Fat-soluble Vitamin Deficiency Research Articles

Abetalipoproteinemia with angioid streaks, choroidal neovascularization, atrophy, and extracellular deposits revealed by multimodal retinal imaging

ABSTRACT Purpose Abetalipoproteinemia (ABL, MIM 200,100) is a rare autosomal recessive disorder caused by nonfunctional microsomal triglyceride transfer protein leading to absence of apolipoprotein B-containing lipoproteins in plasma and a retinitis pigmentosa-like fundus. The MTTP gene is expressed in retinal pigment epithelium (RPE) and ganglion cells of the human retina. Understanding ABL pathophysiology would benefit from new cellular-level clinical imaging of affected retinas. Methods We report multimodal retinal imaging in two patients with ABL. Case 1 (67-year-old woman) exhibited a bilateral decline of vision due to choroidal neovascularization (CNV) associated with angioid streaks and calcified Bruch membrane. Optical coherence tomography were consistent with basal laminar deposits and subretinal drusenoid deposits (SDD). Results Case 2 (46-year-old woman) exhibited unusual hyperpigmentation at the right fovea with count-fingers vision and a relatively unremarkable left fundus with 20/30 vision. The left eye exhibited the presence of nodular drusen and SDD and the absence of macular xanthophyll pigments. Conclusion We propose that mutated MTTP within the retina may contribute to ABL retinopathy in addition to systemic deficiencies of fat-soluble vitamins. This concept is supported by a new mouse model with RPE-specific MTTP deficiency and a retinal degeneration phenotype. The observed range of human pathology, including angioid streaks, underscores the need for continued monitoring in adulthood, especially for CNV, a treatable condition.

Dysregulated serum concentrations of fat-soluble vitamins in dogs with chronic enteropathy.

In inflammatory bowel disease (IBD) of humans, nutrient malabsorption can result in fat-soluble vitamin deficiency, especially of vitamin D. In veterinary species, decreased concentrations of vitamin D are relatively common in dogs with chronic enteropathy (CE), but data on the status of other fat-soluble vitamins (FSVs) is lacking. Determine the serum concentrations of retinol, vitamin D, and α-tocopherol in dogs with CE compared with healthy dogs and compare clinical, clinicopathologic variables between CE and healthy dogs to detect associations with decreased FSVs concentrations. Eighteen client-owned dogs with CE and 33 healthy dogs. Serum 25-hydroxyvitamin D (25[OH]D), serum retinol and α-tocopherol concentrations were compared between groups. Correlations and multiple regression modeling were used to examine the relationship between serum 25(OH)D, retinol, and α-tocopherol concentrations and clinical and clinicopathological variables. Dogs with low serum albumin concentrations were more likely to have lower 25(OH)D concentrations than dogs with normal serum albumin concentration. Dogs with CE had higher serum concentrations of retinol, and variable α-tocopherol concentrations. The cause of these dysregulated vitamin concentrations is unclear and requires further study. Dogs with severe forms of CE should be monitored for decreased concentrations of 25(OH)D. Additional studies are needed to evaluate the clinical relevance and the possible benefit of vitamin D supplementation in these patients.

IBAT inhibitors in pediatric cholestatic liver diseases: Transformation on the horizon?

Historically, the therapeutic options available to hepatologists managing cholestasis have been limited. Apart from bile acid--binding resins and the choleretic ursodeoxycholic acid, the medical management of cholestasis in children has been predominately focused on managing the complications of cholestasis, namely pruritus, malnutrition, fat-soluble vitamin deficiencies, and portal hypertension. As such, invasive surgical procedures such as biliary diversion and liver transplantation may become the only options for progressive and unremitting cases of cholestasis. Particularly in the pediatric population, where debilitating pruritus is a common indication for a liver transplant, effective anti-cholestatic medications have the potential to prolong native liver survival without the need for biliary diversion. Ileal bile acid transporter (IBAT) inhibitors are a relatively new class of drugs which that target the ileal re-uptake of bile acids, thus interrupting the enterohepatic circulation and reducing the total bile acid pool size and exposure of the liver. Oral, minimally absorbed IBAT inhibitors have been demonstrated to reduce serum bile acid levels and pruritus with a minimal side effect profile in clinical trials in Alagille Ssyndrome and progressive familial intrahepatic cholestasis, leading to FDA and EMA approval. The indications for IBAT inhibitors will likely expand in the coming years as clinical trials in other adult and pediatric cholestatic conditions are ongoing. This review will summarize the published clinical and pre-clinical data on IBAT inhibitors and offer providers guidance on their practical use.

