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.

Improvement in lipids extraction processes for biodiesel production from wet microalgal pellets grown on diammonium phosphate and sodium bicarbonate combinations.

Biomass productivity and growth kinetics for microalgae grown on sodium bicarbonate and diammonium phosphate were investigated. Different carbon and nitrogen ratios have shown different growth rates and biomass productivity and C:N ratio 50:10 as mgL(-1) has shown the best production than all. For effective lipids extraction from biomass thermolysis and sonolysis were carried out from wet biomass. Sonolysis at 2.3W intensity for 5min has released 8.58mg at neutral pH. More quantity of lipids was extracted when extraction was made at pH 4 and 10 which resulted 9mg and 9.28mg lipids respectively. Thermal treatment at 100°C for 10min has released 12.82mg lipid at neutral pH. In the same thermolysis at pH 4 and 10 more quantity of lipids was extracted which were 15.16mg and 14.81mg respectively. Finally transesterified lipids were analyzed through GC-MS for FAME composition analysis.

Guidelines on gastroesophageal reflux disease.

Gastroesophageal reflux disease (GERD) is the most common acid-related disorder encountered during clinical practice in Pakistan and is associated with significant impairment of health-related quality of life. A number of guidelines and recommendations for the diagnosis and management of GERD have been published in different countries, but a Pakistani accepted directive by the standards of evidence-based medicine is still lacking. Our aim was to create an understanding of the natural history and presentations of reflux disease; evaluating possible treatment options available for the patients with complex and uncomplicated reflux ailments with the development of current and up to date evidence based endorsement, relevant to the needs of Pakistani health care providers in order to treat oesophageal manifestations of GERD. In order to make such guidelines, a comprehensive literature search was conducted with pertinent evidence reviewed, and quality of relevant data assessed. The resultant conclusions were based on the best available evidence and expert opinion of the authors of technical review panel.

Yield of esophagogastroduodenoscopy and colonoscopy in cancer of unknown primary.

OBJECTIVES: Carcinoma of unknown primary origin (CUP) is heterogeneous group of cancers. Role of gastrointestinal (GI) endoscopy in this entity is under investigated. Aim of this study was to evaluate yield of Colonoscopy and Esophagogastroduodenoscopy (EGD) in localizing primary tumor in patients with CUP. METHODOLOGY: Patients with histopathologically proven CUP who underwent colonoscopy / EGD to find the primary tumor from December 2009 to December 2011 were included in the study. Abdominal symptoms and cytokeratin (CK) 7 and 20 markers were correlated with presence of primary in GI tract. RESULTS: After giving informed consent 86 patients were included in final analysis. All patients underwent colonoscopy while 60(70%) got EGD along with colonoscopy. Mean age was 55.10 +/-11.94 years with 52(60%) male. Abdominal symptoms were present in 50%. CK7+/CK20- in 34(40%); CK7-/CK20+ in 2(2%) while CK7+/20+ in 7(8%) of metastatic tumor samples. Liver was metastatic site in 47(55%), Lymph node 12(14%) and Ascites in 8(9%). Endoscopy detected primary in 6 (7%) patients with 3 each in stomach and colon. No association of abdominal symptoms and cytokeratin markers was found with presence of GI primary site. CONCLUSION: Yield of localizing primary lesion in the GI tract by pan-endoscopy was limited. Abdominal symptoms and cytokeratin markers do not predict presence of gastrointestinal malignancies.

