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The mini-gastric bypass (MGB) was introduced by Dr. Robert Rutledge in USA in 1997. It is a safe, rapid and effective bariatric operation. The MGB has slowly gained proponents throughout the world, particularly increasing in the past 5 years. The laparoscopic operation creates two components: first, a mildly restrictive lesser-curvature gastric pouch; second, a 150–200 cm long jejunal bypass with a single antecolic gastro-jejunostomy anastomosis, which leads to significant fat malabsorption. We hereby share our steps in operative technique. MGB was performed using five trocars. The steps include creation of a lesser omental window, creation of gastric pouch, gastrotomy, measuring the bypass limb, enterotomy and gastro-jejunostomy, followed by leak test. MGB is an excellent surgical modality for treatment of morbid obesity and its co-morbidities, with results even better than Roux-en- Y Gastric Bypass. However, it is very important to follow the correct steps to avoid complications.

Nuts are an important component of the Mediterranean Diet. They are consumed in a variety of forms and presentations: with vegetables in salads, with fruits in desserts, as snacks between meals. Nuts are nutritious-dense foods, rich in bioactive macronutrients, micronutrients, and phytochemicals. Their unique composition is responsible for their beneficial health effects. There is consistent evidence from randomized clinical trials and observational cohort studies of their beneficial effects. Consistency among populations, magnitude of the associations and plausible biological mechanisms support their protection for cardiovascular diseases and all-cause mortality. Contrary to the popular belief, despite they are rich in fat, available scientific evidence so far does not support the link between nut consumption and weight gain because of their satiety effects and fat malabsorption.

Intestinal segments in various forms have been used to reconstruct the urinary tract since the mid-1800s. Currently, many different forms of continent and incontinent diversion options exist. Incorporating bowel mucosa within the urinary tract leads to predictable metabolic and nutritional consequences. The use of ileum or colon can cause a hyperchloremic metabolic acidosis, vitamin B12 deficiency, osteoporosis, fat malabsorption, urinary calculi, and ammoniagenic encephalopathy. Due to metabolic and nutritional consequences associated with the use of jejunum and gastric segments, the use of these bowel segments is not recommended.

The relationship between calcium oxalate kidney stone formation and inflammatory bowel disease (IBD) was first noted in two large retrospective case series from the 1960s. In over 1,400 patients with inflammatory bowel disease, 92 of 1,468 patients (6%) were identified to have developed renal stones, an occurrence that appeared as frequent as other systemic complications of this disease process [1, 2]. The mechanisms behind this high stone incidence were confirmed in the 1970s to be a complication of fat malabsorption and chronic diarrhea, which resulted in enteric hyperoxaluria, decreased urine citrate concentration and pH, and decreased urine volumes [3, 4]. Since those early descriptions, other malabsorptive intestinal disease states have also been added to the IBD/stone- associated list, including jejunoileal bypass (historical) and Roux-en-Y gastric bypass for obesity, chronic mesenteric ischemia, and small bowel ostomies [5, 6]. In general, patients with ileocolonic disease (9–17%) tend to be more commonly affected than those with ileal (6–8%) or colonic disease (3–5%) alone, and stone composition varies between calcium oxalate (malabsorptive diseases, ileocolonic Crohn’s disease) and uric acid (copious diarrhea, small bowel ostomies) depending on the disease state and amount of volume loss/diarrhea. This chapter will highlight the urinary abnormalities seen in modern bariatric surgical patients and in patients with the two most common forms of IBD (Crohn’s, ulcerative colitis) with a focus on the nutritional aspects that can be improved in these stone-forming populations.

Roux-en-Y gastric bypass (RYGB) is traditionally classified as a combined restrictive and malabsorptive operation. This notion of the operation influences its technical variations and revisions for patients who do not achieve significant weight loss after this surgery. There is an increasing body of literature suggesting a role for appetite suppression mediated by neuro-hormonal signals after RYGB. The purpose of this paper was to systematically review published English language scientific literature to determine the role of malabsorption towards weight loss achieved with RYGB. This review finds that there is little or no malabsorption of carbohydrates or protein after RYGB but there is some fat malabsorption. Overall, malabsorption makes a little (approximately 11.0% in the early period) overall contribution to weight loss after RYGB.

With the development of new drugs that directly affect CFTR protein function, clinical trials are being designed or initiated for a growing number of patients with cystic fibrosis. The currently available and accepted clinical endpoints, FEV1 and BMI, have limitations.The aim of this report is to draw attention to the need and the ample possibilities for the development and validation of relevant gastrointestinal clinical endpoints for scientific evaluation of CFTR modulation treatment, particularly in young children and infants.The gastrointestinal tract offers very good opportunities to measure CFTR protein function and systematically evaluate CF related clinical outcomes based on the principal clinical gastrointestinal manifestations of CF: intestinal pH, intestinal transit time, intestinal bile salt malabsorption, intestinal inflammation, exocrine pancreatic function and intestinal fat malabsorption.We present a descriptive analysis of a variety of gastrointestinal outcome measures for clinical relevance, reliability, validity, responsiveness to interventions, feasibility in particular in young children and the availability of reference values. (C) 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Chronic pancreatitis (CP) is defined as a continuing inflammatory disease of the pancreas that is characterized by irreversible morphological changes often associated with pain and the loss of exocrine and/or endocrine function, which may be clinically relevant. Maldigestion (absolute deficiency of pancreatic enzyme secretion) is a typical complication of CP of any etiology with long anamnesis. Fat malabsorption is considered to be the malnutrition base in CP patients. The purpose of this article is to evaluate the role of nutritive status and nutritive deficiency in CP patients, evaluate diagnostic approaches, correct nutritive status deviation with reference to previous experience, and explore the present situation and possible future perspectives.

