Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayendra Kulkarni,Rajat Hegde,Smita Hegde,Suyamindra S. Kulkarni,Suresh Hanagvadi,Kusal K. Das,Sanjeev Kolagi,Pramod B. Gai,Rudragouda Bulagouda 대한혈액학회 2021 Blood Research Vol.56 No.4

Background Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB patients using sequencing technology. Methods F9 gene sequences were amplified from peripheral blood-derived DNA and sequenced on an Applied Biosystems (ABI) 3500 Sanger sequencing platform. Functional and structural predictions of mutant FIX were analyzed. Results Among 150 HB patients, 102 (68%), 30 (20%), and 18 (12%) suffered from severe, moderate, and mild HB, respectively. Genetic analysis identified 16 mutations, including 3 novel mutations. Nine mutations (7 missense and 2 stop-gain) were found to be pathogenic. Only 3 mutations (c.127C>T, c.470G>A, and c.1070G>A) were associated with different severities. While 2 mutations were associated with mild HB cases (c.304C>T and c.580A>G), 2 (c.195G>A and c.1385A>G) and 3 mutations (c.223C>T, c.1187G>A, and c.1232G>A) resulted in moderate and severe disease, respectively. Additionally, 1 mutation each was associated with mild-moderate (c.*1110A>G) and mild-severe HB disease (c.197A>T), 4 mutations were associated with moderate-severe HB cases (c.314A>G, c.198A>T, c.676C>T, and c.1094C>A). FIX concentrations were lower in the mutated group (5.5±2.5% vs. 8.0±2.5%). Novel p.E66D and p.S365 mutations were predicted to be pathogenic based on changes in FIX structure and function. Conclusion Novel single nucleotide polymorphisms (SNPs) largely contributed to the pathogenesis of HB. Our study strongly suggests that population-based genetic screening will be particularly helpful to identify risk prediction and carrier detection tools for Indian HB patients.

Bioremediation of imidacloprid using Azospirillium biofertilizer and Rhizobium biofertilizer

Kavita Kulkarni,Aishwarya Chawan,Anand Kulkarni,Sandip Gharat 한국화학공학회 2022 Korean Journal of Chemical Engineering Vol.39 No.10

Imidacloprid is a pesticide used for agricultural purposes. Residue of pesticide in water and soil will affect the water and soil quality. Seepage out of imidacloprid to the ecological system could affect aquatic life as well as human. The toxic pollutants would affect the quality of agriculture run off, in turn contaminating water bodies acting as sink for these runoffs. Hence, there is need for reparation of these pollutants. Azospirillium biofertilizer and Rhizobium biofertilizer were used as adsorbent for the removal of imidacloprid. These biofertilizers have capability to reduce the harmful component as well as be useful for plant growth. Azospirillium bacteria and Rhizobium bacteria are competent for the removal of organic pollutant from wastewater. These biofertilizers maintain biological activity without any adverse effect. The adsorptive removal of imidacloprid by using Azospirillium biofertilizer and Rhizobium biofertilizer was investigated at different conditions using batch experimentation. Optimization of parameters, such as dosage, time, temperature, pH, and agitation speed, was carried out. Equilibrium adsorption was illustrated by Langmuir and Freundlich isotherms. The kinetic data was best described by intraparticle diffusion and pseudo-second-order model. Reusability study showed good removal efficiency of imidacloprid after fourth use also. The investigations show that these materials have potential to be an excellent alternative for removal of pesticides while supporting plant growth.

Temporal Variation of Dominant Modes of Oscillations in the Wind Field in the Surface Boundary Layer over a Costal Indian Station

Makarand A. Kulkarni,J. R. Kulkarni,G. V. Rama,P. N. Sen 한국기상학회 2007 한국기상학회 학술대회 논문집 Vol.2007 No.-

Numerical and Experimental Analysis of Transpiration Cooling in Carbon Dioxide Atmosphere at Hypersonic Mach Numbers

V. N. Kulkarni,P. S. Kulkarni,K. P. J. Reddy 한국전산유체공학회 2003 한국전산유체공학회 학술대회논문집 Vol.2003 No.10

EXPERIMENTAL CHARACTERISATION OF VLSI INTERCONNECTS USED IN HIGH-SPEED MULTICHIP MODULES

Kulkarni,S. Y.,Murthy,K. V. V. 대한전자공학회 1995 ICVC : International Conference on VLSI and CAD Vol.4 No.1

The cross-talk voltage generated by on-chip and off chip circuitry is one of the major considerations in IC design and package for high-speed systems. These crosstalk effects increase as a result of shorter rise times, larger chip currents, greater die dimensions and smaller spacing between the circuit components on the chips and boards. As a consequence of this the system-performance is mainly governed by the performance of interconnection system-performance. Considerable amount of work has been done theoretically to characterize such interconnection performance. However, the experimental characterisation aspects of such high-speed interconnects has received very less attention. In this paper, an effort has been made to characterise such interconnects experimentally. The results obtained from such characterisation are used to validate the theoretical results.

