Fractura craneal deprimida congénita ("fractura ping-pong") en neonatos como diagnóstico diferencial de maltrato físico / Congenital depressed skull fracture ("ping-pong" fracture) in newborn infants as a differential diagnosis of physical abuse

Las fracturas con hundimiento de cráneo sin una explicación clara sobre su origen orientan al traumatismo con un objeto romo y a la sospecha de maltrato infantil. En el caso de los bebés recién nacidos, su corta edad es un factor de vulnerabilidad y obliga a una exhaustiva evaluación. Ante la sospecha de maltrato infantil, resulta importante evaluar los diagnósticos diferenciales para realizar la intervención más adecuada posible. Es necesario evitar tanto intervenciones excesivas como omitir la intervención que sea necesaria. Las fracturas craneales deprimidas congénitas, descritas como "fracturas pingpong", son raras (0,3 a 2/10 000 partos). Pueden aparecer sin antecedentes traumáticos o en partos instrumentalizados. Se describe en este artículo el caso de un recién nacido con una fractura ping-pong como ejemplo de una fractura no intencional.

Depressed skull fractures without a clear explanation as to their origin point to trauma with a blunt object and suspected child abuse. In the case of newborn infants, their young age is a vulnerability factor and requires an exhaustive assessment. When child abuse is suspected, an assessment of the differential diagnoses is required to make the most appropriate intervention possible. Both an excessive intervention and an omission of a necessary intervention should be avoided. Congenital depressed skull fractures, described as "ping-pong fractures", are rare (0.3 to 2/10 000 births). They may appear without any trauma history or in instrumentalized childbirth. Here we describe the case of a newborn infant with a ping-pong fracture as an example of an accidental fracture.

Diagnóstico prenatal de clorhidrorrea congénita: reporte de caso / Prenatal diagnosis of congenital chloride diarrhea: A case report

La clorhidrorrea congénita es un trastorno genético infrecuente pero importante caracterizado por una alteración grave del balance hidroelectrolítico como resultado de un defecto en la absorción intestinal de cloruros. Los niños afectados presentan diarrea persistente, deshidratación y malnutrición; el control médico y del desarrollo son complejos. Mejorar la detección prenatal es esencial para facilitar la atención del paciente, las intervenciones tempranas y el asesoramiento genético informado. Sin embargo, a pesar de los avances de la medicina, la naturaleza compleja y la escasa frecuencia de esta entidad, constituyen un desafío para la detección prenatal. En este estudio, se reporta el caso de una embarazada donde los estudios por imágenes de resonancia magnética fetales identificaron en forma efectiva las características típicas de la clorhidrorrea congénita. Se proveen conocimientos sobre las complejidades del diagnóstico y se sugieren caminos para las estrategias de detección temprana de esta enfermedad.

Congenital chloride diarrhea (CCD) is a rare but significant genetic disorder characterized by severe electrolyte imbalances resulting from impaired intestinal chloride absorption. Affected children experience persistent diarrhea, dehydration, and malnutrition, complicating medical and developmental care. The enhancement of prenatal detection is crucial for improved patient management, early interventions, and informed genetic counseling. However, despite advancements in medicine, the complex nature and rarity of CCD make prenatal detection challenging. In this study, we report a fetal case where prenatal magnetic resonance imaging (MRI) effectively identified the distinctive characteristics of CCD, providing insights into the complexities of diagnosis and suggesting avenues for enhanced early detection strategies.

Eventos adversos em crianças submetidas a cirurgias orofaciais / Adverse events in children submitted to orofacial surgery / Eventos adversos en niños sometidos a cirugía orofacial

Objetivo: Identificar os eventos adversos no pós-operatório imediato de queiloplastia e/ou palatoplastia em crianças e comparar os eventos identificados aos notificados ao Núcleo de Segurança do Paciente. Métodos: Estudo descritivo, retrospectivo e quantitativo, realizado em um hospital público e terciário brasileiro. Os dados foram coletados por meio da descrição nos registros de enfermagem e comparados aos notificados ao Núcleo de Segurança do Paciente, referente a junho e dezembro de 2019. Os resultados foram submetidos a análise estatística descritiva. Resultados: A amostra constou de 203 crianças, das quais 51% (n=103) apresentaram evento adverso. Foram identificados 176 eventos adversos, de 8 tipos, com prevalência da laringite pós-extubação (n=50; 28%), edema de língua (n=34; 19%) e lesão de comissura labial (n=25; 14%). Destes, apenas 5% (n=9) foram notificados ao Núcleo de Segurança do Paciente. Conclusão: Os eventos adversos prevalentes se relacionaram a cavidade oral e tecidos adjacentes, e a subnotificação foi expressiva. (AU)

