RESUMO
BACKGROUND: Preterm birth is associated with increased infant mortality. However, it is not clear whether prematurity is associated with mortality after 1 year of age. There is a lack of research on mortality rate and causes of death after infancy in preterm babies in Korea. We aimed to analyze the mortality rates and causes of deaths up to 5 years of age in Korea. METHODS: Using the Microdata Integrated Service of Statistics Korea database, this retrospective cohort study screened infants born between 2010 and 2012. After applying the exclusion criteria, 1,422,913 live births were classified into the following groups by gestational age: those born at < 32 weeks' gestation (n = 10,411), those born between 32 and 36 weeks' gestation (n = 75,657), and those born at ≥ 37 weeks' gestation (n = 1,336,845). The association of gestational age with mortality in infancy (< 1 year of age) and childhood (1-5 years of age) was analyzed, with and without covariates. The major causes of death in infancy and childhood were analyzed by gestational age. RESULTS: Overall, 4,930 (0.3%) children died between birth and 5 years of age, with 19.1% of these deaths occurring after infancy. Adjusted hazard ratios (HRs) for infant death were 78.79 (95% confidence interval [CI], 71.33-87.04) and 4.62 (95% CI, 4.07-5.24) for the < 32 and 32-36 weeks groups, respectively, compared to the full-term group; the adjusted HRs for deaths occurring at ages 1-5 years were 9.25 (95% CI, 6.85-12.50) and 2.42 (95% CI, 1.95-3.01), respectively. In infancy, conditions originating in the perinatal period were the most common cause of deaths in the < 32 and 32-36 weeks groups (88.7% and 41.9%, respectively). Contrarily, in the ≥ 37 weeks group, conditions originating in the perinatal period explained 22.7% of infant deaths, with congenital malformations primarily accounting for 29.6% of these deaths. The most common cause of death in children (after infancy) in the < 32 weeks group was perinatal causes (25.0%); in the 32-36 weeks group, congenital malformation and nervous system disease were the common causes (21.7% and 19.1%, respectively). In the ≥ 37 weeks group, injury, poisoning, and other consequences of external causes explained 26.6% of childhood deaths, followed by neoplasms and nervous system disease (15.7% and 14.7%, respectively). CONCLUSION: Low gestational age is associated with not only infant mortality but also child mortality. The major causes of death differed by gestational age in infancy and childhood. For the care of preterm infants, especially those born at < 32 weeks' gestation, particular attention and continuous monitoring are needed in consideration of the major causes of deaths until 5 years of age.
Assuntos
Causas de Morte , Mortalidade da Criança , Mortalidade Infantil , Peso ao Nascer , Pré-Escolar , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/patologia , Nascimento Prematuro/mortalidade , Modelos de Riscos Proporcionais , República da Coreia , Estudos RetrospectivosRESUMO
BACKGROUND: This study aimed to describe the perinatal outcome and central nervous system (CNS) anomalies in fetuses undergoing red blood cell (RBC) intrauterine transfusion (IUT). METHODS AND MATERIALS: This was an observational single-cohort study carried out at Vall d'Hebron University Hospital in Barcelona, Spain, between 2002 and 2018 in women undergoing RBC IUT for suspected fetal anemia. Primary outcomes were adverse perinatal outcome (intrauterine or neonatal death and termination of pregnancy [TOP]), prenatal or postnatal CNS anomalies, and significant neurological impairment. RESULTS: A total of 145 RBC transfusions were performed in 68 pregnancies of 60 women. The median gestational age for the first transfusion was 26 weeks (range, 18-32). Twenty-two (32%) fetuses were hydropic at the first transfusion. Fifty-eight pregnancies (85.3%) resulted in live births and 10 (14.7%) in adverse perinatal outcomes. Adverse perinatal outcomes were associated with hydrops (odds ratio [OR], 6.69; 95% confidence interval [CI], 1.53-29.23; P = .012) and gestational age at first transfusion (OR, 0.69; 95% CI, 0.54-0.89; P = .04). Four (5.9%) cases of cerebellar hemorrhage were diagnosed prenatally. In 14 (35%) of the 41 neonates undergoing brain ultrasound and/or magnetic resonance imaging (MRI) abnormalities were reported. The median follow-up was 6.5 years (range, 3 months to 19 years). Significant neurological impairment was reported in two cases (4.2%). CONCLUSION: In fetuses undergoing intrauterine RBC transfusion, the survival rate is high, particularly in the absence of hydrops and if the gestational age at first transfusion is above 22 weeks. Significant neurological impairment is uncommon, despite the fact that postnatal CNS anomalies at ultrasound or MRI are frequent.
