Infección congénita por citomegalovirus: evaluación de diagnóstico y desafíos en la detección temprana / Congenital cytomegalovirus infection: diagnosis assessment and challenges in early detection / Infecção congênita por citomegalovírus: avaliação do diagnóstico e desafios na detecção precoce

Resumen La detección temprana de la infección congénita por citomegalovirus (cCMV) en pacientes pediátricos permite la implementación de un tratamiento apropiado con el fin de reducir la gravedad de las secuelas asociadas a esta infección, lo cual impacta directamente en la calidad de vida del paciente. El objetivo de este estudio fue determinar la tasa de positividad de infección por CMV en niños con sospecha clínica de infección congénita y analizar las estrategias utilizadas en la confirmación diagnóstica de laboratorio. Para ello se realizó un análisis retrospectivo de muestras de niños con sospecha clínica de cCMV, las cuales fueron evaluadas en el laboratorio de Virología de la institución mediante una reacción en cadena de la polimerasa en tiempo real (qPCR) específica para citomegalovirus (CMV). Fue incluido un total de 698 pacientes y se analizaron 125 muestras de sangre de tarjetas de screening neonatal (TSN) y 659 muestras de orina en el período comprendido entre el 1 de enero de 2016 y el 31 de diciembre de 2022. El diagnóstico de cCMV fue confirmado en 24 pacientes mediante la presencia del virus en muestras de orina o TSN según la edad del paciente, lo que correspondió al 3,4% (24/698) del total de los pacientes estudiados.

Abstract Early detection of congenital cytomegalovirus (cCMV) infection in pediatric patients enables the implementation of appropriate treatment to reduce the severity of associated sequelae, directly impacting the child's quality of life. The aim of this study was to determine the CMV positivity rate in children clinical suspected of congenital infection and to analyse the strategies used in laboratory diagnostic confirmation. A retrospective analysis of samples from children with clinical suspected cCMV was evaluated by the Virology Laboratory of this institution using real-time polymerase chain reaction (qPCR) specific for cytomegalovirus (CMV). A total of 698 patients were included, analysing 125 samples from neonatal screening cards (NSC) and 659 urine samples in the period between January 1, 2016 and December 31, 2022. The diagnosis of congenital CMV (cCMV) was confirmed in 24 patients through the presence of the virus in urine or NSC samples, corresponding to 3.4% (24/698) of the total patients studied.

Resumo A detecção precoce da infecção congênita pelo citomegalovírus (cCMV) em pacientes pediátricos permite a implementação de um tratamento adequado com o objetivo de reduzir a gravidade das sequelas associadas a esta infecção, o que impacta diretamente na qualidade de vida da criança. O objetivo deste estudo foi determinar a taxa de positividade de infecção por CMV em crianças com suspeita de infecção congênita e analisar as estratégias utilizadas na confirmação diagnóstica laboratorial. Para isso, foi realizado uma análise retrospectiva de amostras de crianças com suspeita de cCMV, as quais foram estudiadas pelo laboratório de Virologia da instituição por meio de reação em cadeia da polimerase em tempo real (qPCR) específica para citomegalovírus (CMV). Um total de 698 pacientes foram incluídos, sendo analisadas 125 amostras de sangue de cartões de triagem neonatal (TSN) e 659 amostras de urina no período entre 1º de janeiro de 2016 e 31 de dezembro de 2022. O diagnóstico de cCMV foi confirmado em 24 pacientes pela presença do vírus em amostras de urina ou TSN, de acordo com a idade do paciente, correspondendo a 3,4% (24/698) do total de pacientes estudados.

Evaluation of the quality of prenatal care in Colombia during the 2016 Zika outbreak in endemic and non-endemic areas / Evaluación de la calidad del cuidado prenatal en Colombia durante la epidemia de Zika en el 2016 en regiones endémicas y no endémicas

Objetive: To evaluate the quality of prenatal care during the outbreak of Zika virus infection in endemic and non-endemic vector-borne regions in Colombia. Materials and methods: A descriptive study of prenatal care supplemented by interviews to explore personal experiences during the epidemic. A total of 40 pregnant women in endemic areas and 44 in nonendemic areas participated. Information collected included previous pregnancies, reasons for starting prenatal care, information about Zika, prenatal care (activities of doctors, nurses, laboratories, and images), and perceptions of quality. Then, 8 interviews were conducted with pregnant women diagnosed with Zika. Questioned about knowledge of Zika and the quality of medical care services. Results: Problems with laboratories and diagnostic images were found in both regions and dehumanizing treatment in the endemic region. Women from the endemic region received news and communications about the effects of Zika during pregnancy, causing anxiety and fear among some women. The quality of health care was not what the women expected and they thought they would receive more care from doctors and nurses. Discussion: Our findings show deficiencies in education provided in health institutions. The experience during prenatal control in the endemic regions was imprecise and the information came from other sources, different from the health sector. Adittionally, support and follow-up was deficient as well. It's possible that health professionals have few knowledge about information management, which generated confusion, fear and uncertainty among the pregnant women about the adverse effects on the newborns. Conclusions: Findings suggest deficiencies in the technical quality of the prenatal care provided, particularly in the region that was endemic for vector-borne diseases. Reproductive health services and the technical quality of prenatal care need to be strengthened, especially during a sanitary crisis.