Objective: To identify adverse events in the immediate postoperative period of cheiloplasty and/or palatoplasty in children and compare the identified events to those notified to the Patient Safety Center. Methods: Descriptive, retrospective and quantitative study, carried out in a Brazilian public and tertiary hospital. Data were collected through descriptions in nursing records and compared to those notified to the Patient Safety Center, referring to June and December 2019. The results were subjected to descriptive statistical analysis. Results: The sample consisted of 203 children, of which 51% (n=103) had an adverse event. A total of 176 adverse events of 8 types were identified, with prevalence of post-extubation laryngitis (n=50; 28%), tongue edema (n=34; 19%) and labral commissure lesion (n=25; 14%). Of these, only 5% (n=9) were notified to the Patient Safety Center. Conclusion: The prevalent adverse events were related to the oral cavity and adjacent tissues, and underreporting was significant. (AU)

Objetivo: Identificar eventos adversos en el postoperatorio inmediato de queiloplastia y/o palatoplastia en niños y comparar los eventos identificados con los notificados al Centro de Seguridad del Paciente. Métodos: Estudio descriptivo, retrospectivo y cuantitativo, realizado en un hospital público y terciario brasileño. Los datos se recolectaron mediante descripciones en registros de enfermería y se compararon con los notificados al Centro de Seguridad del Paciente, referidos a junio y diciembre de 2019. Los resultados fueron sometidos a análisis estadístico descriptivo. Resultados: La muestra estuvo conformada por 203 niños, de los cuales el 51% (n = 103) tuvo un evento adverso. Se identificaron un total de 176 eventos adversos de 8 tipos, con prevalencia de laringitis posextubación (n=50; 28%), edema de lengua (n=34; 19%) y lesión de la comisura del labrum (n=25; 14%). De estos, solo el 5% (n=9) fueron notificados al Centro de Seguridad del Paciente. Conclusion: Los eventos adversos prevalentes se relacionaron con la cavidad bucal y los tejidos adyacentes y el subregistro fue significativo. (AU)

Congenital hyperinsulinism and surgical outcome in a single tertiary center in Brazil

Abstract Objective: Congenital hyperinsulinism (CHI) is a heterogeneous genetic disease characterized by increased insulin secretion and causes persistent hypoglycemia in neonates and infants due to dysregulation of insulin secretion by pancreatic β cells. Babies with severe hypoglycemia and for whom medical treatment has been ineffective usually require surgical treatment with near-total pancreatectomy. To evaluate the clinical and surgical aspects affecting survival outcomes in babies diagnosed with CHI in a single tertiary care center. Methods: Retrospective Cohort study involving a single university tertiary center for the treatment of CHI. The authors study the demographics, clinical, laboratory, and surgical outcomes of this casuistic. Results: 61 % were female, 39 % male, Birth weight: 3576 g (±313); Age of onset of symptoms: from the 2nd hour of life to 28 days; Time between diagnosis and surgery ranged between 10 and 60 days; Medical clinical treatment, all patients received glucose solution with a continuous glucose infusion and diazoxide. 81 % of the patients used corticosteroids, 77 %. thiazide, 72 % octreotide, 27 % nifedipine; Neurological sequelae during development and growth: 54 % had some degree of delay in neuropsychomotor development, 27 % obesity. Surgery was performed open in 6 and 12 minimally invasive surgery (MIS). Histopathology: 2 focal and 16 diffuse, Length of stay (days) was lower in MIS (p < 0.05). Survival was 100 %. Conclusions: CHI is a rare and difficult-to-manage tumor that must be performed in a multidisciplinary and tertiary center. Most surgical results are good and the laparoscopic approach to disease has been the best choice for patients.

Aneurisma de la vena yugular interna, presentación de caso en adulto / Internal jugular venous aneurysm in an adult: case report

Se presenta el caso de una paciente de 77 años, en quien, durante una cirugía de resección de tumor cutáneo, se observa incidentalmente aumento de volumen cervical derecho de características dinámicas. El hallazgo corresponde a un aneurisma de la vena yugular interna derecha, diagnóstico de mayor frecuencia en población pediátrica, habitualmente de curso benigno.

