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1.
Neurosurg Clin N Am ; 35(4): 411-420, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39244313

RESUMO

The G4 Alliance and its member organizations formed a delegation that participated in the 76th World Health Assembly (WHA) in 2023, which unanimously adopted the resolution to address micronutrient deficiencies through safe, effective food fortification to prevent congenital disorders such as spina bifida and anencephaly, the first neurosurgery-led resolution since the founding of the World Health Organization. The WHA included other resolutions and side events by the G4 Alliance and other organizations relevant to neurosurgery. An opportunity exists for neurosurgeons to harness the momentum from this resolution to promote initiatives to prevent neurosurgical disease or expand access to neurosurgical care.


Assuntos
Alimentos Fortificados , Saúde Global , Liderança , Defeitos do Tubo Neural , Humanos , Defeitos do Tubo Neural/prevenção & controle , Defeitos do Tubo Neural/cirurgia , Neurocirurgia , Neurocirurgiões , Participação dos Interessados , Organização Mundial da Saúde
2.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 46(4): 513-518, 2024 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-39223016

RESUMO

Objective To evaluate the changes in the incidence of neural tube defects (NTDs) in Shaanxi province from 2003 to 2022,investigate the diagnosis time and outcomes of defective infants,and predict the incidence of NTDs in Shaanxi province from 2023 to 2025,thereby providing a basis for improving the birth defects surveillance system. Methods Data were collected from all the perinatal infants from 28 weeks of gestation to 7 days after birth in all the hospitals with obstetrical department in Shaanxi province during 2003-2022.The changes in the incidence of NTDs from 2003 to 2022 were analyzed based on the birth defects surveillance system. Results A total of 1 106 483 perinatal infants in Shaanxi province from 2003 to 2022 were surveyed,among which NTDs occurred in 848 perinatal infants,with an incidence of 7.66/10 000.The incidence was the highest (48.02/10 000) in 2005 and the lowest (0.57/10 000) in 2022.The NTDs in Shaanxi province were mainly spina bifida (55.90%),which was followed by anencephaly (25.71%) and encephalocele (18.40%).The incidences of the three declined with fluctuations (P<0.001).The results of the Joinpoint analysis showed that the incidence of NTDs decreased slowly with the annual percentage change of -4.04 from 2003 to 2014 and declined rapidly with the annual percentage change of -28.05 from 2014 to 2022.From 2003 to 2022,the average proportion of prenatal diagnosis of NTDs in Shaanxi province was 72.88%.Dead fetus (61.91%) was the main birth outcome,followed by live birth (26.77%),stillbirth (8.73%),and death within seven days after birth (2.59%).The incidence of NTDs in Shaanxi province from 2023 to 2025 were predicted by the GM (1,1) model as 0.49/10 000,0.41/10 000,and 0.35/10 000,respectively. Conclusion The incidence of NTDs in Shaanxi province declined significantly during 2003-2022,especially in a rapid manner after 2014.Dead fetus was the primary outcome of perinatal infants with NTDs,followed by live birth.


Assuntos
Defeitos do Tubo Neural , Humanos , Defeitos do Tubo Neural/epidemiologia , China/epidemiologia , Recém-Nascido , Incidência , Feminino , Gravidez
4.
Clin Neurol Neurosurg ; 245: 108510, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39154537

