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1.
JMIR Res Protoc ; 13: e52779, 2024 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-38954458

RESUMO

BACKGROUND: Obesity prevalence in youth with spina bifida is higher than in their typically developing peers. Obesity is associated with lifelong medical, psychological, and economic burdens. Successful prevention or treatment of obesity in individuals with spina bifida is compromised by (1) the lack of valid and reliable methods to identify body fat in a clinical setting and (2) limited data on energy expenditure that are necessary to provide daily caloric recommendations. OBJECTIVE: The objectives of this study will be to develop 2 algorithms for use in youth with spina bifida in a clinical setting, one to model body fat and one to predict total daily energy expenditure. In addition, physical activity and dietary intake will be described for the sample. METHODS: This multisite, prospective, national clinical study will enroll 232 youth with myelomeningocele aged 5 to 18 years (stratified by age and mobility). Participants will be enrolled for 1 week. Data obtained include 4 measures of body composition, up to 5 height measures, a ramped activity protocol, and a nutrition and physical activity screener. Participants will wear an accelerometer for the week. On the final study day, 2 samples of urine or saliva, which complete the doubly labeled water protocol, will be obtained. The analysis will include descriptive statistics, Bland-Altman plots, concordance correlation, and regression analysis. RESULTS: The study received extramural federal funding in July 2019. Data collection was initiated in March 2020. As of April 2024, a total of 143 (female participants: n=76, 53.1%; male participants: n=67, 46.9%) out of 232 participants have been enrolled. Data collection is expected to continue throughout 2024. A no-cost extension until November 2025 will be requested for data analysis and dissemination of findings. CONCLUSIONS: This study furthers previous pilot work that confirmed the acceptability and feasibility of obtaining alternate height, body composition, and energy expenditure measures. The findings from this study will enhance screening, prevention, and treatment of abnormal weight status by facilitating the accurate identification of youths' weight status category and recommendations of daily caloric needs for this population that is at higher risk of obesity. Furthermore, the findings have the potential to impact outcomes for youth diagnosed with disabilities other than spina bifida who experience similar challenges related to alterations in body composition or fat distribution or measurement challenges secondary to mobility issues or musculoskeletal problems. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/52779.


Assuntos
Composição Corporal , Metabolismo Energético , Disrafismo Espinal , Humanos , Adolescente , Criança , Disrafismo Espinal/fisiopatologia , Metabolismo Energético/fisiologia , Estudos Transversais , Composição Corporal/fisiologia , Feminino , Masculino , Pré-Escolar , Estudos Prospectivos , Exercício Físico
2.
Environ Health ; 23(1): 51, 2024 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-38831396

RESUMO

BACKGROUND: Spina bifida, a developmental malformation of the spinal cord, is associated with high rates of mortality and disability. Although folic acid-based preventive strategies have been successful in reducing rates of spina bifida, some areas continue to be at higher risk because of chemical exposures. Bangladesh has high arsenic exposures through contaminated drinking water and high rates of spina bifida. This study examines the relationships between mother's arsenic exposure, folic acid, and spina bifida risk in Bangladesh. METHODS: We conducted a hospital-based case-control study at the National Institute of Neurosciences & Hospital (NINS&H) in Dhaka, Bangladesh, between December 2016 and December 2022. Cases were infants under age one year with spina bifida and further classified by a neurosurgeon and imaging. Controls were drawn from children seen at NINS&H and nearby Dhaka Shishu Hospital. Mothers reported folic acid use during pregnancy, and we assessed folate status with serum assays. Arsenic exposure was estimated in drinking water using graphite furnace atomic absorption spectrophotometry (GF-AAS) and in toenails using inductively coupled plasma mass spectrometry (ICP-MS). We used logistic regression to examine the associations between arsenic and spina bifida. We used stratified models to examine the associations between folic acid and spina bifida at different levels of arsenic exposure. RESULTS: We evaluated data from 294 cases of spina bifida and 163 controls. We did not find a main effect of mother's arsenic exposure on spina bifida risk. However, in stratified analyses, folic acid use was associated with lower odds of spina bifida (adjusted odds ratio [OR]: 0.50, 95% confidence interval [CI]: 0.25-1.00, p = 0.05) among women with toenail arsenic concentrations below the median value of 0.46 µg/g, and no association was seen among mothers with toenail arsenic concentrations higher than 0.46 µg/g (adjusted OR: 1.09, 95% CI: 0.52-2.29, p = 0.82). CONCLUSIONS: Mother's arsenic exposure modified the protective association of folic acid with spina bifida. Increased surveillance and additional preventive strategies, such as folic acid fortification and reduction of arsenic, are needed in areas of high arsenic exposure.