Bariatric surgery is associated with hyperoxaluria hence predisposing to nephrolithiasis. The present study aimed to investigate the underlying mechanisms contributing to increased urinary oxalate in a mini-gastric bypass (MGB) surgery model in rats under different dietary conditions. The expression of intestinal oxalate transporters was also evaluated. Male rats underwent MGB (n = 21) or Sham procedure (n = 21) and after recovery were fed a standard or high-fat diet with or without oxalate for 8 weeks. Stool and urine were collected before surgery (baseline) and at the end of protocol (final), when intestinal fragments were harvested for expression of Slc26a3 and Slc26a6 oxalate transporters. MGB groups fed with fat, irrespective of oxalate supplementation, presented steatorrhea. In MGB animals fed with fat and oxalate (Fat + Ox), final values of urinary oxalate and calcium oxalate supersaturation risk were markedly and significantly increased versus baseline or Sham animals under the same diet, as well as MGB groups under other diets. Slc26a3 was decreased in biliopancreatic limbs of MGB rats, probably reflecting a physiological adaptation to the restriction of food passage. Slc26a6 was not altered in any harvested intestinal fragment. A high-fat and oxalate diet induced hyperoxaluria and elevation in calcium oxalate supersaturation risk in a MGB rat model. The presence of fat malabsorption and increased dietary oxalate absorption, but not modifications of Slc26a3 and Slc26a6 oxalate transporters, accounted for these findings, suggesting that bariatric patients may benefit from a low-fat and low-oxalate diet.

Supplemental enteral nutrition (EN) is used by approximately 12% of people with cystic fibrosis (CF). The objective of this study was to evaluate the safety, tolerability, and fat absorption of a new in-line digestive cartridge (Relizorb) that hydrolyzes fat in enteral formula provided to patients with CF.Patients with CF receiving EN participated in a multicenter, randomized, double-blind, crossover trial with an open-label safety evaluation period. Plasma omega-3 fatty acid (FA) concentrations were measured and used as markers of fat absorption. Gastrointestinal symptoms were recorded to evaluate safety and tolerability. Information regarding the effect of EN on appetite and breakfast consumption was also collected.Before study entry, participants had received EN for a mean of 6.6 years at a mean volume of approximately 800 mL, yet had a mean body mass index of only 17.5 kg/m and omega-3 FA plasma concentrations were only 60% of levels found in normal healthy subjects. Compared with placebo, cartridge use resulted in a statistically significant 2.8-fold increase in plasma omega-3 FA concentrations. There were no adverse experiences associated with cartridge use, and a decrease in the frequency and severity of most symptoms of malabsorption was observed with cartridge use. Participants reported increased preservation of appetite and breakfast consumption with cartridge use compared with their pre-study regimen.Use of this in-line digestive cartridge was safe and well tolerated, and resulted in significantly increased levels of plasma omega-3 FA used with enteral formula, suggesting an overall increased fat absorption.

Ataxia with vitamin E deficiency is a rare recessive disorder due to mutations in the α-tocopherol transfer protein gene. The disease usually starts between 4 and 18 years of age with progressive gait and limb ataxia, dysarthria, lower-limb areflexia, loss of proprioceptive and vibration sense, and extensor plantar response. Frequently, the patients have head titubation and retinopathy. The finding very low levels of plasma vitamin E, in the absence of clinical conditions associated with fat malabsorption, can guide differential diagnosis. Mutational screening of TTPA gene can identify the pathogenic mutations and confirm the diagnosis of AVED. Patients need vitamin E supplementation therapy for stabilization of the neurological symptoms.

Roux-en-Y gastric bypass (RYGB) is a popular weight loss surgery for adults with morbid obesity. This chapter reviews potential renal complications caused by abnormalities in oxalate handling after RYGB—i.e., enteric hyperoxaluria, calcium oxalate (CaO x ) nephrolithiasis, and oxalate nephropathy. Hyperoxaluria is an adverse effect of RYGB that occurs due to fat malabsorption and contributes to CaO x nephrolithiasis and oxalate nephropathy. Risk factors for CaO x kidney stones after RYGB include low urine volume, high urine oxalate, and low urine citrate. Oxalate nephropathy is diagnosed by the characteristic kidney biopsy finding of acute tubular injury with oxalate crystals in renal tubules. Therapies to lower urine oxalate include lowering fat and oxalate intake, using calcium supplements to bind oxalate, bile acid sequestrants, or probiotics that degrade intraluminal oxalate. Physicians need to be aware of the possibility of oxalate-mediated renal complications after RYGB, and promptly treat hyperoxaluria to stop kidney damage.