RESUMO

BACKGROUND: Split cord malformation and tethered cord syndrome are challenging pathologies in the pediatric population. During 2016-2022, 56 cases of split cord malformation (SCM) and tethered cord syndrome were treated at the Republican Specialized Scientific Medical Practical Center of Neurosurgery (RSSMPCN) of Uzbekistan. This article aims to provide a retrospective analysis of the clinical presentation, radiological findings, and surgical outcomes of patients with split cord malformation and tethered cord syndrome. METHODS: The retrospective study was conducted for 56 pediatric patients with split cord malformation and tethered cord syndrome during the abovementioned six-year period. All patients underwent MR imaging with computed tomography, followed by surgery with intraoperative neurophysiological monitoring. Each patient underwent follow-up examinations at 3 and 6 months postoperatively and yearly thereafter. RESULTS: The mean patient age was 5.7 years (10 months to 15 years), and the male-to-female ratio was 1:2.2. Encouragingly, 44 (78.6 %) of the 56 patients showed improved neurological status postoperatively. Even in the cases where spur resection procedures were performed, there was partial neurological improvement, demonstrating the overall positive outcomes of the surgeries. Importantly, none of the 56 patients had neurological deteriorations in the postoperative period CONCLUSIONS: Split cord malformation is a rare but challenging pathology of childhood. The presentation is primarily characterized by movement, sensory or bowel disorders, and back and leg pain. This underscores the importance of early recognition and intervention when neurological symptoms are evident. Surgical intervention, as demonstrated in our study, is both appropriate and efficient in improving the neurological status of the patients.


Assuntos
Defeitos do Tubo Neural , Procedimentos Neurocirúrgicos , Humanos , Masculino , Feminino , Defeitos do Tubo Neural/cirurgia , Criança , Pré-Escolar , Adolescente , Lactente , Estudos Retrospectivos , Uzbequistão , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento , Imageamento por Ressonância Magnética
5.
Birth Defects Res ; 116(8): e2390, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-39162364

RESUMO

BACKGROUND: Folate and vitamin B12 deficiencies in pregnant women are associated with increased risk for adverse maternal and infant health outcomes, including neural tube defects (NTDs). METHODS: A population-based cross-sectional survey was conducted in two rural areas in Ambala District, Haryana, India in 2017 to assess baseline folate and vitamin B12 status among women of reproductive age (WRA) and predict the prevalence of NTDs. We calculated the prevalence of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 775 non-pregnant, non-lactating WRA (18-49 years). Using red blood cell (RBC) folate distributions and an established Bayesian model, we predicted NTD prevalence. All analyses were conducted using SAS-callable SUDAAN Version 11.0.4 to account for complex survey design. RESULTS: Among WRA, 10.1% (95% CI: 7.9, 12.7) and 9.3% (95% CI: 7.4, 11.6) had serum (<7 nmol/L) and RBC folate (<305 nmol/L) deficiency, respectively. The prevalence of RBC folate insufficiency (<748 nmol/L) was 78.3% (95% CI: 75.0, 81.3) and the predicted NTD prevalence was 21.0 (95% uncertainly interval: 16.9, 25.9) per 10,000 live births. Prevalences of vitamin B12 deficiency (<200 pg/mL) and marginal deficiency (≥200 pg/mL and ≤300 pg/mL) were 57.7% (95% CI: 53.9, 61.4) and 23.5% (95% CI: 20.4, 26.9), respectively. CONCLUSIONS: The magnitude of folate insufficiency and vitamin B12 deficiency in this Northern Indian population is a substantial public health concern. The findings from the survey help establish the baseline against which results from future post-fortification surveys can be compared.


Assuntos
Deficiência de Ácido Fólico , Ácido Fólico , Defeitos do Tubo Neural , População Rural , Deficiência de Vitamina B 12 , Vitamina B 12 , Humanos , Feminino , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Índia/epidemiologia , Adulto , Ácido Fólico/sangue , Vitamina B 12/sangue , Prevalência , Estudos Transversais , Gravidez , Deficiência de Vitamina B 12/epidemiologia , Deficiência de Ácido Fólico/epidemiologia , Deficiência de Ácido Fólico/sangue , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Teorema de Bayes
6.
Turk Neurosurg ; 34(5): 840-846, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39087291

RESUMO

AIM: To present symptoms and surgical results of patients operated on with the diagnosis of tethered cord syndrome (TCS) in adulthood. MATERIAL AND METHODS: In this retrospective study, 20 patients older than 18 years were evaluated. There were 17 female and 3 male patients. Patient demographics, clinical and surgical results were evaluated. RESULTS: The mean age was 29.9 years and the mean follow-up period was 30 months. Of the 20 patients with low back and leg pain, 16 had relief. Two were partially benefited and 2 were unchanged. In nine patients, carrying heavy loads, excessive exercise, childbirth, and walking too long before the onset of symptoms were detected. Complaint of urinary incontinance was improved only in one patient. Three of them continued with frequent urination. There was no change in two of them. There was no improvement in sensory dysfunction and sphincter dysfunction. CONCLUSION: In patients diagnosed with TCS in adulthood, symptoms may begin with physical activity, and clinical recovery is better when early surgery is performed.


