Results 31 to 40 of about 58,003 (251)

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

BMC Medical Genetics, 2020
Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction.
Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali, Mikhail Skoblov   +6 more
doaj   +1 more source

Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD)

Molecular Genetics and Metabolism Reports, 2020
Background: Previous estimates of the prevalence of Menkes disease, a lethal X-linked recessive disorder of copper metabolism, were based on confirmed clinical cases ascertained from specific populations and varied from 1 in 40,000 to 1 in 354,507.
Stephen G. Kaler, Carlos R. Ferreira, Lung S. Yam   +2 more
doaj   +1 more source

Atrioventricular Septal Defect: What Is in a Name?

Journal of Cardiovascular Development and Disease, 2021
Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult ...
Michael Rigby
doaj   +1 more source

Physician‐Scientist Pipeline for Pediatric Rheumatology: The Current Landscape and Future Perspectives

Arthritis Care &Research, EarlyView.
Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu, Linda T. Hiraki, Mara L. Becker   +2 more
wiley   +1 more source

Progressive Duchenne/Becker muscular dystrophy, preclinical stage, deletion of exons 45-55 of the DMD gene in the hemizygous state: a clinical case from practice

Лечащий Врач
Background. Duchenne/Becker progressive muscular dystrophy is an X-linked recessive disease caused by mutations in the DMD gene encoding the dystrophin protein.
A. M. Ivanov, E. V. Matvienko, E. A. Balakireva, A. A. Zherdeva, V. A. Ivanova   +4 more
doaj   +1 more source

A Rare Case of Metastatic Hepatocellular Carcinoma Masquerading as a Forehead Hematoma

Case Reports in Gastrointestinal Medicine, 2020
Hepatocellular carcinoma (HCC) is the most common primary liver cancer and can arise from any form of chronic liver disease or cirrhosis. With increasing rates of metabolic syndrome and obesity, it is not surprising that NASH is quickly becoming a ...
Kimberly Sanders, Ashley Thomas, Carmen Isache, Anwer Siddiqi   +3 more
doaj   +1 more source

Engineering Concentration‐Dependent Intravitreal Mobility via Cyclic Arginine‐Enriched Nanocarrier Surface Modification: In Vivo Proof‐of‐Concept in a Porcine Large Animal Model

Advanced Healthcare Materials, EarlyView.
In this study, Hammer et al. highlight cyclic‐arginine surface engineering as a highly biocompatible, controllable, and concentration‐dependent regulator of intravitreal nanoparticle mobility in vivo in a translational large animal model. The cyclic arginine surface‐modification supports the development of next‐generation biomaterials for long‐acting ...
Maximilian Hammer, Bryan Calder Ackermann, Anna Stoß, Niklas Junker, Ludwig Geisweid, Sabrina Wohlfart, Jonathan Herth, Simon William Pohl, Manuel Ben Böhmann, André Schulz, Victor Aristide Augustin, Gerd Uwe Auffarth, Philipp Uhl   +12 more
wiley   +1 more source

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
doaj   +1 more source

Giant bilateral Becker's nevus: Uncommon presentation of a common disease

Pigment International, 2016
Becker's nevus or melanosis is an acquired pigmented hairy nevus with both epidermal and dermal components, commonly seen in males. Herein, we report a case of giant bilateral Becker's nevus involving shoulder, scapular region, anterior chest and both the arms. Bilaterally, symmetrical presentation and large area of involvement make it a rare case.
Anupam Das, Karan Sancheti, Indrashis Podder, Nidhi Gupta, RameshChandra Gharami   +4 more
openaire   +1 more source

Mitochondria and Neuromast Tagging With Fluorescent Gallium‐Triapine Analogues: In Cellulo MP FLIM and Zebrafish Live Imaging

Advanced Science, EarlyView.
Fluorescent BODIPY‐conjugated thiosemicarbazone ligands and their Ga(III), In(III), and Fe(III) complexes, inspired by Triapine, are developed as theranostic agents. Multiphoton FLIM and confocal microscopy in cancer cells and zebrafish reveal real‐time uptake, mitochondrial localisation, and whilst spectroscopic assays indicated preserved complex ...
Megan J. Green, Michael W. Jones, Merissa Saleem, Haobo Ge, Melita Tvardauskaite, Julia Dudzic, Fernando Cortezon‐Tamarit, Rory L. Arrowsmith, Charareh Pourzand, Gabriele Kociock‐Kohn, Nicholas H. Rees, Jonathan R. Dilworth, Stephen Faulkner, Stanley W. Botchway, David Gurevich, Sofia I. Pascu   +15 more
wiley   +1 more source