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1.
Arch. argent. pediatr ; 118(5): 313-319, oct 2020. mapas, tab, graf
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-1122015

RESUMO

Introducción. La tasa de mortalidad infantil (TMI) es un indicador de salud y de condiciones socioeconómicas, ambientales y sanitarias. Basurales a cielo abierto y desechos cloacales e industriales hacen de la Cuenca Matanza Riachuelo (CMR) la más contaminada de Argentina.Objetivo. Analizar la mortalidad infantil (MI) en la CMR en comparación con Argentina, provincia de Buenos Aires (PBA) y Ciudad Autónoma de Buenos Aires (CABA), y la evolución entre los años 2010 y 2017.Población y métodos. Estudio descriptivo a partir de datos del Ministerio de Salud de la Nación.Resultados. En 2017, la TMI en la CMR fue del 9,4 ‰; en Argentina, del 9,3 ‰; en PBA, del 9,4 ‰, y, en CABA, del 6,9 ‰. Entre 2010 y 2017, se observó una disminución de la TMI en la CMR del 20,6 %, similar a PBA y Argentina. En CABA, no hubo descenso.En las 4 jurisdicciones, las afecciones perinatales representaron la primera causa de muerte, seguidas por las malformaciones congénitas y las enfermedades respiratorias. Solo para enfermedad respiratoria, en la CMR, el riesgo fue 4 veces mayor que en CABA (riesgo relativo: 3,9; intervalo de confianza del 95 %: 1,4-10,7).Conclusión. La estructura de causas, la evolución y el riesgo de MI en la CMR, Argentina y PBA fueron similares entre 2010 y 2017. CABA presentó una TMI menor que CMR, pero no mostró descensos. El riesgo de MI en la CMR fue mayor que en CABA a expensas del mayor riesgo por enfermedad respiratori


Introduction. Infant mortality rate (IMR) is an indicator of health and socioeconomic, environmental, and health care conditions. Open dumps and sewage and industrial waste make the Matanza-Riachuelo River Basin the most polluted in Argentina.Objective. To analyze infant mortality (IM) in the Matanza-Riachuelo River Basin compared to Argentina, the province of Buenos Aires (PBA), and the Autonomous City of Buenos Aires (CABA), and its evolution between 2010 and 2017.Population and methods. Descriptive study based on data from Argentina's Ministry of Health.Results. In 2017, the IMR was 9.4 ‰ in the Matanza-Riachuelo River Basin; 9.3 ‰ in Argentina; 9.4 ‰ in PBA; and 6.9 ‰ in CABA. Between 2010 and 2017, the IMR in the Matanza-Riachuelo River Basin decreased by 20.6 %, similar to PBA and Argentina. No reduction was observed in CABA.In the 4 jurisdictions, perinatal conditions were the leading cause of death, followed by congenital malformations and respiratory diseases. For respiratory diseases only, the risk in the Matanza-Riachuelo River Basin was 4 times higher than in CABA (relative risk: 3.9; 95 % confidence interval: 1.4-10.7).Conclusion. The structure of causes, evolution, and risk of IM in the Matanza-Riachuelo River Basin, Argentina, and PBA was similar between 2010 and 2017. IMR was lower in CABA than in the Matanza-Riachuelo River Basin, but no reduction was observed in the former. The risk of IM was higher in the Matanza-Riachuelo River Basin than in CABA, at the expense of the increased risk of respiratory disease


Assuntos
Humanos , Masculino , Feminino , Lactente , Mortalidade Infantil , Doenças Respiratórias/mortalidade , Anormalidades Congênitas/mortalidade , Saúde Pública , Epidemiologia Descritiva , Causas de Morte , Poluição Ambiental
2.
Arch. argent. pediatr ; 118(5): e486-e490, oct 2020. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1122536

RESUMO

El síndrome de bridas amnióticas es un complejo de anomalías congénitas causadas por la rotura prematura del amnios, por lo que se originan bandas fibrosas que comprimen determinadas regiones del feto. Afecta a entre 1:1200 y 1:15 000 recién nacidos vivos según las series consultadas.La clínica típica consiste en alteraciones en las extremidades (anillos de constricción, amputaciones asimétricas más o menos distales, sindactilias y pie zambo), y se han descrito alteraciones toracoabdominales o faciales. Recientes trabajos han demostrado la utilidad del método de Ponseti en el tratamiento del pie zambo asociado al síndrome de bridas amnióticas. Se presenta el caso de un recién nacido que padecía un síndrome de bridas amnióticas y se ahonda en el manejo y la resolución quirúrgica de las malformaciones en las extremidades. En especial, se analiza la utilización del método de Ponseti en el tratamiento del pie zambo congénito sindrómic


