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ABSTRACT Objective: To verify the use and identify advantages of molecular methods for congenital infections diagnosis in cerebrospinal fluid of neonates. Data source: The review was registered in the International Prospective Register of Systematic Reviews (PROSPERO), under CRD42021274210. The literature search was performed in databases: PubMed, Virtual Health Library/ Latin American and Caribbean Center on Health Sciences Information (VHL/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, and EBSCOhost. The search was carried out from August to October 2021 and updated in December 2022, respecting the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The selection sequence was: 1) Duplicate title removal; 2) Examination of titles and abstracts; 3) Full-text retrieval of potentially relevant reports; and 4) Evaluation of the full text according to eligibility criteria by two independent authors. Inclusion criteria considered randomized and non-randomized control trials, longitudinal, cross-sectional, and peer-reviewed studies in humans, published in English, Spanish, Italian, and Portuguese, with newborns up to 28 days old who had congenital neuroinfections by toxoplasmosis, rubella, cytomegalovirus, herpes simplex (TORCH), and others such as Treponema pallidum, Zika, parvovirus B-19, varicella zoster, Epstein-Barr, and SARS-CoV2, diagnosed by polymerase chain reaction (PCR). Two evaluators extracted the following information: author, year of publication, nationality, subjects, study type, methods, results, and conclusion. Data synthesis: The most studied pathogen was herpes simplex. Several articles reported only nonspecific initial symptoms, motivating the collection of cerebrospinal fluid and performing PCR for etiological investigation. Conclusions: Molecular methods are effective to detect pathogen genomes in cerebrospinal fluid, which can impact clinical evolution and neurological prognosis.

RESUMO Objetivo: Verificar a utilização e identificar as vantagens dos métodos moleculares para diagnóstico de infecções congênitas no líquido cefalorraquidiano de neonatos. Fontes de dados: A revisão foi registrada na base PROSPERO (International Prospective Register of Systematic Reviews) sob CRD42021274210. A busca bibliográfica foi realizada nas bases de dados PubMed, Biblioteca Virtual em Saúde/ Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde (BVS/BIREME), Scopus, Web of Science, Excerpta Medica database (EMBASE), Cochrane, ProQuest, e EBSCOhost. A busca foi feita no período de agosto a outubro de 2021 e atualizada em dezembro de 2022, respeitando as orientações do Preferred Reporting Items for Systematic Reviews e Meta-Analyises (PRISMA). A sequência da seleção dos estudos foi: 1) Remoção de duplicatas; 2) Exame de títulos e resumos; 3) Recuperação dos textos completos potencialmente relevantes; e 4) Avaliação do texto completo conforme critérios de elegibilidade por dois autores independentes. O critério de inclusão considerou ensaios clínicos randomizados e não randomizados, estudos longitudinais, transversais, revisados por pares, estudos em humanos, publicados em inglês, espanhol, italiano e português, com recém-nascidos de até 28 dias que sofreram neuroinfecções congênitas pelos agentes toxoplasmose, rubéola, citomegalovírus, herpes simples (TORCH), e outros como Treponema pallidum, Zika, parvovírus B-19, varicela zoster, Epstein-Barr, e SARS-CoV-2, diagnosticadas por reação em cadeia de polimerase (PCR). Dois avaliadores extraíram as seguintes informações: autor, ano de publicação, nacionalidade, sujeitos, tipo de estudo, métodos, resultados e conclusão. Síntese dos dados: O patógeno mais estudado foi Herpes Simples. Muitos artigos relataram somente sintomas iniciais inespecíficos, motivando a coleta de líquido cefalorraquidiano e realização da PCR para investigação etiológica. Conclusões: Os métodos moleculares são eficazes para detectar o genoma do patógeno no líquido cefalorraquidiano, o que pode impactar na evolução clínica e no prognóstico neurológico.

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BACKGROUND: The WHO presented the initiative: "Global elimination of congenital syphilis (CS): rationale and strategies for action". It establishes that CS is a preventable disease that can be eliminated. OBJECTIVE: To estimate the proportion of missed opportunities for prevention (MOP) of (CS). MATERIAL AND METHODS: Cross-sectional study. We studied women with children with confirmed diagnosis of CS (NOM-039-SSA2-2002) in the Mexican Social Security Institute in Jalisco from 01/01/2016 to 08/01/2022. The clinical records of the mother, the newborn and the epidemiological study (ES) were reviewed. Each case was classified into one of the MOP categories. RESULTS: 52 cases were reported: 46.2 % (n = 24) were ruled out, 34.6 % (n = 18) confirmed, 15.4 % (n = 8) unknown and 3.8 % (n = 2) probable cases. The HIV test was performed in 61.1 % (n = 11) and syphilis in 72.2 % (n = 13) of the mothers. The MOP in 27.8 % (n = 5) was inadequate treatment or omission of maternal treatment despite a timely diagnosis of syphilis. Treatment was inadequate in 63.6 % (n = 7) of the women who received it. CONCLUSION: The classification of MOP identifies gaps in CS prevention and can guide stakeholders, policy makers and public health prevention programs to reduce the incidence of CS.

ANTECEDENTES: La Organización Mundial de la Salud estableció que la sífilis congénita es una enfermedad prevenible que puede eliminarse. OBJETIVO: Estimar la proporción de oportunidades perdidas en la prevención (OPP) de la sífilis congénita. MATERIAL Y MÉTODOS: Estudio transversal descriptivo. Se eligieron mujeres en cuyos hijos recién nacidos se identificó sífilis congénita entre 2016 y 2022. Se revisaron los expedientes clínicos de la madre, el recién nacido y el estudio epidemiológico. Cada caso se clasificó en una de las categorías de las OPP. RESULTADOS: Se notificaron 52 casos: 46.2 % (n = 24) fue descartado, 34.6 % (n = 18) confirmado, 15.4 % (n = 8) desconocido y 3.8 % (n = 2) probable. Las pruebas para identificar infección por VIH y sífilis se realizaron en 61.1 % (n = 11) y 72.2 % de las madres (n = 13). La OPP en 27.8 % (n = 5) consistió en el tratamiento inadecuado u omisión de tratamiento materno a pesar de diagnóstico oportuno de la sífilis. De quienes recibieron tratamiento, en 63.6 % fue inadecuado (n = 7). CONCLUSIÓN: La clasificación de OPP de sífilis congénita permite identificar brechas en la prevención y dirigir intervenciones de salud pública hacia las principales causas para reducir la incidencia.

