Results 81 to 90 of about 1,639 (208)

LABRAD : Vol 42, Issue 1 - March 2016 [PDF]

, 2016
Biochemical Bone Profiles Available at Clinical Laboratoryof Aga Khan University Hospital Ionized Calcium Determination in Clinical Labortory Parathyroid Hormone Disorders and Issues of Testing Tubular Maximum Reabsorption Rate of Phosphate to Glomerular
Aga Khan University Hospital, Karachi,
core   +1 more source

Spine Osteochondromas: are they always rare and harmless? A case series of six symptomatic cases

Coluna/Columna
Osteochondroma is the most common benign bone tumor, though spinal involvement is rare. This study presents a case series of six symptomatic spinal osteochondromas, including both solitary forms and cases associated with multiple hereditary exostoses ...
GABRIEL FARIAS ALVES, ALDERICO GIRãO CAMPOS DE BARROS, LUíS E. CARELLI   +2 more
doaj   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

eJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer, Arie Arensman, H. Rob Taal, Emilie P. Buddingh, Su Ming Sun, Anthon Hulsmann, Lenneke Waals‐Prinzen   +6 more
wiley   +1 more source

Distal femoral osteochondromas in patients with hereditary multiple osteochondromas, a longitudinal radiological assessment. [PDF]

International Journal of Research Studies in Biosciences, 2015
Contains fulltext : 152132.pdf (Publisher’s version ) (Open Access)
Staal, H.M., Nijhuis, W., Hannink, G.J., Witlox, A.M., Zwan, A.L. van der, Ham, S.J., Arts, J.J., Rhijn, L.W. van   +7 more
openaire   +2 more sources

Cervical Myelopathy Caused by Disc Herniation at the Segment of Existing Osteochondroma in a Patient with Hereditary Multiple Exostoses [PDF]

Asian Spine Journal, 2014
Hereditary multiple exostoses (HME) is a benign hereditary disorder characterized by multiple osteochondromas. Osteochondroma appears occasionally in the spinal column as a part of HME.
Ko Ikuta, Kiyoshi Tarukado, Hideyuki Senba, Takahiro Kitamura, Norihiro Komiya, Satoshi Shidahara   +5 more
doaj   +1 more source

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

MedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma, Eloy Yinwang, Xupeng Chai, Fangqian Wang, Zehao Chen, Shengdong Wang, Hao Zhou, Yucheng Xue, Jiangchu Lei, Fanglu Chen, Hengyuan Li, Shixin Chen, Shenzhi Zhao, Kelei Wang, Liang Chen, Junjie Gao, Zhaoming Ye, Nong Lin   +17 more
wiley   +1 more source

Radiological conference. Enchondroma [PDF]

, 1998
published_or_final_versio
Peh, WCG, Wong, LLS
core  

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis‐Associated Pathway in the POIKTMP Syndrome

Journal of Cellular and Molecular Medicine, Volume 29, Issue 19, October 2025.
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe, Musalula Sinkala, Oluwafemi G. Oluwole, Nonhlanhla P. Khumalo, Afolake Arowolo   +4 more
wiley   +1 more source

Multiple hereditary osteochondroma presenting as spastic paraplegia

International Journal of Contemporary Pediatrics
Osteochondromas are benign bony tumours with only 1–4% being located in the spine.  Compressive myelopathy as a presentation of vertebral osteochondroma in a child is a rare entity. Our case being 6-year-old female with multiple osteochondroma involving spine presenting as spastic paraplegia is itself rare as males of 2nd decade are mostly affected ...
Archana Meena, Anuradha Sanadhya, Aishwarya Sindhur, Priya Bhardwaj, Akanksha Sharma   +4 more
openaire   +1 more source

Costal exostosis with fungation: A rare presentation

Journal of Orthopedics, Traumatology and Rehabilitation, 2014
Costal exostosis occurs either sporadically or as a manifestation of hereditary multiple osteochondromas (HMOs), a disorder that is inherited in an autosomal dominant manner.
Hashmukh Shantilal Varma, Sachin Upadhyay   +1 more
doaj   +1 more source