Results 121 to 130 of about 51,591 (290)

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Italian Journal of Pediatrics, 2019
Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla   +6 more
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source

Evaluating the clinical utility of multimodal large language models in rare maculopathy

Scientific Reports
This study aimed to assess how multimodal large language models (MLLM) diagnose and differentiate Pentosan Polysulfate (PPS) Maculopathy from other phenotypic mimics. A retrospective review of clinical records and multimodal retinal imaging was conducted
Melanie D. Tran, Evan Walker, Ines D. Nagel, Nehal Nailesh Mehta, Jesse Most, Henry A. Ferreyra, Lesley A. Everett, Paul Yang, Mark E. Pennesi, Shyamanga Borooah   +9 more
doaj   +1 more source

Pattern Dystrophies and Choroidal Neovascularization

Güncel Retina Dergisi (Current Retina Journal), 2017
Pattern dystrophies are hereditary dystrophies that come from retinal pigment epithelium and located in the macula. The diagnosis is usually made around the middle ages. Pigment accumulations in the macula and around the macula, are seen bilaterally and symmetrical in the beginning, are sub-divided depending on pigment scattering pattern.
openaire   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Clinical and genetic investigation of amantadine-associated corneal edema

Clinical Ophthalmology, 2018
Michelle M Hessen, Sina Vahedi, Chloe T Khoo, Gelareh Vakili, Allen O Eghrari Division of Cornea, Cataract, & External Diseases, The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Purpose: Amantadine use
Hessen MM, Vahedi S, Khoo CT, Vakili G, Eghrari AO   +4 more
doaj  

British National Formulary Guidance on prescribing in pregnancy: A descriptive cross‐sectional study

British Journal of Clinical Pharmacology, EarlyView.
Aim To assess how well pregnancy‐specific guidance within the British National Formulary supports healthcare professionals to facilitate safe and effective medication use. Methods We performed a manifest content analysis of the text of all pregnancy sections within British National Formulary drug monographs, with inductive and iterative coding.
Hannah Johnson, Cleodie Swire, Lakshiv Dhingra, Toqa El‐Nahhas, Michelle Essiam, Salma Muse, Maria Tonkova, Nazmin Begum, Joan Morris, Emma Baker   +9 more
wiley   +1 more source

Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement

, 2014
Contains fulltext : 137573.pdf (Publisher’s version ) (Open Access)To better understand postural and movement disabilities, the pattern of total body muscle fat infiltration was analyzed in a large group of patients with ...
Rijken, N.H.M., Engelen, B.G.M. van, Hendriks, J.C.M., van Asseldonk, R.J.G.P., Geurts, A.C.H., Asseldonk, R.J. van, Padberg, G.W.A.M., Padberg, G.W., van der Kooi, E.L., van Engelen, B.G.M., Kooi, E.L. van der   +10 more
core   +1 more source

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

Biological Reviews, EarlyView.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater, Adam Dušek, Aleksandra Bartelik, Silvia Mandillo, Elisabetta Golini, Mara Rigamonti, Rasneer Sonia Bains, Hamish Forrest, Marion Rivalan, Melissa Long, Anna Kiryk, Lars Lewejohann, Nuno Henrique Franco   +12 more
wiley   +1 more source

Pattern Dystrophy With High Intrafamilial Variability Associated With Y141C Mutation In The Peripherin/Rds Gene And Successful Treatment Of Subfoveal Cnv Related To Multifocal Pattern Type With Anti-Vegf (Ranibizumab) Intravitreal Injections

Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype.
Tran, Hoai V., Schorderet, Daniel F., Munier, Francis L., Vaclavik, Veronika, Gaillard, Marie-Claire   +4 more
core   +1 more source