Results 81 to 90 of about 3,517 (182)

Immune Dysregulation in a Child With SOD1‐Related Neurological Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Spastic tetraplegia and axial hypotonia (STAHP) associated with biallelic SOD1 deficiency is a recently described neurological disorder affecting children. Five studies have described a total of nine cases thus far, all characterized by the onset of progressive spastic tetraplegia beginning before 2 years of age. All but two of these cases are
Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam, Anna Lehman, Ramona Salvarinova, Jan M Friedman   +5 more
wiley   +1 more source

How are podocytes affected in nail–patella syndrome? [PDF]

, 2008
Nail–patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients with the syndrome.
A Rascle, AB Fogo, C Rohr, CTT Ton, D Vollrath, G Guo, H Chen, H Holthöfer, H Suleiman, HO Schöcklmann, I McIntosh, J Pelletier, J Reiser, JH Miner, JM Kaplan, JM Kim, L Heidet, LB Holzman, M Kestilä, MM Löwik, MP Winn, N Boute, N Wagner, R Morello, Ralph Witzgall, RE Palmer, S Barbaux, SD Dreyer, V Ruotsalainen, W Kriz, W Kriz   +30 more
core   +2 more sources

Nail patella syndrome.

JBR-BTR : organe de la Societe royale belge de radiologie (SRBR) = orgaan van de Koninklijke Belgische Vereniging voor Radiologie (KBVR), 2008
A 45 year old male presented to a primary care physician with complaints of long term, bilateral knee and bilateral foot pain, without history of significant trauma. Physical exam demonstrated full range of motion without any erythema or edema. Fingernails were abnormal and hypoplastic.
A, Snoeckx, F M, Vanhoenacker, P M, Parizel   +2 more
openaire   +3 more sources

Nail-Patella Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1963
J A Fixsen, D R Sweetnam
openaire   +3 more sources

Type III collagen disorders: A case report and review of literature

Indian Journal of Pathology and Microbiology, 2016
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition.
A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal   +5 more
doaj   +1 more source

Hereditäre Nephropathien: Dünne Basalmembranen, Alport-Glomerulopathie, Alport-Konduktorinnen [PDF]

, 2018
Zusammenfassung: Das Syndrom der dünnen Basalmembranen und das Alport-Syndrom sind hereditäre Nephropathien, die die glomerulären Basalmembranen betreffen.
Hopfer, H., Mihatsch, M.J.
core  

Responsiveness of the Liverpool Elbow Score in elbow arthroplasty. [PDF]

, 2013
BACKGROUND Responsiveness and floor and ceiling effect are important parameters for evaluating the sensitivity of an outcome instrument in detecting the changes in the clinical condition of patients after an intervention as well as evaluating the ...
Amirfeyz, Ashmore, Beurskens, Coelho, Davidson, Dawson, Dawson, De Boer, de Vet, Deyo, Farasyn, Frost, Graham J. Kemp, Grotle, Guyatt, Husted, Irrgang, Ishikawa, Jette, Kalogrianitis, Karthik Vishwanathan, Kazis, Lauridsen, Liang, Lohr, Mancuso, Mannion, Maughan, McHorney, Munoz-Mahamud, Naal, Norman, Norman, Omid Alizadehkhaiyat, Patrick, Reising, Revicki, Sathyamoorthy, Simon P. Frostick, Streiner, Suarez-Almazor, Tashjian, Taylor, Terwee, Testa, Van der Leeden, Wright   +46 more
core   +2 more sources

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   +1 more source

Síndrome unha-patela: Evolução da instabilidade da patela Nail-patella syndrome: evolution of pattelar instability

Acta Ortopédica Brasileira, 2007
A síndrome da unha-patela é uma doença de caráter autossômico dominante, com algumas características clássicas dermatológicas, músculoesqueléticas e, eventualmente, renais, oculares e gastrointestinais.
Lucas Busnardo Ramadan, José Ricardo Pécora, Márcia Uchoa de Rezende, Gilberto Luis Camanho, Arnaldo José Hernandez, Marco Kawamura Demange   +5 more
doaj   +1 more source

Orthopedic manifestations and management of nail-patella syndrome: a narrative review

Frontiers in Pediatrics
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by skeletal and renal abnormalities. Diagnosis is primarily clinical, based on four main features: nail dysplasia, patellar and elbow abnormalities, and the presence of iliac
Amandine Beaugé, Viola Sbampato, Oscar Vazquez, Giacomo De Marco, Christina Steiger, Romain Dayer, Dimitri Ceroni   +6 more
doaj   +1 more source