Assuntos
Arsênio , Ácido Fólico , Disrafismo Espinal , Humanos , Ácido Fólico/uso terapêutico , Bangladesh/epidemiologia , Disrafismo Espinal/prevenção & controle , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/induzido quimicamente , Estudos de Casos e Controles , Feminino , Arsênio/análise , Lactente , Masculino , Adulto , Recém-Nascido , Gravidez , Poluentes Químicos da Água/análise , Exposição Materna , Adulto Jovem , Água Potável/química , Água Potável/análise
3.
Magn Reson Imaging Clin N Am ; 32(3): 431-442, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38944432

RESUMO

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.


Assuntos
Imageamento por Ressonância Magnética , Diagnóstico Pré-Natal , Coluna Vertebral , Humanos , Imageamento por Ressonância Magnética/métodos , Feminino , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/anormalidades , Coluna Vertebral/cirurgia , Gravidez , Diagnóstico Pré-Natal/métodos , Disrafismo Espinal/diagnóstico por imagem , Disrafismo Espinal/cirurgia , Ultrassonografia Pré-Natal/métodos , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/cirurgia
4.
Pediatrics ; 154(1)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38845550

RESUMO

OBJECTIVES: Urinary tract infections (UTIs) are common, but overdiagnosed, in children with spina bifida. We sought to evaluate the diagnostic test characteristics of urinalysis (UA) findings for symptomatic UTI in children with spina bifida. METHODS: Retrospective cross-sectional study using data from 2 centers from January 1, 2016, to December 31, 2021. Children with myelomeningocele aged <19 years who had paired UA (and microscopy, when available) and urine culture were included. The primary outcome was symptomatic UTI. We used generalized estimating equations to control for multiple encounters per child and calculated area under the receiver operating characteristics curve, sensitivity, and specificity for positive nitrites, pyuria (≥10 white blood cells/high-powered field), and leukocyte esterase (more than trace) for a symptomatic UTI. RESULTS: We included 974 encounters from 319 unique children, of which 120 (12.3%) met our criteria for UTI. Pyuria had the highest sensitivity while nitrites were the most specific. Comparatively, nitrites were the least sensitive and pyuria was the least specific. When the cohort was limited to children with symptoms of a UTI, pyuria remained the most sensitive parameter, whereas nitrites remained the least sensitive. Nitrites continued to be the most specific, whereas pyuria was the least specific. Among all encounters, the overall area under the receiver operating characteristics curve for all components of the UA was lower in children who use clean intermittent catheterizations compared with all others. CONCLUSIONS: Individual UA findings have moderate sensitivity (leukocyte esterase or pyuria) or specificity (nitrites) but overall poor diagnostic accuracy for symptomatic UTIs in children with spina bifida.


Assuntos
Hidrolases de Éster Carboxílico , Disrafismo Espinal , Urinálise , Infecções Urinárias , Humanos , Estudos Retrospectivos , Estudos Transversais , Infecções Urinárias/diagnóstico , Infecções Urinárias/urina , Infecções Urinárias/complicações , Urinálise/métodos , Feminino , Masculino , Criança , Disrafismo Espinal/complicações , Disrafismo Espinal/urina , Pré-Escolar , Adolescente , Lactente , Hidrolases de Éster Carboxílico/urina , Sensibilidade e Especificidade , Piúria/diagnóstico , Piúria/urina , Nitritos/urina , Meningomielocele/complicações , Meningomielocele/urina , Curva ROC
5.
Birth Defects Res ; 116(6): e2370, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38888449

RESUMO

BACKGROUND: Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification. METHODS: Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000-2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied. RESULTS: Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8-1.5 for all NTDs combined, 0.6-2.0 for spina bifida, and 0.7-1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7-1.1, 0.5-1.5, and 0.6-1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null. CONCLUSIONS: Using community- and individual-level data from a large, US, population-based, case-control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.