Amniotic band syndrome consists in a group of congenital abnormalities caused by strands of the amniotic sac that entangle some parts of the fetus. Those strands result from premature rupture of amnios. The incidence of amniotic band syndrome is 1:1200 to 1:15,000 live births, depending on case studies.Mostly affected parts of fetus are limbs (asymmetric amputations, syndactyly and clubbed foot) but facial and thoracoabdominal abnormalities have also been described.Recent works have proved the utility of Ponseti method to treat clubfoot associated with amniotic band syndrome. We report the case of a newborn with amniotic band syndrome focusing on management and surgical repair of limbs deformities. Especially, we highlight the use of Ponseti method in treatment of syndromic clubfoot


Assuntos
Humanos , Masculino , Gravidez , Recém-Nascido , Síndrome de Bandas Amnióticas/cirurgia , Procedimentos Cirúrgicos Operatórios , Anormalidades Congênitas , Deformidades Congênitas dos Membros , Pé Torto/reabilitação , Síndrome de Bandas Amnióticas/terapia
3.
Vet Clin North Am Food Anim Pract ; 36(3): 735-743, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33032703

RESUMO

Whether poisoned by grazing toxic plants or by eating feeds that are contaminated by toxic plants, affected livestock often have compromised reproductive function including infertility, abortion, and fetal deformities. Certainly all diagnostic tools-field studies, clinical signs, gross and microscopic pathology as well as chemical identification of plant and plant toxins in animal samples-are essential to make an accurate diagnosis, to develop intervening management strategies and to improve the reproductive performance. The objectives of this review are to briefly introduce toxic plants that are reproductive toxins, abortifacients, or teratogens.


Assuntos
Abortivos/envenenamento , Anormalidades Congênitas/veterinária , Doenças dos Genitais Femininos/veterinária , Doenças dos Genitais Masculinos/veterinária , Gado , Intoxicação por Plantas/veterinária , Plantas Tóxicas/envenenamento , Animais , Anormalidades Congênitas/etiologia , Feminino , Doenças dos Genitais Femininos/etiologia , Doenças dos Genitais Masculinos/etiologia , Infertilidade , Masculino , Intoxicação por Plantas/etiologia
4.
Artigo em Chinês | MEDLINE | ID: mdl-33040500

RESUMO

Objective:To report the nonsurgical correction of congenital auricular deformities in children older than 3 months, analysis the effect and the recurrence and the influencing factors. Method:Patients with auricular deformities who came to our department from July 2017 to August 2019 were collected. EarWell correction was performed for non-invasive correction. Follow-up was performed for at least 3 months after treatment. Data was collected to analysis the effect and the recurrence and the influencing factors. Result:At the end of follow-up, 76 cases of 88 ears were collected, at the end of treatment in this group, the efficiency was 87.5%, and the recurrence rate was 19.48%, 3 months after the end of treatment. There was a statistically significant difference in the distribution of auricle deformities(P=0.018) and the age of first treatment(P=0.028) between children in the effective group and those in the ineffective group. Of all the auricle deformities, the treatment of cryptotia was the most effective, and the effectiveness of prominent ears was the lowest. The family history(P=0.314), gender(P=0.421), and feeding method(P=0.557) of the effective and ineffective groups. There was no significant difference in the gestational weeks at birth(P=0.641), the mode of production(P=0.849), and birth weight(P=0.08). There was no significant difference in age between the relapsed group and the non-relapsed group at the age of first treatment(P=0.833).There was significant difference in the distribution of auricle deformities between the relapsed group and the non-relapsed group(P=0.013). There was no statistically significant difference between the effective group and the ineffective group at the age of first diagnosis and treatment time if we exclude cryptotia. Conclusion:For children who are treated beyond the treatment time window, the main factor affecting the treatment effect is the type of deformity. Nonsurgical correction can still be tried for older than 3 months with auricular deformities, especially for cryptotia, ear wheel deformities, and auricular cavity deformities. We do not recommend to try nonsurgical correction for children older than 3 months with prominent ears and cup ears.


Assuntos
Anormalidades Congênitas , Pavilhão Auricular , Orelha Externa , Criança , Anormalidades Congênitas/terapia , Pavilhão Auricular/anormalidades , Orelha Externa/anormalidades , Humanos , Lactente , Recém-Nascido , Anamnese , Recidiva
5.
Artigo em Português | PAHO-IRIS | ID: phr-52939

