Results 201 to 210 of about 192,260 (303)

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

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Developmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang, Beril Din, John H. McDermott, RCC1 Neuropathy Study Group, Adam Jackson, Halil Tuna Akar, Ali Dursun, Riza Koksal‐Ozgul, Reza Sadjadi, Lauren Politica, Stephan Zuchner, Reza Maroofian, Usman Ali, Dudu Turkyilmaz, Jawadur Rahman, Hasan Bas, Khalid Hussain, Khalid A Fakhro, Aljazi Al‐Maraghi, Annemarie CS Knijnenburg, Monique Engel, Debby Hellebrekers, Heike Losch, Sietse M Aukema, Marlene Kullik, Christoph Geier, Raymond T. O'Keefe, William G. Newman, J. Robert Harkness   +28 more
wiley   +1 more source

IRRADIATION CATARACT [PDF]

British Journal of Ophthalmology, 1934
openaire   +2 more sources

DiaActive protocol: A randomized controlled trial of cognitive‐motor multicomponent exercise to reduce fall rate in older adults with diabetes

Diabetic Medicine, EarlyView.
Abstract Introduction Older adults with diabetes have an increased risk of falls due to neuropathy, impaired bone health and cardiovascular disease, resulting in significant morbidity and mortality. Conventional fall‐prevention programmes primarily target strength and balance, while cognitive‐motor integration, essential for safe mobility in complex ...
Aksayan Arunanthy Mahalingasivam, Asger Ahlmann Bech, Peter Vestergaard, Martin Grønbech Jørgensen, Nicklas Højgaard‐Hessellund Rasmussen   +4 more
wiley   +1 more source

Global challenges for lens and cataract research. [PDF]

Front Ophthalmol (Lausanne)
Wormstone M.
europepmc   +1 more source

Neuropsychiatric Outcomes Associated With GLP‐1 Receptor Agonist Use in Medicare Beneficiaries With Type 2 Diabetes: Variation by Treatment Pattern and Obesity Status

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Glucagon‐like peptide‐1 (GLP‐1) receptors are expressed in brain regions governing mood, reward and stress, yet the neuropsychiatric effects of GLP‐1 receptor agonist (GLP‐1 RA) therapy remain poorly characterized. We estimated associations between GLP‐1 RA use and neuropsychiatric disorders and variation by obesity status and treatment ...
Seo Hyon Baik, Fitsum Baye, Haotian Xian, Kin Wah Fung, Clement J. McDonald   +4 more
wiley   +1 more source

Factors Affecting Delay in Presentation and Management of Pediatric Cataract: A Cross-sectional Study at a Tertiary Philippine Hospital. [PDF]

Acta Med Philipp
Jereza MD, Santiago APD.
europepmc   +1 more source

Nonclassical ultrasonographic presentation of retinal detachment: Blindness in a 21‐year‐old gelding with equine recurrent uveitis

Equine Veterinary Education, EarlyView.
Summary A 21‐year‐old gelding, with a history of equine recurrent uveitis, was presented for a chronic nonhealing corneal ulcer. Ophthalmic examination of the right eye revealed a deep corneal ulcer, with the presence of corneal neovascularisation, mild diffuse corneal oedema and hypopyon. Additionally, the gelding was blind from the affected eye.
M. van Heule, A. Khachadoorian, M. Wichtel, B. N. Lillie, D. Kenney, A. Merchán Muñoz   +5 more
wiley   +1 more source

Exponential myopic shift over 13 years in aphakic and pseudophakic eyes after congenital cataract surgery within 6 months of birth. [PDF]

Br J Ophthalmol
Oshika T, Unoki N, Miyagi M, Nomura K, Mori T, Matsuki N, Endo T, Kurosaka D, Negishi K, Yoshida S, Nagamoto T, Nishina S.   +11 more
europepmc   +1 more source