Fat-Soluble Vitamins A, D, E, and K: Review of the Literature and Points of Interest for the Clinician.

Fat-soluble vitamins, including vitamins A, D, E, and K, are energy-free molecules that are essential to the body's functioning and life. Their intake is almost exclusively exogenous, i.e., dietary. As a result, fat-soluble vitamin deficiencies are rarer in industrialized countries than in countries with limited resources. Certain groups of people are particularly affected, such as newborns or growing children, pregnant or breastfeeding women, and elderly or isolated individuals. Deficiencies in vitamins A, D, E, and K are also relatively frequent in subjects with digestive tract disorders, liver diseases, chronic pathologies, or in intensive care patients. Deficiencies or excesses of fat-soluble vitamins are responsible for a variety of more or less specific clinical pictures. Certain syndromes are typical of fat-soluble vitamin deficiency, such as the combination of ophthalmological and immunity impairments in the case of vitamin A deficiency or hemorrhagic syndrome and osteopenia in the case of vitamin E deficiency. This is also the case for osteomalacia, muscular weakness, even falls, and rickets in the case of vitamin D deficiency. Diagnosis of a deficiency in one of the fat-soluble vitamins relies on blood tests, which are not always essential for routine use. In this context, a therapeutic test may be proposed. Treatment of deficiencies requires vitamin supplementation, a well-balanced diet, and treatment of the cause.

Proximal Jejuno-Ileal Bypass as Revision of Roux-en-Y Gastric Bypass.

Bariatric surgery is established as a possibility for the treatment of obesity, allowing weight reduction and remission of obesity comorbidities. Reported suboptimal clinical response rates are as high as 30-60% (insufficient weight loss or gain, defined as BMI greater than 35kg/m2 or excess weight loss less than 50%). Proximal jejuno-ileal bypass (PJIBP) is a promising option when re-intervention is required. To describe the standardization of a proprietary technique of modified PJIBP as a management procedure in patients with post-gastric bypass recurrent weight gain or insufficient post-intervention weight loss. This study evaluated a case series of 10 Latin American patients requiring post-bariatric re-intervention, between February 2018 and 2023, in a single-metabolic surgery center in Cali-Colombia. Median age was 45years (26-70 RIC), 60% female, and 40% male. Mean BMI at conversion was 36.7kg/m2 (6.4 SD). Median follow-up was 22months (RIC 16-30). Mean percentage of excess weight lost was 78% (22.4 SD). One hundred percent achieved glycemia control, only one patient persisted with dyslipidemia, and no patient presented hypoalbuminemia. At the end of follow-up, 100% received vitamin supplementation. PJIBP could be an effective procedure, associated with positive results in relation to weight loss and resolution of obesity comorbidities. Deficiencies of fat-soluble vitamins and protein malnutrition represent the main concern in the long term, so multidisciplinary management and continuous follow-up are required.

Chylomicron retention disease caused by SAR1B gene variations in 2 cases and literatures review

