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Epidemiology of metabolic syndrome.
Pflugers Arch
January 2025
Leibniz Institute for Prevention Research and Epidemiology - BIPS, Bremen, Germany.
The global increase of overweight and obesity in children and adults is one of the most prominent public health threats, often accompanied by insulin resistance, hypertension, and dyslipidemia. The simultaneous occurrence of these health problems is referred to as metabolic syndrome. Various criteria have been proposed to define this syndrome, but no general consensus on the specific markers and the respective cut-offs has been achieved yet.
View Article and Find Full Text PDFMaternal and Fetal Complications in Pregnant Women with Neurofibromatosis Type 1: Literature Review and Two Case Reports.
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFDe Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Int J Mol Sci
January 2025
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Via dell'Istria, 65, 34137 Trieste, Italy.
Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.
View Article and Find Full Text PDFNeurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies.
Int J Mol Sci
January 2025
Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder that causes a range of developmental problems including cognitive and behavioral impairment and learning disabilities. FXS is caused by full mutations (FM) of the gene expansions to over 200 repeats, with hypermethylation of the cytosine-guanine-guanine (CGG) tandem repeated region in its promoter, resulting in transcriptional silencing and loss of gene function. Female carriers of FM are typically less impaired than males.
View Article and Find Full Text PDFMidline Anterior Neck Inclusion Cyst in a Pediatric Patient: A Case Report and Literature Review with a Dermatologic Perspective.
Medicina (Kaunas)
January 2025
Dermatology Unit, Ospedale di Circolo Fondazione Macchi, ASST Sette Laghi, 21100 Varese, Italy.
Midline Anterior Neck Inclusion Cysts (MANICs) are rare congenital anomalies caused by improper embryonic fusion. These superficial benign lesions typically appear yellowish and cystic without deeper anatomic connections. We describe an 11-month-old boy with a stable, asymptomatic, yellow, elastic cystic lesion on the midline of the anterior neck, measuring 4 mm and present since shortly after birth.
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