The Connotation of Variances in the Risk Predictors, Medications, Homocysteine, and Homocysteine Pathway Gene Polymorphisms with CVA/Stroke.

Cerebrovascular accidents (CVAs) are vascular multifactorial, multigenic ailments with intricate genetic, environmental risk influences. The present study aimed to establish affiliation of CVAs/stroke with blood parameters, differences in prescribed drugs consumption, and with differences in homocysteine pathway genes polymorphisms. The participants in study included controls n = 251, transient ischemic attack (TIA) patients n = 16, and stroke cases n = 122, respectively, (total participants, n = 389). The analyzed single nucleotide polymorphisms (SNPs) included C677T(rs1801133), A1298C(rs1801131) of methylene tetrahydrofolate reductase ( MTHFR ), A2756G(rs1805087) of methyl tetrahydrofolate homocysteine methyltransferase/methionine synthase ( MS ), and the A192G(rs662) of paraoxonase 1( PON1 ) genes, all validated by tetra-primer allele refractory mutation system polymerase chain reaction (T-ARMS-PCR). The insertion deletion (I/D; rs4646994) polymorphism in angiotensin converting enzyme ( ACE ) gene was analyzed using routine PCR. All studied traits were scrutinized through analysis of variance (ANOVA), and later through regression analysis. Through ANOVA and multiple comparison, there was association of CVA with serum homocysteine, cholesterol, and with diastolic blood pressure readings. When data was subjected to regression, serum homocysteine and diastolic blood pressure (significant through ANOVA), as well as two additional traits, high-density lipoproteins (HDL), and rs1801133 MTHFR SNP sustained statistical significance and noteworthy odds in relation to CVA and stroke. The ailments affecting cerebral vasculature are mutifactorial, whereby genes, proteins, and environmental cues all exert cumulative effects enhancing CVA risk. The current study emphasizes that SNPs and variation in circulating biomarkers can be used for screening purposes and for reviewing their effects in stroke/CVA-linked risk progression.

The communal relation of MTHFR, MTR, ACE gene polymorphisms and hyperhomocysteinemia as conceivable risk of coronary artery disease.

Homocysteine and its modulating genes have strongly emerged as novel biomarkers for coronary artery disease (CAD). In the present study, we investigated whether polymorphisms in homocysteine pathway genes and the plasma levels of homocysteine, folate, and vitamin B12, independently or in combination, are associated with CAD risk. A total of 504 participants were recruited (cases, n = 254; controls, n = 250, respectively). Tetra primer allele refractory mutation system polymerase chain reaction (PCR) was used for resolving the genotypes of 5'10' methylenetetrahydrofolate reductase 'MTHFR' polymorphisms (rs1801133, rs1801131), 5' methyl tetrahydrofolate homocysteine methyltransferase 'MTR' polymorphism (rs1805087), paroxanse1 'PON1' polymorphism (rs662), and cystathionine beta synthase 'CBS' polymorphism (rs5742905). Conventional PCR amplification was carried out for resolving angiotensin converting enzyme 'ACE' insertion/deletion (I/D) polymorphism (rs4646994). ANOVA analysis, adjusted for the covariates, revealed that rs1801133, rs1805087 polymorphisms and homocysteine levels were associated with CAD. Logistic regression analysis (adjusted) revealed similar findings. Logistic regression analysis after applying factorial design to the studied single nucleotide polymorphisms (SNPs) revealed that homocysteine levels and heterozygous and mutant alleles at rs1801133, rs1805087, along with mutant alleles at rs1801131, rs4646994, conferred higher risk for CAD. Our results provide insight into the multifactorial nature of coronary artery disease. We highlight that SNPs in folate pathway genes and homocysteine have role in disease causation and can be used in disease prediction strategies.

Assessment of metered dose inhaler technique in patients with chronic lung disease at government hospitals of Rawalpindi.

