No abstract

The study was conducted in the TB Sanatorium Quetta. A total 130 samples were collected from patient. While 43.75% and 56.25% tuberculosis prevalence were found both in male and female respectively with age group 28-54 years having the highest prevalence of tuberculosis. There was no difference between age groups and sex with pulmonary tuberculosis positive Subjects. Tuberculosis (TB) is a respiratory compelling contagious infection made by a germ or bacillus (Mycobacterium tuberculosis) affecting generally individuals. TB is a treatable infirmity. Tuberculosis is a disease that generally attacks the lungs yet can also ambush any other part of the body. Tuberculosis is spread from individual to individual through the air. The treatment of TB is commonly completed in 6 to 9 months. Inoculations are open for TB which is BCG counter acting agent. In most cases specially in Balochistan, patients carelessly quit taking drugs after two months as the torment and hacking clear out. It is notable that pulmonary tuberculosis is a serious threat specially in this region, so it is necessary to aware the people regarding TB also their treatment & control.

Polydactyly is one of the most common congenital abnormal phenotype of autopod, which is characterized by extra supernumerary digit in hands/feet with or without well‐developed bony structure within the digits. Preaxial polydactyly (PPD), postaxial polydactyly (PAP), and meso‐axial (central) polydactyly are three different isoforms of polydactyly. Genetically, at least 10 genes have been identified causing nonsyndromic polydactyly. In the present study, we have investigated a large family segregating autosomal dominant form of nonsyndromic polydactyly. Whole exome sequencing followed by Sanger sequencing revealed a novel heterozygous missense variant (NM_005269.3; c.1064C>A; p.(Thr355Asn) in the gene GLI1 segregating with the disease phenotype within the family. This study presents first familial case of autosomal dominant form of polydactyly caused by the GLI1 variant.