Publications by authors named "Jwalant E Waghmare"

5 Publications

  • Page 1 of 1

A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.

Andrologia 2021 Feb 11:e14011. Epub 2021 Feb 11.

Centre for Genetics & Genomics, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, India.

The SRY initiates cascade of gene expression that transforms the undifferentiated gonad, genital ridge into testis. Mutations of the SRY gene is associated with complete gonadal dysgenesis in females with 46,XY karyotype. Primary amenorrhea is one of the clinical findings to express the genetic cause in 46,XY sex reversal. Here, we report a 26-year-old married woman presenting with primary amenorhea and complete gonadal dysgenesis. The clinical phenotypes were hypoplastic uterus with streak gonad and underdeveloped secondary sexual characters. The cytogenetic analysis confirmed 46,XY sex reversal karyotype of a female. Using molecular approach, we screened open reading frame of the SRY gene by PCR and targeted DNA Sanger sequencing. The patient was confirmed with nucleotide substitution (c.226C>A; p.Arg76Ser) at in HMG box domain of SRY gene that causes 46,XY sex reversal female. Mutation prediction algorithms suggest that alteration might be disease causing mutation and mutated (p.Arg76Ser) amino acid deleteriously affects HMG box nNLS region of SRY protein. Clinical phenotypes and in silico analysis confirmed that missense substitution (p.Arg76Ser) impaired nNLS binding Calmodulin-mediated nuclear transport of SRY from cytoplasm to nucleus. The mutation affects down regulation of male sex differentiation pathway and is responsible for 46,XY sex reversal female with gonadal dysgenesis.
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February 2021

Chromosomal Aberrations in Couples with Pregnancy Loss: A Retrospective Study.

J Hum Reprod Sci 2018 Jul-Sep;11(3):247-253

Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India.

Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%-8% of couples with recurrent pregnancy loss. The chromosomal abnormality, especially balanced translocation rearrangement in either parent, is the important cause of recurrent spontaneous abortion.

Aims: The aim of this study was to investigate the role and prevalence of chromosomal anomalies in recurrent miscarriages. The results will be helpful for counseling and make the decision for alternative options and precaution for the affected couples and also support to make a national database.

Settings And Design: The present retrospective study was carried out in 172 couples (344 individuals) having the history of three or more recurrent spontaneous abortion. The cytogenetic analysis was done in all 344 individuals using G-banding and karyotyping.

Results: Out of 172 couples, 17 couples (9.88%) had different types of structural or numerical chromosomal abnormalities. The structural aberrations were observed in 15 (8.72%) couples, and numerical aberrations were seen in 2 (1.16%) couples. Out of 17 couples, 8 (47.05%) had balanced translocations, 2 (11.76%) had the Robertsonian translocation, 5 (29.41%) had the pericentric inversion of chromosome 8, 9, and Y, and only 2 (11.76%) women showed sex chromosome numerical aberrations.

Conclusions: Cytogenetic analysis should be an important routine investigation in couples with repeated miscarriages. Cytogenetic analysis is essential and helpful for genetic counseling to take precaution and implementing proper reproductive alternatives. Studies on the genetic basis of pregnancy loss should be taken up to generate data on these issues from different regions.
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December 2018

Computed Tomographic Estimation of Relationship between Renal Volume and Body Weight of an Individual.

J Clin Diagn Res 2017 Jun 1;11(6):AC04-AC08. Epub 2017 Jun 1.

Professor and Head, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India.

Introduction: Knowledge of normal range of size and volume of abdominal organs plays a vital role in clinical practices as various medical conditions affects the abdominal organs causing alteration in their dimensions.

Aim: The present retrospective study was done to establish the normal range of renal volume in study population and to see the correlation between renal volume and body weight of an individual.

Materials And Methods: Computed tomographic evaluations of kidneys were performed on 140 kidneys of 70 individuals who had undergone abdominal CT scan for indications other than renal disease. We also excluded the patients diagnosed to have renal cysts, hydronephrosis or other renal diseases on CT examination. Renal length, width and depth were measured. Renal volume of both the kidneys was calculated by formula Kidney Volume (KV) =Л/6 x Renal length (L) x Renal width (W) x Renal depth (D). Various body parameters like age, weight, sex were also recorded in the data sheet.

Results: Mean renal volume for the right kidney was 83.26±18.33 cm for females (33 females out of 70) and 103.92±23.27 cm for males (37 males out of 70). However, mean renal volume for the left kidney was 89.17±19.41 cm in females and 106±26.79 cm in males. Left renal volume was apparently more than right renal volume, though statistically insignificant. In males, mean kidney volume was found to be 104.96 cm whereas in females, it was found to be 86.21 cm. Kidney volume was found to be significantly greater in males than females among study population (t=3.79, p=0.0001). Renal volume significantly correlated with age and body weight of an individual.

Conclusion: This study is a sincere attempt to establish a normograms of renal volume in study population. For the clinical assessment of renal pathologies, knowledge of renal volume is a vital parameter. In study group, most significant parameter associated with renal volume is body weight which can be used as an adjunct while evaluating renal pathological conditions. Of all the radiological imaging techniques, abdominal coronal computed tomography scan provides most accurate renal measurements.
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June 2017

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

J Clin Diagn Res 2016 Nov 1;10(11):GC09-GC12. Epub 2016 Nov 1.

Professor, Department of Anatomy, Human Genetic Division, (Cytogenetics and Molecular Genetics), Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .

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.
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November 2016

Dermatoglyphics and karyotype analysis in primary amenorrhoea.

J Clin Diagn Res 2014 Dec 5;8(12):AC13-6. Epub 2014 Dec 5.

Professor, Department of Cytogenetics, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .

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.
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December 2014