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Se presenta el caso de un lactante de 2 meses que fue llevado a consulta varias veces por llanto problemático, inicialmente interpretado como de causa gastrointestinal. Dado que el síntoma persistía, se sospechó de una fractura debido a su asociación con la movilización de los miembros y la palpación de una tumoración en la cara anterior de la tibia derecha. Las radiografías mostraron compromiso poliostótico diafisario y lesiones compatibles con compromiso cortical de huesos largos. Se realizó el diagnóstico operativo de síndrome de Caffey-De Toni-Silverman y se inició el tratamiento con antiinflamatorios no esteroideos, lo que resultó en una remisión sintomática. Posteriormente, se confirmó el diagnóstico mediante la identificación de la variante patogénica COL1A1 en estado heterocigota. Se trata de una patología rara de la cual se estima una incidencia de 48/100 000 y hay menos de 150 casos descritos al momento.

Here we describe the case of a 2-month-old infant who consulted several times due to excessive crying, initially interpreted as having a gastrointestinal cause. Since the symptom persisted, a fracture was suspected due to its association with mobilization of the limbs and palpation of a mass on the anterior aspect of the right tibia. X-rays showed diaphyseal polyostotic involvement and lesions compatible with cortical involvement of long bones. Caffey-De Toni-Silverman syndrome was diagnosed and treatment with nonsteroidal anti-inflammatory drugs was initiated, resulting in symptom remission. Subsequently, the diagnosis was confirmed by the identification of the pathogenic heterozygous variant COL1A1. This is a rare condition with an estimated incidence of 48/100 000 individuals, and less than 150 cases have been described to date.

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INTRODUCTION: Congenital diaphragmatic hernia (CDH) remains a therapeutic challenge. The surgical classification recommended by the Congenital Diaphragmatic Hernia study group (CDHSG), based on the size of the defect, is used for staging in reference centres. Larger defects are associated with poorer outcomes. Our aim was to describe and compare the morbidity at hospital discharge of newborns who underwent surgical correction of CDH at the Juan P. Garrahan, according to the surgical staging of the defect proposed by the CDHSG. MATERIAL AND METHODS: The study included patients with CDH admitted to the Juan P. Garrahan Hospital between 2012 and 2020, and we analysed the distribution, morbidity and mortality associated with the size of the defect. We carried out a descriptive analysis, calculating measures of central tendency and dispersion, and bivariate and multivariate analyses. RESULTS: A total of 230 patients with CDH were admitted and 158 underwent surgery. We found that defect sizes C and D sizes were associated with an increased risk of chronic pulmonary disease (CPD) (OR, 5.3; 95% CI, 2.2-13.4; P<.0000), need of extracorporeal membrane oxygenation (OR 3.9; 95% CI, 1.3-12.8; P<.005) and chylothorax (OR, 2.1; 95% CI, 0.8-6.4; P<.10]. The multivariate analysis revealed that a large defect size (C-D) was independently and significantly associated with CPD (OR 4.19; 95% CI, 1.76-9.95). CONCLUSION: Staging the defect according to de CDHSG classification during surgery allows the application of uniform management criteria and the prediction of patient outcomes and complications during the hospital stay.

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La hernia diafragmática congénita es una discontinuidad del diafragma con herniación de los órganos abdominales a la cavidad torácica, actualmente se postula una hipótesis dual para su origen. Su fisiopatología está determinada por la hipoplasia pulmonar, la hipertensión pulmonar y la disfunción ventricular, entender estos elementos es necesario para un adecuado manejo y la mejoría del pronóstico.

Congenital diaphragmatic hernia is a discontinuity of the diaphragm with herniation of the abdominal organs into the thoracic cavity, currently a dual hypothesis for its origin is postulated. Its pathophysiology is determined by pulmonary hypoplasia, pulmonary hypertension and ventricular dysfunction, understanding these elements is necessary for adequate management and improve prognosis.

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Introducción : Se promueven iniciativas para mejorar la salud de las mujeres y niños siendo el denominador común disponer de un sistema de información con repercusión en la salud de esta población. En Paraguay el SIP PLUS es utilizado con diferente grado de cobertura en los servicios maternoinfantiles. Objetivo: analizar la calidad de los datos generados para la construcción de los indicadores de Eliminación de la Sífilis Congénita (SC). Metodología: Estudio nacionalmente representativo utilizando datos generados por el SIP PLUS. Resultados: 32.479 historias perinatales cargadas desde el 2018 a julio del 2021. La representación de la muestra 1,5% en 2018 al 23% en 2021. Mayores pérdidas de información en el 2020. Para las variables de contexto con menos pérdidas de información en comparación a las de prevención primaria, secundaria y salud reproductiva. La pérdida de datos para: porcentaje de mujeres embarazadas con cuidado prenatal (4 o más) en un promedio de 64,4%; porcentaje de mujeres embarazadas tamizadas 43,1 % en el 2020 y 33,4% en 2019; positividad de la prueba de sífilis 49% en el 2020. Lo que también se observa en el indicador de tratamiento. Se registraron 506 casos de SC. Tasa de SCx1000 nacidos vivos ( 10 x1000 nacidos vivos en los 4 años analizados. Edad adolescente (p: 0,040) como factor de riesgo para SC. Conclusiones: Pérdida de registros en lo referente a ETMI, por falta de carga de datos. Alta incidencia de SC en los años analizados. Adolescentes como factor de riesgo para SC.