Opportunistic Screening for Cervical Cancer in a Tertiary Hospital in Karnataka, India

Kulkarni, Padmaja Ramesh,Rani, Hephzibah,Vimalambike, Manjunath Gubbanna,Ravishankar, Sunila Asian Pacific Journal of Cancer Prevention 2013 Asian Pacific journal of cancer prevention Vol.14 No.9

The incidence and mortality of cervical cancer remains high in India even after sixty years of introduction of the Pap smear (cervical cytology) which is an effective means of identifying preinvasive lesions of carcinoma cervix. The morbidity and mortality due to cervical cancer has come down drastically in countries with well established screening programmes at national level. This study aims at screening women for cervical cancer opportunistically during their visit to hospital and to study various types of neoplastic and non-neoplastic lesions of the cervix by cervical smear study (Pap smear study). In the present study, a total of 350 cervical smears were studied. The age of patients ranged from 19 years to 80 years with mean age being 37.5 years. Out of 350 cases, the diagnosis of neoplasia was given in 43 cases and 258 cases were diagnosed as inflammatory smears. Forty-cases were normal and 9 cases were inadequate to evaluate. Forty-three patients who were found to have neoplastic lesions on cytology were referred for further investigations like colposcopy and biopsy to confirm the diagnosis and avail proper treatment. Limitation of the present study was small sample size as all female patients aged between 20 and 60 years visiting hospital were not included in the screening, other screening tests like VIA (visual inspection with acetic acid test) and HPV DNA (human papilloma virus) tests were not done. Until the time centrally organised screening programmes for cervical cancer are established in India, arrangements should be made for hospital based opportunistic screening for all women attending hospital. The cost effectiveness of different screening tests for cervical cancer should be evaluated.

Densitometric quantification for the validation of decolorization of Disperse Orange ERL by lichen <i>Parmelia</i> sp.

Kulkarni, Ashwini N.,Bhalkar, Bhumika N.,Khandare, Rahul V.,Kurade, Mayur B.,Jeon, Byong-Hun,Govindwar, Sanjay P. Society for Bioscience and Bioengineering, Japan 2019 Journal of bioscience and bioengineering Vol. No.

<P>Densitometric high performance thin layer chromatography (HPTLC) quantification method was developed to validate the decolorization/biotransformation of Disperse Orange ERL and dye mixture by lichen <I>Parmelia</I> sp. which release several colored compounds during decolorization process, hence unable to use colorimetric estimation. Percent decolorization of Disperse Orange ERL and dye mixture by lichen <I>Parmelia</I> sp. was observed when estimated using developed HPTLC method. Limit of detection and limit of quantification for both dyes in mixture were obtained as 0.3 and 1 μg/μl, respectively. Area of peak of control Disperse Orange ERL was reduced by 43% after 12 h, 71% after 48 h and upto 82% after 72 h of incubation. Precision and repeatability of data elucidated the % relative standard deviation less than 3 for all the values thus indicating statistically acceptable. Biodegradation of dye and mixture was confirmed with Fourier transform infrared spectroscopy analysis, i.e., altered fingerprinting spectral pattern.</P> <P><B>Highlights</B></P> <P> <UL> <LI> Densitometric quantification of textile dyes biotransformation products. </LI> <LI> Quantification of dye in presence of released colored compounds. </LI> <LI> Reported for the first time in dye decolorization studies. </LI> </UL> </P> <P><B>Graphical abstract</B></P> <P>[DISPLAY OMISSION]</P>

Green Synthesis to Develop Iron-Nano Formulations and Its Toxicity Assays

Kulkarni, Smital,Mohanty, Nimain,Kadam, Nitin N.,Swain, Niharika,Thakur, Mansee KOREAN PHARMACOPUNCTURE INSTITUTE 2020 Journal of pharmacopuncture Vol.23 No.3

