Agenesis of Corpus Callosum

Researchers present abstracts and poster sessions showcasing research and clinical solutions Joint session planned with Illumina HOUSTON, March 04, 2024 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing, will showcase its latest advancements and research discoveries at the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting on March 12-16 in Toronto, Canada. The presentations shed light on cutting-edge developments in genetic analysis, diagnostic interpretation, and clinical results, underscoring Baylor Genetics’ mission to translate scientific innovation into accessible clinical solutions that improve patient outcomes and advance precision diagnostics. Exhibit Theater Presentation In a joint Exhibit Theatre Session, Christine Eng, M.D., Chief Medical Officer and Chief Quality Officer at Baylor Genetics, will speak about “Preparing for a Genome World | AI and Informatics Automation at the Core.” The session will take place in Exhibit Theater 2, presented by Illumina, Inc., on Thursday, March 14, from 11:55 a.m. to 12:25 p.m. (EST). Panel Presentation In a panel presentation titled, “Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing,” Pengfei Liu, Ph.D., associate clinical director of research at Baylor Genetics, will participate on March 13 from 4:00 – 5:30 p.m. (EST) in Meeting Room 701. He will present on, “The Utility of Transcriptome RNA-Seq Analysis in Disease Diagnostics and Variant Interpretation,” from 4:30 – 4:45 p.m. (EST) and participate in the panel discussion to follow at 5:15 p.m. (EST). Poster Presentations March 14, 10:30 a.m. – 12:00 p.m. (EST) Detection of Single-Gene Copy Number Variations Through High-Resolution Exon-Targeted Chromosomal Microarray Analysis Primary Author: Dr. Matthew Hoi Kin Chau Novel Presentation of Dextrocardia in TGIF1 Holoprosencephaly Primary Author: Dr. Casey Thornton Pathogenic ZIC2 Polyalanine Expansion Detected by Exome Sequencing in a Family with Multi-Generation Holoprosencephaly Primary Author: Dr. Nichole Owen More Than an Extra Chromosome: Unexpected Multiple Diagnoses in Individuals with Down Syndrome Primary Author: Dr. Liesbeth Vossaert March 15, 10:30 a.m. - 12:00 p.m. (EST) Development of a Comprehensive Gene-/Disease-Specific Analysis and Knowledge Base to Enhance the Efficiency and Accuracy of Sequence Variant Interpretation and Clinical Reporting Primary Author: Dr. Xi Luo Phenotype Expansion or Multiple Diagnosis: Experience from Additional Findings in Patients with Common Aneuploidies Primary Author: Dr. Xiaonan Zhao Heterozygous Deletion of Valine at Position 2321 of RYR2 in Two Siblings with Sudden Cardiac Death Primary Author: Dr. Eric Kao Positive Findings in Clinical Mitochondrial Genome Testing by NGS Primary Author: Dr. Yue Wang PMP22 Single Exon Deletion in a Proband with Hematologic Malignancy and Family History of Charcot-Marie-Tooth Disease Primary Author: Dr. Katharina Schulze "The insights and research findings we share at ACMG 2024 spotlight the power of ongoing collaboration with leading industry partners, children’s hospitals, healthcare providers, academic and research organizations," said Kengo Takishima, President and Chief Executive Officer of Baylor Genetics. "These presentations reflect our ongoing commitment to advancing the field of genetics and empowering patients, providers, and partners with insights and innovations to transform healthcare and improve lives." Baylor Genetics invites attendees to visit its exhibit at Booth #1200, as well as attend presentations and poster session to learn more about research, offerings and advancements in whole genome and exome sequencing, reproductive health, critical care, oncology, disease-specific panels and complementary solutions. The company will host a networking breakfast on Thursday, March 14. Customers and partners interested in attending the breakfast can request an invitation and register here or inquire onsite at the Baylor Genetics booth. Learn more about ACMG’s Annual Clinical Genetics Meeting through the conference website and visit the Baylor Genetics’ website to explore the company’s genetic testing capabilities. About Baylor Genetics A pioneer of precision diagnostics for over 45 years, Baylor Genetics is a leading diagnostic genomics partner offering a full spectrum of clinically relevant genetic testing, including Whole Genome Sequencing, Whole Exome Sequencing, and focused panels. A joint venture of H.U. Group Holdings, Inc. and Baylor College of Medicine, which has the #1 NIH-funded Department of Molecular and Human Genetics, Baylor Genetics couples the fastest and most comprehensive precision diagnostics options with the support of genetic counselors to help clinicians and their patients avoid a lengthy diagnostic odyssey, guide medical management, and make sure no patient with a genetic disorder gets left behind. Its test menu spans from family planning, pregnancy, neonatal and pediatric testing, oncology, and specialized test options. Baylor Genetics is located in Houston’s Texas Medical Center and serves clients in 50 states and 16 countries.