Objective: To summarize the genotype and clinical characteristics of chylomicron retention disease (CMRD) caused by secretion associated Ras related GTPase 1B (SAR1B) gene variations. Methods: Clinical data and genetic testing results of 2 children with CMRD treated at Children's Hospital of Fudan University and Jiangxi Provincial Children's Hospital from May 2022 to July 2023 were summarized. To provide an overview of the clinical and genetic characteristics of CMRD caused by SAR1B gene variations, all of the literature was searched and reviewed from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to January 2024) with "chylomicron retention disease" "Anderson disease" or "Anderson syndrome" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of CMRD caused by SAR1B gene variations. Results: One 11-year-old boy and one 4-month-old girl with CMRD. Both patients had lipid malabsorption, failure to thrive, decreased cholesterol, elevated transaminase and creatine kinase, and vitamin E deficiency, with homozygous variations (c.224A>G) and compound heterozygous variations (c.224A>G and c.554G>T) in SAR1B gene, respectively. Case 1 was followed up for over a month, and he still occasionally experienced lower limb muscle pain. Case 2 was followed up for more than a year, and her had caught up to normal levels. Both patients had no other significant discomfort. Literature search retrieved 0 Chinese literature and 22 English literatures. In addition to the 2 cases reported in this study, a total of 51 patients were identified as CMRD caused by SAR1B gene variations. Twenty-one types of SAR1B variants 10 missense, 4 nonsense, 3 frameshift, 1 in-frame deletion, 1 splice, 1 gross deletion, and 1 gross insertion-deletion were found among the 51 CMRD cases. Among all the patients, 49 cases had lipid malabsorption (43 cases had diarrhea or fatty diarrhea, 17 cases had vomiting, and 12 cases had abdominal distension), 45 cases had lipid soluble Vitamin deficiency (43 cases had Vitamin E deficiency, 10 cases had Vitamin A deficiency, 9 case had Vitamin D deficiency, and 5 cases had Vitamin K deficiency), 35 cases had failure to thrive, 32 cases had liver involvement (32 cases had elevated transaminases, 5 cases had fatty liver, and 3 cases had hepatomegaly), 29 cases had white small intestinal mucosa under endoscopy, and 17 cases had elevated creatine kinase, 14 cases had neuropathy, 5 cases had ocular lesions, 2 cases had acanthocytosis, 1 case had decreased cardiac ejection fraction, and 1 case was symptom-free. Conclusions: Early infancy failure to thrive and lipid malabsorption are common issues for CMRD patients. The Laboratory tests are characterized by hypocholesterolemia with or without fat-soluble vitamin deficiency, elevated liver enzymes and (or) creatine kinase. Currently, missense variations are frequent among the primarily homozygous SAR1B genotypes that have been described.

The problem of excessive hair loss as a signal for the diagnosis of coeliac disease – A family case

Celiac disease is an autoimmune disorder in which the small intestine is damaged after ingesting gluten. Baldness often co-occurs with various systemic diseases including autoimmune diseases. In addition, alopecia can result from nutritional deficiencies. In the case of celiac disease, we are mainly talking about deficiencies of iron, fat-soluble vitamins (A,D,E,K), vitamin B12 and folic acid. Telogenetic alopecia (TE) is diffuse and reversible alopecia, and the causes of this condition can be nutritional deficiencies and impaired absorption. Celiac disease has been linked to alopecia areata (AA). We describe the case of a mother and daughter with a history of hair loss, which represented the only incipient (mother’s case) and subsequent (daughter’s case) extraintestinal manifestation of celiac disease.

Maralixibat (Livmarli)

CADTH recommends that Livmarli should be reimbursed by public drug plans for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) if certain conditions are met. Livmarli should only be covered to treat patients aged 12 months and older with a diagnosis of ALGS and who have impaired bile flow demonstrated by at least 1 of the following: elevated serum bile acids (sBAs), conjugated bilirubin, or gamma-glutamyl transferase; fat-soluble vitamin deficiency; and/or intractable itch. Patients must experience moderate to severe itch symptoms and must be currently or have been previously treated with systemic medication for itch. Livmarli should only be reimbursed if it is prescribed under the care of a specialist with experience in managing ALGS, if patients experience an improvement in their itching after using Livmarli for 6 months, and if the cost of Livmarli is reduced. Livmarli should be stopped if the patient receives a liver transplant or biliary diversion surgery.

Correction of plasma fat-soluble vitamin levels by blood lipids in elderly patients with coronary heart disease

This study aims to investigate the correlation between plasma fat-soluble vitamin levels and blood lipid in elderly patients with coronary heart disease (CHD). A total of 120 participants were enrolled, including 60 CHD patients and 60 controls without CHD. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to quantify plasma levels of vitamins A, D3, E, and K. Data analysis was conducted using the statistical analysis system module of MetaboAnalyst 5.0. The CHD group showed significantly higher levels of plasma total cholesterol (TC), triglycerides (TG), and low-density lipoprotein cholesterol (LDL-C) but not high-density lipoprotein cholesterol (HDL-C) compared to controls. The CHD group exhibited significantly higher plasma levels of VA and VE, positively correlating with TC, TG, and LDL-C. After adjusted by TG levels, the CHD group had significantly lower plasma levels of VA and VE, negatively correlating with TC, TG, and LDL-C. The CHD group also had significantly lower concentrations of VD3, independent of TG modification, compared to controls. VD3 negatively correlated with TC, TG, and LDL-C. Elderly individuals with CHD display abnormal blood lipid metabolism, and fat-soluble vitamins adjusted by TG levels can more accurately and timely response to implicit fat-soluble vitamins deficiency in CHD patients.

