27 documents found, page 1 of 3

Cardiovascular Compromise in Children with Neuromuscular Disease with Respirato...

Abstract Introduction: Neuromuscular diseases can be followed by cardiomyopathy and/or arrhythmias that have prognostic consequences. Although respiratory failure is the most frequent cause of death in this group of patients, heart disease is independent of ventilatory compromise and should be investigated. We aimed to investigate the cardiovascular follow-up and diagnosis of a population of patients with neuro...

Generation and characterization of a human iPS cell line from a patient-related...

A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited...

A Cardiologia Pediátrica e a Pediatria: Uma Dinâmica na Base de Centros de Refe...

Generation of human iPSC line from a patient with laterality defects and associ...

A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable kary...

IL-7-induced proliferation of human naive CD4 T-cells relies on continued thymi...

Naive CD4 T-cell maintenance is critical for immune competence. We investigated here the fine-tuning of homeostatic mechanisms of the naive compartment to counteract the loss of de novo CD4 T-cell generation. Adults thymectomized in early childhood during corrective cardiac surgery were grouped based on presence or absence of thymopoiesis and compared with age-matched controls. We found that the preservation of...

Congenital Heart Disease in Children with Down Syndrome: What Has Changed in th...

Introduction: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease.Material and Methods: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery.Objective: to assess the progress in the last three dec...

Congenital heart disease in children with Down Syndrome: what has changed in th...

INTRODUCTION: The prevalence of Down syndrome has increased in the last 30 years; 55% of these children have congenital heart disease.MATERIAL AND METHODS: A retrospective longitudinal cohort study; clinical data from 1982 to 2013 databases with the diagnosis of Down syndrome or trisomy 21 in a reference hospital in pediatric cardiology and cardiac surgery.OBJECTIVE: to assess the progress in the last three dec...

Rabdomiomatose cardíaca disseminada em recém-nascido assintomático

Os autores apresentam o caso clínico de um recém-nascido assintomático com diagnóstico pré-natal de rabdomiomatose cardíaca disseminada.

Agenesia do Ramo Esquerdo da Artéria Pulmonar

A unique phenotype in a patient with a rare triplication of the 22q11.2 region ...

Background: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deletion, also known as DiGeorge/Velocardiofacial syndrome, has common features that include cardiac abnormalities, thym...