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Psicol. ciênc. prof ; 43: e244244, 2023.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1448957


Com os avanços tecnológicos e o aprimoramento da prática médica via ultrassonografia, já é possível detectar possíveis problemas no feto desde a gestação. O objetivo deste estudo foi analisar a prática do psicólogo no contexto de gestações que envolvem riscos fetais. Trata-se de um estudo qualitativo sob formato de relato de experiência como psicólogo residente no Serviço de Medicina Fetal da Maternidade Escola da Universidade Federal do Rio de Janeiro (UFRJ). Os registros, feitos por observação participante e diário de campo, foram analisados em dois eixos temáticos: 1) intervenções psicológicas no trabalho em equipe em consulta de pré-natal, exame de ultrassonografia e procedimento de amniocentese; e 2) intervenções psicológicas em casos de bebês incompatíveis com a vida. Os resultados indicaram que o psicólogo nesse serviço é essencial para atuar de forma multiprofissional na assistência pré-natal para gravidezes de alto risco fetal. Ademais, a preceptoria do residente é relevante para sua formação e treinamento para atuação profissional no campo da psicologia perinatal.(AU)

Face to the technological advances and the improvement of medical practice via ultrasound, it is already possible to detect possible problems in the fetus since pregnancy. The objective of this study was to analyze the psychologist's practice in the context of pregnancies which involve fetal risks. It is a qualitative study based on an experience report as a psychologist trainee at the Fetal Medicine Service of the Maternity School of UFRJ. The records, based on the participant observation and field diary, were analyzed in two thematic axes: 1) psychological interventions in the teamwork in the prenatal attendance, ultrasound examination and amniocentesis procedure; and 2) psychological interventions in cases of babies incompatible to the life. The results indicated that the psychologist in this service is essential to work in a multidisciplinary way at the prenatal care for high fetal risk pregnancies. Furthermore, the resident's preceptorship is relevant to their education and training for professional performance in the field of Perinatal Psychology.(AU)

Con los avances tecnológicos y la mejora de la práctica médica a través de la ecografía, ya se puede detectar posibles problemas en el feto desde el embarazo. El objetivo de este estudio fue analizar la práctica del psicólogo en el contexto de embarazos de riesgos fetal. Es un estudio cualitativo basado en un relato de experiencia como residente de psicología en el Servicio de Medicina Fetal de la Escuela de Maternidad de la Universidade Federal do Rio de Janeiro (UFRJ). Los registros, realizados en la observación participante y el diario de campo, se analizaron en dos ejes temáticos: 1) intervenciones psicológicas en el trabajo en equipo, en la consulta prenatal, ecografía y los procedimientos de amniocentesis; y 2) intervenciones psicológicas en casos de bebés incompatibles con la vida. Los resultados señalaron como fundamental la presencia del psicólogo en este servicio trabajando de forma multidisciplinar en la atención prenatal en el contexto de embarazos de alto riesgo fetal. Además, la tutela del residente es relevante para su educación y formación para el desempeño profesional en el campo de la Psicología Perinatal.(AU)