Objectives: In the past few years, herbal medicines have gained popularity over synthetic drugs because of their natural source and minimal side effects which has led to a tremendous growth of phytopharmaceuticals usage. With the development of nanotechnology, it provides alternative approaches to overcome several limitations using nano-formulations. In spite of considerable quantity of antianemic preparations with different iron forms available, currently additives are used and represented in modern pharmaceutical market. Iron deficiency anemia is a major global public health problem which particularly affects pregnant women, children and elderly persons. The situation is complicated because of disadvantages and drug side effects from existing antianemic medicines. There is a great demand for the development of new antianemic preparations. Green synthesis of iron oxide nanoparticles, possess high potential in this field. Methods: Our study focuses on developing green synthesis of iron oxide nanoparticles (IONPs) of 10-50 nm with spherical shape where different dosages were used -1 mg/kg, 10 mg/kg and 100 mg/kg for exposure in Wistar albino female rats for 28 days. The toxicity was assessed using various parameters such as measurements of the rat body and organ mass, hematology, biochemical evaluation and histopathological examinations. Results: No significant differences were observed in body and organ weights. Hematological indices also indicated no significant differences whereas biochemical factors showed increase in levels of direct bilirubin and globulin of medium as well as high dose and SGPT levels were increased only in high dose. The major organs (heart, kidney and liver) showed histopathological alterations in 10 and 100 mg/kg whereas brain showed only in 100 mg/kg. Conclusion: The toxicity of IONPs was found to be more significant when the concentration was increased; however, low doses can be used for further investigation as an antianemic preparation.

Note: Real time optical sensing of alpha-radiation emitting radioactive aerosols based on solid state nuclear track detector.

Kulkarni, A,Ha, S,Joshirao, P,Manchanda, V,Bak, M S,Kim, T American Institute of Physics 2015 Review of scientific instruments Vol.86 No.6

<P>A sensitive radioactive aerosols sensor has been designed and developed. Its design guidance is based on the need for a low operational cost and reliable measurements to provide daily aerosol monitoring. The exposure of diethylene-glycol bis (allylcarbonate) to radiation causes modification of its physico-chemical properties like surface roughness and reflectance. In the present study, optical sensor based on the reflectance measurement has been developed with an aim to monitor real time presence of alpha radioactive aerosols emitted from thorium nitrate hydrate. The results shows that the fabricated sensor can detect 0.0157 kBq to 0.1572 kBq of radio activity by radioactive aerosols generated from (Th(NO3)4 ??? 5H2O) at 0.1 ml/min flow rate. The proposed instrument will be helpful to monitor radioactive aerosols in/around a nuclear facility, building construction sites, mines, and granite polishing factories.</P>

“Spine Surgery Checklist”: A Step towards Perfection through Protocols

Kulkarni Arvind Gopalrao,Patel Jwalant Yogeshkumar,Asati Sanjeev,Mewara Navin 대한척추외과학회 2022 Asian Spine Journal Vol.16 No.1

Study Design: A retrospective study.Purpose: This study aimed to evaluate the effectiveness of a novel checklist that was designed specifically for the “spine-surgerysubspecialty” to reduce the incidence of some common preventable human errors and major perioperative complications in spine surgery.Overview of Literature: We propose a unique spine surgery-specific checklist that recognizes the risk factors, anticipates the possible human errors, and thus helps in preventing these errors. This checklist is associated with increased patient safety awareness, improved communication (keeps everyone updated regarding their responsibilities), reduction in the surgical claims, and reduction in the number of postoperative complications, including mortality.Methods: This retrospective pilot study was performed at single center on 858 spine surgery patients. The patients were divided into the following two groups: the study group (after implementation of the checklist [2016–2017]) and the control group (before the implementation of the checklist [2015–2016]). The incidence of common preventable human errors and major perioperative complications in spine surgeries were recorded and compared between the two groups.Results: The prevalence of wrong-level surgeries was 0%, and the overall prevalence of the preventable errors was 1.63% (7/428). The rate of adverse, near-miss, and no-harm events was 0.23% (1/428), 0.70% (3/428) and 0.70% (3/428), respectively. The preoperative, intraoperative, and postoperative errors were 0.70% (3/428), 0.23% (1/428), and 0.70 (3/428), respectively. The reoperation rate related to preventable errors reduced after the checklist was used. There were significant differences in the total preventable errors related to complications, such as infections, prolonged hospital stays, and unplanned hospital readmission/revision surgeries (p=0.001)Conclusions: The authors propose the first-of-its kind spine surgery-specific checklist that is comprehensive and involves perioperative parameters. The checklist is easy to use, safe, and effective for reducing the unforgiving errors and perioperative complications. However, its broader implementation would require validation in large, multi-center, randomized control studies.