Vitamin Nutritional Status in Patients with Pancreatic Cancer: A Narrative Review.

Due to the high mortality rate in Western countries, pancreatic cancer is considered one of the big killers, leaving patients and their families with little hope upon diagnosis. Although surgical and drug therapies are critical for cancer patients to improve life expectancy and alleviation of suffering, nutrition plays a key role in improving cancer treatment outcomes. This narrative review, conducted as part of the activities of the Italian Society of Human Nutrition (SINU) working group in oncology, focuses on the prevalence of vitamin malnutrition among pancreatic cancer patients. The results of the literature search show that pancreatic cancer patients are at a heightened risk of water-soluble vitamin deficiencies, particularly of vitamins B1, B3, and B6. Additionally, they also face an increased risk of deficiency of fat-soluble vitamins. Among these vitamins, the potential role of vitamin D in pancreatic cancer has garnered the most attention, with its plasma levels being identified as a significant factor in patient survival. Investigating vitamin nutritional status could provide valuable insights for incorporating nutritional approaches into the prevention and treatment of pancreatic cancer, thereby reducing the exacerbation of symptoms associated with the diagnosis.

Association of vitamin deficiency with the progression of anaemia

Vitamins are micronutrients that play a vital role in the body’s proper functioning and development. Furthermore, they are an essential requirement of the body for producing red blood cells (RBCs) and their growth. A particular quantity of micronutrients is mandatory for the regulation of body metabolism. Deficiency in vitamins leads to different types of anaemia in the body. Furthermore, deficiencies in both fat-soluble and water-soluble vitamins are linked to the destruction of RBCs. This review article was aimed at finding the correlation between the deficiency of vitamins and anaemia, with a major focus on the deficiency of vitamins B-9 and B-12 and their association with anaemia. In our deep observation of the literature, we found that the deficiency of vitamins causes iron malabsorption, haemoglobin (Hb) synthesis malfunctioning, impaired DNA synthesis, and a disturbed methylation cycle, while a disrupted erythropoiesis process and a reduction in the RBC’s production leads to anaemia. Interference in vitamin B-9 and vitamin B-12-associated chemical reactions causes deficiency and results in diminished DNA synthesis. Malabsorption of vitamins B-9 and B-12 is a major concern for anaemia, but other water and fat-soluble vitamins disrupt iron metabolism and interrupt the erythropoiesis process, which ultimately causes anaemia. There should be a balanced number of vitamins in the diet; otherwise, this will inhibit the production of RBCs. As Vitamin B-9 and B-12 deficiencies have been associated with a reduction in DNA synthesis, further study is required to discover how additional fat-soluble and water-soluble vitamins affect DNA synthesis.

Pancreatitis in cystic fibrosis: Presentation, medical and surgical management, and the impact of modulator therapies.

Patients with Cystic Fibrosis (CF) are at increased risk of acute (AP) and chronic (CP) pancreatitis, and their complications. The extent of remaining healthy pancreatic parenchyma determines the risk of developing future episodes of pancreatitis, as well as pancreatic exocrine or endocrine insufficiency. Pancreatitis may be the presenting symptom of CF, and genetic testing is especially important in pediatrics. AP and recurrent AP are managed with intravenous fluid hydration and pain control, in addition to early refeeding and treatment of complications. With the use of modulator therapy in CF, pancreatic function may be restored to some extent. CP related pain is managed with analgesics and neuromodulators, with surgery if indicated in specific situations including TPIAT as a possible type of surgical intervention. Long-term sequelae of CP in patients with CF include exocrine pancreatic insufficiency treated with pancreatic enzyme replacement therapy, fat-soluble vitamin deficiencies and associated metabolic complications such as bone disease/osteoporosis, pancreatogenic diabetes, and less commonly, pancreatic cancer. We review the presentation and etiologies of pancreatitis in CF patients as well as the management of AP and CP primarily in children.

Fat digestion and absorption: Normal physiology and pathophysiology of malabsorption, including diagnostic testing.