RESUMO

[RESUMO]. Objetivo. Descrever o perfil clínico-epidemiológico dos casos confirmados de microcefalia e/ou alterações do sistema nervoso central (SNC) relacionadas a infecção congênita pelo vírus Zika e outras etiologias infecciosas no estado do Rio de Janeiro no período de novembro de 2015 a julho de 2017. Métodos. Realizou-se um estudo transversal de 298 casos (conforme definição do Ministério da Saúde) notificados à Secretaria de Estado de Saúde do Rio de Janeiro no período estudado. Analisaram-se variáveis demográficas, epidemiológicas, clínicas, radiológicas e laboratoriais, com análise estatística descritiva bivariada e múltipla por regressão logística para estudo de fatores associados ao óbito. Resultados. A idade mediana das mães foi 24 anos; 30,9% relataram febre, e 64,8%, exantema à gestação. A mediana do perímetro cefálico ao nascer foi 29 cm e a do peso foi 2 635 g. O diagnóstico etiológico foi de Zika congênita em 46,0%; de sífilis, toxoplasmose, rubéola, citomegalovírus e vírus herpes simplex (STORCH) em 13,8%, com predomínio da sífilis; e de agente infeccioso não definido em 40,3%. Alterações do SNC diferentes de microcefalia foram descritas em 88,3%, predominando calcificações cerebrais, ventriculomegalia e atrofia cerebral. A letalidade total foi 7,0%, sendo 19,0% nos casos de Zika confirmada laboratorialmente e 22,2% nos de toxoplasmose. Na análise múltipla, o peso ao nascer foi o principal preditor de óbito. Conclusões. Apesar da epidemia de Zika, 13,8% dos casos foram por STORCH. A letalidade e a elevada ocorrência de malformações neurológicas além da microcefalia mostram a gravidade da infecção, com impacto nas famílias e no sistema de saúde.


[ABSTRACT]. Objective. To describe the clinical and epidemiological profile of cases with confirmed microcephaly or central nervous system (CNS) findings associated with congenital Zika virus infection and other infectious etiologies in the state of Rio de Janeiro, Brazil, from November 2015 to July 2017. Method. A cross-sectional study was performed with 298 cases (as defined by the Ministry of Health) communicated to the Rio de Janeiro State Department of Health in the study period. Demographic, epidemiological, clinical, radiological, and laboratory variables were assessed. Descriptive bivariate and multivariable logistic regression analysis was used to determine the association between specific factors and death outcome. Results. The median age of mothers was 24 years; 30.9% reported fever and 64.8% reported a rash during pregnancy. The median head circumference at birth was 29 cm, and median birth weight was 2 635 g. An etiological diagnosis of congenital Zika was made in 46.0%, whereas 13.8% were diagnosed with syphilis, toxoplasmosis, rubella, cytomegalovirus, and herpes simplex infections (STORCH), with predominance of syphilis, and 40.3% had an unspecified infectious agent. CNS findings other than microcephaly were observed in 88.3%, especially intracranial calcifications, ventriculomegaly, and brain atrophy. Overall lethality was 7.0% — 19.0% in laboratory confirmed Zika cases and 22.2% in toxoplasmosis cases. Multivariable analysis revealed birth weight as the main predictor of death. Conclusions. Despite the Zika epidemic, 13.8% of the studied cases were diagnosed with STORCH. The lethality and high frequency of neurological findings beyond microcephaly reflect severe infection, with impact on families and health care system.


[RESUMEN]. Objetivo. Describir el perfil clínico-epidemiológico de los casos confirmados de microcefalia y de alteraciones del sistema nervioso central (SNC) relacionados con la infección congénita por el virus del Zika y otras etiologías infecciosas en el Estado de Río de Janeiro en el período comprendido entre noviembre del 2015 y julio del 2017. Métodos. Se realizó un estudio transversal de 298 casos (según la definición del Ministerio de Salud) notificados a la Secretaría de Estado de Salud de Río de Janeiro en el período objeto de estudio. Se analizaron variables demográficas, epidemiológicas, clínicas, radiológicas y de laboratorio, con un análisis estadístico descriptivo bivariado y de regresión logística múltiple para estudio de los factores relacionados con la defunción. Resultados. La edad mediana de las madres fue de 24 años; un 30,9% informó fiebre y un 64,8%, exantema durante la gestación. La mediana del perímetro cefálico al nacer fue de 29 cm y la del peso, de 2635 g. El diagnóstico etiológico fue de infección congénita por el virus del Zika en un 46,0%; sífilis, toxoplasmosis, rubéola, infección por citomegalovirus e infección por el virus del herpes simple (STORCH) en un 13,8%, con predominio de sífilis; e infección por un agente infeccioso no definido en un 40,3%. Se describieron alteraciones del SNC diferentes de microcefalia en un 88,3%, con predominio de calcificaciones cerebrales, ventriculomegalia y atrofia cerebral. La letalidad total alcanzó 7,0%; se confirmaron en el laboratorio 19,0% de los casos de infección por el virus del Zika y 22,2% de los casos de toxoplasmosis. En el análisis de regresión logística múltiple, el peso al nacer fue el principal pronóstico de defunción. Conclusiones. A pesar de la epidemia de la infección por el virus del Zika, 13,8% de los casos fueron causados por STORCH. La letalidad y la elevada presencia de malformaciones neurológicas, además de microcefalia, muestran la gravedad de la infección y sus repercusiones para las familias y para el sistema de salud.