A 77-year-old woman in whom, during a skin tumor resection surgery, a right cervical swelling with dynamic characteristics was observed. The finding is compatible with an aneurysm of the right internal jugular vein, more commonly obsered in children, usually with a benign course.

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.

Prevalence of neonatal lupus in a small group of antibody-carrying mothers and frequency of complete atrioventricular block / Prevalencia de lupus neonatal en un pequeño grupo de madres portadoras de anticuerpos y frecuencia de bloqueo auriculoventricular completo

Abstract Background: Neonatal lupus (NL) is extremely rare and is caused by the transplacental passage of maternal IgG autoantibodies against Ro, La, and/or RNP proteins into the fetal circulation, which can cause congenital complete atrioventricular block (CCAB), permanent skin lesions, and liver involvement. Objective: To know the prevalence of NL in patients with CCAB and the clinical course in long-term follow-up. Methods: From January 1992 to December 2017, patients with CCAB were included. The presence of anti-SSA/Ro and anti-SSB/La antinuclear antibodies in maternal serum confirmed NL. Results: Eight patients were included with a follow-up of 10 ± 6 years; NL was concluded in 62.5%; two were male. One of them was diagnosed in utero, two at birth, and a pacemaker was implanted in them, one at 12 years of age and another at 15. The other two cases were diagnosed at 18 and 26 years of age, and permanent pacemakers were implanted 8 and 5 years later, respectively. In one case, a definitive pacemaker was not implanted in a newborn with only 1 year of follow-up. At delivery, 60% of the mothers were free of rheumatic disease, and altogether, they all had 19 children; none of them presented NL manifestations. Conclusions: CCAB is rare and frequently associated with a maternal autoimmune disease, practically all of them will require a definitive pacemaker at some point in their lives.

Resumen Antecedentes: El lupus neonatal (LN) es extremadamente raro y es ocasionado por el paso transplacentario de auto-anticuerpos maternos IgG contra las proteínas Ro, La y/o RNP a la circulación fetal que puede ocasionar bloqueo aurículo-ventricular completo congénito (BAVCC) permanente, lesiones dérmicas y afectación hepática. Objetivo: Conocer la prevalencia de LN en paciente con BAVCC y la evolución clínica en un seguimiento a largo plazo. Métodos: De enero de 1992 a diciembre 2017 se incluyeron paciente con BAVCC. La presencia de anticuerpos antinucleares anti-SSA/Ro y anti-SSB/La en suero materno confirmó LN. Resultados: Ocho pacientes fueron incluidos con seguimiento de 10 ± 6 años, el 62.5 % con LN; dos fueron del sexo masculino. Uno diagnosticado in útero, dos al nacimiento, en ellos se implantó marcapaso; uno a los 12 años de edad y otro a los 15. Los otros dos casos fueron diagnosticados a los 18 y 26 años, se implantó marcapaso definitivo en ellos 8 y 5 años después respectivamente. En un caso no se implantó marcapaso definitivo; un recién nacido con solo un año de seguimiento. Al dar a luz, el 60 % de las madres estaban libres de enfermedad reumática y en conjunto todas tuvieron 19 hijos, ninguno de ellos presentó manifestaciones de LN. Conclusiones: El BAVCC es raro y frecuentemente está asociado a una enfermedad autoinmune materna, prácticamente todos requerirán de marcapaso definitivo en alguna época de su vida.

Epidemiología y resultados del paro cardiorrespiratorio pediátrico en la unidad de recuperación cardiovascular de un hospital público en Argentina / Epidemiology and outcomes of pediatric cardiac arrest in a cardiovascular unit at a public hospital in Argentina

