Paternal factors and embryonic development: Role in recurrent pregnancy loss.

The events occurring at the maternal-foetal interface define a successful pregnancy but the current paradigm has shifted towards assessing the contribution of spermatozoa for embryogenesis. Spermatozoa with defective DNA integrity may fertilise the oocyte but affect subsequent embryonic development. The present case-control study was conducted in male partners of couples experiencing recurrent pregnancy loss (RPL) to assess the gene expression of spermatozoal FOXG1, SOX3, OGG1, PARP1, RPS6, RBM9, RPS17 and RPL29. This was correlated with reactive oxygen species (ROS) levels and DNA Fragmentation Index (DFI). Semen samples were obtained from 60 cases and 30 fertile controls. Gene expression was done by qPCR analysis, and relative quantification was calculated by the 2-ΔΔCt method. Chemiluminescence and the sperm chromatin structure assay were used to measure the ROS and DFI levels respectively. FOXG1, OGG1, RPS6 and RBM9 were seen to be upregulated, while SOX3 and PARP1 were downregulated. Relative expression of SOX3, OGG1, RPS6 and RPS17 showed a significant difference between patients and controls (p < 0.05). RPL patients were seen to have high ROS (>27.8; p = 0.001) and DFI (>30.7; p < 0.0001) with respect to controls. Sperm transcript dysregulation and oxidative DNA damage can be "carried over" after implantation, thus affecting embryogenesis and health of the future progeny.

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.

Bilateral Renal Hilar Nutcracker Phenomenon in a Male Cadaver.

Nutcracker phenomenon (NCP) typically refers to the entrapment of the left renal vein (LRV) between the aorta and the superior mesenteric artery. Similar to the classic NCP, the renal vein can also get entrapped between the segmental branches of the renal artery at the renal hilum, which has been referred to as 'renal hilar nutcracker phenomenon (RHNP).' During routine dissection of a male cadaver of 67 years, the renal veins of both sides at the renal hilum were seen between the segmental branches of renal arteries, which we identified as the 'renal hilar nutcracker phenomenon.' The disposition of the rest of the perihilar structures was normal. 'Renal hilar nutcracker phenomenon' can have similar clinical presentation like that of the nutcracker phenomenon. Hence, knowledge of such anatomical variation at the renal hilum is desirable.

Yoga and its effect on sperm genomic integrity, gene expression, telomere length and perceived quality of life in early pregnancy loss.

Achieving successful pregnancy outcomes is a delicate interplay between the maternal and the fetal counterparts. Paternal factors play a critical role in health and disease of offspring. Early pregnancy loss (EPL) is a psychologically devastating condition affecting the quality of life (QOL). Thus, it needs to be managed by a mind body integrated approach like yoga.The prospective single arm exploratory studyincluded male partners of couples experiencing recurrent pregnancy loss (RPL, n = 30), and recurrent implantation failure (RIF, n = 30) and semen samples wereassessed at the beginning and completion of yoga (6 weeks) (WHO 2010).A significant increase in the sperm concentration, motility, decrease in seminal ROS, DFI and increase in relative sperm telomere length was found at the end of yoga. The relative expression of genes critical for early embryonic developmentnormalized towards the levels of controls. WHOQOL-BREF questionnaire scores to assess QOL also showed improvement.Integration of regular practice yoga into our lifestyle may help in improving seminal redox status, genomic integrity, telomere length, normalizing gene expression and QOL, highlighting the need to use an integrated, holistic approach in management of such cases. This is pertinent for decreasing the transmission of mutation and epimutation load to the developing embryo, improving pregnancy outcomes and decreasing genetic and epigenetic disease burden in the next generation.

Environmental and Genetic Traffic in the Journey from Sperm to Offspring.

Recent advancements in the understanding of how sperm develop into offspring have shown complex interactions between environmental influences and genetic factors. The past decade, marked by a research surge, has not only highlighted the profound impact of paternal contributions on fertility and reproductive outcomes but also revolutionized our comprehension by unveiling how parental factors sculpt traits in successive generations through mechanisms that extend beyond traditional inheritance patterns. Studies have shown that offspring are more susceptible to environmental factors, especially during critical phases of growth. While these factors are broadly detrimental to health, their effects are especially acute during these periods. Moving beyond the immutable nature of the genome, the epigenetic profile of cells emerges as a dynamic architecture. This flexibility renders it susceptible to environmental disruptions. The primary objective of this review is to shed light on the diverse processes through which environmental agents affect male reproductive capacity. Additionally, it explores the consequences of paternal environmental interactions, demonstrating how interactions can reverberate in the offspring. It encompasses direct genetic changes as well as a broad spectrum of epigenetic adaptations. By consolidating current empirically supported research, it offers an exhaustive perspective on the interwoven trajectories of the environment, genetics, and epigenetics in the elaborate transition from sperm to offspring.

Split Notochord Syndrome: A Rare Variant.

Split notochord syndrome represents an extremely rare and pleomorphic form of spinal dysraphism characterized by a persistent communication between the endoderm and the ectoderm, resulting in splitting or deviation of the notochord. It manifests as a cleft in the dorsal midline of the body through which intestinal loops are exteriorized and even myelomeningoceles or teratomas may occur at the site. A rare variant was diagnosed on autopsy of a 23+4-week-old fetus showing a similar dorsal enteric fistula and midline protruding intestinal loops in thoracolumbar region. The anteroposterior radiograph showed a complete midline cleft in the vertebral bodies from T11 to L5 region, and a split in the spinal cord was further confirmed by ultrasonography. Myelomeningocele was erroneously reported on antenatal ultrasound. Thus, awareness of this rare anomaly is necessary to thoroughly evaluate the cases of such spinal defects or suspected myelomeningoceles.