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Background: CSOM is associated with functional damage to the ear which can present as SNHL; however published literature shows mixed associations. Study design and setting: Cross-sectional observational study at Jinnah Postgraduate Medical Center, Karachi, Pakistan. Methodology: The study sampling technique was non-probability consecutive sampling technique. Patients of either gender and between the ages of 10-50 years, diagnosed with CSOM within the last six months were included while patients with a previous history of SNHL, usage of ototoxic drugs, trauma to ear or those not willing to give consent for the study were excluded. SPSS v23.0 was used for data analysis and chi-square test was applied, keeping p-value of <0.05 as statistically significant. Results: From the total of 200 patients with mean age of patients 24.7 ± 8.42 years. The mean duration of CSOM was 6.56 ± 4.28 years. 145 (72.5 %) were male while 55 (27.5 %) female. SNHL was found to be positive in 36 (18 %) of patients while 165 (82 %) were negative for SNHL. With respect to duration to disease, SNHL was reported to be positive in 11 (10.9 %) of patients having duration of CSOM between 2-6 years while in 25 (25.3 %) of patients having CSOM for over 6 years. A significant difference of p-0.008 was observed in both the groups. Conclusion: According to the results of this study, SNHL is significantly associated with CSOM with higher frequencies observed in males and in patients with CSOM for longer durations. [ABSTRACT FROM AUTHOR]

In Pakistan, avian influenza surveillance has been both active and passive. Here, we present the results of a survey effort focusing solely on the live bird markets and wild bird species from different zoos and national parks to understand the impact of live bird markets on the spread of highly pathogenic avian influenza viruses. A cross sectional survey was conducted from Jan-Dec 2011 to identify and isolate the circulating avian influenza virus subtypes in live bird markets and wild birds from different localities in and around Islamabad Capital Territory. Swabs, tracheal tissues and sera samples were collected, screened and diagnosed by hemagglutination inhibition assay and RT-PCR. The highest seropositivity was recorded for H9 (100 %) followed by H5 (89.4%) and H7 (72.3%). All 27 isolates were of the low pathogenic H9N2 subtypes and no viruses could be successfully isolated of subtype H5N1 or H7N7. The higher prevalence of H5N1 (89.4%) observed in the present study was an alarming threat; therefore, we suggested immediate control strategies against this emerging risk of H5N1 for human in live bird markets in Pakistan. The factors unveiled in this study will help in understanding the lapses in controlling persistent outbreaks of avian influenza in country. [ABSTRACT FROM AUTHOR]

In this study, we have performed autozygosity mapping on a large consanguineous Pakistani family segregating with intellectual disability. We identified two large regions of homozygosity-by-descent (HBD) on 16q12.2-q21 and 16q24.1-q24.3. Whole exome sequencing (WES) was performed on an affected individual from the family, but initially, no obvious mutation was detected. However, three genes within the HBD regions that were not fully captured during the WES were Sanger sequenced and we identified a five base pair deletion (actually six base pairs deleted plus one base pair inserted) in exon 7 of the gene FBXO31. The variant segregated completely in the family, in recessive fashion giving a LOD score of 3.95. This variant leads to a frameshift and a premature stop codon and truncation of the FBXO31 protein, p.(Cys283Asnfs*81). Quantification of mRNA and protein expression suggests that nonsense-mediated mRNA decay also contributes to the loss of FBXO31 protein in affected individuals. FBXO31 functions as a centrosomal E3 ubiquitin ligase, in association with SKP1 and Cullin-1, involved in ubiquitination of proteins targeted for degradation. The FBXO31/SKP1/Cullin1 complex is important for neuronal morphogenesis and axonal identity. FBXO31 also plays a role in dendrite growth and neuronal migration in developing cerebellar cortex. Our finding adds further evidence of the involvement of disruption of the protein ubiquitination pathway in intellectual disability.