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1.
MMWR Morb Mortal Wkly Rep ; 69(3): 67-71, 2020 Jan 24.
Artigo em Inglês | MEDLINE | ID: mdl-31971935

RESUMO

Zika virus infection during pregnancy can cause congenital brain and eye abnormalities and is associated with neurodevelopmental abnormalities (1-3). In areas of the United States that experienced local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy increased in the second half of 2016 compared with the first half (4). To update the previous report, CDC analyzed population-based surveillance data from 22 states and territories to estimate the prevalence of birth defects potentially related to Zika virus infection, regardless of laboratory evidence of or exposure to Zika virus, among pregnancies completed during January 1, 2016-June 30, 2017. Jurisdictions were categorized as those 1) with widespread local transmission of Zika virus; 2) with limited local transmission of Zika virus; and 3) without local transmission of Zika virus. Among 2,004,630 live births, 3,359 infants and fetuses with birth defects potentially related to Zika virus infection during pregnancy were identified (1.7 per 1,000 live births, 95% confidence interval [CI] = 1.6-1.7). In areas with widespread local Zika virus transmission, the prevalence of birth defects potentially related to Zika virus infection during pregnancy was significantly higher during the quarters comprising July 2016-March 2017 (July-September 2016 = 3.0; October-December 2016 = 4.0; and January-March 2017 = 5.6 per 1,000 live births) compared with the reference period (January-March 2016) (1.3 per 1,000). These findings suggest a fourfold increase (prevalence ratio [PR] = 4.1, 95% CI = 2.1-8.4) in birth defects potentially related to Zika virus in widespread local transmission areas during January-March 2017 compared with that during January-March 2016, with the highest prevalence (7.0 per 1,000 live births) in February 2017. Population-based birth defects surveillance is critical for identifying infants and fetuses with birth defects potentially related to Zika virus regardless of whether Zika virus testing was conducted, especially given the high prevalence of asymptomatic disease. These data can be used to inform follow-up care and services as well as strengthen surveillance.


Assuntos
Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/virologia , Vigilância da População , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Prevalência , Porto Rico/epidemiologia , Estados Unidos/epidemiologia , Ilhas Virgens Americanas/epidemiologia
2.
Gene ; 731: 144360, 2020 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-31935506

RESUMO

Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive facies, postnatal growth deficiency, cardiac defects and skeletal anomalies. Studies have determined that pathogenic variants of the lysine-specific methyltransferase 2D (KMT2D) and lysine-specific demethylase 6A (KDM6A) genes are the major causes of KS. The two genes encode different histone-modifying enzymes that are found in the same protein complex that is critical for cell differentiation during development. Here we report the results from next-generation sequencing of genomic DNA from 13 patients who had a clinical diagnosis of KS based on facial dysmorphism and other KS-specific cardinal phenotypes. Nine of the 13 patients were confirmed to be carrying heterozygous pathogenic KMT2D variants, seven of which were truncating and two were missense substitutions. Overall, we uncovered 11 novel variants - nine in KMT2D and two in KDM6A. Seven of the novel variants (all KMT2D) were likely causative of the KS phenotype. Our study expands the number of naturally occurring KMT2D and KDM6A variants. The discovery of novel pathogenic variants will add to the knowledge on disease-causing variants and the relevance of missense variants in KS.


Assuntos
Anormalidades Múltiplas/genética , Anormalidades Congênitas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Doenças Hematológicas/genética , Histona Desmetilases/genética , Proteínas de Neoplasias/genética , Doenças Vestibulares/genética , Anormalidades Múltiplas/epidemiologia , Ásia Sudeste/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Anormalidades Congênitas/epidemiologia , Análise Mutacional de DNA/métodos , Feminino , Doenças Hematológicas/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação INDEL , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto , Fenótipo , Análise de Sequência de DNA , Doenças Vestibulares/epidemiologia
3.
Environ Pollut ; 256: 113070, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31757565

RESUMO

In Iraq, war contamination is the result of dispensed bombs, bullets, detonation of chemical and conventional weapons, and burn-pit emissions by US bases. Increases in congenital anomalies were reported from Iraqi cities post-2003. These cities were heavily bombed and encircled by US bases with burn-pits. Thorium is a radioactive compound and a direct depleted-uranium decay-product. Radioactive materials, including depleted uranium, are routinely stored in US bases and they have been shown to leak into the environment. We conducted a case-control study to investigate associations of residential proximity to Tallil Air Base, a US military base near Nasiriyah, as well as levels of uranium and thorium in hair and deciduous teeth with congenital anomalies. The study was based on a sample of 19 cases and 10 controls who were recruited during late Summer and early Fall of 2016. We developed mixed effects logistic regression models with village as the random effect, congenital anomaly as the outcome and distance to the US base and hair metal levels (one at a time) as the predictor variable, controlling for child's age, sex and paternal education. We also explored the mediation of the association between proximity to the base and congenital anomalies by hair metal levels. We found an inverse association between distance to Tallil Air Base and risk of congenital anomalies and hair levels of thorium and uranium. The results of our mediation analyses were less conclusive. Larger studies are necessary to understand the scope of war contamination and its impact on congenital anomalies in Iraq.