Objetivo: Evaluar la calidad de la atención prenatal durante la epidemia de Zika en regiones endémicas y no endémicas de infecciones trasmitidas por vectores en Colombia. Materiales y Métodos: Estudio descriptivo de la atención prenatal complementado con entrevistas, con el fin de explorar experiencias personales durante la epidemia. Participaron 40 gestantes en zona endémica y 44 en no endémicas. La información recolectada incluyó embarazos previos, razones para iniciar control prenatal, información sobre Zika, control prenatal (actividades de médicos, enfermeras, laboratorios e imágenes) y percepción de calidad. Luego se realizaron 8 entrevistas a gestantes con diagnóstico de Zika. Se interrogó sobre conocimiento del Zika y calidad de los servicios de atención médica. Resultados: Se encontraron problemas con laboratorios e imágenes diagnósticas en ambas regiones y trato deshumanizado en la región endémica. Las gestantes en la región endémica recibieron noticias y comunicados sobre los efectos de Zika durante el embarazo, lo que causó ansiedad y miedo en algunas mujeres. La calidad de la atención medica no era la deseada y pensaron que recibirían mejor atención de médicos y enfermeras. Discusión: Nuestros hallazgos demuestran educación deficiente en las instituciones de salud. La experiencia durante el control prenatal en las regiones endémicas fue imprecisa y venía de fuentes diferentes al sector salud. Además, el soporte y seguimiento fue deficiente. Es probable que el personal de salud tenga poco conocimiento sobre cómo manejar la información, lo cual generó confusión, miedo e incertidumbre entre las gestantes sobre los efectos adversos en los bebes. Conclusiones: Los hallazgos sugieren deficiencia en la calidad técnica de la atención prenatal, particularmente en la región endémica. Es necesario fortalecer los servicios de salud reproductiva y la calidad técnica de la atención prenatal, especialmente durante crisis sanitaria.

The CUIDA Chagas Project: towards the elimination of congenital transmission of Chagas disease in Bolivia, Brazil, Colombia, and Paraguay

ABSTRACT Background: Mother-to-child transmission of Chagas disease (CD) has become a relevant problem in both endemic and non-endemic areas. Methods: Description of the CUIDA Chagas Project - Communities United for Innovation, Development and Attention for Chagas disease'. Results: Through innovative and strategic research, this project will provide improved diagnostic and treatment options as well as replicable implementation models that are adaptable to different contexts. Conclusions: By integrating test, treat and care actions for CD into primary health care practices, the burden of CD on people and health systems may be significantly reduced.

Microcephaly caused by or associated with congenital infections in the last 20 years in Brazil: a systematic review

ABSTRACT This systematic review aimed to identify the pathogens causing or associated with congenital microcephaly in Brazil in the last 20 years due to the lack of official information by the Health Authorities and, as a consequence the uncertainty on the real infectious etiology of congenital microcephaly. A review protocol was prepared according to the PRISMA recommendation, using the PubMed, SciELO and LILACS databases to search for references presenting original data on microcephaly caused by or associated with congenital infectious in Brazil, using the descriptors "MICROCEPHALY AND INFECTION". The search ended on 30/Jun/2020. All selected titles were read in full and analyzed independently by the three reviewers. After searching the databases, 2,389 articles were selected for title review. Of these, 109 were excluded due to duplicates and 2,236 according to the criteria defined in the review. Only 44 met the eligibility criteria and were therefore read in full. Data extraction was performed on 10 articles, all published after 2015. Seven studies were literature reviews or case series, only two were case-control, and one was a cross-sectional study. As the studies focused on the period of the ZIKV epidemic in Brazil, the cases of congenital microcephaly between 2015 and 2017 were attributed to maternal infection by this virus when it was not possible to prove the presence of other etiological agents. Among the TORCH agents, a predominance of syphilis was observed. The analyzed studies did not add consistent information about the infectious causes or association of microcephaly in Brazil outside the period of ZIKV epidemic, revealing the need for more studies on the subject.

Recomendaciones para el diagnóstico y manejo de la infección por citomegalovirus en la mujer embarazada y el recién nacido / Recommendations for the diagnosis and management of cytomegalovirus infection in pregnant woman and newborn infant

Resumen La Sociedad Chilena de Infectología, a través de su Comité de Infecciones Neonatales, en conjunto con la Sociedad Chilena de Obstetricia y Ginecología, proponen un documento de diagnóstico y manejo de la Infección por Citomegalovirus en la Mujer Embarazada y el Recién Nacido. Esta guía aborda el manejo de la infección en el binomio, su enfrentamiento diagnóstico y terapéutico, orientado al equipo de salud que atiende a mujeres embarazadas y recién nacidos con infección por citomegalovirus (CMV) en Chile. Considera la situación epidemiológica global y latinoamericana, con recomendaciones para la evaluación clínica y de laboratorio; establece criterios de diagnóstico, propone enfoques terapéuticos de acuerdo a la situación clínica, analiza las medidas de prevención y establece una propuesta nacional para el seguimiento de esta enfermedad. Se ha puesto especial énfasis en entregar, de forma práctica, y con la mayor evidencia posible, las recomendaciones para el manejo del binomio con infección por CMV.

Abstract The Chilean Society of Infectology, through its Neonatal Infections Committee in conjunction with the Chilean Society of Obstetrics and Gynecology, propose a document for the Diagnosis and Management of Cytomegalovirus Infection in Pregnant Woman and Newborn Infant. This guideline suggests the management of mother and child infection, its diagnostic and therapeutic options. Considers the global and Latin American epidemiology, with recommendations for clinical and laboratory evaluation; diagnostic criteria, therapeutic approaches according to the clinical situation, analyzes prevention measures and establishes a national proposal for monitoring this disease.

