Meditation & yoga: Impact on oxidative DNA damage & dysregulated sperm transcripts in male partners of couples with recurrent pregnancy loss

Background & objectives: Recurrent pregnancy loss (RPL) is one of the devastating complications of pregnancy and current focus lies in addressing the management of paternal factors. Dysregulation in selective transcripts delivered to oocyte at fertilization can result in pregnancy losses and adversely affect embryogenesis. The objective of this study was to assess the effect of yoga-based lifestyle intervention (YBLI) on seminal oxidative stress (OS), DNA damage and spermatozoal transcript levels. Methods: The present study was a part of a prospective ongoing exploratory study and 30 male partners of couples with RPL were included from August 2016 to June 2017. Semen samples were obtained at baseline and at the end of YBLI (21 days). Gene expression analysis was performed by quantitative polymerase chain reaction on spermatozoal FOXG1, SOX3, OGG1, PARP1, RPS6, RBM9, RPS17 and RPL29. The levels of seminal OS and sperm DNA damage was assessed by measuring levels of reactive oxygen species (ROS) by chemiluminescence and DNA fragmentation index (DFI) by sperm chromatin structure assay. Results: SOX3, OGG1 and PARP1 were observed to be upregulated, while FOXG1, RPS6, RBM9, RPS17 and RPL29 showed downregulation. A significant reduction in ROS levels, an increase in sperm motility, sperm count (done twice) and a decrease in DFI was seen after YBLI. Interpretation & conclusions: Adopting YBLI may help in a significant decline in oxidative DNA damage and normalization of sperm transcript levels. This may not only improve pregnancy outcomes but also improve the health trajectory of the offspring.

Oroxylum indicum– a medicinal plant of North East India: An overview of its nutritional, remedial, and prophylactic properties.

Oroxylum indicum (family: Bignoniaceae) or Broken bones tree, which is distributed throughout India and South East Asia. Oroxylum indicum is known by such regional names as Bhatghila, Tona, Bhut-vriksha, Shyonaka, and Hanyu pinyin. Over the past two decades, many reports have appeared in mainstream scientific journals describing its nutritional and medicinal properties. While much of this recent enthusiasm indeed appears to be justified, it is critical to separate rigorous scientific evidence from anecdote. The present review provides the complete information about literatures of Oroxylum indicum as botanical descriptions, vernacular names, biological activity of plant parts, ethanomedicinal uses and current status of research with scope of investigation of Oroxylum indicum for future research. The structures of twenty eight isolated compounds from different parts of Oroxylum indicum with IUPAC names, molecular formula, formula weight, melting points were also reported in this study.

Mature ovarian teratoma with gliomatosis peritonei--a case report.

Gliomatosis peritonei (GP), a rare condition related to ovarian teratomas, is characterized by miliary implants of mature glial tissues on the peritoneum or omentum. We report herein a case of mature teratoma of the ovary with GP with imaging features and pathological correlation.

Cord blood analysis for prenatal diagnosis of thalassemia major and hemophilia A.

Beta thalassemia and Hemophilia A are common genetic disorders for which prenatal diagnosis (PND) is an accepted option. Our aim was to evaluate cord blood analysis as a method for PND of these disorders. Cord blood samples at 18-26 weeks gestation from nine mothers with previous thalassemia major child and five families with previous hemophilia A were studied. In the former; HbF, HbA2 and HbF were determined by high performance liquid chromatography (HPLC) and in latter; Factor VIII and IX assays were done by one stage method. In HPLC studies for thalassemia, three out of nine fetuses were affected, five were carriers and one was normal. In hemophilia PND samples, 2 out of five fetuses were affected. Thus, HPLC and factor VIII assay in cord blood are feasible alternatives for PND in Beta thalassemia and hemophilia A respectively, especially when DNA analysis is uninformative or there are financial constraints.

Prenatal diagnosis of haemoglobinopathies.

BACKGROUND: Haemoglobinopathies constitute a major health problem in the Indian subcontinent. In the absence of any method for achieving complete cure and treatment being expensive, prenatal diagnosis and selective termination of an affected foetus is a feasible option to decrease the disease load. We report our experience with prenatal diagnosis of haemoglobinopathies over a two-and-a-half year period in 257 pregnancies. MEHODS: Amplification refractory mutation system (ARMS) was used to detect beta-thalassaemia, haemoglobin E and sickle cell mutations. RESULTS: Five mutations in the beta-globin gene which are common in the Indian population were detected in 92.3% of mutant chromosomes, whereas 3.1% of chromosomes carried rare mutations followed by 0.8% haemoglobin E and 0.4% sickle cell mutations. Mutations in 3.3% chromosomes were uncharacterized. The prenatal procedure, carried out early in pregnancy, was a chorionic villus sampling in most cases. A confirmed diagnosis based on ARMS-PCR was given in 241 (93.8%) cases. In 10 cases (3.9%) linkage analysis was required to confirm the foetal status, as mutations in both parents were not identified or the chorionic villus sample carried the single identified mutation. Four families with haemoglobin E-beta thalassaemia and one family with sickle cell disease were also included. Of the study population, 91.25% of the couples had a previous child with haemoglobinopathy, whereas 8.75% of the couples came before the birth of the first affected child. CONCLUSION: We conclude that ARMS-PCR is a highly sensitive technique for detecting mutations in the beta-globin gene and its efficacy in the prenatal diagnosis of haemoglobinopathies is proven.