Humans , Female , Pregnancy , Prenatal Care , Pregnancy, High-Risk , Psychosocial Intervention , Heart Defects, Congenital , Anxiety , Orientation , Pain , Parent-Child Relations , Parents , Paternity , Patient Care Team , Patients , Pediatrics , Placenta , Placentation , Pregnancy Complications , Pregnancy Maintenance , Prognosis , Psychoanalytic Theory , Psychology , Puerperal Disorders , Quality of Life , Radiation , Religion , Reproduction , Reproductive and Urinary Physiological Phenomena , General Surgery , Syndrome , Congenital Abnormalities , Temperance , Therapeutics , Urogenital System , Bioethics , Physicians' Offices , Infant, Premature , Labor, Obstetric , Pregnancy , Pregnancy, Animal , Pregnancy Outcome , Adaptation, Psychological , Pharmaceutical Preparations , Echocardiography , Magnetic Resonance Spectroscopy , Family , Abortion, Spontaneous , Child Rearing , Child Welfare , Mental Health , Family Health , Survival Rate , Life Expectancy , Cause of Death , Ultrasonography, Prenatal , Chromosome Mapping , Parental Leave , Mental Competency , Polycystic Kidney, Autosomal Recessive , Down Syndrome , Perinatal Care , Comprehensive Health Care , Chemical Compounds , Depression, Postpartum , Neurobehavioral Manifestations , Disabled Children , Diagnostic Techniques and Procedures , Gravidity , Crisis Intervention , Affect , Cytogenetic Analysis , Spirituality , Complicity , Value of Life , Humanizing Delivery , Death , Decision Making , Defense Mechanisms , Abortion, Threatened , Delivery of Health Care , Dementia , Uncertainty , Organogenesis , Qualitative Research , Pregnant Women , Early Diagnosis , Premature Birth , Nuchal Translucency Measurement , Child Mortality , Depression , Depressive Disorder , Postpartum Period , Diagnosis , Diagnostic Techniques, Obstetrical and Gynecological , Ethanol , Ego , Emotions , Empathy , Environment , Humanization of Assistance , User Embracement , Ethics, Professional , Cell Nucleus Shape , Prenatal Nutrition , Cervical Length Measurement , Family Conflict , Family Therapy , Resilience, Psychological , Reproductive Physiological Phenomena , Female Urogenital Diseases and Pregnancy Complications , Gestational Sac , Brief, Resolved, Unexplained Event , Fetal Death , Embryonic and Fetal Development , Multimodal Imaging , Mortality, Premature , Clinical Decision-Making , Pediatric Emergency Medicine , Child, Foster , Freedom , Burnout, Psychological , Birth Setting , Frustration , Sadness , Respect , Psychological Distress , Genetics , Psychological Well-Being , Obstetricians , Guilt , Happiness , Health Occupations , Hospitalization , Hospitals, Maternity , Hospitals, University , Human Development , Human Rights , Imagination , Infections , Infertility , Anencephaly , Jurisprudence , Obstetric Labor Complications , Licensure , Life Change Events , Life Support Care , Loneliness , Love , Medical Staff, Hospital , Intellectual Disability , Morals , Mothers , Narcissism , Congenital, Hereditary, and Neonatal Diseases and Abnormalities , Neonatology , Nervous System Malformations , Object Attachment
Chinese Journal of Medical Genetics ; (6): 181-185, 2023.
Article in Chinese | WPRIM | ID: wpr-970901


OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up.@*METHODS@#A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis.@*RESULTS@#In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001).@*CONCLUSION@#Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

Female , Pregnancy , Humans , Holoprosencephaly , Prenatal Diagnosis/methods , Central Nervous System , Fetus/abnormalities , Nervous System Malformations/genetics , Microarray Analysis , Central Nervous System Diseases , Cysts , Chromosome Aberrations , Ultrasonography, Prenatal/methods
Chinese Journal of Medical Genetics ; (6): 81-86, 2023.
Article in Chinese | WPRIM | ID: wpr-970883


OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3).@*METHODS@#Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3.@*RESULTS@#The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant.@*CONCLUSION@#The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.

Humans , Child , Mutation , Autoimmune Diseases of the Nervous System/genetics , Nervous System Malformations/genetics
Rev. Méd. Inst. Mex. Seguro Soc ; 60(1): 80-84, 2022. ilus
Article in Spanish | LILACS | ID: biblio-1361670


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.

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.

Humans , Female , Pregnancy , Adult , Neural Tube Defects , Pregnancy Complications , Diagnostic Imaging , Social Factors , Nervous System Malformations
Ghana med. j ; 56(4): 268-275, 2022. tales, figures
Article in English | AIM | ID: biblio-1402084


Objectives: To determine the birth prevalence, trend, and characteristics of external structural birth defects occurrence in Enugu Metropolis, Nigeria. Design: Cross-sectional study involving review of delivery records. Setting: The study was conducted at three tertiary hospitals, one public and two missionary, in Enugu Metropolis. Participants: Mothers and their babies delivered between 1 January 2009 and 31 December 2016 in the study facilities. Main outcome measures: Birth prevalence of defects presented as frequency/10,000 births. Other descriptive variables are presented as frequencies and percentages. Results: There were 21530 births with 133 birth defects (birth prevalence: 61.8/10,000 births) and 1176 stillbirths (stillbirth rate: 54.6/1000 births). The frequencies and birth prevalence (/10,000 births) of recorded defects were: Limb deformities 60(27.9), Neural tube defects (NTDs): 36(16.7), Urogenital system defects: 12(5.6), Gastrointestinal system defects 10(4.6) and Orofacial clefts 4(1.9). Birth defects occurrence showed a rising trend from 2009 to 2016. The mean (SD) age of mothers whose babies had Birth defects was 29.1(4.7) years. Only 62(46.6%) of 133 antenatal clinic folders of these women were traceable for further review. Eighteen (29.0%) had febrile illness in early pregnancy, 9(14.5%) had Malaria, 17(27.4%) had <4 antenatal clinic attendance, 7(11.3%) did not take folic acid and 6(9.7%) took herbal medications during pregnancy. Conclusions: Birth defects occurrence showed a rising trend with limb deformities and NTDs having the highest prevalence. Record keeping was poor at the facilities. Birth defects preventive interventions like folic acid supplementation for women-of-childbearing age should be promoted in Enugu Metropolis.