Assuntos
Desinfecção , Água Potável , Exposição Materna , Defeitos do Tubo Neural , Humanos , Feminino , Água Potável/efeitos adversos , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/epidemiologia , Gravidez , Exposição Materna/efeitos adversos , Exposição Materna/estatística & dados numéricos , Desinfecção/métodos , Adulto , Estudos de Casos e Controles , Desinfetantes/efeitos adversos , Desinfetantes/análise , Purificação da Água/métodos , Trialometanos/análise , Trialometanos/efeitos adversos , Masculino , Poluentes Químicos da Água/análise , Poluentes Químicos da Água/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal , Disrafismo Espinal/etiologia , Disrafismo Espinal/epidemiologia
6.
Acta Neurochir (Wien) ; 166(1): 270, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38884665

RESUMO

BACKGROUND: Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered. METHOD: We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child. CONCLUSION: Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy.


Assuntos
Vértebras Lombares , Vértebras Torácicas , Humanos , Vértebras Torácicas/cirurgia , Vértebras Torácicas/diagnóstico por imagem , Lactente , Vértebras Lombares/cirurgia , Meningomielocele/cirurgia , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento , Masculino , Disrafismo Espinal/cirurgia , Imageamento por Ressonância Magnética
8.
Comput Methods Programs Biomed ; 251: 108201, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38703719

RESUMO

BACKGROUND AND OBJECTIVE: Surgical robotics tends to develop cognitive control architectures to provide certain degree of autonomy to improve patient safety and surgery outcomes, while decreasing the required surgeons' cognitive load dedicated to low level decisions. Cognition needs workspace perception, which is an essential step towards automatic decision-making and task planning capabilities. Robust and accurate detection and tracking in minimally invasive surgery suffers from limited visibility, occlusions, anatomy deformations and camera movements. METHOD: This paper develops a robust methodology to detect and track anatomical structures in real time to be used in automatic control of robotic systems and augmented reality. The work focuses on the experimental validation in highly challenging surgery: fetoscopic repair of Open Spina Bifida. The proposed method is based on two sequential steps: first, selection of relevant points (contour) using a Convolutional Neural Network and, second, reconstruction of the anatomical shape by means of deformable geometric primitives. RESULTS: The methodology performance was validated with different scenarios. Synthetic scenario tests, designed for extreme validation conditions, demonstrate the safety margin offered by the methodology with respect to the nominal conditions during surgery. Real scenario experiments have demonstrated the validity of the method in terms of accuracy, robustness and computational efficiency. CONCLUSIONS: This paper presents a robust anatomical structure detection in present of abrupt camera movements, severe occlusions and deformations. Even though the paper focuses on a case study, Open Spina Bifida, the methodology is applicable in all anatomies which contours can be approximated by geometric primitives. The methodology is designed to provide effective inputs to cognitive robotic control and augmented reality systems that require accurate tracking of sensitive anatomies.


Assuntos
Procedimentos Cirúrgicos Robóticos , Humanos , Procedimentos Cirúrgicos Robóticos/métodos , Redes Neurais de Computação , Algoritmos , Disrafismo Espinal/cirurgia , Disrafismo Espinal/diagnóstico por imagem , Processamento de Imagem Assistida por Computador/métodos , Robótica , Realidade Aumentada
9.
Compr Child Adolesc Nurs ; 47(2): 86-97, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38713540

