• 제목/요약/키워드: All India Institute of Medical Sciences

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Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach

  • Ray, Manisha;Rath, Surya Narayan;Sarkar, Saurav;Sable, Mukund Namdev
    • Genomics & Informatics
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    • 제20권1호
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    • pp.5.1-5.10
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    • 2022
  • Non-syndromic hearing loss (NSHL) is a common hereditary disorder. Both clinical and genetic heterogeneity has created many obstacles to understanding the causes of NSHL. The present study has attempted to ravel the genetic aetiology in NSHL progression and to screen out potential target genes using computational approaches. The reported NSHL target genes (2009-2020) have been studied by analyzing different biochemical and signaling pathways, interpretation of their functional association network, and discovery of important regulatory interactions with three previously established miRNAs in the human inner ear as well as in NSHL such as miR-183, miR-182, and miR-96. This study has identified SMAD4 and SNAI2 as the most putative target genes of NSHL. But pathogenic and deleterious non-synonymous single nucleotide polymorphisms discovered within SMAD4 is anticipated to have an impact on NSHL progression. Additionally, the identified deleterious variants in the functional domains of SMAD4 added a supportive clue for further study. Thus, the identified deleterious variant i.e., rs377767367 (G491V) in SMAD4 needs further clinical validation. The present outcomes would provide insights into the genetics of NSHL progression.

A Study on Community Perceptions of Common Cancers, Determinants of Community Behaviour and Program Implementation in New Delhi, India

  • Seth, Tulika;Kotwal, Atul;Thakur, Rakesh Kumar;Ganguly, K.K.
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권6호
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    • pp.2781-2789
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    • 2012
  • Assessment of perceptions of the community, the determinants and development of their behavior regarding common malignancies, helps in establishing evidence-based activities for prevention and early diagnosis of cancer. However information on this important aspect is lacking in our country. Qualitative methods were here used to obtain information through in depth interviews and Focus Group Discussions (FGDs) with all categories of identified stakeholders. Most were unaware of the activities of the cancer control program. Even the providers were not fully conversant. All respondents mentioned lack of diagnostic and treatment facilities in government, primary and secondary level facilities. Perceptions of different categories of stakeholders regarding why many community members did not attend screening camps and other services reflect the determinants of community behavior, acting independently as well as in combination. The cancer control program was thought to be restricted only to some private facilities and overcrowded government tertiary care facilities where the visits were time consuming. Almost all the facilities were considered curative oriented. Issues of supervision, monitoring and feedback were inadequately addressed by providers who were inadequately trained in many program activities. The program lacked effective planning, coordination and appropriate implementation at the grass roots level in Delhi. Social mobilization was grossly inadequate, as most of the community members were unaware of the existence of the program. Misconceptions about the risk factors, signs and symptoms, diagnosis, and treatment were common amongst community members as well as many of the providers. Thus the national cancer control program in our country needs further community participation and social mobilization. Accessibility, availability, acceptability and affordability of various preventive, curative and rehabilitative activities, as well as intersectoral coordination, training, supervision and monitoring of program activities, all need to be addressed to ensure the success of this important public health program.

Molecular and Circulatory Expression of Insulin Growth Factors in Indian Females with Advanced Cervical Cancer

  • Sharma, Manoj;Satyam, Abhigyan;Abhishek, Ashu;Khan, Rehan;Rajappa, Medha;Sharma, Alpana
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권12호
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    • pp.6475-6479
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    • 2012
  • Background: Recent studies have demonstrated an association between insulin growth factor (IGF) and insulin growth factor binding protein-3 (IGFBP-III) serum levels and increased risk for various cancers. However, little information is available on clinical implications of the IGF system in Indian patients with cervical cancer. This study explored associations by analyzing their expression profiles in cervical cancer cases. Materials and Methods: Totals of 50 patients with advanced cervical cancer and 40 healthy controls were enrolled. Human papillomavirus (HPV) and cervical biopsy sample were obtained from all participating women. Circulatory levels were estimated by ELISA and the tissue expression was assessed using RT-PCR and Western blotting. Results: Levels of IGF-I and II showed significant increase whereas IGFBP-III showed significant decline in all patients as compared to controls. Spearman correlation analysis between IGFs and HPV status showed significant correlations. Conclusions: We demonstrated elevated circulating levels and tissue expression of IGF-I and IGF-II in advancer cancer cervix patients, as compared with controls, with a converse trend being apparent for IGFBP-III. In future, associations of the IGF system and clinical outcome of cervical cancer patients in post treatment samples might point to significance in disease mapping as a prognostic marker after validation with a larger patient series.

