Results 121 to 130 of about 478,346 (392)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
Eosinophilic otitis media a literature review [PDF]
, 2013 Eosinophilic otitis media is actually a recent introduction. These patients may manifest with sudden hearing loss. There may be associated bronchial asthma and allergic rhinitis. Diagnostic criteria of this condition are rather vague.
Thiagarajan, Balasubramanian
core +1 more source
Ibom Medical JournalBackground: Pericardial effusion is defined as the accumulation of fluid in the pericardial sac, this can lead to life-threatening cardiac complications if not promptly diagnosed and managed effectively. This radiographic case study aims to demonstrate the crucial role of imaging techniques in diagnosing pericardial effusion, providing valuable ...
openaire +3 more sources
Efficacy and Safety of Talc Pleurodesis for Malignant Pleural Effusion: A Meta-Analysis
PLoS ONE, 2014 Background Talc pleurodesis has been widely used to control malignant pleural effusion; however, it is still not clear whether talc pleurodesis is more effective than other local therapies. We performed a meta-analysis to evaluate the efficacy and safety
Huan Xia +4 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit +16 more
wiley +1 more source
Building Disease Detection Algorithms with Very Small Numbers of Positive Samples
, 2018 Although deep learning can provide promising results in medical image analysis, the lack of very large annotated datasets confines its full potential.
DJ Penny +5 more
core +1 more source
Cats with thermal burn injuries from California wildfires show echocardiographic evidence of myocardial thickening and intracardiac thrombi. [PDF]
, 2020 Recent increases in the prevalence and severity of wildfires in some regions have resulted in an increased frequency of veterinary burn patients. Few studies exist regarding diagnostics and management of burn wounds in veterinary patients and current ...
Epstein, Steven E +4 more
core
Diagnostic Tools of Pleural Effusion
Tuberculosis and Respiratory Diseases, 2014 Pleural effusion is not a rare disease in Korea. The diagnosis of pleural effusion is very difficult, even though the patients often complain of typical symptoms indicating of pleural diseases.
M. Na
semanticscholar +1 more source
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
High Prevalence of Tuberculosis among Adults with Fever Admitted at a Tertiary Hospital in North-western Tanzania [PDF]
, 2012 Tuberculosis is a leading cause of death in developing countries where HIV is endemic. This hospital based study was done to estimate the magnitude of pulmonary and extra-pulmonary tuberculosis and to determine predictors of tuberculosis among febrile ...
Kabangila, Rodrick +4 more
core +2 more sources