Hiperostosis cortical congénita: una causa infrecuente de llanto inconsolable del lactante. Presentación de caso clínico / Congenital cortical hyperostosis: a rare cause of inconsolable crying in a baby. Clinical case report

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.

Missed opportunities for prevention of congenital syphilis.

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.

Congenital diaphragmatic hernia: relationship between defect size and outcome. Experience in a reference centre.

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.

Fisiopatología de la hernia diafragmática congénita en el recién nacido / Pathophysiology of congenital diaphramatic hernia in the newborn

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.

Situacion de la sifilis congénita en Paraguay utilizando datos del sistema de informacion perinatal (sip plus)

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.

Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.

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.

¿Será realmente una verdadera comunicación interventricular? / Could it really be a true ventricular septal defect?

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.

Importancia de la genómica en el diagnóstico de nuevas variantes asociadas a trastornos del tejido conectivo con solapamiento fenotípico

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)

Una rara causa de falla cardíaca: reporte de un caso

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)

Asociación del consumo de drogas ilícitas en mujeres embarazadas y sífilis congénita en un Hospital Público de México / Association of illicit drug use in pregnant women and congenital syphilis in a public hospital in Mexico

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.

Cambios en Mecánica Respiratoria en Usuarios Pediátricos en Ventilación Mecánica Post Cirugía de Cardiopatía Congénita Sometidos a Kinesiología Respiratoria versus Succión Endotraqueal. Revisión Estructurada / Changes in Respiratory Mechanics in Pediatric Users on Mechanical Ventilation Post Congenital Heart Disease Surgery Undergoing Respiratory Kinesiology versus Endotracheal Suction. Structured Review

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.

[Translated article] Total hip arthroplasty with shelf acetabuloplasty in dysplastic coxarthrosis, mean follow-up of 7 years.

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.

[Association of illicit drug use in pregnant women and congenital syphilis in a public hospital in Mexico]. / Asociación del consumo de drogas ilícitas en mujeres embarazadas y sífilis congénita en un Hospital Público de México.

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.

Protocolo de vigilancia en salud pública: sífilis gestacional y congénita / Public health surveillance Protocol: gestational and congenital syphilis

La notificación de casos de sífilis congénita en Colombia ha tenido una disminución marcada desde el año 2014, debido a dos grandes acontecimientos que modificaron la vigilancia; el primero en ese mismo año, relacionado con la unificación de las fichas de notificación de los dos eventos y el segundo, en el 2015, referente a la entrada en vigencia de la nueva Guía de práctica clínica, la cual transforma las definiciones de caso cambiando entre otros, el algoritmo diagnóstico de la enfermedad; sin embargo, aún se evidencia sub-registro y silencio epidemiológico en parte del territorio nacional.

The notification of cases of congenital syphilis in Colombia has had a marked decrease since the year 2014, due to two major events that modified surveillance; the first in that same year, related to the unification of the notification sheets of the two events and the second, in 2015, regarding the entry into force of the new Guide clinical practice, which transforms the definitions of case changing among others, the diagnostic algorithm of the disease; however, there is still evidence under-registration and epidemiological silence in part of the national territory.

Protocolo de vigilancia en salud pública: síndrome de rubeola congénita / Public health surveillance protocol: congenital rubella syndrome

En Colombia, a través del sistema de vigilancia en salud pública SIVIGILA se notificaron 66 casos sospechosos de SRC en el 2007, 142 en el 2008, 203 en el 2009, 220 en el 2010, 290 en el 2011 y 281 en el 2012, todos con resultado serológico negativo para virus de rubéola. En el año 2013 se notificaron alSivigila un total de 379 casos sospechosos de SRC, al siguiente año la cifra ascendió a 456 casos y en 2015 se llegó a 531 casos notificados al sistema de vigilancia. En 2016 se reportaron 573 casos sospechosos lo que significa un aumento del 7,9 % respecto al año 2015. A semana epidemiológica 52 del año 2017 se reportaron 461 casos sospechosos en el territorio nacional sin casos confirmados.

