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Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome).
Turk J Ophthalmol
January 2025
İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Ophthalmology, İstanbul, Türkiye.
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born with JS. Most patients with JS have respiratory distress due to inadequate lung development and many lose their lives due to respiratory failure.
View Article and Find Full Text PDFTranscriptome analysis of muscle atrophy in Leizhou black goats: identification of key genes and insights into limb-girdle muscular dystrophy.
BMC Genomics
January 2025
Zhanjiang Experimental Station, Chinese Academy of Tropical Agricultural Sciences, Zhanjiang, 524013, China.
Background: The Leizhou Black Goat (LZBG), a prominent breed in tropical China's meat goat industry, frequently exhibits inherent muscle atrophy and malnutrition-related traits. Particularly, muscles critical for support, such as the legs, often display severe symptoms. This study aimed to investigate the differential genes and signaling pathways influencing muscle development and atrophy across various muscle locations in LZBG from a muscular atrophy-affected family.
View Article and Find Full Text PDFBone measurements interact with phenotypic measures in canine Duchenne muscular dystrophy.
Front Vet Sci
January 2025
Department of Veterinary Integrative Biosciences, Texas A&M University, College Station, TX, United States.
Duchenne muscular dystrophy (DMD) is an X-linked muscle disease with weakness, loss of ambulation, and premature death. DMD patients have reduced bone health, including decreased femur length (FL), density, and fractures. The mouse model has paradoxically greater FL, density, and strength, positively correlating with muscle mass.
View Article and Find Full Text PDFSomatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.
Nat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFPain Management in Pediatrics: What the IR has to Offer.
Cardiovasc Intervent Radiol
January 2025
Clínical Area of Medical Imaging and Biomedical Imaging Research Group (GIBI230), Hospital Universitario y Politécnico La Fe - Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Pediatric pain management presents unique challenges due to the intrinsic characteristics of children such as their developmental stages, communication barriers, and varying pain perceptions. Life-limiting conditions affecting children are a growing medical concern, requiring a comprehensive, multidisciplinary approach to improve quality of life or ensure a dignified end of life. Interventional radiology (IR) plays a critical role in this strategy, similar to its role in adult care.
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