Publications by authors named "Ramiro Quiroga"

Article Synopsis
  • Autosomal recessive and X-linked disorders can have serious effects on childhood development and are inherited through specific Mendelian genetics patterns.
  • A group of Spanish genetic and reproductive organizations issued a consensus statement advocating for population-based genetic carrier screening (GCS).
  • They recommend integrating preconception GCS into public healthcare to enhance couples' reproductive choices and inform timely health decisions, addressing various technical, ethical, and legal factors in the process.
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Article Synopsis
  • Genome-wide prenatal cell-free DNA (cfDNA) screening can detect various fetal chromosomal anomalies, including common trisomies and rare autosomal aneuploidies, based on a study of 6,000 pregnant patients in Spain.
  • Out of the patients screened, 3.3% were identified as high-risk, with specific incidences noted for trisomy 21, 18, 13, and other anomalies, leading to effective calculations of positive predictive values (PPVs) for each condition.
  • The study also tracked pregnancy and birth outcomes, revealing that some anomalies were linked to adverse conditions like preeclampsia and preterm birth, highlighting the effectiveness and clinical relevance of cfDNA screening in prenatal care
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Glycosylphosphatidylinositol-anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY, and DMP2 genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the PIGP gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven patients. A detailed medical history was performed in two affected siblings with a multiple malformation syndrome.

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Research Question: Does 3-months of gonadotrophin releasing hormone agonist (GnRHa) treatment before IVF improve clinical pregnancy rate in infertile patients with endometriosis?

Design: Single-blind, placebo-controlled clinical trial of 200 infertile women with endometriosis assigned to use GnRHa (study group) or placebo (control group) for 3 months before IVF. Clinical, embryological outcomes and stimulation parameters were analysed. Clinical pregnancy rate was the primary endpoint.

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Arthrogryposis multiplex congenital is a rare condition defined as contractures in multiple joints at birth due to disorders starting in fetal life. Its etiology is associated with many different conditions and in many instances remains unknown. The final common pathway to all of them is decreased fetal movement (fetal akinesia) due to an abnormal intrauterine environment.

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Background: The ultraconserved elements (UCEs) are defined as stretches of at least 200 base pairs of human DNA that match identically with corresponding regions in the mouse and rat genomes, albeit their real significance remains an intriguing issue. These elements are most often located either overlapping exons in genes involved in RNA processing or in introns or nearby genes involved in the regulation of transcription and development. Interestingly, human UCEs have been reported to be strongly depleted among segmental duplications and benign copy number variants (CNVs).

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Uniparental isodisomy arises when an individual inherits two copies of a specific chromosome from a single parent, which can unmask a recessive mutation or cause a problem of genetic imprinting. Here we describe an exceptional case in which the patient simultaneously presents tyrosinemia type 1 and Angelman syndrome. The genetic studies showed that the patient presents paternal uniparental isodisomy of chromosome 15, with absence of the maternal homolog.

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Purpose: The present study aims to investigate the presence of common submicroscopic chromosomal rearrangements in fetuses with ultrasound abnormalities or positive screening in the first trimester and normal karyotype. We used the multiplex ligation-dependent probe amplification (MLPA) technique with subtelomeric (SALSA P036B) and microdeletion syndrome (SALSA P064B/P096) probe mixes as a screening method to measure copy number changes on the tested probes in chorionic villus sampling. MLPA with P036B and P064/P096 probe mixes was performed on 49 chorionic villi DNA samples obtained between the 11th and 13th week of gestation.

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Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide variability displayed by this duplication in the phenotype. The WBCR microduplication may be associated with autistic spectrum disorder, but most reported cases do not show this behavioral disorder, or may even show a hypersociable personality, as with our patient.

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