Fatima F. Rahman

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Warburg Micro syndrome and Martsolf syndrome are heterogenous autosomal-recessive developmental disorders characterized by brain, eye, and endocrine abnormalities. Previously, identification of mutations in RAB3GAP1 and RAB3GAP2 in both these syndromes implicated dysregulation of the RAB3 cycle (which controls calcium-mediated exocytosis of(More)
Major dengue epidemics have been observed in the Indian subcontinent since the 1980s and have occurred with increased hospitalizations and mortality. In 2011, the first major epidemic of dengue occurred in Lahore, the second largest city in Pakistan, and resulted in 21,685 confirmed cases and 350 deaths. To investigate the possible viral causes for the(More)
The molecular genetic diagnosis of inherited metabolic disorders is challenging. The diseases are rare, and most show locus heterogeneity. Hence, testing of the genes associated with IMDs is time consuming and often not easily available. We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To(More)
The epileptic encephalopathies of infancy and childhood are a collection of epilepsy disorders characterized by refractory, severe seizures and poor neurological outcome, in which the mechanism of disease is poorly understood. We report the clinical presentation and evolution of epileptic encephalopathy in a patient, associated with a loss-of-function(More)
OBJECTIVE To investigate the usefulness of stress testing before discharge in patients assessed low to intermediate risk of acute coronary syndrome (ACS). METHODS A prospective observational study was undertaken of patients presenting to the ED with suspected myocardial ischaemia. After negative initial electrocardiogram (ECG) and serum troponin testing,(More)
Improvements in pre-hospital care and the development of integrated Trauma Systems have streamlined access for the severely injured to sophisticated, specialist Trauma Centre reception and resuscitation. We describe the initial care of a survivor of combined ruptures of the left ventricle and left atrium secondary to blunt injury. This case emphasises the(More)
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