Assuntos
Defeitos do Tubo Neural , Humanos , Masculino , Feminino , Adulto , Defeitos do Tubo Neural/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem , Procedimentos Neurocirúrgicos/métodos , Pessoa de Meia-Idade , Adolescente , Dor Lombar/cirurgia , Dor Lombar/etiologia , Seguimentos
7.
Turk Neurosurg ; 34(5): 827-832, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39087289

RESUMO

AIM: To evaluate tenoxicam's effects on embryonic neural tube formation to identify potential teratogenicity and determine the underlying mechanisms leading to neural tube defects (NTDs). MATERIAL AND METHODS: This study was conducted at our University's Neuro-embryology Laboratory. A total of 100 fertile chicken eggs were opened using the windowing method after 24 hours of incubation. The embryo models were divided into four groups based on tenoxicam dosage: 0.01, 0.02, 0.10 µg, and control group (0.9% SF was administered). The tenoxicam groups were administered 20 µL volume sub-blastodermally. The eggs were incubated for another 24 hours after being covered with sterile draping. All the eggs were opened at the 48th hour, and the embryos were evaluated. RESULTS: Each group consisted of 25 chicken embryos. Normal neural tube development was observed in Group 1 (0.01µg) with 23 out of 25 embryos, Group 2 (0.02 µg) with 20 out of 25 embryos, Group 3 (0.10µg) with 16 out of 25 embryos, and Group 4 (control group) with 24 out of 25 embryos. Additionally, the rates of absence of embryo development were 8%, 8%, 12%, and 4% in Groups 1, 2, and 3 and the control group, respectively. CONCLUSION: We observed that tenoxicam use caused midline closure defects in early chicken embryos in a dose-dependent manner. Further studies are required to determine the mechanisms underlying the embryonic damage and teratogenic effects due to genetic and environmental factors and minimize the development of congenital defects.


Assuntos
Defeitos do Tubo Neural , Piroxicam , Animais , Piroxicam/análogos & derivados , Embrião de Galinha , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/embriologia , Tubo Neural/efeitos dos fármacos , Tubo Neural/embriologia , Modelos Animais de Doenças , Desenvolvimento Embrionário/efeitos dos fármacos , Anti-Inflamatórios não Esteroides
8.
Health Expect ; 27(1): e13969, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-39102681

RESUMO

BACKGROUND: Children affected by tethered cord syndrome (TCS) encounter multifaceted challenges encompassing educational, familial and social spheres, underscoring the significance of a holistic comprehension of their subjective emotional well-being and life encounters. Nonetheless, healthcare professionals tend to prioritise the physical functionality of the afflicted individuals throughout the treatment and rehabilitation process, often neglecting the emotional experiences and requirements of these children as they transition into posthospitalization phases. AIM: To advance the subjective experiences and perceptions of children with TCS upon reintegration into their families, educational institutions and wider societal contexts subsequent to their discharge from medical facilities. METHODS: The study was conducted at the Children's Hospital in Zhejiang. Twelve children aged 8-15 with TCS were included in the study. The research design used an interpretative qualitative approach, utilising semi-structured interviews as the primary data collection method. Data analysis was performed using reflexive thematic analysis, facilitating a comprehensive exploration of emerging themes and patterns. RESULTS: Four major themes (and seven subthemes) were identified from the findings: (1) growing pains (a shameful secret, distance between ideal and reality); (2) inappropriate expressions of familial affection (knowing is not understanding, unspeakable guilt); (3) social estrangement (uncomfortable distinctions, familiar stranger) and (4) striving for independence and consistency. CONCLUSIONS: Children affected by TCS exhibit internal sensitivity and challenges in self-development, family dynamics and social interactions. They aspire to attain a future characterised by independence and freedom, akin to that of their typically developing peers. These findings can help health professionals, families and educators gain a deeper understanding of what it takes to be a child with TCS, and the findings can also serve as a platform for interventions that seek to promote self-expression in these children so that they can experience life as a meaningful and positive process. PATIENT OR PUBLIC CONTRIBUTION: This study received support from children with TCS and their guardians during data collection, as well as from the head nurse of the unit. Coresearchers also contributed to design, data collection, analysis and writing.


