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1.
Cells ; 12(13)2023 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-37443734

RESUMO

Neural tube defects (NTDs), including anencephaly and spina bifida, are common major malformations of fetal development resulting from incomplete closure of the neural tube. These conditions lead to either universal death (anencephaly) or severe lifelong complications (spina bifida). Despite hundreds of genetic mouse models of neural tube defect phenotypes, the genetics of human NTDs are poorly understood. Furthermore, pharmaceuticals, such as antiseizure medications, have been found clinically to increase the risk of NTDs when administered during pregnancy. Therefore, a model that recapitulates human neurodevelopment would be of immense benefit to understand the genetics underlying NTDs and identify teratogenic mechanisms. Using our self-organizing single rosette cortical organoid (SOSR-COs) system, we have developed a high-throughput image analysis pipeline for evaluating the SOSR-CO structure for NTD-like phenotypes. Similar to small molecule inhibition of apical constriction, the antiseizure medication valproic acid (VPA), a known cause of NTDs, increases the apical lumen size and apical cell surface area in a dose-responsive manner. GSK3ß and HDAC inhibitors caused similar lumen expansion; however, RNA sequencing suggests VPA does not inhibit GSK3ß at these concentrations. The knockout of SHROOM3, a well-known NTD-related gene, also caused expansion of the lumen, as well as reduced f-actin polarization. The increased lumen sizes were caused by reduced cell apical constriction, suggesting that impingement of this process is a shared mechanism for VPA treatment and SHROOM3-KO, two well-known causes of NTDs. Our system allows the rapid identification of NTD-like phenotypes for both compounds and genetic variants and should prove useful for understanding specific NTD mechanisms and predicting drug teratogenicity.


Assuntos
Anencefalia , Defeitos do Tubo Neural , Disrafismo Espinal , Gravidez , Feminino , Humanos , Camundongos , Animais , Ácido Valproico/farmacologia , Anencefalia/complicações , Anencefalia/genética , Glicogênio Sintase Quinase 3 beta/genética , Camundongos Knockout , Defeitos do Tubo Neural/induzido quimicamente , Defeitos do Tubo Neural/genética , Disrafismo Espinal/genética , Encéfalo/patologia , Proteínas dos Microfilamentos
2.
Rev Med Inst Mex Seguro Soc ; 60(1): 80-84, 2022 Feb 01.
Artigo em Espanhol | MEDLINE | ID: mdl-35274915

RESUMO

Background: Neural tube defects are a heterogeneous group of alterations of the central nervous system with multifactorial origin, mainly caused by a failure in the mechanisms of closure of the neural tube which involves skin, paravertebral muscles, connective tissue, bone and spinal cord. Clinical case: 36-year-old woman with a pregnancy of 25.3 weeks, corroborated by second trimester ultrasound. She had a previous pregnancy with anencephaly and a poor prenatal care in the actual pregnancy. An obstetric ultrasound was performed with the diagnosis of craniorachischisis, which is why the delivery was performed by vaginal birth with labor induction with prostaglandins. Conclusions: The craniorachischisis is a rare defect of the neural tube that must be diagnosed early because it is a pathology incompatible with life.


Introducción: los defectos del tubo neural son un grupo heterogéneo de alteraciones del sistema nervioso central, de origen multifactorial, principalmente ocasionados por una falla en los mecanismos de cierre del tubo neural, la cual involucra: piel, músculos paravertebrales, tejido conectivo, hueso y médula espinal. La craneorraquisquisis es la variante más grave y rara de los defectos del tubo neural. Caso clínico: Mujer de 36 años con un embarazo de 25.3 semanas, corroborado por ultrasonido del segundo trimestre, con el antecedente de un embarazo previo con anencefalia y mal control prenatal en el embarazo actual. Se le realizó un ultrasonido que diagnosticó craneorraquisquisis, por lo que se procedió a finalizar el embarazo por inducción de trabajo de aborto con prostaglandinas. Conclusiones: la craneorraquisquisis es un defecto raro del tubo neural que debe diagnosticarse tempranamente por ser una patología incompatible con la vida.


