Results 131 to 140 of about 329,564 (231)

HIP DYSPLASIA IN TORNJAK

, 2012
Canine hip dysplasia (CHD) is a hereditary developmental anomaly, most frequent in large dog breeds. Clinical confirmation of the disorder is based on hip X-ray imaging.
Dženita Hadžijunuzović-Alagić, Hrvoje Milošević, Amir Zahirović   +2 more
core  

Musculoskeletal health among adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To describe the burden of, and investigate prognostic factors for, osteoarthritis, osteopenia and/or osteoporosis, spondylosis, and fracture, and to investigate the effectiveness of protocols for monitoring musculoskeletal disorders and interventions for managing osteoarthritis in adults with cerebral palsy (CP).
Jennifer M. Ryan, Jessica Burke, Rachel Byrne, Emily Capellari, Christina M Marciniak, Maram Sofiany, Reuel Jalal, Mark Peterson, The Adult CP Clinical Practice Guideline Working Group, Jan Willem Gorter, Ashley Harris Whaley, Christine Imms   +11 more
wiley   +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

Pharmacological and non‐pharmacological interventions for managing sleep disorders in children with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
xxxxxx Aim To systematically review the effectiveness, safety, and economic evidence of pharmacological and non‐pharmacological interventions for sleep disorders in children with cerebral palsy (CP). Method Databases including MEDLINE, Embase, CENTRAL (the Cochrane Library), International Clinical Trials Registry Platform of the World Health ...
Nishant Jaiswal, Lizzie Fisher, Giorgio Ciminata, Ryan Mulholland, Anna Noel‐Storr, Lesley Nutton, Valerie Orr, Paul Eunson, Nicola J. Cooper, Alex Sutton, Olivia Wu, Terry Quinn   +11 more
wiley   +1 more source

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Artificial Intelligence in Neonatal Care: The Breadth of Promise, the Depth of Challenge—An Overview

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Artificial intelligence (AI) is becoming an integral tool in clinical care. The recent position statement by the Royal Australasian College of Physicians (RACP) provides a timely practical blueprint on implementing and monitoring the use of AI in clinical practice.
N. M. Lai, K. T. Yeo, J. Y. Kong, M. E. Abdel‐Latif   +3 more
wiley   +1 more source

When should secondary procedures be performed in residual hip dysplasia?

Acta Orthopaedica et Traumatologica Turcica, 2007
Residual hip dysplasia is one of the most important complications following treatment of developmental hip dysplasia. If untreated, this condition will cause problems during maturity.
Yucel TUMER, Haluk AGUS, Ali BICIMOGLU
doaj  

Recurrent UTIs in Children With CAKUT

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital abnormalities of the kidney and urinary tract (CAKUT) encompass diverse diagnoses that commonly present as urinary tract dilatation and are the leading cause of kidney failure in children. Antenatal hydronephrosis occurs in ~1% of pregnancies; most resolve spontaneously, but conditions such as posterior urethral valves (PUV ...
Lucielle Standish, Holly Campbell, Shehryar Saharan, Lilian M. Johnstone, Neil Price, Chris Kimber, Kiarash Taghavi   +6 more
wiley   +1 more source

A Novel Finding of Type V Osteogenesis Imperfecta: A Distinctive Pattern of Hip Dysfunction

, 2019
Introduction: In 2000, Glorieux et al. described a novel type of osteogenesis imperfecta (OI). Albeit resemblance with type IV in terms of severity, distinguishing radiological features including post-fracture hyperplastic callus (HPC), calcification of ...
Wong, J, To, MKT
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