Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.

Background: Nucleotide 1311 polymorphism at exon 11 of G6PD gene is widely prevalent in various populations of the world. The aim of the study was to evaluate 1311 polymorphism in subjects carrying G6PD Mediterranean gene and in general population living in Pakistan.

Results: Patients already known to be G6PD deficient were tested for 563C-T (G6PD Mediterranean) and 1311 C-T mutation through RFLP based PCR and gene sequencing.

Oral iron chelation therapy with deferiprone in patients with Thalassemia Major.

Objective: To determine the efficacy and adverse effects of deferiprone in patients with Thalassemia Major.

Methods: A prospective case series study was conducted at the Fatimid Foundation Blood Bank and Haematological Diseases center Lahore. A total of 87 patients entered into the study between September 2005 and November 2006.

Comparison of quantitative bronchoscopic lavage cultures (B-BAL) with blind NG tube lavage (N-BAL) cultures in the diagnosis of ventilator associated pneumonia (VAP).

Objective: To compare quantitative Bronchoscopic Bronchoalveolar Lavage (B-BAL) cultures with blind nasogastric tube bronchoalveolar lavage (N-BAL) cultures in the diagnosis of Ventilator Associated Pneumonia (VAP).

Study Design: Cross-sectional comparative study.

Place And Duration Of Study: The study was conducted in Medical ICU and Chest ICU at Liaquat National Hospital (LNH), Karachi, from January till August, 2007.

Thirty-four cases of esophageal perforation: the experience of a district general hospital in the UK.

Esophageal perforation is uncommon and traditionally has a high rate of morbidity and mortality. Our aim was to perform a 13-year retrospective review of the cases managed in our district general hospital. Thirty-four cases of esophageal perforation diagnosed between 1995 and 2008 were retrospectively analyzed.

Presentation of a patient with palpable purpuric rash.

Henoch Shonlein purpura (HSP) is a form of systemic vasculitis characterized by deposition of IgA dominant immune complexes in the small vessels. The triad of palpable purpuric rash on lower extremities, abdominal or renal involvement and arthritis is the typical presentation in this condition. The disease primarily affects children and is less common in adults.

External cephalic version with salbutamol - success rate and predictors of success.

Objective: To determine the success rate of External Cephalic Version (ECV) with 0.25 mg Salbutamol in singleton term breech and to identify the predictors of success.

Study Design: Quasi experimental study.

Frequency and clinical spectrum of rare inherited coagulopathies--a tricenter study.

Objective: To determine the frequency of rare inherited coagulopathies at three centers of haematology in Karachi and to study the clinical spectrum and laboratory data of these coagulopathies.

Methods: This was a descriptive study conducted from September 2003 to December 2004 on subjects from Aga Khan University Hospital, Husaini Blood Bank and Fatimid Blood Transfusion Centre. All the subjects with bleeding tendency without any acquired causes of bleeding were selected for further investigation, and were asked relevant questions as present in the questionnaire.

Additional chromosomal abnormalities in Philadelphia-positive chronic myeloid leukemia.

Background And Objective: The emergence of non-random chromosomal abnormalities is a well-recognized occurrence in chronic myeloid leukemia (CML) and detection of these abnormalities is important in prognostic stratification. The frequency and types of additional chromosomal abnormalities in CML patients has not been determined in our region.

Patients And Methods: We conducted a descriptive, prospective study of additional chromosomal abnormalities in patients with an established diagnosis of Philadelphia-positive CML from May 2001 to June 2007.

Identification of hemoglobin Q India (alpha 1-64 Asp-His) through ARMS-PCR. First report from Pakistan.

Various hemoglobinopathies have been reported from Pakistan excepting the rare ones like hemoglobin Q India. Our purpose of study was to identify the mutation (alpha 1 64 aspartate to histidine) through amplification restriction mutation system-polymerase chain reaction (ARMS-PCR) in patients where hemoglobin Q has been detected via high performance liquid chromatography (HPLC) and also to evaluate the cost effectiveness of the two technologies. All patients irrespective of age and gender who underwent HPLC for identification of their hemoglobin variant during January 1, 2006 to January 30, 2007 were studied.

Cryptogenic middle cerebral artery infarction in pure red cell aplasia.

Pure red cell aplasia (PRCA) is a rare hematological disorder characterized by an isolated depletion of erythroid precursors with preservation of other cell lines. Neurological concomitants are not a recognized feature. We report a case of unexplained middle cerebral artery infarction in a 32-year-old woman with PRCA.

Thrombocytosis: age dependent aetiology and analysis of platelet indices for differential diagnosis.