Port site metastasis subsequent to laparoscopy for chronic pelvic pain.

We present an interesting case of port site metastasis is a menopausal women subsequent to diagnostic laparoscopy undertaken for chronic pelvic pain, which later proved early ovarian malignancy as the source of primary. While cases of port site metastasis have mostly occurred after extensive disease the possbility of such complication should be in mind at laparoscopy of early cancer.

Prenatal diagnosis of Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders seen in children. Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle-wasting disorder leading to death in the second decade of life. In the absence of a cure, prenatal diagnosis (PND) appears to be the best approach to reduce the burden of this disease on the individual family and ultimately on society. There are few published reports worldwide on PND and very few from the developing countries. We report our experience with PND for families with DMD using multiplex polymerase chain reaction (PCR) and microsatellite polymorphic marker analysis. METHODS: From August 1997 to October 1999, PND was offered on request to 23 families with one or two boys affected with DMD. A total of 26 foetuses were screened for DMD. Initially the deletions in the DMD gene in the affected child were identified by multiplex PCR screening for 23 exons in 6 sets. In patients where deletions were not identified, microsatellite repeat analysis was carried out to follow the inheritance of the mutant allele. DNA was extracted from chorionic villus samples obtained by chorionic villus biopsy performed at 10-15 weeks of gestation in 17 families, and at 16-20 weeks in 6 families. RESULTS: Deletions were identified in 20 affected boys. In 2 families, microsatellite repeat analysis was done to identify the mutant allele. Of the 26 foetuses, 5 were found to be affected with DMD and the parents opted for termination of pregnancies. CONCLUSIONS: Multiplex PCR technology and microsatellite repeat analysis can be used effectively for PND of DMD.

Prenatal diagnosis and assessment of fetal malformations by ultrasonography in India.

A multicentre study to assess the status of prenatal diagnosis of fetal malformation in India was conducted. Questionnaires were sent to the teaching hospitals and to centres in the private sector involved with ultrasonography in all the four zones. Data were obtained from 13 centres. Basic level I scans were performed on all pregnant women in 64% centres, whereas level II or targeted scans were performed as routine in 42% centres. Obstetricians performed level II scans in only 35% of cases while rest were performed by radiologists. Malformations of the central nervous system were commonest, accounting for 35-69% of all malformations, followed by genitourinary and gastrointestinal malformations. Malformations of the cardiovascular system were detected in 9.3% as abnormal four chamber view and outlet tract abnormalities, subsequently confirmed on fetal echocardiography. Invasive prenatal diagnosis by fetal blood sampling, chorion villus sampling and amniocentesis for chromosomal analysis of malformed fetuses was performed at 40% centres. At the All India Institute of Medical Sciences, approximately 11,042 ultrasound scans were performed by obstetricians as routine in all pregnant women. A total of 543 malformations were detected accounting for a 4.9% incidence of structural anomalies. A total of 98 cardiovascular malformations were detected in high and low risk pregnant women on fetal echocardiography. No database or registry exists in India to give an actual insight into the problem of congenital malformation and their prenatal diagnosis. It is important to train obstetricians in level I and II ultrasonography, to recognise centres and institutions at national and regional level, and to integrate a network of diagnostic testing. Close liaison between geneticists, radiologists, pediatric surgeons, pediatricians and obstetricians is a must for prenatal diagnosis and management of fetal malformations.

Karyotyping of at risk fetuses by cordocentesis in advanced gestation.

Fetal blood obtained by cordocentesis was cultured to obtain rapid karyotypes of fetuses at risk during the late second trimester. Ninety nine fetal blood samples were studied for chromosomal abnormalities. The commonest indications for the procedure were abnormalities detected on ultrasonography (47.7%), and previous child with Down syndrome. Analysis of the 67 successful cultures showed four (5.9%) karyotypic abnormalities. The technique proved helpful in the obstetrical management of at risk fetuses.