Fat digestion and absorption play crucial roles in maintaining energy homeostasis and supporting essential physiological functions. The initial stage of fat digestion occurs in the stomach, where gastric lipase begins the hydrolysis of triglycerides. However, most fat digestion takes place in the small intestine via pancreatic enzymes and bile salts. Emulsification of fat by bile acids facilitates enzymatic action, breaking down triglycerides into free fatty acids and monoglycerides, which are then able to be absorbed by enterocytes. Fat malabsorption can result from various underlying conditions, such as exocrine pancreatic insufficiency, bile acid disorders, or intestinal diseases. The clinical manifestations of fat malabsorption include steatorrhea, malnutrition, and deficiencies of fat-soluble vitamins. Diagnostic approaches involve assessing fecal fat levels, imaging studies, and various functional tests to identify the specific etiology. This review article will describe the normal physiologic process of fat digestion and absorption and discuss various pathophysiology that can lead to fat malabsorption within the gastrointestinal tract as well as their respective diagnostic testing modalities. Effective digestion of fat is essential for overall health, because it allows for absorption of many essential nutrients, plays an integral role in cellular and structural function, and supplies energy to the body. When this is dysfunctional, disorders of malabsorption can occur. This article will give a brief overview of the physiologic process of fat digestion and absorption in healthy individuals as well as review important pathophysiology that can lead to fat malabsorption within the gastrointestinal tract and current diagnostic testing modalities.

Supply of vitamins (A, E, D, C, B6, B12) and mineral substances (ZN, FE, MG, CA, P) for children with recurrent respiratory infections and deficiency correction of their deficiency as a possibility to prevent frequent respiratory infections

Introduction. Recurrent respiratory infections in children are a pressing problem in pediatrics. To maintain and function the immune system in children, their provision of vitamins and minerals is important.Purpose. To assess the provision of children with recurrent respiratory infections with vitamins (A, E, D, C, B6, B12, folic acid) and minerals (Zn, Fe, Mg, Ca, P) and to correct their deficiency with a vitamin-mineral complex.Materials and methods. The study was conducted on 65 children aged 3 to 8 years in 2 groups of children: group 1, children with RID, n = 50; group 2 – control, n = 15). An outpatient examination, a parent survey and a blood test for vitamins (A, E, D, C, B6, B12, folic acid) and minerals (Zn, Fe, Mg, total Ca, Ca++, P) were carried out. 30 children with RID were prescribed the vitamin and mineral complex, 1 tablet 2 times a day, with an assessment of vitamin and mineral sufficiency and the frequency of respiratory infections after the end of the dose.Results. In all examined children, both in the main and control groups, the most common were deficiencies of fat-soluble vitamins D (69%), A (40%), E (35%) and the minerals Zn (70%) and Fe (44%). In children with RID, deficiency of vitamins D, A and Zn was more common than in the control group (p < 0.05), in 96% of cases it was combined, more often in the form of a combined deficiency of fat-soluble vitamins D, A, E and minerals Zn, Fe (66% of cases). Taking vitamin-mineral complex in the 2nd prophylactic dose for 1 month contributed to an improvement in vitamin and mineral sufficiency and a decrease in respiratory morbidity in the next 2 months after stopping the drug.Conclusion. Vitamin-mineral complex can be successfully used to maintain vitamin and mineral levels and reduce respiratory morbidity in children with recurrent respiratory infections.