Assuntos
Defeitos do Tubo Neural , Pesquisa Qualitativa , Humanos , Feminino , Criança , Masculino , Adolescente , Defeitos do Tubo Neural/psicologia , Entrevistas como Assunto , China
9.
Environ Res ; 261: 119756, 2024 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-39117054

RESUMO

INTRODUCTION: The association between extreme ambient heat exposures during pregnancy and neural tube defects (NTDs) in offspring remains unclear. This study sought to estimate the association between exposure to extreme ambient heat during periconception and NTDs. METHODS: This population-based case-control study in Georgia, USA (1994-2017) included 825 isolated NTD cases (473 anencephaly, 352 spina bifida) and 3,300 controls matched 1:4 on county of residence and time period of delivery. Daily ambient temperature data were linked to fetal death and birth records by county of residence. Extreme ambient heat exposure was defined as the number of consecutive days the daily apparent temperature exceeded the county-specific 95th percentile (derived over 1980-2010) during an eight-week periconception period. We calculated adjusted odds ratios (aORs) and 95% confidence intervals (CI) using conditional logistic regression models adjusted for maternal age, education, and ethnicity and month and year of last menstrual period. RESULTS: The aORs for NTDs were 1.09 (95% CI 1.01, 1.17), 1.18 (95% CI 1.03, 1.36), and 1.29 (95% CI 1.04, 1.58) for exposure to 1-2, 3-5, and 6 or more consecutive days with apparent ambient temperatures exceeding the county-specific 95th percentile during periconception, respectively, compared to no days of extreme ambient heat exposure. Weekly analysis of extreme heat exposure indicated consistently elevated odds of offspring NTDs during periconception. These results were largely driven by spina bifida cases. CONCLUSIONS: Our results highlight potential health threats posed by increasing global average temperatures for pregnant people with implications for increased risk of neural tube defects in their offspring.


Assuntos
Calor Extremo , Defeitos do Tubo Neural , Humanos , Estudos de Casos e Controles , Feminino , Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/etiologia , Adulto , Gravidez , Georgia/epidemiologia , Calor Extremo/efeitos adversos , Adulto Jovem , Exposição Materna/efeitos adversos , Exposição Materna/estatística & dados numéricos
10.
Nutrients ; 16(15)2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39125384

RESUMO

The health benefits of vitamin B9 (folate) are well documented, particularly in regard to neural tube defects during pregnancy; however, much remains to be learned regarding the health effects and risks of consuming folic acid supplements and foods fortified with folic acid. In 2020, our laboratory conducted a population-based analysis of the Food Fortification Initiative (FFI) dataset to determine the strength of the evidence regarding the prevalence of neural tube defects (NTD) at the national level in response to mandatory fortification of cereal grains with folic acid. We found a very weak correlation between the prevalence of NTDs and the level of folic acid fortification irrespective of the cereal grain fortified (wheat, maize, or rice). We found a strong linear relationship between reduced NTDs and higher socioeconomic status (SES). Our paper incited a debate on the proper statistics to employ for population-level data. Subsequently, there has been a large number of erroneous citations to our original work. The objective here was to conduct a bibliometric analysis to quantitate the accuracy of citations to Murphy and Westmark's publication entitled, "Folic Acid Fortification and Neural Tube Defect Risk: Analysis of the Food Fortification Initiative Dataset". We found a 70% inaccuracy rate. These findings highlight the dire need for increased rigor in citing scientific literature, particularly in regard to biomedical research that directly impacts public health policy.


