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Magnetic Resonance Imaging Clinics of... Aug 2024This review covers the embryology, definition, and diagnosis of open spinal dysraphism with a focus on fetal ultrasound and MR imaging findings. Differentiating open... (Review)
Review
This review covers the embryology, definition, and diagnosis of open spinal dysraphism with a focus on fetal ultrasound and MR imaging findings. Differentiating open versus closed spinal dysraphic defects on fetal imaging will also be discussed. Current fetal surgery practices and imaging findings in the context of fetal surgery are also reviewed.
Topics: Humans; Magnetic Resonance Imaging; Female; Spine; Pregnancy; Prenatal Diagnosis; Spinal Dysraphism; Ultrasonography, Prenatal; Fetal Diseases
PubMed: 38944432
DOI: 10.1016/j.mric.2024.01.004 -
Bratislavske Lekarske Listy 2024Anencephaly, a fatal anomaly of the central nervous system, belongs to the group of defects of the neural tube (NTDs). It is considered the most common congenital NTD,...
Anencephaly, a fatal anomaly of the central nervous system, belongs to the group of defects of the neural tube (NTDs). It is considered the most common congenital NTD, characterized by concurrent absence of a significant portion of the brain and cranial vault. This deformity occurs between days 23 and 26 after fertilization due to improper closure of the neural tube at its cranial end. Many genetic, epigenetic, and non-genetic factors (nutritional, environmental and geographical factors, parental socioeconomic status) contribute to the etiology of this disease. Despite significant advances in treatment and preventive measures, NTDs continue to pose a significant health and financial burden on patients and society as a whole. This study aimed to examine the incidence of anencephaly in Slovakia compared to the Czech Republic between 2012 and 2020. The authors seek to elucidate the reasons behind the higher incidence of this disease in Slovakia as compared to the Czech Republic, explore the male predominance of anencephaly in Slovakia, and investigate whether the prevention standards used in Slovakia differ from those employed in other countries (Tab. 1, Fig. 2, Ref. 129). Keywords: neural tube defects, anencephaly, risk factors, folic acid, food fortification.
Topics: Slovakia; Humans; Czech Republic; Anencephaly; Risk Factors; Female; Incidence; Male; Pregnancy; Embryonic Development
PubMed: 38943500
DOI: 10.4149/BLL_2024_62 -
Nutrients Jun 2024Folate is a water-soluble B vitamin involved in the synthesis of purines and pyrimidines and is one of the essential vitamins for human growth and reproduction. Folate... (Review)
Review
Folate is a water-soluble B vitamin involved in the synthesis of purines and pyrimidines and is one of the essential vitamins for human growth and reproduction. Folate deficiency due to low dietary intake, poor absorption of folate, and alterations in folate metabolism due to genetic defects or drug interactions significantly increases the risk of diseases such as neural tube defects, cardiovascular disease, cancer, and cognitive dysfunction. Recent studies have shown that folate deficiency can cause hyperhomocysteinemia, which increases the risk of hypertension and cardiovascular disease, and that high homocysteine levels are an independent risk factor for liver fibrosis and cirrhosis. In addition, folate deficiency results in increased secretion of pro-inflammatory factors and impaired lipid metabolism in the liver, leading to lipid accumulation in hepatocytes and fibrosis. There is substantial evidence that folate deficiency contributes to the development and progression of a variety of liver diseases, including non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), alcoholic liver disease (ALD), viral hepatitis, hepatic fibrosis, and liver cancer. Here we review key studies on the role of folate in the pathophysiology of liver diseases, summarize the current status of studies on folate in the treatment of liver diseases, and speculate that folate may be a potential therapeutic target for liver diseases.
Topics: Humans; Folic Acid; Folic Acid Deficiency; Liver Diseases; Non-alcoholic Fatty Liver Disease; Liver Cirrhosis; Liver; Animals; Liver Neoplasms; Hyperhomocysteinemia; Homocysteine; Lipid Metabolism
PubMed: 38931227
DOI: 10.3390/nu16121872 -
Clinical Nutrition ESPEN Jun 2024Folate is crucial for the development of the fetal neurological system. Moroccan Health authorities promote Folic acid (FA) supplementation, before and during pregnancy,...
BACKGROUND & AIMS
Folate is crucial for the development of the fetal neurological system. Moroccan Health authorities promote Folic acid (FA) supplementation, before and during pregnancy, as a significant protection against fetal neural tube defects (NTDs). Thus, the current study aims to investigate the effect of FA supplementation guidelines on NTDs prevalence and to assess the health professionals' (HPs) knowledge, attitude, and practice (KAP) regarding FA supplementation in Morocco.
METHODS
To assess the prevalence of NTDs, epidemiological data were collected from local and regional medical facilities and enhanced through a literature study. In addition, an auto-administered questionnaire was implemented to evaluate KAP among HPs on the FA supplementation national program.
RESULTS
The study results showed that from 2017 to 2023, the national prevalence rate of NTDs ranged from 4.26 to 21 per 10,000 live births, according to the region. Lack of information about FA supplementation is evident among HPs; while, 13.7% of the participants confused FA with vitamin B12; merely 50% recognized the significance of FA; and 11.9% had no idea which foods contained the most folate. Consequently, HPs' attitude and practice towards FA supplementation were deemed inadequate. Additionally, only 35.8% of respondents stated that they occasionally inquire about their patients' nutrition, 55.9% do not prescribe FA, and 44.1% are unwilling to report cases of NTDs.
