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Identical twins often don’t share 100% of their DNA

Identical twins often don’t share 100% of their DNA

Identical twins may not in fact be genetically identical at birth, according to a new study by researchers in Iceland.

Researchers found that twin-specific genetic mutations could occur while embryos were still developing inside the womb. The team were also able to pinpoint at which stage in development the mutations occurred, by searching for them in relatives of the twins. The study provides new insights into how monozygotic or ‘identical’ twins form from a single egg cell.

‘These are exciting times that allow us to use mutations to shed light on the development of humans at these first stages,’ said Dr Kári Stefánsson, joint senior author and CEO of deCODE Genetics in Reykjavik, Iceland, where the research was carried out.

The study, published in Nature Genetics, analysed DNA sequences from the germline genomes of 381 pairs of monozygotic twins. The team found that on average, twins differed by 5.2 early-development mutations, with 15 percent of twins having a significant number of genetic changes from each other. Although 38 twin pairs were genetic duplicates, in 39 pairs more than 100 genetic differences were found between twins.

In addition, DNA from parents, spouses, and children of the twins was sequenced, which helped determine when in development the mutation occurred. For instance, if a mutation also appeared in a twin’s child, that meant it was present in the twin’s germ cell, which forms very early in embryo development.

In one twin pair, the cells of one individual all contained a mutation that was only found in 20 percent of their siblings’ cells. This demonstrated that while one twin descended from a single cell during early development, the other was formed from a mixture of different cell lineages. Dr Stefánsson concluded that these results could allow researchers ‘to begin to explore the way in which twinning happens.’

He added that ‘it looks like coincidence is an extraordinarily important factor in which cells in the inner cell mass go into making a person’, suggesting zygotes may not split into twins in a symmetrical way.

Although not all genetic mutations impact phenotype, the findings challenge the theory that twin-specific differences such as disease occurrence are solely down to environmental factors. Speaking to the Guardian, geneticist Professor Jan Dumanski at Uppsala University in Sweden, who was not involved in the study, called it ‘a clear and important contribution’ to medical research. Psychologist Professor Nancy Segal at California State University, Fullerton, also not involved in the research, said the findings will further understanding of the influences of nature versus nurture.

‘This will force scientists to refine our thinking about the influences of genetics and environment,’ she said. ‘Twins are very alike but it is not a perfect similarity.’

Read more: https://www.nature.com/articles/s41588-020-00755-1

Source: https://www.bionews.org.uk/page_153946

Researchers isolate high-quality sperm using acoustic waves

Researchers isolate high-quality sperm using acoustic waves

Monash University researchers have combined acoustic waves and fluid dynamics to create a new approach for separating high-quality sperm in assisted reproduction – opening new windows for infertile couples to have a family of their own.

This rapid and automated acoustofluidic process, developed by a team from Monash University’s Department of Mechanical and Aerospace Engineering, can isolate sperm with normal head morphology and high DNA integrity from raw semen samples.

The device can process roughly 140 sperm per second and select more than 60,000 high-quality sperm in under 50 minutes – a clinically-relevant number of sperm to perform IVF (In Vitro Fertilisation) and ICSI (Intracytoplasmic Sperm Injection).

This life-changing research, published in the leading microfluidic journal Lab on a Chip, was led by second-year Ph.D. student Ms Junyang Gai. The work has been supervised by Dr Reza Nosrati and Professor Adrian Neild – experts in microfluidics from the Department of Mechanical and Aerospace Engineering.

The approach isolates sperm from raw semen by applying an acoustic field at a 30° angle to the flow direction. The acoustic forces direct and push high-quality sperm out of the mainstream, across the microchannel and isolates them in a separate outlet, leaving the general population of sperm in the raw sample.”

With the application of SSAW (standing surface acoustic waves) at 19.28 MHz and 1-2W, the acoustic radiation force was large enough to overcome the drag and guide the motile sperm to swim across the microchannel width, while other sperm and debris followed the mainstream flow to be collected from the discarded outlet.

This enabled a continuous, high-throughput, and size-dependent selection process for isolating high-quality sperm.