The concept of the laparoscopic Roux-en-Y gastric bypass (LRYGB) is both restriction and malabsorption (mostly fat malabsorption since most of the duodenum is bypassed). This procedure was initially described in the 1960s by Drs. Mason and Ito [1]. Prior to being a weight loss tool, this procedure was performed for patients with chronic ulcers. However, the long-term weight loss noted in these patients led to the conclusion that it could also be used to help patients with morbid obesity. Over the course of the years since it has been introduced, this procedure has undergone multiple modifications to become the procedure that it is now.

Objective Quantitative determination of fecal fat still is the gold standard for measuring malabsorption. We evaluated the importance of standardized food intake before and under the collection of feces. Material and Methods In a project, evaluating patients with suspected chronic pancreatitis (CP) and healthy volunteers (HC), stools were collected for 72 hours coupled to registration of nutritional intake over five consecutive days. Patient groups were created by a modified Layer score, which includes imaging findings, clinical parameters and pancreas function testing. Results We found 12 patients with CP, 11 patients without CP and 13 healthy individuals in our database. Median fecal fat in CP patients was 12 g/day, in non-CP patients 5 g/day and in healthy controls 5 g/day. Median fat absorption coefficient was 81% in those with chronic pancreatitis, 92% in those without CP and 92% in healthy controls. Corresponding median fat intake was 65 g/day, 68 g/day and 81 g/day in the respective groups. Spearman Rank Order Correlation between fecal fat (g/d) and fat absorption coefficient in all study subjects (n = 36) was good (-0.88 (p

Background Exocrine pancreatic insufficiency (EPI) is characterized by a deficiency of exocrine pancreatic enzymes, resulting in malabsorption. Numerous conditions account for the etiology of EPI, with the most common being diseases of the pancreatic parenchyma including chronic pancreatitis, cystic fibrosis, and a history of extensive necrotizing acute pancreatitis. Treatment for EPI includes dietary management, lifestyle changes (i.e., decrease in alcohol consumption and smoking cessation), and pancreatic enzyme replacement therapy. Discussion Many diagnostic tests are available to diagnose EPI, however, the criteria of choice remain unclear and the causes for a false-positive test are not yet understood. Despite multiple studies on the treatment of EPI using exogenous pancreatic enzymes, there remains confusion amongst medical practitioners with regard to the best approach to diagnose EPI, as well as dosing and administration of pancreatic enzymes. Summary Appropriate use of diagnostics and treatment approaches using pancreatic enzymes in EPI is essential for patients. This opinion piece aims to address the existing myths, remove the current confusion, and function as a practical guide to the diagnosis and treatment of EPI.

For the assessment of fat malabsorption, the standard method of measuring faecal fat excretion using a 5 day stool collection has been compared with the alternative methods: stool microscopy, a lipid tolerance test and a continuous marker technique for the estimation of fat content on a single stool sample. The lipid test, using an emulsion of arachis oil (Prosparol), was less reliable than had been expected with a sensitivity of 33% and a specificity of 45.4%. Stool microscopy using Oil Red O to stain fat globules had a sensitivity of 72.2% and a specificity of 95.4%. Fat estimation of a single stool sample using copper (1) thiocyanate showed a high correlation with that determined on a 5 day stool collection (p less than 0.001). It is concluded that lipid tolerance tests have little place in the estimation of fat absorption. In laboratories where faecal fats are not measured, microscopic examination of stool for fat globules provides a specific and relatively sensitive method for detecting steatorrhoea. The use of a continuous marker provides a method for assessing the degree of steatorrhoea on a single stool sample without the disadvantages of the conventional method of faecal fat analysis.

For many years the role of vitamin E (α-tocopherol) in human nutrition was uncertain, but it is now recognised that this fat soluble vitamin is necessary for normal neurological structure and function. The evidence came initially from patients with abetalipoproteinaemia, then from patients with other chronic and severe fat malabsorptive states, from patients with an isolated deficiency of vitamin E without generalised fat malabsorption, and from comparative neuropathological studies in vitamin E deficient man, monkey and rat. Severe and chronic vitamin E deficiency in the different patient groups resulted in a characteristic neurological disorder which progressed to crippling and blindness. Early and appropriate supplementation with vitamin E can prevent the development of all the neurological signs and symptoms, and treatment of patients with established lesions invariably halts and in some cases can reverse the neuropathy. These clinical and pathological findings raise a number of basic questions regarding the function of vitamin E in neural tissues which are currently being addressed in an animal model.

Weight loss in chronic heart failure (CHF) occurs frequently, progressively and its reversal is rare. Weight loss of more than 6% is used to define the presence of cachexia. Patients with CHF develop skeletal muscle and cardiac muscle atrophy. Anorexia plays a significant role in only 10–20% of all cases of cardiac cachexia. Higher resting metabolic rate in patients with heart failure at least partially accounts for unexplained weight loss. Fat malabsorption and protein loss are thought to be influenced mainly by bowel perfusion and bowel edema and may contribute to the development of cardiac cachexia. A severe catabolic/anabolic imbalance in favor of catabolic metabolism is observed in cachectic CHF patients. Food intake should be assessed in order to identify and stop dietary restrictions recommended for cardiovascular risk factors and no more indicated in patients with cachexia. Many enriched small meals are necessary to cover energy and protein requirements. If this first attempt fails, nasogastric tube feeding is indicated. Parenteral nutrition should be reserved for those patients in whom enteral nutrition has failed.