Introduction: Initiatives are promoted to improve the health of women and children, the common denominator being having an information system with an impact on the health of this population. In Paraguay, the SIP PLUS is used with different degrees of coverage in maternal and child services. Objective: analyze the quality of the data generated for the construction of the indicators for the Elimination of Congenital Syphilis (CS). Methodology: Nationally representative study using data generated by the SIP PLUS. Results: 32,479 perinatal histories uploaded from 2018 to July 2021. The representation of the sample went from 1.5% in 2018 to 23% in 2021. Greater information losses in 2020. For the context variables with fewer information losses in comparison to those of primary, secondary prevention and reproductive health. Loss of data for: percentage of pregnant women with prenatal care (4 or more) averaged 64.4%; percentage of pregnant women screened 43.1% in 2020 and 33.4% in 2019; syphilis test positivity 49% in 2020. This is also observed in the treatment indicator. 506 cases of CS were recorded. Rate of SCx1000 live births  10 x1000 live births in the 4 years analyzed. Adolescent age (p: 0.040) as a risk factor for CS. Conclusions: Loss of records regarding ETMI, due to lack of data loading. High incidence of CS in the years analyzed. Adolescents as a risk factor for CS.

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Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle dermatological signs enable early detection, altering patient prognosis. A specific DC genetic sequencing was performed according to the clinical criteria of our patient in study. Subsequently, cross-checked information in the main genetic databases was carried out. Additionally, an extensive review of the literature was made to organize the main dermatological aspects in DC. We report a novel variant of DC. Additionally, we share 10 useful and practical messages for dermatologists and any specialist caring for this group of patients.

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Ventricular septal defect (VSD) is one of the most common congenital defects. It has a wide variety of clinical spectrum of presentation depending on the location and size of the defect. Generally, small restrictive VSDs present spontaneous closure during follow-up. A clinical case is presented with suspected persistent perimembranous VSD, with described intraoperative anatomical findings of aneurysmal cribriform membrane, ruling out VSD.

La comunicación interventricular (CIV) es uno de los defectos congénitos más comunes. Tiene una amplia variedad de espectro clínico de presentación dependiendo de la localización y tamaño del defecto. Por lo general, en los CIV restrictivos pequeños presentan un cierre espontáneo durante el seguimiento. Se presenta un caso clínico con sospecha de CIV perimembranosa persistente, con hallazgos anatómicos intraoperatorios descritos de membrana cribiforme aneurismática descartandose CIV.

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Objetivo: Analisar a incidência de sífilis congênita e descrever o perfil epidemiológico das mães e recém-nascidos diagnosticados no município de Sorocaba, SP. Métodos: Estudo descritivo e inferencial, utilizando dados provenientes da notificação compulsória de casos confirmados de sífilis congênita. A coleta dessas informações ocorreu no período de 2018 a 2022, a partir do banco de dados do Centro Municipal de Atenção Especializada. Resultados: Foram notificados 164 casos e a incidência de sífilis congênita foi de 3,66 novos casos. O perfil sociodemográfico das mães, predominantemente jovens, de etnia branca e com escolaridade desconhecida, reflete desafios na identificação e tratamento. A associação significativa entre o esquema de tratamento materno e a escolaridade, especialmente no ensino superior, destaca a importância do acesso à informação na prevenção da transmissão vertical. Apesar da cobertura universal do pré-natal, a presença majoritária de tratamentos inadequados ou não realizados sugere barreiras práticas e socioeconômicas. A significativa proporção de parceiros não tratados ou desconhecidos destaca a necessidade de abordagens abrangentes. Conclusão: Os resultados destacam a importância de estratégias integradas que ultrapassem o âmbito clínico. A implementação de medidas preventivas, educacionais e de apoio socioeconômico é imperativa para avançar em direção à redução efetiva da sífilis congênita em Sorocaba. (AU)

Objective: To analyze the incidence of congenital syphilis and to describe the epidemiological profile of mothers and newborns diagnosed in the city of Sorocaba, Southeastern Brazil. Methods: This was a descriptive and inferential study using data from the compulsory notification of confirmed cases of congenital syphilis. This information was collected from 2018 to 2022, using the database of the Municipal Center for Specialized Care. Results: 164 cases were reported and the incidence of congenital syphilis was 3.66 new cases. The sociodemographic profile of the mothers, who were predominantly young, of white ethnicity and with unknown schooling, reflects challenges in identification and treatment. The significant association between maternal treatment regimen and schooling, especially in higher education, highlights the importance of access to information in the prevention of mother-to-child transmission. Despite universal prenatal coverage, the majority of inadequate or non-performing treatments suggests practical and socioeconomic barriers. The significant proportion of untreated or unknown partners highlights the need for comprehensive approaches. Conclusion: The results highlight the importance of integrated strategies that go beyond the clinical scope. The implementation of preventive, educational and socioeconomic support measures is imperative to move towards the effective reduction of congenital syphilis in Sorocaba. (AU)

Objetivo: Analizar la incidencia de sífilis congénita y describir el perfil epidemiológico de madres y recién nacidos diagnosticados en la ciudad de Sorocaba, Sudeste de Brasil. Métodos: Estudio descriptivo e inferencial con datos de la notificación obligatoria de casos confirmados de sífilis congénita. Esta información se recolectó de 2018 a 2022, utilizando la base de datos del Centro Municipal de Atención Especializada. Resultados: Se notificaron 164 casos y la incidencia de sífilis congénita fue de 3,66 casos nuevos. El perfil sociodemográfico de las madres, predominantemente jóvenes, de etnia blanca y con escolaridad desconocida, refleja dificultades en la identificación y el tratamiento. La asociación significativa entre el régimen de tratamiento materno y la escolaridad, especialmente en la educación superior, pone de relieve la importancia del acceso a la información en la prevención de la transmisión maternoinfantil. A pesar de la cobertura prenatal universal, la mayoría de los tratamientos inadecuados o ineficaces plantean barreras prácticas y socioeconómicas. La importante proporción de parejas no tratadas o desconocidas pone de relieve la necesidad de adoptar enfoques integrales. Conclusión: Los resultados ponen de manifiesto la importancia de las estrategias integradas que van más allá del ámbito clínico. La implementación de medidas de apoyo preventivo, educativo y socioeconómico es imprescindible para avanzar hacia la reducción efectiva de la sífilis congénita en Sorocaba. (AU)

