Publications by authors named "Carmen Orellana Alonso"
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
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.
View Article and Find Full Text PDFFamilial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking.
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