Our results suggest that the retinal consequences of albinism caused by changes in melanin synthetic machinery may be treated by L-DOPA supplementation.”
“Monoclonal ONO-7706 gammopathy of undetermined significance (MGUS) and monoclonal

B lymphocytosis (MBL) are asymptomatic premalignant conditions which can progress to a symptomatic disease state requiring therapy. Considering the high prevalence rate of these disorders, precursor patients are often diagnosed during routine clinical examinations. Only a minor portion of cases progress to overt malignancies, which raises the question of how to identify patients with the probability of progression. In recent years improvements in the understanding of the pathogenesis of both disorders led to the development of risk models and the estimation of the individual risk of progression. The definition of high-risk and low-risk patients allows

a tailored clinical management. This report provides information on the biology, risk stratification, diagnosis, and follow-up of patients with MGUS and MBL.”
“Background: Epidemiologic studies have been inconclusive regarding the impact of coexposure to long chain polyunsaturated fatty acids LBH589 molecular weight (LCPUFA) and methylmercury (MeHg) from fish consumption during pregnancy on measures of fetal development.\n\nObjectives: We evaluated the association between birth weight and prenatal maternal LCPUFA status and MeHg exposure in the Republic of Seychelles.\n\nMethods: We measured LCPUFA in maternal whole blood collected at 28 weeks of gestation and following delivery and MeHg in maternal hair obtained at delivery. There were 230 births with complete data on birth weight and covariates. Multiple linear regression models controlled for infant sex, gestational age, maternal age, smoking during pregnancy, intrapartum weight gain, prepregnancy body mass index, maternal socioeconomic status, parity, gestational diabetes, and alcohol use during pregnancy.\n\nResults: The average AZD1208 manufacturer birth weight was 3252 g (range 1654-4450) and the average gestational

age was 39 weeks (range 34-41). Prenatal MeHg exposure and maternal LCPUFA status were not associated with birth weight. Infant sex and length of gestation were the only predictors, with male sex and increased gestational age consistently associated with greater birth weight.\n\nConclusions: These findings do not support a relationship between prenatal exposure to LCPUFA and/or MeHg from fish consumption and birth weight. (C) 2014 Elsevier Inc. All rights reserved.”
“Objective To expose causes leading to the delayed arrival of phenylketonuria (PKU) patients at a governmental reference centre (RC), and to describe their clinical characteristics.\n\nMaterial and methods PKU files registered during the past 18 years at the National Institute of Pediatrics in Mexico City were evaluated.