Assuntos
Anormalidades Congênitas/epidemiologia , Poluição Ambiental/análise , Cabelo/química , Instalações Militares , Tório/análise , Urânio/análise , Estudos de Casos e Controles , Criança , Poluição Ambiental/efeitos adversos , Humanos , Lactente , Iraque , Probabilidade , Distribuição Aleatória , Risco , Tório/toxicidade , Estados Unidos , Urânio/toxicidade , Armas
4.
Int J Cancer ; 146(3): 791-802, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30980537

RESUMO

Perinatal factors have been associated with soft tissue sarcomas (STS) in case-control studies. However, (i) the contributions of factors including fetal growth remain unknown, ( ii) these factors have not been examined in cohort studies and (iii) few assessments have evaluated risk in specific STS subtypes. We sought to identify the role of perinatal and familial factors on the risk of STS in a large population-based birth cohort. We identified 4,023,436 individuals in the Swedish Birth Registry born during 1973-2012. Subjects were linked to the Swedish Cancer Registry, where incident STS cases were identified. We evaluated perinatal and familial factors obtained from Statistics Sweden, including fetal growth, gestational age, and presence of a congenital malformation. Poisson regression was used to estimate incidence rate ratios (IRRs) and 95% confidence intervals (CIs) for associations between perinatal factors and STS overall, as well as by common subtypes. There were 673 individuals diagnosed with STS in 77.5 million person-years of follow-up. Having a congenital malformation was associated with STS (IRR = 1.70, 95% CI: 1.23-2.35). This association was stronger (IRR = 2.90, 95% CI: 1.25-6.71) in recent years (2000-2012). Low fetal growth was also associated with STS during the same time period (IRR = 1.86, 95% CI: 1.05-3.29). Being born preterm was associated with rhabdomyosarcoma (IRR = 1.74, 95% CI: 1.08-2.79). In our cohort study, those with congenital malformations and other adverse birth outcomes were more likely to develop a STS compared to their unaffected contemporaries. These associations may point to disrupted developmental pathways and genetic factors influencing the risk of STS.


Assuntos
Anormalidades Congênitas/epidemiologia , Nascimento Prematuro/epidemiologia , Sarcoma/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Feminino , Seguimentos , Predisposição Genética para Doença , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Anamnese/estatística & dados numéricos , Sistema de Registros/estatística & dados numéricos , Fatores de Risco , Sarcoma/genética , Suécia/epidemiologia , Adulto Jovem
5.
Int J Gynaecol Obstet ; 148(1): 6-13, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31691277

RESUMO

OBJECTIVE: To assess the risk of adverse fetal outcomes after exposure to oral antifungal agents during pregnancy. SEARCH STRATEGY: PubMed, Embase, and Cochrane Central Register of Controlled Trials (CENTRAL) were searched up to October 2018. SELECTION CRITERIA: Cohort studies and case-control studies investigating fetal outcomes following maternal exposure to oral antifungal agents. DATA COLLECTION AND ANALYSIS: Two reviewers independently assessed studies for inclusion, assessed risk of bias, and extracted data. Pooled estimates were calculated for the frequency of adverse fetal outcomes. MAIN RESULTS: Overall, eight cohort studies and one case-control study were included. The oral antifungal agents used during pregnancy were fluconazole and itraconazole. The data indicated that oral fluconazole exposure during pregnancy might slightly increase the risk of congenital heart defects and limb defects relative to the general population; oral itraconazole during pregnancy might increase the risk of eye defects. No difference was found between oral fluconazole/itraconazole exposure and non-exposure in the risk of other birth defects, spontaneous abortion, or stillbirth. CONCLUSION: Oral fluconazole or itraconazole may not increase the risk of birth defects. Nonetheless, the risk of congenital heart defects and limb defects after fluconazole exposure and eye defects after itraconazole exposure should be cautiously investigated.


Assuntos
Antifúngicos/efeitos adversos , Fluconazol/efeitos adversos , Itraconazol/efeitos adversos , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Estudos de Casos e Controles , Estudos de Coortes , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Feminino , Humanos , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Natimorto/epidemiologia
6.
Rev Assoc Med Bras (1992) ; 65(10): 1249-1253, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31721956

RESUMO

OBJECTIVE: In this study, we intend to identify the prevalence of clinical variables in children with microcephaly. METHODS: This is a cross-sectional and observational study with data collected from medical records of patients admitted to the microcephaly outpatient clinic of a referral center in Teresina-PI. Demographic (gender and age) and clinical data (presence of epilepsy, dysphagia, irritability, and associated comorbidities) were collected. The frequency of Zika virus as a probable etiology was determined from computed tomography patterns and the exclusion of other etiologies by serological tests. RESULTS: A total of 67 patient records were evaluated, of which 31 were male and 36 were female, with a mean age of 1 year and 10 months. The most prevalent clinical variables were epilepsy, present in 47 children (70.2%), and irritability in 37 (55.2%). Also with a high frequency, 22 had dysphagia (32.8%), and 13 had musculoskeletal comorbidities (19.4%). Only three patients in the sample had cardiac abnormalities (4.5%), and no endocrine comorbidity was found. A total of 38 children in the sample (56.7%) presented ZIKV as a probable etiology and, in these cases, there was a higher frequency of epilepsy and dysphagia compared to other etiologies, although not statistically significant. CONCLUSION: Epilepsy, irritability, dysphagia, and musculoskeletal comorbidities were the most frequent clinical variables in children with microcephaly. There was a high prevalence of congenital ZIKV microcephaly syndrome in this sample.


