Apoptotic markers in cultured fibroblasts correlate with brain metabolites and regional brain volume in antipsychotic-naive first-episode schizophrenia and healthy controls.

Cultured fibroblasts from first-episode schizophrenia patients (FES) have shown increased susceptibility to apoptosis, which may be related to glutamate dysfunction and progressive neuroanatomical changes. Here we determine whether apoptotic markers obtained from cultured fibroblasts in FES and controls correlate with changes in brain glutamate and N-acetylaspartate (NAA) and regional brain volumes. Eleven antipsychotic-naive FES and seven age- and gender-matched controls underwent 3-Tesla magnetic resonance imaging scanning. Glutamate plus glutamine (Glx) and NAA levels were measured in the anterior cingulate (AC) and the left thalamus (LT). Hallmarks of apoptotic susceptibility (caspase-3-baseline activity, phosphatidylserine externalization and chromatin condensation) were measured in fibroblast cultures obtained from skin biopsies after inducing apoptosis with staurosporine (STS) at doses of 0.25 and 0.5 µM. Apoptotic biomarkers were correlated to brain metabolites and regional brain volume. FES and controls showed a negative correlation in the AC between Glx levels and percentages of cells with condensed chromatin (CC) after both apoptosis inductions (STS 0.5 µM: r = -0.90; P = 0.001; STS 0.25 µM: r = -0.73; P = 0.003), and between NAA and cells with CC (STS 0.5 µM induction r = -0.76; P = 0.002; STS 0.25 µM r = -0.62; P = 0.01). In addition, we found a negative correlation between percentages of cells with CC and regional brain volume in the right supratemporal cortex and post-central region (STS 0.25 and 0.5 µM; P < 0.05 family-wise error corrected (FWEc)). We reveal for the first time that peripheral markers of apoptotic susceptibility may correlate with brain metabolites, Glx and NAA, and regional brain volume in FES and controls, which is consistent with the neuroprogressive theories around the onset of the schizophrenia illness.

[Phenotypic and genetic features in neurofibromatosis type 1 in children]. / Características fenotípicas y genéticas en la neurofibromatosis tipo 1 en edad pediátrica.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease, nevertheless the number of publications providing clinical and genetic data from a significant number of children is limited. MATERIAL AND METHODS: The available clinical, epidemiological, radiological and genetic data from 239 children with NF1, who attended at a specialist NF1 clinic between January 2011 and December 2013 were recorded. RESULTS: All the 239 patients had a clinical and/or genetic diagnosis of NF1. The mean age at diagnosis was 2.65±2.85 years. In our series 99.6% met the diagnostic criteria of café au lait spots, 93.7% those of axillary and inguinal freckling, 7.1% showed typical bone lesion, 38.1% neurofibromas, 23% plexiform neurofibromas, 31.4% optic pathway glioma, Lisch nodules were present in 43.1%, and 28% patients had a first degree relative affected with NF1. The NF1 genetic study was performed in 86 patients, and a description of the gene mutations found in 72 of them is presented. Furthermore, other clinical data previously associated with NF1, either because of their frequency or their severity, are detailed. CONCLUSIONS: The difficulty for clinical diagnosis of NF1 early ages is still evident. Although, the need for further studies in asymptomatic patients is discussed, cranial MRI in children with NF1 may be helpful in the clinical diagnosis, given the high frequency of optic glioma observed in this cohort.

Application and comparison of four selected procedures for the isolation of cell-wall material from the skin of grapes cv. Monastrell.

In order to choose an appropriate cell-wall material (CWM) isolation procedure in grapes cv. Monastrell, four different standard procedures have been tested, and a comparison made of the amount of cell-wall material obtained, its composition and morphology. The CWM was isolated as the 70% ethanol insoluble residue (de Vries method), as the absolute ethanol insoluble residue filtered sequentially through nylon mesh (Nunan method), as the insoluble residue in sodium deoxycholate-phenol-acetic acid-water (Selvendran method) and as the N-[2-hydroxyethyl]-piperazine-N'-2-ethanesulfonic acid (HEPES) insoluble residue (Vidal method). All extractions were done in triplicate and the efficiency of the extractive procedure established. Carbohydrates, proteins, and phenolic compounds were analysed, as the main constituents of CWM. The morphology of the isolated CWM was visualized by scanning electron microscopy (SEM). The Selvendran method had the highest efficiency, while the Nunan method had the lower one. Regarding the carbohydrates composition, the four different CWM were rich in uronic acids and glucose, together with varying amounts of arabinose, xylose, mannose and galactose. The Selvendran method had the lower value of total carbohydrates and the CWM shows more plasmatic membrane impurities in SEM images. The chemical results of the Vidal and de Vries methods were quite similar, but the Vidal method was more time consuming than the de Vries method. According to the results, the de Vries method was chosen to produce a representative cell-wall material fraction from Monastrell grapes skin.

