更新于：2024-11-01

Spinal Dysraphism

脊柱裂

更新于：2024-11-01

基本信息

别名

Bifida, Spina、Cleft Spine、Cleft Spines

+ [51]

简介

Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)

关联

项与脊柱裂相关的药物

Oxybutynin Chloride

盐酸奥昔布宁

靶点

mAChRs

作用机制

mAChRs拮抗剂

在研机构

Hisamitsu Pharmaceutical Co., Inc. [+7]

原研机构

Johnson & Johnson

在研适应症

掌跖多汗症 [+6]

非在研适应症

下尿路症状 [+1]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期1975-07-16

Nic-10SR

靶点-

作用机制-

在研机构-

原研机构

APeT Holding B.V.

在研适应症-

非在研适应症

行为障碍 [+1]

最高研发阶段无进展

首次获批国家/地区-

首次获批日期1800-01-20

145

项与脊柱裂相关的临床试验

NCT05253196 / Not yet recruitingN/AIIT

Enema Device for Children With Spina Bifida

The International Center for Colorectal and Urogenital Care at Children's Hospital Colorado treats patients who suffer from many different colorectal issues such as anorectal malformation, Hirschsprung disease, and severe constipation. Many of these patients suffer from fecal incontinence. The investigators have developed a week long bowel management program (BMP) that is offered every month to help these kids stay clean of stool in the underwear, by finding the perfect enema recipe to clean the colon for 24 hours. This allows one to perform an enema once every day, clean their colon, and remain free of 'accidents'. Many spina bifida patients also suffer from fecal incontinence and are referred to this BMP. The overall success rate for all patients who suffer from fecal incontinence is 95%, however the success rate for spina bifida patients is only 77%. The reason for this decrease in success is due to the lack of anal sphincter tone in spina bifida patients, which leads to inadvertent leakage and spillage of enema fluid and bowel content during enema administration. The purpose of this study is to create and test an enema administration device that improves upon current methods.

开始日期2025-06-01

申办/合作机构

University of Colorado Denver

NCT06618378 / Not yet recruitingN/AIIT

Effectiveness of Biofeedback Training in Children with Neurogenic Bladder and Bowel Disorder with Spina Bifida

The aim of this study is to examine and compare the bladder and bowel functions, activation of pelvic floor and abdominal muscle groups and quality of life of children diagnosed with spina bifida who did not receive any treatment due to bladder-intestinal dysfunction, received only urotherapy training and received biofeedback training combined with breathing.
The type of study is clinical trial. Question 1: Does biofeedback training combined with breathing have an effect on bladder and bowel functions, activation of pelvic floor and abdominal muscle groups and quality of life in spina bifida patients with neurogenic bladder and bowel disorders? Question 2: Does urotherapy training have an effect on bladder and bowel functions, activation of pelvic floor and abdominal muscle groups and quality of life in spina bifida patients with neurogenic bladder and bowel disorders? Group 1: control group Group 2: urotherapy training group Group 3: Biofeedback exercise training group combined with breathing There will be no extra treatment to group 1. Urotherapy Training: Standard urotherapy is a combined method that includes clinical assessment (recording voiding frequencies, voiding volumes and incontinence episodes in a bladder diary), voiding habit training, behavior modification instructions, lifestyle recommendations regarding fluid intake and supporting children and their parents through the process.
Exercise Training: Urotherapy training will be given at the beginning of the treatment process. Contraction and relaxation will be applied around the external sphincter in combination with diaphragmatic breathing by visual imagery with EMG biofeedback application.
Group 1, group 2 and group 3 will be compared.

开始日期2024-10-21

申办/合作机构-

NCT06025734 / Not yet recruitingN/AIIT

Effectiveness of Transcutaneous Tibial Nerve Stimulation in Pediatric Patients With Neurogenic Bladder Secondary to Spina Bifida

The purpose of this research study is to determine the effectiveness of a treatment called "transcutaneous tibial nerve stimulation" or "TTNS" in the treatment of urinary leakage for patients with spina bifida. This treatment involves electrical stimulation of a nerve by the ankle. Participants will complete urodynamic testing and questionnaires prior to the treatments. Participants will then complete 6 weekly treatments of TTNS. Participants will learn how to do the treatment in the clinic, and then can complete the treatments at home. For patients with a good response, the treatments may be continued for another 6 weeks, for a total of 6 weeks.