CONCLUSION
NTDs remain a serious public health problem in Morocco. Despite the significant incidence of these diseases, HPs' knowledge, attitudes and practices in terms of prevention present gaps and inadequacies. According to the results of this study, the preparation of specific training sessions and the start of preconception consultations constitute an urgent and important issue.
PubMed: 38923466
DOI: 10.1016/j.clnesp.2024.06.006 -
Birth Defects Research Jun 2024On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and...
World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects-A case study of global partnerships for a successful resolution adoption.
BACKGROUND
On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, "Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification." The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030.
METHODS
This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations.
RESULTS
WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership.
CONCLUSION
The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.
Topics: Humans; Neural Tube Defects; Micronutrients; Global Health; Food, Fortified; Folic Acid; World Health Organization; International Cooperation
PubMed: 38923368
DOI: 10.1002/bdr2.2375 -
Journal of Community Genetics Jun 2024Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this...
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother's residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.
PubMed: 38918275
DOI: 10.1007/s12687-024-00716-9 -
Acta Neurochirurgica Jun 2024
Letter to the editor of Acta Neurochirurgica: Combined surgical repair and venous sinus stenting for patients with skull base encephaloceles secondary to dural venous sinus stenosis.
Topics: Humans; Stents; Cranial Sinuses; Encephalocele; Constriction, Pathologic; Skull Base
PubMed: 38916606
DOI: 10.1007/s00701-024-06140-9 -
Neurosurgical Review Jun 2024After myelomeningocele (MMC) repair, a secondary tethered spinal cord occurs in almost all patients. The tethered spinal cord may result in progressive neurological...
After myelomeningocele (MMC) repair, a secondary tethered spinal cord occurs in almost all patients. The tethered spinal cord may result in progressive neurological deterioration and walking disability. This retrospective cohort study aimed to highlight the walking recovery one year after tethered cord release and its relation to the preoperative conus level. We reviewed the medical records at our university hospital from January 2014 to December 2022. The patients who underwent spinal cord untethering following lumbosacral MMC repair were included. We assessed the walking recovery one year after cord release using the modified Benzel scale. Thirty-seven patients met our selection criteria. There were 19 girls (51.4%) and 18 boys (48.6%). Their mean age at presentation was 8.6 years. The preoperative conus vertebral levels ranged between L4 and S3. One year after spinal cord release, 37.8% of the patients regained their walking ability. All the patients whose preoperative conus level was at S2 or S3 regained their walking ability. In contrast, all the patients with preoperative conus levels at L4 or L5 didn't regain their ability to walk. One-third (33.3%) of patients whose conus was at the S1 level regained their walking ability one year after cord release. One year after tethered cord release, 37.8% of the patients regained their walking ability. We found that the walking recovery was statistically associated with the preoperative conus level. A multicenter prospective study is required to support the results of this study.
Topics: Humans; Male; Female; Walking; Child; Recovery of Function; Retrospective Studies; Neural Tube Defects; Child, Preschool; Adolescent; Meningomyelocele; Treatment Outcome; Neurosurgical Procedures
PubMed: 38914693
DOI: 10.1007/s10143-024-02497-8 -
Toxicology and Applied Pharmacology Jun 2024Aripiprazole (ARI) is a recently developed antipsychotic medication that belongs to the second generation of antipsychotics. The literature has contradictory information...
INTRODUCTION
Aripiprazole (ARI) is a recently developed antipsychotic medication that belongs to the second generation of antipsychotics. The literature has contradictory information regarding ARI, which has been classified as pregnant use category C by the FDA.
METHODS
125 pathogen-free fertilized eggs were incubated for 28 h and divided into five groups of 25 eggs each (including the control group), and 18 eggs with intact integrity were selected from each group. After the experimental groups were divided, ARI was administered subblastodermally with a Hamilton micro-injector at 4 different doses (1 mg/kg, 5 mg/kg, 10 mg/kg, 20 mg/kg). At the 48th hour of incubation, all eggs were hatched and embryos were removed from the embryonic membranes. And then morphologic (position of the neural tube (open or closed), crown-rump length, number of somites, embryological development status), histopathologic (apoptosis (caspase 3), cell proliferation (PCNA), in situ recognition of DNA breaks (tunnel)), genetic (BRE gene expression) analyzes were performed.
RESULTS
According to the results of the morphological analysis, when the frequency of neural tube patency was evaluated among the experimental groups, a statistically significant difference was determined between the control group and all groups (p < 0.001). In addition, the mean crown-rump length and somite number of the embryos decreased in a dose-dependent manner compared to the control group. It was determined that mRNA levels of the BRE gene decreased in embryos exposed to ARI compared to the control group (p < 0.001).
CONCLUSION
Morphologically, histopathologically, and genetically, aripiprazole exposure delayed neurogenesis and development in early chick embryos. These findings suggest its use in pregnant women may be teratogenic. We note that these results are preliminary for pregnant women, but they should be expanded and studied with additional and other samples.
PubMed: 38906509
DOI: 10.1016/j.taap.2024.117009 -
The New England Journal of Medicine Jun 2024
Review
Topics: Humans; Arnold-Chiari Malformation; Female; Magnetic Resonance Imaging
PubMed: 38899696
DOI: 10.1056/NEJMra2308055