Humans , Epidemiology, Descriptive , Measures of Disease Occurrence , Overtreatment , Nervous System Malformations
Chinese Journal of Medical Genetics ; (6): 985-988, 2021.
Article in Chinese | WPRIM | ID: wpr-921982


OBJECTIVE@#To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Candidate variant was verified by Sanger sequencing of the family member.@*RESULTS@#The proband manifested dyskinesia, development delay, cerebellar hypoplasia and bilateral hearing impairment. WES results revealed that the proband has carried a pathogenic c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene, which was verified by Sanger sequencing to be a de novo variant.@*CONCLUSION@#The c.1641_1644delACAA (p.Thr548Trpfs*69) variant of the CASK gene probably underlay the MICPCH in the proband. Above finding has provided a basis for genetic counseling. WES should be considered for the diagnosis of neurological dysplasia.

Child , Humans , Cerebellum/abnormalities , Developmental Disabilities , Family , Mental Retardation, X-Linked , Microcephaly/genetics , Nervous System Malformations
Rev. colomb. med. fis. rehabil. (En línea) ; 30(2): 175-180, 2020. ilus, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1509308


Las neuropatías agrupan un gran número de patologías de nervio periférico; estas pueden ser adquiridas o hereditarias, de origen sistémico o restringidas a un número de nervios. Las neuropatías son causa de dolor e incapacidad y requieren un manejo multidisciplinar para mejorar la calidad de vida de los pacientes. Dentro de ellas tenemos la neuropatía motora multifocal (NMM), también denominada 'neuropatía motora multifocal con bloqueo de conducción' (NMMCB), la cual es una neuropatía adquirida, inflamatoria, poco frecuente, caracterizada por debilidad en las extremidades, sin pérdida sensorial, progresiva y asimétrica. Se presenta además un bloqueo persistente de la conducción nerviosa que afecta las fibras motoras de forma selectiva.

Neuropathies group a large number of peripheral nerve pathologies; these can be acquired or hereditary, of systemic origin or restricted to a number of nerves. Neuropathies cause pain and disability and require multidisciplinary management to improve the quality of life of patients. Among them we have multifocal motor neuropathy (MMN), also called 'multifocal motor neuropathy with conduction block' (MMPNB), which is an acquired, inflammatory, rare neuropathy, characterized by weakness in the extremities, without sensory loss, progressive and asymmetric. There is also a persistent nerve conduction block that selectively affects motor fibers.

Humans , Male , Adult , Hereditary Sensory and Motor Neuropathy , Nervous System Malformations
Rev. Salusvita (Online) ; 38(3): 685-692, 2019.
Article in Portuguese | LILACS | ID: biblio-1051639


Introdução: A hidranencefalia é a forma mais grave de destruição cortical cerebral bilateral cujo diagnóstico diferencial inclui hidrocefalia severa, holoprosencefalia alobar e síndrome de Walker-Warburg. É uma anomalia rara, ocorrendo em menos de 1 a cada 10.000 nascimentos em todo o mundo. Objetivo: Relatar um caso raro de hidranencefalia diagnosticado na ultrassonografia obstétrica com correlação com a ultrassonografia transfontanelar e com a tomograRecebido em: 14/03/2019 fia computadorizada. Materiais e Métodos: Revisão do prontuário, registro fotográfico dos métodos diagnósticos e revisão da literatura. Resultados: Paciente do sexo feminino, 33 anos, com 33 semanas e 05 dias de gestação, referindo perda de líquido amniótico. A ultrassonografia obstétrica apresenta importante alteração do parênquima cerebral substituído por líquido cefalorraquidiano; a foice cerebral está presente. Tais alterações são compatíveis com hidranencefalia. Conclusão: Relatamos um caso raro de hidranencefalia comparando o exame pré-natal diagnóstico ­ ultrassonografia obstétrica ­ com os exames pós-natais ­ ultrassonografia transfontanelar e tomografia computadorizada.

Introduction: Hydranencephaly is the most severe form of bilateral cerebral cortical destruction which the differential diagnosis includes severe hydrocephalus, alobar holoprosencephaly and Walker-Warburg syndrome. It is a rare anomaly, occurring in less than 1 per 10,000 births worldwide. Objective: Report a rare case of hydranencephalia diagnosed by obstetric ultrasonography correlated with transfontanelar ultrasonography and computed tomography scan. Materials and Methods: We carried out a review of medical records, photographic record of diagnostic methods, and review from the literature. Results: We report a 33 years-old female patient, with 33 weeks and 05 day of gestation reffering loss of amniotic fluid. Obstetric ultrasonography shows close destruction of the brain parenchyma replaced by cerebrospinal fluid. The falx cerebri is present. Those features are compatible with hydranencephaly. Conclusion: We report a rare case of hydranencephaly comparing prenatal diagnosis - obstetric ultrasonography - with postnatal exams - transfontanelar ultrasonography and computed tomography.