“Our results demonstrate that the selected sperm population exhibit a considerably higher percentage of progressively motile sperm (83 per cent), than both the initial raw sample (52 per cent) and the discarded subpopulation of sperm (36 per cent),” Ms Gai said.

The result is the selection of sperm with over 60 per cent improvement in progressive motility (the ability for sperm to move independently), while providing a clinically-relevant sample for IVF and ICSI. Sperm selected from this approach also show a near 40 per cent improvement in DNA integrity.

Dr Nosrati says the success rate depends on many different parameters, but ultimately, it is down to the quality of sperm and egg.

“Our process aims to select better sperm within a faster time frame, so hopefully this can lead to improved outcomes in assisted reproduction. When fully tested and implemented, this method could open new windows and opportunities for infertile couples to have a baby,” Dr Nosrati said.

“We hope that with further testing, our acoustofluidic sperm selection process can provide new opportunities and be of benefit to the assisted reproduction industry, and help remove the fear, anxiety and negative stereotypes associated with infertility.”

The infertility rate has increased over the past 50 years, with one in six couples experiencing infertility. Male infertility is responsible for about 30 per cent of cases, with a combination of male and female factors contributing to about half of cases, worldwide.

“Male infertility is a global reproductive issue and several clinical approaches have been developed to tackle it. However, their effectiveness is limited by the labour-intensive and time-consuming sperm selection procedures used,” Dr Nosrati said.

Sperm preparation or selection is a key step in assisted reproduction being performed right before fertilising the egg.

The current clinical process involves multiple washing and centrifugation steps and a manual selection step, and takes up to three hours to complete, which can also be harmful to sperm.”

Professor Neild says the method of sperm selection hasn’t changed much over the past 30 years, selecting sperm mainly based on motility, and as a result, the success rate of assisted reproduction cycles has plateaued at about 33 per cent.

“Our approach also considers sperm size and morphology during the selection process, in addition to sperm motility. With further research, hopefully our approach can improve the outcomes of assisted reproduction and reduce the costs associated with the treatment cycle,” Professor Neild said.

Professor Neild is a world expert in acoustofluidics with many important contributions to the field over the past 15 years. Dr Nosrati is a pioneer in microfluidics for assisted reproduction and has developed technologies for sperm selection and analysis over the past six years.

Read more: https://pubs.rsc.org/en/content/articlelanding/2020/LC/D0LC00457J#!divAbstract

Cell-free DNA blood tests may help predict pregnancy complications

Cell-free DNA blood tests may help predict pregnancy complications

UCLA researchers say a blood test commonly used to detect fetal genetic abnormalities may help predict complications associated with pregnancy before symptoms develop.

Their preliminary study, appearing in Epigenetics, links certain cell-free DNA signatures to adverse outcomes in pregnancy, including ischemic placental disease and gestational diabetes.

The findings are the first to show that genetic material shed from the placenta into the mother’s blood (circulating cell-free nucleic acids) during the first trimester of pregnancy could potentially be used to predict these potentially serious complications.

Although the analysis of genetic material in the mother’s blood has been used to screen for genetic abnormalities in a pregnancy, this is the first time these specific methods have been used as a way of a more accurate prediction.

Our research points to a promising approach that could improve outcomes for mothers and their babies using existing technologies. If confirmed in larger studies, cell-free DNA blood tests may help identify issues in the placenta as an indicator of a healthy mother and fetus.”

Researchers followed a diverse group of pregnant women between February 2017 and January 2019, testing their blood periodically throughout gestation. By the end of the study, 160 participants had given birth, with 102 maternal and 25 cord plasma samples taken along the way.

They found that during the first-to-early second trimester, placenta-specific DNA increased among those women who went on to develop gestational diabetes. They also identified several differently expressed genes and were able to create a model with a predictive value for adverse pregnancy outcomes.

“The novelty of this research is being able to break down a mother’s DNA and be able to hone in on the health of the placenta – something that researchers have never been able to do before,” added Devaskar. “This research warrants application of automated methodologies in multi-center trials to improve future testing and screening for all women.”

Read more: https://www.tandfonline.com/doi/full/10.1080/15592294.2020.1816774

Scientists discover possible genetic target for treating endometriosis

Scientists discover possible genetic target for treating endometriosis

Michigan State University researchers have identified a potential genetic target for treating an especially painful and invasive form of endometriosis.

