Recognizing genetic disease: A key aspect of pediatric pulmonary care
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24706
Abstract: Advancement in technology has improved recognition of genetic etiologies of disease, which has impacted diagnosis and management of rare disease patients in the pediatric pulmonary clinic. This review provides an overview of genetic conditions that… read more here.
Keywords: pediatric pulmonary; disease key; disease; genetic disease ... See more keywords
SU76 INCREASED FREQUENCY OF RARE GENETIC DISEASE VARIANTS IN LARGE SCHIZOPHRENIA, BIPOLAR, AND DEPRESSION POPULATIONS
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.265
Abstract: Background Genetic diseases are individually rare but collectively common. Many genetic conditions can mimic mental health disorders, with psychiatric symptoms that are difficult to treat with regular medications. Treatment of the underlying genetic disease can… read more here.
Keywords: disease; genetic disease; schizophrenia bipolar; genetic diseases ... See more keywords
Detection and impact of genetic disease in a level IV neonatal intensive care unit
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Perinatology"
DOI: 10.1038/s41372-022-01338-0
Abstract: To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care. We divided 2703 neonates, admitted between 2013 and 2016 to a level IV NICU, into… read more here.
Keywords: care; disease level; detection; genetic disease ... See more keywords
Failure to Thrive, Hyponatremia, Hyperkalemia - Differential Diagnostic Reflections of a Rare Genetic Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Klinische Padiatrie"
DOI: 10.1055/a-1031-9679
Abstract: Pseudohypoaldosteronism type I is a rare genetic disease of mineralocorticoid resistance that typically manifests in neonatal age. The patients are diagnosed with failure to thrive, dehydration, polyuria, vomiting, hyperkalemia, hyponatremia as well as potential metabolic… read more here.
Keywords: failure thrive; disease; genetic disease; type ... See more keywords
MecCog: A knowledge representation framework for genetic disease mechanism.
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btab432
Abstract: MOTIVATION Experimental findings on genetic disease mechanisms are scattered throughout the literature and represented in many ways, including unstructured text, cartoons, pathway diagrams, and network graphs. Integration and structuring of such mechanistic information greatly enhances… read more here.
Keywords: mechanism; framework; knowledge; meccog ... See more keywords
High prevalence of familial and genetic disease in children with cardiomyopathies: baseline paediatric data from the ESC EORP Cardiomyopathy and Myocarditis registry
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.2050
Abstract: Previous studies on paediatric cardiomyopathies have provided useful information on their epidemiology and clinical presentation but have been limited by a lack of detailed data on genetic testing and aetiology. The purpose of this study… read more here.
Keywords: genetic testing; dcm; prevalence; disease ... See more keywords
Genetic Analysis for Type 1 Diabetes Genes in Juvenile Dermatomyositis Unveils Genetic Disease Overlap.
Sign Up to like & getrecommendations! Published in 2022 at "Rheumatology"
DOI: 10.1093/rheumatology/keac100
Abstract: OBJECTIVES Juvenile dermatomyositis (JDM) is a serious autoimmune and complex genetic disease. Another autoimmune genetic disease, type 1 diabetes (T1D), has been observed for significantly increased prevalence in families with JDM, while increased JDM risk… read more here.
Keywords: analysis; type diabetes; juvenile dermatomyositis; genetic disease ... See more keywords
High-risk phenotypes of genetic disease in a Neonatal Intensive Care Unit population
Sign Up to like & getrecommendations! Published in 2022 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000001959
Abstract: To the Editor: Genetic diseases contribute to 35% of deaths during the first year of life and are a significant cause of intensive care. A previous study based on the China Neonatal Genomes Project investigated… read more here.
Keywords: intensive care; genetic testing; high risk; care unit ... See more keywords
Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics by Andrew J. Hogan (review)
Sign Up to like & getrecommendations! Published in 2017 at "Bulletin of the History of Medicine"
DOI: 10.1353/bhm.2017.0096
Abstract: Deutsch, in her 1945 The Psychology of Women, proposed that infertility and pregnancy loss were a result of a woman’s conflicted relations with her mother, or of otherwise deranged psychosexual development.2 According to the psychogenetic… read more here.
Keywords: medicine; genetics; genetic disease; life histories ... See more keywords
The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries
Sign Up to like & getrecommendations! Published in 2023 at "PLOS ONE"
DOI: 10.1371/journal.pone.0281215
Abstract: Genetic disease control is generally not given the importance it deserves. Information about what percentage of individuals carry a disorder-causing mutation is crucial for breeders to produce healthy offspring and maintain a healthy dog population… read more here.
Keywords: shepherd dog; dog breed; genetic disease; australian shepherd ... See more keywords
A Treatable Genetic Disease Caused by CAD Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.771374
Abstract: Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss… read more here.
Keywords: cad mutation; disease caused; disease; treatable genetic ... See more keywords