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Resumen Las anormalidades de la válvula tricúspide tienen una incidencia menor respecto a los defectos del resto de válvulas cardiacas y pueden deberse a causas primarias o secundarias. Recientemente, se ha estudiado su fisiopatología y su importancia en la morbimortalidad por causas cardiacas. En este sentido, la cirugía valvular tricúspide abierta tiene una tasa de morbimortalidad elevada, más aún cuando se trata de una reoperación. Es por esto que estos procedimientos endovasculares transcatéter cobran relevancia y recientemente se han publicado a lo largo del mundo algunos casos de intervenciones por este método, por medio de implante valvular percutáneo valve-in-valve en posición tricúspide. Se presenta el primer caso reportado de este procedimiento en Colombia en una paciente pediátrica, el cual transcurrió sin complicaciones y con el que se logró una mejoría significativa en la función valvular como paso inicial para continuar desarrollando la técnica y realizando este procedimiento en el país.

Abstract Abnormalities in the tricuspid valve have a lower incidence than defects in the rest of the heart valves and may be due to primary or secondary causes. Recently, its pathophysiology and importance in morbidity and mortality due to cardiac causes have been widely studied. Open tricuspid valve surgery has a high rate of morbidity and mortality, and even more so when it comes to reoperation. For this reason, it is important to carry out these procedures endovascularly via a transcatheter catheter and some cases of exacerbations by this method have recently been published throughout the world, by means of percutaneous valve-in-valve implantation in the tricuspid position. We present the first reported case of this procedure in Colombia in a pediatric patient, whose procedure was uneventful and a significant improvement in valve function was impaired, as an initial step to continue developing the technique and performing the procedure in this country.

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La Aracnodactilia Contractural Congénita  (ACC) es una enfermedad del tejido conectivo de herencia autosómica dominante, causada por variantes en el gen FBN2 que codifica la fibrilina-2. Tiene características específicas como contracturas congénitas, oreja con hélice superior arrugada, camptodactilia, pectus carinatum y complicaciones como escoliosis y la cifoescoliosis. Publicamos el caso de una paciente femenina de 19 años con historia de delgadez, velocidad de crecimiento acelerada, talla alta, pérdida de peso, contracturas articulares, hipotonía congénita, pubertad precoz, hábito marfanoide, pectus carinatum y leve aracnodactilia. Se sospecha de enfermedad del colágeno y se solicita secuenciación del exoma completo mediante NGS  (del inglés Next Generation Sequencing) + CNVs  (del inglés Copy Number Variations) genes relacionados con colagenopatías; se identificó una variante en el gen FBN2  (NM_001999.4): c.4394G>A; p.Cys1465Tyr; estado heterocigoto de significancia clínica probablemente patogénica. La ACC es fenotípicamente similar al síndrome de Marfán y se caracteriza por aracnodactilia, dolicostenomelia, escoliosis, contracturas congénitas múltiples y anomalías de los oídos externos. A diferencia del síndrome de Marfán; no tiene compromiso ocular ni afecta la raíz aórtica. Cuenta con variabilidad fenotípica que le dan la heterogeneidad que pueden interferir y retrasar el proceso diagnóstico y terapéutico específico al solaparse con otras condiciones médicas. Los avances en la medicina y la genómica con la utilización de nuevos métodos diagnósticos han permitido que cada día nos acerquemos más a la medicina 6P  (precisión, predicción, prevención, personalizada, participativa con enfoque poblacional) que impacta en el diagnóstico, tratamiento específico, seguimiento, pronóstico y adecuado asesoramiento genético de las enfermedades. (provisto por Infomedic International)

Contractural arachnodactyly congenita  (CCA) is an autosomal dominantly inherited connective tissue disease caused by variants in the FBN2 gene encoding fibrillin-2. It has specific features such as congenital contractures, wrinkled upper helix ear, camptodactyly, pectus carinatum and complications such as scoliosis and kyphoscoliosis. We publish the case of a 19-year-old female patient with a history of thinness, accelerated growth velocity, tall stature, weight loss, joint contractures, congenital hypotonia, precocious puberty, marfanoid habitus, pectus carinatum and mild arachnodactyly. Collagen disease was suspected and whole exome sequencing by NGS  (Next Generation Sequencing) + CNVs  (Copy Number Variations) genes related to collagenopathies was requested; a variant was identified in the FBN2 gene  (NM_001999.4): c.4394G>A; p.Cys1465Tyr; heterozygous state of probably pathogenic clinical significance. CCA is phenotypically similar to Marfan syndrome and is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures, and external ear anomalies. Unlike Marfan syndrome, it has no ocular involvement and does not affect the aortic root. It has phenotypic variability that gives it heterogeneity that can interfere and delay the specific diagnostic and therapeutic process by overlapping with other medical conditions. Advances in medicine and genomics with the use of new diagnostic methods have allowed us to get closer to 6P medicine  (precision, prediction, prevention, personalized, participatory with a population approach) that impacts on the diagnosis, specific treatment, follow-up, prognosis and adequate genetic counseling of diseases. (provided by Infomedic International)