Assuntos
Anemia , Transfusão de Sangue Intrauterina/efeitos adversos , Transfusão de Eritrócitos/efeitos adversos , Doenças Fetais , Malformações do Sistema Nervoso , Reação Transfusional/mortalidade , Adolescente , Adulto , Anemia/mortalidade , Anemia/terapia , Feminino , Doenças Fetais/mortalidade , Doenças Fetais/terapia , Idade Gestacional , Humanos , Malformações do Sistema Nervoso/etiologia , Malformações do Sistema Nervoso/mortalidade , Gravidez , Estudos Retrospectivos , Centros de Atenção TerciáriaRESUMO
Objectives: To find out the outcome of fetal ventriculomegaly (VM) in terms of survival at birth and after two years and to evaluate the antenatal factors which influence the postnatal outcome.Method: We performed a 10-year prospective, observational study (2008-2018) including all prenatally detected fetal VM. Two years follow up of all live born was done to observe their survival, physical morbidity, and developmental delay.Results: Fetal VM was seen in 263/648 (40.6%) cases with central nervous system malformation. VM was severe in 85.9% and was associated with other anomalies in 56.3% of the cases. Total 40.3% cases with VM were live born. The outcome at birth and was poorest with severe VM (40.7%) and when VM was associated with multiple defects (30%). Only 23.6% survived beyond two years of age. There was developmental delay in 24.2% cases. Logistic regression showed that, the presence of associated defect and severe VM were significant poor prognostic factors for survival at birth (p = .001) and after two years of age (p = .002).Conclusions: In a low resource setup the problems associated with fetal VM were compounded by late referral. The knowledge of the outcome in existing setup provides data for realistic counselling to the couple.
Assuntos
Malformações do Sistema Nervoso/mortalidade , Anormalidades Múltiplas/mortalidade , Adulto , Pré-Escolar , Estudos Transversais , Feminino , Idade Gestacional , Humanos , Índia , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/fisiopatologia , Gravidez , Estudos Prospectivos , Índice de Gravidade de Doença , Natimorto/epidemiologia , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Most deaths of comatose survivors of out-of-hospital sudden cardiac arrest result from withdrawal of life-sustaining treatment (WLST) decisions based on poor neurological prognostication and the family's intention. Thus, accurate prognostication is crucial to avoid premature WLST decisions. However, targeted temperature management (TTM) with sedation or neuromuscular blockade against shivering significantly affects early prognostication. In this study, we investigated whether heart rate variability (HRV) analysis could prognosticate poor neurological outcome in comatose patients undergoing hypothermic TTM. METHODS: Between January 2015 and December 2017, adult patients with out-of-hospital sudden cardiac arrest, successfully resuscitated in the emergency department and admitted to the intensive care unit of the Niigata University in Japan, were prospectively included. All patients had an initial Glasgow Coma Scale motor score of 1 and received hypothermic TTM (at 34 °C). Twenty HRV-related variables (deceleration capacity; 4 time-, 3 geometric-, and 7 frequency-domain; and 5 complexity variables) were computed based on RR intervals between 0:00 and 8:00 am within 24 h after return of spontaneous circulation (ROSC). Based on Glasgow Outcome Scale (GOS) at 2 weeks after ROSC, patients were divided into good outcome (GOS 1-2) and poor outcome (GOS 3-5) groups. RESULTS: Seventy-six patients were recruited and allocated to the good (n = 22) or poor (n = 54) outcome groups. Of the 20 HRV-related variables, ln very-low frequency (ln VLF) power, detrended fluctuation analysis (DFA) (α1), and multiscale entropy (MSE) index significantly differed between the groups (p = 0.001), with a statistically significant odds ratio (OR) by univariate logistic regression analysis (p = 0.001). Multivariate logistic regression analysis of the 3 variables identified ln VLF power and DFA (α1) as significant predictors for poor outcome (OR = 0.436, p = 0.006 and OR = 0.709, p = 0.024, respectively). The area under the receiver operating characteristic curve for ln VLF power and DFA (α1) in predicting poor outcome was 0.84 and 0.82, respectively. In addition, the minimum value of ln VLF power or DFA (α1) for the good outcome group predicted poor outcome with sensitivity = 61% and specificity = 100%. CONCLUSIONS: The present data indicate that HRV analysis could be useful for prognostication for comatose patients during hypothermic TTM.