In Colombia, through the health surveillance system public SIVIGILA 66 suspected cases were reported SRC in 2007, 142 in 2008, 203 in 2009, 220 in 2010, 290 in 2011 and 281 in 2012, all with negative serological result for rubella virus. On In 2013, a total of 379 cases were notified to the Sivigila SRC suspects, the following year the figure rose 456 cases and in 2015 there were 531 reported cases to the surveillance system. In 2016, 573 suspected cases which means an increase of 7.9 % compared to 2015. At epidemiological week 52 In 2017, 461 suspected cases were reported in the national territory without confirmed caseS.

Boletín epidemiológico semana 40: sífilis congénita y gestacional / Epidemiological bulletin week 40: congenital and gestational syphilis

La sífilis es una infección de transmisión sexual (ITS) causada por Treponema pallidum, que generalmente se transmite por contacto con úlceras infecciosas presentes en los genitales, el ano, el recto, la boca o por medio de transfusiones de sangre. También puede transmitirse de la madre al feto durante el embarazo (sífilis congénita). En la mayoría de los casos, esta enfermedad puede prevenirse y curarse fácilmente con tratamiento antibiótico. Sin embargo, si no se trata a tiempo, puede causar graves problemas de salud. En mujeres gestantes, la falta de un tratamiento temprano y eficaz puede provocar la transmisión de la infección al feto, lo que se conoce como sífilis congénita. Esta transmisión puede tener consecuencias devastadoras, incluyendo la muerte fetal o neonatal, parto prematuro, bajo peso al nacer y problemas de salud crónicos en el neonato infectado.

Syphilis is a sexually transmitted infection (STI) caused by Treponema pallidum, which is generally transmitted by contact with infectious ulcers present on the genitals, anus, rectum, mouth, or through blood transfusions. It can also be transmitted from mother to fetus during pregnancy (congenital syphilis). In most cases, this disease It can be easily prevented and cured with antibiotic treatment. Without However, if not treated in time, it can cause serious health problems. In pregnant women, the lack of early and effective treatment can cause transmission of the infection to the fetus, known as syphilis congenital. This transmission can have devastating consequences, including fetal or neonatal death, premature birth, low birth weight, and chronic health problems in the infected neonate.

Neurosyphilis in pediatric population: a review of cases / Neurossífilis na população pediátrica: revisão de casos / Neurosífilis en población pediátrica: revisión de casos

Background: Neurosyphilis is the most severe presentation of acquired and congenital syphilis, it occurs when Treponema pallidum penetrates the central nervous system. This development can occur at any time during the evolution of the disease phases. In Brazil in 2021, 2,343 children born with congenital syphilis were diagnosed with neurosyphilis, representing 9.3% of the total. The objective of this study was to analyze the scientific evidence on the medical manifestations presented by pediatric patients affected by neurosyphilis. Methods: In February 2023, PubMed, VHL, Scopus, Lilacs and Bdenf databases were researched for published case reports of patients aged zero to less than 18 years with T. pallidum infection. The data analysis period covered 55 years. Results: Nine articles were found in the period of publication from 1967 to 2022. There were two cases in females and only one with manifestation in an adolescent of acquired neurosyphilis. The adolescent's case was the only one with a favorable outcome after adequate treatment. Other cases resulted in impaired quality of life for patients and family members involved in child care. Conclusion: The reported cases of neurosyphilis were mostly related to late diagnosis. Evidencing the fragility of prenatal care, which is crucial for prevention and intervention by T. pallidum infection causes serious consequences for child development. Therefore, control measures should focus on mandatory prenatal screening during the first trimester of pregnancy, partner notification, prompt treatment and postnatal follow-up of the newborn.