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Durante décadas el estudio de las enfermedades cardiacas ha sido una de las principales preocupaciones de los profesionales del área de la salud, más aún aquellos casos donde la patología es de tipo congénita, debido a las múltiples complicaciones que se pueden generar en la calidad de vida de los pacientes diagnosticados, por falta de un manejo adecuado. Tal es el caso de la fistula coronaria, que es una anomalía de este tipo de arterias, los síntomas más frecuentes son la dificultad respiratoria, ángor, taponamiento cardiaco y muerte súbita, por ello, entre más precoz sea el diagnostico existirán mayores posibilidades de la reducción de los riesgos agravados de la enfermedad. Se presenta el caso de un paciente pediátrico cuyos estudios demostraron la presencia de una fistula coronaria proveniente de la arteria coronaria izquierda hacia la aurícula derecha, cuya frecuencia no es muy alta y por lo cual puede ser considerada como una enfermedad rara, así que también se describe el tratamiento recibido para dicha malformación congénita y los resultados obtenidos luego del manejo dado. Objetivo: Describir el caso de un paciente pediátrico con falla cardiaca secundario a una fistula coronaria. Conclusiones: La fistula coronaria es una cardiopatía congénita poco frecuente, sin embargo, la presencia de esta anomalía pone en riesgo la vida de los pacientes que tienen esta afectación en cuanto al funcionamiento o estructura de su corazón, la descripción de este caso clínico aporta información relevante para el conocimiento científico del área de la salud, en lo que respecta al diagnóstico y manejo temprano de esta afectación en la función cardiaca de los pacientes pediátricos, ya que, se logró tener un estatus exitoso post cierre endovascular de la fistula coronaria identificada, que favorecerá al comportamiento normal de las funciones del corazón y por consiguiente la calidad y el pronóstico de vida del paciente tratado. (provisto por Infomedic International)

For decades, the study of heart disease has been one of the main concerns of health professionals, especially in cases where the pathology is congenital, due to the multiple complications that can be generated in the quality of life of diagnosed patients, for lack of proper management. Such is the case of coronary fistula, which is an anomaly of this type of arteries, the most frequent symptoms are respiratory distress, angina, cardiac tamponade and sudden death, therefore, the earlier the diagnosis, the greater the possibilities of reducing the aggravated risks of the disease. We present the case of a pediatric patient whose studies showed the presence of a coronary fistula from the left coronary artery to the right atrium, whose frequency is not very high and therefore can be considered a rare disease, and we also describe the treatment received for this congenital malformation and the results obtained after the management given. Objective: To describe the case of a pediatric patient with heart failure secondary to a coronary fistula. Conclusions: Coronary fistula is a rare congenital heart disease, however, the presence of this anomaly puts at risk the life of patients who have this affectation in terms of the function or structure of their heart, the description of this clinical case provides relevant information for the scientific knowledge of the health area, regarding the diagnosis and early management of this affectation in the cardiac function of pediatric patients, since a successful status was achieved after endovascular closure of the identified coronary fistula, which will favor the normal behavior of the heart functions and consequently the quality and prognosis of life of the treated patient. (provided by Infomedic International)

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Introducción. Las cardiopatías congénitas (CC) en Chile corresponden a la segunda causa de muerte en menores de 1 año, requiriendo cirugías paliativas y/o correctivas el 65% de estas. En el post operatorio frecuentemente se utiliza ventilación mecánica invasiva (VM) y succión endotraqueal (SET) para remover secreciones. Sin embargo, la kinesiología respiratoria (KTR) ha mostrado mejoras significativas en la distensibilidad toracopulmonar (Cest) y resistencia de vía aérea (Rva) en otros grupos de usuarios pediátricos y adultos en VM. Objetivo. Comparar los cambios en la Cest y Rva en usuarios pediátricos en VM post cirugía de cardiopatía congénita (CCC) sometidos a KTR versus SET exclusiva. Métodos. Revisión sistemática de estudios publicados en bases de datos PUBMED, PeDro, Scielo y Google Scholar que comparan el uso de KTR ó SET sobre los cambios en mecánica ventilatoria en usuarios pediátricos en VM post cirugía de cardiopatía congénita, limitados a inglés, español y portugués, excluyendo a sujetos con traqueostomía o con oxigenación por membrana extracorpórea. Se utilizó guía PRISMA para la selección de artículos. Se revisaron 397 artículos y se seleccionó 1 artículo extra de los artículos sugeridos. Se eliminó 1 artículo por duplicidad. Por títulos y resúmenes se seleccionaron 2 artículos, los cuales al leer el texto completo fueron retirados debido a que la población no correspondía a cardiópatas. Resultados. El final de artículos seleccionados fue de 0 artículos, debido a lo cual se removió el operador Booleano "NOT", y se removió la población de cardiopatías. De este modo quedaron 2 artículos seleccionados para la revisión cualitativa final donde se compara KTR versus SET, y KTR en kinesiólogos especialistas y no especialistas, mostrando ambos aumento en la Cest y disminución de la Rva a favor de la KTR, hasta los 30 minutos post intervención. Conclusiones. No se encontraron artículos que demuestren cambios en Cest y Rva con el uso de KTR + SET versus SET exclusiva, en usuarios pediátricos ventilados posterior a CCC. Con la remoción de filtros seleccionamos 2 artículos que demuestran aumento de Cest y disminución de Rva en sujetos pediátricos en VM, uno comparando con SET, y por grupos de especialistas y no especialistas en respiratorio. Se sugieren estudios primarios para evaluar los efectos de esta intervención en esta población.

