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Orthopaedic Surgery Aug 2022To analyze the intraoperative neurophysiological monitoring (IONM) data of patients with intraspinal abnormalities undergoing posterior spinal fusion and to determine...
OBJECTIVE
To analyze the intraoperative neurophysiological monitoring (IONM) data of patients with intraspinal abnormalities undergoing posterior spinal fusion and to determine how intraspinal abnormalities influence IONM results.
METHODS
Patients with severe kyphoscoliosis and intraspinal abnormalities who underwent posterior spinal correction and fusion between September 2015 and January 2019 were retrospectively reviewed. Candidate intraspinal abnormalities included Chiari malformation, syringomyelia, split cord malformation, and tethered cord syndrome. Total intravenous anesthesia was administered, and no muscle relaxant or inhalation anesthesia was used for maintenance. IONM data, including somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP), were recorded. The P37 and N50 latencies and amplitude were recorded for SSEP, whereas only the amplitude was recorded for MEP. The possible high-risk factors for abnormal IONM results were analyzed.
RESULTS
The current study included 87 patients (40 men, 47 women) with an average age of 20.2 ± 10.4 years. The etiologies were neuromuscular in 45 patients, idiopathic in four, and congenital in 38. A total of 136 intraspinal abnormalities were detected, including Chiari malformation in 33 patients, syringomyelia in 55, split-cord malformation in 25, and tethered cord syndrome in 23. Forty patients had one intraspinal abnormality, whereas 47 patients had two or three intraspinal abnormalities. The monitorabilities were 87.4% and 97.7% for the SSEP and MEP, respectively. SSEP alerts were reported in five patients and MEP alerts in four patients, and new neurological deficits were observed in three patients postoperatively. The sensitivity and specificity were 100% and 97.3% for SSEP, and 100% and 98.8% for MEP, respectively. A significant difference in MEP amplitude between the concave and convex sides was observed, while significantly higher SSEP latency was observed on the concave side in patients with preoperative neurological deficits. There were 52 (59.8%) patients with abnormal IONM data. Preoperative neurological deficits (χ = 7.715, p = 0.005) and more than one intraspinal abnormality (χ = 9.186, p = 0.004) indicated a higher risk of abnormal IONM data.
CONCLUSIONS
IONM can be effectively used in patients with intraspinal abnormalities who undergo posterior spinal fusion. Patients with preoperative neurological deficits and more than one intraspinal abnormality have a higher risk of abnormal IONM monitoring.
Topics: Adolescent; Adult; Child; Female; Humans; Intraoperative Neurophysiological Monitoring; Male; Neural Tube Defects; Retrospective Studies; Spinal Fusion; Syringomyelia; Young Adult
PubMed: 35711107
DOI: 10.1111/os.13353 -
Journal of Pediatric Rehabilitation... 2020The life expectancy for people with spina bifida has increased, thus resulting in greater need for guidelines in urologic care in order to protect normal renal function,... (Review)
Review
PURPOSE
The life expectancy for people with spina bifida has increased, thus resulting in greater need for guidelines in urologic care in order to protect normal renal function, to develop strategies for urinary continence, and to advance independence through adult years.
METHODS
The English literature was assessed from 2002-2015; greater than 300 publications identified. Case reports and opinion pieces were eliminated leaving 100 for in depth review. Clinical questions were then established for each age group that allowed for focused assessment.
RESULTS
There was no Level 1 evidence for any of the defined clinical questions. This resulted in group consensus for all questions throughout all age groups. Guidelines were provided for identifying a symptomatic urinary infection, the role of urodynamic bladder testing and identification of bladder hostility, determining methods of renal function assessment and surveillance, the initiation of continence control, and transitioning to self-care through the teen and adult years.
CONCLUSION
Urologic guidelines continue to be based on clinical consensus due to the lack of high level evidence-based research. Further research is required in all aspects of urologic management. While not the "Standard of Care," these guidelines should be considered "Best Practice".