Assuntos
Determinação da Frequência Cardíaca/métodos , Malformações do Sistema Nervoso/etiologia , Parada Cardíaca Extra-Hospitalar/complicações , Parada Cardíaca Extra-Hospitalar/mortalidade , Prognóstico , Adulto , Idoso , Área Sob a Curva , Feminino , Escala de Resultado de Glasgow , Determinação da Frequência Cardíaca/instrumentação , Humanos , Japão/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/fisiopatologia , Parada Cardíaca Extra-Hospitalar/epidemiologia , Estudos Prospectivos , Curva ROC , Estatísticas não Paramétricas , Fatores de TempoAssuntos
Humanos , Educação Sexual , Planos e Programas de Saúde , Fatores de Risco , Comportamento Reprodutivo , Genética , Malformações do Sistema Nervoso/etiologia , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/prevenção & controle , Malformações do Sistema Nervoso/epidemiologia , Qualidade de Vida , Reabilitação , Disrafismo Espinal/diagnóstico , Disrafismo Espinal/epidemiologia , Encefalocele/diagnóstico , Encefalocele/epidemiologia , Aconselhamento Genético , Hidrocefalia/diagnóstico , Hidrocefalia/epidemiologia , Anencefalia/diagnóstico , Anencefalia/epidemiologiaRESUMO
BACKGROUND: Children with complex medical needs (CMN) are high healthcare resource utilizers, have varying underlying diagnoses, and experience repeated hospitalizations. Outcomes on neonatal intensive care (NICU) patients with CMN are unknown. PURPOSE: The primary aim is to describe the clinical profile, resource use, prevalence, and both in-hospital and postdischarge outcomes of neonates with CMN. The secondary aim is to assess the feasibility of sustaining the use of the neonatal complex care team (NCCT). METHODS: A retrospective cohort study was conducted after implementing a new model of care for neonates with CMN in the NICU. All neonates born between January 2013 and December 2016 and who met the criteria for CMN and were cared for by the NCCT were included. RESULTS: One hundred forty-seven neonates with a mean (standard deviation) gestational age of 34 (5) weeks were included. The major underlying diagnoses were genetic/chromosomal abnormalities (48%), extreme prematurity (26%), neurological abnormality (12%), and congenital anomalies (11%). Interventions received included mechanical ventilation (69%), parenteral nutrition (68%), and technology dependency at discharge (91%). Mortality was 3% before discharge and 17% after discharge. Postdischarge hospital attendances included emergency department visits (44%) and inpatient admissions (58%), which involved pediatric intensive care unit admissions (26%). IMPLICATIONS FOR PRACTICE: Neonates with CMN have multiple comorbidities, high resource needs, significant postdischarge mortality, and rehospitalization rates. These cohorts of NICU patients can be identified early during their NICU course and serve as targets for implementing innovative care models to meet their unique needs. IMPLICATIONS FOR RESEARCH: Future studies should explore the feasibility of implementing innovative care models and their potential impact on patient outcomes and cost-effectiveness.
Assuntos
Anormalidades Congênitas , Lactente Extremamente Prematuro , Terapia Intensiva Neonatal , Malformações do Sistema Nervoso , Alta do Paciente/estatística & dados numéricos , Colúmbia Britânica/epidemiologia , Estudos de Coortes , Comorbidade , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/genética , Anormalidades Congênitas/mortalidade , Anormalidades Congênitas/terapia , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido , Terapia Intensiva Neonatal/métodos , Terapia Intensiva Neonatal/estatística & dados numéricos , Malformações do Sistema Nervoso/epidemiologia , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/terapia , Avaliação de Resultados em Cuidados de Saúde , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Breast cancer is the second leading cause of cancer-related deaths in the United States, with the majority of these deaths due to metastatic lesions rather than the primary tumor. Thus, a better understanding of the etiology of metastatic disease is crucial for improving survival. Using a haplotype mapping strategy in mouse and shRNA-mediated gene knockdown, we identified Rnaseh2c, a scaffolding protein of the heterotrimeric RNase H2 endoribonuclease complex, as a novel metastasis susceptibility factor. We found that the role of Rnaseh2c in metastatic disease is independent of RNase H2 enzymatic activity, and immunophenotyping and RNA-sequencing analysis revealed engagement of the T cell-mediated adaptive immune response. Furthermore, the cGAS-Sting pathway was not activated in the metastatic cancer cells used in this study, suggesting that the mechanism of immune response in breast cancer is different from the mechanism proposed for Aicardi-Goutières Syndrome, a rare interferonopathy caused by RNase H2 mutation. These results suggest an important novel, non-enzymatic role for RNASEH2C during breast cancer progression and add Rnaseh2c to a panel of genes we have identified that together could determine patients with high risk for metastasis. These results also highlight a potential new target for combination with immunotherapies and may contribute to a better understanding of the etiology of Aicardi-Goutières Syndrome autoimmunity.
