Publications by authors named "B Perez-Gonzalez"
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
View Article and Find Full Text PDFInsulinomas are rare neuroendocrine tumors arising from pancreatic β cells, characterized by aberrant proliferation and altered insulin secretion, leading to glucose homeostasis failure. With the aim of uncovering the role of noncoding regulatory regions and their aberrations in the development of these tumors, we coupled epigenetic and transcriptome profiling with whole-genome sequencing. As a result, we unraveled somatic mutations associated with changes in regulatory functions.
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- * A total of 99 adult IIM patients were assessed for various autoantibodies, revealing that 70.7% tested positive for at least one antibody related to CD, while duodenal biopsy confirmed CD in 2% of cases.
- * The study found that specific antibodies (e.g., anti-MDA5 and anti-Mi2) were significantly associated with positive CD serology, highlighting the importance of recognizing IIM patients as a high-risk group for
Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the gene. We report the case of a 49-year-old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra-skeletal manifestations that could develop in later stages of life.
View Article and Find Full Text PDFObjectives: We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.
Methods: Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS.