Meningomyelocele

Spina bifida is the most common structural disorder of the human nervous system. The causes are largely unknown, but a new study points to a link involving a chromosomal microdeletion -- and also underscores the value of folic acid as a preventive measure. A group of researchers at the University of California San Diego School of Medicine led an investigation that offers new insight into the causes of spina bifida, the most common structural disorder of the human nervous system. Work of the group, led by Keng Ioi Vong, Ph.D., and Sangmoon Lee, M.D. Ph.D., both from the laboratory of Joseph G. Gleeson, M.D., at the UC San Diego School of Medicine Department of Neurosciences and the Rady Children's Institute for Genomic Medicine, reveals the first link between spina bifida and a common chromosomal microdeletion in humans. The study demonstrates that individuals carrying this chromosomal deletion -- present in one of 2,500 live births -- demonstrate a risk of spina bifida more than 10 times greater than the general public. The study also underscores the potential role of a common food supplement in reducing the risk of spina bifida. The findings were recently published in the journal Science. Gleeson, Rady Professor in the Department of Neuroscience and director of neuroscience at Rady Children's Institute for Genomic Medicine, is the senior author of the study. He explained that spina bifida, also known as meningomyelocele, affects one in every 3,000 newborns. Unfortunately, the causes are mostly unknown. A few mutations were reported but could only explain a tiny fraction of risk, Gleeson added. To uncover the genetic causes of the disease, Gleeson's UC San Diego lab joined with colleagues from across the globe to establish the Spina Bifida Sequencing Consortium in 2015. The consortium began focusing on a tiny deletion in chromosome 22. Chromosome microdeletions refer to a condition in which several genes in a chromosome are missing. The group's target condition, known as 22q11.2del, has been implicated in a number of other disorders. They began looking for 22q11.2del in spinal bifida patients. "All patients we recruited have the most severe form of spina bifida, and all underwent best-practice comprehensive genomic sequencing," Gleeson said. "We identified 22q11.2del in 6 out of 715 patients. This may not seem a high percentage, but this is by far the most common single genetic variation that could contribute to spina bifida." He went on to say the group identified eight additional spina bifida patients who carried the deletion from a cohort of approximately 1,500 individuals recruited because of the presence of the common 22q11.2 deletion, Gleeson said. The researchers then narrowed the cause among the many genes in the 22q11.2 deletion to a single gene known as CRKL. Gleeson explained that there are nine other genes in this chromosomal region that could have been the cause. He said the team began a process of elimination, "knocking out" each of the mouse genes one-by-one, when they received a fortuitous email from Dolores Lamb from Weil Cornell College of Medicine. Lamb had noted some of the mice in their vivarium that were missing Crkl and showed spina bifida. (Vong explained that researchers use all capital letters to describe the gene in humans, and lower-case for mice. )Lamb's group heard about the Gleeson lab project throughs the Spina Bifida Association. "This finding really got us excited because it meant that CRKL disruption might be sufficient for spina bifida," said Vong, co-first author of the study. "We removed the mouse Crkl gene ourselves and confirmed that some of the mice developed neural tube defects, including spina bifida." Most of the other genes in 22q11.2 deletion were subsequently excluded, he added. They next turned their attention to how folic acid may modulate CRKL-mediated spina bifida. Vong noted that prior studies in humans demonstrated that folic acid (also known as vitamin B-9) supplementation prior to conception reduces the incidence of spina bifida and other neural tube defects by up to 30-50 percent, but the mechanisms are still a mystery. "When we deprived the Crkl mutant female mice of folic acid in their chow, many more of their offspring had neural tube defects, and the severity increased dramatically," Vong explained. "This suggests that folic acid taken by pregnant women may not only reduce the risk, but also the severity of neural tube defects in their offspring." "We hope our findings can help the research community to better understand causes of neural tube defects, especially the causes attributable to common genetic findings like 22q11.2 deletion," Gleeson said. "We also hope our findings can contribute to healthy pregnancies, improved women's health, and improved outcomes for children." Co-authors associated with the University of San Diego School of Medicine Department of Neurosciences, as well as with Rady Children's Institute for Genomic Medicine, (in addition to Joseph G. Gleeson Sangmoon Lee and Keng Ioi Vong) are: Renee George, Bryn Gerding, Kiely N. James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha and Robyn Howarth. Other co-authors include Hal S. Meltzer, of the University of California San Diego Rady Children's Hospital Department of Neurosurgery; Anna S. Nidhiry, of Rady Children's Institute for Genomic Medicine; and the Spina Bifida Sequencing Consortium. This work was supported by the Center for Inherited Disease Research grant HHSN268201700006I, the Yale Center for Genomic Analysis, the Broad Institute, the UC Irvine Genomics Core, the UCSD Institute for Genomic Medicine, the UCSD Transgenic Core, UCSD Microscopy Core grant P30 NS047101, and Columbia Microscopy Core grant S10 OD032447- 01. Other support came from the National Institutes of Health, including National Institute of Diabetes and Digestive and Kidney Diseases, and by support from the Howard Hughes Medical Institute and Rady's Children Institute for Genomic Medicine to Joseph G. Gleeson.