Assuntos
Imunidade Adaptativa , Doenças Autoimunes do Sistema Nervoso/genética , Neoplasias da Mama/genética , Regulação Neoplásica da Expressão Gênica , Neoplasias Pulmonares/genética , Proteínas de Neoplasias/genética , Malformações do Sistema Nervoso/genética , Ribonuclease H/genética , Animais , Doenças Autoimunes do Sistema Nervoso/imunologia , Doenças Autoimunes do Sistema Nervoso/mortalidade , Doenças Autoimunes do Sistema Nervoso/patologia , Neoplasias da Mama/imunologia , Neoplasias da Mama/mortalidade , Neoplasias da Mama/patologia , Linhagem Celular Tumoral , Proliferação de Células , Modelos Animais de Doenças , Feminino , Predisposição Genética para Doença , Humanos , Neoplasias Pulmonares/imunologia , Neoplasias Pulmonares/mortalidade , Neoplasias Pulmonares/secundário , Metástase Linfática , Camundongos , Camundongos Nus , Mutação , Proteínas de Neoplasias/antagonistas & inibidores , Proteínas de Neoplasias/imunologia , Malformações do Sistema Nervoso/imunologia , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/patologia , RNA Interferente Pequeno/genética , RNA Interferente Pequeno/imunologia , Ribonuclease H/antagonistas & inibidores , Ribonuclease H/imunologia , Análise de Sequência de RNA , Transdução de Sinais , Análise de Sobrevida , Linfócitos T/imunologia , Linfócitos T/patologiaRESUMO
BACKGROUND: In French Guiana, pregnant women may be exposed to infectious, environmental, and social risks leading to congenital malformation. The objective of the study was to study mortality rates from congenital malformations among infants < 1 year and to compare them with those in mainland France. METHODS: We used the CEPI DC (INSERM) database, which compiles annual data from death certificates in all French territories using the International Classification of Diseases. Annual deaths for French Guiana and mainland France between 2005 and 2015 were compiled. The age category studied was children less than 1 year and deaths from congenital malformations, deformations and chromosomal abnormalities were compiled. Crude risk ratios and 95% confidence intervals were calculated to quantify the excess risk of disease in French Guiana. RESULTS: In French Guiana between 2005 and 2015 there were 666 deaths of children aged < 1 year, among which, 132 (19.8%) were due to congenital malformations and chromosomal anomalies. Overall the risk ratio of death from congenital malformations and chromosomal anomalies between French Guiana and mainland France was 2.7 (1.5-4.7), P < 0.001 for neurological congenital malformations it was 4.8 (1.2-19.7), P = 0.01 and for congenital malformations of the circulatory system it was 3.3 (1.5-6.9), P = 0.001. CONCLUSIONS: The incidence of death from congenital malformations or chromosomal anomalies in French Guiana was significantly higher than in mainland France. Explanations for this may be infections, genetic causes, nutritional causes, and toxic causes that are prevalent. There is a need to identify factors that predispose children born in French Guiana to having a higher risk of congenital malformations and chromosomal anomalies.
Assuntos
Anormalidades Congênitas/mortalidade , Anormalidades Cardiovasculares/mortalidade , Transtornos Cromossômicos/mortalidade , Feminino , França/epidemiologia , Guiana Francesa/epidemiologia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Malformações do Sistema Nervoso/mortalidadeAssuntos
Agenesia do Corpo Caloso/genética , Catarata/genética , Malformações do Sistema Nervoso/genética , Proteínas/genética , Idade de Início , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/mortalidade , Agenesia do Corpo Caloso/fisiopatologia , Proteínas Relacionadas à Autofagia , Autopsia , Catarata/diagnóstico por imagem , Catarata/mortalidade , Catarata/fisiopatologia , Feminino , Feto , Humanos , Proteínas de Membrana Lisossomal , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/fisiopatologia , Gravidez , Segundo Trimestre da Gravidez , Irmãos , Proteínas de Transporte VesicularRESUMO
We describe the case of a young patient with calcifying encephalopathy, born to asymptomatic parents. An extensive hypothesis-driven etiological assessment was performed and failed to detect the precise etiology during many years. We therefore decided to perform whole exome sequencing of the child-unaffected parents trio. A de novo pathogenic variant in the IFIH1 gene which has recently been shown to cause autosomal dominant forms of Aicardi-Goutières syndrome was identified. This child presented with a severe form with neonatal thrombocytopenia and hepatomegaly, the latter having been detected during late gestation. Although first milestones were uneventful, he progressively lost motor skills from the age of 12 months and developed severe spastic paraplegia. Brain imaging revealed white matter abnormalities and extensive calcifications. He also presented atypical skin lesions, different from chilblains. His medical history was marked by two episodes of acute pancreatitis. We provide herein the results of pathological examination including detailed description of the neuropathological hallmarks. To our knowledge, this the first detailed clinico-pathological description of a patient with an IFIH1 pathogenic variant.
Assuntos
Doenças Autoimunes do Sistema Nervoso/genética , Encefalopatias/genética , Helicase IFIH1 Induzida por Interferon/genética , Malformações do Sistema Nervoso/genética , Paraplegia/genética , Adolescente , Doenças Autoimunes do Sistema Nervoso/mortalidade , Doenças Autoimunes do Sistema Nervoso/fisiopatologia , Encefalopatias/mortalidade , Encefalopatias/fisiopatologia , Humanos , Recém-Nascido , Masculino , Mutação , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/fisiopatologia , Paraplegia/mortalidade , Paraplegia/fisiopatologiaRESUMO
Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection, triggering an autoimmune response with an increase in cerebral IFN-α production by astrocytes. Microangiopathy and vascular disease also contribute to the neuropathology in AGS. In this study, we report that AGS gene silencing of TREX1, SAMHD1, RNASEH2A, and ADAR1 by short hairpin RNAs in human neural stem cell-derived astrocytes, human primary astrocytes, and brain-derived endothelial cells leads to an antiviral status of these cells compared with nontarget short hairpin RNA-treated cells. We observed a distinct activation of the IFN-stimulated gene signature with a substantial increase in the release of proinflammatory cytokines (IL-6) and chemokines (CXCL10 and CCL5). A differential impact of AGS gene silencing was noted; silencing TREX1 gave rise to the most dramatic in both cell types. Our findings fit well with the observation that patients carrying mutations in TREX1 experience an earlier onset and fatal outcome. We provide in the present study, to our knowledge for the first time, insight into how astrocytic and endothelial activation of antiviral status may differentially lead to cerebral pathology, suggesting a rational link between proinflammatory mediators and disease severity in AGS.