Assuntos
Zika virus , Microcefalia , Anormalidades Congênitas , Epidemias , Epidemiologia , Brasil , Microcefalia , Anormalidades Congênitas , Epidemias , Epidemiologia , Brasil , Zika virus , Anormalidades Congênitas , Epidemiologia
6.
Rev. cuba. estomatol ; 57(3): e3060, jul.-set. 2020. graf
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1126525

RESUMO

RESUMEN Introducción: Durante la odontogénesis se pueden producir malformaciones congénitas que afectan la forma, el número, el tamaño, la estructura, la posición, el color y la erupción de los dientes. En las personas con discapacidades como parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista, pueden presentarse variedad de anomalías dentales. Objetivo: Describir las anomalías dentales en las condiciones de discapacidad de parálisis cerebral, trastorno del desarrollo intelectual, síndrome de Down y trastorno del espectro autista. Métodos: Se realizó una búsqueda bibliográfica en las bases de datos Clinical Key, Medline, Dialnet y SciELO. Se aplicó la lista de comprobación PRISMA. Análisis e integración de la información: Posterior al proceso de lectura y análisis de la información, se recuperaron 800 artículos de las bases de datos, se eliminaron 590 por encontrarse repetidos. Luego de la discriminación, quedaron para revisar 210, a estos restantes se hizo la revisión de texto completo. Se eliminaron 193 no hacían referencia a anomalías dentales y/o a los trastornos o síndromes. De los 17 restantes, solo 15 cumplieron con los criterios de inclusión. Conclusiones: No se encontraron diferencias para afirmar que algunas de las anomalías y alteraciones presentadas correspondan de manera individual a cada tipo de discapacidad. Sin embargo, el síndrome de Down presenta anomalías dentales relacionadas al estado del paciente. La parálisis cerebral reporta otros hallazgos como bruxismo, debido al deficiente desarrollo muscular, lo que afecta la cavidad bucal y sus estructuras(AU)


ABSTRACT Introduction: During odontogenesis, congenital malformations can occur that affect teeth shape, number, size, structure, position, color and eruption. In people with disabilities such as cerebral palsy, intellectual development disorder, Down syndrome, and autism spectrum disorder, a variety of dental abnormalities can occur. Objective: To describe dental anomalies in such disability conditions as cerebral palsy, intellectual development disorder, Down syndrome and autism spectrum disorder. Methods: A bibliographic search was performed in the databases Clinical Key, Medline, Dialnet and SciELO. The PRISMA checklist was applied. Information analysis and integration: After reading and analyzing the information, 800 articles were retrieved from the databases, of which 590 were deleted because they were repeated. After the discrimination, 210 were pending to review; the remaining ones were reviewed full-text. 193 were deleted because they did not do any reference to dental anomalies and/or disorders or syndromes. Of the remaining 17, only 15 met the inclusion criteria. Conclusions: No differences were found to affirm that some of the anomalies and alterations presented correspond individually to each type of disability. However, Down syndrome has dental abnormalities related to patient condition. Cerebral palsy coincides with other findings such as bruxism, due to poor muscle development, which affects the oral cavity and its structures(AU)


Assuntos
Humanos , Anormalidades Dentárias/terapia , Anormalidades Congênitas/diagnóstico , Pessoas com Deficiência , Odontogênese/fisiologia , Literatura de Revisão como Assunto , Bases de Dados Bibliográficas , Síndrome de Down/diagnóstico , Transtorno do Espectro Autista/diagnóstico
7.
Plast Reconstr Surg ; 146(4): 400e-408e, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32969994

