DGAT1 mutations leading to delayed chronic diarrhoea: a case report.

BACKGROUND: Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION: Here, we report a female patient with DGAT1 mutations with delayed-onset chronic diarrhoea. The patient had vomiting, hypoalbuminemia, hypertriglyceridemia, and failure to thrive at early infancy. Her intractable chronic diarrhoea occurred until she was 8 months of age. A compound heterozygous DGAT1 mutation was found in the patient, which was first found in the Chinese population. Her symptoms and nutrition status improved after nutritional therapy, including a fat restriction diet. CONCLUSIONS: This case expanded our knowledge of the clinical features of patients with DGAT1 mutations. Intractable diarrhoea with delayed onset could also be a congenital disorder.

Switching from branched-chain amino acid granules to branched-chain amino acid-enriched nutrient improves the branched-chain amino acid-to-tyrosine ratio in patients with cirrhosis with hypoalbuminemia: a prospective study.

OBJECTIVE: The present study aimed to elucidate the effect of switching from branched-chain amino acid granules to branched-chain amino acid-enriched nutrient in patients with cirrhosis with hypoalbuminemia. METHODS: Twenty-six patients with cirrhosis with hypoalbuminemia despite treatment with branched-chain amino acid granules containing 12 g of branched-chain amino acid were enrolled in the prospective study. The branched-chain amino acid-enriched nutrient and control groups were composed of 16 and 10 patients, respectively. The patients in branched-chain amino acid-enriched nutrient group switched to branched-chain amino acid-enriched nutrient mixture containing 12.2 g of branched-chain amino acid and 410 kcal with a half of it consumed as a late evening snack, and the patients in the control group continued branched-chain amino acid granules. Laboratory data related to nutrition parameter were assessed at baseline, 3 months after baseline, and at 6 months after baseline. RESULTS: Two patients were withdrawn; hence, nine and 15 patients in the branched-chain amino acid granules and branched-chain amino acid-enriched nutrient groups, respectively, were subjected to full analysis. Serum albumin levels and total lymphocyte counts in both groups did not change in the study period. The branched-chain amino acid-to-tyrosine ratio in the branched-chain amino acid-enriched nutrient group significantly increased from baseline to 6 months after baseline (P = 0.030), whereas that in the control group did not increase. CONCLUSION: Switching from branched-chain amino acid granules to branched-chain amino acid-enriched nutrients improves branched-chain amino acid-to-tyrosine ratio in patients with cirrhosis with hypoalbuminemia.

Nutritional support dependence after curative chemoradiotherapy in head and neck cancer: supplementary analysis of a phase II trial (JCOG0706S1).

OBJECTIVES: To explore the risk factors of laryngo-esophageal dysfunction-free survival and nutritional support dependence over 12 months in patients with unresectable locally advanced head and neck carcinomas who received chemoradiotherapy in a phase II trial of JCOG0706 (UMIN000001272). METHODS: Forty-five patients received radiation therapy for a total of 70 Gy/35fr concurrently with S-1 and cisplatin. Risk factors of laryngo-esophageal dysfunction-free survival and nutritional support dependence over 12 months were analyzed using Cox regression models and logistic regression models, respectively, with consideration to patient laboratory data just before chemoradiotherapy. Radiation fields were reviewed to analyze the relationship between the extent of the irradiated field and functional outcome. RESULTS: With a median follow-up period of 3.5 years, 3-year laryngo-esophageal dysfunction-free survival was 48.9%. For laryngo-esophageal dysfunction-free survival, hazards ratio of 2.35 in patients with nutritional support at registration (vs. without nutritional support; 95% confidence interval 0.96-5.76). For nutritional support dependence over 12 months, odds ratio was 6.77 in patients with hemoglobin less than the median of 13.4 g/dl (vs. higher than or equal to the median; 95% confidence interval 1.24-36.85) and was 6.00 in patients with albumin less than the median of 3.9 g/dl (vs. higher than or equal to the median; 95% confidence interval 1.11-32.54). Primary sites in disease-free patients with nutritional support dependence over 12 months were the oropharynx (N = 2) or hypopharynx (N = 1), and all pharyngeal constrictor muscles were included in irradiated fields with a curative dose. CONCLUSIONS: This supplementary analysis showed that pretreatment severe dysphagia requiring nutritional support, anemia and hypoalbuminemia might have a negative prognostic impact on long-term functional outcomes after curative chemoradiotherapy in head and neck cancer.

Supplementation with branched-chain amino acids ameliorates hypoalbuminemia, prevents sarcopenia, and reduces fat accumulation in the skeletal muscles of patients with liver cirrhosis.

