Oxidative stress and its impact on mitochondrial DNA in pulmonary tuberculosis patients- a pilot study.

BACKGROUND: Pulmonary tuberculosis (PTB) remains a major cause of morbidity and mortality all around the world. Recent studies have pointed out increased oxidative stress and also DNA damage in peripheral blood in PTB. Till date, to the best of our knowledge, no study has so far been conducted to show the mitochondrial DNA (mtDNA) deletions mapping in PTB patients. Therefore we performed the present study with the aim to investigate oxidative stress parameters along with mtDNA damage in newly diagnosed untreated PTB patients. MATERIAL AND METHODS: This is a prospective study carried out in Mahatma Gandhi Institute of Medical Sciences, Sevagram,Wardha, Maharashtra during september 2017 to september 2018.Thirty newly diagnosed untreated PTB patients and thirty age matched healthy controls were enrolled in the present study. Analysis of Oxidative stress parameters such as nitric oxide (NO) and malondialdehyde (MDA) were done by calorimetric methods. Assessment of mitochondrial DNA damage was carried out by mtDNA deletions mapping using primer shift long range polymerase chain reaction technique. RESULTS: There was significant increase in levels of oxidative stress parameters, nitric oxide and malondialdehyde, in PTB patients compared to controls (p < 0.01). Generally there are two common deletion sites of "13 bp direct repeats" (ACCTCCCTCACCA) in mtDNA. One at the junction sites from bp 8470 to 8482 bp and another from bp 13447 to 13460 bp which make mtDNA more prone for 4977bp deletion. Out of thirty cases of PTB, two cases showed mtDNA damage in the form of mtDNA deletion of 4977bp. There was no mtDNA deletion in any control which can be attributed to continuous generation of oxidative stress. CONCLUSION: This pilot study has been able to demonstrate that compared to controls, in newly diagnosed pulmonary tuberculosis patients some mtDNA damage did occur and was probably due to continuous generation of oxidative stress in tuberculous patients. However, sample size is too small to draw any conclusions but definitely a more comprehensive study, by recruiting more number of pulmonary tuberculosis patients is warranted to establish correlation between oxidative stress and mtDNA damage in PTB.

A Study on Chromosomal Analysis of Patients with Primary Amenorrhea.

BACKGROUND: Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11-15 years. Chromosome abnormalities contribute as one of the etiological factors in patients with primary amenorrhea. AIMS: The aim of this study was to evaluate the frequency of chromosomal abnormalities and to investigate the abnormal karyotypes in patients referred with the symptom of primary amenorrhea for better management and counseling. SETTING AND DESIGN: One hundred and seventy-four cases of primary amenorrhea were referred from the obstetrics and gynecology department to our cytogenetic laboratory for chromosomal analysis. G-banded chromosomes were karyotyped, and chromosomal analysis of all patients was done. RESULTS: Out of 174 patients, we observed 23 (13.22%) participants with abnormal karyotype. In 23 cases of chromosomal abnormalities, 10 cases were sex reversal female (46,XY) and Turner karyotype (45,X) in 6 females. Other numerical and structural abnormalities were also seen such as 47,XXX; 45,X/47,XXX; 45,X/46, X,dic(X); 46,XX, inv (9); 45,X/46,X,i(Xq); 46,X,mar(X); and 45,X/46,XY in the primary amenorrhea cases. CONCLUSION: This study definitely attests the importance of chromosomal analysis in the etiologic diagnosis of primary amenorrhea patients. Karyotyping will help to counsel and manage the cases of primary amenorrhea in a better way. This study reveals the frequencies and different types of chromosomal abnormalities found in primary amenorrhea individuals and that might help to make the national database on primary amenorrhea in relation to chromosomal aberrations.

Molecular Genetic Study to Detect Prevalence of High-risk Human Papilloma Virus Strains (type 16 and 18) in Cervical Lesions and Asymptomatic Healthy Subjects of Rural Central India.

BACKGROUND: Carcinoma cervix of uterus (CaCx) is the most common malignancy affecting women worldwide. It is an established fact that infection of specific types of human papilloma virus (HPV) is essential for the development of cervical cancer. The present study reports the high-risk viruses (HPV 16 and 18) type distribution in rural central India, which has unique climatic condition. To our knowledge, no molecular study on HPV prevalence has been done in this region of rural population, this intended us do such study. MATERIALS AND METHODS: Sexually active women reporting to the Gynecology were divided in three groups, first being asymptomatic women with normal cervix (52 cases), second group with benign cervical lesion (52 cases), and third group of women with frank cervical malignancy (40 cases). Cervical swabs were collected for HPV DNA sampling. The incidence of HPV positivity was recorded in each group. RESULTS: Fifty-two women with asymptomatic normal cervix showed 44.23% positivity for HPV 16 and 5.76% positivity for HPV 18. Fifty-two women with benign cervical lesion showed 38.46% positivity for HPV 16 and 3.84% positivity for HPV 18. Forty women with frank cervical malignancy were with prevalence of 62.5% for HPV 16 and 22.5% for HPV 18. CONCLUSION: The results of the study are definitely helpful to know the prevalence of HPV in this region of rural population and will enrich the national epidemiological data related to HPV infection in cervical cancer.

Dermatoglyphics and karyotype analysis in primary amenorrhoea.

BACKGROUND: Dermatoglyphics is the scientific study of the skin ridge patterns on the fingers, toes, palms of the hands and soles of feet. Dermatoglyphics is in use as a supportive diagnostic tool in genetic or chromosomal disorders as well as in clinical conditions with genetic etiologies. Primary amenorrhoea and Dermatoglyphics, both have the suspected multifactorial (genetic and environmental) aetiologies. OBJECTIVE: In the present study the finger dermatoglyphic patterns were studied in primary amenorrhoea cases and age matched fertile control females and also attention was given to find out whether a specific dermatoglyphic trait exists in primary amenorrhoea cases and whether it was statistically significant. MATERIALS AND METHODS: To study the role of dermatoglyphics in primary amenorrhoea, a study was conducted on 30 subjects with primary amenorrhoea (as cases) and compared it with equal number of age matched fertile females (as controls). We studied fingertip patterns in all the subjects enrolled. Simultaneously we have assessed the Karyotype of primary amenorrhoea cases. RESULT AND CONCLUSION: Two subjects in experimental group have shown abnormal Karyotypes. The most significant finding in present study was increased total finger ridge count (TFRC) in primary amenorrhoea cases which was statistically significant. We also found higher frequency of loops and arches in primary amenorrhoea with abnormal karyotypes. This type of study may be quite useful as a supportive investigation, in stating the predisposition of an individual to primary amenorrhoea and referral of an individual for karyotyping.