Female , Pregnancy , Adult , Hydranencephaly , Tomography, X-Ray Computed , Nervous System Malformations
Rev. méd. Hosp. José Carrasco Arteaga ; 10(1): 53-53, mar. 2018. Imagenes
Article in Spanish | LILACS | ID: biblio-998225


INTRODUCCIÓN: La diastematomielia es una malformación raquimedular, un desdoblamiento sagital de la médula espinal, frecuentemente por debajo de la quinta vértebra dorsal; siendo una presentación rara de disrafismo espinal (menos del 3 %), más frecuente en el sexo femenino (3:1), se presenta entre los 10 y 76 años de edad. Puede ser asintomática y un descubrimiento incidental. Su diagnóstico es básicamente radiológico. CASO CLÍNICO: Paciente de sexo masculino de 20 años de edad, con cuadro de lumbalgia crónica, habiendo sido tratado por diferentes especialistas y tratamientos. Se solicitó estudios de imagen con la finalidad de esclarecer el diagnóstico; en la exploración física reportó zona de hipertricosis localizada a nivel lumbosacro y escoliosis dorsolumbar leve. EVOLUCIÓN: Los estudios radiológicos, tomográficos y de resonancia magnética evidenciaron la fusión de los cuerpos vertebrales L2 - L3 (espolón óseo), asociando anomalías de fusión de los elementos posteriores con división del canal raquídeo, y en médula espinal dos hemimédulas. Al momento el paciente se encuentra en controles periódicos por el servicio de traumatología con tratamiento clínico. CONCLUSIONES: No es sencillo el diagnóstico, frecuentemente se realiza en etapas tardías, cuando las alteraciones neurológicas son explícitas. Es preciso permanecer alerta ante alteraciones cutáneas de la línea media; dado que puede ser indicadora de diastematomielia o de cualquier disrafismo oculto.

BACKGROUND: Diastematomyelia is a spinal cord malformation consisting of a sagittal split spinal cord, often below the fifth thoracic vertebra and being a rare presentation of occult spinal dysraphism (less than 3 %), and it is more common in females (3:1), in the age of 10 and 76 years old. It can be asymptomatic and be discovered incidentally. It is basically radiological diagnosis. CASE REPORT: A 20 - years old, male patient presents chronic and unwilling back pain treatment, which has been treated by different specialists and treatments. If was requested image exams in order to clarify the diagnosis. Physical examination zone localized hypertrichosis and lumbosacral thoracolumbar scoliosis reported. EVOLUTION: The computed tomography and magnetic resonance showed the fusion of the L2 - L3 (bone spurs) associated with abnormalities fusion of the posterior elements with division of the spinal canal into two compartments, vertebral bodies and spinal cord in two hemicords. At present, the patient is under periodic controls by the traumatology service with clinical treatment. CONCLUSIONS: It is not easy diagnosis diastematomyelia often is performed in later stages, when neurological disorders are already flowered. Because of this, must remain alert to any skin disorder midline, it can be indicative of diastematomyelia or any of the hidden dysraphisms.

Humans , Male , Magnetic Resonance Spectroscopy , Tomography, X-Ray Computed , Neural Tube Defects , Nervous System Malformations
Rev. Pesqui. Fisioter ; 8(1): 16-23, fev., 2018. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-910209


Introduction: Congenital malformations are represented by functional or structural anomalies of fetal development. Of note is Encephalocele, Microcephaly, Congenital Hydrocephalus, Spina Bifida, other Malformations of the brain, other malformations of the spinal cord and other malformations of the nervous system. Objective: To describe the temporal tendency of the congenital malformations of the nervous system in the period from 2010 to 2014 in Brazil. Methods: A descriptive ecological study of the temporal trend encompassing the years 2010 to 2014, whose data were collected from the Department of Informatics of the DATASUS Single Health System, in the information system on live births (SINASC), and these data are in agreement with The IBGE population estimates. The sample selection was performed using the Health Information platform (TABNET). Newborns with congenital malformations of the nervous system were enrolled in the years 2010 to 2014 in Brazil, being identified by ICD-10: Q00 to Q007. The variables of this study were: Region (North, Northeast, South, Southeast and Center West), sex (male and female), type of delivery (vaginal, cesarean and forceps), maternal age, gestational age and birth weight. Results: The highest number of occurrences of malformations through DATASUS in the period from 2010 to 2014 was in the Southeast region, followed by the Northeast. Conclusion: The present study demonstrated an epidemiological panorama of the cases of congenital malformations of the nervous system. These results serve as a tool for health planning and interventions, as well as for a better understanding of public managers, in order to serve this population and direct investment in this area. (AU)