Recomendaciones para el diagnóstico y el manejo de la infección por citomegalovirus en la mujer embarazada y el recién nacido / Recommendations for the diagnosis and management of cytomegalovirus infection in pregnant women and newborns

Resumen La Sociedad Chilena de Infectología, a través de su Comité de Infecciones Neonatales, en conjunto con la Sociedad Chilena de Obstetricia y Ginecología, proponen un documento de diagnóstico y manejo de la infección por citomegalovirus (CMV) en la mujer embarazada y el recién nacido. Esta guía aborda el manejo de la infección en el binomio, su enfrentamiento diagnóstico y terapéutico, orientado al equipo de salud que atiende a mujeres embarazadas y recién nacidos con infección por CMV en Chile. Considera la situación epidemiológica global y latinoamericana, con recomendaciones para la evaluación clínica y de laboratorio; establece criterios de diagnóstico, propone enfoques terapéuticos de acuerdo a la situación clínica, analiza las medidas de prevención y establece una propuesta nacional para el seguimiento de esta enfermedad. Se ha puesto especial énfasis en entregar, de forma práctica, y con la mayor evidencia posible, las recomendaciones para el manejo del binomio con infección por CMV.

Abstract The Chilean Society of Infectology, through its Neonatal Infections Committee in conjunction with the Chilean Society of Obstetrics and Gynecology, propose a document for the Diagnosis and Management of Cytomegalovirus Infection in Pregnancy and Newborn. This guideline suggests the management of mother and child infection, its diagnostic and therapeutic options. Considers the global and Latin American epidemiology, with recommendations for clinical and laboratory evaluation, diagnostic criteria, therapeutic approaches according to the clinical situation, analyzes prevention measures and establishes a national proposal for monitoring this disease.

Acompanhamento audiológico de lactente com risco para sífilis congênita: relato de caso / Audiological follow up of an infant affected by congenital syphilis: case report

Objetivo: descrever o acompanhamento audiológico de uma criança com exame sorológico positivo para sífilis. Caso Clínico: E.G.M.L, com sorologia positiva para sífilis, com dois dias de vida, obteve resultado "falha" na Triagem Auditiva Neonatal, com Emissões Otoacústicas Evocadas Transientes. Encaminada para o ambulatório da Clínica Escola de Fonoaudiologia, da Universidade Estadual da Bahia, retornou com quatro meses, quando realizou reteste das Emissões Otoacústicas Evocadas Transientes, que permaneceram ausentes; também se submeteu à imitanciometria, onde foram obtidas curvas timpanométricas "pico único". A avaliação da condução nervosa com Potencial Evocado Auditivo do Tronco Encefálico do Tronco Encefálico mostrou-se normal na orelha esquerda, com limiares eletrofisiológicos presentes até a intensidade de 50 dB. Porém, houve despertar do sono e não foi possível avaliar a orelha direita. Em nova reavaliação, aos oito meses, a condução nervosa pelo mesmo processo apresentou normalidade na orelha direita. As condições nutricionais de E.G.M.L. eram então críticas, com desnutrição acentuada. O atendimento no âmbito audiológico foi temporariamente suspenso e houve encaminhamento para o setor de fisioterapia e nutrição da Universidade do Estado da Bahia. Discussão: o levantamento de questões audiológicas, em grupos de risco para alterações auditivas, visa à reabilitação e à garantia das condições ideais de comunicação. Neonatos com detecção precoce de alterações auditivas são candidatos ideais à amplificação e reabilitação. Conclusão: crianças com risco para sífilis congênita precisam ser avaliadas na Triagem Auditiva e acompanhadas no seguimento. Entretanto, algumas vezes torna-se difícil conscientizar a família. Essa continuidade é importante para assegurar a integridade dos sentidos e, no caso da audição, para favorecer o desenvolvimento adequado da criança.

Objective: to describe the audiologic follow-up of a child testing positive in the serological test for syphilis. Case: E.G.M.L. has positive syphilis serology and within two days of life presented a Newborn Hearing Screening result considered fail and Transient-evoked Otoacoustic Emissions (TEOAE). She was referred to the outpatient clinic of the Clinical School of Speech-Language Therapy of State University of Bahia (UNEB) to where she returned after four months to submit to a retest of TEOAE which remained absent and an immittance test that presented a single-peaked tympanometric shape. The evaluation of nerve conduction related to Auditory Brainstem Response (ABR) was normal in the left ear presenting thresholds up to 50 dB. However, as she awakened, it was not possible to assess the right ear. However, in a new reassessment, which only occurred when she was at eight months of age, the nerve conduction related to ABR was normal in the right ear. The nutritional status of E.G.M.L at eight months of age was critical, she was severely undernourished. The hearing care service was temporarily suspended, then she was referred to the UNEB physiotherapy and nutrition sector. Discussion: the purpose of the survey on audiological issues among infectious risk groups is to make an early diagnosis of hearing disorders in order to promote rehabilitation and improve communication functions. Neonates with hearing loss at such a young age are the best candidates for amplification and rehabilitation. Conclusion: Children at risk for congenital syphilis need to be evaluated in terms of Hearing Screening and to be monitored, even though it sometimes becomes difficult to convince the family about that. It is important to keep this process in order to assure the integrity of the senses, especially in terms of the audiologic system, and to promote the adequate development of the child.

Follow-up of toxoplasmosis during pregnancy: ten-year experience in a University hospital in southern Brazil / Acompanhamento da toxoplasmose durante a gravidez: uma década de experiência em um hospital universitário no Sul do Brasil