Introduction. Congenital heart diseases (CHD) are the second general cause for children death under 1 year. In Chile, approximately 65% CHD need surgery, could was palliative or corrective. In the postoperative period, invasive mechanical ventilation (MV) is frequently used as a life support method, but it is associated with complications. Tracheal suction (SET) is regularly used to remove secretions; however, respiratory chest physiotherapy (KTR) has shown significant improvements in thoraco-pulmonary compliance and airway resistance in other groups of pediatrics and adult's users in MV. Objetive. to compare changes in thoraco-pulmonary compliance and airway resistance in pediatric subjects under mechanical ventilation after congenital heart disease surgery comparing chest physiotherapy and exclusive tracheal suction. Methods. systematic review of studies published in PUBMED, PeDro, Scielo and Google Scholar databases who compares KTR or SET use on changes in ventilatory mechanics in pediatric users under MV after congenital heart disease surgery, limited to English, Spanish and Portuguese languages, excluding user with tracheostomy or extracorporeal membrane of oxygenation. It was use the PRISMA guide to articles selection. A search was carried out, with a total of 397 articles reviewed (English: PubMed = 3, PeDro = 8, Scholar = 383; Spanish: Scholar = 3, Scielo = 0; and Portuguese: Scielo = 0). One extra article was selected from the suggested articles, and 1 article was eliminated due to duplication. By titles and abstracts, 2 articles were selected, but the population did not correspond to heart disease. Results. the final selected articles were 0 articles. By this reason, it were removed: Boolean operator "NOT", and congenital heart disease population. Thus, 2 articles were selected for the final qualitative review where it was compares KTR versus SET, and KTR by specialist and non-specialist. Both articles shown improvement in compliance and resistance until 30 minutes post intervention. The CC population was in a 40 to 60% range in both studies. Conclusions. it was no found articles that demonstrate changes in compliance and resistance in the airway with the use of KTR + SET versus exclusive SET in pediatric users after CCC connected to MV. After filter remotion, we found 2 studies shown improves in increase compliance and reduce resistance in pediatric user in MV, ones comparing with SET, and the other one comparing between specialists in respiratory pediatric physiotherapy and not specialists. It suggests to made primary clinical studies about this intervention in CC population.

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Resumen Realizamos un estudio de casos y controles anidado en una cohorte con el objetivo de estudiar la asociación del consumo de drogas ilícitas y sífilis congénita (SC). Los casos se diagnosticaron mediante pruebas treponémicas y no treponémicas en la madre y el recién nacido (RN). Se realizó un análisis multivariado con regresión logística. Se registraron 6.171 nacimientos con edad gestacional promedio 37,8 semanas y se diagnosticaron 62 eventos de SC (incidencia: 10,5 eventos/1.000 RN). Los factores maternos asociados fueron el uso de drogas ilícitas (OR = 14,08; IC 95% = 1,19-166,6), menos de cinco consultas en el control prenatal (OR = 2,9; IC 95% = 1,12-7,53), más de dos parejas sexuales (OR = 3,76; IC 95% = 1,62-8,71) y estudios universitarios (OR = 0,06; IC 95% = 0,005-0,85). Entre las madres de los casos, la prevalencia del consumo de drogas ilícitas fue de 22,6% y las más frecuentes fueron las metanfetaminas y la marihuana.

Abstract We conducted a nested case-control study within a cohort with the aim of studying the association between illicit drug use and congenital syphilis (CS). Cases were diagnosed based on treponemal and non-treponemal tests conducted both in the mother and the newborn (NB). Multivariate analysis with logistic regression was performed. A total of 6171 births with a mean gestational age of 37.8 weeks were recorded and 62 CS events were diagnosed (incidence 10.5 events/1000 NB). Associated maternal factors were illicit drug use (OR 14.08, 95% CI 1.19-166.6), <5 prenatal visits (OR 2.9, 95% CI 1.12-7.53), more than two sexual partners (OR 3.76, 95% CI 1.62-8.71) and professional education level (OR 0.06, 95% CI 0.005-0.85). Among the mothers of the cases presented, the prevalence of illicit drug use was 22.6% and the most frequent drugs were methamphetamines and cannabis.

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Introduction: Sexually transmitted infections frequently affect pregnant women and, consequently, newborns. HIV and syphilis are vertically transmitted to children and co-infection requires special attention due to its clinical implications. Objective: To describe clinical aspects of HIV/syphilis coinfection during pregnancy and the exposure of newborns to infections treated at a pediatric reference hospital in Santa Catarina between 2015 and 2020. Methods: Observational, descriptive study, secondary to a line of research "Epidemiological description of children exposed to HIV" from January 2015 to December 2020 in a tertiary pediatric hospital in Santa Catarina. Results: 678 medical records were analyzed with ICD Z.206 (contact with and exposure to HIV), in which 71 (10.5%) newborns were exposed to HIV and Syphilis co-infection. Of these, 37 (52.1%) were male, 14 (19.7%) confirmed a diagnosis of HIV and 30 (42.2%) of congenital syphilis. Of the co-infected pregnant women, 38 (53.5%) were diagnosed with HIV prior to pregnancy, 53 (74.6%) used ART and 40 (52.1%) used harmful substances. Furthermore, 34 (46.4%) pregnant women had a minimum number of 6 prenatal consultations, 35 (49.3%) had vaginal births and 29 (40.8%) had undetectable HIV RNA quantification at the time of delivery. HIV prophylaxis for newborns occurred in 66 (92.9%) of cases. Conclusion: It is concluded that the studied population was mostly made up of pregnant women who were diagnosed with HIV infection prior to pregnancy. Of these, the majority were using ART, but the minority carried out the minimum number of consultations recommended by the Ministry of Health. Regarding newborns, the majority received HIV prophylaxis. (AU)

Introdução: As infecções sexualmente transmissíveis afetam frequentemente gestantes e, consequentemente, os recém-nascidos (RN). O vírus da imunodeficiência humana (HIV) e a sífilis são transmitidos verticalmente para as crianças e a coinfecção requer atenção especial por suas implicações clínicas. Objetivo: Descrever aspectos clínicos da coinfecção HIV/sífilis na gestação e da exposição de RN às infecções atendidos em um hospital de referência pediátrica em Santa Catarina entre 2015 e 2020. Métodos: Estudo observacional, descritivo, secundário à linha de pesquisa "Descrição epidemiológica de crianças expostas ao HIV" no período de janeiro de 2015 a dezembro de 2020, em um hospital pediátrico terciário de Santa Catarina. Resultados: Foram analisados 678 prontuários com Classificação Internacional de Doenças ­ CID Z.206 (contato com e exposição ao HIV), nos quais 71 (10,5%) RN foram expostos à coinfecção HIV e sífilis. Destes, 37 (52,1%) eram do sexo masculino, 14 (19,7%) confirmaram diagnóstico de HIV e 30 (42,2%) de sífilis congênita. Das gestantes coinfectadas, 38 (53,5%) possuíam diagnóstico do HIV prévio à gestação, 53 (74,6%) usaram terapia antirretroviral (TARV) e 40 (52,1%) utilizaram substâncias nocivas. Ainda, 34 (46,4%) gestantes obtiveram o número mínimo de seis consultas pré-natais, 35 (49,3%) realizaram partos vaginais e 29 (40,8%) possuíam quantificação RNA-HIV não detectável no momento do parto. A profilaxia para o HIV do RN ocorreu em 66 (92,9%) dos casos. Conclusão: Conclui-se que a população estudada foi formada, na sua maioria, por gestantes que receberam o diagnóstico de infecção pelo vírus do HIV prévio à gestação. Destas, a maioria estava em uso de TARV, porém a minoria realizou o número mínimo de consultas preconizadas pelo Ministério da Saúde. Com relação aos RN, a maioria recebeu profilaxia ao HIV. (AU)