To identify the etiology of thrombocytosis in various age groups and to evaluate the effectiveness of platelet indices in differentiating reactive and clonal thrombocytosis, an observational, prospective review of patients with platelet count of 600 x 10(9)/L or more performed by using coulter counter STKS (Coulter Electronic, Kerfeld, Germany). Extreme thrombocytosis defined as platelet count of 1000 x 10(9)/L or more. Of 1068 patients, 91.

Haemorrhagic manifestations and utility of haematological parameters in dengue fever: a tertiary care centre experience at Karachi.

A retrospective observational study of dengue fever was performed, including 210 patients (male:female ratio 1.6:1, ages 6-74 y, mean 29.7 y) attending the Aga Khan University Hospital, Karachi from January 2001 to December 2006.

Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly.

Background: Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. MCPH leads to reduced cerebral cortical volume and hence, reduced head circumference associated with mental retardation of variable degree. Genetic heterogeneity is well documented in patients with MCPH with six loci known, while pathogenic sequence variants in four respective genes have been identified so far.

Chronic phase chronic myeloid leukemia: response of imatinib mesylate and significance of Sokal score, age and disease duration in predicting the hematological and cytogenetic response.

Objective: To evaluate the response of imatinib mesylate in chronic phase of chronic myeloid leukemia and to observe the significance of Sokal score and various factors which predict the response.

Methods: This was a descriptive, prospective study conducted from May 2001 to September 2006. One hundred and thirty six patients with diagnosis of chronic myeloid leukemia in chronic phase were analyzed.

Pattern of chromosomal abnormalities in adult acute lymphoblastic leukemia.

Objectives: To study the pattern of chromosomal abnormalities in adult patients with acute lymphoblastic leukemia.

Study Design: A retrospective study.

Place And Duration Of Study: January 1998 to June 2005 at the Cytogenetics department, Aga Khan University Hospital, Karachi.

Chronic ITP: analysis of various factors at presentation which predict failure to first line treatment and their response to second line therapy.

Objective: To observe the significance of various factors in chronic idiopathic thrombocytopenic purpura (ITP) which predict the response of first line (corticosteroids) and second line therapy (splenectomy) and to evaluate their response to second line therapy.

Methods: This was a descriptive, prospective study conducted from August 2004 till January 2006. Patients of all age groups and both genders with diagnosis of chronic ITP were included.

Diagnostic importance of bone marrow examination in non-hematological disorders.

Objective: To evaluate the frequency of involvement of bone marrow with non-haematologic disorders and to observe the significance of bone marrow examination in establishing primary diagnosis of the same.

Methods: It was a descriptive study that extended from January 2003 to September 2005. A total of 4569 bone marrow aspirate and trephines were reported during this period.

Cancer profile of Larkana, Pakistan (2000-2002).

This present study was conducted with the objective of providing the cancer profile of Larkana, the fourth largest city of Sindh, Province. The study included two sets of patients. The first set included the incident cancer cases, residents of Larkana, who reached Karachi for diagnosis or treatment.

Cardiac disease in beta-thalassaemia major: Is it reversible?

Introduction: The aim of this study was to evaluate the spectrum of cardiac involvement and its outcome in beta-thalassaemia major.

Methods: There were 75 patients with a mean age of 13.8 (+/- 5.

Waldenstrom's macroglobulinemia terminating in acute myeloid leukemia.

Waldenstrom's macroglobulinemia (WM) is a rare condition, accounting for approximately 2% of haematologic malignancies. The most common causes of death in these patients are progression of the malignant lymphoproliferative process, infection and cardiac failure. Acute leukemia is a rare event in the clinical course of WM.

Clinico-pathologic features of chronic myeloid leukemia and risk stratification according to Sokal score.

Objective: To compile the clinical and haematological parameters of chronic myeloid leukemia (CML) and risk stratification according to Sokal score in our population.

Design: A descriptive analysis.

Place And Duration Of Study: The Aga Khan University Hospital, during the period from August 1997 to August 2005.

Role of ICT malaria immunochromatographic test for rapid diagnosis of malaria.

Objective: To evaluate the sensitivity and specificity of immunochromatographic test (ICT) malaria p.f/p.v using microscopy as the gold standard diagnosis.

A view of HIV--infection in Karachi.

A prospective study on the prevalence of HIV-I infection in Karachi, Pakistan was conducted over a period of six years (1986-1992). Over 15,000 individual samples and more than 32,000 donor units of individuals residing in Karachi at the time of sample collection were tested for HIV-I infection by our screening test EIA which revealed a positivity rate of 0.23% and 0.