Assuntos
Epilepsia/epidemiologia , Microcefalia/virologia , Anormalidades Musculoesqueléticas/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Infecção por Zika virus/epidemiologia , Brasil/epidemiologia , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Registros Médicos , Microcefalia/reabilitação , Gravidez , Complicações Infecciosas na Gravidez/etiologia , Prevalência , Centros de Reabilitação , Estudos Retrospectivos , Infecção por Zika virus/congênito , Infecção por Zika virus/reabilitação
7.
Niger Postgrad Med J ; 26(4): 239-243, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31621665

RESUMO

Background: Congenital anomalies (CAs) refer to defects that are present in a newborn but occurred during intrauterine life. They can be due to genetic, modifiable environmental or multifactorial causes. There was no prior report of their burden in our state. Aims: This study aims to describe the incidence, spectrum, predisposing factors and outcome of CAs in our setting. Methods: It was a total population study of all neonates with major birth defects admitted into the unit during the study period. Their clinical-demographic features, diagnoses and outcome were entered into an excel sheet. Clinical detection of birth defects was based on standard diagnostic criteria. The data were analysed using IBM SPSS Statistics for Windows, Version 20.0. Armonk, NY: IBM Corp. Patterns and outcome of birth defects were presented as proportions. Selected characteristics were tested for possible association with birth defect using Fisher's exact test. The level of significance was set at P < 0.05. Results: The incidence of major CAs was 4.3/1000 live births. Female neonates were more affected (59.0%). Participants' mean gestational age was 37.7 ± 3.3 weeks. Central nervous system anomalies were the most common (38.5%) birth defects. These were followed by musculoskeletal, body wall and digestive system anomalies: 28.2%, 23.1% and 10.3%, respectively. One-third (33.3%) of the infants had multiple anomalies. Nearly three quarters of them (74.0%) were referred, 18.0% died while 5.0% were discharged alive. Conclusion: A wide range of CAs occur in our setting with dire consequences. Provision of relevant specialised multidisciplinary care is desirable. Furthermore, pubic enlightenment on its modifiable possible causes can reduce the burden.


Assuntos
Sistema Nervoso Central/anormalidades , Anormalidades Congênitas/epidemiologia , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Grupo com Ancestrais do Continente Africano , Criança , Anormalidades Congênitas/classificação , Estudos Transversais , Anormalidades do Sistema Digestório/epidemiologia , Feminino , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Anormalidades Musculoesqueléticas/epidemiologia , Nigéria/epidemiologia
8.
J Pediatr Orthop ; 39(9): e718-e721, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31503233

RESUMO

BACKGROUND: Accessory ossicles off the talus (os trigonum) are a common radiographic finding seen within the foot with variable symptomatology in adult and pediatric patients. Although most studies have examined the incidence of these anatomic variants in a retrospective manner, few have longitudinally followed the behavior of os trigonum over time. The aim of this study was to investigate the incidence, mean age of appearance and fusion, and fusion rate of os trigonum in a large cohort of asymptomatic pediatric patients. METHODS: A total of 2620 serial digitized unilateral foot and ankle radiographs from 261 healthy white children (age range, 0.25 to 7 y at enrollment) were retrospectively reviewed. Radiographs were examined to determine the incidence of os trigonum, noting age of appearance and if present, the age of fusion. Skeletal maturity was graded based on ossification pattern of the calcaneal apophysis. RESULTS: Radiographic evidence of os trigonum was present in 18% of patients (n=16 females, n=15 males) with radiographs extending 1 SD beyond the average age of os trigonum appearance. There was no difference in incidence between females and males (P=0.27), and os trigonum was found to appear at a significantly younger age in females (9.1±1.8 y) than males (10.4±2.0 y, P=0.04). Overall, 70% (n=26) of subjects with os trigonum achieved fusion by age 17 (mean, 9.5±1.6 y in females, 11.2±1.6 in males) with no significant difference between sexes (P=0.61). Grading of skeletal maturity at the time of fusion showed that both male and female subjects underwent fusion on average between calcaneal stages 2 and 3 (P=0.5). CONCLUSIONS: This study confirms a relatively large prevalence of os trigonum in a random pediatric population, and clarifies both the average age of onset and high rate of fusion at a relatively narrow range of skeletal maturity. LEVEL OF EVIDENCE: Prognostic level II-retrospective study.


