Prevalence of GCKR rs1260326 Variant in Subjects with Obesity Associated NAFLD and T2DM: A Case-Control Study in South Punjab, Pakistan.

The glucokinase regulatory protein (GCKR) regulates glycogen metabolism and insulin secretion, and the GCKR rs1260326 is a putative single nucleotide polymorphism (SNP) associated with metabolic disorders including nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes mellitus (T2DM). This study was conducted to investigate the genetic association of the GCKR rs1260326 in NAFLD and T2DM in our population. NAFLD (n = 103), T2DM (n = 100), and control (n = 100) samples were collected and genotyped for GCKR rs1260326 by tetra-arm PCR. The genetic variant GCKR rs1260326 was significantly linked with NAFLD and T2DM, while the GCKR rs1260326 was significantly associated with the progression of obesity only in NAFLD subjects. The frequency of the C allele (mutant) was higher in both NAFLD (f = 0.69) and T2DM (f = 0.66) subjects as compared to healthy controls of NAFLD (0.52) and T2DM (f = 0.32). The frequency of the C allele was also positively linked with the progression of obesity in both diseases. The frequency of the C allele was 0.66, 0.67, and 0.74 in NAFLD normal weight, overweight, and obese subjects, respectively, while the frequency of the C allele was 0.60, 0.60, and 0.74 in T2DM in normal weight, overweight, and obese subjects, respectively. Homozygous mutant (CC) was 53% in both NAFLD and T2DM subjects, while heterozygous mutant (CT) was 15.53% in NAFLD and 22% in T2DM subjects. Wild-type allele (TT) was 31.06% in NAFLD and 25% in T2DM subjects. In conclusion, the GCKR rs1260326 is a highly prevalent SNP in NAFLD and T2DM subjects, which possibly contributed to obesity, insulin resistance, and metabolic disorders in our population.

Trajectory of cause of death among brought dead neonates in tertiary care public facilities of Pakistan: A multicenter study.

BACKGROUND: Considering the fact that Pakistan is amongst the countries with very high neonatal mortality rates, we conducted a research study to determine the possible causes and characteristics of neonates presenting dead to the emergency department of tertiary public health care facilities of Pakistan using verbal autopsies. METHODS: A descriptive case series study was conducted in emergency department/pediatrics ward/neonatal ward/nursery unit of ten tertiary care public health facilities, situated in seven major cities of Pakistan from November, 2011 to June, 2013. Precoded verbal autopsy proforma was used to collect information regarding cause of death, family narratives and other associated risks accountable for pathway to mortality. RESULTS: We identified 431 neonates presenting dead to the emergency department (238 males and 193 females). Sepsis (26.7%), birth asphyxia (18.8%) and persistent pulmonary arrest (17.2%) were main primary causes of brought death. Around 72% brought dead neonates were referred from doctors/health care facilities and more than 28% caregivers mentioned that they were not informed about the diagnosis/ailment of their deceased newborn. CONCLUSIONS: Findings of our study suggest that infectious disease remains the main primary cause of neonatal mortality. Underweight in newborns (64%) was estimated as a leading associated risk. Delays in referrals to respective health care facility enlightened the concern of sub-standard prerequisites of neonatal care that could be one of the major contributing risk factor of high mortality rates.

Association of endothelial nitric oxide synthase (eNOS) gene polymorphism (Glu 298 Asp) with coronary artery disease in subjects from Multan, Pakistan.

Acute Coronary Syndrome (ACS) is the most common disease and cause of mortality in both genders across the world and certain risk factors i.e. age, gender, smoking, diabetes, hypertension, drugs usage, weight etc are known to be associated with the disease. The aim of this study was to find if there is any correlation exists between ACS and hereditary genetic defect in endothelial nitric oxide synthase (ecNOS) gene as eNOS generates Nitric oxide in blood vessels and regulates the vascular tone hence directly affecting the cardiovascular function. Single nucleotide polymorphism (SNP) (Glu 298 Asp) in ecNOS was determined in 280 subjects, from Southern Punjab (in Pakistan) population, including (160 ACS patients and 120 healthy controls) by PCR-RFLP method and genotype was correlated with various risk factors as well as with serum cholesterol and triglyceride levels. Our results indicated that the genotype Glu 298 Asp was not associated with ACS but when various studied parameters were compared among patients suffering from various forms of ACS and their healthy controls, it was observed that age (45-55 years) (P = 0.05), gender (male) (P < 0.001), education (P<0.001), family history (P=0.03), hypertension (P<0.001), diabetes (P<0.01) and smoking habit (P = 0.03) were the significantly different parameters among them and may be associated with the incidence of cardiovascular disease. Cholesterol (161.5±79 mg/dL) level was found to be higher in patients (P = 0.04) than controls while triglyceride remained unaffected (P = 0.87) in both groups.