Introdução: As malformações congênitas são representadas por anomalias funcionais ou estruturais do desenvolvimento fetal. Destaca-se a Encefalocele, Microcefalia, Hidrocefalia Congênita, Espinha Bífida, outras Malformações do cérebro, outras Malformações da medula espinhal e outras Malformações do sistema nervoso. Objetivo: Descrever a tendência temporal das malformações congênitas do sistema nervoso no período de 2010 a 2014 no Brasil. Métodos: Estudo ecológico descritivo de tendência temporal englobando os anos de 2010 a 2014, cujos dados foram coletados do Departamento de Informática do Sistema Único de Saúde DATASUS, no sistema de informação sobre nascidos vivos (SINASC) sendo que estes respectivos dados estão de acordo com as estimativas populacionais do IBGE. A seleção da amostra foi realizada a partir da plataforma Informações de Saúde (TABNET). Foram incluídos recém-nascidos com malformações congênitas do sistema nervoso registrados nos anos de 2010 a 2014 no Brasil, sendo identificadas pelo CID-10: Q00 a Q007. As variáveis desse estudo foram: Região (Norte, Nordeste, Sul, Sudeste e Centro Oeste), sexo (masculino e feminino), tipo de parto (vaginal, cesáreo e fórceps), idade da mãe, idade gestacional e peso ao nascer. Resultados: Os maiores números de ocorrência das malformações através do DATASUS, no período de 2010 a 2014 foi na região do Sudeste, seguido do Nordeste. Conclusão: O presente estudo demonstrou um panorama epidemiológico dos casos de malformações congênitas do sistema nervoso. Esses resultados servem como ferramenta para planejamento e intervenções em saúde, assim como, para um melhor entendimento dos gestores públicos, a fim de atender essa população e direcionar investimento nessa área. (AU)

Congenital Abnormalities , Nervous System Malformations , Unified Health System
Pediatr. (Asunción) ; 45(1): 8-15, 2018.
Article in Spanish | LILACS | ID: biblio-914007


Introducción: Las malformaciones congénitas constituyen la segunda causa de mortalidad infantil en América del Sur, según datos de la OMS. Objetivo: Determinar la asociación entre los factores de riesgo prenatales y las malformaciones congénitas de pacientes internados en un hospital de referencia. Material y Método: Estudio retrospectivo, analítico de caso-control, corte transversal en pacientes internados desde Octubre 2014 a Octubre 2015 que cumplieron con criterios de inclusión y exclusión como caso; además en pacientes ambulatorios que cumplieron criterios de inclusión y exclusión como control. Con pareo 1:1 por edad y sexo. Instrumento: encuesta estructurada. Tamaño de muestra con variable cualitativa, valor de Z: 1,9, P: 4% (Porcentaje en población general 2 a 5%) de la variable principal, valor de D: 95% y el valor de p de 0,05, resultando N: 60 por grupo. Resultados: Se consideraron 66 casos y 66 controles pareados por edad y sexo; edades comprendidas de 1 mes a 15 años, media de 2 años (DE: +2,63), masculino 61%. Los Casos provenían 41% (27) del Interior del País y los Controles 11% (7). Las malformaciones más frecuentes fueron las del sistema nervioso central 29% (19/66) seguidas de las cardíacas 23% (15/66). El diagnóstico prenatal por ecografía obstétrica se observó en 33% de los casos (21/66). Al realizar regresión logística multivariada se encontró asociación entre malformaciones congénitas y antecedentes de malformaciones en la familia (OR 20,8, 95% CI 2,66- 162,2), antecedente de un hijo previo con síndrome genético (OR 8,84, 95% CI 1,35- 73,86) y falta de suplementación con ácido fólico antes o durante el embarazo (OR 3,44, 95% CI 1,49- 8,33) distancia de la vivienda de campos fumigados menor a 1 km (OR 3,75, 95% CI 0,98- 14,31) y exposición materna directa a plaguicidas(OR 4,51, 95% CI 1,77- 11,46). Conclusión: La falta de suplemento de ácido fólico, el antecedente de malformación congénita en la familia y la exposición materna a agroquímicos tuvieron asociación estadística significativa. Se plantea probable sesgo de la falta de pareo por Procedencia.

Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Congenital Abnormalities/epidemiology , Pesticides/adverse effects , Congenital Abnormalities/etiology , Cross-Sectional Studies , Retrospective Studies , Risk Factors , Cardiovascular Abnormalities/etiology , Cardiovascular Abnormalities/epidemiology , Folic Acid Deficiency/complications , Nervous System Malformations/etiology , Nervous System Malformations/epidemiology
Rev. Col. Méd. Cir. Guatem ; 156(2): 54-60, nov. 2017. graf
Article in Spanish | LILACS | ID: biblio-986501


Antecedentes: Las anomalías del tubo neural son frecuentes en Guatemala. Una mayor frecuencia se observa en el antiplano guatemalteco, con mayor concentración de población indígena y con mayor depauperación económica. Observaciones de especialistas indican que en el primer semestre del año son mucho más frecuentes que en el segundo. Estas observaciones señalan que algo existe en el ambiente, probablemente en el ambiente alimentario, relacionado con el consumo de maíz, base dietética del guatemalteco. En el grano de este cereal, existe, fumomisinas (micotoxinas producidas por hongos) en gran cantidad, que tienen un efecto inhibidor de la captación celular de ácido fólico, micronutriente íntimamente relacionado con el cierre temprano del tubo neural. Objetivo: Demostrar si es cierto que existe mayor frecuencia de anomalías del tubo neural en Guatemala en el primer semestre del año que en el segundo, principalmente en los denominados meses de verano. Sugerir hipótesis futuras que expliquen este comportamiento epidemiológico. Metodología: Estudio descriptivo-analítico retrospectivo en la Unidad de Espina Bífida del Hospital General San Juan de Dios y en las 8 áreas geoeconómicas de Guatemala, analizando una sola variable: La fecha de nacimiento de niños y niñas que presentaron anomalías del tubo neural de diferente tipo. Resultados: Se demuestra que en efecto las anomalías del tubo neural son más frecuentes en el primer semestre del año que en el segundo. Principalmente en los meses de marzo-abril. Y que ocurren con menos frecuencia en el segundo semestre. Estos datos se podrían vincular con el consumo dietético de maíz, grano que también tiene diferencias estacionales en cuanto a su producción, almacenamiento, preparación y consumo (AU)

Humans , Male , Female , Infant, Newborn , Spinal Dysraphism/complications , Fumonisins/adverse effects , Malnutrition/complications , Indigenous Peoples , Folic Acid Deficiency/diagnosis , Nervous System Malformations/complications , Neural Tube Defects/epidemiology , Epidemiology, Descriptive , Guatemala/epidemiology
Rev. medica electron ; 39(5): 1107-1116, set.-oct. 2017.
Article in Spanish | LILACS, CUMED | ID: biblio-902233


Se revisó la literatura existente sobre la Malformación de Chiari Tipo I en el adulto, haciendo énfasis en su diagnóstico imagenológico y tratamiento médico-quirúrgico. La malformación de Chiari es una enfermedad poco frecuente. Representa entre el 1 y el 4% de todas las patologías neuroquirúrgicas. El diagnóstico se realiza meses y hasta años después de comenzada la sintomatología y se confirma en el 100% de los casos con Resonancia magnética de cráneo. El tratamiento es quirúrgico en los pacientes sintomáticos, siendo controversial en aquellos oligosintomáticos o con diagnóstico casual. La cirugía siempre debe realizarse con el apoyo de monitoreo neurofisiológico, que puede ser determinante en la técnica quirúrgica a emplear. La mortalidad asociada a la cirugía es muy baja, oscilando entre el 0 y 0,5% según la mayoría de las series. Lo más importante es la selec­ción de los pacientes para el tratamiento quirúrgico. No debe asumirse una actitud expectante en espera de un deterioro neurológico que justifique la cirugía, cuando ésta se hace a tiempo los resultados son mejores y con un mínimo de complicaciones (AU).

The aim of this article is reviewing the existent literature on Type I Chiari malformation in adults and making emphasis in its imaging diagnosis and medico-surgical treatment. Chiari malformation is a few frequent diseases. It represents 1-4 % of all the neurosurgical diseases. The diagnosis is made months and even years after the beginning of the symptoms and it is confirmed by cranial magnetic resonance in the 100 % of the cases. The treatment is surgical in symptomatic patients, and it is controversial in the oligosymptomatic ones and in those with casual diagnosis. The surgery should be performed with the support of neurophysiological monitoring that might be determinant in the surgical technique to use. The mortality associated to the surgery is low, ranging from 0 and 0.5 % according to most of the series. The most important thing is the choice of the patients for the surgical treatment. The neurological deterioration should not be expected to justify the surgery; when the surgery is carried out on time the results are better and with the minimum of complications (AU).

