Publications by authors named "Suyamindra S Kulkarni"

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Background: The most prevalent severe inherited hemorrhagic condition is hemophilia, which means "love of blood." Hemophilia A and B are caused by a lack or malfunction of the factor VIII and factor IX proteins.

Objective: The present study is to determine the prevalence and clinical profile of hereditary coagulation disorder, particularly hemophilia B, in Karnataka.

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Background: The isolation of nucleic acids is a frequently performed procedure in the molecular biology area. Although several rapid DNA isolation techniques from human peripheral blood and saliva have been developed, there are still some disadvantages - volume, time, cost, and yield are a few notable ones.

Objective: We aim to develop a rapid and inexpensive method to isolate high-molecular-weight genomic DNA from human peripheral blood and saliva that can be used for molecular biology experiments.

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Introduction: Isolation of genomic DNA is an initial step in molecular biology techniques. The quality of isolated DNA depends on procedures and chemicals, as well as source and types of the sample used. Several existing procedures are expensive and time consuming.

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 The goal of this research was to investigate the gap junction beta 2 ( ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India.  For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study.

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Trace elements are essential for the human body's various physiological processes but if they are present in higher concentration, these elements turn to be toxic and cause adverse effect on physiological processes. Similarly, deficiency of these essential elements also affects physiological processes and leads to abnormal metabolic activities. There is a lot of interest in recent years to know the mystery behind the involvement of trace elements in the metabolic activities of autistic children suspecting that it may be a risk factor in the aetiology of autism.

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 Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population.

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Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders.

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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 gene have been identified. We aimed to investigate the role of variants in 150 HB patients using sequencing technology.

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India faces 0.5 million malaria cases annually, including half of all malaria cases worldwide. This case-control study assessed socioeconomic determinants of urban malaria in coastal Mangaluru, Karnataka, southwestern India.

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HtrA2, a proapoptotic mitochondrial serine protease, promotes cellular protection against oxidative damage. Literature reports show positive correlation between loss of HtrA2 protease activity and Parkinson's Disease (PD) susceptibility. Homozygous loss-of-function mutations in murine-HtrA2, and when they rarely occur in humans result in severe neurodegeneration and infantile death.

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Non-syndromic sensory neural hearing defect is one of the genetic diseases inherited from parents to offerings. The autosomal recessive form affects a large population worldwide and has become a major concern in the social and professional lives of many people. There are many factors and genes which are involved in hearing loss but the Gap Junction Beta 2 () gene which encodes the connexin 26 protein, is a major cause of non-syndromic recessive deafness (NSRD).

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Micro-RNAs (miRNAs) play a crucial role in immune regulation, and a common miRNA-146a polymorphism (rs2910164) increased the odds of falciparum malaria in pregnant African women. Here, we examined whether this association holds true in a different population, that is, 449 mainly male and adult malaria patients and 666 community controls in southwestern India. malaria (67%) predominated over falciparum malaria (11%) and mixed species infections (22%).

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Background: Duffy blood group antigens serve as receptors for Plasmodium vivax invasion into erythrocytes, and they are determined by polymorphisms of the Duffy antigen receptor for chemokines (DARC), also known as Fy glycoprotein (FY). Duffy negativity, i.e.

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India accounts for approximately half of the global cases, but information as to the presence of chloroquine (CQ) resistance is scarce. In an observational study in Mangaluru, south-western India, of 116 vivax malaria patients analyzed, 89.5% (102/114) had cleared parasitemia on days two or three of CQ treatment.

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In most of India, sulfadoxine-pyrimethamine (SP) artesunate serves as first-line treatment for uncomplicated falciparum malaria. In 112 clinical isolates from Mangaluru, southwestern India, we sequenced molecular markers associated with resistance to SP, lumefantrine, and artemisinin (, , , and ). The double mutation 59R-108N combined with the 437G mutation occurred in 39.

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Background: Severe and fatal vivax malaria is increasingly reported from India. In Mangaluru, southern India, malaria is focused in urban areas and associated with importation by migrant workers. In Wenlock Hospital, the largest governmental hospital, the clinical, parasitological and biochemical characteristics of malaria patients were assessed.

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The identification of the etiology of breast cancer is a crucial research issue for the development of an effective preventive and treatment strategies. Researchers are exploring the possible involvement of Mouse Mammary Tumor Virus (MMTV) in causing human breast cancer. Hence, it becomes very important to use a consistent positive control agent in PCR amplification based detection of MMTV-Like Sequence (MMTV-LS) in human breast cancer for accurate and reproducible results.

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In β-thalassemia, point mutations in the β-globin gene are largely responsible for either decreased or no β-globin synthesis. The β-globin gene has three exons and two introns. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis.

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Background: The aim of this study was to analyze the trends in the incidence rates of four major types of leukemia in the population of North Karnataka, which accounts for the 2.5% of the whole population of India. Due to the lack of any nationwide leukemia screening program, the majority of the people are not aware of the disease.

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Background: In view of conducting HPV vaccination in India it is most important to understand the prevalence of HPV genotypes in this population, not only in squamous cell carcinoma of cervix and oral cavity but also in the general population. In this study we explored the prevalence and distribution of high-risk HPV types 16 and 18 in carcinoma of cervix, saliva of patients with oral squamous cell carcinoma and in general population in Karnataka.

Methods: Cervical cancer specimens after punch biopsy (n=60) were obtained from women attending Karnataka Institute of Medical Sciences and Karnataka Cancer Therapy and Research Institute, Hubli (KCTRI).

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