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INTRODUCTION: Developmental dysplasia of the hip is the cause of approximately one third of secondary coxarthrosis. Anatomy alterations make it difficult to place a total hip prosthesis in its anatomical position and for it to be stable in the long term; there are several techniques to achieve this goal. In the present work, we used autograft of the femoral head (shelf graft or reinforced roof), to improve the coverage of the acetabular component with favourable results. MATERIALS AND METHODS: Sixteen cases were included in 14 patients with a diagnosis of developmental dysplasia of the hip (13 women and one man), the mean age was 44.3 years (range 35-68 years), with a mean follow-up of 7 years (range 1-15 years). All the cases were evaluated clinically and radiographically, to demonstrate the osseointegration of the graft and the functional results in the medium term. RESULTS: All the acetabular components were placed in anatomical position (Ranawat technique), the mean percentage of host bone coverage was 54.53% (range 43.28-79.05%), obtaining additional coverage with the bone graft of 45.13%. Osseointegration of the graft of 100% at 12 weeks, resorption of the graft from the sixth month, stabilising in the third postoperative year. Only one case of dislocation is reported, no cases of infection, loosening, heterotopic ossification or revision. CONCLUSION: This procedure has shown good functional results in the medium term with 100% osseointegration, despite cases of severe bone resorption of the graft that does not compromise the stability of the prosthesis.

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We conducted a nested case-control study within a cohort with the aim of studying the association between illicit drug use and congenital syphilis (CS). Cases were diagnosed based on treponemal and non-treponemal tests conducted both in the mother and the newborn (NB). Multivariate analysis with logistic regression was performed. A total of 6171 births with a mean gestational age of 37.8 weeks were recorded and 62 CS events were diagnosed (incidence 10.5 events/1000 NB). Associated maternal factors were illicit drug use (OR 14.08, 95% CI 1.19-166.6), <5 prenatal visits (OR 2.9, 95% CI 1.12-7.53), more than two sexual partners (OR 3.76, 95% CI 1.62-8.71) and professional education level (OR 0.06, 95% CI 0.005-0.85). Among the mothers of the cases presented, the prevalence of illicit drug use was 22.6% and the most frequent drugs were methamphetamines and cannabis.

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RESUMO A distiquíase congênita é uma condição rara, de origem controversa, com opções terapêuticas cujos resultados nem sempre são favoráveis. Este é o relato de caso de uma criança do sexo masculino, de 7 anos, portadora de distiquíase congênita afetando as quatro pálpebras, com permanência de alguns folículos pilosos distiquiáticos mesmo tratados cirurgicamente pela técnica da divisão interlamelar, com aplicação seletiva de crioterapia e de eletrólise. O tratamento da distiquíase congênita envolveu a necessidade de associar técnicas, a fim de se obterem resultados mais efetivos.

ABSTRACT Congenital distichiasis is a rare condition, of controversial origin, with therapeutic options not always having favorable results. This is a case report of a seven-year-old male child with congenital distichiasis affecting all eyelids, with the presence of some distichiasis hair follicles despite surgical treatment using the interlamellar division technique, selective application of cryotherapy and electrolysis. The treatment of congenital distichiasis involves the need to combine techniques to achieve more effective results.

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La cardiopatía congénita es la afección cardíaca más frecuente que complica los embarazos en los países desarrollados. A su vez, los cambios en el estilo de vida, la mayor edad materna asociada a factores de riesgo cardiovasculares propios de la edad como hipertensión, diabetes y obesidad hace que aumente también la incidencia de enfermedades cardíacas adquiridas. Los cambios fisiológicos normales del embarazo pueden agravar cardiopatías preexistentes. La morbimortalidad materna relacionada con enfermedades cardiovasculares es significativa, por lo que es fundamental realizar un abordaje multidisciplinario e individualizado de estas pacientes. La estratificación del riesgo es esencial para guiar la gestión clínica. La planificación de la finalización de la gestación debe ser individualizada, considerando el riesgo materno y fetal, se debe realizar en un centro de tercer nivel de atención y preferentemente lo más cercano al término para disminuir la morbimortalidad perinatal. El parto vaginal es la vía de elección; en la mayoría de los casos, es fundamental la monitorización continua materna y fetal durante el trabajo de parto y el parto y la vigilancia estricta materna en el puerperio.

Congenital heart disease is the most common heart condition that complicates pregnancies in developed countries. Additionally, changes in lifestyle and older maternal age, along with age-related cardiovascular risk factors such as hypertension, diabetes, and obesity contribute to an increased incidence of acquired heart diseases. The normal physiological changes of pregnancy can exacerbate pre-existing heart conditions. Maternal morbidity and mortality related to cardiovascular diseases are significant, highlighting the need for a multidisciplinary and individualized approach to these patients. Risk stratification is essential for guiding clinical management. Planning the timing of delivery should be individualized, considering both maternal and fetal risks, ideally in a tertiary care center and preferably close to term to reduce perinatal morbidity and mortality. Vaginal delivery is the preferred mode, in most cases, with continuous monitoring of both maternal and fetal well-being during labor and delivery, and strict maternal surveillance in the postpartum period.

