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MicroRNAs (miRNAs) are small non-coding RNA molecules that control the post-transcriptional gene expression. They play a pivotal role in the regulation of important physiological processes. Variations in miRNA genes coding for mature miRNA sequences have been implicated in several diseases. However, the association of variants in miRNAs genes with Type 2 Diabetes Mellitus (T2DM) in the Pakistani population is rarely reported. Therefore, the current study was designed to investigate the association of rs11614913 T/C ( MIR196A2 ), rs2910164 G/C ( MIR146A ), and rs6505162 C/A ( MIR423 ) in clinicopathological proven T2DM patients and gender-matched healthy controls. The tetra-primer amplification refractory mutation system-polymerase chain (ARMS-PCR) reaction method was used to determine the genotypes and to establish the association of each variant with T2DM through inherited models. In conclusion, the present study showed that variants rs11614913 T/C and rs2910164 G/C were linked with the risk of T2DM. The data suggested that rs11614913 T/C and rs2910164 G/C could be considered as novel risk factors in the pathogenesis of T2DM in the Pakistani population.

Single-nucleotide polymorphisms (SNPs) in genes coding for microRNAs (miRNAs) play a pivotal role in the progression of breast cancer (BC). We investigated the association of miR-146a rs2910164 GC polymorphism with the risk of BC in the Pakistani population. The miR-146a rs2910164 polymorphism was genotyped in 300 BC cases and 300 age- and gender-matched healthy controls using T-ARMS-PCR. Genotype and allele frequencies were calculated and the association between genotypes and the risk of BC was calculated by odds ratio (OR) and confidence interval (95%). A significant difference in genotypic frequencies (χ 2  = 63.10; P = <0.0001) and allelic frequencies (OR = 0.3955 (0.3132-0.4993); P = < 0.0001) was observed between cases and controls. Furthermore, we also found that miR-146 rs2910164 CC homozygote increased the risk of BC in the dominant (OR = 0.2397 (0.1629-0.3526); P = 0.0001; GG vs. GC + CC) and recessive (OR = 2.803 (1.865-4.213); P = <0.0001; CC vs. GC + GG) inheritance models. In summary, miR-146a rs2910164 GC is significantly associated with BC in the Pakistani population. To our knowledge, this is the first study that assessed MIR146a rs2910164 G > C SNP in Pakistani population. By analyzing the secondary structure of MIR146A variant, a significant structural modification was noted. Study with a larger sample size is needed to further confirm of these findings., (© 2019 John Wiley & Sons Ltd/University College London.)

Objective: Dietary Fe deficiency has a high incidence in Pakistani children and may be associated with increased gastrointestinal absorption of trace metals such as Mn. Therefore, children residing in heavily polluted cities like Karachi may be prone to Mn toxicity. The present study investigated blood Mn concentrations in Karachi children of different Fe statuses., Design: A prospective observational study was conducted where children were classified into different categories of Fe status – normal Fe, borderline Fe deficiency, Fe deficiency and Fe-deficiency anaemia – using WHO criteria supported by measurements of soluble transferrin receptors. Blood Mn was determined for children in each category using graphite atomic absorption spectroscopy., Setting: Three hospital outpatient departments in Karachi, Pakistan., Subjects: A total of 269 children (156 males, 113 females) aged 6–60 months from low-income families of Karachi., Results: Blood Mn concentrations were significantly higher in children with Fe-deficiency anaemia and Fe deficiency compared with those of normal Fe status (both P,0?01). Blood concentrations of soluble transferrin receptors were higher in children with Fe-deficiency anaemia compared with those of borderline or normal Fe status (both P,0?05)., Conclusions: These findings report for the first time high blood Mn concentrations in Fe-deficient children of this age group. There is therefore an urgent need to identify and remove environmental exposure to Mn in combination with health strategies aimed at eradicating childhood Fe deficiency.

Childhood iron deficiency has a high incidence in Pakistan. Some but not all studies have shown that dietary iron deficiency may cause increased absorption of lead as both compete for the same transporters in the small intestine. Therefore, children in Pakistan, residing in heavily polluted cities like Karachi may be prone to lead poisoning. This hypothesis was tested by investigating blood and hair lead concentrations in children from Karachi who were divided into four groups of iron status; normal, borderline iron deficiency, iron deficiency and iron deficiency anaemia. A prospective observational study was conducted where 269 children were categorized into four groups of iron status using the World Health Organization criteria and one based on soluble transferrin receptor measurements. Blood iron status was determined using a full blood count, serum iron, ferritin, transferrin saturation and soluble transferrin receptor measurements. Blood lead was determined by graphite atomic absorption spectroscopy, whereas hair lead was assessed using an inductively coupled plasma atomic emission spectroscopy technique. Blood lead concentrations were significantly higher in children with iron deficiency anaemia (mean [95% confidence intervals] were 24.9 [22.6-27.2] μg/dL) compared to those with normal iron status (19.1 [16.8-21.4] μg/dL) using WHO criteria. In contrast, hair lead content was not significantly different in children of different iron status. Our findings reinforce the importance of not only reducing environmental lead pollution but also the development of national health strategies to reduce childhood iron deficiency in Pakistan., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Background: Malignant tumors of the minor salivary glands comprise a small but significant proportion of oral cancers. We analyzed this group of tumors in our population., Methods: The records of all cases of malignant minor salivary gland tumors diagnosed at the Armed Forces Institute of Pathology (AFIP), Rawalpindi, Pakistan, during a period of 10 years (1994-2003) are described. The institute receives biopsy material from armed forces and public and private sector hospitals in northern Pakistan as well as referrals for second opinion., Results: A total of 21168 tumors were recorded at the AFIP Tumor Registry during the study period. These included 70 malignant minor salivary gland tumors. Twenty-three of these (32.8%) arose in the palate while the remaining tumors originated at other sites in the oral cavity. The commonest histological type was adenoid cystic carcinoma, constituting 30 cases (42.8%). The next most common type was mucoepidermoid carcinoma comprising 26 (37.1%) cases. The mean age of cases was 43.4 years and the male-to-female ratio was 1:1.4. There were 2 cases each of polymorphous low-grade adenocarcinoma and clear cell adenocarcinoma. The remaining cases included undifferentiated carcinomas, adenocarcinomas (not otherwise specified) and a few other rare tumors., Conclusion: Adenoid cystic carcinoma was the commonest malignant neoplasm of the minor salivary glands followed by mucoepidermoid carcinoma. The palate was the commonest location of these tumors.