Assuntos
Osso e Ossos/anormalidades , Anormalidades Congênitas/epidemiologia , Tálus/anormalidades , Adolescente , Fatores Etários , Osso e Ossos/diagnóstico por imagem , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico por imagem , Feminino , Humanos , Incidência , Lactente , Masculino , Prevalência , Radiografia , Estudos Retrospectivos , Fatores Sexuais
9.
J Assoc Physicians India ; 67(9): 38-41, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31561687

RESUMO

Objectives: The present study was aimed at assessing Association of Maternal Risk Factors to congenital anomalies of infants. Material and Methods: This community based retrospective and cross-sectional study was carried out in 23 rural sub-centres of block Beri, district Jhajjar (Haryana, India) among 920 mothers. A predesigned pretested semistructured questionnaire was used to collect information. Univariate analysis along with logistic regression analysis was performed. Results: The prevalence of congenitally malformations was 1.2%. Most common congenital malformations were cleft lip/palate (18.18%) and hydrocephalus (18.18%). Mothers with < 3 years gap between pregnancies had higher prevalence (1.7%) of congenital malformations in live births. Mothers with previous history of congenital malformation (8.3%) and abortions (13.6%) had higher prevalence of congenitally malformed babies with 2.6 and 4 times higher odds of having a malformed baby. Conclusion: The study concluded that mothers with risk factors like extreme of ages, illiteracy, bad obstetric history, history of previous congenitally malformed baby are at increased risk of fetal congenital malformation.


Assuntos
Anormalidades Congênitas/epidemiologia , Estudos Transversais , Feminino , Humanos , Índia/epidemiologia , Lactente , Gravidez , Prevalência , Estudos Retrospectivos , Fatores de Risco
10.
PLoS Negl Trop Dis ; 13(9): e0007721, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31545803

RESUMO

This study aimed to assess the impact of the Zika epidemic on the registration of birth defects in Brazil. We used an interrupted time series analysis design to identify changes in the trends in the registration of congenital anomalies. We obtained monthly data from Brazilian Live Birth Information System and used two outcome definitions: 1) rate of congenital malformation of the brain and eye (likely to be affected by Zika and its complications) 2) rate of congenital malformation not related to the brain or eye unlikely to be causally affected by Zika. The period between maternal infection with Zika and diagnosis of congenital abnormality attributable to the infection is around six months. We therefore used September 2015 as the interruption point in the time series, six months following March 2015 when cases of Zika started to increase. For the purposes of this analysis, we considered the period from January 2010 to September 2015 to be "pre-Zika event," and the period from just after September 2015 to December 2017 to be "post-Zika event." We found that immediately after the interruption point, there was a great increase in the notification rate of congenital anomalies of 14.9/10,000 live births in the brain and eye group and of 5.2/10,000 live births in the group not related with brain or eye malformations. This increase in reporting was in all regions of the country (except in the South) and especially in the Northeast. In the period "post-Zika event", unlike the brain and eye group which showed a monthly decrease, the group without brain or eye malformations showed a slow but significant increase (relative to the pre-Zika trend) of 0.2/10,000 live births. These findings suggest an overall improvement in the registration of birth malformations, including malformations that were not attributed to Zika, during and after the Zika epidemic.


Assuntos
Anormalidades Congênitas/epidemiologia , Sistema de Registros/normas , Infecção por Zika virus/complicações , Encéfalo/anormalidades , Brasil/epidemiologia , Anormalidades Congênitas/virologia , Coleta de Dados/normas , Epidemias/estatística & dados numéricos , Anormalidades do Olho/epidemiologia , Feminino , Humanos , Análise de Séries Temporais Interrompida , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , Zika virus , Infecção por Zika virus/epidemiologia
11.
BMC Pregnancy Childbirth ; 19(1): 282, 2019 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-31391005

RESUMO

BACKGROUND: Until recently, Zika virus (ZIKV) infections were considered mild and self-limiting. Since 2015, they have been associated with an increase in microcephaly and other birth defects in newborns. While this association has been observed in case reports and epidemiological studies, the nature and extent of the relationship between ZIKV and adverse pregnancy and pediatric health outcomes is not well understood. With the unique opportunity to prospectively explore the full spectrum of issues related to ZIKV exposure during pregnancy, we undertook a multi-country, prospective cohort study to evaluate the association between ZIKV and pregnancy, neonatal, and infant outcomes. METHODS: At research sites in ZIKV endemic regions of Brazil (4 sites), Colombia, Guatemala, Nicaragua, Puerto Rico (2 sites), and Peru, up to 10,000 pregnant women will be recruited and consented in the first and early second trimesters of pregnancy and then followed through delivery up to 6 weeks post-partum; their infants will be followed until at least 1 year of age. Pregnant women with symptomatic ZIKV infection confirmed by presence of ZIKV RNA and/or IgM for ZIKV will also be enrolled, regardless of gestational age. Participants will be tested monthly for ZIKV infection; additional demographic, physical, laboratory and environmental data will be collected to assess the potential interaction of these variables with ZIKV infection. Delivery outcomes and detailed infant assessments, including physical and neurological outcomes, will be obtained. DISCUSSION: With the emergence of ZIKV in the Americas and its association with adverse pregnancy outcomes in this region, a much better understanding of the spectrum of clinical outcomes associated with exposure to ZIKV during pregnancy is needed. This cohort study will provide information about maternal, fetal, and infant outcomes related to ZIKV infection, including congenital ZIKV syndrome, and manifestations that are not detectable at birth but may appear during the first year of life. In addition, the flexibility of the study design has provided an opportunity to modify study parameters in real time to provide rigorous research data to answer the most critical questions about the impact of congenital ZIKV exposure. TRIAL REGISTRATION: NCT02856984 . Registered August 5, 2016. Retrospectively registered.


