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Journals and Conferences
INTRODUCTION Peroxisomal disorders are subdivided into peroxisome biogenesis disorders (PBDs) and single peroxisomal enzyme deficiency. Many peroxisomal diseases exhibit excessive oxidative stress, leading to neurological alterations and dysfunction. Peroxisomes use oxygen in oxidative reactions that generate hydrogen peroxide. This study aimed to… (More)
OBJECTIVE In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period… (More)
Tuberculosis involving the endocardium is extremely rare. The diagnosis is usually made during autopsy. Often there is involvement of other parts of the heart as well as other regions of the body. The infection is a result of direct extension from the myocardium or hematogenous spread. Two cases of disseminated tuberculosis with endocardial involvement are… (More)
Cognitive impairment has been reported to occur in minor head injury (concussion). The value of the P300 evoked potential as a measure of cerebral concussion was studied in 20 patients with minor head injury and compared with the data from 20 normal subjects. Significant abnormalities of the P300 latency and amplitude were noted in these patients in the… (More)
A patient had severe, episodic hypoglycemia with a mass occupying almost the entire left hemithorax. This mass was initially thought to be an inoperable intrathoracic malignant neoplasm. The findings during operation and the histologic appearance, however, were of a unique, localized benign mesothelioma.
A 71 year-old woman with a large tumor of the upper lobe of the left lung was diagnosed as having metastatic adrenal cortical carcinoma nine years after the initial adrenalo-nephrectomy. The patient was well with no recurrence for six years following resection of the single lung metastasis.
OBJECTIVES To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children's Hospital for the same disorders over the… (More)
OBJECTIVE To describe the spectrum, relative prevalence and molecular background of lysosomal storage disorders in Egypt. METHODS The authors evaluated the selective screening program for the diagnosis of lysosomal storage disorders in Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children's Hospital, the largest… (More)