开始日期2024-10-01

申办/合作机构

The University of Texas Southwestern Medical Center

100 项与脊柱裂相关的临床结果

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100 项与脊柱裂相关的转化医学

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0 项与脊柱裂相关的专利（医药）

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9,624

项与脊柱裂相关的文献（医药）

2025-12-01·Current Urology Reports

Nutritional Aspects of Spina Bifida Care: Optimizing Medical Management and Surgical Healing

Review

作者: Dudley, Anne G

PURPOSE OF REVIEWThis review aims to highlight background of contributing factors for suboptimal nutrition in individuals with spina bifida and introduce strategies for amelioration.RECENT FINDINGSRecent studies demonstrate increased risk of metabolic syndrome by neurosegmental level, which is associated with truncal obesity and reduced mobility. From the neonatal intensive care stay, which may disrupt breast feeding and the developing microbiome of the gastrointestinal tract, to early childhood various insults may lead to suboptimal feeding practices, preferences and dietary intake. Family coping skills, financial stressors may lead to food insecurity and/or residence in an area with limited availability of fresh food. As children grow, weakness and challenging transfers may lead to more sedentary lifestyle and weight gain despite limited linear growth. Body habitus changes including atrophy of the lower extremities may lead to decreased muscle mass and reduced energy expenditure, with predisposition to truncal obesity and metabolic syndrome.

2025-02-01·International Journal of Obstetric Anesthesia

Anesthetic management for fetal surgery: Lessons from a single-center experience (2019–2023)

Article

作者: Gielchinsky, Y. ; Tenenbaum-Gavish, K ; Orbach-Zinger, S. ; Azem, K. ; Idelson, A. ; Tenenbaum-Gavish, K. ; Duvdevani, N.R. ; Duvdevani, N R ; Fein, S ; Faruja, A. ; Idelson, A ; Azem, K ; Orbach-Zinger, S ; Gielchinsky, Y ; Yosef, L. ; Yosef, L ; Fein, S. ; Faruja, A

Fetal surgery presents distinctive anesthetic challenges due to the need to balance maternal and fetal safety. This retrospective study evaluates the anesthetic management strategies used at a single center for various fetal interventions, including fetoscopic laser photocoagulation, fetal endoluminal tracheal occlusion, bipolar cord coagulation, and fetoscopic spina bifida repair. We reviewed 195 fetal procedures performed between 2019 and 2023 at Rabin Medical Center. Data collected included maternal and fetal characteristics, anesthetic techniques (spinal, combined spinal-epidural, general), intraoperative hypotension, and perioperative complications. We examined the evolution of anesthetic practice, particularly focusing on hemodynamic management and postoperative pain control. Spinal anesthesia was increasingly preferred for shorter procedures such as fetoscopic laser photocoagulation and bipolar cord coagulation, while general anesthesia was used exclusively for spina bifida repair. Intraoperative hypotension was a significant issue, leading to the implementation of prophylactic phenylephrine infusions, which improved blood pressure control. A shift from volatile anesthesia to total intravenous anesthesia in spina bifida repair resulted in fewer complications, including reduced bleeding. Postoperative pain management was optimized with a multimodal approach, improving pain scores. This study underscores the importance of tailoring anesthetic techniques to the specific fetal surgery. Key improvements in hypotension management, adopting total intravenous anesthesia for complex surgeries, and optimized postoperative pain control have contributed to better maternal and fetal outcomes. Ongoing reassessment and adaptation of anesthetic protocols remain critical as fetal surgery evolves.

2025-01-01·Human Genetics and Genomics Advances

Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects

Article

作者: Ninnemann, Olaf ; Hu, Hao ; Kaindl, Angela M ; Weng, Kai ; Kaindl, Angela M. ; Kraemer, Nadine ; Mani, Shyamala ; Reid, Joshua ; Schneider, Joanna ; Li, Na ; Hildebrand, Michael ; Wang, Yanyan

Neural tube closure defect pathomechanisms in human embryonic development are poorly understood. Here we identified spina bifida patients expressing novel variants of the TOGARAM gene family. TOGARAM1 has been associated with the ciliopathy Joubert syndrome, but its connection to spina bifida and role in neural development is unknown. We show that Togaram1 is expressed in the neural tube and Togaram1 knockout mice have abnormal cilia, reduced sonic hedgehog (Shh) signaling, abnormal neural tube patterning, and display neural tube closure defects. Neural stem cells from Togaram1 knockout embryos showed reduced cilia and defects in Shh signaling. Overexpression in IMCD3 and HEK293 cells of TOGARAM1 carrying the variant found in the spina bifida patient resulted in cilia defect along with reduced pericentriolar material one (PCM1), a critical constituent of centriolar satellites involved in transporting proteins toward the centrosome and primary cilia. Our results demonstrate the role of TOGARAM1 in regulating Shh signaling during early neural development that is critical for neural tube closure and elucidates potential mechanisms whereby the ciliopathy-associated gene TOGARAM1 gives rise to spina bifida aperta in humans.

