Search results for "sang"

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…

2017

Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …

A retrospective study of the characterization of Rickettsia species in ticks collected from humans

2017

Rickettsiae (family Rickettsiaceae, order Rickettsiales) are obligate intracellular bacteria transmitted by arthropod vectors. Several Rickettsia species causing vector-borne rickettsioses belong to the spotted fever group (SFG). Traditionally, Rickettsia conorii has been considered as the main etiologic agent of Mediterranean spotted fever. However, the molecular characterization of rickettsiae allowed identifying other species involved in spotted fever in the Mediterranean region. In this study, 42 ticks collected from humans were subjected to morphological identification and molecular characterization of Rickettsia species potentially involved in human rickettsiosis in Sicily. Fourteen t…

Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.

2020

Invasive aspergillosis (IA) is a life-threatening infection that affects an increasing number of patients undergoing chemotherapy or allo-transplantation, and recent studies have shown that genetic factors contribute to disease susceptibility. In this two-stage, population-based, case-control study, we evaluated whether 7 potentially functional single nucleotide polymorphisms (SNPs) within the ARNT2 and CX3CR1 genes influence the risk of IA in high-risk hematological patients. We genotyped selected SNPs in a cohort of 500 hematological patients (103 of those had been diagnosed with proven or probable IA), and we evaluated their association with the risk of developing IA. The association of …

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome

2017

Management of Ponatinib in Patients with Chronic Myeloid Leukemia with Cardiovascular Risk Factors

2019

Cardiovascular (CV) adverse events are considered common complications of ponatinib treatment. Recently, it has been demonstrated that ponatinib dose reductions in definite settings can obtain optimal responses and lower ponatinib-related CV events. In this study, we describe the management of 5 patients with chronic myeloid leukemia treated with ponatinib, from second to fourth line of tyrosine kinase inhibitor therapy, carrying high pre-ponatinib CV risk, who obtained optimal molecular response and developed no CV adverse event during follow-up. Among these 5 patients, 2 had diagnosis of ischemic heart disease and underwent percutaneous angioplasty, 2 had type 2 diabetes and arterial hype…

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

2018

Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…

Current concepts in the prevention of pathogen transmission via blood/plasma-derived products for bleeding disorders

2015

The pathogen safety of blood/plasma-derived products has historically been a subject of significant concern to the medical community, Measures such as donor selection and blood screening have contributed to increase the safety of these products, but pathogen transmission does still occur. Reasons for this include lack of sensitivity/specificity of current screening methods, lack of reliable screening tests for some pathogens (e.g. prions) and the fact that many potentially harmful infectious agents are not routinely screened for. Methods for the purification/inactivation of blood/plasma-derived products have been developed in order to further reduce the residual risk, but low concentrations…

Metabolic syndrome triggered by fructose feeding exacerbated laser-induced choroidal neovascularization in the rat

2013

Metabolic syndrome triggered by fructose feeding exacerbated laser-induced choroidal neovascularization in the rat. annual meeting of the association-for-research-in-vision-and-ophthalmology (ARVO)

Valor pronóstico de la resonancia magnética cardiaca tras un infarto agudo de miocardio con elevación del segmento ST

2011

INTRODUCCIÓN Las enfermedades cardiovasculares, y en concreto el infarto agudo de miocardio con elevación de ST (IAMEST) son una importante causa de mortalidad en los países desarrollados. La resonancia magnética cardiaca (RMC) es una técnica cada vez más usada tras un IAMEST, permite un análisis simultáneo y fiable de varios índices cardiacos, que han demostrado valor para predecir la recuperación de la función sistólica. No obstante, los datos sobre su valor pronóstico son escasos y no hay estudios que realicen un análisis exhaustivo de todos los índices. Esta información es imprescindible para que la RMC se incorpore definitivamente a nuestra práctica clínica habitual. OBJETIVOS - Valora…

El organismo instrumento solidario: La hemodonación. Ontinyent un caso estudio

2015

Para llevar a cabo esta investigación sobre el fenómeno de la hemodonación en Ontinyent, hemos utilizado una metodología de base cualitativa, apoyándonos en la Teoría de la Acción Planificada y el ensayo sobre el Don. Nuestro estudio empleó la impregnación y la observación discrecional como herramientas de trabajo en el día a día, así como las entrevistas semiestructuradas a donantes y las entrevistas a informadores clave. Definimos cuatro tipologías de donante al combinar los motivos Prosociales y Morales, con el modo de entender la donación, Colectivo, e Individual (Prosocial-Colectivo, Prosocial-Individual, Moral-Colectivo, y Moral-Individual), a las que añadimos los atributos de edad, g…