Bilateral thyrolinguofacial trunk: unusual and rare branching pattern of external carotid artery

  • Baxla, Monica;Kumari, Chiman;Kaler, Saroj
    • Anatomy and Cell Biology
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    • 제51권4호
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    • pp.302-304
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    • 2018
  • Prior knowledge of arterial supply to the head and neck is of substantial importance for well-planned surgeries involving the concerned region. We are reporting an unusual and rare variation in the branching pattern of external carotid artery in a 60-year-old female cadaver. A common trunk known as thyrolinguofacial trunk, originating from the anterior surface of the external carotid artery (right and left) giving of superior thyroid artery and a linguofacial trunk during a routine neck dissection. The linguofacial trunk then divided into a lingual and a facial artery. Vascular abnormalities are usually detected either on the dissection table or by the radiologists during imaging or accidently during surgeries leading to serious consequences.

Clinico-Epidemiologic Patterns of Laryngeal Cancer: 5-year Results from a Regional Cancer Centre in Northeastern India

  • Nallathambi, Chandran;Yumkhaibam, Sobita Devi;Singh, Laishram Jaichand;Singh, Thaodem Tomcha;Singh, Indibor Yengkhom;Daniel, Nithinraj
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권5호
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    • pp.2439-2443
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    • 2016
  • Purpose: To determine the risk factors, clinical symptoms and patterns of spread in laryngeal cancer. Materials and Methods: A cross sectional study was carried out in the Regional Cancer Centre, Imphal, Manipur, India. One hundred and sixteen patients with laryngeal cancer were retrospectively reviewed for epidemiological data and descriptive statistics were reported for various variables. Results: Median age at presentation was 65 years and 32.8% were undernourished at presentation. The male to female ratio was 5.4:1. Heavy smoking and tobacco chewing was associated in 91.4% and 33.6% of patients respectively. Tracheostomy was required in 21.5% leading to diagnosis of laryngeal cancer. Almost all were squamous cell carcinoma with neuroendocrine and verrucous carcinoma accounting for less than 2%. Supraglottic, glottic and trans-glottic tumors were 56.9%, 36.3% and 6.9% respectively. Nodal metastases were seen in 81.8% of supraglottic cancers and 31.6% of glottic cancers with supraglottic involvement. Level II neck nodes were the commonest site followed by level III. Distant metastases (only liver) were apparent in 1.7% at presentation. Including these liver metastases, unresectable cases were limited to 6% of the patients. Conclusions: Tobacco use is implicated in almost all of the cases and the sex ratio has also decreased due to increased female smokers. The supraglottis remains the commonest site and incidence of nodal metastases is higher than in other countries. There is also a higher requirement for tracheostomy at presentation in this region.

Comparative efficacy of photo-activated disinfection and calcium hydroxide for disinfection of remaining carious dentin in deep cavities: a clinical study