BACKGROUND: Liver cirrhosis induces marked metabolic disorders, protein-energy malnutrition, and sarcopenia. The objective of the study reported here was to investigate the effects of dietary branched-chain amino acids (BCAAs) on systemic glucose metabolism, skeletal muscle, and prognosis of patients with liver cirrhosis. METHODS: Japanese patients with liver cirrhosis (n = 21) were enrolled into a longitudinal study in which their diets were supplemented with BCAAs. We evaluated glucose metabolism and analyzed the skeletal muscle area index (SAI) and intramuscular adipose tissue content (IMAC) using computed tomography. RESULTS: After 48 weeks of supplementation with BCAAs, there were no changes in glucose metabolism and skeletal muscle findings. In patients with ameliorated hypoalbuminemia, IMAC was significantly decreased and SAI was preserved concomitant with decreasing 90- and 120-min post-challenge plasma glucose levels (P < 0.01 each). In patients without increased albumin levels, IMAC was significantly increased and the SAI was significantly decreased (P < 0.01 each). Liver-related event-free survival rates for 72 months were 63.6% in patients with decreased IMAC and 20.0% in patients with increased IMAC. CONCLUSIONS: Amelioration of hypoalbuminemia associated with BCAA supplementation correlated with decreased fat accumulation in skeletal muscle, maintenance of skeletal muscle mass, and improved glucose sensitivity, all factors which may contribute to improving the survival of patients with liver cirrhosis.

Hypoalbuminaemia-a marker of malnutrition and predictor of postoperative complications and mortality after hip fractures.

OBJECTIVE: Our aim was to determine the effect of hypoalbuminaemia as a marker of malnutrition on the 30-day postoperative complication rate and mortality in patients receiving surgical treatment for hip fractures using the American College of Surgeons National Surgical Quality Improvement Program (ACS-NSQIP) database. METHODS: We analyzed all patients admitted with hip fractures receiving surgical treatment from 2011 to 2013. Patients were dichotomized based on their albumin levels; hypoalbuminaemia (albumin <3.5g/dL), and nonhypoalbuminaemia (albumin >3.5g/dL). Patient demographics, postoperative complications, and length of stay were analysed. Logistic regression analysis was conducted to assess the ability of albumin level for predicting postoperative complications, length of stay, and mortality. RESULTS: A total of 10,117 patients with hip fractures were identified with 5414 patients with normal albumin levels, and 4703 with low albumin. Multivariate analysis showed that when controlling for comorbidities; hypoalbuminaemia alone was a predictor of postoperative complications (death, unplanned intubation, being on a ventilator >48h, sepsis, and blood transfusion), and increased length of stay (6.90±7.23 versus 8.44±8.70, CI 0.64-1.20, P<0.001). CONCLUSION: Hypoalbuminaemia alone can predict postoperative outcomes in patients with hip fractures. Furthermore, patients with hypoalbuminaemia had a longer hospital length of stay. Further studies are needed to assess whether nutritional support can improve postoperative complications in patients with hypoalbuminaemia.

Additional BCAA-enriched nutrient mixture improves the nutritional condition in cirrhotic patients with hypoalbuminemia despite treatment with regular BCAA granules: A pilot study.

BACKGROUND/AIMS: To elucidate the effect of adding branched-chain amino acid (BCAA)-enriched nutrient mixtures in cirrhotic patients with hypoalbuminemia despite the use of BCAA granules. MATERIALS AND METHODS: A BCAA-enriched nutrient mixture containing 5.6 g of BCAA and 210 kcal was additionally administered in 40 cirrhotic patients with hypoalbuminemia despite their treatment with BCAA granules containing 12 g of BCAA. Laboratory data were assessed at 6 months before beginning additional therapy, at baseline, and at 6 months after baseline. RESULTS: Serum albumin levels significantly decreased from 6 months before baseline (3.14±0.47 g/dL) to baseline (2.83±0.46 g/dL), despite the treatment with BCAA granules (p<0.001), and tended to increase from baseline to 6 months after baseline (2.95±0.42 g/dL) (p=0.084). In the subset of 23 patients without hepatocellular carcinoma treatments, upper gastrointestinal tract bleeding, or albumin infusion, serum albumin levels significantly increased from baseline (2.93±0.38 g/dL) to 6 months after baseline (3.15±0.34 g/dL) (p=0.014). CONCLUSION: Additional therapy with BCAA-enriched nutrient mixtures increased serum albumin levels of the cirrhotic patients with hypoalbuminemia despite the treatment with BCAA granules and without hepatocellular carcinoma treatment, upper gastrointestinal tract bleeding, or albumin infusion.

Let them eat during dialysis: an overlooked opportunity to improve outcomes in maintenance hemodialysis patients.

