Results 171 to 180 of about 2,652,693 (300)

Giovanni Antonio Scopoli's De Hydrargyro Idriensi Tentamina (1761): Mercury Mining, Mercurialism, and Preventive Reasoning in Eighteenth‐Century Occupational Medicine

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Giovanni Antonio Scopoli (1723–1788), a physician‐naturalist of the Enlightenment, is primarily remembered for his contributions to botany and entomology. Less attention has been paid to his medical work De hydrargyro Idriensi Tentamina physico‐chymico‐medica (1761), written during his fifteen years of service as physician at the mercury mines
Alberto Zanatta   +3 more
wiley   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh   +5 more
wiley   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia   +6 more
wiley   +1 more source

First Experience of Thoracic Surgery with the da VinciTM Surgical System in Korea

open access: yes, 2006
Video-assisted thoracoscopic surgery has gained a broad acceptance for various thoracic lesions because it is the minimally invasive surgery with little tissue trauma, less pain, improved cosmetic results and short recovery time.
박인규, 김대준, 정경영
core  

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness   +11 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad   +7 more
wiley   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

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