Results 71 to 80 of about 108,295 (312)
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
Study on Carbamazepine induced electrocardiographic, blood pressure and echocardiographic changes in the dog [PDF]
Āsīb/shināsī-i Darmāngāhī-i Dāmpizishkī, 2019 Carbamazepine is used as an anticonvulsant drug in the treatment of simple slight convulsion and generalized tonic-clonic, trigeminal neuralgia, and also as preventive agent in manic depressive.
R Kaffash Elahi +3 more
doaj
Bilateral coronary-pulmonary fistulae, diagnosed by transoesophageal echocardiogram
, 2010 Bilateral coronary artery fistulae to pulmonary artery is a rare condition.
Kadappu, Krishna Kishor +7 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Echocardiogram : left ventricle chamber detection using image processing [PDF]
, 2012 The left ventricle is one of the four chambers in the human heart. It receives oxygenated blood from the left atrium through the mitral valve and pumped into the aorta through the aorta valve.
Thoiebah, Ahmad Mukhtar
core
Arthritis &Rheumatology, EarlyView.Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu +12 more
wiley +1 more source
Foetal echocardiographic segmentation
, 2010 Congenital heart disease affects just under one percentage of all live births [1]. Those defects that manifest themselves as changes to the cardiac chamber volumes are the motivation for the research presented in this thesis. Blood volume measurements
Dindoyal, I.
core
, 2023 A 70-year-old man with history of transcatheter aortic valve-in-valve implantation was admitted because of suspected infective endocarditis (IE).
Ole De Backer +7 more
core +1 more source