Assuntos
Anormalidades Congênitas/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Infecção por Zika virus/epidemiologia , Adolescente , Adulto , Anticorpos Antivirais/sangue , Brasil/epidemiologia , Estudos de Coortes , Colômbia/epidemiologia , Feminino , Retardo do Crescimento Fetal/epidemiologia , Guatemala/epidemiologia , Humanos , Imunoglobulina M , Lactente , Recém-Nascido , Masculino , Nicarágua/epidemiologia , Peru/epidemiologia , Pré-Eclâmpsia/epidemiologia , Gravidez , Primeiro Trimestre da Gravidez , Segundo Trimestre da Gravidez , Nascimento Prematuro/epidemiologia , Estudos Prospectivos , Porto Rico/epidemiologia , RNA Viral/sangue , Adulto Jovem , Zika virus
12.
J Pediatr Orthop ; 39(8): e608-e613, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31393300

RESUMO

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.


Assuntos
Comunicação Interatrial/epidemiologia , Atresia Intestinal/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Escoliose/epidemiologia , Coluna Vertebral/anormalidades , Adolescente , Criança , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Bases de Dados Factuais , Humanos , Incidência , Lactente , Recém-Nascido , Intestino Grosso/anormalidades , Rim/anormalidades , Nefropatias/congênito , Nefropatias/epidemiologia , Síndrome de Klippel-Feil/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
13.
BMC Res Notes ; 12(1): 495, 2019 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-31399144

RESUMO

OBJECTIVE: Although infant mortality because of birth defect has increased in both developed and developing countries, had not got attention like other health issues at national, regional, or local levels. Documenting the risk factors that influence the occurrence of birth defects and its seasonality will help to inform the community and to develop preventive strategies for the country. RESULTS: Factors associated with higher likelihood of a major structural birth defects included maternal age; neonates born from women living in urban; and in Dega; history of fever during pregnancy; intake of herbal medicine; and drinking alcohol. Counselling for pregnancy preparation and folic acid supplementation was found protective for the likelihood of birth defect.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Congênitas/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Adulto , Consumo de Bebidas Alcoólicas/efeitos adversos , Estudos de Casos e Controles , Fenda Labial/etiologia , Fenda Labial/prevenção & controle , Fissura Palatina/etiologia , Fissura Palatina/prevenção & controle , Anormalidades Congênitas/etiologia , Anormalidades Congênitas/prevenção & controle , Países em Desenvolvimento , Suplementos Nutricionais , Etiópia/epidemiologia , Feminino , Febre/complicações , Ácido Fólico/administração & dosagem , Humanos , Lactente , Recém-Nascido , Masculino , Idade Materna , Anormalidades Musculoesqueléticas/etiologia , Anormalidades Musculoesqueléticas/prevenção & controle , Defeitos do Tubo Neural/etiologia , Defeitos do Tubo Neural/prevenção & controle , Parto , Gravidez , Encaminhamento e Consulta , Fatores de Risco , Estações do Ano , População Urbana
14.
Int J Pediatr Otorhinolaryngol ; 126: 109610, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31374385

RESUMO

OBJECTIVE: To determine if radiologic imaging is necessary to rule out cholesteatoma in patients with congenital aural atresia. METHODS: A retrospective chart review of patients attending the BC Children's Hospital Microtia Clinic from January 1, 1990 through April 17, 2017 was undertaken. Patients with complete atresia of the external canal were included in the study. Available radiologic imaging and clinical records were examined for the presence or absence of cholesteatoma. RESULTS: Of the 125 charts reviewed, 102 met criteria for inclusion in the study and 79 had three-dimensional imaging completed. None of these 102 patients had radiologic or clinical evidence of cholesteatoma. CONCLUSION: Computed tomography and/or magnetic resonance imaging remains an essential modality in the work-up of selected patients with microtia/atresia. It may be unnecessary in the follow-up of certain patients to rule out a congenital cholesteatoma. This imaging avoidance may reduce exposure to radiation, the potential need for general anaesthesia, and unnecessary financial cost.


Assuntos
Colesteatoma/congênito , Anormalidades Congênitas/epidemiologia , Microtia Congênita/epidemiologia , Orelha/anormalidades , Tomografia Computadorizada por Raios X , Procedimentos Desnecessários , Colúmbia Britânica/epidemiologia , Criança , Pré-Escolar , Colesteatoma/diagnóstico por imagem , Feminino , Hospitais Pediátricos , Humanos , Imagem Tridimensional , Imagem por Ressonância Magnética , Masculino , Estudos Retrospectivos
15.
Epidemiol Prev ; 43(2-3 Suppl 1): 1-208, 2019.
Artigo em Italiano | MEDLINE | ID: mdl-31295974

