enteral formulas once symptoms have stabilized was highlighted. The need for standardized protocols was recognized as a priority to guide nutritional assessment and treatment in patients with malabsorption. Conclusions: This consensus reinforces the importance of implementing specific clinical protocols for the nutritional management of malabsorption, including the initial use of oligomeric enteral formulas in patients with severe symptoms and their controlled transition to polymeric enteral formulas. Full article

Avian reovirus (ARV) is one of the main causes of viral arthritis, tenosynovitis, malabsorption syndrome (MAS), runting-stunting syndrome, and immunodepression. In recent years, due to the emergence of new ARV strains, outbreaks of the disease have brought significant economic losses to chicken flocks. To determine the prevalence of ARV in China from 2010 to 2024, a total of 409 tissue samples from different breeding farms were collected from chickens presenting clinical signs of lameness and swollen joints in various flocks located in 18 provinces. As performed on these tissue samples, the ARV-specific reverse transcription-polymerase chain reaction (RT-PCR) assay indicated 111 ARV-positive samples with a positive rate of 27.14%. After viral isolation from the necropsied chicken samples, 69 ARV strains were isolated, and specific sigma C (σC) genes were amplified and sequenced. The sequence analysis of σC genes showed that these 69 isolates were grouped into six clusters, including 14 ARV isolates from cluster I (20.29%), 12 ARV isolates from cluster II (17.39%), 3 ARV isolates from cluster III (4.35%), 8 ARV isolates from cluster IV (11.59%), 3 ARV isolates from cluster V (4.35%), and 29 ARV isolates from cluster VI (42.03%). Except for cluster V, each of the other five clusters could be divided into two subclusters. Homology analysis showed that ARV isolates in clusters II–VI had only 50.3 to 60.8% homology with the commercial S1133 vaccine strain which is derived from cluster I. The ARVs in subcluster Ia had high homology with the S1133 vaccine strain (93.5–98.0%), while the ARVs in subcluster Ib had a low homology with the S1133 strain (73.4–76.4%). Further, the cluster VI viruses, the main epidemic genotype in China, had only 50.3–55.7% homology with the S1133 strain. The results of the pathogenicity test showed that the representative strains of the six different clusters all caused swelling of the footpads in SPF chickens, and the incidence rate was not significantly different. The present study will be helpful in the understanding the prevalence of ARV strains in China and revealed the genetic differences between the ARV isolates and the commercial vaccine strain. Full article

Background and Clinical significance: Plummer–Vinson (PV) syndrome is a rare medical entity diagnosed when iron-deficiency anemia, dysphagia, and esophageal webs occur in the same patient. PV syndrome has been associated with different autoimmune diseases, such as celiac disease (CD). CD is a chronic multisystemic disorder affecting the small intestine, but it is recognized as having a plethora of clinical manifestations secondary to the malabsorption syndrome that accompanies the majority of cases. However, similar to PV syndrome, a high percentage of CD patients are asymptomatic, and those who are symptomatic may present with a wide variety of gastrointestinal and extraintestinal symptoms, including iron-deficiency anemia, making the diagnosis challenging. Case presentation: We present the case of a 43-year-old Caucasian female patient with a 7-year history of iron-deficiency anemia and increased bowel movements (3–4 stools/day). Upper endoscopy demonstrated a narrowing at the proximal cervical esophagus from a tight esophageal stricture caused by a smooth mucosal diaphragm. A 36F Savary–Gilliard dilator was used to manage the stenosis. The distal esophagus and stomach were normal, but scalloping of the duodenal folds was noted, and CD was confirmed by villous atrophy and positive tissue transglutaminase antibodies. Dysphagia was immediately resolved, and a glute-free diet was implemented. Conclusions: The relationship between PV syndrome and CD is still a matter of debate. Some might argue that PV syndrome is a complication of an undiagnosed CD. In cases of PV syndrome, a CD diagnosis should be considered even in the absence of typical symptoms of malabsorption. Full article

