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Fetal Tetra-Amelia Birth: A Case Report.
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Department of Obstetrics and Gynecology, Jimma University School of Medicine, Jimma, Ethiopia.
Fetal limb anomaly presentation varies greatly. It can present as amelia (complete absence of skeletal part of one or more limb), meromelia (partial absence of skeletal part of one or more limb), phocomelia (only rudimentary limb formed), and minor limb disorders like polydactyly. The complete absence of the four fetal limbs is extremely rare.
View Article and Find Full Text PDFEffectiveness of implementation of sickle cell disease referral guidelines and other measures in paediatric department at a tertiary hospital in Saudi Arabia.
BMJ Open Qual
January 2025
Pediatric Hematology Oncology, Al Hada Armed Forces Hospital, Taif, Makkah, Saudi Arabia.
Background: Sickle cell disease (SCD) is an autosomal recessive genetic blood disorder. It affects up to 2.6% of the Kingdom of Saudi Arabia population.
View Article and Find Full Text PDFRespiratory insufficiency as a rare presentation in a child with vitamin D-dependent rickets type 1.
BMJ Case Rep
January 2025
Pediatrics, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College, Mumbai, Maharashtra, India.
Rickets in children usually present with skeletal manifestations. However, they can also rarely present with extraskeletal manifestations, one of them being respiratory insufficiency. We present an unusual case of a girl in early childhood with respiratory insufficiency, which turned out to be due to the underlying vitamin D-dependent rickets (VDDR).
View Article and Find Full Text PDFModeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS.
Neurobiol Dis
January 2025
Department Neurobiology and Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy. Electronic address:
Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate the phenotypic and neuronal features observed in patients, no retinal phenotype has been described so far. In a zebrafish knock-out strain that faithfully mirrors the main aspects of ARSACS, we observed impaired visual function due to photoreceptor degeneration, likely caused by cell cycle defects in progenitor cells.
View Article and Find Full Text PDFIdentification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.
Genes Genomics
January 2025
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.
Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.
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