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The Western Journal of Medicine Feb 1975
Topics: Female; Genetic Counseling; Humans; Infant, Newborn; Meningomyelocele; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism
PubMed: 1090092
DOI: No ID Found -
Proceedings of the Royal Society of... Jun 1963
Topics: Humans; Hydrocephalus; Meningomyelocele; Postoperative Care; Spinal Dysraphism; Urinary Incontinence
PubMed: 13937597
DOI: No ID Found -
Fetal Diagnosis and Therapy 2015Myelomeningocele (MMC), the most severe form of spina bifida, is a common and devastating malformation. Over two decades of experimental work in animal models have led... (Review)
Review
Myelomeningocele (MMC), the most severe form of spina bifida, is a common and devastating malformation. Over two decades of experimental work in animal models have led to the development and clinical application of open fetal surgery for the repair of the MMC defect. This approach offers improved neurofunctional outcomes and is now a clinical option for the management of prenatally diagnosed MMC in selected patients. However, there are still opportunities for further improvement in the prenatal treatment of MMC. A less invasive approach would allow for an application earlier in gestation, with a reduction in maternal and fetal risks and the potential for reduced neurological injury. Tissue engineering offers a realistic and appealing alternative approach for the prenatal treatment of MMC. This review discusses the rationale for tissue engineering in MMC, addresses recent experimental progress and describes potential future directions.
Topics: Animals; Fetal Diseases; Fetal Therapies; Meningomyelocele; Minimally Invasive Surgical Procedures; Models, Animal; Tissue Engineering; Transplantation, Autologous
PubMed: 25060746
DOI: 10.1159/000362931 -
Einstein (Sao Paulo, Brazil) 2018
Topics: Adult; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Meningomyelocele; Pregnancy; Tomography, X-Ray Computed
PubMed: 29694608
DOI: 10.1590/s1679-45082018ai4123 -
Seminars in Fetal & Neonatal Medicine Feb 2010Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical... (Review)
Review
Myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. In-utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. It is estimated that about 400 fetal operations have now been performed for MMC worldwide. Despite this large experience, the technique remains of unproven benefit. Preliminary results suggest that fetal surgery results in reversal of hindbrain herniation (the Chiari II malformation), a decrease in shunt-dependent hydrocephalus, and possibly improvement in leg function, but these findings might be explained by selection bias and changing management indications. A randomized prospective trial (the MOMS trial) is currently being conducted by three centers in the USA, and is estimated to be completed in 2010. Further research is needed to better understand the pathophysiology of MMC, the ideal timing and technique of repair, and the long-term impact of in-utero intervention.
Topics: Arnold-Chiari Malformation; Female; Fetal Diseases; Fetus; Humans; Hydrocephalus; Meningomyelocele; Pregnancy; Prenatal Diagnosis; Spina Bifida Cystica
PubMed: 19540177
DOI: 10.1016/j.siny.2009.05.002 -
Best Practice & Research. Clinical... Feb 2008Open spina bifida remains a major source of disability despite an overall decrease in incidence. It is frequently diagnosed prenatally and can thus - potentially - be... (Review)
Review
Open spina bifida remains a major source of disability despite an overall decrease in incidence. It is frequently diagnosed prenatally and can thus - potentially - be treated by fetal surgery. Animal studies and preliminary human studies strongly suggest that at least a portion of the neurological abnormalities seen in these patients are secondary, and occur in mid-gestation. It is estimated that approximately 400 fetal operations have now been performed for myelomeningocele world wide. Despite this large experience, the technique remains of unproven benefit. Preliminary results suggest that fetal surgery results in reversal of hindbrain herniation (the Chiari II malformation), a decrease in shunt-dependent hydrocephalus, and possibly improvement in leg function, but these findings might be explained by selection bias and changing management indications. A randomized prospective trial (the MOMS trial) is currently being conducted by three centers in the United States, and is estimated to be completed in 2009.
Topics: Animals; Disease Models, Animal; Female; Fetal Therapies; Humans; Hydrocephalus; Meningomyelocele; Neural Tube Defects; Obstetric Labor, Premature; Pregnancy; Prenatal Diagnosis; Randomized Controlled Trials as Topic
PubMed: 17714997
DOI: 10.1016/j.bpobgyn.2007.07.004 -
Seminars in Pediatric Surgery Feb 2013Open spina bifida or myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the... (Review)
Review
Open spina bifida or myelomeningocele (MMC) is a common birth defect that is associated with significant lifelong morbidity. Little progress has been made in the postnatal surgical management of the child with spina bifida. Postnatal surgery is aimed at covering the exposed spinal cord, preventing infection, and treating hydrocephalus with a ventricular shunt. Experimental and clinical evidence suggest that the primary cause of the neurologic defects associated with MMC is not simply incomplete neurulation, but rather chronic, mechanical and amniotic-fluid induced chemical trauma that progressively damages the exposed neural tissue during gestation. The cerebrospinal fluid leak through the MMC leads to hindbrain herniation and hydrocephalus. In utero repair of open spina bifida is now performed in selected patients and presents an additional therapeutic alternative for expectant mothers carrying a fetus with MMC. In the past, studies in animal models and clinical case series laid the groundwork for a clinical trial to test the safety and efficacy of fetal MMC repair. In the present, a prospective, randomized study (the MOMS trial) has shown that fetal surgery for MMC before 26 weeks' gestation may preserve neurologic function, reverse the hindbrain herniation of the Chiari II malformation, and obviate the need for postnatal placement of a ventriculoperitoneal shunt. However, this study also demonstrates that fetal surgery is associated with significant risks related to the uterine scar and premature birth. In the future, research will expand our understanding of the pathophysiology of MMC, evaluate the long-term impact of in-utero intervention, and to refine timing and technique of fetal MMC surgery using tissue engineering technology.
