Results 141 to 150 of about 69,977 (308)

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Surgical management of carpus valgus deformity caused by persistent ulna in three large breed foals

Equine Veterinary Education, EarlyView.
Summary This case series describes the occurrence of persistent ulnar remnants in three large breed foals presented with bilateral carpus valgus deformity. Distal ulnar ossification was diagnosed based on lateromedial radiographic projections. Treatment included distal ulna ostectomy in conjunction with transphyseal screw placement or periosteal ...
A. C. Müller, A. Ehrle, C. P. Bartmann, C. Lischer, M. Röcken   +4 more
wiley   +1 more source

The significance of rudimentary ulnas and fibulas during development of angular limb deformities in foals

Equine Veterinary Education, EarlyView.
Summary Carpal valgus deformities remain a common challenge in foals, yet their aetiology is often multifactorial and rarely attributable to a single anatomical anomaly. Recent case reports by Müller et al. (2025) suggest that rudimentary ulnas may play a causative role in these deformities, but such claims warrant closer scrutiny.
J. A. Auer, C. Valletti, T. R. Schmitz
wiley   +1 more source

An unusual presentation of osteochondrosis in the elbows and tarsi of a Friesian colt

Equine Veterinary Education, EarlyView.
Summary This case report describes the clinical, diagnostic imaging results and post‐mortem findings in a foal that underwent reassessment following surgical management of angular limb deformities (ALD) and acute onset of gait abnormalities. Upon presentation, the foal showed an abnormal stiff gait characterised by bilateral medial limb collapse during
A. Torrent‐Crosa, A. Merchán‐Muñoz, C. Co, E. Borkowski   +3 more
wiley   +1 more source

Closed Rupture of the Extensor Tendon of the Ring and Little Fingers Following Plate Fixation for Distal Ulna Fracture: A Case Report. [PDF]

Cureus
Imai T, Zukawa M, Hirokawa T, Kawaguchi Y.   +3 more
europepmc   +1 more source

Descriptive epidemiology of long‐term injuries in jump racing Thoroughbreds in Great Britain

Equine Veterinary Journal, EarlyView.
Abstract Background Race‐related injuries in horse racing, especially those requiring extended recovery, are a welfare concern and threaten the sport's social licence. Previous studies predominantly report on fatalities; however, serious non‐fatal musculoskeletal injuries often end horses' racing careers or have a high recurrence risk.
Sophia McDonald, Kristien L. P. Verheyen, Yu‐Mei Chang, Sarah E. Allen   +3 more
wiley   +1 more source

Surgical management and postoperative functional recovery of distal ulna tumors: a case report and literature review. [PDF]

Front Oncol
Han YH, Liang TJ, Zhu CX, Kang SJ, Wang DL.   +4 more
europepmc   +1 more source

Ulna

, 2015
Aaron Wong, Francis Deng, Daniel Bell
openaire   +1 more source

Posttraumatic rotation deficit of the forearm, including synostosis [PDF]

, 2012
Hollevoet, Nadine, KEGELS, LORE, Vanhove, Wim   +2 more
core   +1 more source