A cardiopatia congênita é a condição cardíaca mais comum que complica gestações em países desenvolvidos. Além disso, mudanças no estilo de vida e a idade materna avançada, associadas a fatores de risco cardiovascular relacionados à idade como hipertensão, diabetes e obesidade, contribuem para o aumento da incidência de doenças cardíacas adquiridas. As mudanças fisiológicas normais da gravidez podem agravar condições cardíacas pré-existentes. A morbimortalidade materna relacionada a doenças cardiovasculares é significativa, destacando a necessidade de uma abordagem multidisciplinar e individualizada para essas pacientes. A estratificação de risco é essencial para orientar o manejo clínico. O planejamento da terminação da gestação deve ser individualizado, considerando os riscos maternos e fetais, idealmente em um centro de atendimento terciário e preferencialmente próximo ao termo para reduzir a morbimortalidade perinatal. O parto vaginal é o método preferido na maioria dos casos, com monitoramento contínuo do bem-estar materno e fetal durante o trabalho de parto e o parto, além de uma vigilância rigorosa materna no pós-parto.

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Introducción: la hiperplasia suprarrenal congénita (HSC) comprende un conjunto de enfermedades hereditarias que involucran alteraciones en el ciclo del cortisol a nivel enzimático. La forma clásica tiene una incidencia de 1:14.000 a 1:18.000 nacimientos, mientras que la no clásica se presenta en 1:2.000 recién nacidos. Según la enzima involucrada, las manifestaciones clínicas varían desde asintomáticas a alteraciones en medio interno que comprometen la vida, por lo que debe tenerse un alto nivel de sospecha clínica para diagnosticarla en forma oportuna. En Uruguay, desde el año 2007, se cuenta con el pesquisaje de la 17-OH progesterona, producto aumentado en la forma más frecuente de HSC. El diagnóstico prenatal mediante la búsqueda de mutaciones en el gen CYP21A2, a través de punción de vellosidades coriales o amniocentesis, o del ADN fetal en sangre materna se recomienda en HSC con ambos padres portadores de la mutación severa y el antecedente de un hijo previo con la forma clásica. El tratamiento prenatal se considera en etapa experimental, con dexametasona en fetos femeninos con riesgo de enfermedad clásica, manteniéndose con la confirmación hasta el parto. Se presenta el caso clínico de una recién nacida de 11 días con HSC perdedora de sal y virilización de genitales externos, diagnosticada por la pesquisa neonatal. Se reporta su manejo interdisciplinario y evolución. Conclusiones: la hiperplasia suprarrenal es una enfermedad hereditaria potencialmente grave. La pesquisa neonatal constituye una herramienta efectiva para la detección de esta enfermedad. El manejo multidisciplinario es clave para el seguimiento y la optimización del tratamiento.

Introduction: congenital adrenal hyperplasia (CAH) involves a set of hereditary diseases that include alterations in the cortisol cycle, at enzymatic level. The classic variant has an incidence of 1:14,000 to 1:18,000 births, while the non-classic one occurs in 1:2,000 newborns. As a result of the enzyme involved, the clinical manifestations change from asymptomatic to alterations in the internal environment that compromise life, so clinical suspicion must be high in order to diagnose it in a timely manner. The diagnosis is more frequently made by neonatal screening than by physical examination, and it is a more sensitive method, especially in males, since there are no changes at the level of external genitalia. The implementation of screening has reduced the time prior to diagnosis. In Uruguay, since 2007, a universal screening has been carried out measuring 17-OH progesterone, which is increased in the most frequent form of CAH. Treatment is lifelong, consisting of oral glucocorticoids (hydrocortisone) and mineralocorticoids (fludrocortisone). We recommend prenatal diagnosis by searching for mutations in the CYP21A2 gene through chorionic villus puncture or amniocentesis, or fetal DNA in maternal blood in cases of CAH if both parents are carriers of the severe mutation and have a history of a previous classic case. Prenatal treatment with dexamethasone is considered in the experimental stage, in female fetuses at risk of the standard disease, which is maintained until birth if confirmed. We present a clinical case of an 11-day-old newborn with salt-wasting congenital adrenal hyperplasia and virilization of the external genitalia, diagnosed by neonatal screening. We report her management and interdisciplinary evolution. Conclusion: adrenal hyperplasia is a potentially serious inherited disease. Neonatal screening is an effective tool for detecting this disease. Multidisciplinary management is key to monitoring and optimizing treatment.

Introdução: a hiperplasia adrenal congênita (HAC) compreende um conjunto de doenças hereditárias que envolvem alterações no ciclo do cortisol, em nível enzimático. A forma clássica tem incidência de 1:14.000 a 1:18.000 nascimentos, enquanto a forma não clássica ocorre em 1:2.000 recém-nascidos. Dependendo da enzima envolvida, as manifestações clínicas variam de assintomáticas até alterações do ambiente interno que comprometem a vida, portanto é necessário ter um alto nível de suspeita clínica para diagnosticá-la em forma precoce. No Uruguai, desde 2007, existe triagem para 17-OH progesterona, produto aumentado na forma mais frequente de HAC. O diagnóstico pré-natal pela busca de mutações no gene CYP21A2 por meio de punção de vilosidades coriônicas ou amniocentese, ou DNA fetal no sangue materno é recomendado na HAC com ambos os pais portadores da mutação grave e história de filho anterior com a forma clássica. O tratamento pré-natal é considerado em fase experimental, com dexametasona em fetos femininos com risco de doença clássica, continuando com confirmação até o parto. É apresentado o caso clínico de um recém-nascido de 11 dias com hiperplasia adrenal congênita perdedora de sal e virilização da genitália externa, diagnosticado por triagem neonatal. Relatamos sua gestão interdisciplinar e evolução. Conclusões: a hiperplasia adrenal é uma doença hereditária potencialmente grave. A triagem neonatal é uma ferramenta eficaz para detectar esta doença. O manejo multidisciplinar é fundamental para monitorar e otimizar o tratamento.

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