Maturing wines in oak barrels. Effects of origin, volume, and age of the barrel on the wine volatile composition.

The influence of the oak origin, volume, and age of the barrel on the volatile composition of a red wine after six months of maturation have been studied. Major volatile compounds in wine were determined using liquid-liquid extraction with dichloromethane, and those volatiles being due to the oak were determined by extraction with pentane-ether using deuterated analogues as internal standards. The results show that there is little difference between the volatile composition of wines matured in French oak barrels and those matured in American oak barrels. The concentration of cis-oak lactone was the most significant difference. The greatest instrumental and sensory differences were found between new and used barrels, with important decreases in lactones and vanillin concentration in used barrels. When studying the effect of the volume of the barrel, the characteristics of the wine matured in 220-L new barrels versus those matured in 1000-L new barrels were very different. In new barrels, the larger the volume of the barrel, the lower the concentrations of those compounds responsible for the oaky aroma. These differences were less evident when comparing wines matured in used barrels with different capacities.

Color and phenolic compounds of a young red wine. Influence of wine-making techniques, storage temperature, and length of storage time.

The purpose of this work was to determine the influence of vinification technique (maceration temperature and clarification method), storage temperature, and length of storage time on the phenolic compounds and color of young red wines. Multivariate analysis of variance and principal component analysis pointed to significant differences among all of the variables according to vinification technique and length of storage time. Storage temperature did not cause significant differences between some of the variables. The best color characteristics were obtained when low-temperature maceration wines were clarified with polyvinylpyrrolidone. Color quality also improved with lower storage temperature.

[Lipomatous hypertrophy of the interauricular septum as a cause of cerebral embolism in a patient with isolated Wernicke's aphasia]. / Hipertrofia lipomatosa del tabique interauricular como causa de embolismo cerebral en un paciente con afasia de Wernicke aislada.

The clinical observation of a 74 year old male presenting isolated Wernicke's aphasia due to a temporal left infarction of cardiac embolic origin secondary to paroxysmal auricular flutter is described. Transthoracic and transesophageal echocardiography, computerized tomography and magnetic resonance provided characteristic images which permitted the establishment of the diagnosis of lipomatous hypertrophy of the interauricular septum without requiring the use of invasive techniques. Lipomatous hypertrophy of the interauricular septum is a cardiac tumor of unusual presentation constituted of an abnormal accumulation of non-encapsulated fatty tissue which occupies a thickness greater than 15 mm of the interauricular septum. Wernicke's aphasia as a form of presentation of the lipomatous hypertrophy of the interauricular septum has not previously been described in the literature.

Spontaneous bacterial peritonitis due to Salmonella enteritidis in cirrhotic ascites.

Spontaneous bacterial peritonitis due to Salmonella is uncommon. We report three patients with ascites infected by Salmonella. All three patients had advanced chronic liver disease, typically cirrhosis with portal hypertension. Salmonella enteritidis grew in the ascite fluid culture of the three patients. There was no clinical or microbiological evidence of Salmonella infection other than in the ascitic fluid. One patient died before antibiotic treatment was started, but the other two were treated with different combinations of antimicrobial drugs. One of them died on the fourteenth day of hospitalization, and the other survived.

Risk of diarrhea during the first year of life associated with initial and subsequent colonization by specific enteropathogens.

The incidence of colonization by enteropathogenic, enterotoxigenic, enteroinvasive, and enterohemorrhagic Escherichia coli (detected by DNA hybridization with specific radiolabeled probes), Salmonella sp., Shigella sp., Campylobacter jejuni, and rotavirus was related to the presence of diarrhea in a cohort of 75 rural infants followed longitudinally during the first year of life. The study was carried out between August 1985 and February 1987 in the village of Lugar Sobre la Tierra Blanca, in the state of Morelos, 180 km southwest of Mexico City. Intestinal colonization by specific enteropathogens was followed with fecal cultures taken every fortnight and every time a child had diarrhea. Pathogens isolated from cultures taken in the 48 hours prior to the initiation of the diarrheal episode were considered to be associated with the disease. Diarrhea was detected in 82% of the children with initial isolation of enterohemorrhagic E. coli and in 64% of the children with enteropathogenic E. coli or Shigella sp. The risk of diarrhea associated with the initial isolation of other pathogens was lower, at 41% for rotavirus and approximately 25% for enterotoxigenic E. coli, Salmonella sp., and C. jejuni. Initial colonization by the enteropathogens studied, whether or not they were associated with diarrhea, prevented disease, but not colonization by the same organism, when the children were reinfected during the first year of life. Enteropathogenic E. coli adherence factor, human or porcine heat-stable enterotoxins, fimbrial colonization factor antigens, and Shiga-like toxins I and II were important pathogenic characteristics related to the presence of diarrhea and to protection against subsequent infection by the same organisms.