Assuntos
Bibliometria , Ácido Fólico , Alimentos Fortificados , Defeitos do Tubo Neural , Defeitos do Tubo Neural/prevenção & controle , Defeitos do Tubo Neural/epidemiologia , Ácido Fólico/administração & dosagem , Humanos , Feminino , Gravidez , Suplementos Nutricionais , Grão Comestível/química , Fatores de Risco , Prevalência
11.
Birth Defects Res ; 116(9): e2397, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39215441

RESUMO

BACKGROUND: Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs. METHODS: We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as "exposed" to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression. FINDINGS: We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings. INTERPRETATION: Evidence from the "natural experiment" of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.


Assuntos
Mudança Climática , Calor Extremo , Defeitos do Tubo Neural , Humanos , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/epidemiologia , Feminino , França/epidemiologia , Gravidez , Calor Extremo/efeitos adversos , Adulto , Fatores de Risco , Masculino , Recém-Nascido , Sistema de Registros , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Temperatura Alta/efeitos adversos
12.
BMJ Case Rep ; 17(8)2024 Aug 31.
Artigo em Inglês | MEDLINE | ID: mdl-39216887

RESUMO

The superior lumbar triangle is formed by the erector spinae muscles medially, internal oblique muscles laterally and the 12th rib superiorly. Herniation through this triangle can be congenital or acquired (primary or secondary). The contents of the hernial sac commonly include retroperitoneal fat, kidneys, ascending or descending colon, small intestines, stomach, spleen, etc. We present a case of an infant with congenital herniation of the left kidney through the superior lumbar triangle with an incidentally detected closed spinal tube defect. The anatomy of the lumbar triangle and a literature review of the associated hernia have been briefly described in this article.


Assuntos
Nefropatias , Humanos , Lactente , Nefropatias/congênito , Nefropatias/diagnóstico por imagem , Hérnia/diagnóstico por imagem , Hérnia/complicações , Hérnia/congênito , Vértebras Lombares/diagnóstico por imagem , Masculino , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Região Lombossacral/diagnóstico por imagem , Rim/anormalidades , Rim/diagnóstico por imagem , Músculos Paraespinais/diagnóstico por imagem , Músculos Paraespinais/patologia , Feminino
13.
J Ethnopharmacol ; 334: 118587, 2024 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-39025160

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: jinkui Shenqi Pill (JSP) is a classic traditional Chinese medicine used to treat "Kidney Yang Deficiency" disease. Previous studies indicate a protective effect of JSP on apoptosis in mouse neurons. AIM OF THE STUDY: This research, combining network pharmacology with in vivo experiments, explores the mechanism of JSP in preventing neural tube defects (NTDs) in mice. MATERIALS AND METHODS: Network pharmacology analyzed JSP components and targets, identifying common genes with NTDs and exploring potential pathways. Molecular docking assessed interactions between key JSP components and pathway proteins. In an all-trans retinoic acid (atRA)-induced NTDs mouse model, histopathological changes were observed using HE staining, neuronal apoptosis was detected using TUNEL, and Western Blot assessed changes in the PI3K/AKT signaling pathway and apoptosis-related proteins. RESULTS: Different concentrations of JSP led to varying degrees of reduction in the occurrence of neural tube defects in mouse embryos, with the highest dose showing the most significant decrease. Furthermore, it showed a better reduction in NTDs rates compared to folic acid (FA). Network pharmacology constructed a Drug-Active Ingredient-Gene Target network, suggesting key active ingredients such as Quercetin, Wogonin, Beta-Sitosterol, Kaempferol, and Stigmasterol, possibly acting on the PI3K/Akt signaling pathway. Molecular docking confirmed stable binding structures. Western Blot analysis demonstrated increased expression of p-PI3K, p-Akt, p-Akt1, p-Akt2, p-Akt3, downregulation of cleaved caspase-3 and Bax, and upregulation of Bcl-2, indicating prevention of NTDs through anti-apoptotic effects. CONCLUSION: We have identified an effective dosage of JSP for preventing NTDs, revealing its potential by activating the PI3K/Akt signaling pathway and inhibiting cell apoptosis in atRA-induced mouse embryonic NTDs.