Topics: Female; Fetal Therapies; Fetoscopy; Fetus; Humans; Infant, Newborn; Meningomyelocele; Pregnancy; Prenatal Diagnosis; Randomized Controlled Trials as Topic; Spina Bifida Cystica; Treatment Outcome
PubMed: 23395140
DOI: 10.1053/j.sempedsurg.2012.10.003 -
Gynecologie, Obstetrique, Fertilite &... Feb 2022Fetal myelomeningocele surgery was introduced in France in 2014. Developments in prenatal diagnosis of neural tube defects have accompanied the development of prenatal...
Fetal myelomeningocele surgery was introduced in France in 2014. Developments in prenatal diagnosis of neural tube defects have accompanied the development of prenatal diagnosis. This fetal surgery represents one of the three possible care paths for pregnant women faced with this prenatal diagnosis. The ethical issues of this fetal surgery are discussed and in particular regarding prenatal counselling and patient autonomy of choice.
Topics: Female; France; Humans; Meningomyelocele; Pregnancy; Prenatal Diagnosis
PubMed: 34656790
DOI: 10.1016/j.gofs.2021.10.006 -
Topics in Spinal Cord Injury... 2022The purpose of this review is to describe the current scientific literature on the prevalence of metabolic syndrome in children with myelomeningocele and to gain insight... (Review)
Review
OBJECTIVES
The purpose of this review is to describe the current scientific literature on the prevalence of metabolic syndrome in children with myelomeningocele and to gain insight into the baseline levels of aerobic fitness, endurance, and strength in this population in order to identify gaps in knowledge, suggest potential primary prevention strategies, and provide recommendations for future studies.
METHODS
A literature review of articles published in English and French between 1990 and April 2020 was conducted.
RESULTS
Obese adolescents with myelomeningocele have an increased prevalence of components of the metabolic syndrome. Children and adolescents with myelomeningocele have decreased aerobic fitness and muscular strength, decreased lean mass, and increased fat mass, all of which, when combined with higher levels of physical inactivity, put them at higher risk of developing metabolic syndrome and cardiovascular diseases.
CONCLUSION
Until more research is conducted, addressing weight-related challenges and promoting healthy habits (such as optimal activity levels) could be easily integrated into yearly myelomeningocele clinics. An actionable suggestion might be to systematically weigh and measure children in these clinics and utilize the results and trends as a talking point with the parents and children. The follow-up appointments could also be used to develop physical activity goals and monitor progress. We recommend that the health care practitioner tasked with this intervention (physician, nurse, etc.) should be aware of locally available accessible sports platforms and have knowledge of motivational interviewing to facilitate removal of perceived barriers to physical activity.
Topics: Adolescent; Child; Exercise; Humans; Meningomyelocele; Metabolic Syndrome; Muscle Strength; Spinal Cord Injuries
PubMed: 36017122
DOI: 10.46292/sci21-00032 -
Developmental Disabilities Research... 2010The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly... (Review)
Review
The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public health officials to design and implement policies to prevent NTD pregnancies, and (c) individuals to take precautions to reduce the chance of having an NTD-affected pregnancy. Despite extensive research, our knowledge of the genetic etiology of human NTDs is limited. Although more than 200 small animal models with NTDs exist, most of these models do not replicate the human disease phenotype. Over a hundred candidate genes have been examined for risk association to human SB. The candidate genes studied include those important in folic acid metabolism, glucose metabolism, retinoid metabolism, and apoptosis. Many genes that regulate transcription in early embryogenesis and maintain planar cell polarity have also been tested as candidates. Additionally, genes identified through mouse models of NTDs have been explored as candidates. We do not know how many genes in the human genome may confer risk for NTDs in human. Less than 20% of the studied candidate genes have been determined to confer even a minor effect on risk association. Many studies have provided conflicting conclusions due to limitations in study design that potentially affect the power of statistical analysis. Future directions such as genomewide association studies (GWAS) and whole exome or even whole genome sequencing are discussed as possible avenues to identify genes that affect risk for human NTDs.
Topics: Birth Order; Ethnicity; Female; Fever; Folic Acid Deficiency; Gene Expression; Genome-Wide Association Study; Genotype; Glucose; Humans; Meningomyelocele; Neural Tube Defects; Parents; Phenotype; Pregnancy; Pregnancy Complications; Pregnancy Trimester, First; Prenatal Diagnosis; Socioeconomic Factors; Spinal Dysraphism; Vitamin B 12 Deficiency
PubMed: 20419766
DOI: 10.1002/ddrr.93