Gludgraversen2048

In sum, the patients' clinical presentation, assessments of previously identified GARS1 variants and functional assays in yeast suggest that the GARS1 variants described here cause iSMA. GARS1 variants have been previously associated with Charcot-Marie-Tooth disease (CMT2D) and distal SMA type V (dSMAV). Entospletinib cell line Our findings expand the allelic heterogeneity of GARS-associated disease and support that severe early-onset SMA can be caused by variants in this gene. Distinguishing the SMA phenotype caused by SMN1 variants from that due to pathogenic variants in other genes such as GARS1 significantly alters approaches to treatment. © 2020 Wiley Periodicals, Inc.in English, Spanish ANTECEDENTES La embolización de la vena porta (portal vein embolization, PVE) se realiza para reducir el riesgo de insuficiencia hepática y de mortalidad asociada después de una resección hepática mayor. Aunque con la gammagrafía hepato-biliar (hepato-biliary scintigraphy, HBS) se ha utilizado un punto de corte de 2,7%/min/m2 para la función hepática remanente futura (future remnant liver function, FRLF), los pacientes con colangiocarcinoma perihilar (perihilar cholangiocarcinoma, PHC) se beneficiarían potencialmente de un punto de corte adicional de 8,5%/min (no corregido para el área de superficie corporal). Desde enero de 2016, se adoptó un enfoque más liberal para la PVE, incluyendo este punto de corte adicional para la HBS de 8,5%/min. El objetivo de este estudio fue evaluar el efecto de este enfoque sobre la insuficiencia hepática y la mortalidad. MÉTODOS Se trata de un estudio retrospectivo de un solo centro, en el que los pacientes consecutivos sometidos a resección hepática por soe papel en el descenso de los resultados adversos después de la cirugía para el PHC.In this paper, we explore how two discrete and geographically separated populations of the lesser long-nosed bat (Leptonycteris yerbabuenae)-one in central and the other in the Pacific region of Mexico-differ in their fecal microbiota composition. Considering the microbiota-host as a unity, in which extrinsic (as food availability and geography) or intrinsic factors (as physiology) play an important role in the microbiota composition, we would expect differentiation in the microbiota of two geographically separated populations. The Amplicon Sequences Variants (ASVs) of the V4 region of the 16s rRNA gene from 68 individuals were analyzed using alpha and beta diversity metrics. We obtained a total of 11 566 (ASVs). The bacterial communities in the Central and Pacific populations had a diversity of 6,939 and 4,088 ASVs, respectively, sharing a core microbiota of 539 ASVs accounting for 75% of the relative abundance, suggesting stability over evolutionary time. The Weighted UniFrac metrics tested by a PERMANOVA showed that lactating and pregnant females had significant beta diversity differences in the two populations compared with other reproductive stages. This could be a consequence of the increased energy requirements of these physiological stages, more than the variation due to geographical separation. In contrast, a positive correlation of the observed ASVs of fecal microbiota with the observed ASVs of plastids related to the diet was observed in the juveniles and adults, suggesting that in these physiological stages an extrinsic factor as the diet shapes the microbiota composition. The results provide a baseline for future studies of the microbiome in these two wild populations of the lesser long-nosed bat, the main pollinator of the Agaves from which the beverages tequila and mezcal are made. © 2020 The Authors. MicrobiologyOpen published by John Wiley & Sons Ltd.BACKGROUND The periorbital region is among the first areas to be affected by the process of aging, which is influenced by genetic and constitutional factors. As the region plays an important role in overall facial appearance, rejuvenation of the area has immense cosmetic benefit and various treatment modalities have been used to achieve the same. AIMS This article reviews commonly used non-surgical and minimally invasive modalities for periorbital rejuvenation. METHODS The literature research considered published journal articles (clinical trials or scientific reviews). Studies were identified by searching electronic databases (MEDLINE and PubMed) and reference lists of respective articles. Only articles available in English were considered for this review. RESULTS Autologous platelet rich plasma (PRP) is increasingly used in dermatology for skin and hair conditions. The use of PRP is rapidly growing in popularity as a modality to achieve skin rejuvenation. The mechanism by which PRP leads to skin rejuvenation is by increasing the dermal fibroblast proliferation, expression of matrix metalloproteinase and collagen synthesis. CONCLUSION The evidence discussed in this article indicates the increasing importance of minimally invasive modalities in periorbital rejuvenation and a promising role for PRP as solo therapy or in multimodality regimens. © 2020 Wiley Periodicals, Inc.in English, Spanish ANTECEDENTES La reconstrucción mamaria inmediata con prótesis (implant-based breast reconstruction, IBBR) es el procedimiento reconstructivo más utilizado en el Reino Unido, pero casi una de cada diez mujeres presentará pérdida de la prótesis y fallo del procedimiento reconstructivo tras esta técnica. Se sabe poco de cómo la pérdida de la prótesis afecta la calidad de vida de las pacientes. La primera fase del estudio LiBRA tuvo como objetivo explorar la percepción de las mujeres ante la pérdida de la prótesis, utilizando métodos cualitativos, y proponer una serie de medidas para mejorar la atención sanitaria de estas pacientes. MÉTODOS Se realizaron entrevistas semiestructuradas en una muestra de mujeres que padecieron la pérdida de la prótesis tras una IBBR inmediata, realizada por neoplasia o como procedimiento de reducción de riesgo, en seis centros. Las entrevistas analizaron la toma de decisiones con respecto a la IBBR inmediata, así como la percepción ante la pérdida del implante y has mujeres. Una mejor información y apoyo preoperatorios, junto con una atención holística centrada en la paciente cuando se presentan las complicaciones, podrían mejorar significativamente la experiencia y el resultado de la atención.