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Practice Guidelines as Topic; Spinal Dysraphism; Urinary Bladder; Urinary Bladder, Neurogenic; Urodynamics; Young Adult
PubMed: 33252091
DOI: 10.3233/PRM-200712 -
Journal of Pediatric Rehabilitation... 2020Bowel dysfunction, such as constipation and fecal incontinence, has a significant impact on health, activities of daily living, and quality of life among people with... (Review)
Review
PURPOSE
Bowel dysfunction, such as constipation and fecal incontinence, has a significant impact on health, activities of daily living, and quality of life among people with spina bifida. Secondary complications may result from bowel dysfunction and include urologic dysfunction, loss of skin integrity, shunt (hydrocephalus) function, as well as loss of social opportunities and employability.
METHODS
Using a consensus building methodology, the guidelines for management of bowel dysfunction in spina bifida were written by experts in the field of spina bifida and bowel function and care.
RESULTS
The evidence-based guidelines are presented in table format and provide age-specific recommendations to achieve fecal continence without constipation. Recommended treatments are presented from least to most invasive options. Literature supporting the recommendations and the interval research published to date is also presented.
CONCLUSION
These guidelines present a standardized approach to management of bowel dysfunction in spina bifida. Bowel management in children and young adults with spina bifida is limited by variability in clinical practice and paucity of robust research in neurogenic bowel. Collaborative multi-institutional efforts are needed to overcome research barriers and provide innovative solutions.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Intestinal Diseases; Male; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33252093
DOI: 10.3233/PRM-200724 -
Journal of Pediatric Rehabilitation... 2020Nutritional challenges and a lack of activity can lead to health problems across the lifespan for people with spina bifida. Children and adults with spina bifida are... (Review)
Review
Nutritional challenges and a lack of activity can lead to health problems across the lifespan for people with spina bifida. Children and adults with spina bifida are also at greater risk of being classified as overweight or obese compared to their peers without the condition. Therefore, early recognition of nutrition problems, weight management counseling, and timely referrals for evaluation and management of diet and activity can help those with spina bifida and their families achieve a healthy lifestyle. This article details the development of the Nutrition, Metabolic Syndrome and Obesity Guidelines, which are part of the 2018 Spina Bifida Association's Fourth Edition of the Guidelines for the Care of People with Spina Bifida. It discusses the identification and management of poor nutrition and prevention of obesity for children, adolescents, and adults with spina bifida and highlights areas requiring further research.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolic Syndrome; Nutritional Physiological Phenomena; Obesity; Practice Guidelines as Topic; Spinal Dysraphism; Young Adult
PubMed: 33325412
DOI: 10.3233/PRM-200753 -
PloS One 2023Maternal folic acid supplementation is protective against the development of neural tube defects (NTDs) in babies. However, recent public-facing communications have...
BACKGROUND
Maternal folic acid supplementation is protective against the development of neural tube defects (NTDs) in babies. However, recent public-facing communications have raised concerns about a causal relationship between folic acid supplementation, particularly after the first trimester, and ankyloglossia (tongue-tie) in infants. Non-evidence-based communications are potentially harmful because they could adversely affect adherence to folic acid supplementation, increasing NTD occurrence. This study aimed to review evidence on the relationships between maternal folic acid supplementation during preconception and/or pregnancy and the risk of ankyloglossia in infants.
METHODS
We searched the databases MEDLINE, EMBASE, Cochrane CENTRAL, and Scopus. We searched for observational, and interventional studies, and systematic reviews investigating the effect of maternal folic acid supplementation during preconception or pregnancy on the occurrence of ankyloglossia in offspring. The search was registered on PROSPERO on 01/12/2022, ID: CRD42022375862.
RESULTS
The database searches yielded 93 articles. After removing duplicates and screening titles and abstracts, 26 remained. One article was judged relevant for inclusion in analyses; a case-control study that directly mentions the relationship between folic acid supplementation and ankyloglossia. This study reported that regular intake of folic acid supplements was higher in women with infants with ankyloglossia. However, this study has limitations regarding design, selection bias, and confounding, calling the findings into question.