Three babies have been born after receiving the world's first spina bifida treatment combining surgery with stem cells. Three babies have been born after receiving the world's first spina bifida treatment combining surgery with stem cells. This was made possible by a landmark clinical trial at UC Davis Health. The one-of-a-kind treatment, delivered while a fetus is still developing in the mother's womb, could improve outcomes for children with this birth defect. Launched in the spring of 2021, the clinical trial is known formally as the "CuRe Trial: Cellular Therapy for In Utero Repair of Myelomeningocele." Thirty-five patients will be treated in total. The three babies from the trial that have been born so far will be monitored by the research team until 30 months of age to fully assess the procedure's safety and effectiveness. The first phase of the trial is funded by a $9 million state grant from the state's stem cell agency, the California Institute for Regenerative Medicine (CIRM). "This clinical trial could enhance the quality of life for so many patients to come," said Emily, the first clinical trial participant who traveled from Austin, Tex. to participate. Her daughter Robbie was born last October. "We didn't know about spina bifida until the diagnosis. We are so thankful that we got to be a part of this. We are giving our daughter the very best chance at a bright future." Spina bifida, also known as myelomeningocele, occurs when spinal tissue fails to fuse properly during the early stages of pregnancy. The birth defect can lead to a range of lifelong cognitive, mobility, urinary and bowel disabilities. It affects 1,500 to 2,000 children in the U.S. every year. It is often diagnosed through ultrasound. While surgery performed after birth can help reduce some of the effects, surgery before birth can prevent or lessen the severity of the fetus's spinal damage, which worsens over the course of pregnancy. "I've been working toward this day for almost 25 years now," said Diana Farmer, the world's first woman fetal surgeon, professor and chair of surgery at UC Davis Health and principal investigator on the study. The path to a future cure As a leader of the Management of Myelomeningocele Study (MOMS) clinical trial in the early 2000s, Farmer had previously helped to prove that fetal surgery reduced neurological deficits from spina bifida. Many children in that study showed improvement but still required wheelchairs or leg braces. Farmer recruited bioengineer Aijun Wang specifically to help take that work to the next level. Together, they launched the UC Davis Health Surgical Bioengineering Laboratory to find ways to use stem cells and bioengineering to advance surgical effectiveness and improve outcomes. Farmer also launched the UC Davis Fetal Care and Treatment Center with fetal surgeon Shinjiro Hirose and the UC Davis Children's Surgery Center several years ago. Farmer, Wang and their research team have been working on their novel approach using stem cells in fetal surgery for more than 10 years. Over that time, animal modeling has shown it is capable of preventing the paralysis associated with spina bifida. It's believed that the stem cells work to repair and restore damaged spinal tissue, beyond what surgery can accomplish alone. Preliminary work by Farmer and Wang proved that prenatal surgery combined with human placenta-derived mesenchymal stromal cells, held in place with a biomaterial scaffold to form a "patch," helped lambs with spina bifida walk without noticeable disability. "When the baby sheep who received stem cells were born, they were able to stand at birth and they were able to run around almost normally. It was amazing," Wang said. When the team refined their surgery and stem cells technique for canines, the treatment also improved the mobility of dogs with naturally occurring spina bifida. A pair of English bulldogs named Darla and Spanky were the world's first dogs to be successfully treated with surgery and stem cells. Spina bifida, a common birth defect in this breed, frequently leaves them with little function in their hindquarters. By their post-surgery re-check at 4 months old, Darla and Spanky were able to walk, run and play. The world's first human trial When Emily and her husband Harry learned that they would be first-time parents, they never expected any pregnancy complications. But the day that Emily learned that her developing child had spina bifida was also the day she first heard about the CuRe trial. For Emily, it was a lifeline that they couldn't refuse. Participating in the trial would mean that she would need to temporarily move to Sacramento for the fetal surgery and then for weekly follow-up visits during her pregnancy. After screenings, MRI scans and interviews, Emily received the life-changing news that she was accepted into the trial. Her fetal surgery was scheduled for July 12, 2021, at 25 weeks and five days gestation. Farmer and Wang's team manufactures clinical