Their study published in Cell Reports, a scientific journal, could lead to better treatments for women suffering from severe forms of endometriosis, said Mike Wilson, a postdoctoral fellow in the MSU College of Human Medicine. Wilson and Jake Reske, a graduate student in the MSU Genetics and Genome Sciences Program, are first authors of the study.

Their research focused on a type of endometriosis that occurs in women who have a mutation in a gene called ARID1A, which is linked to the more invasive and painful form of the disease.

When ARID1A is mutated, so-called “super-enhancers,” a part of the DNA that determines the function of cells, run wild, Reske said. This allows the cells that normally line the uterus to form deep implants outside the uterus and cause severe pelvic pain.

“There haven’t been many successful nonhormonal therapies for this form of endometriosis that have made it to the bedside yet,” Reske said.

In laboratory experiments, he and Wilson tested a drug that appeared to target the super-enhancers and stop the spread of endometriosis. Such a drug — part of a new type of treatment called “epigenetic therapy” that controls how genes are expressed — could be far more effective than current treatments, including surgery, hormone therapy and pain management.

Endometriosis, particularly the kind associated with the ARID1A mutation, can be debilitating for many women, often leading to infertility.

“It can seriously impact women’s quality of life and their ability to have a family and work,” said Ronald Chandler, an assistant professor of obstetrics, gynecology and reproductive biology, who supervised the study. “It’s not easy to treat, and it can become resistant to hormone therapy. The most clinically impactful thing we found is that targeting super-enhancers might be a new treatment for this deeply invasive form of the disease.”

The drug they studied targeted a protein in cells called P300, suppressing the super-enhancers and offsetting the effects of the ARID1A mutation, Wilson said. The same type of treatment could be used to treat other forms of endometriosis, he said.

The researchers already are planning follow-up studies to find other drugs that could target P300, Wilson and Reske said.

The MSU team collaborated with Van Andel Institute researchers, providing them with tissue samples for VAI scientists to analyze with a machine called a next-generation sequencer.

Read more: https://linkinghub.elsevier.com/retrieve/pii/S2211124720313553

Researchers have begun recruiting for a study looking at the impact of the COVID-19 vaccine on male fertility

Researchers have begun recruiting for a study looking at the impact of the COVID-19 vaccine on male fertility

University of Miami Miller School of Medicine is the first institution studying the effects on sperm of men who receive the vaccine, according to the study’s principal investigator, Ranjith Ramasamy, M.D., associate professor and director of reproductive urology.

Based on the mechanism by which mRNA acts, we do not expect the COVID-19 vaccines will have an impact on male fertility. But obviously we want data to confirm that hypothesis,” Dr. Ramasamy said.

The Miller School is recruiting men ages 18 to 50 years old who are scheduled to get the COVID-19 vaccine.

We are going to evaluate sperm production and sperm quality for men who are thinking about fertility either at present or in the future and will receive the COVID-19 vaccine,” said Daniel Nassau, M.D., a urology fellow at the Miller School who helped spearhead the study. “We want to see if there is any decrease in sperm production or quality. We will look at a semen sample before they get the vaccine and then at three and six months thereafter.”

Conducting such a study is important for a public that’s eager for information about the COVID vaccine, which has been approved by the Food and Drug Administration (FDA) under Emergency Use Authorization.

It is very important that everyone in America and around the world receive the vaccine for COVID-19,” Dr. Nassau said. “We are hoping and think this study will help confirm the vaccine’s safety in terms of male fertility.”

The FDA’s Emergency Use Authorization for the Pfizer vaccine means that it has been evaluated and shown to be safe and effective. The Moderna vaccine, for which the Miller School was a clinical trial site, is currently under review by an FDA panel. To gain approval, any vaccine must have been tested in large clinical trials, scientifically showing that it is indeed safe and efficacious against the coronavirus.

Because the vaccine was approved under Emergency Use Authorization, it is not mandatory for health care workers or others.

That is why we are doing this study, to go back and test the vaccine for safety in male fertility so it can educate, and possibly reassure, the public,” Dr. Ramasamy said. “The companies providing the vaccine can then use this and other data to possibly move forward with the FDA’s full authorization for use.”