Humans , Male , Female , Adult , Nervous System Malformations/surgery , Arnold-Chiari Malformation/surgery , Arnold-Chiari Malformation/complications , Arnold-Chiari Malformation/diagnosis , Syringomyelia/complications , Syringomyelia/diagnosis , Review Literature as Topic , Nervous System Malformations/complications , Nervous System Malformations/pathology , Nervous System Malformations/epidemiology , Nervous System Malformations/diagnostic imaging
Acta pediátr. hondu ; 8(2): 810-818, oct. 2017-mar. 2018. tab
Article in Spanish | LILACS | ID: biblio-1015028


Las convulsiones febriles (CF) son el trastor-no convulsivo más frecuente en la niñez y motivo común de consulta en los departa-mentos de emergencia. Son eventos críticos que coinciden con procesos febriles, en niños de 6 a 60 meses, sin infección del SNC, trastornos metabólicos, ni anomalías neurológicas previas. Estos trastornos son de carácter benigno y autolimitado, sin secuelas neurológicas a largo plazo. La prevalencia de CF es de aproximadamente 2 - 5 %, se ha descrito una mayor incidencia en varones en un 60%, con una relación 2:1. Los niños con antecedentes familiares en primer grado con CF, tienen un riesgo de 4-5 veces más alto que la población general de presentar CF, a pesar de esto algunos casos son esporádicos, lo que sugiere que elemen-tos genéticos y ambientales influyen en su aparición. El diagnóstico es fundamental-mente clínico, los exámenes complementa-rios deben reservarse para casos específi-cos y descartar otras patologías. El trata-miento únicamente está indicado en el manejo de las crisis agudas persistentes...(AU)

Humans , Child , Seizures, Febrile/diagnosis , Metabolic Syndrome , Databases, Bibliographic , Nervous System Malformations/complications
Rev. ecuat. pediatr ; 17(2): 30-31, 12-2016.
Article in Spanish | LILACS | ID: biblio-996581


Las enfermedades intrauterinas representan una carga importante de morbilidad para el recién nacido como es la infección por Herpes simple, al adquirir este tipo de infección puede traer diversas afecciones del sistema nervioso central. El diagnóstico diferencial de las calcificaciones en el cerebro no siempre es fácil, existen múltiples causas que pueden originar calcificaciones intracraneales, dentro de ellas causas fisiológicas congénitas, infecciosas, metabólica, vasculares y por neoplasias. Con alta mortalidad y morbilidad, la incidencia varia de 1/3.000 a 1/20.000 nacimientos. Se requiere de una sospecha clínica precoz para establecer un tratamiento adecuado, presentamos un caso de una recién nacida de 21 días de vida que presenta un cuadro febril cuyo diagnóstico fue confirmado por la técnica de reacción de la polimerasa en cadena, la misma certifico la presencia del virus del herpes simple tipo 1 en liquido céfalo raquídeo, además evidencia de calcificaciones intracraneales en tomografía axial computarizada.

Intrauterina diseases represent an important burden of morbidity for the newborn as is the infection with Herpes simplex, when aquiring this type of infeccion can bring diverse affections of the central nervous system.The differential diagnosis of calcifications in the brain is not always easy, there are multiple causes that can causse intracranial calcifications,within them congenital,infectious,metabolic,vascular and neoplastic,vascular and neoplastic causes,with high mortality and morbidity, the incidence varies from 1/3000 to 1 /20.000 briths,Early clinical suspicion is required to establish an adequate treatment,we present a case of a newborn of 21 days of life that presents a febrile condition whose diagnosis was confirmed by the polymerase chain reaction technique,it certifies the presence of herpes simplex virus type 1 in cerebrospinal fluid,in addition to evidence of intracranial calcifications in computed tomography.

Humans , Female , Infant, Newborn , Acyclovir , Tomography, X-Ray Computed , Herpesvirus 1, Human , Nervous System Malformations , Congenital Abnormalities , Cerebrospinal Fluid , Herpes Simplex
Rev. argent. neurocir ; 30(2): 81-85, jun. 2016. ilus
Article in Spanish | LILACS | ID: biblio-835761


Introducción: Los aneurismas asociados a malformaciones arteriovenosas (MAV) son lesiones vasculares que suelen encontrarse hasta en el 15% de los casos, incrementando el riesgo global de hemorragia. La conducta frente a los aneurismas asociados es dicotómica en la literatura, mientras existen reportes de la desaparición de los mismos luego de la exéresis de la MAV, otros artículos enfatizan su tratamiento precoz. El síndrome del acento extranjero es un raro trastorno neurológico en el que el paciente habla su lengua materna como lo haría una persona extranjera y suena con “acento” extranjero a oídos de los oyentes nativos. Objetivo: Presentar un paciente que desarrolla el síndrome del acento extranjero posterior a la exéresis de una MAV y la evolución de un aneurisma asociado. Presentación de caso: Paciente pediátrico que luego de la exéresis de una MAV fronto-opercular posterior izquierda remite por completo un aneurisma de hiperflujo asociado, presentando en el postquirúrgico el síndrome del acento extranjero.Conclusión: Queda reportado el caso de este raro síndrome y la resolución espontánea de un aneurisma proximal luego de la exéresis de una MAV.