Assuntos
Anencefalia , Defeitos do Tubo Neural , Adulto , Anencefalia/complicações , Sistema Nervoso Central , Feminino , Humanos , Defeitos do Tubo Neural/etiologia , Gravidez , Ultrassonografia Pré-Natal
4.
Clin Genet ; 98(3): 299-302, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32621286

RESUMO

Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive evidence from animal models over the past two decades implicating SHROOM3 in neural tube formation; however, its exact role in human disease has remained elusive. In this report, we present the first case of a human fetus with a homozygous loss of function variant in SHROOM3. The fetus presents with anencephaly and cleft lip and palate, similar to previously described Shroom3 mouse mutants and is suggestive of a novel monogenic cause of NTD. Our case provides clarification on the contribution of SHROOM3 to human development after decades of model organism research.


Assuntos
Anencefalia/genética , Fenda Labial/genética , Fissura Palatina/genética , Proteínas dos Microfilamentos/genética , Anencefalia/complicações , Anencefalia/patologia , Fenda Labial/complicações , Fenda Labial/patologia , Fissura Palatina/complicações , Fissura Palatina/patologia , Feminino , Feto , Homozigoto , Humanos , Mutação com Perda de Função/genética , Análise em Microsséries , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/patologia
5.
Arch Gynecol Obstet ; 302(3): 619-628, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32556516

RESUMO

INTRODUCTION: Neural tube defects (NTDs) are a group of heterogeneous congenital anomalies of the central nervous system (CNS). Acrania is a non-NTD congenital disorder related to the CNS. It can transform into anencephaly through the acrania-exencephaly-anencephaly sequence (AEAS). In AEAS, the cerebral tissue is not protected and is gradually destroyed due to exposure to the harmful effect of amniotic fluid and mechanical injuries. These lead to exencephaly and then into anencephaly. In contrast to primary anencephaly (NTDs), this type of anencephaly authors suggests calling secondary anencephaly. OBJECTIVE: Analysis of the known prenatal ultrasonography (US) signs associated with AEAS. Simultaneously, the authors propose a new sign in the differentiation of acrania from exencephaly and anencephaly, called the "beret" sign. METHODS: It is a two-centre retrospective observational study. As part of the study, 4060 US scans were analyzed. RESULTS: In 10 cases, the absence of calvarium was diagnosed, allowing recognition of either AEAS stages or primary anencephaly. In 5 cases, cerebral structures were enclosed by an inertial rippled thin membrane, with a smooth outer contour. Between the described membrane and the brain structures, a thin anechoic space corresponding to cerebrospinal fluid was observed. This sign was defined as the "beret" sign. In these cases, acrania was diagnosed. In three cases calvarium was missing. The brain structures had an irregular appearance, did not wave and remained motionless. The outer contour was unequal as if divided into lobes. Amniotic fluid was anechoic. Exencephaly was diagnosed in these cases. In two cases calvarium, brain structures, and meninges were missing. The "frog eyes" sign and slightly echogenic amniotic fluid were visible. In this case, anencephaly was diagnosed. CONCLUSIONS: The "beret" sign seems to be a promising tool in the diagnosis of acrania. Furthermore, echogenicity of amniotic fluid could be useful during differentiation between primary and secondary anencephaly.


Assuntos
Anencefalia/diagnóstico por imagem , Defeitos do Tubo Neural/diagnóstico por imagem , Crânio , Ultrassonografia Pré-Natal/métodos , Líquido Amniótico , Anencefalia/complicações , Anencefalia/diagnóstico , Biomarcadores , Encéfalo/anormalidades , Feminino , Humanos , Recém-Nascido , Defeitos do Tubo Neural/complicações , Gravidez , Estudos Retrospectivos , Crânio/anormalidades , Crânio/diagnóstico por imagem , Ultrassonografia
6.
Birth Defects Res ; 111(19): 1564-1576, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-31576681