The Miller School researchers anticipate that they will have at least preliminary data by the time most of the population is able to get the vaccine, around spring 2021.

Dr. Ramasamy and colleagues at the Miller School are studying the impact of COVID-19 on sperm and have found the virus, itself, impacts sperm quality.

Our group and others have confirmed that the COVID-19 virus can affect sperm production inside the testes. We have shown that long after the infection is gone and when men who have had the virus become asymptomatic, the virus can continue to linger inside the testes,” Dr. Ramasamy said. “So, I think the question on how COVID-19 affects fertility remains to be answered and certainly is worthy of exploration in future studies.”

More information on the COVID-19 vaccine study on male fertility is available here: https://www.clinicaltrials.gov/ct2/show/NCT04665258

Men over 50 have same success with vasectomy reversal outcomes as younger men

Men over 50 have same success with vasectomy reversal outcomes as younger men

In recent decades, the age of men who father children has increased. However some older would-be dads face a stumbling block because they have undergone vasectomies.

In good news for older men, a study from Keck Medicine of USC published in Urology shows that men over 50 who undergo a vasectomy reversal had the same rate of pregnancy with their partners as their younger counterparts. Contrary to what one might expect, the man’s age was not a factor.

“These results are exciting for men looking to start families later in life who have had a vasectomy,” said Mary Samplaski, MD, a male infertility specialist with Keck Medicine and the lead investigator of the study. “This research is especially timely because anecdotally, fertility doctors are seeing an increase in the number of men interested in vasectomy reversals as couples focus on family planning during the COVID-19 pandemic.”

For couples wanting to pursue a pregnancy after a vasectomy, two main options exist: vasectomy reversal and sperm extraction with in vitro fertilization (IVF). “IVF can come with unique risks, such as psychological distress and multiple births, plus typically costs more than a reversal, making the reversal the best choice for some couples,” said Samplaski.

Approximately 20% of American men who undergo a vasectomy will want to father children in the future, and some 6% will request a reversal, research shows. But up until now, little data has existed regarding the effect of paternal age on reversal outcomes.

In the study, Samplaski and colleagues analyzed the results of some 3,000 men over 50 and 350 men under 50 who underwent a vasectomy reversal at two separate locations, one of which was Keck Hospital of USC. The surgeries were performed by a single high-volume surgeon. The mean age for the over-50 group was 54, and for the under-50 group, 39.

Of the younger cohort, 33.4% of couples achieved pregnancy; in the older male population, 26.1%. However, the study also looked at several other factors, such as how many years ago the man received the vasectomy, the age of the female partner and if the man smoked. When the woman was under 35 and/or the man had the vasectomy less than 10 years ago, the odds of getting pregnant were higher. Smoking decreased the odds.

“When we did a statistical analysis, and examined all these other factors involved, the data showed that age had no bearing on success,” said Samplaski. “Male age was not an independent factor.”

For example, one reason older men were statistically less successful than younger ones in reaching pregnancy was because men with advanced age tend to have older female partners.

Looking forward, Samplaski hopes that men of a certain age will not be discouraged from having a vasectomy reversal. “The bottom line is, men over 50 can have successful outcomes in achieving pregnancy after a vasectomy reversal, and it should be considered a very viable option,” she said.

Read more: https://www.goldjournal.net/article/S0090-4295(20)30981-X/fulltext

Source: https://www.sciencedaily.com/releases/2020/12/201217090429.htm

Preeclampsia-related placental gene expression may be associated with vitamin D status

Preeclampsia-related placental gene expression may be associated with vitamin D status

According to the World Health Organization, preeclampsia affects between 2% to 8% of pregnancies. It can cause serious, sometimes fatal, complications in the mother and child. Among other risk factors, such as obesity and diabetes, vitamin D deficiency during pregnancy has been associated with an increased risk of preeclampsia.

In an article in Pregnancy Hypertension, a team of researchers at the Medical University of South Carolina (MUSC) found that expression of a set of genes previously studied in the setting of early onset and severe preeclampsia is significantly affected by vitamin D status during late-stage pregnancy.