Introdução: A neurossífilis é a apresentação mais grave da sífilis adquirida e congênita, ocorre quando o Treponema pallidum penetra no sistema nervoso central. Esse desenvolvimento pode ocorrer a qualquer momento durante a evolução das fases da doença. No Brasil, em 2021, 2.343 crianças nascidas com sífilis congênita foram diagnosticadas com neurossífilis, representando 9,3% do total. O objetivo deste estudo foi analisar as evidências científicas sobre as manifestações clínicas apresentadas por pacientes pediátricos acometidos por neurossífilis. Métodos: Em fevereiro de 2023, os bancos de dados PubMed, BVS, Scopus, Lilacs e Bdenf foram pesquisados para relatos de casos publicados de pacientes de zero a menos de 18 anos com infecção por T. pallidum. O período de análise dos dados abrangeu 55 anos. Resultados: Foram encontrados nove artigos no período de publicação de 1967 a 2022. Houve dois casos no sexo feminino e apenas um com manifestação em adolescente de neurossífilis adquirida. O caso da adolescente foi o único com evolução favorável após tratamento adequado. Outros casos resultaram em comprometimento da qualidade de vida dos pacientes e familiares envolvidos no cuidado da criança. Conclusão: Os casos notificados de neurossífilis foram, em sua maioria, relacionados ao diagnóstico tardio. Evidenciando a fragilidade do pré-natal, fundamental para a prevenção e intervenção da infecção pelo T. pallidum, trazendo sérias consequências para o desenvolvimento infantil. Portanto, as medidas de controle devem se concentrar na triagem pré-natal obrigatória durante o primeiro trimestre de gravidez, notificação do parceiro, tratamento imediato e acompanhamento pós-natal do recém-nascido.

Introducción: La neurosífilis es la presentación más grave de la sífilis adquirida y congénita, se presenta cuando Treponema pallidum penetra al sistema nervioso central. Este desarrollo puede ocurrir en cualquier momento durante la evolución de las fases de la enfermedad. En Brasil, en 2021, 2.343 niños nacidos con sífilis congénita fueron diagnosticados con neurosífilis, lo que representa el 9,3% del total. El objetivo de este estudio fue analizar la evidencia científica sobre las manifestaciones médicas que presentan los pacientes pediátricos afectados por neurosífilis. Métodos: en febrero de 2023, se investigaron las bases de datos PubMed, VHL, Scopus, Lilacs y Bdenf para obtener informes de casos publicados de pacientes de cero a menos de 18 años con infección por T. pallidum. El período de análisis de los datos abarcó 55 años. Resultados: Se encontraron nueve artículos en el período de publicación de 1967 a 2022. Hubo dos casos en el sexo femenino y solo uno con manifestación en un adolescente de neurosífilis adquirida. El caso de la adolescente fue el único con evolución favorable luego de un tratamiento adecuado. Otros casos resultaron en deterioro de la calidad de vida de los pacientes y familiares involucrados en el cuidado de niños. Conclusión: Los casos notificados de neurosífilis se relacionaron en su mayoría con un diagnóstico tardío. Evidenciando la fragilidad del control prenatal, que es fundamental para la prevención e intervención de la infección por T. pallidum que provoca graves consecuencias para el desarrollo infantil. Por lo tanto, las medidas de control deben centrarse en el tamizaje prenatal obligatorio durante el primer trimestre del embarazo, la notificación a la pareja, el tratamiento oportuno y el seguimiento posnatal del lactante.

Biological screening for congenital toxoplasmosis in newborns from Jataí, Goiás, Brazil: a cross-sectional study / Cribado biológico de la toxoplasmosis congénita en recién nacidos de Jataí, Goiás, Brasil: un estudio transversal / Triagem biológica de toxoplasmose congênita em recém-nascidos de Jataí, Goiás: um estudo transversal

ABSTRACT Objective: To conduct a serological screening for toxoplasmosis in the heel prick test and to evaluate its epidemiological aspects in newborns and postpartum women in Jataí, Goiás. Method: Cross-sectional epidemiological study for the biological screening of newborns in Jataí, Goiás. Results: The study participants amounted to 228 newborns, whose samples were collected between the third and seventh day of life. IgG antibodies against Toxoplasma gondii were detected in 40.79% (93/228) of the samples; out of these, 23.6% (22/93) had high IgG antibody titers, leading to the collection of two other peripheral blood samples and the detection of a decrease in these titers. Conclusion: The findings show the importance of strengthening actions in primary health care to prevent infection and training health professionals in this area to equip them with information regarding cases of reinfection and reactivation of infection in pregnant women, minimizing risks for babies.