Abetalipoproteinemia is an uncommon cause of ataxia and retinitis pigmentosa (RP). Most of the neurological and ocular manifestations occur secondary to deficiency syndromes that is consequent to fat malabsorption from the small intestine. In this report, we have described the phenotype of a young adult female who manifested with recurrent diarrheal illness in her first decade, followed by anemia, RP, and neurological involvement with progressive deafness, cerebellar and sensory ataxia, and subclinical neuropathy in her second decade of life. While RP and sensory ataxia due to vitamin E deficiency are well-recognized features of abetalipoproteinemia, deafness is rarely described. In addition, we have highlighted the abnormal posterior column signal changes in the cervical cord in this patient. Early recognition avoids unnecessary investigations and has a potential to retard the disease progression by replacing some of the deficient vitamins.

To determine if ivacaftor treatment results in weight gain and improved pulmonary function in people with cystic fibrosis transmembrane conductance regulator gating mutations.Children and adults with cystic fibrosis and at least 1 cystic fibrosis transmembrane conductance regulator gating mutation were evaluated in this observational study before and after 3 months of ivacaftor treatment. Body size and composition, total energy expenditure, resting energy expenditure (REE%) as percent predicted, coefficient of fat absorption (CFA%), fecal calprotectin, fecal elastase, and quality of life were assessed. Some outcomes were explored by pancreatic status.There were 23 patients (5-61 years of age) who completed the study; 70% had pancreatic insufficiency (PI). Patients gained 2.5 ± 2.2 kg (P .001) with increased (P .05) fat-free mass (0.9 ± 1.9 kg) and fat mass (1.6 ± 1.5 kg). REE% decreased by 5.5 ± 12.0% (P .05), fecal calprotectin decreased by 30 ± 40 µg/g stool (P .01), and total energy expenditure was unchanged. Improvements were greater for PI than patients who were pancreatic-sufficient. CFA% increased significantly only with PI. The change (Δ) in weight was positively correlated with the percent change in forced expiratory volume at 1 second (r = 0.46; P = .028) and ΔCFA% (r = 0.47; P = .032) and negatively with ΔREE% (r = -0.50; P = .017). Together, ΔREE%, ΔCFA%, and the percent change in forced expiratory volume at 1 second explained 58% of the variance in weight gain (adjusted RMechanisms identified for ivacaftor-associated weight gain were decreased REE, gut inflammation, and fat malabsorption (CFA).ClinicalTrials.gov: NCT02141464.

Fat malabsorption is common after SBT. To identify whether anatomic variant transplants differ in occurrence of exocrine pancreatic insufficiency that could contribute to fat malabsorption, we measured FPE repeatedly in 54 recipients of a SBT, ages 6.2 to 320 months. FPE determination most distant from SBT was 6.1 years. Of the 54, 39% received an isolated intestinal graft (native pancreas only), 48% received an en bloc liver-intestinal-pancreas graft (native and graft pancreas), and 13% received a multivisceral graft (graft pancreas only). Initial FPE was normal (>200 μg/g) in 15 of the 54 at a median of 22 (11-61) days after SBT. Recipients of a liver-intestine-pancreas transplant were more likely to have normal FPE within 30 days after SBT than were isolated intestinal or multivisceral transplant recipients (47%, 19%, and 0%, respectively, P = .049). Of the remaining 39 patients, 34 eventually demonstrated a normal FPE at a median of 168 (31-943) days after SBT. Type of SBT did not influence the likelihood of achieving a normal FPE level or time when it occurred. Five (9%) patients failed to achieve normal FPE, including 3 who died within 2 years after SBT. In conclusion, possessing both graft and native pancreas as in transplantation of an en bloc liver-intestinal-pancreas graft facilitates early normalization of FPE that eventually occurs in most patients irrespective of transplant type. Failure to recover normal pancreatic function may be associated with severe post-transplant complications.

Summary Background & aims It is unknown what feeding strategy to use to prevent weight loss in patients with chemotherapy-induced gastrointestinal mucositis. When possible, enteral nutrition is preferred to parenteral nutrition because of negative side effects. In a mucositis rat model, we demonstrated disaccharide maldigestion and fat malabsorption but up to normal absorption of glucose and amino acids upon their continuous enteral administration. We now determined the effects of four different (par)enteral feeding strategies during mucositis on body weight and intestinal recovery. Methods From days 2 to 5 after injection with methotrexate (60 mg/kg), rats continued ad libitum enteral feeding with purified diet (AIN-93G, strategy 1), received continuous enteral feeding [force-feeding, normal daily amounts] with glucose and amino acids (Nutriflex ® , strategy 2) or with standard formula (Nutrini ® , strategy 3), or received continuous parenteral feeding with standard formula (NuTRIflex ® Lipid, strategy 4). Saline-treated controls continued ad libitum purified diet. Results From day 2 on, methotrexate-treated ad libitum-fed rats showed a reduced food intake and body weight ( P P Conclusion Continuous enteral feeding in normal daily amounts during mucositis is poorly tolerated in rats. Parenteral feeding prevents weight loss during mucositis while enteral feeding in limited amounts accelerates intestinal recovery.