RESUMO

This paper focuses on an innovative approach to preparing children and young people, with Spina Bifida, to move from child-centered to adult-oriented healthcare systems. Reflecting on our role in delivering a national nurse led service, we set to identify and critique international transition tools in use for this population. Specifically, we aimed to identify the core capabilities and indicators of progression to successful transition, so that holistic interventions could be planned to match the needs of individuals and their carers. There were two phases to the study, initially focusing on a systematic literature review on transition tools and the specific items that these tools captured, including skills, abilities and behaviors. Phase two culminated in the articulation of a segmented and incremental "road map", aligned with facets deemed essential for a successful healthcare transition. The reporting of the literature review (phase one) followed the PRISMA guidelines and shaped the qualitative element of the study (phase two) through the use of semi-structured interviews and thematic analysis. The search strategy yielded 11 studies, which were then manually searched for other relevant literature, adding a further 14 articles. The review analyzed 7 specific tools for spina bifida and 8 generic tools, which were deemed appropriate for this group of patients. A comprehensive list of core capabilities was then articulated and framed to fit a progression timeline. Specific interventions were formulated to explore ways to co-produce resources that could enhance and support a planned transition to adult-focused services. Our proposed mapping of capabilities and progression could shape other transition programs, where nurses work collaboratively with young people, carers and other members of a team. More work is needed to further explore and embed the framework that, as we did, could be digitized and shared with all stakeholders involved in the transition process.


Assuntos
Disrafismo Espinal , Transição para Assistência do Adulto , Humanos , Disrafismo Espinal/psicologia , Disrafismo Espinal/terapia , Transição para Assistência do Adulto/normas , Transição para Assistência do Adulto/tendências , Adolescente , Adulto , Criança , Pesquisa Qualitativa
10.
BMJ Open ; 14(5): e083057, 2024 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-38760039

RESUMO

OBJECTIVE: To estimate the prevalence of neural tube defects among all birth outcomes in Odisha during 2016-2022. Additionally, to estimate the identification rate of neural tube defects during Pradhan Mantri Surakshit Matritva Abhiyan sessions. DESIGN: A population-based cross-sectional study with a household survey for neural tube defects using pictorial card as well as a hospital-based study for antenatal ultrasonography data. SETTING: The sample population was selected through multistage random sampling. In the first stage, one district from each zone was selected randomly. In the second stage, using simple random sampling, one community health centre and one urban primary health centre were selected from each district. In the third stage, the population from a block and ward were picked from the selected rural and urban settings, respectively. PARTICIPANTS: All married women in the reproductive age group (18-49 years) residing in these cluster villages in the selected districts were enrolled. RESULTS: The study surveyed 49 215 women and recorded 50 196 birth outcomes, including 49 174 live births, 890 stillbirths and 132 medical terminations of pregnancy. A total of 30 neural tube defect cases were detected. The overall prevalence rate of neural tube defect was 0.59 per 1000 birth outcomes. Spina bifida was the most prevalent neural tube defect with the prevalence of, followed by anencephaly and encephalocele. Despite 26 860 mothers receiving antenatal ultrasonography Pradhan Mantri Surakshit Matritva Abhiyan session, data on neural tube defects and other birth defects detected through these scans is unavailable. CONCLUSION: This study found a low prevalence of neural tube defect in Odisha, which is far lower compared with the older studies from India. There is an urgent need to strengthen the quality of antenatal care services provided under Pradhan Mantri Surakshit Matritva Abhiyan through better training regarding anomaly scans and better data keeping at public healthcare facilities. TRIAL REGISTRATION NUMBER: CTRI/2021/06/034487.


Assuntos
Defeitos do Tubo Neural , Humanos , Estudos Transversais , Feminino , Índia/epidemiologia , Gravidez , Adulto , Defeitos do Tubo Neural/epidemiologia , Prevalência , Adulto Jovem , Adolescente , Pessoa de Meia-Idade , Ultrassonografia Pré-Natal , Anencefalia/epidemiologia , Encefalocele/epidemiologia , Encefalocele/diagnóstico por imagem , Disrafismo Espinal/epidemiologia
11.
Artigo em Inglês | MEDLINE | ID: mdl-38791838