Abstract Objective To describe a population of pregnant women diagnosed with toxoplasmosis and their respective newborns, describing the hospital protocol for treatment and follow-up. Methods Retrospective cohort of pregnant women with acute toxoplasmosis infection and risk of transplacental transmission who were sent to the Fetal Medicine Group of Hospital de Clínicas de Porto Alegre (HCPA) between - January 1, 2006 and December 31, 2016. All patients with confirmed disease were included. The diagnostic protocol and treatment were applied; a polymerase chain reaction (PCR) analysis of the amniotic fluid was used to diagnose toxoplasmosis and determine the treatment. The newborns were followed up at the pediatric outpatient clinic specializing in congenital infection. The patients who were not followed up or were not born in the HCPA were excluded. Results A total of 65 patients were confirmed to have gestational toxoplasmosis; 40 performed amniocentesis, and 6 (15%) were identified as having positive PCR in the amniotic fluid. In five of those cases, this result associated with the gestational age defined the triple therapy during pregnancy, and in one case, it defined the monotherapy (advanced gestational age). A total of 4 of these newborns were treated from birth with triple therapy for 10months, 1 was not treated (due to maternal refusal), and 1 progressed to death within the first 54 hours of life due to complications of congenital toxoplasmosis. Of the 34 remaining cases with a negative PCR, 33 were treated with monotherapy and 1 was treated with triple therapy (ultrasound findings); of these children, 9 (26.5%) presented negative immunoglobulin G (IgG), 24 (70.6%) presented positive IgG (but none presented positive immunoglobulin M [IgM]), and 1 (2,9%) presented alterations compatible with congenital disease and started treatment with the triple therapy soon after birth. Out of the total sample of 60 patients, among the 25 who did not perform amniotic fluid PCR, 5 were treated with triple therapy (ultrasound findings/prior treatment) and 20 patients were submitted to monotherapy; only two newborns underwent treatment for congenital toxoplasmosis. Among the 65 cases of gestational toxoplasmosis, 6 (9,2%) children had a diagnosis of congenital toxoplasmosis, and 2 patients with triple therapy felt severe adverse effects of the medications. Conclusions The present study suggests that research on PCR screening of the amniotic fluid may be useful to identify patients with a higher potential for fetal complications, who may benefit from the poly-antimicrobial treatment. Patients with negative PCR results must continue to prevent fetal infection with monotherapy, without risk of fetal or maternal impairment.

Resumo Objetivo Descrever uma população de pacientes diagnosticadas com toxoplasmose na gestação e seus respectivos recém-nascidos, relatando o protocolo do hospital durante o tratamento e seguimento. Métodos Coorte retrospectiva de gestantes com infecção aguda por toxoplasmose e risco de transmissão transplacentária, encaminhadas para acompanhamento pelo Grupo deMedicina Fetal doHospital de Clínicas de Porto Alegre (HCPA) entre 1o de janeiro de 2006 e 31 de dezembro de 2016. Todas as pacientes comdoença confirmada foram incluídas. O protocolo de diagnóstico e tratamento foi aplicado; uma análise da reação em cadeia da polimerase (RCP) no líquido amniótico foi utilizada para diagnosticar a toxoplasmose e determinar o tratamento. Os recém-nascidos foram acompanhados no ambulatório de pediatria especializadoeminfecções congênitas. Pacientes que não foramseguidas ou cujo parto não foi feito no hospital foram excluídas. Resultados A toxoplasmose gestacional foi confirmada em 65 pacientes; 40 realizaram amniocentese, e 6 (15%) foram identificadas com RCP positiva no líquido amniótico. Este resultado associado à idade gestacional definiu a terapia tríplice durante a gestação em 5 casos, e a monoterapia em 1 caso (por idade gestacional avançada). Quatro destas crianças foram tratadas desde o nascimento com terapia tríplice por 12 meses, 1 não foi tratada (por recusa materna), e 1 evoluiu com óbito dentro das primeiras 54 horas de vida devido a complicações da toxoplasmose congênita. Dos 34 casos remanescentes com RCP negativa, 33 foram tratados com monoterapia, e 1 foi tratado com terapia tríplice (por achados ultrassonográficos); destes recém-nascidos, 9 (26,5%) tiveram imunoglobulina G (IgG) negativa, 24 (70,6%) tiveram IgG positiva, mas nenhum apresentou imunoglobulina M (IgM) positiva, e 1 (2,9%) apresentou alterações compatíveis comdoença congênita e iniciou a terapia tríplice logo após o nascimento. Entre as 25 pacientes que não fizeram RCP no líquido amniótico, 5 foram tratadas com terapia tríplice (por achados ultrassonográficos/ tratamento prévio) e 20 receberam monoterapia; somente 2 recém-nascidos receberam tratamento para toxoplasmose congênita. Entre os 65 casos de toxoplasmose gestacional, 6 (9,2%) recém-nascidos tiveram o diagnóstico de toxoplasmose congênita. Um total de 2 pacientes submetidas à terapia tríplice apresentaram efeitos adversos severos das medicações utilizadas. Conclusão Este estudo sugere que a triagem da RCP para toxoplasmose do líquido amniótico pode ser útil no rastreamento de pacientes com maior potencial para complicações fetais, que podem se beneficiar do tratamento poli antimicrobiano. Pacientes com RCP negativa devem continuar a prevenir a infecção fetal com monoterapia, sem risco de comprometimento fetal ou materno.

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil / Prevalência e causas da microcefalia congênita sem a presença do surto do vírus Zika no Sul do Brasil

Abstract Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection was at its peak in northeast Brazil. Methods: This was a cross-sectional study where all notifications of congenital microcephaly in the state of Rio Grande do Sul were included for analysis. Evaluation of cases followed the guidelines of the Brazilian Ministry of Health. Dysmorphological and neurological evaluations were performed by a specialized team, and genetic tests and neuroimaging were performed when clinically indicated. STORCH infections were diagnosed using standard tests. ZIKV infection was diagnosed through maternal serum RT-PCR and/or neuroimaging associated with clinical/epidemiological criteria. Results: From 153 744 registered live births in the study period, 148 cases were notified, but 90 (60.8%) of those were later excluded as "non-confirmed" microcephaly. In the 58 confirmed cases of microcephaly (prevalence = 3.8/10 000 live births), congenital infections (syphilis, toxoplasmosis, cytomegalovirus, and ZIKV) constituted the predominant etiology (50.0%), followed by isolated CNS (15.5%), and genetic syndromes (10.3%). Congenital ZIKV syndrome (CZS) with typical phenotype was diagnosed in three cases (5.2% of all confirmed microcephaly cases or 10.4% of all congenital infections). Conclusion: In Rio Grande do Sul, where no outbreak of ZIKV infection was recorded, congenital infections were the leading cause of congenital microcephaly, and the attributable risk for CZS in the etiology of microcephaly was 5.2%.