CONCLUSIONS
Insufficient evidence exists for a relationship between folic acid supplementation and ankyloglossia. Currently, the benefits of folic acid supplementation far outweigh the risks. This must be clearly communicated to patients by their clinicians during preconception and antenatal care.
Topics: Female; Pregnancy; Infant; Humans; Ankyloglossia; Case-Control Studies; Folic Acid; Dietary Supplements; Neural Tube Defects; Tongue
PubMed: 37922258
DOI: 10.1371/journal.pone.0294042 -
Journal of Pediatric Rehabilitation... 2020Women and girls with spina bifida have specific health care concerns. It is essential that they, and their health care providers have access to information to help them... (Review)
Review
Women and girls with spina bifida have specific health care concerns. It is essential that they, and their health care providers have access to information to help them make healthy choices throughout their lifespan. This article aims to address key aspects of health pertinent to girls and women with spina bifida and outlines the SB Women's Health Guidelines for the Care of People with Spina Bifida. Further research into this area is needed.
Topics: Adolescent; Adult; Child; Female; Humans; Practice Guidelines as Topic; Spinal Dysraphism; Women's Health; Young Adult
PubMed: 33325413
DOI: 10.3233/PRM-200757 -
BMC Pregnancy and Childbirth Apr 2022The aim of this study is to determine the frequency of neural tube defects (NTDs) and to examine the epidemiological characteristics of NTD related deaths in Turkey.
OBJECTIVE
The aim of this study is to determine the frequency of neural tube defects (NTDs) and to examine the epidemiological characteristics of NTD related deaths in Turkey.
METHODS
This nationwide descriptive study was included NTD related infant deaths, termination of pregnancy for fetal anomaly (ToPFA) and stillbirth cases registered in Death Notification System between 2014 and 2019, and patients diagnosed with NTD in the 2018 birth cohort.
FINDINGS
In the 2018 birth cohort, there were 3475 cases of NTD at birth (27.5 per 10,000). The fatality rates for live-born babies with NTD in this cohort were 13.5% at first year, and 15.6% at the end of March, 2022. NTDs were associated with 11.7% of ToPFA cases, 2.5% of stillbirths and 2.8% of infant deaths in 2014-2019. NTD related stillbirth rate was 1.74 per 10,000 births, while NTD related ToPFA rate and infant mortality rate were 0.61 and 2.70 per 10,000 live births respectively. NTD-related stillbirth and infant mortality rate were highest in the Eastern region (3.64 per 10,000 births; 4.65 per 10,000 live births respectively), while ToPFA rate was highest in the North and West regions (1.17 and 0.79 per 10,000 live births respectively) (p < 0.05). Prematurity and low birth weight were the variables with the highest NTD related rates for stillbirths (11.26 and 16.80 per 10,000 birth), ToPFA (9.25 and 12.74) per 10,000 live birth), and infant deaths (13.91 and 20.11 per 10,000 live birth) (p < 0.05).
CONCLUSION
NTDs are common and have an important place among the mortality causes in Turkey. Primary prevention through mandatory folic acid fortification should be considered both to reduce the frequency of NTD and related mortality rates.
Topics: Female; Folic Acid; Humans; Infant; Infant Death; Infant, Newborn; Neural Tube Defects; Pregnancy; Prevalence; Stillbirth; Turkey
PubMed: 35439969
DOI: 10.1186/s12884-022-04678-z -
Current Diabetes Reports Sep 2020Fetuses of diabetic mothers are at increased risk for congenital malformations. Research in recent decades using animal and embryonic stem cell models has revealed many... (Review)
Review
PURPOSE OF REVIEW
Fetuses of diabetic mothers are at increased risk for congenital malformations. Research in recent decades using animal and embryonic stem cell models has revealed many embryonic developmental processes that are disturbed by maternal diabetes. The aim of this review is to give clinicians a better understanding of the reasons for rigorous glycemic control in early pregnancy, and to provide background to guide future research.