One of the primary challenges encountered in managing captive callitrichids is a group of gastrointestinal disorders that are collectively known as Marmoset Wasting Syndrome (MWS). Unfortunately, MWS is still not well understood. It is suggested that MWS has a multifactorial etiology; stress, infection, malnutrition, malabsorption, and enteritis or colitis may be associated with MWS. Usually, animals demonstrate more than one of the following clinical signs: progressive weight loss, alopecia, chronic diarrhea, muscle atrophy, hypoproteinemia, and anemia. Recent advances in diagnostics, mostly noninvasive fecal and urine tests, yielded promising results. Good treatment results have been achieved with the administration of glucocorticoids and tranexamic acid, although no cure has been found yet. Probiotics and gel diets also demonstrated to be potentially useful. However, once animals are affected by MWS, treatments eventually become ineffective, and animals will inevitably require euthanasia to prevent further suffering. Preventative measures should be aimed at reducing stress and optimizing housing, husbandry, and diets. More research is warranted to elucidate the pathogenesis of MWS in captive callitrichids and to refine diagnostic and treatment methods. Full article

Background/Objectives: Thalassemia, a hereditary blood disorder, leads to reduced hemoglobin levels, impairing oxygen transport and negatively impacting patient health. Recent research suggests a possible association between thalassemia and gastrointestinal (GI) symptoms, such as abdominal pain, diarrhea, and GI bleeding, potentially due to immune compromise and iron overload. This systematic review aims to explore the prevalence and underlying factors of GI pathologies in thalassemia patients, excluding treatment-related effects and iron overload. Methods: A comprehensive search following the PRISMA guidelines was conducted to identify the prevalence and causes of GI disorders in thalassemia patients. Studies assessing non-treatment-related GI symptoms and their links to thalassemia were analyzed. After screening 1902 studies, 13 were included to investigate gastrointestinal manifestations in thalassemia patients. Results: Evidence indicates potential associations between thalassemia and GI disorders, including malabsorption, inflammatory bowel disease, Heliobacter pylori (H. pylori) infection, and celiac disease. Findings highlight immune compromise and iron dysregulation as possible contributing factors. Conclusions: This review highlights the importance of further research into the GI manifestations of thalassemia to enable early detection and improve patient health outcomes and quality of life. Addressing this gap may provide insights into better clinical management strategies for thalassemia patients. Full article

The growing popularity of reptiles has contributed to their reproduction in captivity. When subjected to stressful environments, such as the presence of a higher number of humans and animals, reptiles may become more susceptible to parasites. Endoparasites in captive animals may cause several clinical signs ranging from mild to severe: lethargy, anorexia, diarrhea, cloacal/penile prolapse, infertility, intestinal malabsorption syndrome, and weight loss, among others. This study aimed to assess the presence of gastrointestinal parasites in fecal samples of reptiles from a Portuguese zoo through two techniques: a fecal flotation test (using a saturated sodium chloride solution) and Mini-FLOTAC. Ninety-nine samples belonging to 22 different animal species were collected and analyzed. Parasites were identified in 53.5% of the samples. Chelonians had a higher frequency (100%), followed by lizards (56.8%) and snakes (47.4%). The eggs/oocysts found were oxyurids (36.4%), strongylids/Kalicephalus sp. (8.1%), Eimeria sp. (5.1%), Hymenolepis spp. (5.1%), ascarids (4.0%), and Isospora sp. (2.0%). Both techniques presented the same results for each sample. The high prevalence of oxyurids, as well as of other parasites, can be explained by possible environmental contamination as these reptiles are kept in captivity. This study indicated the importance of assessing parasitic infections in reptiles in zoos, where routine coprological examinations should always be considered, as well as adequate prophylaxis. Full article