Objective: A Malabsorption Blood Test (MBT) is proposed as an alternative method to the 72-hour stool and dietary collection for assessing the degree of fat malabsorption in people with pancreatic insufficiency. The MBT consists of a simultaneous oral dose of pentadecanoic acid (PA), a free fatty acid, and triheptadecanoic acid (THA), a triglyceride with three heptadecanoic (HA) saturated fatty acids requiring hydrolysis by pancreatic lipase before HA can be intestinally absorbed. The aim of this study is to demonstrate the ability of MBT to detect fat malabsorption in healthy adult subjects using the pancreatic lipase (PL) inhibitor Orlistat (Xenical®), and in subjects with CF and PI while on and off routine pancreatic enzyme doses. Materials and methods: The MBT with the PA and THA were delivered in a breakfast test meal (2.5 g PA and either 5 g or 8 g THA) to healthy adult subjects (ages 18 – 50 years, BMI 21 – 30) and to subjects with CF (> 12 years, FEV1% predicted > 40%), after a 12-hour fast and 24 hours without dairy foods. Serum levels of PA and HA were assessed by gas-liquid chromatography, from blood samples drawn prior to MBT and then hourly for 8 hours. For healthy subjects, the MBT was administered before and after Orlistat treatment, and in subjects with CF, both with subjects receiving routine pancreatic lipase treatment (“on enzyme”) and also “off enzyme” treatment. Treatment groups were compared for baseline (C0) and maximum (Cmax) plasma concentrations of PA and HA over 8 hours: area under the curve (AUC) was calculated using linear trapezoid method. The ratio of HA to PA Cmax and AUC was also calculated and compared. Results: For the healthy subjects (n = 15, 60% female, ages 21 – 49 years), absorption of HA was reduced 71% for Cmax (p

Abetalipoproteinemia (ABL, OMIM 200100) is a very rare metabolic disease with reported prevalence of less than one case per 100,000. It is an autosomal recessive disease resulting from mutations in the gene encoding microsomal triglyceride transfer protein (MTP). Affected patients present with a wide range of clinical symptoms during infancy. Typical manifestations are failure to thrive, low level of cholesterol and fat malabsorption. Other features like fatty liver, acanthocytosis and anemia are usually present. Low fat diet and fat-soluble vitamins are the main stay of therapy. This is a retrospective review of three patients admitted to Salmaniya medical complex (SMC), Bahrain, with ABL. We presented the clinical presentations, diagnosis, response to medical therapy and outcome of these three infants along with a literature review about ABL. A novel MTP gene mutation, c.1508_1515delTGGCTACC (p.Leu503Hisfs*7, exon 11, MTTP), was detected. Two patients responded to dietary modifications and one deceased.

Extrahepatic biliary atresia classically presents in the neonatal period with jaundice and pale stools. The lack of bile pigment in stool can be unrecognised, delaying diagnosis and surgical treatment. Vitamin K is given at birth to reduce the risk of haemorrhagic disease of the newborn, but this may be inadequate to prevent the development of coagulopathy secondary to fat soluble vitamin malabsorption. We present the case of a 3 month old infant who presented with an intracerebral haemorrhage and coagulopathy thought to be secondary to fat malabsorption resulting from delayed diagnosis of extrahepatic biliary atresia. This was despite the perinatal administration of intramuscular vitamin K. His parents did not recognise the stool pallor as being abnormal. This case illustrates the importance of educating parents on the significance of pale stools, and also the risk of coagulopathy in extrahepatic biliary atresia despite perinatal intramuscular vitamin K.

Fat malabsorption is an important cause of poor growth in infancy and childhood. Steatorrhea tests have been devel- oped using various methods. Traditional measurements of stool fat, however, require large samples and it often takes as a week to complete the analysis. In this paper, a liquid chromatography-electrospray ionization/mass spectrometry (LC-ESI/MS) method was developed for simultaneous quantitative analysis of triacylglycerols, triolein, diolein and monoolein, in mouse feces. More- over, the procedure was rapid, simple as well as compatible with LC-ESI/MS. Chloroform-isopropyl alcohol solution was used for fat-soluble sample extraction. After centrifugation and filtration, an analytical solution was prepared. Triolein, diolein and monoolein were separated using non-aqueous reversed-phase column with the mobile phase consisting of A (methanol) and B (acetone-isopropyl alcohol). The precision (% CV) and accuracy (% bias) of the assay were 3.8-14.7% and 85.2-114.9%, respec- tively. This method has been successfully applied to simultaneous determination of triolein, diolein and monoolein in feces from 30 mice. This method can therefore be applied to measure triacylglycerols in mouse feces accurately and precisely by LC-ESI/ MS, thereby helping to predictive biomarker in fat malabsorption and diagnostic research.

Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by mutations of the MTTP gene. This disease is characterised by a defect in the lipidation of APO B and the absence of VLDL and chylomicron production. Patients affected by ABL present neurological, hemalogical and gastro-intestinal symptoms due to deficiency in lipophilic vitamins and fat malabsorption. We herein report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia and one presenting a much attenuated phenotype. The proband carried a novel combination of MTTP mutations, the 1867+1G>A and the R540C mutations. This patient never received any vitamin supplements and was relatively free of symptoms despite an undetectable APO B concentration. Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL. In conclusion we report a very unusual kindred where on affected member is strongly symptomatic of ABL whereas the other presents very mostly asymptomatic disease suggesting that ABL can present itself with a very incomplete clinical penetrance.

In spite of the presence of definitive diagnostic criteria to diagnose Cushing syndrome diagnosis may become challenging. We report a young female with mild clinical features of Cushing syndrome, who had nonsuppressible oral dexamethasone suppression tests; also she had a suspicious pituitary lesion. She underwent pituitary surgery and a pituitary microadenoma (non-ACTH staining) was removed. Now she had come to us with similar complaints to those before. Again she had nonsuppressible oral dexamethasone suppression tests. As the diurnal variation of serum and salivary cortisol was maintained and urinary free cortisol was normal, further evaluation with IV dexamethasone suppression test was performed which clearly ruled out Cushing syndrome. The patient was not on any medicines known to alter dexamethasone metabolism. Fat malabsorption was also ruled out using appropriate tests. The reason for this discrepancy is thought to be altered (increased) metabolism of dexamethasone in this patient as it is widely variable in the general population.

Vitamin D deficiency occurs frequently in patients with cystic fibrosis (CF). Vitamin D is important for optimal mineralization of bone and may be important for other comorbidities commonly occurring in patients with CF. Vitamin D deficiency in patients with CF can arise from various causes including pancreatic exocrine insufficiency, lack of outdoor activity, and alterations of vitamin D metabolism. Due to fat malabsorption stemming from pancreatic insufficiency, higher oral doses of vitamin D are necessary to correct and maintain optimal vitamin D status in patients with CF. Recent studies have demonstrated that higher vitamin D status is associated with better lung function and that vitamin D therapy may help recovery from pulmonary exacerbations of CF. The mechanisms by which vitamin D may exert its beneficial actions in CF are unclear but likely related to the role vitamin D has in modulating the adaptive and innate immune response. Large randomized clinical studies to evaluate the potential role of vitamin D as adjunctive therapy in CF that goes beyond bone are necessary.

Cystic fibrosis (CF) results in inflammation, malabsorption of fats and other nutrients, and obstruction in the gastrointestinal (GI) tract, yet the mechanisms linking these disease manifestations to microbiome composition remain largely unexplored. Here we used metagenomic analysis to systematically characterize fecal microbiomes of children with and without CF, demonstrating marked CF-associated taxonomic dysbiosis and functional imbalance. We further showed that these taxonomic and functional shifts were especially pronounced in young children with CF and diminished with age. Importantly, the resulting dysbiotic microbiomes had significantly altered capacities for lipid metabolism, including decreased capacity for overall fatty acid biosynthesis and increased capacity for degrading anti-inflammatory short-chain fatty acids. Notably, these functional differences correlated with fecal measures of fat malabsorption and inflammation. Combined, these results suggest that enteric fat abundance selects for pro-inflammatory GI microbiota in young children with CF, offering novel strategies for improving the health of children with CF-associated fat malabsorption.

OBJECTIVE The standard measure of pancreatic enzyme replacement therapy (PERT) efficacy in treating exocrine pancreatic insufficiency (EPI) is the coefficient of fat absorption (CFA). CFA measurement involves 72-hour stool collection, which presents a logistical challenge because, although the test may be performed on an outpatient basis in clinical practice, hospitalization is needed if assurance of complete collection and 100% compliance is required, for example, in controlled situations such as clinical trials. Our aim was to investigate sparse stool sample collection as an alternative to complete 72-hour collection for measurement of stool fat in subjects with EPI. SUBJECTS AND METHODS Prospective data analysis from a previously published, double-blind, randomized, placebo-controlled, 2-period crossover trial in subjects ages 7 to 11 years with EPI caused by cystic fibrosis. Percentage fat (PF) data from sparse stool samples were compared with 72-hour CFA values as a dichotomous variable (