Resumo: Objetivo: Identificar as causas da microcefalia congênita no Rio Grande do Sul, Região Sul do Brasil, onde não foi detectado surto de ZIKV, de dezembro de 2015 a dezembro de 2016. Esse foi o período em que a infecção por ZIKV estava em seu auge no Nordeste do Brasil. Métodos: Este é um estudo transversal no qual todas as notificações de microcefalia congênita no estado do Rio Grande do Sul foram incluídas para análise. A avaliação dos casos seguiu as orientações do Ministério da Saúde. A avaliação dismorfológica e neurológica foi feita por uma equipe especializada e os testes genéticos e as neuroimagens foram feitos quando indicado clinicamente. As infecções STORCH (Sífilis, Toxoplasmose, Rubéola, Citomegalovírus e Herpes simples) foram diagnosticadas utilizando testes padrão. A infecção por ZIKV foi diagnosticada por meio da transcriptase reversa seguida de reação em cadeia da polimerase (RT-PCR) no soro materno e/ou neuroimagem associada a critérios clínicos/epidemiológicos. Resultados: De 153.744 nascidos vivos registrados no período do estudo, 148 bebês foram casos notificados, porém 90 (60,8%) casos foram excluídos posteriormente como microcefalia "não confirmada". Nos 58 casos confirmados de microcefalia (prevalência = 3,8/10.000 nascidos vivos), as infecções congênitas (sífilis, toxoplasmose, citomegalovírus e ZIKV) constituíram a etiologia predominante (50,0%), seguidas de doenças ligadas ao SNC isolado (15,5%) e síndromes genéticas (10,3%). A síndrome congênita do ZIKV (SCZ) com fenótipo típico foi diagnosticada em três casos (5,2% de todos os casos confirmados de microcefalia ou 10,4% de todas as infecções congênitas). Conclusão: No Rio Grande do Sul, Brasil, onde não foi registrado surto de infecção por ZIKV, a principal causa de microcefalia congênita foram infecções congênitas e o risco atribuível para SCZ na etiologia de microcefalia foi de 5,2%.

Infección por citomegalovirus humano en neonatos de un hospital público de Mérida, Yucatán / Human cytomegalovirus infection in neonates from a public hospital in Mérida, Yucatán

Resumen Introducción: El citomegalovirus humano es reconocido como la causa más común de infección viral congénita, la cual puede darse como resultado de infección primaria, reinfección o reactivación en la mujer embarazada; además, puede ocasionar retraso en el desarrollo neuronal y pérdida auditiva sensoneural en el neonato. Objetivo: Identificar la infección por citomegalovirus humano en neonatos por PCR en tiempo real (PCR-TR) y cultivo celular. Método: Estudio observacional, longitudinal y retrospectivo con muestras de hisopado oral provenientes de 362 neonatos nacidos en un periodo de 10 meses en un hospital público de Mérida, Yucatán. Se realizó PCR-TR para la detección de citomegalovirus humano. Se obtuvo cultivo celular primario de fibroblastos a partir de tejido de prepucio humano para recuperar el virus. Se siguieron solo los casos positivos. Resultados: Se encontró 0.86 % de infección por citomegalovirus humano por PCR-TR. No se recuperó el virus en cultivo. En las visitas de seguimiento, la salud sensorial y el neurodesarrollo fueron adecuados. Conclusión: La prevalencia de infección por citomegalovirus humano en neonatos fue similar a la de reportes mundiales y solo pudo evidenciarse por PCR. La infección asintomática detectada entre las 12 a 24 horas del nacimiento no tuvo consecuencias a largo plazo.

Abstract Introduction: Human cytomegalovirus (HCMV) is recognized as the most common cause of congenital viral infection, which can occur as a result of primary infection, reinfection or infection reactivation in the pregnant woman and be the cause of delay in neuronal development and sensorineural hearing loss in the neonate. Objective: To identify CMVH infection in newborns by real-time polymerase chain reaction (RT-PCR) and cell culture. Method: Observational, cross-sectional, retrospective study with oral swab samples from 362 neonates born within a 10-month period in a public hospital of Mérida, Yucatán. RT-PCR was carried out for the detection of HCMV. Fibroblast primary cell culture was obtained from human foreskin tissue to isolate the virus. Only positive cases were followed. Results: A prevalence of HCMV infection of 0.86 % was found by RT-PCR. No virus was isolated with cell culture. In the follow-up visits, sensory health and neurodevelopment were adequate. Conclusion: The prevalence of HCMV infection is similar to that of worldwide reports, and only was detected by RT-PCR. Asymptomatic infection detected 12-14 h after birth had no long-term health consequences.