grade stem cells -- mesenchymal stem cells -- from placental tissue in the UC Davis Health's CIRM-funded Institute for Regenerative Cures. The cells are known to be among the most promising type of cells in regenerative medicine. The lab is a Good Manufacturing Practice (GMP) Laboratory for safe use in humans. It is here that they made the stem cell patch for Emily's fetal surgery. "It's a four-day process to make the stem cell patch," said Priya Kumar, the scientist at the Center for Surgical Bioengineering in the Department of Surgery, who leads the team that creates the stem cell patches and delivers them to the operating room. "The time we pull out the cells, the time we seed on the scaffold, and the time we deliver, is all critical." A first in medical history During Emily's historic procedure, a 40-person operating and cell preparation team did the careful dance that they had been long preparing for. After Emily was placed under general anesthetic, a small opening was made in her uterus and they floated the fetus up to that incision point so they could expose its spine and the spina bifida defect. The surgeons used a microscope to carefully begin the repair. Then the moment of truth: The stem cell patch was placed directly over the exposed spinal cord of the fetus. The fetal surgeons then closed the incision to allow the tissue to regenerate. "The placement of the stem cell patch went off without a hitch. Mother and fetus did great!" Farmer said. The team declared the first-of-its-kind surgery a success. Delivery day On Sept. 20, 2021, at 35 weeks and five days gestation, Robbie was born at 5 pounds, 10 ounces, 19 inches long via C-section. "One of my first fears was that I wouldn't be able to see her, but they brought her over to me. I got to see her toes wiggle for the first time. It was so reassuring and a little bit out of this world," Emily said. For Farmer, this day is what she had long hoped for, and it came with surprises. If Robbie had remained untreated, she was expected to be born with leg paralysis. "It was very clear the minute she was born that she was kicking her legs and I remember very clearly saying, 'Oh my God, I think she's wiggling her toes!'" said Farmer, who noted that the observation was not an official confirmation, but it was promising. "It was amazing. We kept saying, 'Am I seeing that? Is that real?'" Both mom and baby are at home and in good health. Robbie just celebrated her first birthday. The CuRe team is cautious about drawing conclusions and says a lot is still to be learned during this safety phase of the trial. The team will continue to monitor Robbie and the other babies in the trial until they are 6 years old, with a key checkup happening at 30 months to see if they are walking and potty training. "This experience has been larger than life and has exceeded every expectation. I hope this trial will enhance the quality of life for so many patients to come," Emily said. "We are honored to be part of history in the making." Video:

High prevalence of incidences of congenital facial deformities, increasing awareness about minimally invasive techniques, escalation in the number of injuries due to road accidents and other traumas, various technological advancements in the field of Craniomaxillofacial Implants are key factors contributing to high CAGR in the forecast period. According to the current analysis of Reports and Data, the global Craniomaxillofacial Implants market was valued at USD 1.93 billion in 2018 and is expected to reach USD 3.29 billion by the year 2026, at a CAGR of 6.8 %. Craniomaxillofacial Implants are the medical accessories that are embedded for the injuries, diseases, congenital facial disorders in the head, neck, jaw, and face, hence treating the deformed site. According to the Association for Safe International Road Travel, about 20-30 million get injured or disabled in road accidents, which is amongst the key driving factors for the Craniomaxillofacial Implants. The material of manufacturing the Implants has now been improved, such that they can be contoured easily. For instance, biomaterials and other polymers. The rise in the road accidents and traumas, hike in the sports injuries, increasing prevalence of congenital facial disorders (for instance, Cleft lip or palate) are the factors that are expected to be responsible for fueling the growth of the market. According to the World Health Organization, an oral cleft is observed in approximately 1 in every 700 live births in the United States of America. Access Free sample PDF Copy of the Report (To Understand the Complete Structure of this Report [Summary + TOC]) @ Furthermore, the increasing need to experience better aesthetics, growing demand for minimally invasive procedures across the globe is the primary factor that fosters the growth of the Craniomaxillofacial Implants market. There are various technological advancements in the field of medical devices such as autoclavable cleft, which is expected