Assuntos
Apoptose , Medicamentos de Ervas Chinesas , Simulação de Acoplamento Molecular , Farmacologia em Rede , Defeitos do Tubo Neural , Animais , Defeitos do Tubo Neural/prevenção & controle , Defeitos do Tubo Neural/induzido quimicamente , Medicamentos de Ervas Chinesas/farmacologia , Camundongos , Apoptose/efeitos dos fármacos , Feminino , Transdução de Sinais/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-akt/metabolismo , Fosfatidilinositol 3-Quinases/metabolismo , Tretinoína/farmacologia , Modelos Animais de Doenças , Gravidez
14.
Clin Chem ; 70(7): 948-956, 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38965696

RESUMO

BACKGROUND: Maternal serum alpha-fetoprotein (AFP) levels are used in screening for open neural tube defects (ONTD). Historical reports show that AFP levels and maternal weights are higher in self-reported Black than White individuals, but recent reports question the need to account for these variables in screening. Our study compares screening performance with and without accounting for race. METHODS: Retrospective analysis was performed on deidentified prenatal screening records including maternal weight and self-reported race of White or Black. Gestational age-specific medians and weight-adjusted multiples of the median levels were calculated separately for each group and using a race-agnostic analysis. Outcome measures included the proportion of screen-positive results. RESULTS: Records for analysis (n = 13 316) had an ultrasound confirmed gestational age between 15 and 21 completed weeks, singleton pregnancy, and self-reported race. Race was Black for 26.3%. AFP levels for pregnancies in Black individuals were higher than in White individuals: 6% to 11% depending on gestational age. Race-specific gestational age and maternal weight analyses resulted in similar screen-positive rates for self-reported White and Black individuals at 0.74% vs 1.00%, respectively (P = 0.14). However, use of race-agnostic analyses resulted in a screen-positive rate that was 2.4 times higher in Black than White individuals (P < 0.001). CONCLUSION: These data show that the historical method of accounting for maternal race and weight in prenatal screening for ONTD provides equitable performance. Using a race-agnostic methodology results in an increased screen-positive rate and a disproportionate rate of required follow-up care for individuals who self-identify as Black.


Assuntos
Defeitos do Tubo Neural , População Branca , alfa-Fetoproteínas , Humanos , Feminino , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/sangue , Gravidez , alfa-Fetoproteínas/análise , Estudos Retrospectivos , Adulto , Peso Corporal , Idade Gestacional , Diagnóstico Pré-Natal/métodos
16.
Int J Epidemiol ; 53(4)2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38981140

RESUMO

BACKGROUND: Our aim was to evaluate the prevalence, mortality, regional and sex distribution of neural tube defects (NTDs) in Finland. METHODS: Data for this population-based study were collected from 1987 to 2018 from the national health and social welfare registers. RESULTS: There were in total 1634 cases of NTDs, of which 511 were live births, 72 pregnancies ended in stillbirth and 1051 were terminations of pregnancy due to fetal anomaly (TOPFA). The total prevalence of NTDs was 8.6 per 10 000 births and it increased slightly annually (OR 1.008; 95% CI: 1.002, 1.013) during the 32-year study period. The birth prevalence of NTDs decreased (OR 0.979; 95% CI: 0.970, 0.987), but the prevalence of TOPFA increased annually (OR 1.024; 95% CI 1.017, 1.031). The perinatal mortality of NTD children was 260.7 per 1000 births and the infant mortality was 184.0 per 1000 live births, whereas these measures in the general population were 4.6 per 1000 births and 3.3 per 1000 live births, respectively. There was no difference in the NTD prevalence between males and females (P-value 0.77). The total prevalence of NTDs varied from 7.1 to 9.4 per 10 000 births in Finland by region. CONCLUSIONS: Although the majority of NTDs are preventable with an adequate folic acid supplementation, the total prevalence increased in Finland during the study period when folic acid supplementation was mainly recommended to high-risk families and to women with folic acid deficiency. NTDs remain an important cause of infant morbidity and mortality in Finland.