In individuals with chronic kidney disease, surrogates of protein-energy wasting, including a relatively low serum albumin and fat or muscle wasting, are by far the strongest death risk factor compared with any other condition. There are data to indicate that hypoalbuminemia responds to nutritional interventions, which may save lives in the long run. Monitored, in-center provision of high-protein meals and/or oral nutritional supplements during hemodialysis is a feasible, inexpensive, and patient-friendly strategy despite concerns such as postprandial hypotension, aspiration risk, infection control and hygiene, dialysis staff burden, diabetes and phosphorus control, and financial constraints. Adjunct pharmacologic therapies can be added, including appetite stimulators (megesterol, ghrelin, and mirtazapine), anabolic hormones (testosterone and growth factors), antimyostatin agents, and antioxidative and anti-inflammatory agents (pentoxiphylline and cytokine modulators), to increase efficiency of intradialytic food and oral supplementation, although adequate evidence is still lacking. If more severe hypoalbuminemia (<3.0 g/dL) not amenable to oral interventions prevails, or if a patient is not capable of enteral interventions (e.g., because of swallowing problems), then parenteral interventions such as intradialytic parenteral nutrition can be considered. Given the fact that meals and supplements during hemodialysis would require only a small fraction of the funds currently used for dialysis patients this is also an economically feasible strategy.

Association between oral nutritional supplementation and clinical outcomes among patients with ESRD.

BACKGROUND AND OBJECTIVES: Oral nutritional supplementation (ONS) was provided to ESRD patients with hypoalbuminemia as part of Fresenius Medical Care Health Plan's (FMCHP) disease management. This study evaluated the association between FMCHP's ONS program and clinical outcomes. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: Analyses included FMCHP patients with ONS indication (n=470) defined as 2-month mean albumin <3.8 g/dl until reaching a 3-month mean ≥3.8 g/dl from February 1, 2006 to December 31, 2008. Patients did not receive ONS if deemed inappropriate or refused. Patients on ONS were compared with patients who were not, despite meeting ONS indication. Patients with ONS indication regardless of use were compared with Medicare patients with similar serum albumin levels from the 2007 Centers for Medicare and Medicaid Services Clinical Performance Measures Project (CPM). Cox models calculated adjusted hospitalization and mortality risks at 1 year. RESULTS: Among patients with indication for ONS, 276 received supplements and 194 did not. ONS use was associated with 0.058 g/dl higher serum albumin overall (P=0.02); this difference decreased by 0.001 g/dl each month (P=0.05) such that the difference was 0.052 g/dl (P=0.04) in month 6 and the difference was no longer significant in month 12 . In analyses based on ONS use, ONS patients had lower hospitalization at 1 year (68.4%; P<0.01) versus patients without ONS (88.7%), but there was no significant reduction in mortality risk (P=0.29). In analyses based on ONS indication, patients with indication had lower mortality at 1 year (16.2%) compared with CPM patients (23.4%; P<0.01). CONCLUSIONS: These findings suggest that ONS use was associated with significantly lower hospitalization rates but had no significant effect on mortality in a disease management setting.

The edematous toddler: a case of pediatric Ménétrier disease.

Ménétrier disease is a protein-losing gastroenteropathy, characterized clinically by nonspecific gastrointestinal symptoms and generalized edema, biochemically by hypoalbuminemia, and pathologically by enlarged gastric folds. Distinct from its adult counterpart, Ménétrier disease of childhood usually remits spontaneously and has a very good prognosis. We present a case report of Ménétrier disease in an edematous toddler and a brief review.

Hypoalbuminemia in drug-free patients with major depressive disorder compared with a dietary matched control group: a clinical meaning beyond malnutrition.

Serum albumin (sALB) is routinely determined in blood tests and is an excellent predictor of risk for many medical illnesses. Hypoalbuminemia has been sporadically reported in patients with psychiatric disorders, such as major depressive disorder and schizophrenia. We compared sALB levels between 19 drug-free patients of major depressive disorder with a control group of matching diets. We conducted this study by controlling the nutrition factor by assessing patient's diets, as well as other possible confounding factors such as sex, age, body mass index (BMI), liver function, and exercise, while focusing on hypoalbuminemia in patients with major depressive disorder. There is no difference in age, gender distribution, and dietary frequency on protein and albumin intake between the patient and control group. The sALB levels of the group with major depressive disorder were significantly reduced (p=0.049). The severity of depression is negatively correlated to the sALB level (r=-0.46, p=0.04). Hypoalbuminemia has clinical meanings on severity of depression and is independent of malnutrition. However, our results can only be seen as very preliminary and should be confirmed by larger studies.