Results 91 to 100 of about 15,613 (204)

Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss

Advanced Genetics, Volume 5, Issue 4, December 2024.
Different variants in a single gene can confer genetic pleiotropy (different phenotypes). One example is monoallelic variants in the ACTG1, coding for gamma (γ)‐actin, which is associated with classical Baraitser‐Winter Syndrome type 2 (BRWS2) and a variety of clinical presentations not fitting the original BRWS2 description including non‐syndromic ...
Maria T. Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A. Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L. Lam, Fred F. Telischi, Mustafa Tekin, Katherina Walz   +16 more
wiley   +1 more source

Shwachman–Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy

British Journal of Haematology, Volume 205, Issue 6, Page 2363-2369, December 2024.
Summary Shwachman–Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp).
Holger Cario, Alexis Bertrand, Shengjiang Tan, Bernd Auber, Miriam Erlacher, Eva‐Maria Mair, Sandra von Hardenberg, Dirk Lebrecht, Patrick Revy, Alan J. Warren   +9 more
wiley   +1 more source

The Effects of Various Corrective Exercise and Supportive Tools in Individuals with Genu Valgum [PDF]

مجله دانشگاه علوم پزشکی گرگان
This systematic review aimed to evaluate the effects of various corrective exercises and supportive tools in individuals with genu valgum. To ensure a comprehensive review, a search for original research, review articles, and clinical trials in both ...
Hamed Ebrahimpour, Amir Ali Jafarnezhadgero, Ebrahim Piri, Ehsan Fakhri Mirzanag   +3 more
doaj  

Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets

BMC Endocrine Disorders, 2022
Background Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets.
Sara MohammedAhmed Gafar, Ghassan Faisal Fadlalbari, Asmahan T. Abdalla, Sawsan Abdel Rahim Mohammed, Mohammed Khalid Alrasheed, Isam Ahmed Taha, Mohamed Ahmed Abdullah   +6 more
doaj   +1 more source

The Effectiveness of Temporary Hemiepiphysiodesis for Non‐idiopathic Coronal Angular Deformity of the Knee in Children: A Comparison of Hinge Eight‐Plate and Traditional Eight‐Plate

Orthopaedic Surgery, Volume 16, Issue 12, Page 3107-3117, December 2024.
Flow diagram of patient selection and exclusion. In this study, hinge eight‐plate (HEP) proved to be an appropriate device for temporary hemiepiphysiodesis for non‐idiopathic coronal angular deformities of the knee with high correction velocity in children.
Zhen‐Zhen Dai, Tai‐Chun Li, Han Zhou, Qin Zhang, Hai Li   +4 more
wiley   +1 more source

The Effect of TheraBand Training on the Q Angle and Distance of Ankle Medial Malleolus in Individuals With Genu Valgum Deformity

Physical Treatments, 2020
Purpose: Genu valgum deformity a common lower extremity deformity. The weakness of the lower limb muscles followed by the internal rotation of the femur and external rotation of the tibia, shift the gravitational pull to the outside of the knee.
Shiva Bahadori, Hooman Fatahi, Mansooreh Ahmadpoor   +2 more
doaj  

A spontaneously healed distal femoral fracture in an infant born preterm: A case report and review of the literature

Journal of Clinical Ultrasound, Volume 52, Issue 9, Page 1467-1472, November/December 2024.
Herein we report a male infant born preterm with a distal femoral fracture after non‐traumatic birth. The fracture is depicted by an elevated periosteum (white arrowheads) and anterior displacement of the right femoral epiphysis (white arrows); in comparison, the left femoral epiphysis is aligned to the femoral metadiaphysis (white arrows).
Telford Yeung, Roli Agrawal, Judy Seesahai, Tammy Warkentin   +3 more
wiley   +1 more source

Treatment of a symptomatic patient with severe progressive odontoid invagination and Cervicothoracic scoliosis: A case report

Clinical Case Reports, Volume 12, Issue 10, October 2024.
Key Clinical Message While there is no consensus on optimal treatment management for the rare condition of odontoid invagination with cervicothoracic scoliosis, skull traction for 12 weeks followed by combined posterior and anterior spinal fusion can be a feasible option.
Joost A. Burger, Lorenz Pichler, Maximilian Muellner, Thilo Khakzad, Friederike Schömig, Matthias Pumberger   +5 more
wiley   +1 more source

Meniscal allograft transplantation: A matched‐pair analysis reveals worse sport activity level but similar clinical improvement and survival in women compared to men

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 32, Issue 10, Page 2655-2665, October 2024.
Abstract Purpose The aim of this study was to assess how gender might affect the clinical outcome and survival of meniscal allograft transplantation (MAT). Methods A total of 358 patients (23.2% women, 76.8% men) were treated with fresh‐frozen nonirradiated allografts implantated arthroscopically using a single‐ or double‐tunnel technique without bone ...
Iacopo Romandini, Gian Andrea Lucidi, Emanuele Altovino, Manuela Salerno, Giuseppe Filardo, Alberto Grassi, Stefano Zaffagnini   +6 more
wiley   +1 more source

Modified supracondylar chevron osteotomy for correction of genu valgum deformity in constrained resources

Medical Journal of Babylon, 2020
Background: Various types of corrective osteotomies of the distal femur have been described in the literature for genu valgum deformity such as lateral opening wedge, medial closing wedge, dome osteotomy, wedgeless spike osteotomy, and wedgeless “V ...
Ashish Jaiman, Jatin Prakash, Rajesh Kumar Chopra, Siddharth Gupta   +3 more
doaj   +1 more source