Exactly how preeclampsia develops is unclear. Recent evidence points to poor development of blood vessels in the placenta – the organ that nourishes the fetus throughout pregnancy. This leads to hypertension and several other complications in the mother. The only cure for preeclampsia is to deliver the fetus, which can be dangerous if done too early.

In a previous study the research team led by Kyu-Ho Lee, M.D., Ph.D., assistant professor in the departments of Pediatrics and Obstetrics and Gynecology at MUSC found that the expression of three genes – NKX2-5, SAM68, and sFLT1 – are highly correlated in the setting of early-onset and severe preeclampsia (EOSPE), with sFLT1 being an identified marker for preeclampsia risk. In the current study, the authors examined the expression of these genes in healthy pregnant women.

Having observed the correlated expression of these genes in preeclampsia, we wanted to see the pattern of expression of these genes in normal pregnancy. We had a secondary goal of seeing whether vitamin D status affected the expression of these genes”, sain Kyu-Ho Lee.

The sFLT1 protein interferes with the activity of vascular endothelial growth factor (VEGF), which is an important regulator of blood vessel development. This reduces vascular growth in the placenta. The amount of sFLT1 in the placenta is regulated in part by SAM68 and NKX2-5, also known as the tinman gene. This hypothesized NKX2-5/SAM68/sFLT1 gene “axis” may contribute to the development of preeclampsia.

“NKX2-5 might be controlling the regulation of sFLT1 and SAM68 in such a way that in preeclampsia, the expression levels of those genes go awry and tilt the vascular development in a direction that might trigger preeclampsia,” said Lee.

Vitamin D affects many aspects of the mother’s health during pregnancy. To investigate how the gene axis is affected by maternal vitamin D status, Lee’s team studied placental samples from 43 pregnant women enrolled in a clinical trial. Half of the women received a high dose of vitamin D3 (4,000 IU/day), and the other half received a placebo.

In contrast to their previous study, the team did not detect significant levels of NKX2-5 in placental tissue samples before a healthy delivery. This finding suggests that NKX2-5 expression is important in early at-risk pregnancies but not healthy pregnancies. However, the team did observe a strong positive correlation between SAM68 and sFLT1 in all study participants.

The tight correlation between SAM68 and sFLT1 makes us think that there’s a functional relationship between these genes,” said Lee.

Interestingly, when assessed at the last visit before delivery, women who were vitamin D deficient (<100 nmol/L of the vitamin D metabolite 25[OH]D) had significantly higher expression of sFLT1 and lower expression of VEGF in the placenta than women who were vitamin D sufficient.

This study provides novel insight into the activity of the NKX2-5/SAM68/sFLT1 gene axis during healthy pregnancies in a diverse group of women and how it may be affected by the vitamin D status of the mother.

These results raise the possibility that vitamin D somehow directly regulates sFLT1 and/or SAM68 expression at some level,” said Lee. “However, at this point, we haven’t addressed the exact molecular relationship.”

Future studies might investigate the relationship between vitamin D status and the expression of sFLT1 and SAM68 in mothers diagnosed with preeclampsia.

“Ideally, you would want a study with an equal number of diseased versus control pregnancies that had differential levels of vitamin D,” said Lee. “Then we could look at the incidence of disease in correlation to the levels of vitamin D they achieved and the amount of gene expression that we had observed.”

The team’s current findings contribute to a basic biological understanding of the development of pregnancy and preeclampsia. Lee believes that this understanding will improve the standard of care for treating preeclampsia.

“We can begin to develop clinical markers that would help us gauge the health of a pregnancy during its course,” said Lee. “This could provide warning signs for an increasing risk of pregnancy complication.”

Read more: https://www.sciencedirect.com/science/article/abs/pii/S2210778920301203?via%3Dihub

Source: https://www.news-medical.net/news/20201110/Preeclampsia-related-placental-gene-expression-may-be-associated-with-vitamin-D-status.aspx

Impact of opioids in women with endometriosis

Impact of opioids in women with endometriosis

The risk of opioid use after endometriosis diagnosis is significantly greater in patients who used opioids before diagnosis, according to a retrospective analysis of data from a large health database.

