Results 131 to 140 of about 726,961 (271)

Renal Cell Carcinoma in A Patient with Kartagener Syndrome: First Case Report in English Language

, 2015
Cardiac and pulmonary anomalies are common among patients with situs inversus totalis. Renal anomalies, including renal agenesis, dysplasia, hypoplasia, ectopia, polycystic kidney, and horseshoe kidney have been reported.
Nertila Poci Sağlam, Erkin Sağlam, Ahmet Selimoğlu, Mehmet Kutlu Demirkol, Akif Türk, Aydın Özgül   +5 more
core   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

Developmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng, Bahda Hoang, Meaghan Rubsam, Gabriela Lopez, Megan K. O'Brien, Theresa Sukal‐Moulton, Barbara Sargent, Colleen Peyton, Elizabeth Hoffman, Samuel Carey, Nicole Pouppirt, Raye‐Ann de Regnier, John A. Rogers, Richard L. Lieber, Arun Jayaraman   +14 more
wiley   +1 more source

Fibrous Dysplasia

This image depicts Fibrous Dysplasia. Fibrous Dysplasia can be found in a radiograph and diagnosis is relatively easy if common symptoms are ...

core  

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

, 2008
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Hirano, R., Fujita, Y., Kanemura, Y., Deguchi, K., Sloan, E.A., Clewing, J.M., Lou, S., Choi, K., Powell, R., Northrop, J., Elizondo, L.I., Inoue, K., SantaCruz, K., Boerkoel, C.F., Huang, C., Willaime-Morawek, S., van der Kooy, D., Marwedel, K.M., Okano, H., Armstrong, D.L., Lucke, T.   +20 more
core   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Targeted disruption of the histone lysine 79 methyltransferase Dot1L in nephron progenitors causes congenital renal dysplasia. [PDF]

Epigenetics, 2021
Wang F, Ngo J, Li Y, Liu H, Chen CH, Saifudeen Z, Sequeira-Lopez MLS, El-Dahr SS.   +7 more
europepmc   +1 more source

Genetic testing in paediatric neurological disorders

Developmental Medicine &Child Neurology, EarlyView.
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba, Byoung Chan Lee, Shekeeb S. Mohammad, Katrina Fisk, Michael Buckley, Russell C. Dale, Tony Roscioli, Paediatric Neurogenomic Working Group, Manoj P. Menezes, Sachin Gupta, Christopher Troedson, Esther Tantsis, Richard Webster, Bruce Bennetts, Deepak Gill, Kavitha Kothur   +15 more
wiley   +1 more source

Single system ectopic ureter in females: A single center study

Journal of Indian Association of Pediatric Surgeons, 2007
The purpose of this study was to inquire into the clinical features and methods for the diagnosis and management of single-system ectopic ureters associated with renal dysplasia. Materials and Methods: A total of 13 female patients were studied.
Gangopadhyaya A, Upadhyaya Vijay, Pandey Anand, Gupta D, Gopal S, Sharma S, Kumar Vijayendra   +6 more
doaj  

Hypophosphataemia in adults: approach to diagnosis and management

Internal Medicine Journal, EarlyView.
Abstract Hypophosphataemia is a common electrolyte disorder which can have clinically significant consequences for bone, muscle, neurological and haematological function. Its causes range from transient transcellular shifts in hospitalised patients to chronic renal phosphate‐wasting disorders mediated by fibroblast growth factor 23 (FGF23).
Kajanan Parameshwaran, Mawson Wang, Kirtan Ganda   +2 more
wiley   +1 more source

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report. [PDF]

J Pediatr Genet, 2022
Segovia-Ortí R, Espinosa de Los Monteros Aliaga Cano N, Lumbreras J, Sotto-Esteban D, Rodrigo MD.   +4 more
europepmc   +1 more source