Results 101 to 110 of about 11,502 (212)

Retrospective Evaluation of Acute Postoperative Complications Occurring in the ICU Following Canine Mitral Valve Repair Surgery Under Cardiopulmonary Bypass (2019–2020): 41 Cases

Journal of Veterinary Emergency and Critical Care, Volume 35, Issue 6, Page 736-753, November/December 2025.
ABSTRACT Objective To describe abnormalities and clinically relevant complications in dogs following mitral valve repair. Secondarily, to assess demographic and intraoperative factors with clinically relevant complications, length of ICU stay, successful ICU discharge, and survival to hospital discharge.
Christopher C. Ray, Thomas D. Greensmith
wiley   +1 more source

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Nail patella syndrooma : Harvinaiset-opas [PDF]

, 2014
Nail patella syndrooma (NPS) on harvinainen pleiotrooppinen (moneen ominaisuuteen vaikuttava) sairaus, minkä aiheuttaa LMX1B-geenimutaatio. Syndrooman oireet on kuvattu jo vuonna 1820.
Tokola, Sirpa, Mustonen, Marjaana
core  

4in1 Procedure in Treating Congenital Dislocation of Patella in Children

Orthopaedic Surgery, Volume 17, Issue 9, Page 2647-2652, September 2025.
Congenital dislocation of patella (CDP) is a rare condition. The 4in1 procedure includes lateral release, correction of quadriceps, Roux‐Goldthwait procedure, and medial patello‐femoral ligament (MPFL) reconstruction. Early diagnosis and the 4in1 procedure optimize patellar stability and knee function, preventing long‐term complications.
Meng‐jie Chen, Yi‐Chen Wang, Qi‐Chao Ma, Qin Zhang, Ting‐ting Li, Fang‐Chun Jin, Yi Luo   +6 more
wiley   +1 more source

#3084 Familial nephropathy associated with a combined mutations of Alport and Nail Patella syndrome genes in the same family

Nephrology, Dialysis and Transplantation
Alport syndrome is a genetic condition stemming from mutation in Type IV collagen and is characterized by kidney disease and frequently hearing loss and ocular abnormalities.
Josephine Abraham, Monica P. Revelo Penafiel, Siddhartha Kakani, Martin C. Gregory   +3 more
semanticscholar   +1 more source

Triangular Lunulae in Papillon–Lefèvre Syndrome: A Case Report

Clinical Case Reports
Triangular lunulae, typically associated with Nail–Patella Syndrome, may also present in other syndromes, as seen in this case. Papillon–Lefèvre syndrome is a rare genodermatosis linked to significant morbidity.
Zarak Khan Shiraz, Fahad Faizullah, Qaisar Ali Khan, Irfan Ullah, Mehran Khan, Bader Semakieh, Zain Ul Islam, Ravina Verma   +7 more
doaj   +1 more source

Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl

, 2008
Nail-patella syndrome (NPS), also known as hereditary osteoonychodysplasia, is a rare autosomal dominant pleiotropic disorder, defined by the association of nail dysplasia, skeletal abnormalities and renal lesions.(1) Skeletal features include absent or ...
GUERGOEZE, Metin K., Onar, Funda D., Patirglu, Tahir E., DURSUN, Ismail, Guenduez, Zubeyde, POYRAZOĞLU, Muammer Hakan, Akguen, Huelya, Duesuensel, Ruhan   +7 more
core   +1 more source

CASE REPORT OF NAIL-PATELLA SYNDROME

, 2020
Nail-patela sindrom (Fongova bolest, nasljedna osteoonihodiplazija) rijetki je genetski poremećaj koji je karakterističan po promjenama na noktima, koljenima, laktovima i pojavi ilijačnih rogova(1).
Štefančić, Karla
core  

Nail-Patella Syndrome [PDF]

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