RECENT FINDINGS
Mouse models of diabetic pregnancy have revealed mechanisms for altered expression of tissue-specific genes that lead to malformations that are more common in diabetic pregnancies, such as neural tube defects (NTDs) and congenital heart defects (CHDs), and how altered gene expression causes apoptosis that leads to malformations. Embryos express the glucose transporter, GLUT2, which confers susceptibility to malformation, due to high rates of glucose uptake during maternal hyperglycemia and subsequent oxidative stress; however, the teleological function of GLUT2 for mammalian embryos may be to transport the amino sugar glucosamine (GlcN) from maternal circulation to be used as substrate for glycosylation reactions and to promote embryo cell growth. Malformations in diabetic pregnancy may be not only due to excess glucose uptake but also due to insufficient GlcN uptake. Avoiding maternal hyperglycemia during early pregnancy should prevent excess glucose uptake via GLUT2 into embryo cells, and also permit sufficient GLUT2-mediated GlcN uptake.
Topics: Animals; Diabetes, Gestational; Female; Humans; Hyperglycemia; Mice; Neural Tube Defects; Oxidative Stress; Pregnancy; Pregnancy in Diabetics
PubMed: 32918152
DOI: 10.1007/s11892-020-01338-4 -
Frontiers in Immunology 2022The fortification of flour with folic acid for the prevention of neural tube defects (NTD) is currently mandated in over eighty countries worldwide, hence compelling its...
The fortification of flour with folic acid for the prevention of neural tube defects (NTD) is currently mandated in over eighty countries worldwide, hence compelling its consumption by the greater part of the world's population. Notwithstanding its beneficial impact on rates of NTD, pervasive folic acid supplementation has invariably led to additive daily intakes reaching well beyond their original target, resulting in the circulation of unmetabolized folic acid. Associated idiopathic side-effects ranging from allergies to cancer have been suggested, albeit inconclusively. Herein, we hypothesize that their inconsistent detection and elusive etiology are linked to the generation of the immunosuppressive folic acid metabolite 6-formylpterin, which interferes with the still emerging and varied functions of Major Histocompatibility Complex-related molecule 1 (MR1)-restricted T cells. Accordingly, we predict that fortification-related adverse health outcomes can be eliminated by substituting folic acid with the bioequivalent folate vitamer 5-methyltetrahydrofolate, which does not break down into 6-formylpterin.
Topics: Drug-Related Side Effects and Adverse Reactions; Flour; Folic Acid; Food, Fortified; Histocompatibility Antigens Class I; Humans; Minor Histocompatibility Antigens; Neural Tube Defects
PubMed: 36016938
DOI: 10.3389/fimmu.2022.946713 -
Pediatric and Developmental Pathology :... 2022Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases.
INTRODUCTION
Spina bifida (SB) is the most common neural tube defect in humans. Here, we analyzed systematically the neuropathological findings of the brain in SB cases.
METHODS
79 cases with SB aperta (SBA) and 6 cases with SB occulta (SBO) autopsied at the Charité Neuropathology from 1974 to 2000 were re-evaluated retrospectively. For this, case files and spinal cord as well as brain sections were studied.
RESULTS
While no brain malformations were detected in SBO cases, 95% of SBA cases had brain malformations. Main brain anomalies identified were hydrocephalus (71%), Chiari II malformation (36%), heterotopia (34%), other cerebellar anomalies (36%), gyrification defects (33%), and ependymal denudation (29%). Hydrocephalus was observed as early as gestational week 17 and was highly associated to Chiari II and ependymal denudation. In 55% SBA was accompanied by further anomalies not primarily affecting the CNS.
CONCLUSION
We confirm using neuropathologic methods brain malformations in most SBA but none in SBO cases. In addition to our previous radiologic study, we now demonstrate the high prevalence of cerebellar malformations and cerebral heterotopias in SBA. The early detection of hydrocephalus and Chiari II malformation in fetuses raises the question whether these arise parallel rather than in strict temporal sequence.
Topics: Arnold-Chiari Malformation; Humans; Hydrocephalus; Nervous System Malformations; Retrospective Studies; Spinal Dysraphism
PubMed: 34614376
DOI: 10.1177/10935266211040500