Clinico‐genetic aspects of a pediatric non‐neurofibromatosis type 1 malignant triton tumor with loss of chromosome X

Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6‐year‐old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,‐X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor. Pediatr Blood Cancer 2012; 59: 1320–1323. © 2012 Wiley Periodicals, Inc.     

Vitamin A Deficiency in Pregnancy: Perspectives after Bariatric Surgery

This study aims to describe the clinical consequences of vitamin A deficiency (VAD) in pregnant women after bariatric surgery. Included are studies on VAD during pregnancy and after bariatric surgery conducted in humans from 1993 to 2011. There are few investigations on the relationship between pregnancy and bariatric surgery and on the damage to the binomial mother–child resulting from VAD in this relationship. The high percentage of VAD in the postoperative period is a cause for concern, especially considering the function of this vitamin in certain biological moments and in moments of intense nutritional demand. This vitamin serum evaluation is recommended during the prenatal period.     

Increased BDNF Levels in Long-term Bipolar Disorder Patients

IntroductionBipolar disorder (BD) is a prevalent, chronic and progressive illness. There is a growing body of evidence indicating that brain-derived neurotrophic factor (BDNF) plays an important role in the pathophysiology of BD.ObjectiveThe aim of this study was to evaluate BDNF plasma levels in BD patients with long term illness in comparison with controls.Methods87 BD type I patients and 58 controls matched by age, gender and education level were enrolled in this study. All subjects were assessed by the Mini-International Neuropsychiatric Interview and the patients by the Young Mania Rating Scale and the Hamilton Depression Rating Scale. The plasma levels of BDNF were measured by ELISA.ResultsOn average, patients had suffered from BD for 23.4 years. In comparison with controls, BD patients with mania presented a 1.90-fold increase in BDNF plasma levels (p = .001), while BD patients in remission presented a 1.64-fold increase in BDNF plasma levels (p = .03). BDNF plasma levels were not influenced by age, length of illness or current medications.ConclusionsThe present study suggests that long-term BD patients exhibit increased circulating levels of BDNF.     

A Comparison of the Effects of Oral Glutamine Dipeptide,Glutamine, and Alanine on Blood Amino Acid Availability in Rats Submitted to Insulin-Induced Hypoglycemia

We compared the effects of oral administration of high-dose or low-dose glutamine dipeptide (GDP), alanine (ALA), glutamine (GLN), and ALA + GLN on the blood availability of amino acids in rats submitted to insulin-induced hypoglycemia (IIH). Insulin detemir (1 U/kg) was intraperitoneally injected to produce IIH; this was followed by oral administration of GDP, GLN + ALA, GLN, or ALA. We observed higher blood levels of GLN, 30 min after oral administration of high-dose GDP (1000 mg/kg) than after administration of ALA (381 mg/kg) + GLN (619 mg/kg), GLN (619 mg/kg), or ALA (381 mg/kg). However, we did not observe the same differences after oral administration of low-dose GDP (100 mg/kg) compared with ALA (38.1 mg/kg) + GLN (61.9 mg/kg), GLN (61.9 mg/kg), or ALA (38.1 mg/kg). We also observed less liver catabolism of GDP compared to ALA and GLN. In conclusion, high-dose GDP promoted higher blood levels of GLN than oral ALA + GLN, GLN, or ALA. Moreover, the lower levels of liver catabolism of GDP, compared to ALA or GLN, contributed to the superior performance of high-dose GDP in terms of blood availability of GLN.     

Vital Exhaustion and Markers of Low‐Grade Inflammation in Healthy Adults: The Amsterdam Growth and Health Longitudinal Study

This study analyses distinct trajectories of vital exhaustion (VE; a measure of mental health incorporating signs of stress and depression) over a period of 15 years in healthy adults and investigates further the consequences for markers of low‐grade inflammation as indicators of cardiovascular disease risk. Data of 341 participants of the Amsterdam Growth and Health Longitudinal Study were utilized. VE was measured by the Maastricht Questionnaire. Markers of low‐grade inflammation included interleukin‐6, interleukin‐8 and tumour necrosis factor‐α. Distinct trajectories of VE were obtained by latent class growth models, and consequences for markers of low‐grade inflammation of the trajectories were analysed by linear regressions. We found comparable trajectories of VE for men and women; a ‘never vitally exhausted’ subgroup (16.9% and 25.1%, respectively), a ‘stable preclinical VE’ subgroup (51.7% and 68.1%) and a ‘chronic VE state’ subgroup (31.5% and 6.7%). The subgroups had similar levels of the markers investigated. This study is the first to analyse VE longitudinally in healthy adults and indicates that although distinct trajectories of VE were identified, differential consequences for cardiovascular disease risk were unapparent. Copyright © 2013 John Wiley & Sons, Ltd.