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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(3): 582-585, 2020 Jun 18.
Artigo em Chinês | MEDLINE | ID: mdl-32541996

RESUMO

OBJECTIVE: To summarize the characteristics of sacral cysts containing fila terminale and to explore the surgical treatment methods. METHODS: The clinical features, imaging characteristics and surgical methods of 21 cases of sacral cysts containing fila terminale from July 2010 to March 2017 were reviewed and analyzed. Lumbosacral and perineal pain, weakness of the lower limbs and bladder and bowel dysfunction were the common clinical symptoms. MRI showed that the cysts located in the sacral canal. The lower T1 and higher T2 signals were found on MRI. There were fila terminale within the cysts which tethered the spinal cord. No enhancement was visible within the lesion. The key steps of operation included the resection of the cyst wall, the cutting off of the fila terminale, the release of the tethered cord and the reconstruction of the cisterna terminalis. RESULTS: The total and subtotal resections of cyst walls were achieved in 14 and 7 cases, respectively. The fila terminales were separated and cut off in all the cases, and the tethered cords were released completely. The reconstructions of the cisterna terminalis were accomplished in all the cases. There was no new-onset dysfunction except for 7 cases of mild numbness around anus postoperatively. Pathological examinations confirmed that the cyst wall was fibrous connective tissue, and hyperplasia of fibrous tissue and/or adipose tissue was found within the thickened fila terminale. The lumbosacral and perineal pain disappeared. The weakness of the lower extremities and the bladder and bowel dysfunction gradually improved. The period of follow-up ranged from 3 months to 7 years (average: 2.25 years). The spinal function of all the patients restored to McCormick grade Ⅰ. Only 1 case encountered recurrence of cyst. CONCLUSION: The sacral cysts containing fila terminale are rare. The common symptoms include lumbosacral and perineal pain and symptoms of tethered cord. MRI is helpful to the diagnosis, which shows the signal of cerebrospinal fluid and the fila terminale in the cyst as well as tlow-placed conus medullaris. Microsurgery should remove the cyst wall, cut off the fila terminale, release the tethered cord and reconstruct the cisterna terminalis.


Assuntos
Cauda Equina , Cistos , Humanos , Imagem por Ressonância Magnética , Recidiva Local de Neoplasia , Defeitos do Tubo Neural , Medula Espinal
2.
Aust Vet J ; 98(7): 312-318, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32319083

RESUMO

BACKGROUND: Here, we report on the occurrence of neural tube defects (NTDs) in four related Shetland sheepdog puppies. NTDs present as a range of congenital malformations affecting the spine, skull and associated structures. Despite the severity of these malformations and their relatively high prevalence in humans, the aetiology is not well understood. It is even less well characterised in veterinary medicine. CASE REPORT: Affected puppies were investigated using computed tomography (CT) and then necropsy. CT identified a range of brain and spine abnormalities in the affected animals, including caudal anencephaly, encephalocele, spina bifida and malformed vertebrae. Other observed abnormalities in these puppies, including cranioschisis, atresia ani and hydrocephalus, may be secondary to, or associated with, the primary NTDs identified. CONCLUSION: This case report describes multiple related cases of NTDs in an Australian cohort of dogs. This study also highlights the potential of advanced imaging techniques in identifying congenital anomalies in stillborn and neonatal puppies. Further research is required to investigate the aetiology of NTDs in this group of affected Shetland sheepdogs.


Assuntos
Anencefalia/veterinária , Doenças do Cão , Defeitos do Tubo Neural/veterinária , Disrafismo Espinal/veterinária , Animais , Austrália , Cães , Feminino , Humanos , Gravidez , Tomografia Computadorizada por Raios X
3.
Adv Exp Med Biol ; 1236: 39-64, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32304068

RESUMO

During embryonic development, the central nervous system forms as the neural plate and then rolls into a tube in a complex morphogenetic process known as neurulation. Neural tube defects (NTDs) occur when neurulation fails and are among the most common structural birth defects in humans. The frequency of NTDs varies greatly anywhere from 0.5 to 10 in 1000 live births, depending on the genetic background of the population, as well as a variety of environmental factors. The prognosis varies depending on the size and placement of the lesion and ranges from death to severe or moderate disability, and some NTDs are asymptomatic. This chapter reviews how mouse models have contributed to the elucidation of the genetic, molecular, and cellular basis of neural tube closure, as well as to our understanding of the causes and prevention of this devastating birth defect.