RESUMEN Objetivo: Realizar un cribado serológico de la toxoplasmosis en la prueba del talón y evaluar sus aspectos epidemiológicos en los recién nacidos y puérperas en Jataí, Goiás. Método: Estudio epidemiológico transversal para el cribado biológico de los recién nacidos en Jataí, Goiás. Resultados: Participaron en el estudio 228 recién nacidos, cuyas muestras fueron recolectadas entre el tercer y séptimo día de vida. Se detectaron anticuerpos IgG contra Toxoplasma gondii en el 40,79% (93/228) de las muestras; de ellos el 23,6% (22/93) presentaban títulos elevados de anticuerpos IgG y de ellos se recogieron otras dos muestras de sangre periférica; se detectó una disminución de estos títulos. Conclusión: Los hallazgos muestran la importancia de fortalecer las acciones en la atención primaria de salud para prevenir la infección y capacitar a los profesionales de la salud en esta área para dotarlos de información sobre los casos de reinfección y reactivación de la infección en mujeres embarazadas, minimizando los riesgos para los bebés.

RESUMO Objetivo: Realizar a triagem sorológica da toxoplasmose no teste do pezinho e avaliar os aspectos epidemiológicos em recém-nascidos e puérperas de Jataí, Goiás. Método: Estudo epidemiológico transversal para a triagem biológica de recém-nascidos em Jataí, Goiás. Resultados: Participaram desta pesquisa 228 recém-nascidos, sendo coletadas amostras entre o terceiro e o sétimo dia de vida. Foram detectados anticorpos IgG anti Toxoplasma gondii em 40,79% (93/228) das amostras; destes, 23,6% (22/93) apresentaram altos títulos de anticorpos IgG e tiveram outras duas amostras de sangue periférico coletadas, sendo verificada a diminuição desses títulos. Conclusão: Tais achados demonstraram a importância do fortalecimento de ações junto à atenção primária à saúde para a prevenção da infecção, assim como a capacitação de profissionais da saúde que atuam nesta área, para que sejam munidos de informações referentes a casos de reinfecção e reativação da infecção em gestantes, minimizando os riscos para os bebês.

Catarata congênita nas infecções intrauterinas mais comuns (STORCH): revisão de literatura / Congenital cataract in the most common intrauterine infections (STORCH): a review of the literature

RESUMO Objetivo: O objetivo deste estudo foi revisar os aspectos clínicos e patológicos da catarata congênita secundária às infecções por sífilis, toxoplasmose, rubéola, citomegalovírus e herpes simples. Métodos: Trata-se de uma revisão de literatura, na qual foram incluídos artigos de periódicos indexados às bases de dados PubMed®, Cochrane, Lilacs, Embase e SciELO de 2010 a 2023. Resultados: Foram encontrados 45 artigos, e, após seleção, restaram 9 artigos. Além disso, foram adicionados artigos para enriquecer a discussão. A infecção por sífilis está relacionada a alterações corneanas. O citomegalovírus e a toxoplasmose estão relacionados com a coriorretinite e/ou microftalmia. A rubéola é responsável por causar catarata, glaucoma, microftalmia e retinite em sal e pimenta. Conclusão: Foram abordadas as principais etiologias infecciosas e seu quadro clínico na CC. O melhor tratamento para CC é cirúrgico associado a acompanhamento clínico, mas a prevenção é a maneira mais eficaz de combater a CC de etiologia infecciosa. O diagnóstico precoce e o tratamento efetivo previnem alterações e sequelas visuais irreversíveis. Nesse contexto, mostram-se importantes as ações de políticas públicas para o melhor desfecho clínico e melhor qualidade de vida.

ABSTRACT Objective: To review the clinical and pathological aspects of CC secondary to infections by syphilis, toxoplasmosis, rubella, cytomegalovirus, herpes simplex. Methods: This is a literature review. Articles from journals indexed to PubMed, COCHRANE, LILACS, EMBASE and SCIELO from 2010 to 2023 were included. Results: A total of 45 articles were found, which, after selection, remained in 9 articles. Some articles were included to enrich the discussion in this topic. The infection caused by syphilis is related to corneal changes. Cytomegalovirus and Toxoplasmosis due to chorioretinitis and/or microphthalmia. Rubella is responsible for causing cataracts, glaucoma, microphthalmia, and salt and pepper retinitis. Conclusion: The main infectious etiologies and their clinical status in CC were addressed. The best treatment for CC is surgery associated with clinical follow-up, but prevention is the most effective way to combat CC of infectious etiology. Early diagnosis and effective treatment prevent irreversible visual changes and sequelae. In this context, public policy actions are important for the best clinical outcome and better quality of life.

