Genética Humana

HEREDITARY HEMORRHAGIC TELANGIECTASIA
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited disorder of the vascular system. It is usually asymptomatic but when symptomatic most common presentation is epistaxis. It can involve any organs of the body like lungs, skin, liver brain, GI mucosa etc. We are reporting a case of HHT presented to us with dyspnea and severe anemia. He had arteriovenous malformations of different visceral organs and telangiectasia of skin along with presence of similar history in first-degree relatives.

Kaushik Saha
Burdwan, In

  
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CLINICAL FEATURES AND MRI CHANGES IN DRUG-NAÏVE NEUROLOGIC WILSON’S DISEASE
Dystonia, dysarthria and tremor are common neurological features of neurologic Wilson’s disease. Abnormalities in MRI of brain are observed in all patients and these abnormalities are positively correlated with disease severity. The diffusion restriction is inversely correlated with the disease duration. MR Spectroscopy is also a sensitive tool for the diagnosis.

Satyabrata Pulai
Kolkata, In

  
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ALTERED SUBCELLULAR DISTRIBUTION OF DISC1, CAMP LEVELS, AND NEURONAL MIGRATION IN SCHIZOPHRENIA AND BIPOLAR DISORDER
DISC1 (disrupted-in-schizophrenia-1) is considered a genetic risk factor for neuropsychiatric disorders. In this study, analysis in human olfactory neuronal precursors of schizophrenia and bipolar disorder patients showed decreased DISC1 levels in the cytoplasm, cAMP accumulation and diminished cell migration. The results suggest that these disorders share common molecular pathways that could hinder the neurodevelopmental process.

Jesús Muñoz-Estrada
México, México

     
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  HANDLING OF TOBACCO DUST MAY CAUSE GENOTOXICITY IN BIDI ROLLERS
Bidi is a cheap Indian alternative to cigarette . Bidi rolling is a common cottage industry in which poor women work, mostly in inadequately ventilated conditions. The study explains the genotoxicity in bidi rollers occupationally exposed to tobacco dust. The chromosome aberrations and comet lengths in blood cells of rollers were found to be significantly higher than controls and the increase was proportional to the duration of exposure.

Asha Khanna
Jabalpur, In

  
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acceso_libre_20171204.png CIRCULAÇÃO DO VÍRUS DA ENCEFALITE DE SAINT LOUIS DURANTE EPIDEMIA DE DENGUE EM MATO GROSSO, BRASIL
O vírus da encefalite de Saint Louis genótipo V-A foi identificado em três pacientes co-infectados com o vírus da dengue 4, um deles também com o vírus da dengue 1, e em uma fêmea de Culex quinquefasciatus na cidade de Cuiabá, capital do estado de Mato Grosso, Centro-Oeste do Brasil.

Renata Dezengrini Slhessarenko
Cuiabá, Brasil

  
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