Publications by authors named "N Kalyani Josyula"
Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <1%, not currently annotated as benign). Participants with variants of interest underwent phenotyping by dual chart review using a standardized abstraction tool.
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- The study investigates the prevalence of hirsutism among South-Indian women and establishes modified cut-offs for the modified Ferriman-Gallwey score (mFGS), recognizing the lack of population-specific data for Indian women.
- Conducted with 453 women aged 18-40, the research showed a low prevalence of hirsutism at 1.8% using an mFGS of ≥8, and 9.9% using a cut-off of ≥5.
- The findings suggest a new mFGS cut-off of 5 for South-Indian women to better assess hirsutism prevalence in this population.
Article Synopsis
- A study analyzed rare variants in the elastin gene, linking them to connective tissue diseases beyond known conditions like Supravalvar Aortic Stenosis and Cutis Laxa.
- Out of 184,293 participants in the MyCode Community Health Initiative, 296 had relevant gene variants, with 41% showing symptoms such as aortic hypoplasia and arterial dilation.
- The research indicates that variations in the elastin gene are significantly associated with arterial dissection and may contribute to a broader spectrum of connective tissue disorders.
Article Synopsis
- Clubfoot is a common congenital condition characterized by a rigid inward and downward foot position, with its causes remaining largely unclear despite some known genetic factors.
- Researchers analyzed exome sequence data from 1190 cases of non-syndromic clubfoot along with their family members, focusing on uncovering rare genetic variants associated with the condition across different ethnicities.
- The study identified rare variants in 29 genes linked to clubfoot cases, including previously unrecognized genes, and revealed that a small percentage of cases had variants associated with known diseases, expanding the understanding of the genetic basis of clubfoot.
The intrinsic fluorescence of bacterial samples has a proven potential for label-free bacterial characterization, monitoring bacterial metabolic functions, and as a mechanism for tracking the transport of relevant components through vesicles. The reduced scattering and axial confinement of the excitation offered by multiphoton imaging can be used to overcome some of the limitations of single-photon excitation (e.g.
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