Celiac disease is a chronic inflammatory condition of the small bowel caused, in genetically predisposed subjects, by the ingestion of gluten and characterised by a broad clinical polymorphism, ranging from patients with an asymptomatic or paucisymptomatic disease. The clinical presentation ranges from the presence of minor, apparently unrelated symptoms or first-degree kinship with known patients to severe intestinal malabsorption and all its clinical consequences and complications. Even if a large body of research improved our understanding of the molecular basis of celiac disease pathophysiology, enhancing the identification of new targets for future new treatments, an accurate gluten-free diet remains the mainstay of the therapy for this condition, restoring a normal absorptive mucosa. It is very rare, nowadays, to deal with patients with severe malabsorption syndrome secondary to celiac disease. Consequently, physicians are currently less prone to search for nutritional deficiencies in celiac disease. To pinpoint the possibility of both a disease-related and a diet-induced vitamin deficiency, we reviewed the literature on vitamin deficiency in this condition and reported the impact both in untreated and treated patients with celiac disease. A gluten-free diet must be tailored for each patient to meet nutritional targets: the pre-existence or diet-induced intake inadequacies should be carefully considered for an effective management of celiac disease. Full article

The gut microbiome is essential for children’s normal growth and development, with its formation aligning closely with key stages of growth. Factors like birth method, feeding practices, and antibiotic exposure significantly shape the composition and functionality of the infant gut microbiome. Small intestinal bacterial overgrowth (SIBO) involves an abnormal increase in bacteria within the small intestine. This overgrowth can interfere with digestion, impair nutrient absorption, and lead to both local and systemic inflammation, potentially contributing to malnutrition. In this review, we provide a comprehensive overview of the current understanding of the relationship between SIBO and malnutrition, with a particular focus on the pediatric population. SIBO seems to play an important role in nutrient malabsorption through the gut microbiome imbalance, local inflammation, and disruption of the mucosal intestinal barrier. Additionally, SIBO is more prevalent in digestive disorders linked to malabsorption and malnutrition. Different therapeutic strategies for addressing malnutrition-related SIBO have been proposed. While antibiotics are the primary treatment for SIBO, their effectiveness in promoting weight gain among malnourished children remains uncertain. Hence, future research directed at the impact of microbiome imbalance on nutrient intake and absorption could bring to light new strategies for the effective prevention and treatment of malnutrition. Full article

Background: The long-term effects on neonates born of COVID-19-positive pregnancies are still unclear. Congenital gastrointestinal malformations (CGIMs) often require urgent surgical intervention and antibiotic coverage. We aim to compare the health status at one-year post-surgical follow-up of cases of CGIM born of COVID-19-positive pregnancies to those of non-COVID-19 pregnancies. Methods: We conducted a comparative, observational study of 41 patients who underwent surgery at our hospital for congenital gastrointestinal malformations in 2022. They were initially treated with antibiotics and parenteral nutrition, which was later replaced with enteral nutrition gradually after the surgery. We then analyzed the data related to their growth and development during their 12-month follow-up visit at our outpatient clinic. We classified the children born of COVID-19-positive mothers as Group 1 (n = 14) and those born of mothers without COVID-19 symptoms or with unconfirmed status as Group 2 (n = 33). Results: Forty-one patients showed up for a one-year follow-up (between 11 and 13 months of life). Hence, the final Group 1 comprised 12 and Group 2 comprised 29 children. The patients were categorized based on their anatomical location. Of the cohort, 56.09% were preemies, and 43.91% were full-term newborns. We used seven parameters to evaluate both groups based on growth and developmental milestones: verbal skills, cognitive development, weight gain, height achieved, fine motor movements, gross motor movements, and social/emotional behavior. Group 1 children showed a significant decrease in height and weight compared to Group 2 children. In Group 1, 83.33% of patients were prescribed antibiotics, while only 10.34% in Group 2 were in the same situation. There were no cases of malabsorption syndrome in Group 2, but 16.66% of patients in Group 1 had it, with patients being operated on for duodenal malformations. None of the infants had necrotizing enterocolitis, post-surgical complications, or sepsis. All the children received antibiotics to prevent infection before and after surgery. No mortality was noted. Conclusions: In our one-year follow-up study, it was seen that even after surgical correction of congenital gastrointestinal malformations, children born of COVID-19-positive pregnancies can suffer serious growth and developmental delays, and gastrointestinal health issues might be more common. Since the long-term effects of COVID-19-positive pregnancies are not yet clear, larger cohort-based studies are required in this domain. Antibiotics destroy gut microbiota, especially in cases of gastrointestinal malformations and surgical resections. Growth and developmental milestones can not only be affected by CGIMs but also be further delayed by COVID-19 infections. Full article