Syphilis in pregnancy: the reality in a public hospital / Sífilis na gestação: a realidade em um hospital público

Abstract Objective: The present study assessed epidemiological and obstetrical data from pregnant women with syphilis at the Hospital de Clínicas of the Universidade Federal do Triângulo Mineiro (UFTM, in the Portuguese acronym), describing this disease during pregnancy and its vertical transmission for future healthcare actions. Methods: Records from pregnant women who had been admitted to the Obstetrics Department of the Hospital de Clínicas of the UFTM and were diagnosed with syphilis between 2007 and 2016 were reviewed. A standardized form was used to collect epidemiological, obstetric data and outcomes of congenital infection. The present research has been authorized by the Ethics Committee of the institution. Results: There were 268 women diagnosed with syphilis, with an average age of 23.6 years old. The majority of the patients were from Uberaba. Inadequate prenatal care was observed in 37.9% of the pregnant women. Only 34.2% of the patients completed the treatment according to the guidelines issued by the Ministry of Health of Brazil, and 19.8% of the partners of the patients underwent adequate syphilis treatment; 37 (13.8%) couples (patients and partners) underwent correct treatment. Regarding the obstetric outcomes, 4 (1.5%) patients had a miscarriage and 8 (3.4%) had fetal losses (from the fetal loss group, 7 had no adequate treatment); 61 (25.9%) patients had premature births - this prematurity has been significantly correlated to inadequate or incomplete treatment in 49 (27.9%) patients, compared with 12 (13.0%) patients with premature births and adequate treatment (p = 0.006). The average live newborn weight was 2,840 g; 25.3% had a birth weight < 2,500 g; 74.2% had congenital syphilis, a data with heavy correlation to inadequate or incomplete prenatal care, prematurity, and low birth weight. Conclusion: Public awareness policies on adequate prenatal care, intensification of serological screening, and early treatment of syphilis are needed, considering the rise of cases diagnosed during gestation and its potentially preventable deleterious consequences related to congenital transmission.

Resumo Objetivo: O presente estudo avaliou dados epidemiológicos e obstétricos de gestantes com sífilis no Hospital de Clínicas da Universidade Federal do Triângulo Mineiro (UFTM), objetivando o conhecimento desta infecção no ciclo gravídico e a transmissão vertical para futuras ações em saúde pública. Métodos: Foram revisados registros de gestantes admitidas no Departamento de Ginecologia e Obstetrícia do Hospital de Clínicas da UFTM, diagnosticadas com sífilis entre 2007 e 2016. Para a coleta de dados, utilizou-se um formulário padronizado enfocando aspectos epidemiológicos, obstétricos e infecção congênita. A presente pesquisa foi autorizada pelo Comitê de Ética da instituição. Resultados: Obteve-se 268 gestantes diagnosticadas com sífilis, com idade media de 23,6 anos, sendo a maioria de Uberaba. A assistência pré-natal foi inadequada em 37,9% dos casos. O tratamento para sífilis, de acordo com as diretrizes do Ministério da Saúde do Brasil, foi realizado por 34,2% das gestantes e por 19,8% dos parceiros. Quanto aos desfechos obstétricos, observou-se que 4 (1,5%) pacientes evoluíram com abortamento e 8 (3,4%) com óbito fetal, das quais 7 não realizaram tratamento. Observou-se parto prematuro em 61 (25,9%) gestantes, e a prematuridade foi significativamente associada ao tratamento ausente/incompleto, com 49 (27,9%) casos, comparada a 12 (13,0%) casos nos quais o tratamento foi adequado (p = 0,006). Quanto aos recém-nascidos, o peso médio foi de 2.840 g, e 25,3% apresentaram peso < 2.500 g. Diagnosticou-se infecção congênita em 74,2%, dos casos, associada significativamente ao pré-natal inadequado, ao tratamento ausente/ incompleto, à prematuridade e ao baixo peso ao nascer. Conclusão: Políticas públicas de conscientização sobre pré-natal adequado, intensificação de rastreamento sorológico e tratamento precoce da sífilis são necessárias, haja vista a ascensão dos casos diagnosticados na gestação e suas consequências deletérias potencialmente evitáveis relacionadas à transmissão congênita.

Citomegalovirus y gestación: Reporte de un caso en gestación gemelar / Cytomegalovirus infection in pregnancy: Case report in twin pregnancy

Cytomegalovirus (CMV) is the leading cause of congenital infection in developed countries, affecting 0.3 to 0.6% of all live births in Europe. Primary CMV infection occurs in 1 to 4% of seronegative women during pregnancy and may be transmitted to the fetus in 40% of cases. Up to 10% of intrauterine CMV infections result in symptomatic congenital disease at birth. Half of these children and 13% of those born with asymptomatic infection will develop long-term sequelae, especially neurosensory hearing loss and mental retardation. Accurate diagnosis of primary maternal and fetal infection is now possible using the avidity index of anti-CMV IgG and virological testing to detect the virus in amniotic fluid. The gold standard for diagnosis of congenital CMV infection is the detection of the virus in urine within the first 2 weeks of life by rapid cell culture techniques (shell vial) or nucleic acid amplification of viral DNA (PCR). Currently, only educational and hygienic measures may prevent infection during pregnancy, until a CMV vaccine becomes available. Results of controlled clinical trials on antiviral drugs and immunoglobulins against CMV in infected pregnant women are expected.

El citomegalovirus (CMV) es la causa más frecuente de infección congénita en los países desarrollados y aparece entre 0,3 y 0,6% de los recién nacidos en Europa. La primoinfección durante el embarazo ocurre en 1 a 4% de las gestantes seronegativas. En este caso, el 40% de los fetos se infecta y 10% presenta síntomas al nacimiento. La mitad de estos niños y 13% de los que nacen asintomáticos desarrollan secuelas permanentes, especialmente hipoacusia neurosensorial y retraso mental. En la actualidad, la determinación de la avidez de los anticuerpos IgG maternos y la detección del virus en líquido amniótico por reacción en cadena de la polimerasa (PCR) permiten el diagnóstico de la primoinfección en la embarazada y el diagnóstico de la infección en el feto. El diagnóstico de la infección congénita en el recién nacido debe realizarse mediante el cultivo del virus en shell vial o mediante la identificación del genoma viral por PCR en una muestra de orina recogida en las 2 primeras semanas de vida. A día de hoy, solo disponemos de medidas higiénico-sanitarias para la prevención de la infección durante la gestación, a la espera de resultados en el desarrollo de una nueva vacuna contra el CMV y de estudios multicéntricos controlados que avalen el uso o no de antivirales e inmunoglobulinas en gestantes infectadas por CMV.

