RESOLVING THE ENIGMA OF EFFECT OF MOBILE PHONE USAGE ON SPERMATOGENESIS IN HUMANS IN SOUTH INDIAN POPULATION

Objective: This study was aimed at to evaluate the possible risk of radiofrequency and electromagnetic waves of mobile phones on spermatogenic impairment and functional capacity of the spermatozoa along with oxidative stress, DNA damages, and hormone profile among mobile phone users.Methods: Mobile phone users were classified into three groups are 1-5, 6-10, and above 10 hrs/day, respectively, based on the exposure to electromagnetic radiation. Blood and semen samples are collected with informed consent letter. The semen samples used to carry out to the physical examination such as volume, liquefaction time, color, odor, pH, and viscosity, and functional status of the spermatozoa was carried out such as nuclear chromatin decondensation test, hypo-osmotic swelling test, and acrosomal intactness test. Seminal plasma was used for to evaluate the oxidative stress markers superoxide dismutase (SOD) activity, reactive oxygen species (ROS) levels, and total antioxidant capacity (TAC). Blood serum was used to estimate the level of follicle stimulating hormone (FSH), luteinizing hormone (LH), and testosterone. DNA collected from blood used for DNA ladder assay.Results: In the present investigation, both physical and microscopic examinations were negatively correlated with mobile phone usage. No variation exists in functional status of spermatozoa. Oxidative stress markers such as the presence of ROS, enzymatic scavengers such as SOD and TAC showed no statistical variations between control group and mobile phone users and even no variations in hormone profile such as testosterone, FSH, and LH of users of mobile phone compared to normal reference values.  Conclusion: In conclusion, though the literature has suggested that mobile phone use alters semen parameters, functional status of spermatozoa, increased oxidative stress, with subsequent sperm DNA damage in humans. The present study deviates from previous study stating nil impact of mobile phones on spermatogenetic impairment in humans.Keywords: Association of mobile phone usage, Male infertility

Maternal grandmothers with advanced age reproduction are more likely to have Down syndrome grandchildren

Down syndrome (DS), trisomy 21, is the most common chromosomal syndrome that affects one in 600-800 live births. The advanced maternal age is the only well known risk factor to cause DS. Our study revealed that many young mothers produced DS children than advanced age mothers in India. A total of 150 suspected DS cases were investigated cytogenetically. Randomly selected 200 healthy families in South India were used as controls. Logistic regression was performed on case-control dataset which was generated by randomly selecting the child from each of the control families. Pedigree analyses indicated that the maternal grandmothers had advanced age during conception of their daughters who gave birth to DS child. Case-control status was used as dependent variable, whereas parental and grandparental age was used as covariates. Logistic regression was reported as odds ratios, univariate and multivariate. The age of maternal grandmother showed highly significant difference in odds ratio, indicating that the advanced age of maternal grandmother was the possible risk factor.  Therefore, it is important to sort-out the effect of advanced age mothers vs grandmothers on increased frequency of DS reported in different populations

Association of phenylthiocarbamide taste blindness trait with early onset of childhood obesity in Mysore

Ability to taste Phenylthiocarbamide (PTC) a bitter compound is widely used to know the heritable trait in both genetic and anthropological studies. The study is based on the ability of a person to sense the taste of PTC. Inability to taste has also been associated with medical illness not typically with taste impairment, so far no study has yet proved whether PTC blindness correlates with childhood obesity. This study is the first attempt to examine PTC sensitivity in obese children and healthy children to determine variation in the perception of bitter tastes which is associated with eating behavior, body mass index, and childhood obesity. The present investigation is carried out in Mysore, during years 2008 - 2009. Phenylthiocarbamide taste sensitivity was measured by administering PTC solution for obese and control children by modified method of Harris and Kalmus. The result focused that tasters were significantly more frequent (67%) than non-tasters (33%) in control population. A higher proportion of non-tasters were observed in obese children (72%) when compare to non-obese subjects (28%). These differences were not explained by alterations in perception of basic taste sensitivity or age.  Increased frequency of non-taster allele is evident in children with obese condition. This could be due to lack of preference for food among non-tasters. As the phenotypic variation in PTC sensitivity is genetic in origin, it may represent a surrogate risk factor for the development of childhood obesity

Impact of hyperglycaemia on molecular markers of oxidative stress and antioxidants in type 2 diabetes mellitus

Introduction. The pathogenesis of type 2 diabetes mel­litus (T2DM) is strongly linked to oxidative stress mainly caused by chronic hyperglycaemia. The present study investigates the association between hyperglycaemia with oxidative stress markers, antioxidants and lipid profile. Materials and methods. The case-control study in­volved two groups, T2DM patients (n = 83) and age and sex matched controls (n = 81). Serum levels of various molecular markers malondialdehyde (MDA), reactive oxygen species (ROS) and nitric oxide (NO), su­peroxide dismutase (SOD), catalase (CAT), glutathione (GSH), vitamin C, total antioxidant capacity (TAC) and lipid parameters total cholesterol, triglycerides, low density lipoprotein (LDL) and high density lipoprotein (HDL) were measured using spectrophotometric as­says. Results were analysed to compare and correlate glycaemic levels with these molecular markers. Results. T2DM patients had a higher body mass index (BMI) and body fat percentage. 2 hour blood glucose, glycated haemoglobin A1c % (HbA1c), total cholesterol, triglycerides and LDL were higher in diabetics, HDL was found to be lower in diabetics than in controls. Mean levels of enzymatic and non-enzymatic antioxi­dants SOD, CAT, GSH, vitamin C and TAC were signifi­cantly lower while oxidative stress markers NO, ROS and MDA were higher in T2DM patients. NO showed a positive correlation (r = 0.3993, p < 0.0001) whereas TAC showed a negative correlation with glycaemia (r = –0.4796, p < 0.0001). Conclusions. Poor glycaemic control in T2DM causes elevated ROS and NO levels with increased lipid peroxi­dation and lowered antioxidant capacity. MDA and NO being the major risk factors could be used as a param­eter along with antioxidants to assess oxidative stress in T2DM patients