The analysis in the Journal of Comparative Effectiveness Research also found that the risk of prolonged opioid use was significantly greater if comorbidities existed before diagnosis.

Senior author Georgine Lamvu, MN, MPH, a professor of ob/gyn at the University of Central Florida College of Medicine in Orlando, was prompted to undertake the analysis after a colleague remarked to her that he did not believe that women with endometriosis used opioids.

In my practice, I had seen many women with endometriosis who reported using opioids, so I was curious to find out the actual numbers,” Lamvu told Contemporary OB/GYN.

Medical and pharmacy claims information on 79,947 women with endometriosis from July 2015 to June 2018 were analyzed from the Symphony Health database.

The date of the first endometriosis diagnosis was deemed the index date and the 1-year period preceding the index data was considered the baseline period.

Women were aged 18 to 49 at the index date and had continuous pharmacy and medical enrollment for at least 1 year before and after their endometriosis diagnosis; in other words, at least one pharmacy claim every 3 months during the study period.

Women with endometriosis who used opioids at baseline were 61% more likely to receive opioids post-diagnosis.

The risk of prolonged opioid supply post-diagnosis was highest among women with a prolonged supply at baseline: relative risk (RR) 21.14, which significantly decreased to 1.32 for patients without a prolonged supply but with at least one comorbidity, 1.37 for pain comorbidities and 1.07 for psychiatric co-morbidities.

I was surprised to find out how many women with endometriosis actually used opioids beyond 90 days,” Lamvu said. “All the other findings were expected.”

There is limited evidence to indicate that long-term opioid therapy is effective in treating other chronic pain conditions and no research to validate that opioids are efficacious for endometriosis-related pain.

Nonetheless, the risk of opioid-related adverse events correlates with the dose and duration of opioid use,” Lamvu said. “This can lead to opioid-induced hyperalgesia, which counterproductively amplifies pain.”

In addition, high daily doses and prolonged use of opioids for chronic non-cancer pain can increase the risk of opioid abuse. More definitive is that comorbid psychiatric disorders in patients with chronic pain conditions like low back pain are linked to opioid misuse.

The high prevalence of psychiatric comorbidities in patients with endometriosis suggests that this population may be vulnerable to opioid misuse,” Lamvu said.

Optimal endometriosis treatment should encompass a patient-centric strategy, according to Lamvu, integrating pharmacologic and surgical options to manage symptoms, in conjunction with therapies to improve health-related quality of life.

Multi-disciplinary care with adequate management of comorbidities could optimize endometriosis treatment and reduce inappropriate or excessive treatment with opioids,” Lamvu said.

The analysis identifies a group of women who need specific counseling on the risks of long-term opioid use. “However, because we have no research that shows that opioids are effective for endometriosis-related pain, we need more research on this topic,” Lamvu said. “Also, because many women with endometriosis have surgery, post-op opioid use needs to be discussed with caution.”

https://www.futuremedicine.com/doi/full/10.2217/cer-2020-0181

Postoperative outcomes after surgery for deep endometriosis of sacral plexus

Postoperative outcomes after surgery for deep endometriosis of sacral plexus

Laparoscopic management of deep endometriosis involving the sacral roots and the sciatic nerve improves patient symptoms and overall quality of life, according to a retrospective case series.

The study in the Journal of Minimally Invasive Gynecology also concluded that although pain reduction may be rapid following surgery, other sensory or motor complaints might persist for months to years.

The study assessed 1-year postoperative outcomes in patients managed for big endometriosis nodules involving the sacral plexus, which control bowel and bladder function, motility and sensitivity of perineum, buttock and inferior leg,” said principal investigator Horace Roman, MD, PhD, an endometriosis surgeon at the Endometriosis Center of the Clinic Tivoli-Ducos in Bordeaux, France.

The study comprised 52 women managed by Dr. Roman in three nearby referral centers, for deep endometriosis involving the sacral roots and the sciatic nerve from October 2016 to April 2019.

Deep endometriosis involved the sacral roots in 94.2% of cases and the sciatic nerve in the remaining 5.8% of cases. Sciatic pain (buttock or leg) was observed in 82.7% of cases, pudendal neuralgia in 21.2% and leg motor weakness in 27% of cases.

