Results 271 to 280 of about 327,717 (360)

Primary Aneurysmal Bone Cyst of Long Bones Treated with a Single Dose of Calcitonin and Methylprednisolone Percutaneous Intralesional Injection: A Case Series and Literature Review

, 2017
Marcelo Bragança dos Reis Oliveira, Walter Meohas, Gustavo Sobral de Carvalho, Ronaldo Rego Rodrigues, Felipe Cesar Rosa Oliveira, Ana Cristina de Sá Lopes, Fernanda Carvalho de Queiroz Mello, Marcos Eduardo Machado Paschoal   +7 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Surgical management of pediatric spinal aneurysmal bone cysts: patient series. [PDF]

J Neurosurg Case Lessons
Flyer BE, Vanstrum EB, Chapman N, Ha JH, Al-Husseini JK, Chu JK, McComb JG, Durham SR, Krieger MD, Chiarelli PA.   +9 more
europepmc   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Open surgical treatment of unicameral bone cysts : A retrospective data analysis. [PDF]

Wien Klin Wochenschr
Döring K, Sturz GD, Hobusch G, Puchner S, Windhager R, Chiari C.   +5 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

284 Reduced bone density in patients with Cystic Fibrosis in the Republic of Macedonia

, 2006
T. Jakovska-Maretti, S. Fustik
openalex   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Simple bone cysts of the proximal humerus presented with limb length discrepancy: A case report. [PDF]

World J Clin Cases
Lin CS, Lin SM, Rwei SP, Chen CW, Lan TY.   +4 more
europepmc   +1 more source

Back Again to the Future: A New Era for Cerebroprotection

Annals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source