Rare association of multiple etiologies in a severe oligoasthenospermic male

We report a rare case of a 30 year old man diagnosed with severe oligoasthenospermia, where the infertile condition is traced back to a multiple etiologies. Routine semen analysis and sperm function tests followed by hormone analysis are carried out to diagnose the condition as well as the severity. The initial findings prompt us to perform Ultrasound scanning of testis and Trans Rectal Ultrasound Scanning (TRUS) to check the anatomical and functional status of the accessory reproductive organs. Semen analysis and sperm function tests provide an insight into the severity of the condition. The hormonal analysis, Ultrasound scanning of testis and TRUS of accessory reproductive glands confirms the association of hormonal imbalance, testis and accessory gland defects which results in the observed infertile condition with severe sperm defects. A thorough investigation of infertile subjects is essential for appropriate diagnosis and effective personalized treatment owing to the probability of multiple etiologies. Incomplete diagnosis can have adverse effects in treatment and Assisted Reproductive Techniques (ART)

Rare association of turner syndrome with neurofibromatosis type 1 and tuberous sclerosis complex

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XO karyotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant cafe-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome

Overweight and obese men are more prone to infertility-Myth or Fact?

To investigate the association of sub-fertility/ infertility with increased BMI in overweight and obese men and in control group in Karnataka, South India. In this pilot study 20 overweight and obese men, aged 25-45, and 10 normal-weighed men with proven fertility were included. Both groups were married. All cases and controls were evaluated for different semen parameters according to World Health Organization (WHO) standards. Statistical analysis was performed using the SPSS software, version 16.0. P-values less than 0.05 were considered statistically significant. Different infertile conditions are evident among overweight and obese individuals recruited for this study. Variations in the semen parameter are significant in obese men compared to controls but sperm function test does not show statistical significant values in overweight and obese men when compared with control group. In case of oligoasthenospermic subjects pH shows a significant increase (p=0.002) compared to controls. Also the levels of Fructose show a significant decline in both azoospermic (

Influence of advanced age of maternal grandmothers on Down syndrome

BACKGROUND: Down syndrome (DS) is the most common chromosomal anomaly associated with mental retardation. This is due to the occurrence of free trisomy 21 (92–95%), mosaic trisomy 21 (2–4%) and translocation (3–4%). Advanced maternal age is a well documented risk factor for maternal meiotic nondisjunction. In India three children with DS are born every hour and more DS children are given birth to by young age mothers than by advanced age mothers. Therefore, detailed analysis of the families with DS is needed to find out other possible causative factors for nondisjunction. METHODS: We investigated 69 families of cytogenetically confirmed DS children and constructed pedigrees of these families. We also studied 200 randomly selected families belonging to different religions as controls. Statistical analysis was carried out using logistic regression. RESULTS: Out of the 69 DS cases studied, 67 were free trisomy 21, two cases were mosaic trisomy 21 and there were none with translocation. The number of DS births was greater for the young age mothers compared with the advanced age mothers. It has also been recorded that young age mothers (18 to 29 years) born to their mothers at the age 30 years and above produced as high as 91.3% of children with DS. The logistic regression of case- control study of DS children revealed that the odds ratio of age of grandmother was significant when all the four variables were used once at a time. However, the effect of age of mother and father was smaller than the effect of age of maternal grandmother. Therefore, for every year of advancement of age of the maternal grandmother, the risk (odds) of birth of DS baby increases by 30%. CONCLUSION: Besides the known risk factors, mother's age, father's age, the age of the maternal grandmother at the time of birth of the mother is a risk factor for the occurrence of Down syndrome

A journey on y chromosomal genes and male infertility

In the course of evolution Y chromosome has acquired an important role in sex determination owing to the differentiation of the SRY gene from its X homologue. Apart from the functionally specialized SRY gene, the Y chromosome harbors several genes responsible for normal fertility. Three different spermatogenic loci namely AZFa, AZFb and AZFc located in the long arm of Y chromosome (Yq) has the vital role in regulating normal spermatogenesis. A microdeletion occurring in any of these regions is attributed to spermatogenic failure leading to infertility in men. Genetic cause of male infertility is found to be 10-15% and the outcome is diverse ranging from no germ cells (Sertoli Cell Only syndrome) to hypospermatogenesis. Genes arrayed in the AZFc region have testis specific expression and deletion of the AZFc region is most common among the Y micro-deletions in men with azoospennia condition. Among the candidate genes of the AZFc region the deletion involving DAZ is considered to be the frequent cause leading to azoospermia. The mechanism of micro-deletion is found to be the same in case of AZFa and AZFc region. Among these two loci homologous recombination of flanking, identical sequences leads to microdeletion. But in case of AZFb region the proximal and distal breakpoints does not exhibit sequence homology although interspersed repeated sequences exist in proximity to the break points