RESUMO

INTRODUCTION AND OBJECTIVES: This volume provides an update of the health status of the populations living in the National Priority Contaminated Sites (NPCSs) included in the SENTIERI Project. This update is part of an epidemiological surveillance programme carried out in NPCSs, promoted by the Italian Ministry of Health as a further step of a project started in 2006, when the health status of residents in contaminated sites was first addressed within the National Strategic Program "Environment and Health". The Report focuses on five health outcomes: mortality, cancer incidence, hospital discharges, congenital anomalies, and children, adolescents and young adults' health. A key element of SENTIERI project is the a priori evaluation of the epidemiological evidence of a causal association between the considered cause of disease and the exposure. When an a priori evidence is identified, it is given a greater importance in the comment of the study findings. METHODS: The present update of the SENTIERI Project concerns 45 NPCSs including in all 319 Italian Municipalities (out of over 8,000 Municipalities), with an overall population of 5,900,000 inhabitants at the 2011 Italian Census. Standardized Mortality Ratios (SMRs) and Standardized Hospitalization Ratios (SHRs), referring to a time window of 2006-2013, were computed for all the 45 NPCSs, using as a reference the corresponding mortality and hospitalization rates of the Regions where each NCPS is located. Standardized Incidence Ratios (SIRs) were computed by the Italian Association of Cancer Registries (AIRTUM) for the 22 NPCSs served by a Cancer Registry. AIRTUM covers about 56% of Italy, with partly different time-windows. SIRs have been estimated using as reference population the 4 macroareas in which Italy is divided (North-West, North-East, Centre, South). Prevalence of congenital anomalies was computed for 15 NPCSs. RESULTS: An all-cause excess of 5,267 and 6,725 deaths was observed, respectively, in men and women; the cancer death excess was of 3,375 in men and 1,910 in women. It was estimated an excess of cancer incidence of 1,220 case in men and 1,425 in women over a five-year time window. With regard to the diseases with an a priori environmental aetiological validity, an excess for malignant mesothelioma, lung, colon, and gastric cancer, and for non-malignant respiratory diseases was observed. Cancer excess mainly affected NPCSs with presence of chemical and petrochemical plants, oil refineries, and dumping hazardous wastes. An excess of non-malignant respiratory disease was also detected in NPCSs in which steel industries and thermoelectric plants were present. An excess of mesothelioma was observed in NPCSs characterized by presence of asbestos and fluoro-edenite; it was also observed where the presence of asbestos was not reported in the legislative national decrees which define the NPCS areas. It is worth noting that, even if the presence of asbestos is not reported in many NPCSs legislative decrees, petrochemical plants and steel industries, for instance, are often characterized by the presence of a large amount of this mineral that, in the past, was extensively used as an insulating material. For the first time, the present Report includes a focus on the health status of children and adolescents (1,160,000 subjects, aged 0-19 years), and young adults (660,000 subjects, aged 20-29 years). Among infants (0-1 year), an excess of 7,000 hospitalizations was observed, 2,000 of which due to conditions of perinatal origin. In the age class 0-14, an excess of 22,000 hospitalizations for all causes was observed; 4,000 of them were due to acute respiratory diseases, and 2,000 to asthma. Data on cancer incidence for subjects aged 0-24 years were derived from general population cancer registries for twenty NPCSs, and from children cancer registries (age group: 0-19 years) for six NPCSs; 666 cases where diagnosed in the age group 0-24 years, corresponding to an excess of 9%. The main contributions to this excess are from soft tissue sarcomas in children (aged 0-14 years), acute myeloid leukaemia in children (aged 0-14 years) and in the age group 0-29 years, non-Hodgkin lymphoma and testicular cancer in young adults (aged 20-29 years). In seven out of 15 NPCSs, an excess prevalence rate of overall congenital anomalies at birth was observed. Congenital anomalies excesses included the following sites: genital organs, heart, limbs, nervous system, digestive system, and urinary system. CONCLUSIONS: The main findings of SENTIERI Project have been the detection of excesses for the diseases which showed an a priori epidemiological evidence of a causal association with the environmental exposures specific for each considered NPCS. These observations are valuable within public health, because they contribute to priority health promotion activities. Looking ahead, the health benefits of an improved environmental quality might be appreciated in terms of reduction of the occurrence of adverse health effects attributable to each Site major pollutant agents. Due to the methodological approach of the present study, it was not possible to adjust for several confounding factors reported to be risk factors for the studied diseases (e.g., smoking, alcohol consumption, obesity). Even if excesses of mortality, hospitalization, cancer incidence, and prevalence of congenital anomalies were found in several NPCSs, the study design and the multifactorial aetiology of the considered diseases do not permit, for all of them, to draw conclusions in terms of causal links with environmental contamination. Moreover, it must be taken into consideration that economic factors and the availability of health services may also play a relevant role in a diseases outcome. A few observations regarding some methodological limitations of SENTIERI Project should be made. There is not a uniform environmental characterisation of the studied NPCSs in term of quality and detection of the pollutants, because this information is present in different databases which at present are not adequately connected. Moreover, the recognition of a contaminated site as a National Priority Site is based on soil and groundwater pollution, and the available information on air quality is currently sparse and not homogenous. Another limitation, in term of statistical power, is the small population size of many NPCSs and the low frequency of several health outcomes. A special caution must be paid in data interpretation when considering the correspondence between the contaminated areas and the municipality boundaries, as they do not always coincide perfectly: in some cases, a small municipality with a large industrial site, while in other settings only a part of the municipality is exposed to the sources of pollution. Furthermore, all available health information systems are currently accessible at municipality level. The real breakthrough is essentially comprised of the development and fostering of a networking system involving all local health authorities and regional environmental protection agencies operating in the areas under study. The possibility to integrate the geographic approach of SENTIERI Project with a set of ad hoc analytic epidemiological investigations, such as residential cohort studies, case control studies, children health surveys, biomonitoring surveys, and with socioepidemiological studies, might greatly contribute to the identification of health priorities for environmental remediation activities. Finally, as discussed in the last section of the report, there is a need to adopt, in each NPCS, a two-way oriented communication plan involving public health authorities, scientific community, and resident population, taking into account that the history, the cultural frame and the network of relationships specific of each local context play a major role in the risk perception perspective.