For surgical procedures of the pelvis nerves, Dr. Roman performed complete releasing and decompression in 48 patients (92.3%), excision of epineurium by shaving in three patients (5.8%) and intraneural excision in one patient (1.9%).

The digestive tract was involved in 82.7% of overall cases and the urinary tract in 46.2%. Rectovaginal fistula occurred in 13.5% of cases.

Self-catheterization was required in 27% of cases at 3 weeks after surgery and in 5.8% of cases at 1 year.

One-year follow up also showed significant improvement in quality of life using the 36-Item Short Form Survey (SF-36) and standardized gastrointestinal scores.

De novo hypoesthesia, hyperaesthesia or allodynia were recorded in 17.2% of cases.

After a mean follow up of 2 years, the cumulative pregnancy rate was 77.2%, with natural conception in 47% of these cases.

We were satisfied to observe a major improvement of patients’ overall quality of life and pain, as well as favorable fertility outcomes,” Dr. Roman told Contemporary OB/GYN. “However, we were surprised to discover that the impact of these large lesions was not confined to the sacral plexus, but also affected the low rectum, the vagina, the bladder and ureters in a majority of cases.”

These findings resulted in a complex surgical procedure, “where the dissection of pelvic nerves represented only one step of the surgery, and sometimes not the most challenging step,” Dr. Roman said. In addition, major unfavorable postoperative outcomes were related to both nerve dysfunction and complications related to other pelvic organs, particularly to low rectal fistulae.

Our study provides a good oversight on preoperative baseline complaints in patients with deep endometriosis involving the sacral plexus, as well as on standardized surgical procedures performed in these patients,” Dr. Roman said. “The study also estimated the probability of postoperative clinical improvement, plus the risk of major complications following this particular type of complex surgery.”

The data should be part of the information that patients receive preoperatively and will help with informed choice, according to Dr. Roman.

Furthermore, the study provides the basis to create a standardized step-by-step approach to deep endometriosis involving the sacral plexus, “which are reproducible and feasible in experienced hands, and prevents intraoperative complications,” Dr. Roman said.

Dr. Roman hopes the study will be followed by larger multicenter trials of experienced surgical teams from various countries to provide more detailed data on the reproducibility of complex surgeries worldwide and the risk of rare intraoperative or postoperative complications and their successful management.

Read more: https://www.jmig.org/article/S1553-4650(20)31107-9/abstract

Source: https://www.contemporaryobgyn.net/view/postoperative-outcomes-after-surgery-for-deep-endometriosis-of-sacral-plexus?utm_source=sfmc&utm_medium=email&utm_campaign=11_18_20_COG_SYN-19-COD0196_%20HOL-20-COP0108_COG_eNL_INTL_Only&eKey=anNvdXNzaXNAZ21haWwuY29t

Τα αποτελέσματα της χειρουργικής αντιμετώπισης της βαθιάς ενδομητρίωσης που επηρεάζει τα νεύρα

Τα αποτελέσματα της χειρουργικής αντιμετώπισης της βαθιάς ενδομητρίωσης που επηρεάζει τα νεύρα

Η λαπαροσκοπική αντιμετώπιση της βαθιάς (εν τω βάθει) ενδομητρίωσης που επηρεάζει τις ρίζες του ιερού πλέγματος και το ισχιακό νεύρο βελτιώνει τα συμπτώματα της ασθενούς, την ποιότητα ζωής και αυξάνει τις πιθανότητες εγκυμοσύνης, σύμφωνα με νέα αναδρομική μελέτη.

Η γαλλική μελέτη, που δημοσιεύθηκε στην επιστημονική επιθεώρηση Minimally Invasive Gynecology (Ελάχιστα Επεμβατικής Γυναικολογίας), έδειξε επίσης ότι ο πόνος μειώνεται αμέσως μετά την επέμβαση, αλλά ορισμένα αισθητήρια ή κινητικά προβλήματα είναι πιθανό να εξακολουθήσουν να υφίστανται για μήνες ή χρόνια.