项与脊柱裂相关的新闻（医药）

2024-10-14

·微信

Nat Hum Behav｜陈子江团队循证研究揭示母亲肥胖对围产期及子代健康的影响

引言近年来，全球肥胖率不断攀升，肥胖已成为严重威胁人类可持续发展的公共卫生问题。与此同时，育龄女性的肥胖流行率亦呈现与普通人群同步增长的态势，成为该群体面临的最普遍健康问题之一【1】。大量观察性研究已证实母亲肥胖与多种不良妊娠结局及并发症的关联，如子痫前期、妊娠期糖尿病、胎膜早破等。对于子代，母亲肥胖可增加早产、巨大儿及出生缺陷的风险；从长远角度考量，母亲肥胖还会对子代健康产生持久的负面影响，增加子代罹患心血管代谢性疾病、神经发育异常，甚至癌症的风险【2,3】。值得注意的是，观察性研究往往受到混杂因素、过度显著性偏倚和选择性报告等问题的影响，导致观察到的效应量被夸大【4】。截至目前，针对该领域的相关证据尚缺乏全面而系统的综合评估。 2024年10月11日，山东大学生殖医学与子代健康全国重点实验室陈子江/赵涵/赵世刚研究团队在Nature Human Behaviour发表了题为 Maternal adiposity and perinatal and offspring outcomes: an umbrella review的研究论文【5】。该研究以伞形评价的方式系统性地梳理了母亲肥胖对围产期及子代健康 (涵盖出生缺陷、心血管代谢及生殖健康、神经发育及精神健康、癌症) 的影响，并对证据有效性和强度进行了全面评估。伞形评价作为一种继系统评价和荟萃 (meta) 分析之后的更高级别的循证医学分析方法，能够系统地收集并评估多个系统综述或meta分析中的现有证据，从而得出更为可靠和全面的结论。该团队系统检索了PubMed、Web of Science及Cochrane Library三大权威数据库，对8068篇文献进行严格筛选，最终纳入了共计194项观察性meta分析、10项孟德尔随机化研究；同时对8329篇文献进行严格筛选，最终纳入78项干预性meta分析进行伞形评价。研究团队通过一系列统计学标准 (包括meta分析P值、样本量大小、小样本研究效应、95%预测区间等) 对每一项观察性meta分析的证据水平强度和可信度进行了细致评估，并据此将它们划分为五个证据等级：Convincing (class I)、Highly Suggestive (class II)、Suggestive (class III)、Weak (class IV) 及Not Significant (NS)。文献筛选流程图（Credit: Nature Human Behaviour）结果显示，有17项 (占比8.8%) 观察性meta分析被评为最高证据等级Convincing (class I)，这些研究强有力地支持了母亲肥胖与12个不良围产期并发症及子代健康结局之间的关联，发现母亲肥胖可增加引产后剖宫产、新生儿1分钟Apgar评分低于7分、婴儿期死亡、产前抑郁发生风险，其子代患先天性心脏病、脊柱裂、脑瘫、女儿青春期提前以及注意力缺陷多动障碍的风险也大大增加。同时，这些高级别证据还支持母亲肥胖程度与子代脂肪质量及体脂比之间呈正相关关系。受最高等级 (Convincing) 证据支持的不良结局（Credit: Nature Human Behaviour）对于这12个受最高证据等级(Convincing)支持的不良健康结局，研究团队利用干预性meta分析和孟德尔随机化研究的结果来辅助验证观察性研究的结论。干预性meta分析证实了母亲孕前或孕期减重措施在降低产前抑郁风险方面的有效性，但在改善新生儿Apgar评分或调整子代脂肪质量及体脂比方面则未见显著成效，说明母亲肥胖带来的负面健康影响并不是都能通过孕前或孕期减重干预来改善的。此外，孟德尔随机化研究证实了母亲肥胖与子代体重及体脂之间的因果关系，这一结论支持观察性研究的结果；但孟德尔随机化研究并未发现母亲肥胖与先天缺陷之间的关联。更大比例的观察性meta分析 (17.5%，34项)，被评为Highly Suggestive (class II)。