Assuntos
Modelos Animais de Doenças , Placa Neural/embriologia , Defeitos do Tubo Neural , Animais , Sistema Nervoso Central/embriologia , Humanos , Camundongos , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Defeitos do Tubo Neural/patologia , Defeitos do Tubo Neural/prevenção & controle , Neurulação
4.
Georgian Med News ; (298): 61-66, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32141851

RESUMO

Until 2015, systematic statistical data on micronutrient deficiency was not available in Georgia, to provide developing national strategy. In the same year, the National Centre for Disease Control and Public Health of Georgia (NCDC) in collaboration with the USA CDC launched the project "Strengthening surveillance of micronutrient deficiency in Georgia". In 2015 we did choose sentinel surveillance approach. For setting nutrition surveillance system 8 sentinel sites (2 sites in each region/children and pregnant health facilities) in four regions of Georgia (Tbilisi, Kakheti, Achara, and Samegrelo) were selected, using the criteria of geographical, social, ethnical, urban/rural, and religion. Also, existing information about malnutrition and dietary habits from the above mentioned regions. The project protocols was approved by the Institutional review board (IRB) at the NCDC and by the Research Review Committee and Ethical review committee of the US CDC. As a result of surveillance system functioning (2016-2019) we reviled that, about 36% out of 1021 studied children U2 (12-23 months) were anemic, 74% of them were identified as iron deficient. Hemoglobin was tested among 963 pregnant women and about 21% of them were found anemic, 57% were iron deficient, and 28% tested positive for folate deficiency. Neural tube defects (NTDs) prevalence per 1000 live births registered in sentinel sites was high 3.7. Our results show that anemia and iron deficiency are prevalent among both pregnant women and children of the specified age group in Georgia. Additionally, folate deficiency was quite common during the1st trimester of pregnancy. Our findings will inform public health policy decision makers to take relevant decisions on required interventions, such as health education, distribution of relevant supplements, and food fortification.


Assuntos
Micronutrientes/deficiência , Defeitos do Tubo Neural/epidemiologia , Anemia Ferropriva/epidemiologia , Criança , Feminino , Deficiência de Ácido Fólico/epidemiologia , Alimentos Fortificados , República da Geórgia/epidemiologia , Humanos , Defeitos do Tubo Neural/sangue , Gravidez , Prevalência
5.
World Neurosurg ; 138: 163-168, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32156596

RESUMO

BACKGROUND: Posttraumatic syringomyelia is a significant source of disability following spinal cord injury (SCI). Despite this, its etiology and optimal treatment remain controversial. Early identification of and intervention at a presyrinx state may halt progression. Here, we present a unique case illustrating the continuum between presyrinx and syrinx in an adult following severe distraction cervical SCI and traumatic brain injury, resulting in both tethered spinal cord and posttraumatic hydrocephalus and subsequent isolated fourth ventricle. The interplay between these etiologic factors and their therapeutic implications are discussed. CASE DESCRIPTION: A 48-year-old female developed rapidly progressive cervical spinal cord edema and hydromyelia almost 6 months after severe SCI and traumatic brain injury, with an initial Glasgow Coma Scale score of 3. Imaging demonstrated both ventral tethering of her cord at the site of injury (C5/6), as well as a trapped fourth ventricle following lateral ventricular shunting for posttraumatic hydrocephalus, with diminished flow of cerebrospinal fluid at the craniocervical junction. Additional shunting of the fourth ventricle led to significant clinical improvement and dramatic radiologic regression of her cord abnormality. CONCLUSIONS: Cognizance of the possible presence of multiple etiologic contributors to posttraumatic syringomyelia and an intricate understanding of their interplay are crucial to the optimal management of this complex pathology.


