objectiveglutaric aciduria type 1 (gal 1) is a cerebral organic academia, which manifests as encephalopathy with long-term neurological handicap. in this study, clinical presentation, neuroimaging, molecular finding of cgdh mutation of our patients were reviewed.materials and methodsthis was a descriptive and cross-sectional study. patients in whom gla1 were suspected by clinical manifestation,...

major salivary gland tumors are uncommon and the exact nature of these tumors is not obvious. this study was carried out to compare the histological results of intraoperative frozen sections against those of permanent reports for major salivary glands masses. one hundred thirty-nine patients with major salivary gland masses who were candidates for surgery underwent an intraoperative frozen sect...

background and aims. reactive hyperplasias (rhs) are common oral mucosal lesions caused by irritation of the mu-cosa. the aim of this study was to evaluate the frequencies of various types of oral rhs in a university clinic. materials and methods. oral rh cases, undergone biopsy in a four-year period, were studied retrospectively. data including age and gender as well as the location and clinic...

background in 1996, donovan and colleagues represented a scoring system for better prediction of hirschsprung disease (hd). objectives our objective was to devise another scoring system that uses a checklist of radiologic and clinical signs to determine the probability of hd in suspicious patients. patients and methods in a diagnostic accuracy study, 55 children with clinical manifestations of ...

factor v (fv) deficiency is a rare bleeding disorder (rbd) that inherit in autosomal recessive manner. diagnosis of fv deficiency (fvd) is made by routine coagulation tests, fv activity and molecular analysis. in patients with fvd, routine coagulation tests including activated partial thromboplastin time (aptt), prothrombin time (pt) and evenbleeding time (bt) are prolongedwhile thrombin time (...

in endemic area the most challenging problem for brucellosis is to find a reliable diagnostic method. in this case-control study, we investigated the accuracy of elisa test for diagnosis of human brucellosis and determined the optimal cut-off value for elisa results in iran. the laboratory diagnosis of brucellosis was performed by blood isolation of brucella organism with a bactec 9240 system a...

background evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. objectives the aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. patients and methods this prospective study was conducted on 171 volunteer pregnant women between march 2013 and december 2014. measurements of the feta...

echocardiography is a non-invasive diagnostic technique which provides information regarding cardiac function and hemodynamics. it is the most frequently used cardiovascular diagnostic test after electrocardiography and chest x-ray. however, in a patient with acute chest pain, transthoracic echocardiography is essential both for diagnosing acute coronary syndrome, zeroing on the evaluation of v...

background: early detection of proneness to hypertension may help an individual to lead a healthy life by altering the life style. subjects having the predisposing factors of hypertension tend to show higher and prolonged responsiveness to blood pressure following stress. methods: normotensive, non-smoking healthy sedentary male students and staff of nepal medical college (n=50, age group 18-35...

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