Epidemiological profile of 39 cases of microcephaly caused by congenital infections diagnosed in the state of Rio Grande do Sul between 2015-2017

Introduction: Microcephaly is a clinical finding that can arise from congenital anomalies or emerge after childbirth. Maternal infections acquired during pregnancy can result in characteristic brain damage in the newborn (NB), which may be visible even in the fetal stage. To describe the epidemiological profile of newborns with reported microcephaly and diagnosed with congenital infections in the state of Rio Grande do Sul between 2015 and 2017. Methods: A cross-sectional study was carried out on data collected from the Public Health Event Registry as well as from medical records. The investigation included serologies for toxoplasmosis and rubella; polymerase chain reaction (PCR) for Zika virus (ZIKV) in the blood and cytomegalovirus in the urine; non-treponemal tests for syphilis; and brain imaging tests. Results: Of the 257 reported cases of microcephaly, 39 were diagnosed with congenital infections. Severe microcephaly was identified in 13 patients (33.3%) and 51.3% of the cases showed alterations in brain imaging tests. In relation to the diagnosis of congenital infections, three patients (7.7%) were diagnosed with ZIKV, nine (23.1%) with cytomegalovirus, nine (23.1%) with toxoplasmosis, and 18 (46.1%) with congenital syphilis. The three cases of ZIKV showed calcification in brain imaging tests, signs of arthrogryposis, excess occipital skin and irritability, characterizing the typical phenotype of ZIKV infection. Conclusions: Most cases of congenital infection had severe neurological lesions, particularly the cases of ZIKV, which can cause neurodevelopmental delays and sequelae in these infants throughout early childhood.

Research progress in laboratory detection of cytomegalovirus and its feasibility analysis for neonatal screening / 临床儿科杂志

Most of the human cytomegalovirus (HCMV) infection has no obvious clinical symptoms, but it can be latent for life and activated under specific conditions. HCMV active infection during pregnancy can lead to abortion, stillbirth, birth-defect and so on, which causes serious economic and social burdens. Both primary and secondary HCMV infection can lead to congenital infection of newborn, but there is still no effective method for the screening of HCMV secondary infection during pregnancy currently. Therefore, a comprehensive congenital HCMV screening for newborns is implemented for early intervention and thus reducing the consequences of congenital HCMV infection. In this paper, the methods of HCMV laboratory detection and its feasibility for neonatal screening are analyzed, in order to provide a basis for the selection of methods in neonatal congenital HCMV screening.

Citomegalovirus y calcificaciones hepáticas en un infante / Cytomegalovirus and hepatic calcifications in a child

Se presenta el caso clínico de un infante de 2 años de edad, cuya progenitora lo llevó a consulta por presentar orinas oscuras y dolor abdominal en algunas ocasiones. Al examen físico se encontró hepatomegalia no dolorosa, que rebasaba en 2 cm el reborde costal derecho. En la ecografía abdominal se observaron múltiples calcificaciones hepáticas y la técnica de reacción en cadena de la polimerasa resultó positiva a citomegalovirus tanto en suero como en sangre. Los resultados de estos exámenes, así como los antecedentes de la madre y el niño permitieron diagnosticar una infección congénita por citomegalovirus. El paciente evolucionó favorablemente y hasta el momento de efectuado este artículo se mantenía asintomático

The case report of a 2 years child whose mother took to the outpatient service due to dark urines and abdominal pain in some occasions is presented. A non painful hepatomegaly was found in the physical examination that surpassed in 2 cm the right costal edge. Multiple hepatic calcifications were observed in the abdominal echography and the polymerase chain reaction technique, either in serum or blood, was positive to cytomegalovirus. The results of these exams, as well as the mother and child history allowed to diagnose a congenital infection due to cytomegalovirus. The patient had a favorable clinical course and he stayed asymptomatic up to the elaboration of this work

Congenital Zika syndrome and neuroimaging findings: what do we know so far? / Síndrome congênita pelo vírus Zika e achados de neuroimagem: o que sabemos até o momento?

Abstract Although infection with the Zika virus was first recognized in 1942, it received little attention until 2007, when a true pandemic spread throughout Africa, Asia, and the Americas. Since then, numerous forms of central nervous system involvement have been described, mainly malformations related to congenital infection. Although the neuroimaging findings in congenital Zika syndrome are not pathognomonic, many are quite suggestive of the diagnosis, and radiologists should be prepared to interpret such findings accordingly. The objective of this article is to review the computed tomography and magnetic resonance imaging findings in congenital Zika syndrome.

Resumo A infecção pelo vírus Zika, apesar de conhecida desde 1942, apresentou destaque somente a partir de 2007, quando uma verdadeira pandemia se espalhou pela África, Ásia e Américas. Durante este período, numerosas formas de acometimento do sistema nervoso central têm sido descritas, principalmente as malformações relacionadas a infecção congênita. Apesar de os achados de neuroimagem na síndrome congênita pelo vírus Zika não serem patognomônicos, muitos são bastante sugestivos, devendo o radiologista estar preparado para saber interpretar e sugerir o diagnóstico. O objetivo deste artigo é revisar os achados de tomografia computadorizada e ressonância magnética da síndrome congênita pelo vírus Zika.

