Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The genetic background of severe early-onset obesity is still incompletely understood. Deletions at 2p25.3 associate with early-onset obesity and variable intellectual disability. Myelin-transcriptor-factor-1-like (MYT1L) gene in this locus has been proposed a candidate gene for obesity. We report on a 13-year-old boy presenting with overweight already at 1 year of age (body mass index [BMI] Z-score +2.3) and obesity at 2 years of age (BMI Z-score +3.8). The patient had hyperphagia and delayed neurological, cognitive and motor development. He also had speech delay, strabismus, hyperactivity and intellectual disability. Brain MRI was normal. The parents and sister had normal BMI. Whole-genome sequencing identified in the index patient a novel de novo frameshift deletion that introduces a premature termination of translation NM_015025.2(MYT1L): c.2215_2224delACGCGCTGCC, p.(Thr739Alafs*7) in MYT1L. The frameshift variant was confirmed by Sanger sequencing. Our finding supports the association of MYT1L mutations with early-onset syndromic obesity. The identification of novel monogenic forms of childhood-onset obesity will provide insights to the involved genetic and biologic pathways.
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PMID:A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability. 3005 78

Two pet rabbits were presented with an acute decrease in appetite and activity. Rabbit 1 showed severe hypothermia, bradycardia, arrhythmias, a heart murmur, dyspnea, occlusion of the nares with secretions, icterus, dehydration, and gaseous gastrointestinal dilation. The urine was dark yellow. Rabbit 2 was overweight, apathetic, and dehydrated; this animal presented with a heart murmur, gastric dilation, and intermittent nystagmus with dorsal strabismus in the right eye. Blood gas, electrolyte, hematology, plasma clinical biochemistry analysis, coagulation profile, plasma protein electrophoresis, urinalysis, and radiographic examinations were performed. The main shared findings were moderate thrombocytopenia, markedly decreased aspartate aminotransferase and alanine aminotransferase activities and fibrinogen concentrations, prolonged prothrombin and activated partial thromboplastin times, profoundly increased alkaline phosphatase and gamma-glutamyl transferase (GGT) activities, and high bile acid and bilirubin concentrations. Rabbit 1 also had respiratory acidosis, marked hypoglycemia, hyperphosphatemia, and a profoundly increased creatine kinase activity. Gastric dilation was observed on both radiographic exams. A low urinary pH of 5-6, marked bilirubinuria and proteinuria, and high urinary GGT levels were present in both patients. Marked icterus developed before death, which occurred within 22 and 30 hours post admission in rabbits 1 and 2, respectively. The necropsy of rabbit 1 showed a markedly accentuated hepatic lobular pattern, pulmonary hemorrhages, pericardial effusion with adhesions, peritoneal petechiae, and icteric and hemorrhagic abdominal fat. Histopathologic findings included hemorrhagic diathesis, severe centroacinar and midzonal hepatocellular necrosis, severe necrosuppurative bronchopneumonia, and moderate cardiomyocyte necrosis. A liver PCR assay was positive for Rabbit Hemorrhagic Disease Virus (RHDV) 2 (RHDV2) and negative for classic RHDV. This is the first description of the gross clinicopathologic abnormalities associated with naturally occurring RHDV2 infection in pet rabbits.
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PMID:Clinicopathologic findings of naturally occurring Rabbit Hemorrhagic Disease Virus 2 infection in pet rabbits. 3086 86