Search results for "Congenital"

Anomalías congénitas cardíacas en la Comunitat Valenciana 2007-2014, el registro poblacional de anomalías congénitas

2020

Resumen: Introducción: Las anomalías congénitas cardíacas (ACC) son el tipo de anomalías congénitas (AC) mayores de más prevalencia y gravedad. El objetivo fue determinar la frecuencia y distribución de las ACC en la Comunitat Valenciana desde 2007 hasta 2014, describiendo las características comunes de los pacientes y sus madres. Material y Métodos: Se seleccionaron del Registro poblacional de AC de la Comunitat Valenciana los pacientes con ACC nacidos vivos, nacidos muertos e interrupciones voluntarias del embarazo entre 2007-2014 (códigos Q20-Q26 de la Clasificación Internacional de Enfermedades 10.ª Revisión, Asociación Pediátrica Británica). Se calculó la prevalencia por 10.000 nacidos…

Consumo de medicamentos en el embarazo y riesgo de anomalías congénitas en la Comunitat Valenciana

2017

Resumen: Antecedentes: El consumo de medicamentos durante el embarazo se ha incrementado en las últimas décadas. Objetivo: Identificar el riesgo de anomalías congénitas (AC) asociado a la utilización de medicamentos en atención ambulatoria en embarazadas residentes en la Comunitat Valenciana. Métodos: Estudio de casos-controles, considerando caso a menores de un año nacidos vivos en 2009-2010 diagnosticados de AC y residentes en la Comunitat Valenciana, obtenidos del registro poblacional de AC. Los controles se seleccionaron del Registro de Metabolopatías y la medicación prescrita y dispensada se obtuvo del módulo Gestión Integral de Prestación Farmacéutica. Se calcularon las odds ratio (OR…

Re-examining the relationship between active cytomegalovirus (CMV) infection and acute graft-versus-host disease in allogeneic stem cell transplant r…

2015

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

2020

Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

2019

Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B mutations. Subjects with only one mutation may show clinical signs and individuals with biallelic changes may remain asymptomatic. We aimed to achieve a conclusive genetic diagnosis for 34 patients clinically diagnosed of WD. Genetic analysis comprised from analysis of exons to WES (whole exome sequencing), including promoter, introns, UTRs (untranslated regions), besides of study of large deletions/duplications by MLPA (multiplex ligation-dependent probe amplification). Biallelic ATP7B mutations were identified in 30 patients, so that four patients were analyzed using WES. Two affected siblings resulted to be compound…

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

2015

Abstract GATA2 deficiency—formerly described as MonoMAC syndrome; dendritic cells, monocytes, B cells, and natural killer cell deficiency; familial myelodysplastic syndrome/acute myeloid leukemia; or Emberger syndrome—encompasses a range of hematologic and nonhematologic anomalies, mainly characterized by monocytopenia, B lymphopenia, natural killer cell cytopenia, neutropenia, immunodeficiency, and a high risk of developing acute myeloid leukemia. Herein, we present 7 patients with GATA2 deficiency recruited into the French Severe Chronic Neutropenia Registry, which enrolls patients with all kinds of congenital neutropenia. We performed extended immunophenotyping of their whole blood lymph…

Achados orais na síndrome de williams-beuren

2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…

Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.

2017

Background Inhibitory antibodies towards enzyme replacement therapy (ERT) are associated with disease progression and poor outcome in affected male patients with lysosomal disorders such as Fabry disease (FD). However, little is known about the impact of immunosuppressive therapy on ERT inhibition in these patients with FD. Methods In this retrospective study, we investigated the effect of long-term immunosuppression on ERT inhibition in male patients with FD (n = 26) receiving immunosuppressive therapy due to kidney (n = 24) or heart (n = 2) transplantation. Results No ERT-naive transplanted patient (n = 8) developed antibodies within follow-up (80 ±72 months) after ERT initiation. Seven (…

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.

2016

Background Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess. Objective and rationale We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. Search methods Peer-reviewed studies evaluating NCAH published up to October 2016 were reviewed. Multiple databases were searched including MEDLINE, EMBASE, Cochrane, ERIC, EBSCO, dissertation abstracts, and current contents. Outcomes The worldwide prevalence of NCAH amongst women presen…

Chronic inflammation: A key role in degeneration of bicuspid aortic valve.

2019

Abstract Introduction Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect resulting from abnormal aortic cusp formation during heart development, where two of the three normal and equal sized cusps fuse into a single large cusp resulting in a two cusps aortic valve. Over the past years, much interest has been given in understanding the pathogenesis of BAV and its complications. In this review, we focused on the role of inflammation, involved in the degeneration of BAV and the development of its complications. Role of inflammation From a pathophysiological point of view, BAV may rapidly progress into aortic stenosis (AS) and is related to aortopathy. Several histo…