RESUMO

BACKGROUND: Young women with congenital breast asymmetry have impaired psychological well-being and self-esteem. However, little is known regarding the effects of surgical intervention in this population. This cohort study aims to assess postoperative changes in health-related quality of life following surgical treatment of breast asymmetry in young women using a prospective, longitudinal study design. METHODS: From 2008 to 2018, 45 young women undergoing surgical correction of breast asymmetry of benign cause and 101 unaffected, female controls completed the following surveys: Short-Form 36v2, Rosenberg Self-Esteem Scale, and Eating-Attitudes Test-26. Surveys were administered at baseline and at up to 9-year follow-up. RESULTS: Participants with breast asymmetry scored significantly worse than controls at baseline on the Rosenberg Self-Esteem Scale and in two Short-Form 36v2 domains: Social-Functioning and Role-Emotional. Asymmetry participants experienced significant postoperative improvements on the Rosenberg Self-Esteem Scale, and in three Short-Form 36v2 domains: Role-Physical, Social Functioning, and Mental Health. These improvements were sustained for a minimum of 5 years. Postoperatively, asymmetry participants' quality of life was comparable to controls and did not vary by age at the time of surgery, asymmetry severity, or diagnosis. CONCLUSIONS: Surgical treatment of breast asymmetry in young women yields significant and sustained improvements in psychosocial quality of life. Postoperatively, patients returned to a level of functioning commensurate with their peers. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Assuntos
Mama/anormalidades , Mama/cirurgia , Mamoplastia , Qualidade de Vida , Adolescente , Estudos de Coortes , Anormalidades Congênitas/psicologia , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Estudos Longitudinais , Estudos Prospectivos , Autorrelato , Resultado do Tratamento , Adulto Jovem
8.
MMWR Morb Mortal Wkly Rep ; 69(36): 1265-1268, 2020 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-32915168

RESUMO

Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disorders and HL) reported by 50 U.S. state programs were tabulated. The three subtypes of sickle cell disease (SCD) listed as separate disorders on the RUSP (S,S disease; S,beta-thalassemia; and S,C disease) were combined for the current analysis, and the frequencies of the resulting disorders were calculated relative to annual births. During 2015-2017, the overall prevalence was 34.0 per 10,000 live births. Applying that frequency to 3,791,712 live births in 2018,† approximately 12,900 infants are expected to be identified each year with one of the disorders included in the study. The most prevalent disorder is HL (16.5 per 10,000), and the most prevalent DBS disorders are primary congenital hypothyroidism (CH) (6.0 per 10,000), SCD (4.9 per 10,000), and cystic fibrosis (CF) (1.8 per 10,000). Notable changes in prevalence for each of these disorders have occurred since the previous estimates based on 2006 births (2). The number of infants identified at a national level highlights the effect that NBS programs are having on infant health through early detection, intervention, and potential improved health, regardless of geographic, racial/ethnic, or socioeconomic differences.


Assuntos
Anormalidades Congênitas/diagnóstico , Triagem Neonatal , Anormalidades Congênitas/epidemiologia , Humanos , Recém-Nascido , Prevalência , Estados Unidos/epidemiologia
9.
PLoS Med ; 17(9): e1003356, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32986711

RESUMO

BACKGROUND: Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing. Although infant survival of children born with congenital anomalies has improved for many anomaly types in recent decades, there is less evidence on survival beyond infancy. We aimed to systematically review, summarise, and quantify the existing population-based data on long-term survival of individuals born with specific major congenital anomalies and examine the factors associated with survival. METHODS AND FINDINGS: Seven electronic databases (Medline, Embase, Scopus, PsycINFO, CINAHL, ProQuest Natural, and Biological Science Collections), reference lists, and citations of the included articles for studies published 1 January 1995 to 30 April 2020 were searched. Screening for eligibility, data extraction, and quality appraisal were performed in duplicate. We included original population-based studies that reported long-term survival (beyond 1 year of life) of children born with a major congenital anomaly with the follow-up starting from birth that were published in the English language as peer-reviewed papers. Studies on congenital heart defects (CHDs) were excluded because of a recent systematic review of population-based studies of CHD survival. Meta-analysis was performed to pool survival estimates, accounting for trends over time. Of 10,888 identified articles, 55 (n = 367,801 live births) met the inclusion criteria and were summarised narratively, 41 studies (n = 54,676) investigating eight congenital anomaly types (spina bifida [n = 7,422], encephalocele [n = 1,562], oesophageal atresia [n = 6,303], biliary atresia [n = 3,877], diaphragmatic hernia [n = 6,176], gastroschisis [n = 4,845], Down syndrome by presence of CHD [n = 22,317], and trisomy 18 [n = 2,174]) were included in the meta-analysis. These studies covered birth years from 1970 to 2015. Survival for children with spina bifida, oesophageal atresia, biliary atresia, diaphragmatic hernia, gastroschisis, and Down syndrome with an associated CHD has significantly improved over time, with the pooled odds ratios (ORs) of surviving per 10-year increase in birth year being OR = 1.34 (95% confidence interval [95% CI] 1.24-1.46), OR = 1.50 (95% CI 1.38-1.62), OR = 1.62 (95% CI 1.28-2.05), OR = 1.57 (95% CI 1.37-1.81), OR = 1.24 (95% CI 1.02-1.5), and OR = 1.99 (95% CI 1.67-2.37), respectively (p < 0.001 for all, except for gastroschisis [p = 0.029]). There was no observed improvement for children with encephalocele (OR = 0.98, 95% CI 0.95-1.01, p = 0.19) and children with biliary atresia surviving with native liver (OR = 0.96, 95% CI 0.88-1.03, p = 0.26). The presence of additional structural anomalies, low birth weight, and earlier year of birth were the most commonly reported predictors of reduced survival for any congenital anomaly type. The main limitation of the meta-analysis was the small number of studies and the small size of the cohorts, which limited the predictive capabilities of the models resulting in wide confidence intervals. CONCLUSIONS: This systematic review and meta-analysis summarises estimates of long-term survival associated with major congenital anomalies. We report a significant improvement in survival of children with specific congenital anomalies over the last few decades and predict survival estimates up to 20 years of age for those born in 2020. This information is important for the planning and delivery of specialised medical, social, and education services and for counselling affected families. This trial was registered on the PROSPERO database (CRD42017074675).