Assuntos
Astrócitos/imunologia , Doenças Autoimunes do Sistema Nervoso/imunologia , Citocinas/imunologia , Células Endoteliais/imunologia , Interferon-alfa/imunologia , Malformações do Sistema Nervoso/imunologia , Células-Tronco Neurais/imunologia , Adenosina Desaminase/genética , Adenosina Desaminase/imunologia , Astrócitos/patologia , Doenças Autoimunes do Sistema Nervoso/genética , Doenças Autoimunes do Sistema Nervoso/mortalidade , Doenças Autoimunes do Sistema Nervoso/patologia , Citocinas/genética , Células Endoteliais/patologia , Exodesoxirribonucleases/genética , Exodesoxirribonucleases/imunologia , Inativação Gênica , Células HEK293 , Humanos , Interferon-alfa/genética , Proteínas Monoméricas de Ligação ao GTP/genética , Proteínas Monoméricas de Ligação ao GTP/imunologia , Mutação , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/patologia , Células-Tronco Neurais/patologia , Fosfoproteínas/genética , Fosfoproteínas/imunologia , Proteínas de Ligação a RNA/genética , Proteínas de Ligação a RNA/imunologia , Ribonuclease H/genética , Ribonuclease H/imunologia , Proteína 1 com Domínio SAM e Domínio HDRESUMO
BACKGROUND: Exomphalos occurs in 2.2 per 10,000 births with 76% of these babies surviving to discharge. The aim of this study was to determine the birth prevalence and survival of babies with this anomaly in England and Wales. METHODS: Six BINOCAR regional congenital anomaly registers in England and Wales (covering 36% of births) between 2005 and 2011 provided cases for this study. Cases included live births, stillbirths (24+ weeks' gestation), late miscarriages (20-23 weeks' gestation), and terminations of pregnancy with fetal anomaly. RESULTS: The overall birth prevalence was 3.8 (95% confidence interval [CI]: 3.6-4.0) per 10,000 births; 1.4 (1.2-1.6) for isolated cases, 1.2 (1.1-1.4) for cases with multiple anomalies, and 1.2 (1.1-1.4) for cases with chromosomal anomalies. The live birth prevalence was 0.8 (0.7-0.9), 0.5 (0.4-0.6), and 0.1 (0.0-0.1) per 10,000 live births, respectively. Edwards syndrome, congenital heart defects, and nervous system anomalies were the most common anomalies associated with exomphalos. A prenatal diagnosis was made in 83% of isolated, 95% of multiple, and 99% of chromosomal cases. Fifty-five percent of isolated and multiple cases were live born, whereas 85% of cases with chromosomal anomalies resulted in a termination of pregnancy with fetal anomaly. The 1-year survival of live born babies with an isolated exomphalos was 92% compared with 81% in cases with multiple anomalies and 27% in cases with chromosomal anomalies (p < 0.001). CONCLUSION: We report a higher birth prevalence than has previously been reported. The proportion of infants surviving with exomphalos remained unchanged over the time period.
Assuntos
Aborto Espontâneo/epidemiologia , Aberrações Cromossômicas , Cardiopatias Congênitas/epidemiologia , Hérnia Umbilical/epidemiologia , Malformações do Sistema Nervoso/epidemiologia , Trissomia/diagnóstico , Aborto Eugênico/estatística & dados numéricos , Aborto Espontâneo/mortalidade , Adolescente , Adulto , Cromossomos Humanos Par 18/genética , Inglaterra/epidemiologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/mortalidade , Hérnia Umbilical/complicações , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/mortalidade , Humanos , Nascido Vivo , Masculino , Pessoa de Meia-Idade , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/mortalidade , Gravidez , Diagnóstico Pré-Natal , Prevalência , Sistema de Registros , Natimorto , Análise de Sobrevida , Trissomia/genética , Síndrome da Trissomía do Cromossomo 18 , País de Gales/epidemiologiaRESUMO
PURPOSE: We evaluated the postnatal outcomes of patients with prenatally diagnosed agenesis of the corpus callosum (ACC), in conjunction with ventriculomegaly, as a tool for parental counseling. MATERIALS AND METHODS: Through a retrospective review of maternal and infant records, we evaluated the postnatal outcomes of 21 patients with prenatally diagnosed ACC and fetal ventriculomegaly. RESULTS: Ten of the 21 patients (48 %) were diagnosed with isolated ACC. Among these 10 patients, neurodevelopmental outcomes were normal in four, uncertain in one, and five demonstrated mild or moderate disabilities. The remaining 11 patients had ACC associated with either central nervous system (CNS) anomalies (7 of 11) or chromosomal abnormalities (4 of 11). The outcomes were estimated in nine of the 11 children; all nine had severe disabilities. The mortality rate of ACC, associated with other anomalies, was 29 % (2 of 7) in children with CNS anomalies and 75 % (3 of 4) for those with chromosomal abnormalities. CONCLUSION: If ACC with fetal ventriculomegaly is associated with other malformations, a poor outcome is highly likely. Although the outcome of isolated ACC with fetal ventriculomegaly was generally better, >50 % of the patients had mild or moderate neurodevelopmental disabilities. These findings provide useful information for parental counseling.