A104 ATYPICAL PRESENTATION OF HSD3B7 DEFICIENCY

Abstract Background Bile acid synthesis disorders are the result of deficient activity of one of 17 enzymes required for conversion of cholesterol into bile acids. One such bile acid synthesis disorder is 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, an autosomal recessive inherited disorder caused by a defect in 3β-hydroxy-Δ5-C27-steroid dehydrogenase (C27 3β-HSD) enzyme. Ultimately, this bile acid synthesis disorder is due to a HSD3B7 gene mutation. With only 53 cases reported between 1993 and 2015, HSD3B7 deficiency is rare. Additionally, the existing literature is primarily in the form of case reports, with the majority of patients with HSD3B7 deficiency presenting in the neonatal period, often with cholestatic jaundice. Aims To showcase an atypical presentation of HSD3B7 deficiency, in an 11 year old male with recurrent epistaxis and a coagulopathy of vitamin K deficiency. Additionally, to complete a review of the literature available on HSD3B7 deficiency. Methods Case report, chart review, and literature review. Results 11 year old male who initially presented to Pediatric Hematology with prolonged PTT and INR in the context of recurrent epistaxis and easy bruising. Upon further work up, the patient was found to have low levels of vitamin K dependent factors, as well as low vitamin levels of A, D, and E. Additionally, the patient had elevation of AST, ALT, GGT, ALP, and total bilirubin. Normalization of the INR and PTT were achieved with vitamin K supplementation. Genetic testing was sent to work up the abnormal liver enzymes and revealed HSD3B7 deficiency. Fast atom bombardment ionization was subsequently completed and confirmed the diagnosis. Conclusions There is limited clinical data available regarding HSD3B7 deficiency. The classic presentation of this bile acid synthesis disorder is in a neonate with cholestatic jaundice, hepatomegaly, fat-soluble vitamin deficiencies, and lipid malabsorption. Therefore, the initial presentation of an 11 year old with recurrent epistaxis and prolonged INR and PTT is thus an atypical presentation of HSD3B7 deficiency. This case report demonstrates that there is diversity in the age of presentation and accompanying signs and symptoms in HSD3B7 deficiency. Funding Agencies None

A49 AN UNEXPECTED CASE OF SEVERE PROTEIN-LOSING ENTEROPATHY IN A TODDLER

Abstract Background Protein-losing enteropathies (PLE) are characterized by excess loss of serum proteins into the gastrointestinal tract, resulting in hypoproteinemia, peripheral edema, and related respiratory and cardiac sequelae. PLE should be suspected in patients with hypoproteinemia not explained by protein malnutrition, impaired hepatic protein synthesis, or renal losses, and can occur as a consequence of erosive or non-erosive gastrointestinal diseases, and conditions that alter lymphatic flow. Aims To present a case of intestinal malrotation with chronic volvulus presenting as PLE. Methods In this report, we describe a pediatric patient presenting with PLE ultimately found to have intestinal malrotation with chronic volvulus. Results A healthy 1-year-old male presented with acute non-bloody diarrhea and peripheral edema on a background of recurrent colicky abdominal pain and non-bilious emesis. He had significant electrolyte derangements at presentation including hypokalemia, hyponatremia, hypomagnesemia, and metabolic acidosis, with additional laboratory findings of hypoalbuminemia (11g/L), hypogammaglobulinemia (IgA 0.11g/L, IgG 0.77g/L, IgM 0.28g/L), lymphopenia (0.4x10E9/L), and fat-soluble vitamin deficiency (Vitamin A 0.5umol/L, 25-Hydroxyvitamin D 18.4nmol/L, Vitamin E 6umol/L, INR 1.7). In addition to abdominal imaging, he underwent endoscopic evaluation which did not identify an underlying etiology. As his presentation was consistent with PLE, a high-protein, low-fat diet was initiated. Despite dietary adherence for 16 weeks, the PLE features persisted with ongoing severe hypoalbuminemia (20g/L). Given a suspicion of intestinal lymphangiectasia, a capsule endoscopy was arranged. In the interim, the patient had recurrence of abdominal pain and emesis prompting a repeat abdominal ultrasound which demonstrated swirling of the mesenteric vessels in the midline. An upper gastrointestinal series identified a short mesenteric root with the duodenojejunal junction and cecum in proximity. Urgent laparotomy confirmed a 720-degree volvulus of the small bowel around the mesenteric root, with an abnormally positioned duodenojejunal flexure and cecum. This was presumed to be chronic given the absence of acute vascular compromise. The patient underwent a Ladd procedure. He had complete resolution of symptoms and PLE features on a liberalized diet. Conclusions This report identifies a case of intestinal malrotation with chronic volvulus presenting as PLE, highlighting an atypical presentation of intestinal malrotation outside the neonatal period. Awareness of these atypical presentations is important to facilitate prompt diagnosis and treatment, thereby reducing the rate of complications. Funding Agencies None

Evaluation of the efficiency of nanomicellar formulation of fat-soluble vitamins in patients with cystic fibrosis: the study protocol for a randomized controlled trial

