BackgroundHereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667). Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene.MethodsA large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438) was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4) were sequenced. A mutation-specific restriction enzyme digest (HphI) was performed for all family members and unrelated controls.ResultsThe disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X).ConclusionWe identified the first nonsense mutation (p.R405X) in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

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In a 16-month study on rodent-infestation patterns in crop fields on the Pothwar Plateau, Pakistan, five rodent species were found to occur in the following order of dominance: Tatera indica, Bandicota bengalensis, Mus spp., Golunda ellioti and Nesokia indica. On the basis of the trapping data, the first three species were considered to have pest status and their relative abundance changed from season to season. During spring, T. indica and B. bengalensis were the dominant species. B. bengalensis became dominant in summer. The proportion of T. indica increased during the monsoon season and autumn (58.5%) and reached almost 95% during winter. Mus species were more common than B. bengalensis in the post-summer monsoon and autumn. G. ellioti and N. indica were captured occasionally, and showed no seasonal preference. As N. indica is a highly fossorial species, surface trapping is believed to have underestimated its prevalence. Unlike the other species, the population of T. indica was stable all over seasons; this appeared to be linked to its use of the wild vegetation on the field boundaries. This preliminary information highlights the need for further studies to explore the life-history traits and habitats of these rodent species.W R 0 1 0 2 5 R o d e n t s o f t h e P o t h w a r P l a t e a u , P a k i s t a n I . H u s s a i n e t a l .

Aim of this review was to publish a brief literature review based on recent studies, highlighting the association of chronic periodontitis with cardiovascular ailments. A comprehensive literature study was completed by using two databases and one search engine namely: ‘MEDLINE’, ‘PUBMED’ and ‘GOOGLE SCHOLAR’ respectively. The referenced literature comprised of observational and case studies, systematic reviews, randomized control trials and short communications. Etiological pathophysiology, significance of the association and common mediators of periodontitis as well as cardiovascular diseases were briefly described. Epidemiological studies declared the causative role of chronic periodontitis in cardiovascular pathologies. Periodontal flora and its toxins have been linked to atherosclerosis. Common immune-inflammatory mediators possessed a significant role in the pathogenesis of heart-vascular pathologies. Periodontitis has been considered as an independent risk factor for the initiation and aggravation of cardiovascular ailments. However, by using primary periodontal measures, the chances of periodontitis can be minimized and the risk for cardiovascular diseases can be controlled. Keywords: Chronic Periodontitis, Cardiovascular Diseases, Association.

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