Background: Pancreatic enzyme replacement therapy (PERT) improves nutritional status and growth in patients with cystic fibrosis (CF) with pancreatic insufficiency (PI). The current recommendation for infants and young children, who are not able to swallow the whole capsule, is to open the capsule and mix the beads in a spoon with some applesauce; however, the efficacy and safety data of this approach are currently lacking. The aim of this study was to assess the efficacy, palatability (ease of swallowing), and safety of 4 dose levels of pancrelipase microtablets (Pancrease MT) in infants and young children with CF-related PI.Patients and Methods: This study was a phase II randomized, investigator-blinded, parallel-group pilot study in DNA-proven infants with CF and PI. The study design included a run-in period (days 1-5) and an experimental period (days 6-11). Pancrelipase microtablets (2-mm, enteric coated) were provided orally. Sixteen subjects, 6 to 30 months of age, were provided 500 U lipase/kg/meal for 5 days (baseline period). Subsequently, subjects were randomly assigned to 1 of 4 treatment groups (each n = 4), receiving 500, 1000, 1500, or 2000 U (Ph. EUR) of lipase/kg/meal, respectively, for 5 days (experimental period). The primary endpoint was medication efficacy assessed by the 72-hour fecal fat excretion, expressed as coefficient of fecal fat absorption (CFA), and (13)C mixed triglyceride breath test. Secondary endpoints were safety and palatability.Results: Overall compliance, defined as used study medication, was 89% to 99% for the entire study. None of the 4 dose regimens significantly influenced the CFA, relative to the baseline period (median range 83%-93%). During the run-in period the median cumulative % (13)C was 11 (range -8 to 59). After randomization the median cumulative % (13)C was 18 (range 14-23) in the 500-U, 14 (range -1 to 17) in the 1000-U, 10 (range 10-27) in the 1500-U, and 3 (range 1-49) in the 2000-U groups. Palatability was scored fair to good by the parents in each of the treatment groups. Gastrointestinal symptoms were reported in some patients, including common adverse events reported in clinical trials involving pancreatic enzyme therapy. No serious or other adverse events were reported.Conclusion: Treatment with Pancrease MT at a dosage of 500 U lipase/kg/meal resulted in a CFA of approximately 89% in pediatric subjects ages 6 to 30 months with PI resulting from CF. Pancrease MT doses were well tolerated and mean palatability was scored as fair to good. Present results do not indicate that a dosage higher than 500 U (Ph. EUR) lipase/kg/meal increases the coefficient of fat absorption in a cohort of infants 6 to 30 months of age.

Background Hyperoxaluria and increased calcium oxalate stone formation occur after Roux-en-Y gastric bypass (RYGB) surgery for morbid obesity. The etiology of this hyperoxaluria is unknown. We hypothesized that after bariatric surgery, intestinal hyperabsorption of oxalate contributes to increases in plasma oxalate and urinary calcium oxalate supersaturation. Methods We prospectively examined oxalate metabolism in 11 morbidly obese subjects before and 6 and 12 months after RYGB ( n = 9) and biliopancreatic diversion-duodenal switch (BPD-DS) ( n = 2). We measured 24-hour urinary supersaturations for calcium oxalate, apatite, brushite, uric acid, and sodium urate; fasting plasma oxalate; 72-hour fecal fat; and increases in urine oxalate following an oral oxalate load. Results Six and 12 months after RYGB, plasma oxalate and urine calcium oxalate supersaturation increased significantly compared with similar measurements obtained before surgery (all P ≤ .02). Fecal fat excretion at 6 and 12 months was increased ( P = .026 and .055, 0 vs 6 and 12 months). An increase in urine oxalate excretion after an oral dose of oxalate was observed at 6 and 12 months (all P ≤ .02). Therefore, after bariatric surgery, increases in fecal fat excretion, urinary oxalate excretion after an oral oxalate load, plasma oxalate, and urinary calcium oxalate supersaturation values were observed. Conclusion Enteric hyperoxaluria is often present in patients after the operations of RYGB and BPD-DS that utilize an element of intestinal malabsorption as a mechanism for weight loss.

Fat malabsorption in pancreatic insufficient cystic fibrosis (CF) patients is classically treated with pancreatic enzyme replacement therapy (PERT). Despite PERT, intestinal fat absorption remains insufficient in most CF patients. Several factors have been suggested to contribute to the persistent fat malabsorption in CF (CFPFM). We reviewed the current insights concerning the proposed causes of CFPFM and the corresponding intervention studies. Most data are obtained from studies in CF patients and CF mice. Based on the reviewed literature, we conclude that alterations in intestinal pH and intestinal mucosal abnormalities are most likely to contribute to CFPFM. The presently available data indicate that acid suppressive drugs and broad spectrum antibiotics could be helpful in individual CF patients for optimizing fat absorption and/or nutritional status. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Fat malabsorption in pancreatic insufficient cystic fibrosis (CF) patients is classically treated with pancreatic enzyme replacement therapy (PERT). Despite PERT, intestinal fat absorption remains insufficient in most CF patients. Several factors have been suggested to contribute to the persistent fat malabsorption in CF (CFPFM). We reviewed the current insights concerning the proposed causes of CFPFM and the corresponding intervention studies. Most data are obtained from studies in CF patients and CF mice. Based on the reviewed literature, we conclude that alterations in intestinal pH and intestinal mucosal abnormalities are most likely to contribute to CFPFM. The presently available data indicate that acid suppressive drugs and broad spectrum antibiotics could be helpful in individual CF patients for optimizing fat absorption and/or nutritional status. (C) 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Meconium ileus at birth, distal intestinal obstruction syndrome (DIOS), and constipation are an interrelated group of intestinal obstruction syndromes with a variable severity of obstruction that occurs in cystic fibrosis patients. Long-term follow-up studies show that today meconium ileus is not a risk factor for impaired nutritional status, pulmonary function, or survival. DIOS and constipation are frequently seen in cystic fibrosis patients, especially later in life; genetic, dietary, and other associations have been explored. Diagnosis of DIOS is based on suggestive symptoms, with a right lower quadrant mass confirmed on abdominal radiography, whereas symptoms of constipation are milder and of longer standing. In DIOS, early aggressive laxative treatment with oral laxatives (polyethylene glycol) or intestinal lavage with balanced osmotic electrolyte solution and rehydration is required, which now makes the need for surgical interventions rare. Constipation can generally be well controlled with polyethylene glycol maintenance treatment.