RESUMO

BACKGROUND: The neural tube defects (NTDs) are a heterogeneous group of structural birth defects that arise from a complex array of multiple genetic and environmental factors and adversely affect the structure and function of the brain and spinal cord. Spinal NTDs are clinically more common than cranial NTDs. There remains a significant gap in linking the multiple NTD phenotypes to current genomic understanding. METHODS: This article summarizes the neurosurgical clinical approach to spinal NTDs by correlating each step of embryonic development of the human nervous system with key management concepts for defects that arise at that step. RESULTS: The NTDs are broadly classified as open or closed. Open defects include myelomeningocele (MMC), encephalocele, and anencephaly. Closed defects are also known as occult spinal dysraphism and are characterized by intact skin over the spinal defect. They are more common and often cause neurologic decline from tethered cord syndrome. Failure of primary neurulation gives rise to open myelomeningocele (MMC). Surgical closure of an open MMC focuses on realigning the tissue layers that failed to separate during neurulation. In utero closure is a promising recent technique. Chronic neurosurgical management largely focuses treating hydrocephalus. The Chiari II malformation is uniformly present in MMC patients and may cause brainstem dysfunction. Tethered spinal cord may progressively impair normal neurologic function but typically responds well to surgical untethering. CONCLUSIONS: Surgical closure of MMC centers on approximated realignment of embryologically disordered neural tissue. Clinical surgical management decisions in the spinal NTDs remains challenging but standardized principles have emerged.


Assuntos
Defeitos do Tubo Neural/cirurgia , Defeitos do Tubo Neural/terapia , Anencefalia/complicações , Anencefalia/terapia , Encéfalo , Ectoderma , Embrião de Mamíferos , Desenvolvimento Embrionário , Encefalocele , Feminino , Gastrulação/fisiologia , Humanos , Hidrocefalia , Masculino , Meningomielocele/genética , Meningomielocele/cirurgia , Mesoderma , Defeitos do Tubo Neural/genética , Neurulação/fisiologia , Gravidez , Medula Espinal , Coluna Vertebral
7.
Midwifery ; 71: 12-18, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30640134

RESUMO

OBJECTIVE: As advances in prenatal diagnosis increasingly enable detection of life-limiting conditions, end-of-life care may start before birth. Termination of these pregnancies may have been default management, but in the Republic of Ireland, where termination is not a legal option, skilled experience in caring for mothers who continue their pregnancies has developed. This study examines the lived experience of four such mothers. METHOD: A qualitative study was designed using interpretive phenomenological analysis, which examined the maternal experience of continuing pregnancy with a prenatal diagnosis of anencephaly. Four mothers participated in semi-structured interviews on their experience of pregnancy and delivery of a baby with anencephaly. RESULTS: A profoundly emotional journey represented an adaptive grieving process, which culminated in rich experiences of transformative growth for all the parents. The parents' relationship with their caregivers facilitated this process and the development of a meaningful parenting relationship with their babies. This positive finding coexists alongside a parallel experience of ongoing deep sense of loss and sadness. CONCLUSION: Perinatal palliative care for those with a prenatal lethal diagnosis is a positive life experience for some mothers. The role of relationship with healthcare professionals is vital to the process and consideration must be given to a comprehensive multi-disciplinary team approach.


Assuntos
Anencefalia/complicações , Acontecimentos que Mudam a Vida , Amor , Pais/psicologia , Morte Perinatal , Adulto , Anencefalia/psicologia , Feminino , Humanos , Recém-Nascido , Irlanda , Cuidados Paliativos/métodos , Gravidez , Diagnóstico Pré-Natal/psicologia , Pesquisa Qualitativa
8.
Birth Defects Res ; 111(19): 1455-1467, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-30421543

RESUMO

Neural tube defects (NTDs) are the second most common congenital malformations in humans affecting the development of the central nervous system. Although NTD pathogenesis has not yet been fully elucidated, many risk factors, both genetic and environmental, have been extensively reported. Classically divided in two main sub-groups (open and closed defects) NTDs present extremely variable prognosis mainly depending on the site of the lesion. Herein, we review the literature on the histological and pathological features, epidemiology, prenatal diagnosis, and prognosis, based on the type of defect, with the aim of providing important information based on NTDs classification for clinicians and scientists.