Assuntos
Poluição Ambiental/efeitos adversos , Adolescente , Adulto , Idoso , Causas de Morte , Criança , Pré-Escolar , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Disruptores Endócrinos/toxicidade , Exposição Ambiental/efeitos adversos , Recuperação e Remediação Ambiental , Feminino , Humanos , Incidência , Resíduos Industriais/efeitos adversos , Lactente , Recém-Nascido , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Neoplasias/etiologia , Gravidez , Adulto Jovem
16.
J Perinat Med ; 47(6): 637-642, 2019 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-31287800

RESUMO

Background Sjögren's syndrome (SS) is an autoimmune connective tissue disease affecting the body's moisture-producing glands. Some studies have linked SS to adverse maternal/neonatal outcomes, but sample sizes have tended to be small, with few outcomes examined. The purpose of this study was to evaluate the effect of SS on pregnancy outcomes for mother and neonate using a large dataset. Methods We carried out a retrospective cohort study of women who delivered between 1999 and 2014 using data from the Nationwide Inpatient Sample from the United States. SS categorization is based on ICD-9 coding. Baseline characteristics were compared in both groups and multivariate logistic regression was used to compare maternal and fetal outcomes of pregnancies in women with and without SS. Results The prevalence of SS in our population was 1.34 cases/10,000 births, with the rate increasing over the study period. Women with SS tended to be older, Caucasian and to have pre-existing comorbidities. Births to women with SS were at greater risk of pre-eclampsia [odds ratio (OR) 1.63, 95% confidence interval (CI) 1.34-1.99]; premature rupture of membranes (OR 1.28, 95% CI 1.04-1.57); preterm delivery (OR 1.56, 95% CI 1.34-1.81); cesarean delivery (OR 1.29, 95% CI 1.17-1.41); and venous thromboembolic events (OR 3.71, 95% CI 2.57-5.35). Infants of women with SS were more likely to have intrauterine growth restriction (IUGR) (OR 3.00, 95% CI 2.46-3.65); and congenital malformations (OR 3.26, 95% CI 2.30-4.62). Conclusion SS is a high-risk pregnancy condition associated with significant comorbidities and adverse maternal and fetal outcomes. Women with SS may benefit from increased surveillance during their pregnancies.


Assuntos
Complicações na Gravidez , Síndrome de Sjogren , Adulto , Cesárea/estatística & dados numéricos , Anormalidades Congênitas/epidemiologia , Anormalidades Congênitas/etiologia , Feminino , Retardo do Crescimento Fetal/epidemiologia , Retardo do Crescimento Fetal/etiologia , Ruptura Prematura de Membranas Fetais/epidemiologia , Ruptura Prematura de Membranas Fetais/etiologia , Humanos , Recém-Nascido , Classificação Internacional de Doenças , Trabalho de Parto Prematuro/epidemiologia , Trabalho de Parto Prematuro/etiologia , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Gravidez de Alto Risco , Prevalência , Estudos Retrospectivos , Medição de Risco , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Síndrome de Sjogren/epidemiologia
17.
Pediatr Surg Int ; 35(11): 1279-1289, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31324976

RESUMO

INTRODUCTION/PURPOSE: The burden of pediatric surgical disease is largely unknown in low- and middle-income countries such as Uganda where access to care is limited. METHODS: Implementation of a locally led database in January 2012 at a Ugandan tertiary referral hospital, and review of 3465 prospectively collected pediatric surgical admissions from January 2012 to August 2016. RESULTS: 2090 children (60.3%) underwent surgery during admission. 59% were male and 41% female. 28.6% of admissions were in neonates and 50.4% were in children less than 1 year old. Congenital anomalies including Hirschsprung's, anorectal malformations, intestinal atresias, omphalocele, and gastroschisis were the most common diagnoses (38.6%) followed by infections (15.0%) and tumors (8.6%). Mortality rates were substantially higher than those of high-income countries; for example, gastroschisis and intussusception had mortality rates of 90.1% and 19.7%, respectively. Post-operative mortality was highest in the congenital anomalies group (15.0%). CONCLUSION: There is a high burden of infant congenital anomalies with higher mortality rates compared to high-income countries. The unit performs primarily specialized procedures appropriate for a tertiary center. We hope that these data will facilitate evaluation of ongoing quality improvement and capacity-building initiatives.