RESUMO

Spina bifida includes a spectrum of different neural tube defects. Myelomeningocele is the most serious type and is associated with a risk of paralysis and sensory dysfunction below the affected level, bladder/bowel dysfunction, brain dysmorphology, and impaired health-related quality of life (HRQoL). The aim of this study was to describe the establishment of linguistic, content and face validity of the Swedish version of a Quality-of-Life Assessment for children (QUALAS-C, n = 10 items), teenagers (QUALAS-T, n = 10 items) and adults with spina bifida (QUALAS-A, n = 15 items) based on the original US English versions. The process included close collaboration with the original instrument developer and complied with international standards on patient-reported outcome measurements. The procedure includes forward translation, expert and patient/parent review and reconciliation, back translation, back translation review and cognitive debriefing interviews with 16 people with spina bifida aged 8 to 33, providing them with the possibility of evaluating the clarity, adequacy, and comprehensiveness of QUALAS-C, QUALAS-T and QUALAS-A, respectively. The interviews lasted a median of 15 min (range 8-16) for QUALAS-C, 10 min (range 9-15) for QUALAS-T and 24 min (range 9-38) for QUALAS-A. Four main issues/topics needed attention and discussion after both the forward and back translation. Following the back translation review, all issues were resolved. The patient feedback revealed recognition of the HRQoL issues included in QUALAS, and also difficulties in understanding some questions. After the patients' evaluation, four items were reworded for clarity. No study participant reported a wish to add to or remove questions from QUALAS. Hence, the Swedish versions of QUALAS became conceptually equivalent to the original US English versions and achieved linguistic, content and face validity. While empowering the voices of people with spina bifida, these results also enable their HRQoL to be properly assessed in research and clinical care in Sweden and in international studies.


Assuntos
Qualidade de Vida , Disrafismo Espinal , Humanos , Disrafismo Espinal/psicologia , Adolescente , Suécia , Adulto , Criança , Feminino , Masculino , Adulto Jovem , Inquéritos e Questionários , Reprodutibilidade dos Testes , Linguística
12.
Science ; 384(6695): 584-590, 2024 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-38696583

RESUMO

Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele. The loss of Crkl, one of several neural tube-expressed genes within the minimal deletion interval, was sufficient to replicate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficiency. Thus, the common 22q11.2 deletion confers substantial meningomyelocele risk, which is partially alleviated by folate supplementation.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22 , Meningomielocele , Animais , Feminino , Humanos , Masculino , Camundongos , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/genética , Sequenciamento do Exoma , Ácido Fólico/administração & dosagem , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/genética , Meningomielocele/epidemiologia , Meningomielocele/genética , Penetrância , Disrafismo Espinal/genética , Risco , Proteínas Adaptadoras de Transdução de Sinal/genética
13.
Childs Nerv Syst ; 40(7): 2235-2239, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38609721

RESUMO

Mirror movements, characterized by involuntary symmetrical movements in contralateral body parts during intentional movements, have been associated with various neurological conditions. Limited dorsal myeloschisis (LDM), a rare form of spinal dysraphism, is defined by a focal closed midline defect and a fibro-neural stalk connecting the skin lesion to the underlying cord. We present a unique case of a 4-year-old girl with cervical LDM exhibiting mirror movements. The patient underwent surgical exploration, skin tag excision, fibrous tract removal, and cervical spinal cord detethering. Post-operatively, there was a partial improvement in mirror movements and a complete resolution of hand grip weakness.


Assuntos
Disrafismo Espinal , Humanos , Feminino , Pré-Escolar , Disrafismo Espinal/cirurgia , Disrafismo Espinal/complicações , Vértebras Cervicais/cirurgia , Vértebras Cervicais/diagnóstico por imagem , Medula Cervical/cirurgia , Medula Cervical/diagnóstico por imagem
14.
Disabil Health J ; 17(3): 101627, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38637232