Introduction: The aneurysms associated with arteriovenous malformations (AVM) are vascular lesions that are usually found in up to 15% of cases, increasing the overall risk of bleeding. The behavior against associated aneurysms is dichotomous while there are reports of the disappearance of the same after the removal of the AVM, other items emphasize early treatment. Foreign accent syndrome is a rare neurological disorder in which the patient speaks his mother language as you would a foreigner and sounds with foreign "accent" to native listeners.Objective: To report a patient who developed foreign accent syndrome after excision of an AVM and the evolution of an associated aneurysm.Case presentation: pediatric patient that after a resection of fronto-opercular AVM refers back completely on an aneurysm associated hyper flow, presenting postsurgical foreign accent syndrome.Conclusion: the case of this rare syndrome and spontaneous resolution of a proximal aneurysm after excision of an AVM is hereby reported.

Humans , Intracranial Aneurysm , Nervous System Malformations
Acta ortop. bras ; 24(2): 94-97, Mar.-Apr. 2016. graf
Article in English | LILACS | ID: lil-775083


Objetivo: A finalidade deste trabalho foi apresentar a incidência,origem, curso e ralações anatômicas da anastomose intramuscular de Martin-Gruber. Método: Foram dissecados 100 antebraços de 50cadáveres adultos. A comunicação nervosa intramuscular entre os nervos mediano e ulnar no antebraço (anastomose de Martin-Gruber)foi registrada em cinco antebraços, três no antímero direito e duasno esquerdo, sendo uma bilateral. Todas as comunicações nervosas localizavam-se entre os nervos interósseo anterior e o nervo ulnar.Conclusão: As comunicações nervosas intramusculares, que registramos em 5% dos 100 membros dissecados, tem apenas a finalidade de suprir o músculo flexor profundo dos dedos, sendo pouco provável que tenham alguma influência na inervação dos músculos intrínsecos da mão. Nível de Evidência IV, Série de Casos.

Objective: This paper reports the incidence, origin, courseand anatomical relationships of intramuscular Martin-Gruberanastomosis. Methods: Anatomical dissection of 100 limbsfrom 50 adults cadavers was performed. The intramuscularMartin-Gruber anastomosis was found in five forearms, threein the right and two in the left side, one was bilateral. All communicationwere located between the anterior interosseousnerve and the ulnar nerve. Conclusion: The purpose of intramuscularMartin-Gruber anastomosis, which we found in 5%of dissected limbs, is to supply the flexor digitorum profundusmuscle and it is unlikely to have any influence on the innervationof the intrinsic muscles of the hand. Level of Evidence IV,Cases Series.

Male , Female , Arteriovenous Anastomosis , Cadaver , Dissection , Forearm , Median Nerve , Hand/innervation , Nervous System Malformations , Ulnar Nerve
Philippine Journal of Internal Medicine ; : 1-4, 2016.
Article in English | WPRIM | ID: wpr-633461


INTRODUCTION: Dysgenesis of the corpus callosum is a brain abnormality  involving  the  large  nerve  fibers  connecting  the  two  hemispheres  of  the  brain.  The  corpus  callosum  connects  the  left  and  right  cerebral  hemispheres  and  facilitates  interhemispheric  communication.  When it is malformed, these functions might be affected. CLINICAL PRESENTATION: This case report documents a patient with a malformed corpus callosum. She came in for first-onset generalized tonic clonic seizures. As part of a routine workup  for  patients  with  first-onset  seizures,a computed tomography (CT) scan of the brain was done. It revealed dysgenesis  of  the  corpus  callosum.  She  was  started on valproic acid and was discharged improved. CONCLUSION: Callosal disorders  usually present with some degree of neurologic impairment. The index case however has  no  detectable  neurologic  deficits  and  is  apparently normal.  The  rarity  of  a  dysgenetic  corpus  callosum mandates more epidemiological studies to further elucidate this disease.

Humans , Female , Adult , Corpus Callosum , Seizures , Valproic Acid , Agenesis of Corpus Callosum , Brain Diseases , Nervous System Malformations , Brain , Cerebrum , Nerve Fibers , Epidemiologic Studies