Search

Background: “Detect–Treat–Prevent–Build” to achieve tuberculosis (TB)-free India is envisaged in the National Tuberculosis Elimination Program (NTEP). To be able to achieve this, it is important to address the fact that the most vulnerable and hard-to-reach groups need to undertake screening. The present review aimed to examine the vulnerability in connection with TB disparities faced by distinct sub-populations generally viewed as vulnerable and follow these for testing. Materials and Methods: The community-based cross-sectional study was conducted in the field practice area of sub-center Carambolim in a rural area of Goa for 3 months. The households were visited, and data collected via personal interviews were recorded on the questionnaire study tool. Based on the data, the participants’ vulnerability mapping was done per the parameters identified. Results: Among 223 households, 528 persons were screened for vulnerability. The 47 highly vulnerable participants were advised sputum CBNAAT, of which 9 (19%) tested positive for pulmonary TB, while of the 86 moderately vulnerable participants, 4 (5%) tested positive for pulmonary TB. Among the 34 with symptoms suggestive of TB, 3 (9%) tested positive for pulmonary TB. Conclusions: The study detected 16 new TB patients from the population and found a higher incidence of pulmonary TB among the vulnerable group with no symptoms of Pulmonary TB. A further state-wide survey is recommended to diagnose such cases.

Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c.1078C>T; p.Arg360Cys and c.404C>T; p.Pro135Leu). The female proband who presents with a severe neurological phenotype carries both of these mutations in a compound heterozygous state. The p.Pro135Leu variant, however, is present in the proband’s mother and sibling as well, and is consistent with an autosomal dominant pattern linked to tonic-clonic and myoclonic epilepsy. In conclusion, we describe a single family in which TBC1D24 mutations cause expanded dominant and recessive phenotypes. In addition, we discuss and highlight that some variants in TBC1D24 might cause a dominant susceptibility to epilepsy