RESUMO

BACKGROUND: Thanks to improved medical care, individuals with spina bifida (SB) live well into adulthood and go through the process of reproductive maturation and the development of sexual desires. However, access to reproductive counselling and contraceptive use has been reported to be lower for women with physical and intellectual disabilities compared to the general population. OBJECTIVE: We investigated oral contraceptive use in women with SB, residing in Sweden and how use varies based on the level of lesion and demographic factors. METHODS: This was a population-based case-control study using annual data from national registers from 2006 to 2015. The sample consisted of 7045 women aged 15-49 years, of which 1173 had a diagnosis of SB. χ2 tests and logistic regression were used to investigate the study objective. RESULTS: The rate of oral contraceptive use in women with SB was 24.6 % compared to 34.5 % among the general population. After adjusting for potential confounders women with SB were found to have a lower probability of using oral contraceptives (OR 0.63 95 % CI 0.56-0.71) compared to women without SB. Among women with SB, those with diagnoses Q05.8 (Sacral SB without hydrocephalus) and Q05.9 (SB unspecified) had a higher likelihood of using oral contraceptives compared to other Q05 diagnoses. CONCLUSION: Women with SB had a lower likelihood of being on oral contraceptives compared to the control group. Further research should investigate if the lower use indicates that oral contraceptives are not an inappropriate method of contraception for women with SB.


Assuntos
Comportamento Contraceptivo , Anticoncepcionais Orais , Pessoas com Deficiência , Disrafismo Espinal , Humanos , Feminino , Suécia/epidemiologia , Disrafismo Espinal/epidemiologia , Adulto , Adolescente , Estudos de Casos e Controles , Adulto Jovem , Pessoa de Meia-Idade , Comportamento Contraceptivo/estatística & dados numéricos , Pessoas com Deficiência/estatística & dados numéricos , Modelos Logísticos , Sistema de Registros , Anticoncepção/estatística & dados numéricos , Anticoncepção/métodos
15.
Birth Defects Res ; 116(5): e2343, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38688860

RESUMO

BACKGROUND: Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice). METHODS: We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid. Sixty-eight countries were eligible for analysis with complete data. Proportion of FAP SBA prevention was modeled assuming >150 mcg/day of folic acid fortification protects against FAP SBA, reducing post-fortification prevalence to a lowest achievable level of 0.5 cases per 1000 births. RESULTS: Our analysis found that a total of 63,520 cases of FAP SBA were prevented in the year 2022 in 68 countries implementing mandatory folic acid fortification of grains with folic acid. This translated to a 23.7% prevention of all possible FAP SBA prevention globally. An excess of 204,430 cases of FAPSBA still occurred in over 100 countries where mandatory staple food fortification with folic acid is not implemented. CONCLUSION: Our study showed that only a quarter of all FAP SBA cases were averted through mandatory folic acid fortification in the year 2022; many countries are not implementing the policy, resulting in a large proportion of FAP SBA cases that can be prevented. Fortification will help countries with achieving 2030 Sustainable Development Goals on neonatal- and under-five mortality, disability, stillbirths, and elective terminations prevention, from FAP SBA.


Assuntos
Anencefalia , Ácido Fólico , Alimentos Fortificados , Disrafismo Espinal , Humanos , Ácido Fólico/uso terapêutico , Anencefalia/prevenção & controle , Anencefalia/epidemiologia , Disrafismo Espinal/prevenção & controle , Disrafismo Espinal/epidemiologia , Feminino , Saúde Global , Prevalência , Gravidez , Farinha , Grão Comestível
16.
Fetal Pediatr Pathol ; 43(3): 225-233, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38634787

RESUMO

Background: Myelomeningocele or spina bifida is an open neural tube defect that is characterized by protrusion of the meninges and the spinal cord through a deformity in the vertebral arch and spinous process. Myelomeningocele of post-natal tissue is well described; however, pre-natal tissue of this defect has no known previous histologic characterization. We compared the histology of different forms of pre-natal myelomeningocele and post-natal myelomeningocele tissue obtained via prenatal intrauterine and postnatal surgical repairs. Methods: Pre-and post-natal tissues from spina bifida repair surgeries were obtained from lipomyelomeningocele, myeloschisis, and myelomeningocele spina bifida defects. Tissue samples were processed for H&E and immunohistochemical staining (KRT14 and p63) to assess epidermal and dermal development. Results: Prenatal skin near the defect site develops with normal epidermal, dermal, and adnexal structures. Within the grossly cystic specimens, histology shows highly dense fibrous connective tissue with complete absence of a normal epidermal development with a lack of p63 and KRT14 expression. Conclusion: Tissues harvested from prenatal and postnatal spina bifida repair surgeries appear as normal skin near the defect site. However, cystic tissues consist of highly dense fibrous connective tissue with complete absence of normal epidermal development.