H μελέτη αξιολόγησε τα μετεγχειρητικά αποτελέσματα για ένα έτος, σε ασθενείς που είχαν μεγάλες εστίες ενδομητρίωσης, οι οποίες επηρέαζαν το ιερό πλέγμα, το οποίο ελέγχει τη λειτουργία του εντέρου και της ουροδόχου κύστης, την κινητικότητα και την ευαισθησία του περινέου, των γλουτών και του ποδιούδήλωσε ο επικεφαλής της έρευνας Οράς Ρομάν.

Στην μελέτη έλαβαν μέρος 52 γυναίκες με βαθιά ενδομητρίωση, η οποία επηρέαζε τις ρίζες του ιερού πλέγματος και το ισχιακό νεύρο. Το 92% των γυναικών είχε εστίες στο ιερό πλέγμα και το 5,8% στο ισχιακό νεύρο. Το 82,7% των ασθενών είχε πόνο στους γλουτούς ή το πόδι, το 21,2% είχε νευραλγία των ποδιών και το 27% των ασθενών παρουσίαζε αδυναμία στην κίνηση των ποδιών.

Στις χειρουργικές επεμβάσεις των νεύρων της λεκάνης, πραγματοποιήθηκε πλήρης απελευθέρωση και αποσυμπίεση σε 48 ασθενείς (92,3%), εκτομή του επινεύριου σε τρεις ασθενείς (5,8%) και ενδο-νευρική εκτομή σε μία ασθενή (1,9%).

Το πεπτικό σύστημα είχε επηρεαστεί στο 82,7% των περιπτώσεων και το ουροποιητικό στο 46,2%. Ορθοκολπικό συρίγγιο εμφανίστηκε στο 13,5% των περιπτώσεων.

Αυτοκαθετηριασμός της ουροδόχου κύστης χρειάστηκε να γίνει στο 27% των περιπτώσεων στις 3 εβδομάδες μετά τη χειρουργική επέμβαση και στο 5,8% των περιπτώσεων μέσα στο πρώτο έτος.

Τον πρώτο χρόνο μετά το χειρουργείο, υπήρξε σημαντική βελτίωση της ποιότητας της ζωής των ασθενών που είχαν εστίες βαθιάς ενδομητρίωσης στο ιερό πλέγμα και το ισχιακό νεύρο.

Δύο χρόνια μετά το χειρουργείο, το συνολικό ποσοστό εγκυμοσύνης έφθασε το 77,2%, με φυσική σύλληψη στο 47% αυτών των περιπτώσεων.

Είμαστε ικανοποιημένοι που υπήρξε σημαντική βελτίωση στην ποιότητα της ζωής των ασθενών καθώς και μείωση του πόνου και πολύ καλά αποτελέσματα στο θέμα της γονιμότητας”, είπε ο επικεφαλής της έρευνας και συμπλήρωσε “Μας προκάλεσε έκπληξη το γεγονός ότι αυτές οι μεγάλες εστίες δεν περιορίζονταν μόνο στο ιερό πλέγμα, αλλά επηρέαζαν και το ορθό, τον κόλπο, την ουροδόχο κύστη και τους ουρητήρες στις περισσότερες περιπτώσεις”.

Τα ευρήματα αυτά μας οδήγησαν σε μία πολύπλοκη χειρουργική διαδικασία, κατά την οποία η ανατομή των πυελικών νεύρων αποτελούσε ένα μόνο σκέλος της επέμβασης και κάποιες φορές, όχι το πιο δύσκολο. Τα δυσμενή

μετεγχειρητικά αποτελέσματα σχετίζονται τόσο με τη δυσλειτουργία των νεύρων όσο και με επιπλοκές σε άλλα όργανα της πυέλου και ιδιαίτερα

στα χαμηλότερα ορθοκολπικά συρίγγια.

Επιπλέον, η μελέτη παρέχει τη βάση για τη δημιουργία μιας βήμα προς βήμα προσέγγισης στη βαθιά ενδομητρίωση που περιλαμβάνει το ιερό πλέγμα, η οποία θα μπορούσε να ακολουθείται ώστε να αποτρέπονται οι επιπλοκές.

Διαβάστε περισσότερα: https://www.jmig.org/article/S1553-4650(20)31107-9/abstrak

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