There have been various reports in the medical literature concerning children with syndromes of congenital hypoparathyroidism, seizures, dysmorphic features and mental retardation. We describe a patient with hypoparathyroidism, mental retardation, micrognathia, deep-set eyes and pes cavus in a 31-year-old man. This combination of abnormalities in an adult is unique.
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Rev Paul Pediatr
January 2025
Universidade Federal do Paraná, Curitiba, PR, Brazil.
Objective: To investigate the presence of metabolic dysfunction-associated fatty liver disease (MAFLD) and gallbladder abnormalities in a sample of people with Down syndrome in Brazil.
Methods: This is a retrospective study using medical charts involving Down syndrome patients, diagnosed by karyotype, aged over 5 years, who underwent abdominal ultrasound and were monitored by the same professional in a clinic in Curitiba, Brazil. Data spanned January 1995 to September 2023; all cases with no use of alcohol or hepatotoxic medications.
Down syndrome, resulting from trisomy of human chromosome 21, is a common form of chromosomal disorder that results in intellectual disability and altered risk of several medical conditions. Individuals with Down syndrome have a greatly increased risk of Alzheimer's disease (DSAD), due to the presence of the APP gene on chromosome 21 that encodes the amyloid-β precursor protein (APP). APP can be processed to generate amyloid-β, which accumulates in plaques in the brains of people who have Alzheimer's disease and is the upstream trigger of disease.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Background: Male infertility (MI) is a polygenic condition mainly induced by spermatogenic failure/arrest or systemic disease with a large clinical spectrum. Lately, genetic sequencing allowed the identification of several variants implicated in both aforesaid situations.
Methods And Results: In this case study, we performed whole exome sequencing (WES) on the genomic DNA of a 37-year-old Moroccan man with Non-Obstructive Azoospermia.
J Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFAnn Med
December 2025
Health Research and Innovatioin Science Centre, Klaipeda University, Klaipeda, Lithuania.
Background: Handgrip strength (HGS) serves as a robust predictor of overall strength across various populations, including individuals with Down Syndrome (DS).
Objective: To analyze the HGS measurement protocols used in studies involving individuals with DS.
Methods: Primary sources were sourced from six databases: PubMed, Scopus, Ovid, Embase, ERIC, and Web of Science, spanning from inception to 23rd December 2023.
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