Assuntos
Agenesia do Corpo Caloso/diagnóstico , Ventrículos Cerebrais/anormalidades , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/mortalidade , Criança , Pré-Escolar , Aberrações Cromossômicas , Aconselhamento , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/mortalidade , Pais/psicologia , Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-NatalRESUMO
STUDY DESIGN: Retrospective study of a prospectively assembled cohort. OBJECTIVE: To characterize the survival from subsequent spine surgery and the life survival of patients treated surgically for severe spinal deformity due to neuropathic diseases. SUMMARY OF BACKGROUND DATA: Survivorship analysis is widely used to study the natural history of disease processes and of treatments provided, but has very seldom been used to study patients' course after surgery for spinal deformity associated with neuropathic diseases. METHODS: Patients with neuropathic spinal deformity treated with primary posterior instrumentation and arthrodesis from 1989 through 2002 were identified and studied by review of charts and radiographs, and by mail survey. Subsequent spine surgery and death events, and the time interval from surgery were identified. Fifteen variables possibly influencing survivorship were studied. RESULTS: There were no perioperative deaths, spinal cord injuries, or acute wound infections in the 117 eligible patients. Reoperation and life survival statuses were available for 110 patients (94%) at an average follow-up of 11.89 years (±5.3; range: 2-20.9 yr). Twelve patients (11%) had subsequent spine surgery. Survival from subsequent spine surgery was 91% at 5 years, 90% at 10 and 15 years, and 72% at 20 years. Proximal fixation problems occurred in 4 patients. Twenty-two patients (20%) had died from 4 to 20 years postoperative. Life survival was 98% at 5 years, 89% at 10 years, 81% at 15 years, and 56% at 20 years. The only variable associated with life survival was the occurrence of one or more perioperative complications, P = 0.0032. The younger half of the series at operation (<13.75 yr) was significantly more likely to have one or more perioperative complications, P = 0.0068. Spinal deformity type and magnitude were similar for the younger and older halves of the patients. Life survival of the patients with cerebral-palsy and not-cerebral-palsy upper motor neuron disease was not different. One-hundred-two of 105 were at least satisfied or would have the surgery again for the same condition. CONCLUSION: Survival from subsequent spine operation was similar to adolescent idiopathic scoliosis series studied in the same manner. Life survival decline began at 4 years postoperative and was significantly associated with the occurrence of one or more perioperative complications. Even after successful spine deformity surgery, this population's health status is often precarious.
Assuntos
Doenças do Sistema Nervoso Central/cirurgia , Malformações do Sistema Nervoso/cirurgia , Fusão Vertebral/métodos , Coluna Vertebral/anormalidades , Adolescente , Doenças do Sistema Nervoso Central/mortalidade , Criança , Pré-Escolar , Feminino , Humanos , Complicações Intraoperatórias , Kansas/epidemiologia , Masculino , Malformações do Sistema Nervoso/mortalidade , Complicações Pós-Operatórias , Reoperação , Estudos Retrospectivos , Fatores de Risco , Fusão Vertebral/efeitos adversos , Fusão Vertebral/mortalidade , Taxa de Sobrevida , Adulto JovemRESUMO
The phenotype of neurotrophin-3 (NT-3) null mutant mice is characterized by sensory ataxia and early postnatal death. Previous analysis revealed a severe depletion of peripheral sensory, sympathetic and parasympathetic neurons. Most of the deficits are established early during embryonic development. Whereas absence of proprioceptive afferents can explain the sensory ataxia, the reasons for early postnatal death are unclear. To circumvent the limitations imposed by early mortality of null mutants we generated mouse line expressing NT-3 transgenes driven by the platelet-derived growth factor ß-chain (PDGF-ß) promoter, which is known to be active in neurons and mesenchyme derivatives. Mice carrying one or two PDGF-NT3 transgenes on a background null for wildtype NT-3 were generated by crossing with an NT-3 null strain. Although still ataxic, mice from this cross could survive for periods longer than a year. Histological analysis revealed a limited rescue of muscle spindles and parvalbumin immunoreactive sensory neurons.
