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Classic Virilizing Congenital Adrenal Hyperplasia Presenting Late: Case Series From Pakistan, Aysha Habib Khan, Muniba Aban, Rameez-Ul-Hassan, Naeem-Ul-Haq, Jamal Raza, Abdul Jabbar, Tariq Moatter

Department of Pathology and Laboratory Medicine

Deficiency of 21 hydroxylase enzyme deficiency (21OH) activity accounts for 90% cases of congenital adrenal hyperplasia (CAH). This results in deficient cortisol, increased ACTH, adrenal hyperplasia and increased adrenal androgen secretion. There is marked virilization in genetic females which is the hallmark of this disorder. Genetic heterogeneity in 21 OHD is well recognized, and both severe and mild forms occur. We present three cases of adult females with the disease from a larger study to establish genotype, phenotype correlation of Pakistani patients with congenital adrenal hyperplasia (CAH) and to highlight issues such as diagnostic delay, inappropriate gender assignment at birth, …

Population Study Of 1311 C/T Polymorphism Of Glucose 6 Phosphate Dehydrogenase Gene In Pakistan - An Analysis Of 715 X-Chromosomes., Bushra Moiz, Amna Nasir, Tariq Moatter, Zulfiqar Ali Naqvi, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

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. A control group not known to be G6PD deficient was tested for 1311C/T only.C-T transition at nt 1311 was detected in 60/234 X-chromosomes with 563 C-T mutation (gene frequency of 0.26) while in …

Evaluation Of Two Elisa Assay Kits Against Rt-Pcr For Diagnosis Of Dengue Virus Infection In A Hospital Setting In Karachi, Pakistan, Erum Khan, Vikram Mehraj, Amna Nasir, Nabil Ahmad Khan, Bushra Billoo, Tariq Moatter, Rumina Hasan

Department of Pathology and Laboratory Medicine

OBJECTIVE: To evaluate two commercially available ELISA-based kits against RT-PCR for the diagnosis of dengue virus infection in a Tertiary Care center in Karachi.METHODS: During the 2006 Dengue outbreak, sera were collected from patients clinically classified as dengue fever and graded according to WHO grading. Out of these, 83 samples were selected randomly and analyzed using two different commercial kits (PanBio versus Calbiotech) and were compared with RT-PCR. Clinical charts of the inpatients were also reviewed. Statistical significance was considered at P < or = 0.05.RESULTS: Clinically, a total of 29 (69%) in-patients were diagnosed with dengue haemorrhagic fever, the remaining 13 (30.9%) were diagnosed as dengue fever. Diagnostic PCR was positive in 73 (87.9%) of the total 83 patients. PanBio capture ELISA had a sensitivity of 83.5%. Calbiotech on the other hand, had a sensitivity of 50.7%. The association of PanBio assay with PCR was found to be statistically significant (p

Oral Iron Chelation Therapy With Deferiprone In Patients With Thalassemia Major, Raihan Sajid, Farooq Ghani, Salman Adil, Mohammad Khurshid

Department of Pathology and Laboratory Medicine

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. Deferiprone was given at subsidized rates at a dose of 75/mg/day for seven days. Physical examination and initial Laboratory investigations were done in all patients at the start of the study. Physical and laboratory data were filled on a questionnaire and analyzed using SPSS version 10.0.

RESULTS: Eighty seven patients with …

The Frequency Of Heparin Induced Thrombocytopenia In Patients Undergoing Elective Cardiac Bypass Surgeries, Natasha Bahadur Ali, Bushra Moiz, Yasmin Rehman, Mohammad Salman, Shahid Ahmed Sami

Department of Pathology and Laboratory Medicine

Objective: To determine the frequency of Heparin Induced Thrombocytopenia (HIT) in patients undergoing elective cardiac bypass surgeries and to observe the platelets evolution post surgically in these patients.
Method: A prospective study was designed and 100 unselected consecutive patients undergoing elective cardiac bypass surgery were enrolled and evaluated. The clinical and laboratory details were noted before and after surgery. Their platelet counts were observed from day 0 (prior to surgery) to day 5 post operatively. Particle gel immunoassay was used to demonstrate the presence of antibodies against heparin-platelet factor 4 complexes.
Results: There were 86 males and 14 females with …

Esat6-Induced Ifngamma And Cxcl9 Can Differentiate Severity Of Tuberculosis., Zahra Hasan, Bushra Jamil, Mussarat Ashraf, Muniba Islam, Muhammad S Yusuf, Javaid A Khan, Rabia Hussain

Department of Pathology and Laboratory Medicine

Background: Protective responses against Mycobacterium tuberculosis are dependent on appropriate T cell and macrophage activation. Mycobacterial antigen six kDa early secreted antigenic target (ESAT6) and culture filtrate protein 10 (CFP10) can detect M. tuberculosis specific IFNgamma responses. However, most studies have been performed in non-endemic regions and to study pulmonary tuberculosis (PTB). We have studied ESAT6 and CFP10 induced cytokine and chemokines responses in PTB and extrapulmonary (EPul) TB.
Methodology: IFNgamma, IL10, CXCL9 and CCL2 responses were determined using an ex vivo whole blood assay system in PTB (n = 30) and EPulTB Patients with limited (LNTB, n = …

Cytokine Gene Polymorphisms Across Tuberculosis Clinical Spectrum In Pakistani Patients., Ambreen Ansari, Najeeha Talat, Bushra Jamil, Zahra Hasan, Tashmeem Razzaki, Ghaffar Dawood, Rabia Hussain

Department of Pathology and Laboratory Medicine

Background:Pakistan ranks 7(th) globally in terms of tuberculosis (TB) disease burden (incidence 181/100000 pop./yr, prevalence of 329/pop./yr). Reports from different populations show variable associations of TB susceptibility and severity with cytokine gene polymorphisms. Tuberculosis clinical severity is multi-factorial and cytokines play a pivotal role in the modulation of disease severity. We have recently reported that the ratio of two key cytokines (IFNgamma and IL10) show significant correlation with the severity spectrum of tuberculosis. The objective of the current study was to analyze the frequency of cytokine gene polymorphisms linked to high and low responder phenotypes (IFNgamma +874 T(hi)-->A(lo) …