Injuries of the anterior cruciate ligament (ACL), located in the knee, are typically thought to be caused by acute traumatic events, such as sudden twists. New work analyzing an animal model of ACLs suggests that such injuries can also occur as a result of chronic overuse, specifically due to a reduced ability to repair microtraumas associated with overuse. Importantly, the team said, females also are less able to heal from these microtraumas than males, which may explain why females are two to eight times more likely to tear their ACL ligaments than males. Injuries of the anterior cruciate ligament (ACL), located in the knee, are typically thought to be caused by acute traumatic events, such as sudden twists. Led by Penn State researchers, new work analyzing an animal model of ACLs suggests that such injuries can also occur as a result of chronic overuse, specifically due to a reduced ability to repair microtraumas associated with overuse. Importantly, the team said, females also are less able to heal from these microtraumas than males, which may explain why females are two to eight times more likely to tear their ACL ligaments than males. "ACL tears are one of the most common injuries, affecting more than 200,000 people in the U.S. each year, and women are known to be particularly susceptible," said principal investigator Spencer Szczesny, associate professor of biomedical engineering and of orthopaedics and rehabilitation at Penn State. "While recent research suggests that chronic overuse can lead to ACL injuries, until now, no one had investigated the differential biological response of female and male ACLs to applied force." In the study, which was published in the Journal of Orthopaedic Research, researchers placed ACLs from deceased male and female rabbits in a custom-made bioreactor that simulated the conditions of a living animal but allowed direct observation and measurement of the tissue. Next, they applied repetitive forces to the ACLs that mimicked those that would naturally occur during activities such as standing, walking and trotting and measured the expression of genes related to healing. In male samples, the team found that low and moderate applied forces, such as those that would occur during standing or walking, resulted in increased expression of anabolic genes, which are related to building molecules needed for healing. By contrast, larger applied forces, such as those that would occur with repetitive trotting, decreased expression of these anabolic genes. For female samples, however, the amount of force applied did not influence the level of anabolic gene expression. "It didn't matter whether there was low, medium or high activity for females," said Lauren Paschall, graduate student in biomedical engineering at Penn State and first author on the paper. "Female ACLs exposed to chronic use just didn't heal as well as male ACLs, which may explain why women are predisposed to injuries. This supports the hypothesis that noncontact ACL injuries are attributed to microtraumas associated with chronic overuse that predispose the ACL to injury." According to the researchers, one explanation for the sex differences the team observed could be due to the higher amounts of estrogen in females. "Some studies have found that the overall effect of estrogen on ACL injury is negative," Paschall said. "Specifically, studies have shown that human women are more likely to tear their ACLs during the preovulatory phase, when estrogen levels are high, than during the postovulatory phase, when estrogen levels are low." She said the team plans to further investigate the role of estrogen on ACL injury. Szczesny noted that although the team's study was not in humans, the findings may suggest that providing additional recovery time for women following injuries could be advantageous. "Ultimately, this work could also help to identify targets for therapeutics to prevent ACL injuries in women," he said. Other Penn State authors on the paper include Sabrina Carrozzi, graduate student; Erdem Tabdanov, assistant professor of pharmacology; and Aman Dhawan, professor of orthopaedics and rehabilitation. The Orthopaedic Research and Education Foundation and the Congressionally Directed Medical Research Program supported this research.

JACKSONVILLE, Fla., Aug. 2, 2023 /PRNewswire/ -- In the face of the ongoing supply issues affecting Intra-Abdominal Pressure (IAP) transducer kits, Sentinel Medical Technologies is stepping up to ensure that patient care remains uncompromised. The company's FDA-cleared product, TraumaGuard, is now readily available to fill the gap left by the shortage of CR BARD or Centurion IAP kits. Continue Reading TraumaGuard Continuous Intra-Abdominal Pressure Monitoring System IAP monitoring is a critical component of patient care in OR and ICU settings. It serves as a crucial guide for medical teams in assessing the risk of developing Intra-Abdominal Hypertension (IAH) and Abdominal Compartment Syndrome (ACS), conditions that can have severe consequences if not addressed promptly. Given the critical importance of IAP measurements, the ongoing shortage of transducer kits has created obstacles for healthcare providers, increasing the barriers in delivering essential, life-saving care. TraumaGuard offers a solution to this pressing issue. More than a product, TraumaGuard is a commitment to patient care. It provides continuous, hands-free monitoring of IAP, Core Body Temperature, and bladder drainage in critical care patients of all departments. Once administered, TraumaGuard can be left in place for 30 days, eliminating clinical staff burden and improving workflow. Moreover, TraumaGuard's unique technology is designed with patient safety in mind. It actively detects advancement toward Abdominal Compartment Syndrome (ACS), sending proactive alerts to both bedside and nurses' stations while automatically recording and storing measurements in the existing EMR database. This allows for timely interventions that can prevent the escalation of negative patient conditions. In addition to its clinical benefits, TraumaGuard also offers significant cost savings. When actively deployed, it reduces the overall cost of patient care while requiring no capital equipment and can be connected to existing bedside monitors. This makes TraumaGuard a cost-competitive and equivalent replacement to existing IAP devices. Patrick Beer, DO, Critical Care Surgery Specialist, Hurley Medical Center, commented on the situation: "The availability of TraumaGuard comes at a time when IAP transducer kits are currently unavailable or discontinued. This shortage has been a major challenge for OR and ICU teams, who rely on IAP monitoring to assess the risk of Intra-Abdominal Hypertension (IAH) and Abdominal Compartment Syndrome (ACS)." Sentinel Medical Technologies is committed to ensuring the availability of TraumaGuard now and in the future. The company understands the critical role that IAP monitoring plays in patient care and is dedicated to ensuring that healthcare providers have the tools they need to deliver the best possible outcomes. For more information about TraumaGuard, please visit About Sentinel Medical Technologies: Sentinel Medical Technologies is a focused-leader in health technology, committed to saving lives with pressure monitoring. Founded with the mission to advance the standard of care, Sentinel offers a growing suite of innovative pressure-based monitoring devices that cater to a variety of disease states. By unlocking the power of data at the point of care, Sentinel delivers value-based healthcare solutions that are simple, efficient, and cost-effective. Our cutting-edge technologies are designed to solve unmet clinical needs, instill technological confidence in the workflow, and improve patient outcomes. SOURCE Sentinel Medical Technologies