BACKGROUND: Metered dose inhalers (MDIs) are an affective modality of treatment for fast relief from asthma flare-ups and other symptoms, and are often used by asthmatic athletes. It has got lots of benefits and some drawbacks depending on usage technique. With proper technique and training drawbacks can be minimised. The objective of this study was to assess the metered dose inhaler technique in patients with chronic lung disease at government hospitals of Rawalpindi. METHODS: A cross-sectional study was conducted in three government hospitals of Rawalpindi. The inhalation technique was assessed in six steps. RESULTS: Clear evidence showed that only 24% patient could perform all the steps correctly. Percentages of people that followed individual steps properly were: preparation (87.5%), exhalation (53.85%), lip closure (68.27%), inhalation (56.73%), breath-holding (27.88%) and puff interval (36.54%). CONCLUSION: This study showed that a number of patients in government hospitals of Rawalpindi were unable to use metered-dose-inhaler properly and therefore indicates the need to make people aware of this technique either by counselling or arranging seminars.

Crimean-Congo hemorrhagic fever outbreak in Rawalpindi, Pakistan, February 2002: contact tracing and risk assessment.

A 25-year-old woman, later identified as index case of Crimean-Congo hemorrhagic fever (CCHF), presented to Holy Family Hospital in Rawalpindi, Pakistan with fever and generalized coagulopathy. A retrospective contact tracing was conducted to explore the modes of exposure possibly associated with transmission of CCHF infection among contacts. We traced 32 contacts of the index case and 158 contacts of secondary cases and tested them for IgG and IgM antibodies against CCHF virus by an enzyme-linked immunosorbent assay technique. According to the type of exposure, contacts were divided into five subsets: percutaneous contact with blood, blood contact to unbroken skin, cutaneous contact to non-sanguineous body fluids, physical contact with patients without body fluids contact, and close proximity without touching. Two out of four contacts who reported percutaneous exposure tested positive for antibodies to CCHF virus. We conclude that simple barrier methods and care in provision of CCHF cases may prevent transmission of this infection.

Patterns of pancytopenia patients in a general medical ward and a proposed diagnostic approach.

BACKGROUND: There has been little systematic study on the clinical spectrum of pancytopenia. This study was done to describe the etiology, presentation and outcome of patients with pancytopenia presenting in a general medical ward. METHODS: Hundred patients with pancytopenia were included in the study from October 2001 to October 2002. Patients on cancer chemotherapy were excluded. Blood counts, bone marrow examinations and trephine biopsies were performed according to standard methods. RESULTS: In all cases, megaloblastic anemia constituted the largest group (n = 39), and also seen in conjunction with hemolytic anemia and septicemia. Hypersplenism secondary to portal hypertension (cirrhosis) was the second most common diagnosis (n = 19). Aplastic anemia, septicemia and myelodysplasia were other common causes. Two patients were the suspected cases of viral hemorrhagic fever. Thirteen (13%) patients expired. Absolute neutrophil count (ANC) less than 500/microliter was seen in 14 (14%) patients, among which 6 (15.3%) had megaloblastic anemia, 3 (37.5%) had aplastic anemia, and 2 (40%) had myelodysplasia. Eleven patients with platelet counts < or = 10 x 10(9)/L, 6 (54.5%) presented with bleeding; and 2 of these 8 had aplastic anemia and 1 patient with megaloblastic anemia. MCV values > 100 fL and > 110 fL were more frequent in patients with megaloblastic anemia with most prominent anisopoikilocytosis, microcytosis and fragmented RBCs. Macrocytosis was noted in 35 (89.7%) patients with megaloblastic anemia and 12 (63.1%) with hypersplenism, 4 (50%) with aplastic anemia. Hypersegmented neutrophils were noted in the blood films of 36 (92.3%) patients with megaloblastic anemia. CONCLUSION: Megaloblastic anemia, hypersplenism and aplastic anemia are the common causes of pancytopenia in our study.

Short report: Crimean-Congo hemorrhagic fever outbreak in Rawalpindi, Pakistan, February 2002.

A nosocomial outbreak of Crimean-Congo hemorrhagic fever occurred in Rawalpindi, Pakistan in February 2002. The identified index case died shortly after admission to a hospital. Two of the health care workers became secondary cases; one of them died on day 13 after coming in contact with the index case. The other secondary case was successfully treated with oral ribavirin.