Assuntos
Mortalidade da Criança/tendências , Anormalidades Congênitas/mortalidade , Nascimento Vivo , Adulto , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Parto/fisiologia , Gravidez , Sistema de Registros , Adulto Jovem
11.
BMC Med Genet ; 21(1): 185, 2020 09 22.
Artigo em Inglês | MEDLINE | ID: mdl-32962661

RESUMO

BACKGROUND: Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Disease Study (NPODS) was a population-based epidemiological study conducted across three ecological regions of Nepal to determine the prevalence and etiology of childhood ocular morbidity and blindness. In Phase II of this study, genetic analysis was performed for children who were found to have congenital ocular anomalies. METHOD: It was a cross sectional descriptive study. A total of 10,270 children across three different ecological regions in Nepal (Low lands, hills, and mountains) underwent ocular examinations in NPODS. Out of 374 (3.6%) of children with ocular abnormalities, 30 were thought to be congenital in nature. Targeted genetic analysis, including genotyping for genes specific to presenting phenotype, was performed for 25 children using serum samples. RESULTS: Out of 25 children, 18 had meaningful genetic results. Analysis revealed one missense alteration G12411T of Zinc Finger Homeobox 4 (ZFHX4) gene in one participant among 10 with congenital ptosis and another missense variation T > C P. Y374 C of Signaling Receptor and Transporter Retinol 6 (STRA6) gene in one participant among 3 with microphthalmos. CONCLUSION: The study is first of its kind from Nepal and mutant genes were unique to Nepalese Population. Further analysis of genetic factors is crucial to better understand genetic association with ocular diseases and conditions. This helps further in genetic counseling and probably gene therapy to prevent blindness from these conditions.


Assuntos
Cegueira/genética , Anormalidades Congênitas/genética , Oftalmopatias/genética , Predisposição Genética para Doença/genética , Mutação de Sentido Incorreto , Adolescente , Altitude , Cegueira/diagnóstico , Cegueira/epidemiologia , Criança , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Estudos Transversais , Oftalmopatias/diagnóstico , Oftalmopatias/epidemiologia , Feminino , Proteínas de Homeodomínio/genética , Humanos , Lactente , Recém-Nascido , Masculino , Proteínas de Membrana/genética , Nepal/epidemiologia , Prevalência , Fatores de Transcrição/genética
12.
Medisan ; 24(4)jul.-ago. 2020. ilus
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1125142

RESUMO

Se describe el caso clínico de una paciente de 28 años de edad, que a las 23,4 semanas de gravidez fue ingresada en el Hospital Ginecoobstétrico Docente Tamara Bunke Bider de Santiago de Cuba con el objetivo de interrumpir el embarazo, por sugerencia de los especialistas del Centro Provincial de Genética Médica, quienes habían detectado una malformación fetal (focomelia de los miembros superiores) en la ecografía del segundo trimestre. A la gestante se le realizó una histerotomía; al ser extraído el feto, se confirmó el diagnóstico ecográfico.


The case report of a 28 years patient is described, she was admitted to Tamara Bunke Bider Teaching Gynaecoobstetric Hospital in Santiago de Cuba at the 23.4 weeks of pregnancy with the objective of interrupting pregnancy, due to the specialists of the Provincial Center of Medical Genetics suggestion who had detected a fetal malformation (phocomelia of the upper limbs) in the echography of the second trimester. When the fetus was removed, a hysterectomy was carried out and the echographic diagnosis was confirmed.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Ectromelia/diagnóstico por imagem , Segundo Trimestre da Gravidez , Ultrassonografia , Genética Médica
14.
Saudi Med J ; 41(8): 779-790, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32789417

RESUMO

[No Abstract Available]    Saudi Med J 2020; Vol. 41 (8): 779-790doi: 10.15537/smj.2020.8.25222 How to cite this article:Yaser A. Faden, Nadia A. Alghilan,  Samiha H. Alawami, Eman S. Alsulmi, Hythem A. Alsum, Yasir A. Katib, Yasser S. Sabr, Fadwah H. Tahir, Nabeel S. Bondagji. Saudi Society of Maternal-Fetal Medicine guidance on pregnancy and coronavirus disease 2019. Saudi Med J 2020; Vol. 41 (8): 779-790. doi: 10.15537/smj.2020.8.25222.


