Neeraj Sharma - Academia.edu (original) (raw)
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Papers by Neeraj Sharma
Human …, 2009
Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congen... more Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at the PGIMER, Chandigarh, for the presence of the most common CFTR gene mutations as well as unknown mutations by single-strand conformation polymorphism followed by sequence analysis. results: This study led to the identification of 12 CFTR gene mutations on 48% of 100 Indian CAVD chromosomes. CFTR mutations were identified on both alleles in 11 patients (22%) and on one allele in 26 patients (52%). Novel CFTR mutations identified were L69H, F87I, G126S, F157C, E543A, Y852F and D1270E. The T5 allele (25%) and F508del (11%) were the most common mutations identified. The most common intragenic marker haplotype for F508del was 2111 (GATT, TUB9, M470V and T854T). No mutations could be detected in 13 CAVD patients (26%), including 4 with renal malformations. conclusions: This study confirms the molecular heterogeneity of CFTR mutations in CAVD. Although the mutation detection rate is indeed lower in Indian CAVD patients, 74% of the patients tested had at least one CFTR mutation. CAVD alleles with no mutations suggest that other changes may be located at the non-screened sites that require extensive search by direct sequencing. Furthermore, the novel CFTR mutations identified require functional studies in a cell-based system.
Over the years many researchers have contributed in estimating relation between Heart Ra... more Over the years many researchers have contributed in estimating relation between Heart Rate Variability and Perceived Mental Stress. In this article we analyzed various techniques available for evaluation of mental stress. Time domain and frequency domain analysis results are reviewed for understanding the significance
of HRV. Various instruments developed have
been reviewed and analyzed their
effectiveness. Results of two case studies
performed in two different environments for
establishing relation between HRV and
perceived mental stress have been discussed.
Ayurveda and Traditional Chinese Medicine approach uses pulse signals obtained from radial ar... more Ayurveda and Traditional Chinese Medicine approach uses pulse signals obtained from radial artery as a means for diagnosis of diseases. These conventional techniques are nowadays been replaced by devices using various sensors for detecting pulse signal from radial artery at wrist position. This paper gives a brief review on such diagnosing techniques developed till now for diagnosis of various diseases using the concepts of Nadi Vigyan. The use of different sensors and their results will also be discussed in this paper
Human …, 2009
Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congen... more Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at the PGIMER, Chandigarh, for the presence of the most common CFTR gene mutations as well as unknown mutations by single-strand conformation polymorphism followed by sequence analysis. results: This study led to the identification of 12 CFTR gene mutations on 48% of 100 Indian CAVD chromosomes. CFTR mutations were identified on both alleles in 11 patients (22%) and on one allele in 26 patients (52%). Novel CFTR mutations identified were L69H, F87I, G126S, F157C, E543A, Y852F and D1270E. The T5 allele (25%) and F508del (11%) were the most common mutations identified. The most common intragenic marker haplotype for F508del was 2111 (GATT, TUB9, M470V and T854T). No mutations could be detected in 13 CAVD patients (26%), including 4 with renal malformations. conclusions: This study confirms the molecular heterogeneity of CFTR mutations in CAVD. Although the mutation detection rate is indeed lower in Indian CAVD patients, 74% of the patients tested had at least one CFTR mutation. CAVD alleles with no mutations suggest that other changes may be located at the non-screened sites that require extensive search by direct sequencing. Furthermore, the novel CFTR mutations identified require functional studies in a cell-based system.
Over the years many researchers have contributed in estimating relation between Heart Ra... more Over the years many researchers have contributed in estimating relation between Heart Rate Variability and Perceived Mental Stress. In this article we analyzed various techniques available for evaluation of mental stress. Time domain and frequency domain analysis results are reviewed for understanding the significance
of HRV. Various instruments developed have
been reviewed and analyzed their
effectiveness. Results of two case studies
performed in two different environments for
establishing relation between HRV and
perceived mental stress have been discussed.
Ayurveda and Traditional Chinese Medicine approach uses pulse signals obtained from radial ar... more Ayurveda and Traditional Chinese Medicine approach uses pulse signals obtained from radial artery as a means for diagnosis of diseases. These conventional techniques are nowadays been replaced by devices using various sensors for detecting pulse signal from radial artery at wrist position. This paper gives a brief review on such diagnosing techniques developed till now for diagnosis of various diseases using the concepts of Nadi Vigyan. The use of different sensors and their results will also be discussed in this paper