Assuntos
Hidrocefalia/complicações , Defeitos do Tubo Neural/complicações , Traumatismos da Medula Espinal/complicações , Siringomielia/etiologia , Lesões Encefálicas Traumáticas/complicações , Feminino , Quarto Ventrículo/patologia , Quarto Ventrículo/cirurgia , Humanos , Hidrocefalia/cirurgia , Pessoa de Meia-Idade , Derivação Ventriculoperitoneal
7.
World Neurosurg ; 137: 367-371, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32084619

RESUMO

BACKGROUND: The distal extent of the spinal cord is most often at the level of the L1 or L2 vertebral body. In rare cases, a low-lying cord extends more distally. In this scenario, pathology that normally causes radiculopathy may cause myelopathy due to compression of the cord rather than nerve roots of the cauda equina. CASE DESCRIPTION: A 40-year-old man presented with progressive leg pain, sensory changes, hyperreflexia, and gait disturbance 1 month after a fall. The patient was myelopathic and had central L1/2 and L2/3 disk herniations. After unsuccessful unilateral laminotomy bilateral decompression, it was decided that an endoscopic diskectomy would be the best technique to remove the disk herniation without trauma to the cord or destabilizing the spine to require fusion. A percutaneous endoscopic lumbar diskectomy at L1/2 was performed under local anesthesia. The patient's leg pain, sensory changes, hyperreflexia, and gait disturbance resolved after surgery, and he was doing well at 6 months' follow-up. CONCLUSIONS: In patients with spina bifida occulta who present with myelopathy, lumbar disk herniation should be considered if the patient has a low-lying cord. This is the first report of percutaneous endoscopic lumbar diskectomy for lumbar disk herniation in the presence of a low-lying spinal cord. We have demonstrated that this approach can treat this condition effectively and safely.


Assuntos
Discotomia/métodos , Deslocamento do Disco Intervertebral/cirurgia , Vértebras Lombares , Espinha Bífida Oculta/complicações , Compressão da Medula Espinal/cirurgia , Adulto , Descompressão Cirúrgica/métodos , Progressão da Doença , Humanos , Deslocamento do Disco Intervertebral/complicações , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Laminectomia/métodos , Imagem por Ressonância Magnética , Masculino , Defeitos do Tubo Neural/complicações , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/etiologia
8.
MMWR Morb Mortal Wkly Rep ; 69(1): 1-5, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-31917782

RESUMO

In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services† (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.§ Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy.


Assuntos
Infecções por HIV/diagnóstico , Defeitos do Tubo Neural/epidemiologia , Complicações Infecciosas na Gravidez/diagnóstico , Adolescente , Adulto , Antirretrovirais/efeitos adversos , Antirretrovirais/uso terapêutico , Feminino , Infecções por HIV/tratamento farmacológico , Humanos , Recém-Nascido , Gravidez , Complicações Infecciosas na Gravidez/tratamento farmacológico , Estados Unidos/epidemiologia , Adulto Jovem
9.
World Neurosurg ; 136: e601-e607, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31981783

RESUMO

BACKGROUND: Split cord malformation (SCM) is a rare anomaly characterized by a split along the midline of the cord, which divides it into 2 symmetric or nonsymmetric entities. SCM surgical indications and outcomes are still debatable, the signs and symptoms are generally nonspecific and are commonly associated with other anomalies and deficits. METHODS: We retrospectively searched the hospital database at King Abdulaziz Medical City, Riyadh, Saudi Arabia for patients with SCM between 1998 and 2018. Descriptive statistics were used to present categorical data as percentages and frequencies. RESULTS: A total of 25 patients were included in this series. The mean age of patients at the time of diagnosis was 4.4 years. A total of 18 patients (72%) underwent surgical correction. The mean difference between the age at diagnosis and the age at correction was 7 months. All patients underwent intraoperative neurophysiologic monitoring. Postoperative complications were minimal. Cerebrospinal fluid leakage was noted in 2 patients, transient urinary retention was noted in 1 patient, and transient unilateral leg paresis was noted in 1 patient. Most patients (n = 15, 83%), were discharged within 19 days after surgery, and 81% showed improvement postoperatively. Over the long-term follow-up, none of the patients developed new urologic or neurologic deficits. CONCLUSIONS: Most patients with SCM present during childhood. Postoperative complications after SCM corrective surgery are generally minimal, and the overall outcomes, mainly including partial or complete symptomatic improvement and/or symptom stability and hydronephrosis resolution, were favorable.


