Clinical practice: Protein-losing enteropathy in children

Protein-losing enteropathy (PLE) is a rare complication of a variety of intestinal disorders characterized by an excessive loss of proteins into the gastrointestinal tract due to impaired integrity of the mucosa. The clinical presentation of patients with PLE is highly variable, depending upon the underlying cause, but mainly consists of edema due to hypoproteinemia. While considering PLE, other causes of hypoproteinemia such as malnutrition, impaired synthesis, or protein loss through other organs like the kidney, liver, or skin, have to be excluded. The disorders causing PLE can be divided into those due to protein loss from intestinal lymphatics, like primary intestinal lymphangiectasia or congenital heart disease and those with protein loss due to an inflamed or abnormal mucosal surface. The diagnosis is confirmed by increased fecal concentrations of alpha-1-antitrypsin. After PLE is diagnosed, the underlying cause should be identified by stool cultures, serologic evaluation, cardiac screening, or radiographic imaging. Treatment of PLE consists of nutrition state maintenance by using a high protein diet with supplement of fat-soluble vitamins. In patients with lymphangiectasia, a low fat with medium chain triglycerides (MCT) diet should be prescribed. Besides dietary adjustments, appropriate treatment for the underlying etiology is necessary and supportive care to avoid complications of edema. PLE is a rare complication of various diseases, mostly gastrointestinal or cardiac conditions that result into loss of proteins in the gastrointestinal tract. Prognosis depends upon the severity and treatment options of the underlying disease

Initial evidence for sex-specific effects of early emotional abuse on affective processing in bipolar disorder

Purpose: This study investigates the effect of sex and childhood trauma on affective processing in bipolar disorder (BPD) patients. Methods: In a sample of fifty-six BPD patients, we administered the Childhood Trauma Questionnaire (CTQ), and the Iowa Gambling Task (IGT) and the Affective Go/No-Go (AGNG) to measure affective processing. Analysis of Variance (ANOVA) was used to evaluate the effect of sex and childhood trauma on IGT; Repeated-Measures ANOVAs to measure accuracy and bias measures across conditions on the AGNG. Results: In the context of childhood abuse, females evidenced a more conservative cognitive style than males by selecting fewer cards from the disadvantageous decks [F(1, 49) = 14.218; P \u3c 0.001] and showed an improvement throughout the task, as noted in a normal learning curve [F(1.49) = 4.385; P = 0.041)]. For the AGNG, an interaction specific to the negative valence stimuli on response bias measures was found. Abused females scored higher (mean = 8.38; SD = 6.39) than abused males (mean = 0.69; SD = 1.19) [F(1.46) = 6.348; P = 0.015]. Conclusion: Severity of childhood trauma was significantly different between sexes. In the context of a history of emotional abuse, male bipolar patients tended toward a more risk-taking behavior compared to female. Further investigations are needed to elucidate potential pathophysiological mechanisms underlying this interaction. (C) 2013 Elsevier Masson SAS. All rights reserved

Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been described in four probands with Barth syndrome. We have now evaluated 14 Barth syndrome pedigrees for mutations in G4.5 and have identified unique mutations in all, including four splice-site mutations, three deletions, one insertion, five missense mutations, and one nonsense mutation. Nine of the 14 mutations are predicted to significantly disrupt the protein products of G4.5. The occurrence of missense mutations in exons 3 and 8 suggests that these exons encode essential portions of the G4. 5 proteins, whose functions remain unknown. We found no correlation between the location or type of mutation and any of the clinical or laboratory abnormalities of Barth syndrome, which suggests that additional factors modify the expression of the Barth phenotype. The characterization of mutations of the G4.5 gene will be useful for carrier detection, genetic counseling, and the identification of patients with Barth syndrome who do not manifest all of the cardinal features of this disorder