这些meta分析支持母亲肥胖与妊娠期糖尿病、子痫前期、剖宫产、早产、死产、巨大儿、子代BMI增高、收缩压增高、子代患I型糖尿病等结局的关联。此外，12.9% (25项) 的观察性meta分析被评为Suggestive (class III)，涉及胎膜早破、肩难产、过期产、产后出血等不良妊娠结局，子代自闭症、唇腭裂、智力发育异常、白血病等缺陷。30.9% (60项) 的观察性meta分析仅被评为Weak (class IV)；剩余29.9% (58项) 未显示出显著关联。 Convincing和Highly Suggestive证据支持母亲肥胖与36种不良结局的关联（Credit: Nature Human Behaviour）为确保研究结论的稳健性，研究团队还进行了一系列敏感性分析，分别探讨了原始研究设计类型 (即队列研究、病例对照研究、横断面研究) 及原始研究方法学质量 (依据NOS量表评估) 对证据等级评估结果的影响。结果显示，在仅纳入队列研究或仅纳入高质量原始研究时，原先被评为Convincing (class I) 的观察性meta分析依然稳固地保持了其最高证据等级，证实了结果的可靠性和稳健性。综上所述，本研究通过伞形评价的方式，系统地总结并评估了母亲肥胖与围产期及子代结局之间的现有证据。值得注意的是，现有的孟德尔随机化研究仍然不足，特别是在涉及子代结局方面。孕前及孕期减重干预虽能减少部分母亲肥胖带来的不良健康影响，但并非全部。随着肥胖成为全球流行病，未来亟需进一步的干预性和因果研究以确定母体肥胖对围产期和子代健康的全面影响，帮助制定更有效的疾病预防策略。参考文献 [1] Creanga, A. A., Catalano, P. M. & Bateman, B. T. Obesity in pregnancy. N. Engl. J. Med. 387, 248–259 (2022). [2] Poston, L. et al. Preconceptional and maternal obesity: epidemiology and health consequences. Lancet Diabetes Endocrinol. 4, 1025–1036 (2016). [3] Razaz, N., Villamor, E., Muraca, G. M., Bonamy, A.-K. E. & Cnattingius, S. Maternal obesity and risk of cardiovascular diseases in offspring: a population-based cohort and sibling-controlled study. Lancet Diabetes Endocrinol. 8, 572–581 (2020). [4] Ioannidis, J. P. A. Why most discovered true associations are inflated. Epidemiology 19, 640–648 (2008). [5] Yang, ZY. et al. Maternal adiposity and perinatal and offspring outcomes: an umbrella review. Nature human behaviour. (2024). https://www.nature.com/articles/s41562-024-01994-6 责编|探索君排版|探索君文章来源|“BioArt” End 往期精选围观一文读透细胞死亡(Cell Death) | 24年Cell重磅综述（长文收藏版）热文 Cell | 是什么决定了细胞的大小？热文 Nature | 2024年值得关注的七项技术热文 Nature | 自身免疫性疾病能被治愈吗？科学家们终于看到了希望热文 CRISPR技术进化史 | 24年Cell综述