Assuntos
Defeitos do Tubo Neural/epidemiologia , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/metabolismo , Anencefalia/complicações , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Fatores de Risco
9.
Birth Defects Res ; 110(2): 108-113, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29377640

RESUMO

BACKGROUND: Infants of diabetic mothers have been shown in several studies to have an increased frequency of malformations. In previous studies, an increased frequency of several specific malformations has been noted, including anencephaly, bilateral renal agenesis, and double outlet right ventricle. Surveillance, used to identify all malformed infants in a consecutive sample of births, can identify a distinctive pattern of malformations among the affected infants. METHODS: The infants of insulin-dependent, pregestational diabetic mothers were identified in the daily review of the medical records of each newborn infant with a malformation and her/his mother's medical record. Infants of mothers with gestational diabetes were excluded. The frequency of each malformation was compared to that among the malformed infants of nondiabetic mothers. RESULTS: One hundred and eighty-three malformed infants of diabetic mothers were identified among the 289,365 births. The most notable malformations were: neural tube defects (anencephaly, 9%), heart defects (transposition of great arteries, 4%), bilateral renal agenesis or dysgenesis (6%), and vertebral anomalies (hemivertebrae, 4%). CONCLUSIONS: There was a recognizable pattern of malformations and characteristics of infants of diabetic mothers, although there was variation in the pattern among affected infants. Some of the malformations in the diabetic embryopathy can be identified in prenatal screening by ultrasound. More important, their occurrence can be reduced significantly by the mother achieving much better control of her diabetes mellitus prior to conception.


Assuntos
Anencefalia/complicações , Diabetes Mellitus Tipo 1/etiologia , Dupla Via de Saída do Ventrículo Direito/complicações , Nefropatias/congênito , Rim/anormalidades , Gravidez em Diabéticas/etiologia , Anormalidades Congênitas , Complicações do Diabetes , Feminino , Humanos , Nefropatias/complicações , Masculino , Gravidez
10.
World Neurosurg ; 109: e404-e408, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28987855

RESUMO

OBJECTIVE: Shunt surgery is common in pediatric neurosurgery and is associated with relevant complication rates. We aimed to compare previously published metrics in a single data set and propose the Negative Shunt Revision Rate (NSRR), defined as proportion of shunt explorations revealing a properly working system, as a new quality metric. METHODS: Retrospective analysis of our shunt surgery activity in 2015 was performed. Demographic, clinical, and radiologic variables were extracted from electronic medical notes. Surgical Activity Rate, Revision Quotient, 30-day shunt malfunction rate, 90-day global shunt revision rate, Preventable Shunt Revision Rate, and novel NSRR were calculated. RESULTS: Of 60 shunt operations analyzed, 18 (39%) were new shunt insertions, and 42 (70%) were revisions. Median age was 18 months (range, 0.03-204 months), and main etiologies were posthemorrhagic (n = 16; 41%), congenital (n = 11; 28%), and tumor-associated (n = 8; 21%) hydrocephalus. Within 90 days after index surgery, 13 shunt failures occurred, predominantly owing to proximal failure (n = 6; 46%). Surgical Activity Rate was 0.127, Revision Quotient was 2.333, 30-day shunt malfunction rate was 0.166, 90-day global shunt revision rate was 21.7%, and Preventable Shunt Revision Rate was 38.5%. NSRR was 7.1%. CONCLUSIONS: Our results correlate with published values and offer measurement of quality that can be compared across studies and considered patient-oriented, easily measurable, and potentially modifiable. We propose NSRR as a new quality metric, covering an aspect of shunt surgery that was not addressed previously.


Assuntos
Hidrocefalia/cirurgia , Indicadores de Qualidade em Assistência à Saúde , Derivação Ventriculoperitoneal , Adolescente , Anencefalia/complicações , Neoplasias Encefálicas/complicações , Derivações do Líquido Cefalorraquidiano , Criança , Pré-Escolar , Feminino , Humanos , Hidrocefalia/etiologia , Lactente , Recém-Nascido , Hemorragias Intracranianas/complicações , Masculino , Reoperação , Estudos Retrospectivos , Falha de Tratamento
11.
Rev. cuba. obstet. ginecol ; 42(4)sep.-dic. 2016. ilus
Artigo em Espanhol | CUMED | ID: cum-68228