  • Sharma, Sidhartha;Logani, Ajay;Shah, Naseem
    • Restorative Dentistry and Endodontics
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    • 제39권3호
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    • pp.195-200
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    • 2014
  • Objectives: To comparatively evaluate the efficacy of photo-activated disinfection (PAD), calcium hydroxide (CH) and their combination on the treatment outcome of indirect pulp treatment (IPT). Materials and Methods: Institutional ethical clearance and informed consent of the patients were taken. The study was also registered with clinical registry of India. Sixty permanent molars exhibiting deep occlusal carious lesion in patients with the age range of 18 - 22 yr were included. Clinical and radiographic evaluation and set inclusion and exclusion criteria's were followed. Gross caries excavation was accomplished. In group I (n = 20) PAD was applied for sixty seconds. In group II (n = 20), CH was applied to the remaining carious dentin, while in group III (n = 20), PAD application was followed by CH placement. The teeth were permanently restored. They were clinically and radiographically followed-up at 45 day, 6 mon and 12 mon. Relative density of the remaining affected dentin was measured by 'Radiovisiography (RVG) densitometric' analysis. Results: Successful outcome with an increase in radiographic grey values were observed in all three groups. However, on inter-group comparison, this change was not significant (p > 0.05). Conclusions: PAD and CH both have equal disinfection efficacy in the treatment of deep carious dentin. PAD alone is as effective for treatment of deep carious lesion as calcium hydroxide and hence can be used as an alternative to CH. They can be used independently in IPT, since combining both does not offer any additional therapeutic benefits.

Hemozoin Pigment: An Important Tool for Low Parasitemic Malarial Diagnosis

  • Mohapatra, Sarita;Ghosh, Arnab;Singh, Ruchi;Singh, Dhirendra Pratap;Sharma, Bhawna;Samantaray, Jyotish Chandra;Deb, Manorama;Gaind, Rajni
    • Parasites, Hosts and Diseases
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    • 제54권4호
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    • pp.393-397
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    • 2016
  • Low parasitemic condition in malaria remains a diagnostic challenge; as the available diagnostic methods failed to detect. Currently, hemozoin (Hz) pigment is gaining attention in the diagnosis of malaria. The major drawback is ease of detection of Hz in routine practice. A pilot study was conducted to evaluate the role of Hz pigment and to compare the performance of quantitative buffy coat assay (QBC) and PCR in such conditions. Clinically suspected cases of malaria were examined by both Giemsa stain and immunochromatographic test (ICT). Samples positive by ICT and negative by Giemsa stain were further examined by nested PCR targeting 18S rRNA and QBC for the presence of malaria parasites and pigments. Thirty blood samples fulfilled the inclusion criteria out of which 23 were Plasmodium vivax (Pv), 4 Plasmodium falciparum (Pf), and 3 mixed (Pv and Pf) by immunochromatographic test. Twenty-one out of 30 (70%) were positive by nested PCR in comparison to 25/30 (83%) by QBC. Samples containing both malaria parasites and Hz pigment by QBC completely showed concordance with the PCR result. However, 61% of total samples containing only Hz pigment were observed positive by PCR. Hz pigment remains an important tool for malaria diagnosis. Identification of leukocytes containing pigments by QBC not only indicates recent malarial infections but also puts light on severity of the disease. QBC assay is a rapid, highly sensitive, and cost-effective method to detect malaria parasites and Hz pigment especially in low parasitemic conditions.

Evaluation of Delhi Population Based Cancer Registry and Trends of Tobacco Related Cancers

  • Yadav, Rajesh;Garg, Renu;Manoharan, N;Swasticharan, L;Julka, PK;Rath, GK
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권6호
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    • pp.2841-2846
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    • 2016
  • Background: Tobacco use is the single most important preventable risk factor for cancer. Surveillance of tobacco-related cancers (TRC) is critical for monitoring trends and evaluating tobacco control programmes. We analysed the trends of TRC and evaluated the population-based cancer registry (PBCR) in Delhi for simplicity, comparability, validity, timeliness and representativeness. Materials and Methods: We interviewed key informants, observed registry processes and analysed the PBCR dataset for the period 1988-2009 using the 2009 TRC definition of the International Agency for Research on Cancer. We calculated the percentages of morphologically verified cancers, death certificate-only (DCO) cases, missing values of key variables and the time between cancer diagnosis and registration or publication for the year 2009. Results: The number of new cancer cases increased from 5,854 to 15,244 (160%) during 1988-2009. TRC constituted 58% of all cancers among men and 47% among women in 2009. The age-adjusted incidence rates of TRC per 100,000 population increased from 64.2 to 97.3 among men, and from 66.2 to 69.2 among women during 1988-2009. Data on all cancer cases presenting at all major government and private health facilities are actively collected by the PBCR staff using standard paper-based forms. Data abstraction and coding is conducted manually following ICD-10 classifications. Eighty per cent of cases were morphologically verified and 1% were identified by death certificate only. Less than 1% of key variables had missing values. The median time to registration and publishing was 13 and 32 months, respectively. Conclusions: The burden of TRC in Delhi is high and increasing. The Delhi PBCR is well organized and generates high-quality, representative data. However, data could be published earlier if paper-based data are replaced by electronic data abstraction.