Assuntos
Medula Espinal/anormalidades , Pré-Escolar , Feminino , Humanos , Masculino , Defeitos do Tubo Neural/cirurgia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Medula Espinal/cirurgia , Disrafismo Espinal/cirurgia , Resultado do Tratamento
10.
World Neurosurg ; 134: e822-e825, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31715407

RESUMO

OBJECTIVE: Erythrosine (E127), a synthetic food dye containing iodine and sodium, has often been used inside packaged foods and beverages in Turkey and many other countries. We evaluated the effects of erythrosine on neural tube development in early-stage chicken embryos. METHODS: The study included 4 groups, with a total of 80 embryos: a control group, a normal saline group, a half-dose group, and a high-dose group. After 30 hours of incubation, saline and erythrosine solution was injected under the embryonic discs. At the end of 72 hours, the embryos were excised and evaluated macroscopically and histopathologically. RESULTS: Neural tube defects were detected in the erythrosine-administered groups with statistically significant differences. In contrast, the embryos in the control and saline groups displayed normal development. CONCLUSIONS: Erythrosine increased the risk of neural tube defects in early-stage chicken embryos, even at half of the approved dose.


Assuntos
Eritrosina/farmacologia , Corantes Fluorescentes/farmacologia , Defeitos do Tubo Neural/embriologia , Tubo Neural/efeitos dos fármacos , Anormalidades Induzidas por Medicamentos/embriologia , Anormalidades Induzidas por Medicamentos/etiologia , Animais , Embrião de Galinha , Desenvolvimento Embrionário/efeitos dos fármacos , Tubo Neural/embriologia , Defeitos do Tubo Neural/induzido quimicamente
11.
World Neurosurg ; 135: 130, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31838235

RESUMO

Iatrogenic lumbar arachnoid cysts are a rare occurrence after intradural surgery.1,2 To our knowledge, there is only 1 other previous case reported in the literature contributing to a symptomatic tethered cord.3 We present a surgical video (Video 1) demonstrating the history, preoperative workup, and operative technique for exploration and fenestration of a symptomatic iatrogenic lumbar arachnoid cyst with a tethered cord. The patient is a 57-year-old female with a history of a closed neural tube defect with a lipoma that was resected over 20 years before her evaluation. She was lost to follow-up and did not retain any previous medical documentation. She complained of a 2-month history of progressive bilateral lower extremity weakness, leg pain, and worsening of chronic urinary incontinence. Imaging demonstrated a cystic lesion compressing her conus and cauda equina at the L3-4 level. The risks, benefits, and alternatives were discussed, and the patient elected to proceed with surgery. Intraoperative findings demonstrated a complex multiloculated arachnoid cyst with tethering of the conus. The cysts were dissected from the conus and fenestrated, allowing spontaneous flow of cerebrospinal fluid and conus pulsations. Biopsy of the cyst wall confirmed the diagnosis of arachnoid cyst without neoplastic tissue. Due to the presence of multiple loculations, primary pial closure could not be performed. Thus, a circumferential detethering of the conus was performed to ensure complete decompression of the neural elements. Postoperatively, the patient demonstrated improvement in her bilateral lower extremity pain and weakness. Magnetic resonance imaging was scheduled during routine follow-up at 3 months.


Assuntos
Cistos Aracnóideos/cirurgia , Defeitos do Tubo Neural/cirurgia , Cistos Aracnóideos/etiologia , Feminino , Humanos , Doença Iatrogênica , Vértebras Lombares , Pessoa de Meia-Idade
12.
World Neurosurg ; 133: 185-187, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31606509

RESUMO

We report a rare case of bony diastematomyelia associated with intraspinal teratoma. The patient was surgically treated with bony diastematomyelia and intradural teratoma resection, followed by lumbar duroplasty, and posterior fusion from L2-L4 in order to maintain the spinal stability of the approached segments. Despite the risks, it was necessary to perform early surgical treatment because of rapid neurologic deterioration. The patient had a good postoperative outcome.


Assuntos
Vértebras Lombares/cirurgia , Defeitos do Tubo Neural/cirurgia , Neoplasias da Medula Espinal/cirurgia , Fusão Vertebral/métodos , Teratoma/cirurgia , Vértebras Torácicas/cirurgia , Adulto , Humanos , Vértebras Lombares/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/diagnóstico por imagem , Neoplasias da Medula Espinal/complicações , Neoplasias da Medula Espinal/diagnóstico por imagem , Teratoma/complicações , Teratoma/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Resultado do Tratamento
13.
World Neurosurg ; 134: 489-494, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31756499