RESUMO

Introducción: los defectos del tubo neural se asocian a valores séricos elevados de alfafetoproteína.Objetivo: determinar la prevalencia ajustada de los defectos del tubo neural en la provincia de Villa Clara.Métodos: se realizó un estudio descriptivo retrospectivo donde se incluyeron 43 de los casos nacidos vivos o por interrupción electiva de la gestación por esta causa. Los datos sobre el tipo específico de defecto del tubo neural y los valores séricos de alfafetoproteína materna se obtuvieron del Registro Cubano de Malformaciones Congénitas y del Registro Cubano Prenatal de Malformaciones Congénitas del Centro Provincial de Genética Médica de Villa Clara.Resultados: mediante técnicas de estadística espacial se buscaron conglomerados temporales, espaciales o ambos. Se concluyó que la tasa de prevalencia ajustada fue de 5,47 por cada 1000 recién nacidos. Los niveles séricos de alfafetoproteína resultaron de utilidad para el diagnóstico de los defectos del tubo neural abiertos como la anencefalia.Conclusiones: los hallazgos de conglomerados espaciales y temporales, permitieron identificar los municipios que deben ser objeto de intervención, a través de programas destinados a la identificación y control de posibles factores de riesgo ambientales relacionados con estos defectos congénitos(AU)


Introduction: Neural tube defects are associated to high serum alpha fetoprotein values.Objective: To determine the adjusted prevalence rate of the neural tube defects in Villa Clara province.Methods: A retrospective and descriptive study was conducted in 43 of the infants born alive or from elective cessation of pregnancy because of this problem. Data on specific type of the neural tube defect and the maternal serum alpha fetoprotein values were taken from the Cuban Register of Congenital Malformations and from the Cuban Prenatal Congenital Malformations of the provincial center of medical genetics in Villa Clara province.Results: The spatial statistical techniques allowed finding time, spatial or spatial-time clusters. The adjusted prevalence rate was 5.47 per 1000 newborns. The serum alpha fetoprotein levels observed in the study were useful for the diagnosis of the open neural tube defects such as anencephaly.Conclusions: The spatial and time cluster findings allowed determining those municipalities where intervention is necessary through programs for the detection and control of possible environmental factors related to these congenital defects(AU)


Assuntos
Humanos , Defeitos do Tubo Neural/complicações , Anormalidades Congênitas/diagnóstico , Complicações na Gravidez , Anencefalia/complicações , Epidemiologia Descritiva , Estudos Retrospectivos
12.
Rev. iberoam. fertil. reprod. hum ; 33(2): 19-24, abr.-jun. 2016. tab
Artigo em Espanhol | IBECS | ID: ibc-153884

RESUMO

OBJETIVO: Evaluar si las técnicas de reproducción asistida influyen sobre los resultados perinatales del embarazo gemelar. Sujetos y métodos: Estudio de revisión de resultados perinatales en embarazos gemelares en una clínica privada en el que se incluyen todos los embarazos gemelares espontáneos y por técnicas de reproducción asistida (TRA) que acuden a su atención obstétrica excluyendo aquellas mujeres con enfermedades preexistentes que supongan un resultado perinatal adverso. Se analizan 95 casos. RESULTADOS: No hubo diferencia estadística en términos de diabetes gestacional, presencia de preeclampsia, práctica de cesárea, peso promedio del recién nacido e ingreso a unidad de cuidados intensivos neonatales. Hubo diferencia estadística en los casos de anemia gestacional (61,29 % del grupo de gemelar espontáneo versus un 31,25 % del gemelar por TRA, p= 0,0075) y en el grupo de semanas de edad gestacional al momento del parto: 32-36,6 semanas (32,25 % para gemelar espontáneo y 65,62 % para gemelar por TRA, p = 0,0039) y en el de >37 semanas de gestación (58,08 % para gemelar espontáneo y 26,57 % para gemelar por TRA, p = 0,0059). CONCLUSIONES: Las técnicas de reproducción asistida se asocian con una mayor prevalencia de parto pretérmino