AHA会议

2024-10-04

·GlobeNewswire-Health Care

Shriners Hospitals for Children Canada Hosts 36th Canada Shrine Bowl

Celebrating 100 years of caring for childrenMONTREAL, Oct. 04, 2024 (GLOBE NEWSWIRE) -- The 36th edition of the Canada Shrine Bowl will take place on Saturday, October 5 at 1 p.m. at Concordia Stadium, 7200 Sherbrooke Street West in Montreal. Each year, the game raises awareness about our patients and the pediatric specialty care thousands of them receive annually. Shriners Children’s Canada will be celebrating its 100th anniversary this year and has provided pediatric specialty care to thousands of patients over that time. This year’s game will also feature two patient ambassadors, Finley and Émerick, to proudly represent the hospital. This year's matchup is between the Concordia University Stingers against the Sherbrooke University Vert & Or. The public is invited to attend this annual event in support of Shriners Hospitals for Children Canada. Kevin Regimbald, head coach of the Vert & Or, and Brad Collinson, head coach of the Concordia Stingers, are all set for this superb sporting match between the two teams. This year, Montreal Alouettes player, Kristian Matte, will be the guest of honor. Accompanied by the Karnak Shriners, he will co-chair the opening and closing ceremonies of the game. Finley Finley was born with congenital scoliosis, missing and misshapen vertebrae, along with several rib anomalies. In addition to these spinal conditions, she faces spina bifida occulta, ketotic hypoglycemia, and severe asthma. Despite these challenges, Finley has never let her diagnoses define her. Since the age of 1, she has been traveling from Calgary to Montreal to see Dr. Ouellet at Shriners Hospitals for Children Canada. Thanks to the expert care she receives, Finley can enjoy her favorite activities—swimming, biking, gymnastics, and dancing. Her greatest joy comes from doing handstands and cartwheels, proving that nothing can hold her back! Émerick Émerick, 8 years old, was diagnosed with cerebral palsy, which made it hard for him to move. After a long, three-year wait for surgery at another hospital, his family found hope at Shriners Hospitals for Children Canada, known for its quick and excellent care. Within months, Émerick had a life-changing surgery called selective dorsal rhizotomy, which has helped him gain independence. Now, he can kick a soccer ball, walk with special aids, and stand longer without support. In just six months, Émerick has made incredible progress, showing his determination and the amazing support he has received. The public is welcome to attend the Shrine Bowl. The doors will open at 11:00 am on Saturday, October 5. To purchase tickets, go to Stingers.ca | Buy Tickets. If you cannot attend the game but still wish to donate for our patients, you can send an e-transfer to moncontribution@shrinenet.org (include your full name and address to receive a tax receipt). About Shriners Hospitals for Children Canada Established in Montreal in 1925, Shriners Hospital for Children ─ Canada is the only Canadian facility within the extensive Shriners Hospitals network. A bilingual hospital, it offers ultra-specialized acute orthopedic care to children from Canada, the United States and around the world. The hospital's mission is to promote health and provide treatment and rehabilitation for infants, children and young adults with orthopedic and neuromuscular conditions such as scoliosis, osteogenesis imperfecta, clubfoot, hip dysplasia and cerebral palsy. The hospital is committed to excellence and innovation in clinical practice, research and education. Affiliated with McGill University, the hospital enables resident physicians and healthcare professionals to take advantage of its facilities on the Glen site to further their training and experience. In addition to offering a patient- and family-centered care environment, the hospital is present in communities across Canada through telemedicine, outreach clinics and satellite clinics. Laure Moureaux, Communications Advisor, Shriners Hospitals for Children Canada 514-282-7222 / Cell: 514-207-2267, lmoureaux@shrinenet.org Chloe Ricciardi, Public Relations, Concordia University 514-796-7969, chloe.ricciardi@concordia.ca

2024-09-19

·PRNewswire

Dignify Therapeutics awarded two new research grants from the National Institutes of Health (NIH)

RESEARCH TRIANGLE PARK, N.C., Sept. 19, 2024 /PRNewswire/ -- Dignify Therapeutics (Dignify), a leading developer of therapies for bladder and bowel dysfunction, recently received two significant research grants from the NIH. These grants add to the previous $20 million in research funding the company has received to advance multiple therapeutics for bladder and bowel disorders. Grants include R43DK138600 from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and R43AG088838 from the National Institute on Aging (NIA). Dr. Karl B. Thor, Chief Scientific Officer and Investigator on the grants indicated; "We are very grateful that multiple Institutes at the NIH support the severe, unmet, medical need for therapies to restore control of bladder and bowel dysfunction. These therapies are directed toward the elderly and people with neurological conditions such as spinal injury, multiple sclerosis, spina bifida, and diabetes. The needs of these populations are typically not discussed publicly by those afflicted and their caregivers and thus remain an unrecognized and underappreciated burden for them." He further emphasized; "Bladder and bowel dysfunction are top reasons for institutionalization of the elderly due to the heavy burdens associated with domestic caregiving. Similarly, restoration of bladder and bowel dysfunction in people with spinal injury is more important to them than restoration of their ability to walk." The new grants will allow Dignify to expand its therapeutic research and development efforts into providing innovative drug therapies for treating urinary and fecal incontinence, respectively. Similar to the unmet medical need for drugs to induce on-demand voiding in the elderly and people with neurological conditions, there is also a severe need in these same populations to prevent incontinence episodes. Dr. Qiaojuan Zhang, Principal Investigator on grant R43AG088838, will join Dignify from Duke University Department of Neurology to lead the NIA-sponsored research. About Dignify Therapeutics Founded by a team of serial entrepreneurs who are internationally recognized scientists and clinicians, Dignify's mission is to provide safe, effective, practical and convenient, "on-demand" pharmaceutical agents to treat bladder and bowel voiding dysfunctions. The company has been funded by RA Capital Management, Eshelman Ventures, the North Carolina Biotechnology Center, NIDDK, NINDS, NICHD, NIA, US Defense Department, and the One NC Small Business Program. Dignify is located at the First Flight Venture Center in Research Triangle Park, North Carolina. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. SOURCE Dignify Therapeutics WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED