Results 111 to 120 of about 1,805 (231)
Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report
Journal of Current OphthalmologyPurpose: To study rare ocular findings in a rare case of hereditary multiple exostoses (HME) and to study HME in one family. Methods: HME is an autosomal dominant genetic disease characterized by the presence of multiple exostoses (osteochondromas).
Shashi Tanwar +3 more
doaj +1 more source
A Case of Proteus Syndrome, Suspected as Maffucci Syndrome in a Chinese Child
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8‐year‐old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian ...
Lin Juan +6 more
wiley +1 more source
Genetic counseling for congenital disorders of glycosylation (CDG)
Journal of Genetic Counseling, Volume 33, Issue 6, Page 1358-1364, December 2024.Abstract Congenital disorders of glycosylation (CDGs) are a genetically and clinically diverse group of disorders that arise as a result of defects within glycosylation synthetic pathways. CDGs are caused by pathogenic variants in many different genes in the glycosylation network.
Tara Weixel +2 more
wiley +1 more source
Peripheral chondrosarcoma progression is associated with increased type X collagen and vascularisation [PDF]
, 2011 Endochondral bone formation requires a cartilage template, known as the growth plate, and vascular invasion, bringing osteoblasts and osteoclasts. Endochondral chondrocytes undergo sequences of cell division, matrix secretion, cell hypertrophy, apoptosis,
Carlos E. de Andrea +31 more
core +2 more sources
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 +4 more
wiley +1 more source
Radiological conference. Osteopoikilosis [PDF]
, 1998 published_or_final_versio
Peh, WCG, Wong, LLS
core
Gradual ulnar lengthening in children with multiple exostoses and radial head dislocation: results at skeletal maturity [PDF]
, 2016 Purpose: Deformities of the forearm and shortening of the ulna occur in 30 % of patients with hereditary multiple exostoses (HME), leading to radial head dislocation and loss of movement. Several surgical techniques have been described for treatment,
Barbato A. +4 more
core +1 more source
Cancer Medicine, Volume 13, Issue 19, October 2024.TRPM8 is associated with various tumours, and in HCC, its low expression may play a critical role in disease progression through the TRPM8‐RTP3‐STAT3 axis. The multikinase inhibitor AD80 significantly upregulates TRPM8 expression, which in turn inhibits the proliferation and invasion of HCC cells by modulating the RTP3/STAT3 pathway. This suggests that
Lichan Chen +13 more
wiley +1 more source
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
doaj