OBJECTIVE: To evaluate if assisted reproductive techniques affect perinatal outcomes of twin pregnancies. Subject and method: This is a review of perinatal outcomes of twin pregnancies in a private institution. All twin pregnancies detected were included and classified in two groups: spontaneous pregnancy and assisted reproduction (AR) pregnancy. Those women who had a preexistent condition that could represent an adverse outcome were excluded. 95 cases were included. RESULTS: There was no statistical difference in terms of gestational diabetes, preeclampsia, c-section, newborn weight and in those who required neonatal intensive care. There was statistical difference in gestational anemia (61.29 % vs 31.25 % for spontaneous twin pregnancy and assisted reproduction twin pregnancy respectively, p = 0.0075) and in two groups according to gestational weeks at delivery: 32-36.6 weeks (32.25 % for spontaneous twin pregnancy and 65.62 % for AR twin pregnancy, p = 0.0039) and >37 weeks at delivery (58.08 % for spontaneous twin pregnancy and 26.57 % for AR twin pregnancy, p = 0.0059). CONCLUSION: Assisted reproductive techniques associate with a higher prevalence of preterm labor


Assuntos
Humanos , Feminino , Gravidez de Gêmeos/fisiologia , Gravidez de Gêmeos/estatística & dados numéricos , Técnicas de Reprodução Assistida/estatística & dados numéricos , Técnicas de Reprodução Assistida/tendências , Técnicas de Reprodução Assistida , Fertilidade/fisiologia , Estudos Retrospectivos , Fatores de Risco , Anencefalia/complicações , Anencefalia/diagnóstico , Análise de Dados/métodos , Anemia/complicações , Pré-Eclâmpsia/diagnóstico , Diabetes Gestacional/diagnóstico
13.
Birth Defects Res A Clin Mol Teratol ; 97(2): 109-14, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23307653

RESUMO

BACKGROUND: Several human studies suggested an association between maternal stressful life events and increased risk of neural tube defects (NTDs). All of these studies, however, are from the United States; little was known among populations in developing countries that have different social and economic status. METHODS: We examined the association between occurrence of maternal severe stressful life events during the periconceptional period and risk of NTDs in a population-based case-control study in Shanxi Province, China. Participants included 631 NTD cases (285 with anencephaly, 297 with spina bifida, and 49 with encephalocele) and 862 normal controls born between 2002 and 2007. Exposure information was collected within 1 week after delivery. The multivariable logistic regression model was used to estimate the adjusted odds ratio (OR) and its 95% confidence interval (95% CI) controlling for potential confounding variables. RESULTS: Occurrence of maternal severe stressful life events was associated with a crude OR of 6.3 (95% CI, 2.8-14.4) for NTDs. After adjustment for all potential variables, the adjusted OR for NTDs remain significant (adjusted OR, 4.2; 95% CI, 1.4-12.6), and stronger for anencephaly (adjusted OR, 4.4; 95% CI, 1.2-15.9) than for spina bifida (adjusted OR, 3.4; 95% CI, 0.9-12.7). Adjustment for lifestyle variables greatly reduced the risk by 32%. A significant difference was found for some lifestyle characteristics between women with and without severe life events. CONCLUSIONS: This study confirmed the association between maternal stress and risk of NTDs that has been consistently reported in the United States. The effect may be the combined results of maternal physiologic changes and lifestyle changes.


Assuntos
Anencefalia/epidemiologia , Encefalocele/epidemiologia , Disrafismo Espinal/epidemiologia , Estresse Psicológico/epidemiologia , Adulto , Anencefalia/complicações , Anencefalia/patologia , Estudos de Casos e Controles , China/epidemiologia , Encefalocele/complicações , Encefalocele/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Acontecimentos que Mudam a Vida , Estilo de Vida , Razão de Chances , Gravidez , Fatores de Risco , População Rural , Disrafismo Espinal/complicações , Disrafismo Espinal/patologia , Estresse Psicológico/complicações , Estresse Psicológico/patologia
14.
J Investig Clin Dent ; 4(1): 3-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23255477

RESUMO

Neural tube defects are common congenital malformations that could be apparent at birth or manifested in later stages of life. Morbidity is high in anencephaly, whereas in spina bifida, there are neurological and motor disorders. These defects deserve paramount importance in clinical dentistry. Latex allergy, dental caries, difficulty in mouth opening, and sitting in a dental chair are common problems. There is a high risk of anaphylactic response during anaesthesia. There could be associated craniosynostosis causing maxillary deficiency, and malformed sella turcica might be seen. An association of the defects has been linked with orofacial clefts and Down syndrome.