Assuntos
Infecções por Coronavirus/terapia , Pneumonia Viral/terapia , Complicações Infecciosas na Gravidez/terapia , Cuidado Pré-Natal/métodos , Anticoagulantes/uso terapêutico , Antivirais/uso terapêutico , Betacoronavirus , Anormalidades Congênitas/virologia , Infecções por Coronavirus/tratamento farmacológico , Infecções por Coronavirus/transmissão , Estado Terminal , Parto Obstétrico/métodos , Feminino , Heparina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Recém-Nascido , Transmissão Vertical de Doença Infecciosa , Sulfato de Magnésio/uso terapêutico , Pandemias , Perinatologia , Equipamento de Proteção Individual , Pneumonia Viral/transmissão , Cuidado Pós-Natal , Gravidez , Resultado da Gravidez , Arábia Saudita , Sociedades Médicas , Tromboembolia/prevenção & controle , Tocolíticos/uso terapêutico
17.
Mutat Res ; 785: 108320, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32800274

RESUMO

It is well established that maternal age is associated with a rapid decline in the production of healthy and high-quality oocytes resulting in reduced fertility in women older than 35 years of age. In particular, chromosome segregation errors during meiotic divisions are increasingly common and lead to the production of oocytes with an incorrect number of chromosomes, a condition known as aneuploidy. When an aneuploid oocyte is fertilized by a sperm it gives rise to an aneuploid embryo that, except in rare situations, will result in a spontaneous abortion. As females advance in age, they are at higher risk of infertility, miscarriage, or having a pregnancy affected by congenital birth defects such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Turner syndrome (monosomy X). Here, we review the potential molecular mechanisms associated with increased chromosome segregation errors during meiosis as a function of maternal age. Our review shows that multiple exogenous and endogenous factors contribute to the age-related increase in oocyte aneuploidy. Specifically, the weight of evidence indicates that recombination failure, cohesin deterioration, spindle assembly checkpoint (SAC) disregulation, abnormalities in post-translational modification of histones and tubulin, and mitochondrial dysfunction are the leading causes of oocyte aneuploidy associated with maternal aging. There is also growing evidence that dietary and other bioactive interventions may mitigate the effect of maternal aging on oocyte quality and oocyte aneuploidy, thereby improving fertility outcomes. Maternal age is a major concern for aneuploidy and genetic disorders in the offspring in the context of an increasing proportion of mothers having children at increasingly older ages. A better understanding of the mechanisms associated with maternal aging leading to aneuploidy and of intervention strategies that may mitigate these detrimental effects and reduce its occurrence are essential for preventing abnormal reproductive outcomes in the human population.


Assuntos
Aneuploidia , Proteínas de Ciclo Celular/genética , Proteínas Cromossômicas não Histona/genética , Segregação de Cromossomos/genética , Anormalidades Congênitas/genética , Idade Materna , Anormalidades Congênitas/prevenção & controle , Feminino , Humanos , Pontos de Checagem da Fase M do Ciclo Celular/genética , Meiose/genética , Mitocôndrias/fisiologia , Oócitos/fisiologia
18.
Washington, D.C.; OPS; 2020-08-13.
em Espanhol | PAHO-IRIS | ID: phr3-51964

RESUMO

En América Latina y el Caribe aproximadamente 1 de cada 5 defunciones durante los primeros 28 días de vida se debe a defectos congénitos. Entre 1990 y 2017, la tasa de mortalidad neonatal se redujo de 23 a 10 defunciones neonatales por cada 1.000 nacidos vivos, lo que representa una reducción de 58%. Sin embargo, las desigualdades en la mortalidad neonatal constituyen un aspecto a destacar: en 2008, las tasas de mortalidad neonatal estimadas en los países de la subregión variaban entre 3,8 y 24,6 por 1.000 nacidos vivos. Los defectos congénitos contribuyen sustancialmente a la carga de morbimortalidad en la Región de las Américas. Existen numerosas iniciativas para concientizar sobre este problema y para implementar acciones de vigilancia en los sectores de salud y de gobierno. Sin embargo, todavía hay un largo camino por recorrer. Tras tomar en cuenta todos esos aspectos, el Centro Latinoamericano de Perinatología y Salud de la Mujer de la Organización Panamericana de la Salud, en colaboración con el Banco Mundial, consideró oportuno analizar la situación regional en relación con los defectos congénitos, desde la perspectiva epidemiológica y programática, así como analizar los desafíos para orientar a los países en el abordaje de tales defectos, sus determinantes y consecuencias, con el propósito de contribuir a no dejar a nadie atrás.