RESUMO

BACKGROUND: Neurenteric cyst (NEC) is a rare intradural spinal tumor, but a correct preoperative diagnosis remains challenging. A misdiagnosis of arachnoid cyst (AC) often leads to conflicting surgical management and significantly higher recurrence. CASE DESCRIPTION: We report the case of a 26-year-old woman who presented with progressive spastic quadriparesis with myelopathy below the C4 level, which was caused by a ventral intradural extramedullary cystic tumor at the C3-4 level. Magnetic resonance images showed the cystic content as identical to cerebrospinal fluid, which prompted the tentative diagnosis of spinal AC. Surgical fenestration was scheduled. However, intraoperative findings of a thick-walled cyst and severe adhesion to the neural structure without a history of trauma and inflammation were more compatible with the pathogenesis of an NEC. Because of the high recurrence rate after an incomplete resection of an NEC, we did a complete resection of the cyst with adhesive rootlets instead. Pathology analysis and immunohistochemical staining confirmed the diagnosis of an endodermal-derived NEC. CONCLUSIONS: NECs must be differentiated from ACs because they are different diseases and require different surgical management. In cases with clear cystic content, however, the diagnosis is likely to be AC, but a thick cystic wall and structural adhesions should suggest the differential diagnosis of NEC. Gross total removal of NECs should be attempted to reduce NEC recurrence.


Assuntos
Cistos Aracnóideos/diagnóstico , Defeitos do Tubo Neural/diagnóstico , Doenças da Medula Espinal/diagnóstico , Cistos Aracnóideos/patologia , Cistos Aracnóideos/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Defeitos do Tubo Neural/patologia , Defeitos do Tubo Neural/cirurgia , Doenças da Medula Espinal/patologia , Doenças da Medula Espinal/cirurgia , Adulto Jovem
17.
Epigenetics Chromatin ; 12(1): 76, 2019 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-31856916

RESUMO

BACKGROUND: Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, HOX genes play a key role in neural tube closure. Although abnormal HOX gene expression can lead to NTDs, the underlying pathological mechanisms have not fully been understood. METHOD: We detected that H3K27me3 and expression of the Hox genes in a retinoic acid (RA) induced mouse NTDs model on E8.5, E9.5 and E10.5 using RNA-sequencing and chromatin immunoprecipitation sequencing assays. Furthermore, we quantified 10 Hox genes using NanoString nCounter in brain tissue of fetuses with 39 NTDs patients including anencephaly, spina bifida, hydrocephaly and encephalocele. RESULTS: Here, our results showed differential expression in 26 genes with a > 20-fold change in the level of expression, including 10 upregulated Hox genes. RT-qPCR revealed that these 10 Hox genes were all upregulated in RA-induced mouse NTDs as well as RA-treated embryonic stem cells (ESCs). Using ChIP-seq assays, we demonstrate that a decrease in H3K27me3 level upregulates the expression of Hox cluster A-D in RA-induced mouse NTDs model on E10.5. Interestingly, RA treatment led to attenuation of H3K27me3 due to cooperate between UTX and Suz12, affecting Hox gene regulation. Further analysis, in human anencephaly cases, upregulation of 10 HOX genes was observed, along with aberrant levels of H3K27me3. Notably, HOXB4, HOXC4 and HOXD1 expression was negatively correlated with H3K27me3 levels. CONCLUSION: Our results indicate that abnormal HOX gene expression induced by aberrant H3K27me3 levels may be a risk factor for NTDs and highlight the need for further analysis of genome-wide epigenetic modification in NTDs.


Assuntos
Histonas/metabolismo , Proteínas de Homeodomínio/metabolismo , Defeitos do Tubo Neural/patologia , Anencefalia/metabolismo , Anencefalia/patologia , Animais , Modelos Animais de Doenças , Células-Tronco Embrionárias/citologia , Células-Tronco Embrionárias/metabolismo , Histona Desmetilases/antagonistas & inibidores , Histona Desmetilases/metabolismo , Proteínas de Homeodomínio/genética , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Defeitos do Tubo Neural/induzido quimicamente , Complexo Repressor Polycomb 2/antagonistas & inibidores , Complexo Repressor Polycomb 2/genética , Complexo Repressor Polycomb 2/metabolismo , Interferência de RNA , RNA Interferente Pequeno/metabolismo , Tretinoína/toxicidade , Regulação para Cima/efeitos dos fármacos
18.
Curr Opin Pediatr ; 31(6): 739-746, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31693581