Long-term outcomes of intraoperative triamcinolone injection versus postoperative oral prednisolone in congenital cataract surgery / Resultados de longo prazo do uso intraoperatório de triancinolona versus oral pós-operatório de prednisolona na cirurgia de catarata congênita

ABSTRACT Purpose: To compare the long-term ocular findings of children that were operated of congenital cataract before the age of two and that received an intraoperative intracameral triamcinolone injection or used postoperative oral prednisolone to modulate ocular inflammation. Methods: All patients who had previously participated in a clinical trial that analyzed the 1-year surgical outcomes of congenital cataract surgery utilizing intracameral triamcinolone (study group) or oral prednisolone (control group) were eligible to participate in this prospective cohort research. Patients' medical records were reviewed, and the children underwent a complete ophthalmologic exam on final follow-up. Biomicroscopic findings, intraocular pressure, central corneal thickness, the need for additional surgical interventions, and findings compatible with glaucoma were the primary end measures. Results: Twenty-six eyes (26 patients) were included (study group = 11 eyes; control group = 15 eyes). The mean follow--up was 8.2 ± 1.2 years and 8.1 ± 1.7 years in the study and control groups, respectively (p=0.82). All eyes presented a centered intraocular lens. There was no statistically significant difference between the groups with regards to the presence of posterior synechia (p=0.56), intraocular pressure (p=0.49), or central corneal thickness (p=0.21). None of the eyes fulfilled the glaucoma diagnostic criteria, presented secondary visual axis obscuration, or were reoperated. Conclusion: The long--term ocular findings of children that underwent congenital cataract surgery and received an intraoperative intracameral triamcinolone injection were similar to those that used postoperative oral prednisolone to modulate ocular inflammation. This suggests that intracameral triamcinolone may substitute oral prednisolone in congenital cataract surgery, facilitating the postoperative treatment regimen and compliance.

RESUMO Objetivo: Comparar os achados oculares em longo prazo de crianças que se submeteram à cirurgia de catarata congênita antes dos dois anos de idade e receberam uma injeção intracameral de triancinolona no intraoperatório ou usaram prednisolona oral no pós-operatório para modular a inflamação ocular. Métodos: Neste estudo prospectivo de coorte, todos os pacientes que participaram de um ensaio clínico anterior, que analisou os resultados cirúrgicos de 1 ano da cirurgia de catarata congênita usando triancinolona intracameral (Grupo de Estudo) ou prednisolona oral (Grupo Controle), eram elegíveis para participar. Os prontuários médicos dos pacientes foram revisados e as crianças foram submetidas a um exame oftalmológico completo no acompanhamento final. As principais medidas de desfecho foram: achados biomicroscópicos, pressão intraocular, espessura central da córnea, a necessidade de intervenções cirúrgicas adicionais e achados compatíveis com glaucoma. Resultados: Vinte e seis olhos (26 pacientes) foram incluídos (Grupo de Estudo = 11 olhos; Grupo de Controle = 15 olhos). O seguimento médio foi de 8,2 ± 1,2 anos e 8,1 ± 1,7 anos nos Grupos de Estudo e Controle, respectivamente (p=0,82). Todos os olhos apresentavam lente intraocular centrada. Não houve diferença estatisticamente significativa entre os grupos com relação à presença de sinéquia posterior (p=0,56), pressão intraocular (p=0,49) ou espessura central da córnea (p=0,21). Nenhum dos olhos preencheu os critérios diagnósticos para glaucoma, apresentou opacificação secundária do eixo visual ou foi reoperado. Conclusão: Os achados oculares em longo prazo de crianças que se submeteram à cirurgia de catarata congênita e receberam uma injeção intracameral de triancinolona no intraoperatório foram semelhantes aos que usaram prednisolona oral no pós-operatório para modular a inflamação ocular, sugerindo que a triancinolona intracameral pode substituir a prednisolona oral na cirurgia de catarata congênita, facilitando o tratamento pós-operatório e a adesão ao mesmo.