Ghayas Usmani

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Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory disorder resulting from immune dysfunction reflecting either primary immune deficiency or acquired failure of normal immune homeostasis. Familial HLH includes autosomal recessive and X-linked disorders characterized by uncontrolled activation of T cells and macrophages and overproduction of(More)
BACKGROUND Children with chronic conditions often have complex medication regimens, usually administered at home by their parents. OBJECTIVE To describe the types of medication errors in the homes of children with chronic conditions. METHODS Our home visit methods include direct observation of administration, medication review and prescription dose(More)
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which(More)
OBJECTIVES To evaluate the role of iodine-131 metoiodobenzylguanidine (iodine-131 MIBG) scanning in the management of paediatric patients with neuroblastoma. SUBJECTS AND METHODS Forty-three iodine-131 MIBG scans were performed on 26 children, 18 male and 8 female, ranging in age from 8 months to 11 years. Bone scan, computed tomography (CT) images and(More)
PURPOSE Outpatients with cancer receive complicated medication regimens in the clinic and home. Medication errors in this setting are not well described. We aimed to determine rates and types of medication errors and systems factors associated with error in outpatients with cancer. METHODS We retrospectively reviewed records from visits to three adult and(More)
With 90% of world children living in developing countries and a rising cancer incidence, the third world bears the greatest burden of pediatric cancer. Pediatric cancers today are highly treatable, but 80% of children with malignancies die because they live in the developing countries where access to medical care is inadequate. Pediatric cancer care is(More)
An increasing number of risk-stratifying genetic lesions in acute leukemia are being discovered and characterized. To translate this important and increasing volume of information from the research laboratory into effective clinical care, however, new, fast and comprehensive assays are needed. Toward this end, we have developed a two-stage multiplexing(More)
A 10-year-old boy presented with features of Cushing's syndrome. Investigations, including ultrasound scan and computed tomography scans, demonstrated a right adrenal tumor. The tumor was excised and histologically found to be an encapsulated adrenal adenoma. Surgical excision is the treatment of choice for adrenal tumors. However, because it is often(More)
Hemophagocytic lymphohistiocytosis (HLH) is a rare histiocytic reactive process due to mutations in the perforin, MUNC13-4 or syntaxin 11 genes, or secondary to malignancy, infection or autoimmune disorder. HLH as a preceding diagnosis to leukemia is rare. We report two cases with progression to acute leukemia, one heterozygous for MUNC13-4 and the other(More)
We examined 548 healthy neonates and infants to document the frequency, size, and location of palpable lymph nodes. The subjects consisted of 214 neonates from birth to 4 weeks of age and 334 infants from 4 weeks to 1 year of age. All of the infants were asymptomatic and had been free of major or minor systemic or cutaneous infections in the past. Of the(More)