Assuntos
Assistência Odontológica para a Pessoa com Deficiência , Defeitos do Tubo Neural/complicações , Anencefalia/complicações , Fenda Labial/etiologia , Fissura Palatina/etiologia , Humanos , Disrafismo Espinal/complicações
15.
Fetal Pediatr Pathol ; 31(6): 379-87, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22443204

RESUMO

Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.


Assuntos
Anencefalia/diagnóstico , Ácido Fólico/metabolismo , Hipospadia/diagnóstico , Imageamento por Ressonância Magnética , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas , Aborto Eugênico , Adulto , Anencefalia/complicações , Anencefalia/metabolismo , Evolução Fatal , Feminino , Humanos , Hipospadia/complicações , Hipospadia/metabolismo , Masculino , Gravidez , Segundo Trimestre da Gravidez
16.
Vet Pathol ; 49(6): 1043-8, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22431914

RESUMO

Aprosencephaly is a rare condition in veterinary and human medicine characterized by the complete absence of telencephalon and diencephalon. Some cases are accompanied by a facial dysmorphism designated as otocephaly. A stillborn lamb had splanchnocranial anomalies that were classified by computed tomography, magnetic resonance imaging, and pathologic examination as aprosencephaly and otocephaly. The brain included parts of the cerebellum and brainstem but no telencephalon, diencephalon, or mesencephalon. The cerebellum had a structurally normal cortex with expression of neuronal nuclear antigen in the inner and doublecortin in the outer granular cell layers, as well as an irregularly situated nucleus dentatus. Aprosencephaly with otocephaly has been described in mice with heterozygous mutations in the Otx2 gene; however, no causative polymorphisms were detected in the Otx2 gene region of this lamb.


Assuntos
Anencefalia/veterinária , Anormalidades Craniofaciais/veterinária , Doenças dos Ovinos/diagnóstico , Anencefalia/complicações , Anencefalia/diagnóstico , Animais , Tronco Encefálico/anormalidades , Cerebelo/anatomia & histologia , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , DNA/química , DNA/genética , Feminino , Imuno-Histoquímica/veterinária , Imageamento por Ressonância Magnética/veterinária , Masculino , Fatores de Transcrição Otx/genética , Fenótipo , Gravidez , Análise de Sequência de DNA/veterinária , Ovinos , Crânio/anormalidades , Natimorto/veterinária , Tomografia Computadorizada por Raios X/veterinária
17.
J Sex Med ; 9(3): 735-42, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22239726

RESUMO

INTRODUCTION: Anencephaly is the most severe neural tube defect in human fetuses. There is an increasing need for tissue replacement in chronic diseases and reconstructive surgeries. Fetal tissues have been used as a substitute for native organs. AIM: The aim of this article was to compare the structure and morphology of the corpora cavernosa (CC) and spongiosum (SP) of penises from anencephalic and normal human fetuses. MAIN OUTCOME MEASURES: The main outcome measures of this study were the proposition of a new model for biological studies and tissue transplantation. METHODS: We studied 11 penises from normal human fetuses, aged 14-23 weeks postconception (WPC), and five penises from anencephalic fetuses, aged 18-22 WPC. The organs were removed and processed by routine histological and immunolabeling techniques. Analysis of connective tissue (Cot), smooth muscle (SMC), and elastic fiber (EF) were performed in sections. Data were expressed as area density (Ad) using digital processing and software. Means were statistically compared using the unpaired t-test and linear regression was performed. Statistical significance was considered if P<0.05. RESULTS: The intracavernosal septum was present in all samples. We did not observe differences in the Ad of Cot and SMC in the penises of anencephalic fetuses when compared with normal ones. The simple linear regression suggested that during human development, there is a gradual increase in Cot (R(2)=+0.45) and a decrease of SMC (R(2)=-0.62) in the CC in both groups studied. Elastin was observed only in fetuses from 20th WPC. CONCLUSIONS: There was no difference in the structure of the CC and corpus SP of anencephalic fetuses compared with normal ones. Elastin was documented from 20th WPC, which suggests the maintenance of erectile function. Histochemistry and immunolabeling suggested that penile shaft development is maintained and unaltered in anencephalic fetuses. Further studies should be performed to analyze anencephalic fetuses as a potential tissue-donating group and a model for biological studies.


