Notes

Genes and also epigenetics involving keloids.
optimal clinical management strategies. © AlphaMed Press 2020.in English, Spanish OBJETIVO La Anorexia Nerviosa (AN) está asociada con características neuropsicológicas como alteraciones en la coherencia central, flexibilidad cognitiva, y reconocimiento de emociones. Las mismas características también se manifiestan en los trastornos del espectro autista (TEA), y se ha sugerido que se asocian con una prolongación de la enfermedad de la AN. El propósito de este meta-análisis fue examinar si las características neuropsicológicas pronunciadas relacionadas al TEA están asociadas con la duración de la enfermedad en la AN. https://www.selleckchem.com/products/VX-702.html MÉTODOS Se investigó en cuatro bases de datos (Medline, PsycINFO, Scopus, PubMed) para encontrar estudios elegibles. Los términos de búsqueda fueron 1) “anorexia nerviosa”, y 2) “flexibilidad cognitiva” o “cambio de un tipo de información a otro (set shifting)” o “coherencia central” o “reconocimiento de emociones” o “teoría de la mente”. La muestra final consistió en 53 estudios. La duración de la AN fue dividida en tres categorías para poder investigar las diferencias entre los grupos con una duración variable de la enfermedad. El meta-análisis fue realizado con Review Manager utilizando un modelo de efecto aleatorio. RESULTADOS Los déficits en la coherencia central, flexibilidad cognitiva, y el reconocimiento de emociones fueron más pronunciados en los individuos con AN prolongada en comparación con aquellos con una menor duración de la enfermedad. DISCUSIÓN Un curso prolongado de AN parece estar asociado con características neuropsicológicas subyacentes que también son distintivas de los TEA. Las alteraciones neuropsicológicas pueden llevar a una AN prolongada y la enfermedad prolongada puede contribuir al posterior “efecto de cicatriz neurológica”, reforzando aún más estas alteraciones.Lymphogranuloma venereum (LGV) is a sexually transmitted infection (STI) caused by Chlamydia trachomatis (CT) serovars L1-L3 1 . In Europe, it is endemic among men who have sex with men (MSM) causing proctitis, mainly co-infected with HIV, since 2003 2 . Its presentation as a genital lesion has been rarely described and accounts for around 5% of cases in the United Kingdom and France 3,4 . Increasing STIs rates in MSM have been reported during the last decade in several Western countries 5 , and it is plausible that HIV pre-exposure prophylaxis (PrEP) might contribute to maintaining this trend 6 . We report 2 cases with genital primary LGV mimicking primary syphilis seen at in our clinic in Barcelona. This article is protected by copyright. All rights reserved.BACKGROUND Alpha1-antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk to develop lung and liver diseases at an early age. AAT is encoded by the highly polymorphic SERPINA1 gene. The most common deficiency alleles are S and Z, but more than 150 rare variants lead to low levels of the protein. To identify these pathological allelic variants, sequencing is required. Since traditional sequencing is expensive and time-consuming, we evaluated the accuracy of A1AT Genotyping Test, a new diagnostic genotyping kit which allows to simultaneously identify and genotype 14 deficiency variants of the SERPINA1 gene based on Luminex technology. METHODS A total of 418 consecutive samples with AATD suspicion and submitted to the Italian Reference laboratory between January and April 2016 were analyzed both by applying the diagnostic algorithm currently in use, and by applying A1AT Genotyping Test. RESULTS The assay gave the following results 101 samples (24.2%) were positive for at least one of the 14 deficiency variants, 316 (75.6%) were negative for all the variants analyzed. The identified mutations showed a 100% correlation with the results obtained with our diagnostic algorithm. Seventeen samples (4%) resulted negative for the assay but sequencing identified other rare pathological variants in SERPINA1 gene. CONCLUSION The A1AT Genotyping Test assay was highly reliable and robust and allowed shorter diagnostic times. In few cases, it has been necessary to sequence the SERPINA1 gene to identify other rare mutations not included in the kit. © 2020 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.Facile synthesis of various benzonaphthofurans was achieved by intramolecular hydroarylation of 1,4-disilyl-2-aryloxy-1,3-enynes followed by cycloaddition with arynes or alkenes and finally desilylaromatization. The three-step transformation can be operated sequentially in one-pot, providing with a range of furanoacenes easily and highly effectively. © 2020 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.Elevated expression of Copine 1 (CPNE1) has been observed in multiple cancers; however, the underlying mechanisms by which it affects cancer cells are unclear. We aimed to study the effect of CPNE1 on the tumorigenesis and radioresistance of triple-negative breast cancer (TNBC). Quantitative real-time polymerase chain reaction was used to detect the expression of CPNE1 in TNBC tissues and cell lines. Western blot, immunohistochemistry, and immunofluorescence were used to investigate the levels of CPNE1, p-AKT, AKT, cleaved caspase-3, cleaved PARP1, and γ-H2AX. Cell viability and apoptosis were measured by CCK-8 and flow cytometry, respectively. CPNE1 was overexpressed in TNBC tissues and cell lines and was associated with tumor size, distant metastases, and survival rates of patients with TNBC. Moreover, function study shows that CPNE1 promoted cell viability and inhibited cell apoptosis in vitro and inhibited the radiosensitivity of TNBC. Importantly, inactivation of AKT signaling inhibited the tumorigenesis and radioresistance mediated by CPNE1 in TNBC cells. In vivo xenograft study also shows that CPNE1 knockdown inhibited tumor growth and promoted cell apoptosis. Overall, our findings suggest that CPNE1 promotes tumorigenesis and radioresistance in TNBC by regulating AKT activation and targeted CPNE1 expression may be a strategy to sensitize TNBC cells toward radiation therapy. © 2020 Wiley Periodicals, Inc.
Read More: https://www.selleckchem.com/products/VX-702.html