Chest Pain as a presenting complaint in patients with acute myocardial infarction (AMI).

OBJECTIVE: To study various characteristics of chest pain in acute myocardial infarction patients. METHODOLOGY: A total of 331 patients of AMI admitted at Cardiology unit Nishtar Hospital Multan and Chaudhry Pervez Elahi Institute of Cardiology Multan, irrespective of the age and gender, were included in this study. The study duration was one year starting from June 2011 to June 2012. Non-probability purposive sampling technique was used in this descriptive study. Informed consent to participate in this study was taken. Data were entered and analyzed using SPSS-11. RESULTS: A total number of 331 patients with AMI were included in the study. Mean age was 54.99±11.25 years with minimum age 20 years and maximum age 90 years. It included 264(79.8%) male and 67(20.2%) female patients with male to female ratio of 3.9:1. Out of these 331 patients 308 (93.1%) patients reported chest pain as the presenting complaint. Remaining 23(6.9%) presented with clinical features other than chest pain. There were 127(38.4%) patients with pre-cordial chest pain, 115(34.7%) had retrosternal chest pain, 58(17.5%) were having epigastric pain. Severe chest pain was seen in 281(84.9%) patients while 26(7.9%) had only mild chest discomfort. Radiation of the pain to shoulder, neck and jaw was seen in 75 (22.7%) patients. In 42(12.7%) patients, pain radiated to both sides of chest. Another 55(16.6%) patients had pain radiation to chest, shoulder, upper arm and ulnar side of left forearm. Chest pain radiation to interscapular region along with both sides of chest was present in 10(3.0%) patients. In 11(3.3%) patients' pain radiated only to left side of chest. Pain persisting for >20 minutes was reported by 298 (90%) patients while only 10(3.1%) had pain persisting for <20 minutes. CONCLUSION: There is considerable overlap in chest pain of cardiac as well as non cardiac causes. However, vigilant evaluation of characteristics of chest pain in history taking may help to overcome this dilemma. Severe and prolonged precordial chest pain in a male patient between the age of 41-70 years, with pain radiation to left shoulder, neck and jaw is highly suggestive of AMI.

Frequency of anti-HCV, HBsAg and related risk factors in pregnant women at Nishtar Hospital, Multan.

BACKGROUND: Viral hepatitis is a global issue. Among the hepatitis viruses hepatitis B and C are important in South Asia including Pakistan. There are various modes of transmission of these viruses. Vertical transmission is also gaining importance. Antepartum screening for HBV and HCV would help the infected women for appropriate antiviral therapy at appropriate time as well as for taking proper care of the newborns. The present study was designed to see the frequency of HBsAg and anti-HCV in pregnant women at Nishtar Hospital, Multan. METHODS: This was a cross-sectional study carried out using non-probability purposive sampling technique. The period of the study was from June 2006 to August 2007. Five hundred (500) pregnant women attending outpatient department of Gynaecology and Obstetrics were included. Informed consent was taken. A specially designed proforma was filled in. Anti-HCV and HBsAg were tested by device method. Data were analysed on SPSS-11. RESULTS: Out of 500 pregnant women 35 (7.00%) were found to be anti-HCV positive and 23 (4.60%) were positive for HBsAg. Mean age was 26.7 +/- 4.8 years. Majority of the patients 263 (52.60%) were in the age group 26-35 years. 138 (27.60%) women were nulliparous and 282 (56.40%) were para 1-4 and anti-HCV and HBsAg were common in this parity group. Only 80 (16.00%) women were para 5 or more. All anti-HCV and HBsAg positive women were house-wives. Most of them were belonging to rural areas having poor socio-economic status. Among 35 anti-HCV positive women, 20 (57.14%) had history of previous surgery, while 13 (37.14%) had history of multiple injections, 5 (14.28%) received blood transfusion, 4 (11.42%) had ear/nose piercing while tattooing was seen in only 2 (5.71%). Among 23 HBsAg positive women, 10 (43.47%) had history of previous surgery. History of multiple injections was present in 6 (26.08%) patients, 4 (17.39%) patients had history of blood transfusion, tattooing, ear/nose piercing, history of dental procedure, history of sharing needles was observed in 1 each. CONCLUSION: Frequency of anti-HCV is more common than HBsAg in our study population. Previous history of surgery, multiple injection therapy and blood transfusion were observed as risk factors among anti-HCV and HBsAg positive pregnant women.