Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. CH is a multifactorial complex disorder and can be caused by either environmental factors or genetic factors. We studied one Pakistani family with segregating mutations in CH inherited in an autosomal recessive manner. Using whole-exome sequencing (WES), we found a novel homozygous missense variant (c.2315A>G; p.Tyr772Cys) in the thyroid peroxidase (TPO) gene. Different bioinformatics prediction tools and Sanger sequencing were performed to verify the identified variant. Our findings highlight the importance of this gene in causing CH and mild-intellectual disability (ID) in two affected brothers. WES is a convenient and useful tool for the clinical diagnosis of CH and other associated disorders.
The present study aims to investigate “Beseeching Verbosity used by Street Beggars” in Sargodha Division in Punjab, Pakistan. It is a Pragmatic Study. Beggary is a universal phenomenon. It has many blasphemous blotches on its name as a social evil, a social taboo, a social problem, a social curse. The objectives of the study were developed from the socio-pragmatic perspective. In this qualitative and theoretical study, data was collected by observation by informants. Geoffrey Leech’s Politeness Principle (1983) and Austin’s (1955) Felicity Conditions were utilized to scrutinize the beseeching language use by street beggars. The application of these theoretical frameworks will reveal the allusions and references that appeal to religious and socio-economic ideologies exploited by the street beggars by beguiling verbosity on the naïve and devoted people of the Sargodha Division. The people, knowingly or unknowingly, are tricked by the beguiling entrapment. This study revealed the tactics used by the beggar in order to blackmail and grab money from the naïve and devoted people. The research carves out a map for the government to assess the Socio-pragmatic perspective of the beggars.
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