Results 81 to 90 of about 4,610 (228)

Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Achondroplasia (ACH) is a rare, autosomal dominant skeletal dysplasia characterized by short stature, characteristic facial configuration, and trident hands. Before vosoritide approval in Japan, patients with ACH could start growth hormone (GH) treatment at age 3 years.
Hiroyuki Saitou, Taichi Kitaoka, Takuo Kubota, Junko Kanno, Hiroshi Mochizuki, Toshimi Michigami, Kosei Hasegawa, Ikuma Fujiwara, Takashi Hamajima, Daisuke Harada, Yuko Seki, Keisuke Nagasaki, Sumito Dateki, Noriyuki Namba, Hirofumi Tokuoka, Jeanne M. Pimenta, Shelda Cohen, Keiichi Ozono   +17 more
wiley   +1 more source

Blount Disease Evaluation of the Operative Treatment Within 2006-2014 in Dr. Soetomo General Hospital Surabaya [PDF]

, 2017
Background: Blount disease is a growth disturbance of the medial side of the proximal physeal of the tibia, epiphyseal and metaphyseal. Clinically this disease marked by varus angulation and internal rotation of the tibia on the metaphyseal area below ...
Ranuh, I. G. (I), Suryaningrat, K. A. (Komang)   +1 more
core  

Pseudoachondroplasia: A case report [PDF]

, 2013
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity
Dučić Siniša, Jakovljević Miroslav, Leković Zoran, Pavićević Polina, Radlović Nedeljko, Radlović Vladimir, Smoljanić Željko   +6 more
core   +1 more source

Wearable sensor systems measure differences in knee laxity between healthy and affected knees during dynamic exercise activities: A systematic review

Journal of Experimental Orthopaedics, Volume 11, Issue 3, July 2024.
Abstract Purpose Knee laxity can be experienced as knee instability which may lead to a limitation in the activity of patients. Current methods to determine knee instability are performed in a static setting, which does not always correlate with dynamic knee laxity during activities.
Sander C. van Eijck, Marly M. J. Vugts, Rob P. A. Janssen, Iris Hoogendoorn, Keita Ito, Maria C. van der Steen   +5 more
wiley   +1 more source

Comparsion of peak vertical ground reaction forces and the rate of loading during single leg drop landing between men with genu varum deformity and normal knee from different heights

مجله دانشگاه علوم پزشکی گرگان, 2015
Background and Objective: There are relations between rate of loading, osteoarthritis and genu varum result in osteoarthritis. This study was done to compare the peak vertical ground reaction forces and the rate of loading during single leg drop landing ...
Mosavi SK, Barati AH, Shojaeddin SS, Memar R   +3 more
doaj  

The relationship between genu varum abnormality and lower extremity’s performance and strength in teenage footballers

مجله پژوهش در علوم توانبخشی, 2011
Introduction: The aim of this study was to explore the relationship between Genu Varum abnormality and the performance and strength of lower extremity in teenage footballers.
Malihe Hadadnezhad, Amir Letafatkar
doaj   +1 more source

Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Clinical Genetics, Volume 106, Issue 1, Page 47-55, July 2024.
NGS‐Multigene panel sequencing with 386 genes known or suspected to cause skeletal dysplasias (SKDs) was employed to investigate SKDs in 7 consanguineous Pakistani families and 27 Indian cases. Various known and novel variants across different genes associated with SKDs were identified. Thus, expanding the allelic spectrum of SKDs.
Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann   +13 more
wiley   +1 more source

The Comparison of the Pattern and Activity of Selected Muscles of the Lower Extremity in Athletes with Genu Varum and Healthy Athletes during Running: A Case-Control Study

مجله پژوهش در علوم توانبخشی, 2017
Introduction: Malalignment of the lower extremity, especially at the knee, can lead to injury due to its impact on muscle activity. Therefore, the aim of the present study was to compare the pattern and activity of selected muscles of the lower extremity
Hosein Tajdini-Kakavandi, Heidar Sadeghi, Ali Abbasi   +2 more
doaj   +1 more source

The Relationship Between Football Participation Level and Lower Leg Alignment in Youth Males: Genu Varum [PDF]

, 2019
The aim of this study was to determine the effects of football participation levels on genu varum ratings by using Q angle and intercondylar distance.
Işın, Ali, Melekoğlu, Tuba
core   +2 more sources

RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review

American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.
Abstract Biallelic pathogenic variants in RMRP, the gene encoding the RNA component of RNase mitochondrial RNA processing enzyme complex, have been reported in individuals with cartilage hair hypoplasia (CHH). CHH is prevalent in Finnish and Amish populations due to a founder pathogenic variant, n.71A > G. Based on the manifestations in the Finnish and
Noboru Uchida, Tomohiro Ishii, Gen Nishimura, Takeshi Sato, Gen Kuratsuji, Keisuke Nagasaki, Yuki Hosokawa, Eriko Adachi, Kei Takasawa, Kenichi Kashimada, Yuko Tsujioka, Tomonobu Hasegawa   +11 more
wiley   +1 more source