to boost the market. Moreover, in June 2019, Stryker announced that it is to invest over €200 million in Research, Development, and Innovation (RD&I) projects to deliver next-generation products and services across its medical, surgical, and orthopedic. However, the major challenge faced includes, high cost of the Craniomaxillofacial surgeries, expensive implants, when embedded for long term use, make it unaffordable for the low-income population. The rising incidences of product recall, increase in the infections caused due to implants due to hygiene conditions, stringent regulations of the government, and implications associated with the surgical procedure are expected to hamper the market growth for Craniomaxillofacial Implants. Further key findings from the report suggest According to the Centers for Disease Control and Prevention (CDC), it is estimated that each year in the United States, about 2,650 babies are born with a cleft palate, and 4,440 babies are born with a cleft lip with or without a cleft palate. Furthermore, the growth in the demand for better aesthetics would drive the market of Craniomaxillofacial Implants. Titanium has been the most used product after conventional inserts, but the stress shielding effect on bone, possible interference with the growth of the affected region is an important factor resulting to the removal of these inserts. The recent innovation was Resorbable type of embeds, which degrades slowly into the body and hence stays for a time period such that the bone unites as earlier. About 20-50 million injuries take place in road accidents globally, according to the Association for Safe International Road Travel. The injuries and the deformities caused need inserts for the head, face, neck, jaw region. This growth in demand for such inserts is expected to help the market gain traction in the coming years. The recent advancement, especially in the material type, has been made. For instance, Craniomaxillofacial Implants made up of biomaterials and polymers, can be easily contoured and showed lesser side effects post-surgery. It is expected to gain attention amongst the healthcare providers, plastic surgeons, and provide lucrative growth to the market during the forecast period. The key players in this sector are focusing more on the technological advancements. For instance, Aesculap, has brought up the first double-sided cranial fixation system, CranioFix2, which allows cranial flap fixation in less than two minutes, because of the ease in the application and use of the product. Furthermore, this product is expected to allow higher stability post-surgery and hence would help the market to grow due to such innovations. The ongoing pandemic is significantly changing the dynamics of the pharma and healthcare sector. Various countries are facing challenges such as shortage of medicines, vaccines, healthcare devices in hospitals. This is expected to open lucrative growth opportunities for market players in the coming years. For Inquiry Before Buying @ Competitive Landscape: The global market comprises various market players operating at regional and global levels. These key players are adopting various strategies such as R&D investments, license agreements, partnerships, merger and acquisitions, collaborations, and joint ventures to gain robust footing in the market. Top Companies Profiled in the Report: Medtronic, Stryker, Depuy Synthes, KLS Martin, Zimmer Biomet, Integra Lifesciences, OsteoMed, Medartis, Matrix Surgical USA, and Calavera. Browse Full Report Description with Research Methodology, Table of Content and Infographics @ Craniomaxillofacial Implants Market Segmentation: Type Outlook (Revenue in Million USD; 2016–2026) Cranial or Neuron Implants Mid Face Implants Mandibular Orthognathic Implants Cranial Flap fixation Bone Grafting Substitutes Distraction Systems Thoracic Repair System Dural Repair Products Total TMJ Replacement System Application Outlook (Revenue in Million USD; 2016–2026) Orthognathic Surgeries Dental Surgeries Neurosurgeries ENT Surgeries Plastic Surgery End-Use Outlook (Revenue in Million USD; 2016–2026) Hospitals & Clinics Ambulatory Surgical Centers Others Regional Outlook: North America (U.S., Canada, Mexico) Europe (Germany, U.K., Italy, France, BENELUX, Rest of Europe) Asia Pacific (China, India, Japan, South Korea, Rest of Asia Pacific) Latin America (Brazil, Rest of LATAM) Middle East & Africa (Saudi Arabia, U.A.E., South Africa, Rest of Middle East & Africa) Ask for Customize Research Report @ This study aims to define market sizes and forecast the values for different segments and countries in the coming eight years. The study aims to include qualitative and quantitative perspectives about the industry within the regions and countries covered in the report. The report also outlines the significant factors, such as driving factors and challenges, that will determine the market’s future growth. 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