The current molecular genetic diagnostic rates for hereditary hearing loss (HL) vary considerably according to the population background. Pakistan and other countries with high rates of consanguineous marriages have served as a unique resource for studying rare and novel forms of recessive HL. A combined exome sequencing, bioinformatics analysis, and gene mapping approach for 21 consanguineous Pakistani families revealed 13 pathogenic or likely pathogenic variants in the genes GJB2, MYO7A, FGF3, CDC14A, SLITRK6, CDH23, and MYO15A, with an overall resolve rate of 61.9%. GJB2 and MYO7A were the most frequently involved genes in this cohort. All the identified variants were either homozygous or compound heterozygous, with two of them not previously described in the literature (15.4%). Overall, seven missense variants (53.8%), three nonsense variants (23.1%), two frameshift variants (15.4%), and one splice-site variant (7.7%) were observed. Syndromic HL was identified in five (23.8%) of the 21 families studied. This study reflects the extreme genetic heterogeneity observed in HL and expands the spectrum of variants in deafness-associated genes.

Abstract. Land degradation leads to alteration of ecological and economic functions due to a decrease in productivity and quality of the land. The aim of the present study was to assess land degradation with the help of geospatial technology -remote sensing (RS) and geographical information system (GIS) -in Bathinda district, Punjab. The severity of land degradation was estimated quantitatively by analyzing the physico-chemical parameters in the laboratory to determine saline or salt-free soils and calcareous or sodic soils and further correlating them with satellite-based studies. The pH varied between 7.37 and 8.59, electrical conductivity (EC) between 1.97 and 8.78 dS m −1 and the methyl orange or total alkalinity between 0.070 and 0.223 (HCO

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A determination of soil heavy metal (Cu, Mn and Ni) concentrations in Perlis state, Malaysia was performed to define the level of soil pollution. Six soil samples were collected at depth of 0 – 15 cm in industrial, residential and school areas around Perlis. The highest concentration of Mn (57.80 mg/kg) and Ni (2.83 mg/kg) were detected at limestone quarry in Bukit Air, Cu (17.43 mg/kg) in Kampung Wang Ulu. The concentration of Cu, Mn and Ni were well below their soil geochemical background values. The single pollution indices assessment revealed that the soil contamination due to heavy metals in Perlis is insignificant. On the basis of the heavy metal content, the potential health risk assessment for children and adults was calculated for a lifetime of exposure through ingestion, inhalation and dermal contact based on the USEPA model. The exposure assessment found that the exposure pathways of heavy metals to both children and adults are through ingestion. Both Hazard Quotient (HQ) and Hazard Index (HI) values are lower than 1, indicating no health risk. From the result, the HI values indicated that the soil heavy metal contamination could pose more impacts on children as compared to adults.