RESUMO

PURPOSE OF REVIEW: An update is presented regarding neural tube defects (NTDs) including spina bifida and anencephaly, which are among the most common serious birth defects world-wide. Decades of research suggest that no single factor is responsible for neurulation failure, but rather NTDs arise from a complex interplay of disrupted gene regulatory networks, environmental influences and epigenetic regulation. A comprehensive understanding of these dynamics is critical to advance NTD research and prevention. RECENT FINDINGS: Next-generation sequencing has ushered in a new era of genomic insight toward NTD pathophysiology, implicating novel gene associations with human NTD risk. Ongoing research is moving from a candidate gene approach toward genome-wide, systems-based investigations that are starting to uncover genetic and epigenetic complexities that underlie NTD manifestation. SUMMARY: Neural tube closure is critical for the formation of the human brain and spinal cord. Broader, more all-inclusive perspectives are emerging to identify the genetic determinants of human NTDs.


Assuntos
Defeitos do Tubo Neural/genética , Disrafismo Espinal/genética , Epigênese Genética , Feminino , Humanos , Mutação/genética , Gravidez
19.
BMC Surg ; 19(1): 164, 2019 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-31694612

RESUMO

BACKGROUND: Triple neural tube defects are rare. To the author's knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case. CASE PRESENTATION: We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome. CONCLUSION: In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.


Assuntos
Encefalocele/cirurgia , Meningomielocele/cirurgia , Defeitos do Tubo Neural/cirurgia , Humanos , Lactente , Masculino , Pescoço
20.
S Afr Med J ; 109(9): 698-703, 2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31635597

RESUMO

BACKGROUND: Neural tube defects (NTDs) are an important category of birth defect, but surveillance remains inadequate in South Africa. OBJECTIVES: To assess the identification of NTDs at a tertiary hospital using a range of prenatal, perinatal and postnatal data sources, and to estimate the impact of prenatal diagnosis and birth prevalence for the referral area. METHODS: Cases of anencephaly, encephalocele and spina bifida (SB) in a 6-year period were retrospectively identified from 5 data sources covering prenatal, perinatal and postnatal care. These were cross-correlated to avoid duplicate entries and to determine the contribution of different data sources. Details of prenatal diagnosis and termination of pregnancy (TOP) were obtained for 10 years, and birth prevalence over 2 years. RESULTS: During a 6-year period 195 NTDs were identified at a Western Cape Province tertiary hospital. These included 59 (30%) cases of anencephaly, 28 (14%) of encephalocele and 108 (55%) of SB. The majority of NTDs (71%) were detected prenatally, although SB was less commonly diagnosed prenatally than cranial defects (56% v. 88%; p<0.001). Of SB cases ascertained pre- or postnatally, 57% of patients were born alive and 50% discharged alive, but 72% of survivors had not been diagnosed prenatally. Women receiving prenatal diagnosis of any type of NTD before 24 weeks' gestation were nearly always offered TOP, and the majority accepted termination after non-directive counselling. For SB, later prenatal diagnosis was associated with much lower termination rates because the option was less often offered (51% v. 100%; p<0.001), and perhaps less often accepted (57% v. 78%; p=0.06). The estimated NTD birth prevalence for the referral area was 0.76 - 0.80 per 1 000 live births, but perhaps up to 1.18 per 1 000 when considering under-referral of lethal cranial lesions from rural areas. CONCLUSIONS: A substantial number of NTDs can be ascertained from a tertiary hospital environment if multiple data sources are used, even though adding data from the Perinatal Problem Identification Program for outlying health facilities increases detection of lethal defects. Hospital-based surveillance can be considered, especially for SB. Prenatal diagnosis was fairly common and pregnancy termination was often offered and accepted if detected before 24 weeks' gestation. A regional prenatal ultrasound programme, predominantly based in primary care but with ready access to a tertiary centre, can be quite effective, although limited or delayed access to prenatal diagnosis must be addressed.


Assuntos
Anencefalia/epidemiologia , Encefalocele/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Disrafismo Espinal/epidemiologia , Aborto Induzido/estatística & dados numéricos , Anencefalia/diagnóstico , Encefalocele/diagnóstico , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Defeitos do Tubo Neural/diagnóstico , Vigilância da População , Gravidez , Diagnóstico Pré-Natal/estatística & dados numéricos , Prevalência , Estudos Retrospectivos , África do Sul/epidemiologia , Disrafismo Espinal/diagnóstico , Centros de Atenção Terciária
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