Assuntos
Imuno-Histoquímica , Meningomielocele , Disrafismo Espinal , Humanos , Disrafismo Espinal/patologia , Disrafismo Espinal/cirurgia , Feminino , Imuno-Histoquímica/métodos , Meningomielocele/cirurgia , Meningomielocele/patologia , Meningomielocele/metabolismo , Gravidez , Recém-Nascido
17.
Int Orthop ; 48(6): 1589-1598, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38581468

RESUMO

PURPOSE: Early recognition is crucial for occult spinal dysraphism associated with congenital spinal deformities. There is limited literature available on its occurrence in congenital scoliosis and kyphosis in the Indian population. METHODS: Our study involved a retrospective review of 247 children who presented at a single centre. We analyzed their demographics and clinical and radiological findings, which included the type of deformity, its location, vertebral anomaly, Cobb angle, and MRI findings. The deformities were categorized as congenital scoliosis or congenital kyphosis with failure of formation, failure of segmentation, or both. RESULTS: A total of 247 cases were examined (congenital scoliosis-229, congenital kyphosis-18). The average age was seven years (range 0.8 to 19 years, SD 4.6). The mean Cobb angle at presentation in the congenital scoliosis group was 49.4° (range 8 to 145°, SD 23.77) for those with abnormal MRI and 42.45° (range 5 to 97°, SD 20.09) for those with normal MRI. For the congenital kyphosis group, the mean K angle at presentation was 47.7° (range 14 to 110°, SD 33.33) for those with abnormal MRI and 47.36° (range 15 to 70°, SD 16.63) for those with normal MRI. Abnormal MRI results were observed in 130 of the patients (congenital scoliosis-53.7%, congenital kyphosis-38.8%). The highest incidence of abnormal MRI findings was observed in the failure of segmentation (66.6%) and mixed (65%) types. Deformities in the dorsal region had the highest incidence (61.9%). The most common dysraphism instances were diastematomyelia and tethered cord. There was a significant correlation between type of deformity and presence of dysraphism. CONCLUSION: This is the largest case series of congenital scoliosis and kyphosis reported from India. We found a high incidence of occult spinal dysraphism as compared to other published series. Occult spinal dysraphism is more common in the thoracic region. Diastematomyelia followed by tethered cord was the most common anomaly observed. We recommend MRI screening of whole spine and craniovertebral junction.


Assuntos
Cifose , Imageamento por Ressonância Magnética , Escoliose , Disrafismo Espinal , Humanos , Estudos Retrospectivos , Escoliose/epidemiologia , Escoliose/congênito , Escoliose/diagnóstico por imagem , Escoliose/complicações , Cifose/epidemiologia , Cifose/diagnóstico por imagem , Adolescente , Criança , Índia/epidemiologia , Feminino , Masculino , Pré-Escolar , Lactente , Disrafismo Espinal/complicações , Disrafismo Espinal/epidemiologia , Disrafismo Espinal/diagnóstico por imagem , Adulto Jovem , Coluna Vertebral/anormalidades , Coluna Vertebral/diagnóstico por imagem
18.
Urol Clin North Am ; 51(2): 187-196, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38609191

RESUMO

The health care needs children with spina bifida evolve over their lifetime; continued, regular contact with appropraitely trained, multidisciplinary providers is crucial to a patient's health and quality of life. Substantial research has been conducted to improve the transition process starting at an early age; however, there continue to be strong barriers to successful transition. This article reviews key aspects of the care of patients with spina bifida, the impact of inadequate transition to adult care, barriers to transition, and offers a potential vision for the future.