Assuntos
Anormalidades Congênitas/epidemiologia , Neoplasias/epidemiologia , Ferimentos e Lesões/epidemiologia , Pré-Escolar , Anormalidades Congênitas/cirurgia , Feminino , Mortalidade Hospitalar , Hospitalização , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias/cirurgia , Estudos Prospectivos , Centros de Atenção Terciária , Uganda/epidemiologia , Ferimentos e Lesões/cirurgia
18.
Indian Pediatr ; 56(7): 563-565, 2019 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-31333210

RESUMO

OBJECTIVE: To describe the utility of flexible fiberoptic bronchoscopy for the diagnosis and management in the neonatal ICU. METHODS: A retrospective, medical chart review was conducted in neonates who underwent flexible fiberoptic bronchoscopy over a period of 7 years. Besides demographic data and diagnostic findings, the results of medical and/or surgical interventions done by treating neonatologist were recorded. RESULTS: 88 bronchoscopies were performed in 83 neonates, of which 37 were done through endotracheal tube. Indications included persistent need for mechanical ventilation (32), persistent atelectasis (21), and stridor (27). Most common airway anomalies diagnosed included tracheobronchomalacia (20), laryngomalacia (18), subglottic stenosis (7), choanal atresia (4), laryngeal cleft (4), and tracheoesophageal fistula (4). Surgical interventions were undertaken in 17 cases (9 tracheostomies and 2 cases of slide tracheoplasty). CONCLUSIONS: Flexible fiberoptic bronchoscopy can be beneficial for the diagnosis and management of neonates with persistent or undiagnosed respiratory problems.


Assuntos
Manuseio das Vias Aéreas/métodos , Broncoscopia , Doenças do Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Intubação Intratraqueal/métodos , Broncoscopia/métodos , Broncoscopia/estatística & dados numéricos , Doenças das Cartilagens/diagnóstico , Doenças das Cartilagens/epidemiologia , Atresia das Cóanas/diagnóstico , Atresia das Cóanas/epidemiologia , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Feminino , Humanos , Índia/epidemiologia , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Unidades de Terapia Intensiva Neonatal/organização & administração , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Laringoestenose/diagnóstico , Laringoestenose/epidemiologia , Laringe/anormalidades , Masculino , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fístula Traqueoesofágica/diagnóstico
19.
N Engl J Med ; 381(9): 827-840, 2019 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-31329379

RESUMO

BACKGROUND: A preliminary safety signal for neural-tube defects was previously reported in association with dolutegravir exposure from the time of conception, which has affected choices of antiretroviral treatment (ART) for human immunodeficiency virus (HIV)-infected women of reproductive potential. The signal can now be evaluated with data from follow-up of additional pregnancies. METHODS: We conducted birth-outcomes surveillance at hospitals throughout Botswana, expanding from 8 to 18 sites in 2018. Trained midwives performed surface examinations of all live-born and stillborn infants. Research assistants photographed abnormalities after maternal consent was obtained. The prevalence of neural-tube defects and major external structural defects according to maternal HIV infection and ART exposure status was determined. In the primary analyses, we used the Newcombe method to evaluate differences in prevalence with 95% confidence intervals. RESULTS: From August 2014 through March 2019, surveillance captured 119,477 deliveries; 119,033 (99.6%) had an infant surface examination that could be evaluated, and 98 neural-tube defects were identified (0.08% of deliveries). Among 1683 deliveries in which the mother was taking dolutegravir at conception, 5 neural-tube defects were found (0.30% of deliveries); the defects included two instances of myelomeningocele, one of anencephaly, one of encephalocele, and one of iniencephaly. In comparison, 15 neural-tube defects were found among 14,792 deliveries (0.10%) in which the mother was taking any non-dolutegravir ART at conception, 3 among 7959 (0.04%) in which the mother was taking efavirenz at conception, 1 among 3840 (0.03%) in which the mother started dolutegravir treatment during pregnancy, and 70 among 89,372 (0.08%) in HIV-uninfected mothers. The prevalence of neural-tube defects was higher in association with dolutegravir treatment at conception than with non-dolutegravir ART at conception (difference, 0.20 percentage points; 95% confidence interval [CI], 0.01 to 0.59) or with other types of ART exposure. Major external structural defects were found in 0.95% of deliveries among women exposed to dolutegravir at conception and 0.68% of those among women exposed to non-dolutegravir ART at conception (difference, 0.27 percentage points; 95% CI, -0.13 to 0.87). CONCLUSIONS: The prevalence of neural-tube defects was slightly higher in association with dolutegravir exposure at conception than with other types of ART exposure at conception (3 per 1000 deliveries vs. 1 per 1000 deliveries). (Funded by the National Institutes of Health.).


Assuntos
Antirretrovirais/efeitos adversos , Anormalidades Congênitas/epidemiologia , Infecções por HIV/tratamento farmacológico , Compostos Heterocíclicos com 3 Anéis/efeitos adversos , Defeitos do Tubo Neural/induzido quimicamente , Complicações Infecciosas na Gravidez/tratamento farmacológico , Adulto , Antirretrovirais/uso terapêutico , Botsuana/epidemiologia , Quimioterapia Combinada , Feminino , Feto/efeitos dos fármacos , Inibidores de Integrase de HIV/efeitos adversos , Inibidores de Integrase de HIV/uso terapêutico , Compostos Heterocíclicos com 3 Anéis/uso terapêutico , Humanos , Recém-Nascido , Defeitos do Tubo Neural/epidemiologia , Vigilância da População , Gravidez , Prevalência , Fatores Socioeconômicos
20.
Adv Neonatal Care ; 19(4): 275-284, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31268866

RESUMO

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 , Estudos Retrospectivos , Resultado do Tratamento
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