Role of TMPRSS6 rs855791 (T > C) polymorphism in reproductive age women with iron deficiency anemia from Lahore, Pakistan.

BACKGROUND: Iron deficiency anemia (IDA) is the highest nutritional deficiency worldwide. It is a multifactorial disease, with a higher morbidity rate. TMPRSS6 polymorphisms importantly rs855791 is found to play an essential role in iron homeostasis in the human body. The rs855791 (T > C) polymorphism is highly associated with iron levels, and multiple blood parameters, leading to IDA. The role of TMPRSS6 rs855791 polymorphism and the significance of complete blood count (CBC) parameters in the pathogenesis of IDA is not yet studied in the Pakistani population. METHODS: We enrolled 113 cases and 136 controls to conduct a case control study. Complete blood count (CBC) and iron parameters were analyzed for association studies. PCR-RFLP based genotyping was performed. RESULTS: The TMPRSS6 rs855791 (T > C) polymorphism is significantly associated with IDA pathogenesis as observed in the codominant model and recessive models (P < 0.05, OR: 1.5 and 95% CI: 0.9, 2.6, P < 0.05, OR: 0.5 and 95% CI: 0.2, 0.9 respectively). Elderly women among cases (30-49 years) were found to be more susceptible to IDA (P < 0.05, AOR: 2.1 and 95% CI: 1.0, 4.2). The most significant parameters associated with IDA were red blood cell count (RBC) and hematocrit (Hct%) (P < 0.05, AOR: 16.5, 95% CI: 7.6, 35.9 and P < 0.05, AOR: 10.1, 95% CI: 2.5, 41.6, respectively). CONCLUSION: TMPRSS6 polymorphism at rs855791 (T > C) is significantly associated with IDA susceptibility in reproductive age women in Pakistan. Age, RBC count and Hct% are found to play an important role in IDA pathogenesis in our study population.

GeneXpert Technology for the diagnosis of HIV-associated tuberculosis: Is scale-up worth it?

Recent evaluations of the GeneXpert MTB/RIF assay for the simultaneous detection of Mycobacterium tuberculosis and drug resistance in less than 2 h have stimulated tremendous enthusiasm. This is the breakthrough that tuberculosis (TB) control has been waiting for. In this (retrospective review) case study, sputum samples from strongly suspected pulmonary tuberculosis patients were collected and assessed for the GeneXpert MTB/RIF assay for diagnosing TB and drug resistance in comparison with other tests, including Ziehl-Neelsen smear and Löwenstein-Jensen test. Of 3,784 cases, 5.7% (216/3,784) were human immunodeficiency virus (HIV)-positive and TB co-infected patients. In diagnosing HIV-positive and TB co-infected cases, the sensitivity and specificity of GeneXpert were 76.4% and 100%. While in HIV-negative and TB suspected cases, the sensitivity and specificity were 95.6% and 100%. This new test represents a major milestone for global TB diagnosis and care. It also represents new hope for the millions of people who are at the highest risk of TB and drug-resistant disease. GeneXpert is World Health Organization-endorsed technology representing the gold standard for TB testing despite attaining less sensitivity for HIV and TB co-infected patients as compared to HIV-negative patients.

Silent killers: Transfusion Transmissible Infections-TTI, among asymptomatic population of Pakistan.

OBJECTIVE: To analyse transfusion transmissible infections in asymptomatic population. METHODS: This study was conducted at the Allama Iqbal Medical College and Jinnah Hospital, Lahore, Pakistan, from December 2014 to November 2015, and comprised healthy asymptomatic blood donors.Every sample was screened for the presence of antibodies/antigens of hepatitis C virus, human immunodeficiency virus, treponemapallidum, hepatitis B virus and malaria parasite through rapid immunochromatographic technique. RESULTS: Of the 18,274 blood donors, 17,276(94.53%) were found healthy and 998(5.46%) were infected. Besides, 71(0.38%) had multiple infections. The overall frequency of anti-hepatitis C virus, treponemapallidum (syphilis), hepatitis B surface antigen, malaria parasite and anti-human immunodeficiency virus was 480(2.62%), 284(1.55%), 210(1.10%), 20(0.10%) and 4(0.02%), respectively. CONCLUSIONS: Blood transfusion was found to be a significant but preventable mode of spread of transfusion transmissible infections.

Risk factors among HIV positive/AIDS patients: a prospective study at a tertiary care referral centre.

BACKGROUND: HIV/AIDS is a global problem, South Asia and Africa bearing the maximum burden. The incidence is reported to be rising in Pakistan. It is important to document the prevalence of various risk factors in our population so that appropriate measures could be taken for preventing emergence of new cases. Objectives were to identify the possible etiological factors/high risk behaviour in cases diagnosed as HIV/AIDS presenting at a tertiary care referral centre. METHODS: Prospective observational case series carried out over a one year period at HIV/AIDS referral centre at Allama Iqbal Medical College Lahore. Five hundred patients were included who were positive for HIV on screening devices and then confirmed by ELISA. All these patients were referrals from Punjab AIDS control programme (PACP). A detailed history was taken on a pre-designed Performa specially targeted to identify the known risk factors for HIV infection. RESULTS: Five hundred HIV positive subjects diagnosed by screening device and confirmed on ELISA were included in the present study. Three hundred and fourteen (63%) were males and 186 (37%) were females. Mean age was 35 +/- 12 years. Most prevalent risk factor among these patients was sexual transmission followed by intravenous drug abuse, injections from substandard health facilities, and transmission from infected spouse. CONCLUSION: HIV/AIDS is a preventable disease if the risk factors are avoided. Community awareness for unsafe homo and heterosexual practices and discouraging visits to non qualified health practitioners should be the top priority by PACP apart from controlling the IDUs menace.