Assuntos
Defeitos do Tubo Neural , Sistema de Registros , Natimorto , Humanos , Finlândia/epidemiologia , Feminino , Defeitos do Tubo Neural/epidemiologia , Masculino , Prevalência , Recém-Nascido , Gravidez , Natimorto/epidemiologia , Lactente , Distribuição por Sexo , Nascido Vivo/epidemiologia , Mortalidade Infantil/tendências , Adulto , Mortalidade Perinatal/tendências
18.
Cell Biol Toxicol ; 40(1): 51, 2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-38958792

RESUMO

The implementation of Zinc oxide nanoparticles (ZnO NPs) raises concerns regarding their potential toxic effects on human health. Although more and more researches have confirmed the toxic effects of ZnO NPs, limited attention has been given to their impact on the early embryonic nervous system. This study aimed to explore the impact of exposure to ZnO NPs on early neurogenesis and explore its underlying mechanisms. We conducted experiments here to confirm the hypothesis that exposure to ZnO NPs causes neural tube defects in early embryonic development. We first used mouse and chicken embryos to confirm that ZnO NPs and the Zn2+ they release are able to penetrate the placental barrier, influence fetal growth and result in incomplete neural tube closure. Using SH-SY5Y cells, we determined that ZnO NPs-induced incomplete neural tube closure was caused by activation of various cell death modes, including ferroptosis, apoptosis and autophagy. Moreover, dissolved Zn2+ played a role in triggering widespread cell death. ZnO NPs were accumulated within mitochondria after entering cells, damaging mitochondrial function and resulting in the over production of reactive oxygen species, ultimately inducing cellular oxidative stress. The N-acetylcysteine (NAC) exhibits significant efficacy in mitigating cellular oxidative stress, thereby alleviating the cytotoxicity and neurotoxicity brought about by ZnO NPs. These findings indicated that the exposure of ZnO NPs in early embryonic development can induce cell death through oxidative stress, resulting in a reduced number of cells involved in early neural tube closure and ultimately resulting in incomplete neural tube closure during embryo development. The findings of this study could raise public awareness regarding the potential risks associated with the exposure and use of ZnO NPs in early pregnancy.


Assuntos
Desenvolvimento Embrionário , Defeitos do Tubo Neural , Tubo Neural , Estresse Oxidativo , Espécies Reativas de Oxigênio , Óxido de Zinco , Óxido de Zinco/toxicidade , Animais , Estresse Oxidativo/efeitos dos fármacos , Embrião de Galinha , Desenvolvimento Embrionário/efeitos dos fármacos , Camundongos , Tubo Neural/efeitos dos fármacos , Tubo Neural/embriologia , Tubo Neural/metabolismo , Humanos , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/metabolismo , Defeitos do Tubo Neural/embriologia , Defeitos do Tubo Neural/patologia , Espécies Reativas de Oxigênio/metabolismo , Apoptose/efeitos dos fármacos , Morte Celular/efeitos dos fármacos , Feminino , Mitocôndrias/efeitos dos fármacos , Mitocôndrias/metabolismo , Nanopartículas Metálicas/toxicidade , Autofagia/efeitos dos fármacos , Linhagem Celular Tumoral , Nanopartículas/toxicidade
19.
Clin Chim Acta ; 562: 119856, 2024 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-38977170