Assuntos
Ataxia/genética , Ataxia/metabolismo , Mutação , Fatores de Crescimento Neural/deficiência , Fatores de Crescimento Neural/fisiologia , Fenótipo , Proteínas Proto-Oncogênicas c-sis/fisiologia , Animais , Ataxia/mortalidade , Cruzamentos Genéticos , Modelos Animais de Doenças , Feminino , Masculino , Camundongos , Camundongos Knockout , Camundongos Transgênicos , Fatores de Crescimento Neural/metabolismo , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/metabolismo , Malformações do Sistema Nervoso/mortalidade , Proteínas Proto-Oncogênicas c-sis/genética , Distribuição Aleatória , Taxa de SobrevidaRESUMO
OBJECTIVE: To present a retrospective analysis of the prenatal diagnosis and the outcome of fetuses diagnosed with central nervous system (CNS) anomalies. MATERIALS AND METHODS: We reviewed the medical records and ultrasound data of 69 cases diagnosed with CNS anomalies from 2007 to 2008. We described the prenatal diagnosis, associated findings, and outcome of these patients. RESULTS: Sixty-nine patients were diagnosed with CNS anomalies. Of these, 31 had ventriculomegaly + hydrocephaly, 14 had spina bifida + meningomyelosel, 5 had choroid plexus cyst, 5 had Dandy Walker malformation, 3 had sacrocoxigeal teratoma, 2 had encephalosel, 1 had microcephaly, and 1 had Arnold Chiari malformation. Eight amniocentesis, three cord blood sampling, and two fetal reduction procedure were performed. Nine pregnancy termination and 36 delivery were performed. Neurosurgical correction was performed for neonates with spina bifida, hydrocephaly and sacrocoxigeal teratoma. Twenty-one neonates were discharged with cure, 4 neonates with follow-up, 7 neonates with paraplegia, and 13 neonates died. CONCLUSION: The outcome of fetuses with CNS anomalies was shown to depend mainly on the degree of neural tube defect and the associated anomalies were the most important factors in surviving.
Assuntos
Sistema Nervoso Central/anormalidades , Malformações do Sistema Nervoso/diagnóstico por imagem , Adolescente , Adulto , Sistema Nervoso Central/diagnóstico por imagem , Feminino , Humanos , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/etiologia , Malformações do Sistema Nervoso/complicações , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/mortalidade , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/normas , Ultrassonografia Pré-Natal/estatística & dados numéricos , Adulto JovemRESUMO
OBJECTIVES: to evaluate the additional information of second trimester magnetic resonance imaging (MRI) compared to ultrasound in fetuses with identified or suspected central nervous system (CNS) anomalies and to study the clinical impact of the information on pregnancy management. DESIGN: prospective study during 2004-2007. The fetal MRI examination was planned to be performed within 3 days after the ultrasound. Setting. Uppsala University hospital. MATERIAL: twenty-nine pregnant women in whom second trimester ultrasound identified or suspected fetal CNS anomalies. MAIN OUTCOME MEASURES: evaluation of the additional information gained from MRI and the consequence it had on pregnancy management. RESULTS: the mean interval between ultrasound and MRI was 1.6 days (range 0-7). In 16 fetuses (55%), MRI verified the ultrasound diagnosis but provided no additional information, while in 10 (35%) MRI gave additional information without changing the management. In 3 (10%), MRI provided additional information that changed the management of the pregnancy. Two of these women were obese. CONCLUSIONS: fetal MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when ultrasound is inconclusive due to maternal obesity.
Assuntos
Sistema Nervoso Central/anormalidades , Imageamento por Ressonância Magnética/métodos , Malformações do Sistema Nervoso/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Autopsia , Sistema Nervoso Central/patologia , Estudos de Coortes , Feminino , Mortalidade Fetal , Feto/anormalidades , Humanos , Malformações do Sistema Nervoso/mortalidade , Gravidez , Segundo Trimestre da Gravidez , Estudos Prospectivos , Sensibilidade e Especificidade , Suécia , Ultrassonografia Pré-Natal , Adulto JovemRESUMO
OBJECT: Operation Enduring Freedom (OEF) is the current US military conflict against terrorist elements in Afghanistan. Deepening US involvement in this conflict and increasing coalition casualties prompted the establishment of continuous neurosurgical assets at Craig Joint Theater Hospital (CJTH) at Bagram Airfield, Afghanistan, in September 2007. As part of the military's medical mission, children with battlefield-related injuries and, on a selective case-by-case basis, non-war-related pathological conditions are treated at CJTH. METHODS: A prospectively maintained record was created in which all rotating neurosurgeons at CJTH recorded their personal procedures. From this record, the authors were able to extract all cases involving patients 18 years of age or younger. Variables recorded included: age, sex, and category of patient (for example, local national, enemy combatant), date, indication and description of the neurosurgical procedure, mechanism of injury, and in-hospital morbidity and mortality data. RESULTS: From September 2007 to October 2009, 296 neurosurgical procedures were performed at CJTH. Fifty-seven (19%) were performed in 43 pediatric patients (16 girls and 27 boys) with an average age of 7.5 years (range 11 days-18 years). Thirty-one of the 57 procedures (54%) were for battlefield-related trauma and 26 for humanitarian reasons (46%). The vast majority of cases were cranial (49/57, 86%) compared with spinal (7/54, 13%), with one peripheral nerve case. Craniotomies or craniectomies for penetrating brain injuries were the most common procedures. There were 5 complications (11.6%) and 4 in-hospital deaths (9.3%). CONCLUSIONS: As in previous military conflicts, children are the unfortunate victims of the current Afghanistan campaign. Extremely limited pediatric neurosurgical service and care is rendered under challenging conditions and Air Force neurosurgeons provide valuable, life-saving pediatric treatment for both war-related injuries and humanitarian needs. As the conflict in Afghanistan continues, military neurosurgeons will continue to care for injured children to the best of their abilities.