BackgroundCystic fibrosis is an inherited disease, which is caused by the CFTR protein defects due to mutations in the CFTR gene. Along with CFTR dysfunction, exocrine pancreatic insufficiency plays a key role in persistent fat malabsorption in CF patients; therefore, deficiency of fat-soluble vitamins (A, D, E, and K) is still a therapeutic challenge. Even with efficient pancreatic enzyme medication and CF-specific vitamins, many patients with CF have fat-soluble vitamins deficiency. The present study aims to evaluate the efficiency of nanomicelle formulation of fat-soluble vitamins in children with CF in order to achieve the appropriate serum levels of these vitamins.MethodsThis prospective, single-blind control trial will be conducted at the Akbar Children’s Hospital in Mashhad, Iran. Patients with CF will be enrolled based on the eligibility criteria. The control group will receive the standard formulation of fat-soluble vitamins similar to the routine CF treatment, and for the intervention group, the nanomicelle formulation of fat-soluble vitamins will be administered for 3 months. The primary outcome of this study is the measurement of serum levels of fat-soluble vitamins. The secondary outcomes are clinical assessment by the Shwachman-Kulczycki score, anthropometrics, and quality of life. Outcomes will be assessed before and after 3 months.DiscussionDue to persistent fat-soluble vitamin deficiency in CF disease, the nanomicelle formulation could be proposed as a new delivery method of fat-soluble vitamins in the treatment of cystic fibrosis.Trial registrationIranian Registry of Clinical Trials IRCT20220415054541N1. Registered on July 23, 2022.

Nutritional Delivery and Adequacy during Bile Reinfusion in Post-Surgical Patients

Background: Bile acid and salts depletion from high output bile in post- gastrointestinal surgical patients can lead to fat malabsorption causing malnutrition, fat-soluble vitamin deficiencies, dehydration, acute kidney injury and electrolyte abnormalities. Bile reinfusion is a method for restoration of bile salts in the gut. However, there are no studies which describe feeding delivery and nutritional adequacy during bile reinfusion. Methods: Patients undergoing gastrointestinal surgery and who have high bile output >500ml were included. Patients were started on oral, tube feeding and/or parenteral nutrition. Results: Twenty post- gastrointestinal surgical patients with a mean age of 48±13.5years and body mass index of 23.94±4.0kg/m2 had high output bile and in whom reinfusion was initiated. An average volume of 531±438ml/day of bile was reinfused for 9±4.99days along with oral diet or tube feeding and/or parenteral nutrition. Of the 20patients, 2 were exclusively on tube feeding, 5 on tube feeding and oral, 7 on oral and supplemental parenteral nutrition, and 6 on tube feeding with supplemental parenteral nutrition. Adequacy of energy and protein were categorized as ≥70% and <70%. Adequacy of protein and energy of ≥70% was achieved among 13patients (p=0.004, p=0.012). Although the adequacy was not statistically significant due to the small sample size, 18patients were discharged in clinically good condition and 2patients did not survive. Conclusions: The improvement in the patient’s nutrition, as in this study, is probably a significant contributing factor towards a positive postoperative outcome. Clinical benefits of this technique include fluid and electrolyte balance and optimal utilization of remaining absorptive capacity for enteral and/or oral nutrition.

Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.

Alagille syndrome and progressive familial intrahepatic cholestasis are conditions that can affect multiple organs. Advancements in molecular testing have aided in the diagnosis of both. The impairment of normal bile flow and secretion leads to the various hepatic manifestations of these diseases. Medical management of Alagille syndrome and progressive familial intrahepatic cholestasis remains mostly targeted on supportive care focusing on quality of life, cholestasis, and fat-soluble vitamin deficiency. The most difficult therapeutic issue is typically related to pruritus, which can be managed by various medications such as ursodeoxycholic acid, rifampin, cholestyramine, and antihistamines. Surgical operations were previously used to disrupt enterohepatic recirculation, but recent medical advancements in the use of ileal bile acid transport inhibitors have shown great efficacy for the treatment of pruritus in both Alagille syndrome and progressive familial intrahepatic cholestasis.

High prevalence of deficiencies in fat-soluble vitamins, minerals and trace elements but no relation with malnutrition in patients with gastroenteropancreatic neuroendocrine tumours using somatostatin analogue's

High prevalence of deficiencies in fat-soluble vitamins, minerals and trace elements but no relation with malnutrition in patients with gastroenteropancreatic neuroendocrine tumours using somatostatin analogue's