RESUMO

BACKGROUND AND AIMS: Neural tube defects (NTDs) occur when the neural tube fails to close within 28 days of human embryonic development. This results in central nervous system disorders like anencephaly, spina bifida, and encephalocele. Early diagnosis and treatment are crucial to minimize their impact on an individual's health and well-being. The present study aims to define the association between prenatal exposure to trace elements (Cu and Zn) and the single nucleotide polymorphism (SNP) of the MTHFR gene involved in folate metabolism pathways in neural tube defects in children and their mothers. MATERIAL AND METHODS: A cross-sectional study involving 331 participants (90 NTD cases, 88 healthy mothers, 85 NTD children, and 68 healthy children) from antenatal check-ups in Obstetrics and Gynaecology and Pediatric Surgery for Neural Tube Defects in the Outpatient Department (OPD) and Inpatient Department (IPD). Assessed Cu and Zn concentrations and their associations. Genomic DNA was extracted, and real-time PCR was used to determine genotypes. Atomic absorption spectrophotometry measured trace elements. Statistical analyses included Chi-Square tests, odds ratios, and Mann-Whitney U tests. RESULTS: Significant associations were found between MTHFR C677T genotypes and NTD risk in mothers (p = 0.0491) and children (p = 0.0297). Allelic frequency analysis indicated a T allele association with NTD risk in children (p = 0.0107). Recessive models showed significant associations in mothers (p = 0.0169) and children (p = 0.1678). Cu levels differed significantly between NTD cases and controls (p < 0.0001), with MTHFR genotypes influencing Cu levels. Zinc levels also varied significantly (p < 0.0001). CONCLUSION: This study reveals complex associations between MTHFR C677T genotypes, trace element concentrations, and NTD risk in mothers and children. This targeted approach allows healthcare providers to identify at-risk pregnancies early, enabling personalised interventions like folic acid supplementation and counselling to moderate neural tube defect (NTD) risk in a future pregnancy.


Assuntos
Cobre , Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural , Zinco , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Cobre/sangue , Zinco/sangue , Feminino , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/diagnóstico , Defeitos do Tubo Neural/sangue , Estudos Transversais , Polimorfismo de Nucleotídeo Único , Masculino , Adulto , Oligoelementos/sangue , Gravidez , Criança
20.
J Neurosurg Spine ; 41(3): 407-415, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-38848604

RESUMO

OBJECTIVE: Intraspinal cysts are uncommon, and the success rate of complete resection is still low for spinal neurenteric cysts (NCs). The aim of this study was to evaluate the efficacies of an anterior microscopic surgical approach in the treatment of ventral and ventrolateral subaxial cervical NCs (SCNCs). METHODS: Between 2019 and 2022, 9 patients with NCs of the subaxial spine underwent an anterior microsurgical approach. Their clinical presentations, radiological features, operative findings, and follow-up data were retrospectively reviewed and analyzed. RESULTS: All spinal cysts were intradural and extramedullary in origin. Five patients were first-time cases while 4 patients with recurrence underwent revision surgery. The most common clinical manifestation was pain (77.78%). One patient was found to have a concomitant disorder of Klippel-Feil syndrome. Microscopically confirmed gross-total resection was achieved in 8 patients (88.89%) based on clinical comparisons between pre- and postoperative MRI and intraoperative video. One patient had symptom recurrence 1 year after subtotal resection, while there was no evidence of recurrence during follow-up for the other patients. Dense adhesions within the spinal cord were observed in 8 patients (88.89%) intraoperatively. Most importantly, the surgical outcome was significantly improved in all patients, and the mean (± SE) Japanese Orthopaedic Association score increased from 11.33 ± 0.91 preoperatively to 16.22 ± 0.32 postoperatively (p = 0.008). CONCLUSIONS: An anterior surgical approach was proven to be both safe and effective in treating the ventral or ventrolateral SCNCs. The authors believe that an anterior microsurgical approach should be considered as a useful approach especially in patients with ventral recurrent SCNCs. Its clinical efficacy compared with a posterior approach in ventral spinal cyst may be better as most of the neurenteric cysts are ventrally or ventrolaterally located.


Assuntos
Vértebras Cervicais , Defeitos do Tubo Neural , Humanos , Feminino , Masculino , Adulto , Pessoa de Meia-Idade , Defeitos do Tubo Neural/cirurgia , Estudos Retrospectivos , Vértebras Cervicais/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Resultado do Tratamento , Procedimentos Neurocirúrgicos/métodos , Microcirurgia/métodos , Imageamento por Ressonância Magnética , Adulto Jovem , Idoso
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