An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal (GI) tract hamartomatous polyps and an increased risk of malignancy. In addition to polyposis, previous studies have reported increased risk of GI and extraGI malignancies in PJS patients, compared with that of the general population. The most common extraintestinal malignancies reported in previous studies are pancreatic, breast, ovarian and testicular cancers.We report the case of a 17-year-old boy who presented with generalized weakness, recurrent sharp abdominal pain and melena, had exploratory laparotomy and ileal resection for ileo-ileal intussusception. Pigmentation of the buccal mucosa was noted. An abdominal computed tomography scan (CT) revealed multiple polyps in small bowel loops. Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborization, compatible with Peutz-Jeghers polyps. CT scan guided left para-aortic lymph node biopsy revealed the characteristic features of extra-adrenal para-aortic paraganglioma. Although cases of various GI and extra GI malignancies in PJS patients has been reported, the present case appears to be the first in literature in which the PJS syndrome was associated with asymptomatic extraadrenal para-aortic paraganglioma. Patients with PJS should be treated by endoscopic or surgical resection and need whole-body screening.

MELD score: utility and comparison with King's College criteria in non-acetaminophen acute liver failure.

OBJECTIVE: To compare Model for End-stage Liver Disease Score (MELD Score, MS) and King's College Hospital (KCH) criteria for finding correlation of mortality in non-acetaminophen induced acute liver failure (NAI-ALF). STUDY DESIGN: An analytical cross-sectional study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from 2005 to 2007. METHODOLOGY: The study included patients with NAI-ALF. KCH criteria were labelled as good and bad prognosis groups. MELD score were calculated by using the MELD calculator. ROC was plotted and sensitivity analysis was done. ETA was used to see correlation between MELD and KCH. RESULTS: Ninety-one patients with mean age of 32.5 + 16.3 years were studied; 49 were males (54%). Out of these, 57 patients died (63%); two leading causes of non-acetaminophen induced acute liver failure (NAI-ALF) were hepatitis hepatitis B virus (HBV) (n = 30, 33%) followed by hepatitis E virus in (n = 23, 25.3%). According to King's College Hospital (KCH) criteria, 50 patients (88%) who died had bad prognosis and 24 patients (70.6%) who survived had good prognosis. The ROC determined MELD score of 32 was the best predictor of mortality with sensitivity and specificity of 79% and 71%, respectively and positive predictive value (PPV) and negative predictive values (NPV) of 82% and 67% respectively. There was significant association between mortality and bad prognosis according to KCH criteria (p < 0.001). Overall mean MELD score (MMS) was 35.35 + 8.64. MMS on admission was 38 + 7.32 in patients who died and 30.7 + 8.77 in those who survived (p = < 0.001). MMS correlated equally with KCH criteria (ETA = 0.52). CONCLUSION: The admission MELD score has an excellent utility and correlates equally with KCH criteria for mortality in NAI- ALF.

Factors predicting the recurrence of spontaneous bacterial peritonitis in patients with cirrhosis.

OBJECTIVE: To evaluate the frequency of recurrence of spontaneous bacterial peritonitis (SBP) in patients with end stage liver disease and the factors responsible for it. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital, Karachi, from November 2008 till November 2009. METHODOLOGY: Patients with cirrhosis who were admitted at AKUH with diagnosis of SBP during the study period were included. Any episode of SBP after resolution of the first index case of SBP within one year was considered as recurrence. RESULTS: Out of 238 cirrhotic patients, 157 (66%) had single, while 81 (34%) had recurrent episodes of SBP. History of using proton pump inhibitors (PPI) and diuretics was found in 113 (47.5%) and 139 (58.4%) patients respectively. Only 58 24.4%) patients were on prophylactic antibiotic therapy. Univariate analysis revealed that the female gender (52%), and presence of porto-systemic encephalopathy (PSE, 31%) were statistically significant (p=0.03) among those who had recurrent SBP. On multivariate analysis bilirubin level of > 1.0 mg (OR=7.03; 95%CI=1.55-32), protective factor of hepatitis B (OR 0.31; 95%CI=0.13-0.70) and presence of urinary tract infection (UTI) (OR=2.24; 95%CI=0.99-5.09) were significant in patients with recurrent SBP. CONCLUSION: Recurrent SBP was noticed in 34% patients. Serum bilirubin level of > 1.0 mg, protective factor of HBV and presence of UTI were significant factors present in patients with recurrent SBP.