Assuntos
Anencefalia/complicações , Doenças Fetais/etiologia , Doenças do Pênis/etiologia , Pênis/anormalidades , Feminino , Humanos , Masculino , Pênis/embriologia , Gravidez , Doadores de Tecidos
19.
Histol Histopathol ; 26(5): 581-8, 2011 05.
Artigo em Inglês | MEDLINE | ID: mdl-21432773

RESUMO

PURPOSE: Anencephaly is the most severe neural tube defect in human fetuses. The objective of this paper is to analyze the structure of the bladder in anencephalic human fetuses. METHODS: We studied 40 bladders of normal human fetuses (20 male and 20 female, aged 14 to 23 WPC) and 12 bladders of anencephalic fetuses (5 male and 7 female, aged 18 to 22 WPC). The bladders were removed and processed by routine histological techniques. Stereological analysis of collagen, elastic system fibers and smooth muscle was performed in sections. Data were expressed as volumetric density (Vv-%). The images were captured with Olympus BX51 microscopy and Olympus DP70 camera. The stereological analysis was done using the software Image Pro and Image J. For biochemical analysis, samples were fixed in acetone, and collagen concentrations were expressed as micrograms of hydroxyproline per mg of dry tissue. Means were statistically compared using the unpaired t-test (p<0.05). RESULTS: We observed a significant increase (p<0.0001) in the Vv of collagen in the bladders of anencephalic fetuses (69.71%) when compared to normal fetuses (52.74%), and a significant decrease (p<0.0001) in the Vv of smooth muscle cells in the bladders of anencephalic fetuses (23.96%) when compared to normal fetuses (38.35%). The biochemical analyses showed a higher concentration of total collagen in the bladders of anencephalic fetuses (37354 µg/mg) when compared to normal fetuses (48117 µg/mg, p<0.02). CONCLUSIONS: The structural alterations of the bladder found in this study may suggest the existence of functional alterations in the bladder of anencephalic human fetuses.


Assuntos
Defeitos do Tubo Neural/complicações , Bexiga Urinária/anormalidades , Anormalidades Múltiplas , Anencefalia/complicações , Colágeno/metabolismo , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Imuno-Histoquímica/métodos , Masculino , Músculo Liso/metabolismo , Gravidez , Bexiga Urinária/embriologia
20.
Prenat Diagn ; 30(4): 357-60, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20198650

RESUMO

OBJECTIVE: Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timing of death. METHOD: A retrospective review of cases of anencephaly diagnosed between 2003 and 2009 in tertiary-referral university teaching hospitals in Cork. RESULTS: The majority of cases (25/26; 96%) were diagnosed prenatally at a median gestation of 21(+2) weeks (range 13(+4)-32(+4)). The median maternal age was 30 years (range 17-41) and 50% were primigravidae. Seven pregnancies were complicated by polyhydramnios and four deliveries were complicated by shoulder dystocia. The median gestation at delivery was 35 weeks (range 22(+5)-42(+6)); 69% of labours were induced at a median gestation of 34 weeks. Six women (6/26; 23%) had a pre-labour intrauterine fetal death and nine women (9/26; 35%) had an intrapartum fetal death. Median neonatal survival time was 55 min (range 10 min to 8 days). Six parents donated neonatal organs for transplantation. CONCLUSION: This study provides useful information for health professionals caring for patients with a diagnosis of anencephaly. The majority of these infants die prior to delivery but short-term survival is possible.


Assuntos
Anencefalia/epidemiologia , Adolescente , Adulto , Anencefalia/complicações , Anencefalia/diagnóstico por imagem , Feminino , Morte Fetal/etiologia , Humanos , Irlanda/epidemiologia , Gravidez , Ultrassonografia Pré-Natal , Adulto Jovem
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