Publications by authors named "E Garcia-Arumi"
Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.
Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.
Article Synopsis
- The study investigates 11 previously unreported patients with a neurodevelopmental disorder (NDD) caused by genetic changes in the RNU4-2 gene, highlighting the need for better diagnostic approaches as many NDDs remain undiagnosed.
- The patients, ranging from 13 months to 36 years old, exhibited severe developmental delays, distinct physical features, and other health issues like microcephaly and intrauterine growth retardation.
- The findings enhance the understanding of RNU4-2 syndrome's phenotypic spectrum, emphasizing the importance of thorough clinical evaluations in identifying and characterizing new syndromes in patients with NDDs.
Article Synopsis
- Genetic defects in the TSH receptor can lead to various thyroid issues, such as thyroid dysgenesis or dyshormonogenesis, resulting in a wide range of symptoms from severe congenital hypothyroidism to mild hormonal imbalances.
- A study analyzed 160 pediatric patients with thyroid dyshormonogenesis using high-throughput gene panels and in vitro tests to assess the impact of recognized genetic variants on thyroid function.
- The findings showed that out of the patients studied, 3.13% had significant genetic variants affecting their thyroid health, with different variants exhibiting varying levels of functional impact, underscoring the necessity of genetic testing for accurate diagnosis.
Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and genotype-phenotype correlation in patients with THD and candidate variants in .
View Article and Find Full Text PDF: Non-Invasive prenatal test (NIPT) is used as a universal or contingent test after prior risk assessment. Screening is mainly performed for common trisomies (T21, T13, T18), although other chromosomal anomalies may be detected. Our objective was to study the performance of GWNIPT in the detection of chromosomal abnormalities in pregnancies in which an invasive prenatal study was performed and in early pregnancy losses, in comparison with the reference test.
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