Background/Objectives:The increase of bone disease in adult cystic fibrosis (CF) patients is partly attributed to inadequate serum concentrations of 25-OH cholecalciferol (25 (OH) D) blamed on fat malabsorption. Based on physiological, clinical and biochemical observations this pathogenesis is debatable. The objective was to ascertain the relative importance of different 25 (OH) D sources.Subjects/Methods:Over 4 consecutive years, 474 annual 25 (OH) D serum concentrations from 141 CF patients of all ages were compared with values of healthy peers and weighed against annual ultraviolet B (UVB) exposure.Results:Ranked per month, 25 (OH) D concentrations depicted a curve strikingly parallel to the amount of UVB exposure in the preceding months. A significant difference exists between 25 (OH) D concentrations in the 'Months with high UVB exposure' (May-October) and the 'Months with low UVB exposure' (November-April) but not with healthy controls in the same period.Conclusions:25 (OH) D concentrations clearly respond to the amount of sunshine in preceding months. They are not clearly influenced by daily oral supplements of 800?IU of cholecalciferol. Sun exposure should be encouraged, and the recommended dosage of oral supplements increased.

A study on 1043 children aged 3 days to 2 years hospitalized in the Department of Child Health, from 1 January to 31 December 1976, was made fo find out the relation between breast milk and bottle milk with gastroenteritis, especially concerning bacterial, fungal infection and fat malabsorption.

Summary Ileal bypass by re-section and jejunocaecostomy is a commonly performed surgery in horses, but has a reportedly lower success rate than other small intestinal surgeries. Lower success rates and chronic problems with diarrhoea, weight loss, protein, sugar and fat malabsorption, and Ca/P imbalance occur in man. The purpose of this study was to investigate changes in bodyweight, nutrient digestion and absorption, and serum and urine composition in horses before and 3, 12 and 27 weeks after ileal resection and side-to-side jejunocaecostomy. Four adult, healthy horses had a baseline CBC; serum creatinine, cholesterol, Na, K, Cl, Mg, Ca, P; digestion trial; xylose and fat absorption test; and serum total bile acid test. Digestion of dry matter, crude protein, total plant cell wall, cellulose, hemicellulose, and lignin; and urinary fractional excretions of Na, K, Cl, P and Ca were calculated. A one-way analysis of variance compared baseline values to those obtained after caeliotomy and jejunocaecostomy (P

Background & Aims Cholecystokinin (CCK) is a satiation peptide released during meals in response to lipid intake; it regulates pancreatic digestive enzymes that are required for absorption of nutrients. We proposed that mice with a disruption in the CCK gene (CCK knockout [CCK-KO] mice) that were fed a diet of 20% butter fat would have altered fat metabolism. Methods We used quantitative magnetic resonance imaging to determine body composition and monitored food intake of CCK-KO mice using an automated measurement system. Intestinal fat absorption and energy expenditure were determined using a noninvasive assessment of intestinal fat absorption and an open circuit calorimeter, respectively. Results After consuming a high-fat diet for 10 weeks, CCK-KO mice had reduced body weight gain and body fat mass and enlarged adipocytes, despite the same level of food intake as wild-type mice. CCK-KO mice also had defects in fat absorption, especially of long-chain saturated fatty acids, but pancreatic triglyceride lipase did not appear to have a role in the fat malabsorption. Energy expenditure was higher in CCK-KO than wild-type mice, and CCK-KO mice had greater oxidation of carbohydrates while on the high-fat diet. Plasma leptin levels in the CCK-KO mice fed the high-fat diet were markedly lower than in wild-type mice, although levels of insulin, gastric-inhibitory polypeptide, and glucagon-like peptide-1 were normal. Conclusions CCK is involved in regulating the metabolic rate and is important for lipid absorption and control of body weight in mice placed on a high-fat diet.

Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large quantity of fats in feces and malabsorption of fat-soluble vitamins. Intestinal biopsies showed a diffused enterocyte vacuolization with large cytosolic lipid droplets. Chylomicron retention disease or Anderson disease was hypothesized, and the Sara2 gene was analyzed by direct sequencing. Analysis of the Sara2 gene in the proband identified a 2-nucleotide homozygous deletion in exon 3 leading to a premature stop codon (c.75-76 del TG-L28fsX34). The father was heterozygous for the same mutation, whereas the proband's mother was homozygous, suggesting a variable phenotypic expression of the molecular defect. More studies are needed to understand the reasons of the phenotypic variability of the same molecular defect in the same family.