Assuntos
Disrafismo Espinal , Cuidado Transicional , Adulto , Criança , Humanos , Qualidade de Vida , Disrafismo Espinal/terapia
19.
Dev Neurorehabil ; 27(1-2): 1-7, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38630613

RESUMO

This study explored the acceptability of Children and Teens in Charge of their Health (CATCH), a program for children with spina bifida or cerebral palsy to enhance their physical activity and diet. Qualitative interviews were conducted with children (n = 6) and their parents (n = 6) who participated in CATCH. Analysis used an environmental systems framework. Microsystem factors impacting acceptability of the program were: Children's motivations for change, their age, and their physical health. Mesosystem factors were: Use of virtual coaching and the relationship between coach and child. Macrosystem factors (e.g. Covid-19), did not impact acceptability, but affected some goal attainment strategies. CATCH was broadly acceptable to children and parents and shows promise as a health promotion program tailored to children with disabilities. An environmental systems framework can potentially help other health promotion programs enhance their acceptability and success.


Assuntos
Paralisia Cerebral , Promoção da Saúde , Disrafismo Espinal , Humanos , Promoção da Saúde/métodos , Adolescente , Masculino , Disrafismo Espinal/reabilitação , Feminino , Criança , Paralisia Cerebral/reabilitação , Exercício Físico , Crianças com Deficiência/reabilitação , COVID-19/prevenção & controle , Pais/psicologia , Aceitação pelo Paciente de Cuidados de Saúde , Pesquisa Qualitativa
20.
Pediatr Surg Int ; 40(1): 114, 2024 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-38683501

RESUMO

INTRODUCTION: Spinal dysraphism is the most frequent cause of neurogenic bladder. Urodynamic study (UDS) is an important component of the follow-up of a child with neurogenic bladder. However, it suffers from a lack of widespread availability and is further hampered by technical difficulties and difficulty in its interpretation in children. A neurogenic bladder often appears vertically elongated; only limited and sparse literature is available regarding objectively defining the bladder shape and the urodynamic parameters in the cohort. OBJECTIVES: This study aimed to investigate the usefulness of the bladder's height-to-width ratio (HWR) on cystogram as a screening tool for identifying "non-physiological" bladder pressures in children with spinal dysraphism. A prospective study was undertaken to evaluate children operated for spinal dysraphism. Cystogram, ultrasonography and UDS evaluation were performed. HWR was calculated by the ratio of the maximum height to the maximum bladder width at maximum cystometric capacity (MCC), where MCC was calculated using standard Koff's formula, given by (age in years + 2) *30 ml in children more than one year and weight *7 ml for infants. The children were categorised into groups based on maximum detrusor pressure (MDP) into two groups (MDP ≥ 30 cmH2O and MDP < 30 cmH2O). A receiver-operative characteristic curve was constructed to analyse the sensitivity and specificity of HWR in predicting the MDP. RESULTS: A total of 53 children, operated for spinal dysraphism, met the study criteria during the study period, from March 2021 to September 2022. The median age of children was 4 years (IQR-3-5.5 years). The HWR ratio was compared between the two groups and was significantly higher for the non-physiological pressure bladders than for physiological pressure bladders (mean of 1.55 vs 1.26, p = 0.001). On evaluating the sensitivity and specificity of HWR for discerning children with non-physiological bladder pressures were 87.5% and 48.28%, respectively. The area under the curve (AUC) was 0.781, with a cut-off value of 1.3. DISCUSSION: We attempted to evaluate the HWR based on bladder shape objectively. We demonstrated a moderate correlation between the bladder shape and the bladder pressures. An HWR of 1.3 or higher could be significant for identifying a non-physiological bladder storage pressure. CONCLUSION: The height to width ratio of the bladder on cystogram is a useful tool as a surrogate marker for non-physiological storage pressures in bladders of children with spinal dysraphism.


Assuntos
Disrafismo Espinal , Bexiga Urinaria Neurogênica , Bexiga Urinária , Urodinâmica , Humanos , Estudos Prospectivos , Bexiga Urinária/fisiopatologia , Bexiga Urinária/diagnóstico por imagem , Feminino , Pré-Escolar , Masculino , Urodinâmica/fisiologia , Disrafismo Espinal/fisiopatologia , Disrafismo Espinal/complicações , Disrafismo Espinal/diagnóstico por imagem , Criança , Bexiga Urinaria Neurogênica/fisiopatologia , Bexiga Urinaria Neurogênica/etiologia , Lactente , Cistografia/métodos , Ultrassonografia/métodos , Pressão
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