Assuntos
Anormalidades Congênitas , Monitoramento Epidemiológico , Registros de Doenças , América
19.
Eur. j. anat ; 24(4): 297-309, jul. 2020. graf, tab, ilus
Artigo em Inglês | IBECS | ID: ibc-193965

RESUMO

The circle of Willis supplies blood to the brain and other pivotal structures, and has considerable importance in clinical teaching and practice. Studies have described angiographic anatomical varitions in the circle of Willis in populations diverse in age, gender, race, and geographical region using different research methodologies, including study designs and diagnostic modalities. This comprehensive review compares and contrasts the findings of these studies in terms of prevalence, comorbidities, and clinical applications of anatomical variations across these different studies. More-over, an embryological and physiological basis of these variations has been discussed in this review


No disponible


Assuntos
Humanos , Angiografia , Variação Anatômica , Círculo Arterial do Cérebro/anatomia & histologia , Círculo Arterial do Cérebro/diagnóstico por imagem , Estudos Transversais , Anormalidades Congênitas
20.
Rev. bioét. derecho ; (49): 141-154, jul. 2020.
Artigo em Português | IBECS | ID: ibc-192099

RESUMO

O diagnóstico seguro de malformações congênitas possibilitado pelo avanço tecnológico da propedêutica fetal possibilita o exercício da autonomia reprodutiva da gestante, embora suscite dilemas éticos e jurídicos de difícil solução, como a opção pelo aborto e a tomada de decisões em neonatos com escassas possibilidades de sobrevivência. As decisões em fim de vida e o abandono de técnicas terapêuticas fúteis que não alteram o curso natural da doença despertam conflitos éticos entre a equipe de saúde e os familiares. Nesse cenário, importa analisar o âmbito de proteção aos direitos das pessoas com deficiência no Brasil e sua aplicação aos neonatos com graves malformações congênitas, visando contribuir ao debate sobre a morte digna no período neonatal


El diagnóstico efectivo de malformaciones congénitas que resulta del avance tecnológico de la propedéutica fetal posibilita el ejercicio de la autonomía reproductiva de la mujer embarazada, aunque presente dilemas éticos y jurídicos de solución difícil, como la opción por el aborto y la toma de decisiones en casos de recién nacidos con baja posibilidad de sobrevivir. Decisiones de fin de la vida y el abandono de técnicas terapéuticas fútiles que no cambian la evolución natural de la enfermedad producen conflictos éticos entre el equipo de salud y la familia. En ese escenario, es importante analizar el ámbito de protección a los derechos de las personas con deficiencia en Brasil y su aplicación a los recién nacidos con malformaciones congénitas graves, con el objetivo de contribuir al debate sobre la muerte digna en el periodo neonatal


The diagnostic certainty of congenital malformations, made possible by the technological advances in fetal propaedeutics, enables the exercise of reproductive autonomy by the pregnant woman, although it results in ethical and legal dilemmas that are difficult to solve, such as the option for abortion, and decision-making regarding newborns with meager survival possibility. End-of-life decisions and the abandonment of futile therapeutic techniques that do not alter the natural course of the illness give rise to ethical conflicts between the health team and family members. In this setting, it is important to analyze the scope of protection of the rights of handicapped persons in Brazil, and how it applies to the newborn with severe congenital malformations, with the goal of contributing to dignified death in the neonatal period


El diagnòstic efectiu de malformacions congènites que resulta de l'avanç tecnològic de la propedèutica fetal possibilita l'exercici de l'autonomia reproductiva de la dona embarassada, encara que presenta dilemes ètics I jurídics de solució difícil, com l'opció per l'avortament I la presa de decisions en casos de nounats amb baixa possibilitat de sobreviure. Les decisions de final de la vida I l'abandonament de tècniques terapèutiques fútils que no canvien l'evolució natural de la malaltia donen lloc a conflictes ètics entre l'equip de salut I la família. En aquest escenari, és important analitzar l'àmbit de protecció dels drets de les persones amb deficiència a Brasil I la seva aplicació als nadons amb malformacions congènites greus, a fi de contribuir al debat sobre la mort digna en el període neonatal


Assuntos
Humanos , Gravidez , Recém-Nascido , Anormalidades Congênitas/genética , Temas Bioéticos , Tomada de Decisões/ética , Doenças do Recém-Nascido/genética , Futilidade Médica/ética , Viabilidade Fetal/genética , Brasil , Futilidade Médica/legislação & jurisprudência , Defesa da Criança e do Adolescente/ética , Diagnóstico Pré-Natal/ética , Troca Materno-Fetal/genética
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