Results 111 to 120 of about 728,389 (310)
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
The comparison effect of ondansetron and Metoclopramide in thereducing of nausea and vomitting after loparoscopic cholescistectomy [PDF]
Background: Postoperative nausea and vomiting (PONV) is a side effect of anesthesia. Without prophylactic intervention, PONV by about one-third of patients (10 to 60%) under general anesthesia occurs. PONV consequences include delayed discharge from PACU
انتظاری, مسعود +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
The incidences of nausea and vomiting after general anesthesia with remimazolam versus sevoflurane: a prospective randomized controlled trial [PDF]
Korean Journal of AnesthesiologyBackground Postoperative nausea and vomiting (PONV) refers to nausea and vomiting that occurs within 24-h after surgery or in the post-anesthesia care unit (PACU).
Yeong Min Yoo +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Vestibular-induced vomiting after vestibulocerebellar lesions [PDF]
Vestibular stimulation, by sinusoidal electrical polarization of the labyrinths of decerebrate cats which can produce vomiting and related activity which resembles motion sickness was examined.
Miller, A. D., Wilson, V. J.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta +9 more
wiley +1 more source
Relationship of some risk factors and symptoms in patients with acute coronary syndrome [PDF]
, 2012 Acute coronary syndrome (ACS) is one of the major causes of death in the worldwide. Clinical manifestations are different. So it's necessary to have knowledge about the types of symptoms experienced by patients with ACS. This study was performed to assay
Afshar, M.H. +7 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source