Síndrome de TORCH: Enfoque racional del diagnóstico y tratamiento pre y post natal: Recomendaciones del Comité Consultivo de Infecciones Neonatales Sociedad Chilena de Infectología, 2016 / TORCH Syndrome: Rational approach of pre and post natal diagnosis.: Recommendations of the Advisory Committee on Neonatal Infections. Sociedad Chilena de Infectología, 2016

Existen numerosas infecciones bacterianas, virales y parasitarias que pueden transmitirse desde la madre al feto o recién nacido (RN) y que significan un riesgo para él. El acrónimo TORCH se utiliza en forma universal para caracterizar a aquel feto o RN que presenta un cuadro clínico compatible con una infección congénita y que permite un enfrentamiento racional, tanto diagnóstico como terapéutico. El concepto tradicional de realizar un "test de TORCH" sin consideraciones específicas a cada paciente, hoy en día se considera no adecuado y ha sido reemplazado por exámenes específicos para patógenos específicos bajo circunstancias bien definidas. El presente documento revisa las características generales, epidemiológicas, patogénicas, diagnósticas y terapéuticas de los patógenos más frecuentemente involucrados en el estudio de pacientes con sospecha de TORCH.

There is a lot of bacterial, viral or parasite infections who are able to be transmitted vertically from the mother to the fetus or newborn which implicates an enormous risk for it. The TORCH acronym is used universally to refer to a fetus or newborn which presents clinical features compatible with a vertically acquired infection and allows a rational diagnostic and therapeutic approach. The traditional "TORCH test" is nowadays considered not appropriate and it has been replaced for specific test for specific pathogens under well defined circumstances. The present document reviews the general characteristics, epidemiology, pathogenesis, diagnostic and therapeutic options for the most frequently involved pathogens in the fetus or newborn with TORCH suspicion.

The burden of congenital rubella syndrome in the Philippines: results from a retrospective assessment

Introduction: In line with the regional aim of eliminating rubella and congenital rubella syndrome (CRS), phased introduction of rubella-containing vaccines (RCV) in the Philippines’ routine immunization programme began in 2010. We estimated the burden of CRS in the country before widespread nationwide programmatic RCV use. Methods: We performed a retrospective chart review in four tertiary hospitals. Children born between 1 January 2009 and 31 December 2014 and identified as possible CRS cases based on the presence of one or more potential manifestations of CRS documented in hospital or clinic charts were reviewed. Cases that met the clinical case definition of CRS were classified as either confirmed (with laboratory confirmation) or probable (without laboratory confirmation). Cases that did not fulfil the criteria for either confirmed or probable CRS were excluded from the analysis. Results: We identified 18 confirmed and 201 probable cases in this review. Depending on the hospital, the estimated incidence of CRS ranged from 30 to 233 cases per 100 000 live births. The estimated national burden of CRS was 20 to 31 cases per 100 000 annually. Discussion: This is the first attempt to assess the national CRS burden using in-country hospital data in the Philippines. Prospective surveillance for CRS and further strengthening of the ongoing measles-rubella surveillance are necessary to establish accurate estimates of the burden of CRS and the impact of programmatic RCV use in the future.

Meningococcal disease outbreak related to the World Scout Jamboree in Japan, 2015

Problem: Six invasive meningococcal disease cases occurred among Scottish and Swedish nationals associated with the World Scout Jamboree (WSJ), an international mass gathering, held in Japan. The index case developed symptoms while returning home. The strains from all six cases were identical and seldom seen in Japan. Context: Over 33 000 participants from 155 countries attended WSJ. At the Jamboree site, participants of the North of Scotland’s and Sweden’s units camped within the same subcamp and kept the same schedule of events. No information was available about the Swedish and Scottish cases’ close personal contact history. Action: Health Protection Scotland investigated Scottish cases, conducted active case finding, provided chemoprophylaxis, vaccinated close contacts and advised Scottish WSJ participants and contacts to seek medical care if they developed symptoms. The Public Health Agency of Sweden recommended chemoprophylaxis to all participants in Sweden. In Japan, the Ministry of Health, Labour and Welfare (MHLW) requested the Scout Association of Japan advise all participants to seek medical attention if they developed symptoms. MHLW shared information about the event with local authorities, medical associations, and the Ministry of Education, Culture, Sports, Science and Technology. Outcome: No additional case related to WSJ has been reported. This outbreak highlighted the risk for international spread of invasive meningococcal disease at international mass gatherings. Discussion: Assessing risk, educating participants, enhancing surveillance and sharing timely information among related countries are significant for prevention and response against invasive meningococcal disease outbreaks at mass gatherings.

Zika virus congenital syndrome: experimental models and clinical aspects

Abstract Viral infections have long been the cause of severe diseases to humans, increasing morbidity and mortality rates worldwide, either in rich or poor countries. Yellow fever virus, H1N1 virus, HIV, dengue virus, hepatitis B and C are well known threats to human health, being responsible for many million deaths annually, associated to a huge economic and social cost. In this context, a recently introduced flavivirus in South America, called Zika virus (ZIKV), led the WHO to declare in February 1st 2016 a warning on Public Health Emergency of International Concern (PHEIC). ZIKV is an arbovirus of the Flaviviridae family firstly isolated from sentinels Rhesus sp. monkeys at the Ziika forest in Uganda, Africa, in 1947. Lately, the virus has well adapted to the worldwide spread Aedes aegypti mosquito, the vector for DENV, CHIKV, YFV and many others. At first, it was not considered a threat to human health, but everything changed when a skyrocketing number of babies born with microcephaly and adults with Guillain-Barré syndrome were reported, mainly in northeastern Brazil. It is now well established that the virus is responsible for the so called congenital Zika syndrome (CZS), whose most dramatic features are microcephaly, arthrogryposis and ocular damage. Thus, in this review, we provide a brief discussion of these main clinical aspects of the CZS, correlating them with the experimental animal models described so far.