Results 51 to 60 of about 1,515 (149)

High Spinal Cord Injury After a Minor Fall in a 23‐Month‐Old Girl With Atlantoaxial Instability Associated With Morquio Type A: A Case Report

Case Reports in Surgery, Volume 2026, Issue 1, 2026.
Case A 23‐month‐old girl with Morquio A syndrome (mucopolysaccharidosis IVA [MPS IVA]) scheduled for atlantoaxial stabilization surgery sustained a cervical spinal cord injury with tetraplegic symptoms following a low‐energy fall. Computed tomography (CT) images showed forward translation of C1 over C2 and magnetic resonance imaging (MRI) revealed ...
Verneri Kryssi, Johanna Syvänen, Linda Helenius, Arimatias Raitio, Ilkka Helenius, Neetu Rawal   +5 more
wiley   +1 more source

Bilateral Distal Patellar Tendon Rupture in a 10‐Year‐Old Child: A Case Report and Review of the Literature

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Background Patellar tendon rupture is a rare lesion that usually occurs in adult patients with predisposing factors. The condition is even rarer in pediatric populations and presents either as a sleeve fracture of the patella’s inferior pole or as an avulsion of the tibial tubercle.
Elvin Gurbanov, Oscar Vazquez, Tiago Guedes Almeida, Dimitri Ceroni, Giacomo De Marco, Srijoni Sengupta   +5 more
wiley   +1 more source

Nail Patella Syndrome.

Indian journal of dermatology, venereology and leprology, 2017
A 14-year-old male having nail-patella syndrome, manifested as deficient nails on the ubw aspect of thumbs, V-shaped half- moons, rudimentry patella on right side and absence on left side. X-ray of pelvis showed iliac horns.. Family history was suggestive of autosomal dominant of inheritance.
V K, Jain, U S, Pahwa, Anil, Dashore
openaire   +3 more sources

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report

Journal of Orthopaedic Case Reports
Introduction: Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral.
Mohammed Alshahrani, Ali Maqbool, Mubashar Maqbool   +2 more
doaj   +1 more source

Congenital Anomalies of the Knee—Hypoplasia of the Meniscus: A Case Report

Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.
Background Congenital anomalies involving the meniscus and anterior cruciate ligament (ACL) are rare and often discovered incidentally. Discoid meniscus is the most frequently reported congenital variant, whereas medial meniscal hypoplasia and ACL agenesis remain exceptionally uncommon.
Arianna Paa, Doyle Ford, William Woodhams, William Galardi, Abdoul Mbengue, Micah Lissy, Shashank Kaushik   +6 more
wiley   +1 more source

Hypertrophic Osteopathy Associated With Intrathoracic Masses in 5 Dogs and Review of the Literature

Veterinary Medicine International, Volume 2026, Issue 1, 2026.
This study describes the clinical and radiographical findings of hypertrophic osteopathy in 5 female mature adult dogs with pulmonary and mediastinal masses. Besides, the literature review from the past to today provides information about the disease.
Mehmet Alper Cetinkaya, Soner Cagatay, Mehmet Pilli, Ali Curukoglu, Deniz Seyrek Intas, Lipi Buch   +5 more
wiley   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, Volume 98, Issue 6, Page 1335-1351, December 2025.
[Color figure can be viewed at www.annalsofneurology.org] Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Total Anonychia Congenita with Carpal Synostosis [PDF]

Disease and Diagnosis
Background: Anonychia congenita is a rare genetic disorder of fingernails and/or toenails with unknown prevalence leading to aplasia of nail structures which may be seen either as an isolated abnormality or as part of a syndrome affecting multiple parts ...
Milad Bahari, Negar Douzandeh
doaj   +1 more source

Lysine Acetyltransferase 6 in Health and Disease

MedComm, Volume 6, Issue 12, December 2025.
KAT6A and its paralog KAT6B have emerged as druggable targets for the treatment of malignancies, especially for breast cancer. Recent progress in drug discovery has promoted the development of dual inhibitors targeting KAT6A and KTA6B, which shows potent antitumor efficacy and manageable toxicity.
Yujing Tan, Jiani Wang, Fei Ma
wiley   +1 more source

Comparison of double bundle semitendinosus technique and pedicled quadriceps technique in patellar instability

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 33, Issue 11, Page 3762-3771, November 2025.
Abstract Purpose To compare clinical and functional outcomes of medial patellofemoral ligament (MPFL) reconstruction using a minimally invasive pedicled quadriceps tendon (QT) or patella double tunnel technique with semitendinosus tendon (ST) graft in patients with recurrent patella dislocation.
Tayfun Özel, Semih Yaş, Hayati Hürol Türkoğlu, Asim Ahmadov, Muhammet Baybars Ataoğlu, Ulunay Kanatlı   +5 more
wiley   +1 more source