Investigation of Immune Biomarkers Using Subcutaneous Model of M. tuberculosis Infection in BALB/c Mice: A Preliminary Report

  • Husain, Aliabbas A.;Daginawala, Hatim F.;Warke, Shubangi R.;Kalorey, Devanand R.;Kurkure, Nitin V.;Purohit, Hemant J.;Taori, Girdhar M.;Kashyap, Rajpal S.
    • IMMUNE NETWORK
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    • 제15권2호
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    • pp.83-90
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    • 2015
  • Evaluation and screening of vaccines against tuberculosis depends on development of proper cost effective disease models along with identification of different immune markers that can be used as surrogate endpoints of protection in preclinical and clinical studies. The objective of the present study was therefore evaluation of subcutaneous model of M.tuberculosis infection along with investigation of different immune biomarkers of tuberculosis infection in BALB/c mice. Groups of mice were infected subcutaneously with two different doses : high ($2{\times}10^6CFU$) and low doses ($2{\times}10^2CFU$) of M.tuberculosis and immune markers including humoral and cellular markers were evaluated 30 days post M.tuberculosis infections. Based on results, we found that high dose of subcutaneous infection produced chronic disease with significant (p<0.001) production of immune markers of infection like $IFN{\gamma}$, heat shock antigens (65, 71) and antibody titres against panel of M.tuberculosis antigens (ESAT-6, CFP-10, Ag85B, 45kDa, GroES, Hsp-16) all of which correlated with high bacterial burden in lungs and spleen. To conclude high dose of subcutaneous infection produces chronic TB infection in mice and can be used as convenient alternative to aerosol models in resource limited settings. Moreover assessment of immune markers namely mycobacterial antigens and antibodies can provide us valuable insights on modulation of immune response post infection. However further investigations along with optimization of study protocols are needed to justify the outcome of present study and establish such markers as surrogate endpoints of vaccine protection in preclinical and clinical studies in future.

Screening for Breast Cancer in a Low Middle Income Country: Predictors in a Rural Area of Kerala, India

  • Sreedevi, Aswathy;Quereshi, Mariya Amin;Kurian, Beteena;Kamalamma, Leelamoni
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권5호
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    • pp.1919-1924
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    • 2014
  • Background: In India, breast cancer is the leading malignancy among women in a majority of the cancer registries. Therefore it is important to understand screening practices and its predictors, including in rural areas with high female literacy and good health indices. Materials and Methods: A cross-sectional study with multistage sampling was conducted in Vypin Block, Ernakulam district, Kerala, India. Four Panchayats (self administration units) were randomly chosen and a woman in every second household was invited to participate from the tenth ward of each. Thus a total of 809 women were interviewed. Results: The majority of the repondents (82.1%) were not aware of risk factors and about a third (37.9%) were not aware of symptoms of breast cancer. About half of the population studied (46.6%) had undergone screening. Age (35-50 years), being married, health professionals as source of information and working were significant predictors of screening. Logistic regression showed that older women (35-50 yrs) were more likely to practice screening. Out of the never screened, about a third (35%) were desirous of doing it, but had not for various reasons and 53.5% were not willing to screen. The reasons identified for not screening among those desirous of doing it were grouped into knowledge 66 (43.4%), resources 23 (15.1%) and psychosocial 32(21.1%) factors. Unmarried women were significantly more likely to express factors related to all the three domains. Conclusions: This study showed that in spite of the absence of a population-based screening program, about half of the study population had undergone some type of screening. The older women (35-50 years) in particular were significantly more likely to practice screening. At this critical juncture, a high quality breast cancer awareness and screening initiative can help to consolidate the gains and tackle knowledge, resource and psychosocial barriers.