Assuntos
Campanha Afegã de 2001- , Altruísmo , Lesões Encefálicas/epidemiologia , Lesões Encefálicas/cirurgia , Hospitais Militares/legislação & jurisprudência , Neurocirurgia/estatística & dados numéricos , Pediatria/estatística & dados numéricos , Traumatismos dos Nervos Periféricos , Nervos Periféricos/cirurgia , Traumatismos da Coluna Vertebral/epidemiologia , Traumatismos da Coluna Vertebral/cirurgia , Adolescente , Traumatismos por Explosões/epidemiologia , Traumatismos por Explosões/mortalidade , Traumatismos por Explosões/cirurgia , Lesões Encefálicas/mortalidade , Criança , Pré-Escolar , Craniotomia/estatística & dados numéricos , Estudos Transversais , Feminino , Traumatismos Cranianos Fechados/epidemiologia , Traumatismos Cranianos Fechados/mortalidade , Traumatismos Cranianos Fechados/cirurgia , Mortalidade Hospitalar , Humanos , Lactente , Recém-Nascido , Masculino , Malformações do Sistema Nervoso/epidemiologia , Malformações do Sistema Nervoso/mortalidade , Malformações do Sistema Nervoso/cirurgia , Complicações Pós-Operatórias/mortalidade , Fusão Vertebral/estatística & dados numéricos , Traumatismos da Coluna Vertebral/mortalidade , Ferimentos Penetrantes/epidemiologia , Ferimentos Penetrantes/mortalidade , Ferimentos Penetrantes/cirurgiaRESUMO
BACKGROUND: The objective is to study racial differences in infant mortality attributable to birth defects (IMBD) in the United States. METHODS: We analyzed 1989-1991 and 1995-2002 linked birth/death files for trends and racial differences in IMBD by selected categories of birth defects for infants of non-Hispanic white, non-Hispanic black, and Hispanic mothers. RESULTS: In 1989-2002, the IMBD rates declined. However, the decline in postneonatal mortality attributable to birth defects (PMBD) rate was significantly slower than that of overall postneonatal mortality. The adjusted rate ratio for non-Hispanic black and Hispanic versus non-Hispanic white for neonatal mortality attributable to birth defects (NMBD) remained unchanged from 1989-1991 through 2000-2002. For PMBD, it increased from 0.97 (95% confidence interval [CI], 0.90-1.13) in 1989-1991 to 1.12 (95% CI, 1.04-1.21) in 2001-2002 and from 1.08 (95% CI, 1.00-1.16) to 1.18 (95% CI, 1.10-1.27) for non-Hispanic black and Hispanic, respectively. Infant mortality due to cardiovascular and central nervous system defects were the main contributors to the increased racial disparities in PMBD rates. CONCLUSIONS: The disparity in PMBD between infants of non-Hispanic black and Hispanic mothers and infants of non-Hispanic white mothers increased significantly from 1989-1991 to 2000-2002. Further studies are needed to assess the extent to which delays in care or lack of access to care for infants with birth defects might be contributing to the disparity in IMBD.
Assuntos
Anormalidades Cardiovasculares/etnologia , Anormalidades Cardiovasculares/mortalidade , Etnicidade , Mortalidade Infantil , Malformações do Sistema Nervoso/etnologia , Malformações do Sistema Nervoso/mortalidade , Grupos Raciais , Causas de Morte , Acessibilidade aos Serviços de Saúde , Humanos , Mortalidade Infantil/tendências , Recém-Nascido , Masculino , Estudos Retrospectivos , Estados UnidosRESUMO
Summary highlighted the contribution of birth defects. Over this time there has also been an increasing number of terminations of pregnancy for fetal abnormality. However, the effect of these terminations on mortality rates in Australia has not yet been estimated. The Western Australian Birth Defects Registry (BDR) records all birth defects that are diagnosed in stillbirths, livebirths and in pregnancies terminated because of a fetal abnormality. All cases on the BDR over the period 1980-98 were categorised into one of eight main birth defect groups and analysed in four time periods to show trends. Linkage provided information on deaths to one year of age, defined as perinatal plus postneonatal deaths. The proportion of terminations for fetal abnormality that would have resulted in a death before one year of age was estimated in two ways. The first method used the proportion of births with a birth defect in each diagnostic category that resulted in a death. The second method involved determination of likelihood of survival to one year of all terminations for fetal abnormality through independent review by two experts. Whilst mortality to one year of age for all birth defects has declined from 4.36/1000 births in 1980-84 to 2.75/1000 births in 1995-98, terminations of pregnancies for fetal abnormalities increased from 1.19/1000 births to 4.70/1000 births. After including the estimated mortality associated with terminations for fetal abnormality, the decline in mortality to one year of age associated with birth defects from 1980 to 1998 changed from a 37% reduction to a 15% reduction based on observed mortality 1980-84, and an 11% increase in mortality based on individual case review, highlighting the importance of considering terminations in mortality analyses.