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http://dx.doi.org/10.1093/rheumatology/keac310 | DOI Listing |
Hum Genet
September 2025
College of Otolaryngology Head and Neck Surgery, Chinese PLA General Hospital, Chinese PLA Medical School, 28 Fuxing Road, Beijing, 100853, China.
Recessive variants in TWNK cause syndromes arising from mitochondrial DNA (mtDNA) depletion. Hearing loss is the most prevalent manifestation in individuals with these disorders. However, the clinical and pathophysiological features have not been fully elucidated.
View Article and Find Full Text PDFCureus
August 2025
Orthopaedic Surgery, University of Texas Rio Grande Valley School of Medicine, Edinburg, USA.
Finger reconstruction in the aftermath of severe trauma poses significant challenges in restorative surgery, particularly when addressing extensive soft tissue damage, comminuted fractures, and simultaneous neurovascular complications. This study presents a case of a patient with a complicated proximal phalangeal fracture who pursued digit salvage. A 31-year-old Hispanic woman sustained severe injury to her right fifth digit during an all-terrain vehicle (ATV) rollover resulting in an exposed, comminuted fracture of the proximal phalanx with extensive structural and neurovascular compromise.
View Article and Find Full Text PDFThe transition to bipedal locomotion is a key event in human evolution, involving substantial changes to the skeleton, including the bones of the hands and feet (autopods). Hominins evolved a more muscular and opposable thumb while the other fingers are relatively shorter, enhancing manipulative capacity. The feet evolved robust first toes and short lateral toes to meet the challenges of bipedal walking and running.
View Article and Find Full Text PDFMed Mycol
September 2025
Associate Professor, Department of Infectious Diseases and Clinical Microbiology, Istınye University, Faculty of Medicine, Istanbul, Turkey.
This multicentre retrospective study investigated the epidemiology, clinical characteristics, and fluconazole resistance rates of Candida species in osteoarticular infections across Turkey as well as the factors influencing complete recovery. Data were gathered from 73 adult patients diagnosed with proven or probable Candida-associated osteoarticular infections between 2015 and 2025 from 20 healthcare centres. The most common clinical presentation was spondylodiscitis, followed by the involvement of phalangeal bones in the hands and feet.
View Article and Find Full Text PDFWorld J Clin Cases
August 2025
Department of Orthopaedics, All India Institute of Medical Sciences, New Delhi 110029, Delhi, India.
Background: Osteochondroma of the hand and phalanges is rare. Although rare, solitary phalangeal osteochondromas can result in pain, cosmetic deformity, compression of nearby neurovascular structures and tendons, or functional limitation of adjacent joints that warrant surgical correction when symptomatic. At times, involvement of the growth plate by juxtaepiphyseal exostosis can cause angulation deformity, necessitating corrective osteotomy.
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