Jwalant E Waghmare

Prevalence of Y Chromosome Microdeletions in Idiopathic Azoospermia Cases in Central Indian Men.

BACKGROUND Genetic factor is important determinant of human male fertility, it is involved in 10-15% infertile males. Chromosome abnormalities and Y chromosome microdeletions are the main genetic causative factors for infertility. The frequency of male infertility & microdeletions in Y chromosome are also related to ethnic, geographical variations. In this study, we evaluated the prevalence of chromosomal abnormalities and microdeletions of Y chromosome in infertile azoospermia cases in central India to assess the geographical or population based variations. MATERIALS AND METHODS We have studied 160 non-obstructive azoospermia cases to find out frequency of chromosomal abnormalities and Y chromosome microdeletions of AZF locus. G-banding method was used for exclusion of chromosomal abnormalities. One hundred and forty eight azoospermic infertile men were screened using 12 sequence-tagged-sites (STS) primers of AZFa, AZFb, AZFc region and SRY gene (Yp) region by polymerase chain reactions. RESULTS Out of 160 azoospermic infertile males, 12 (7.5%) confirmed chromosomal abnormalities and Klinefelters syndrome was predominantly cause of azoospermia. Of the 148 infertile males, 19 (12.8%) were shown microdeletions in different AZF regions. Deletions in AZFa region were 2.02% and 3.37% was in AZFb whereas high frequencies of deletions (6.08%) in AZFc were recorded in azoospermic males. In two azoospermic males were shown microdeletions in AZFb+c loci. CONCLUSION The prevalence of Y chromosome microdeletions in azoospermic men was 12.8% in this geographical region. Klinefelters syndrome is important cause in male infertility. So, the screening of Y microdeletions is essential.

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.

Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility

INTRODUCTION Mitochondria and mitochondrial DNA are essential to sperm motility and fertility. It controls growth, development and differentiation through oxidation energy supply. Mitochondrial (mtDNA) deletions or mutation are frequently attributed to defects of sperm motility and finally these deletions lead to sperm dysfunction and causes infertility in male. AIM To investigate the correlation between large scale 7436-bp deletions in sperm mtDNA and non-motility of sperm in asthenozoospermia and Oligoasthenoteratozoospermia (OAT) infertile men. MATERIALS AND METHODS The present prospective study was carried out in Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram from June 2014 to July 2016. We have studied 110 asthenozoospermia and OAT infertile men whose semen profile indicated abnormal motility and 50 normal fertile controls. Of 110 infertile men, 70 had asthenozoospermia and 40 had OAT. Fractionations of spermatozoa were done in each semen sample on the basis of their motility by percoll gradients discontinuous technique. Long-range PCR was used for detection of 7436-bp deletions in sperm mtDNA and was confirmed by primer shift technique. RESULTS Overall eight subjects (8/110; 7.2%) of which six (6/70; 8.57%) asthenozoospermia and two (2/40; 5%) OAT had shown deletions of 7436-bp. In 40% percoll fraction had more non-motile spermatozoa than 80% percoll fraction. The non-motile spermatozoa in 40% percoll fractions showed more mtDNA deletions (7.2%) than the motile spermatozoa in 80% percoll fraction (2.7%). The sequencing of flanking regions of deleted mtDNA confirmed 7436-bp deletions. Interestingly, no deletions were found in control subjects. CONCLUSION Though, the frequency of 7436-bp deletions in sperm mtDNA was low in infertile cases but meaningful indications were there when results were compared with controls. It is indicated that large scale deletions 7436-bp of mtDNA is associated with abnormal sperm motility. The 7436-bp deletions of mtDNA in spermatozoa may be one of the important causes of dysfunction and non-motile sperm.

Relation between Renal Length and Renal Volume with PatientâÂÂs BMI: A CriticalAppraisal

In urological and nephrological practices, evaluation of kidney size imparts a valuable diagnostic parameter. Age, gender, body mass index, pregnancy and co-morbid conditions such as diabetes mellitus, hypertension are supposed to affect the renal size. Measurements of renal dimensions can be carried out by using different modern techniques like ultrasonography, CT scan and MRI. On the other hand body mass index (BMI) provides information to know the patient’s obesity which is based on patient’s height and weight. Information available from one particular region may not satisfy the other region as renal parameters varies with different ethnic group and body size. In this prospective, reviewing literature of different studies evaluated so far to predict the relationship between renal dimensions and BMI is carried out. These studies revealed that most of renal parameters were positively correlated with body size of an individual, therefore they can be used to estimate the size and volume of kidney. Moreover, the standard normal reference ranges for renal volume and size can serve as gold standard and acts as an adjunct to judge the atrophic or hypertrophic condition of kidney. Hence, establishing relationship between measured renal dimensions and BMI will serve as a useful guideline for detection of diseased condition of kidney. This paper sets out to present published data on researches that has fortified knowledge and understanding of correlation between different renal parameters and BMI, keeping in mind different demographic background. Thus here we are putting a comprehensive account of the studies carried out globally to establish the inter-relationship between renal dimensions with BMI which definitely helps the nephrologists in early diagnosing the renal diseases.

Unilateral isolated incompletely duplicated ureter

The aim of this study was to report a congenital anomaly in a cadaveric dissection. During routine undergraduate dissection in a middle-aged male cadaver, we found that on the left side, there was a presence of an incompletely duplicated ureter. On the right side the ureter was single in its whole extent. No other congenital anomaly was found to be associated with this. The two limbs of the left ureter joined at about a distance of 5 cm from the bladder wall. A duplicated ureter is commonly found in association with other congenital anomalies and defects. The present case report describes a rare case of an isolated duplicated ureter with a normal kidney, urinary bladder, and renal vessels. This case report adds on to the literature and will be helpful and interesting for the surgeons. The possible embryological reasons for the formation of a duplicated ureter will be discussed.