Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypoplastic coronary artery disease (HCAD) is a rare condition that may lead to myocardial infarction (MI) and sudden death. We discovered HCAD in a young man who developed chest pain after heavy drinking and who was found to have suffered an MI. His ECG showed ST-segment elevation with Q waves in the anterior leads, and echocardiography revealed apical dyskinesia with moderate left ventricular (LV) dysfunction. Coronary angiography showed hypoplasia of the left anterior descending (LAD) artery. (99m)Tc-tetrofosmin-gated myocardial perfusion scintigraphy showed a large, fixed perfusion defect in the anteroseptal and apical segments. Sixty-four-slice cardiac CT and cardiac MR imaging demonstrated thinning of the apical wall with calcification and delayed enhancement, supporting the diagnosis of long-standing MI. The patient was discharged symptom-free on medication for ischemic heart failure two weeks after admission. Although HCAD is very uncommon, it should be considered in children and young adults who suffer MI or sudden cardiac death.
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PMID:Myocardial Infarction in a Young Man due to a Hypoplastic Coronary Artery. 1994 6

The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Sequencing and analysis of RPGR variants in ORF15 is challenging, as it is highly repetitive and rich in purines. Overlapping reading frames and polymorphic insertions / deletions add further complexity to the detection of mutations. Identifying systemic manifestations in affected males and carrier phenotype in related females expedites confirmation of pathogenic variants. The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. Multimodal imaging found peripheral thinning of the retina and a characteristic foveal hyperautofluorescent ring in the proband, and a carrier phenotype in the asymptomatic mother. A novel c.1059_1059+2delGGT, p.(?) variant in RPGR was identified as hemizygous in the affected boy and heterozygous in his mother. This case study expands the genotypic spectrum of RPGR variants associated with systemic manifestations. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:548-552.].
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PMID:Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa. 3002 Oct 45


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