Resumen Antecedentes: Los niños con cardiopatías congénitas experimentan paro cardiorrespiratorio (PCR) con mayor frecuencia que la población pediátrica general. Se desconoce la epidemiología exacta del PCR en nuestro medio, al igual que el riesgo de mortalidad y los factores que influyen en la evolución neurológica. Objetivo: Describir la epidemiología y los resultados asociados con la reanimación cardiopulmonar pediátrica en una unidad de recuperación cardiovascular. El criterio de valoración primario fue la supervivencia al momento del alta hospitalaria; los secundarios fueron el retorno de la circulación espontánea, la supervivencia a las 24 horas y la condición neurológica en el largo plazo. Método: Estudio de cohorte longitudinal, descriptivo, prospectivo, en menores de 18 años que requirieron reanimación cardiopulmonar entre 2016 y 2019. Se analizaron las variables demográficas y las características del paro cardiorrespiratorio y de la reanimación, así como su resultado. Se realizaron análisis de una y múltiples variables para comparar a los pacientes sobrevivientes con los fallecidos. Resultados: De los 1,842 pacientes internados, el 4.1% experimentó PCR. Se analizaron 50 pacientes con expedientes completos. Se logró el retorno de la circulación espontánea en el 78% (39), con una supervivencia alta del 46%. La reanimación > 6 min y el uso de fármacos vasoactivos fueron factores predictivos de mortalidad; se realizó el seguimiento de 16/23 pacientes, 10 de ellos con desarrollo normal para la edad luego de seis meses, seis tenían trastorno generalizado del desarrollo. Conclusiones: El 4.1% de los pacientes presentó un PCR, con una tasa de 3.4 PCR por 1,000 días-paciente. La supervivencia al egreso hospitalario (n = 50) fue del 46%. La reanimación > 6 min y la utilización de fármacos vasoactivos fueron factores predictivos independientes de mortalidad. Luego de seis meses, el 63% tenía desarrollo neurológico normal para la edad.

Abstract Background: Children with congenital heart disease present a higher frequency of cardiorespiratory arrest (CRA) than the general pediatric population. The epidemiology of CRA is not exactly known in our setting, nor are the mortality risk or the neurological evolution factors. Objective: To describe the epidemiology and outcomes associated with pediatric cardiopulmonary resuscitation in a cardiovascular recovery unit. The primary endpoint was the survival to discharge and the secondary endpoints were the return to spontaneous circulation, the survival at 24 hours and the remote neurological condition. Methods: Descriptive, prospective, longitudinal cohort study in children under 18 years of age who required cardiopulmonary resuscitation between 2016 and 2019. Demographic variables, characteristics of cardiopulmonary arrest, resuscitation and outcome were analyzed. An uni- and multivariate analysis was performed comparing survivors and deceased. Results: Out of 1,842 hospitalized patients, 4.1% presented CRA. Fifty patients with complete records were analyzed. Seventy-eight percent (39) returned to spontaneous circulation with a high survival rate of 46%. Resuscitation > 6 min and the use of vasoactive drugs were predictors of mortality; 16/23 patients were followed up, 10 of them with normal development for age at 6 months, six had pervasive developmental disorder. Conclusions: 4.1% of patients presented CRA, with a rate of 3.4 CRA per 1,000 patient-days. Survival at hospital discharge (n = 50) was 46%. Resuscitation > 6 min and the use of vasoactive drugs were independent predictors of mortality. At six months, 63% had normal neurological development for age.

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.

Duplicación del colédoco asociado a unión biliopancreática anómala: Reporte de caso / Common bile duct duplication associated with anomalous biliopancreatic junction: A case report

Introducción. La duplicación del colédoco es una anomalía congénita poco frecuente. En la mayoría de los casos este defecto se asocia a cálculos en la vía biliar, unión pancreatobiliar anómala, pancreatitis, cáncer gástrico o colangiocarcinoma. Por esta razón, el diagnóstico y el tratamiento temprano son importantes para evitar las complicaciones descritas a futuro. Métodos. Se presenta el caso de una paciente de 30 años, con antecedente de pancreatitis aguda, con cuadro de dolor abdominal crónico, a quien se le realizaron varios estudios imagenológicos sin claro diagnóstico. Fue llevada a manejo quirúrgico en donde se documentó duplicación del colédoco tipo II con unión pancreatobiliar anómala. Resultados. Se hizo reconstrucción de las vías biliares y hepatico-yeyunostomía, con adecuada evolución postoperatoria y reporte final de patología sin evidencia de tumor. Conclusión. El diagnóstico se hace mediante ecografía endoscópica biliopancreática, colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El tratamiento depende de si está asociado o no a la presencia de unión biliopancreática anómala o cáncer. Si el paciente no presenta patología neoplásica, el tratamiento quirúrgico recomendado es la resección del conducto con reconstrucción de las vías biliares.

Introduction. Double common bile duct is an extremely rare congenital anomaly. This anomaly may be associated with bile duct stones, anomalous biliopancreatic junction, pancreatitis, bile duct cancer, or gastric cancers. Thus, early diagnosis and treatment is important to avoid complications. Clinical case. We report a rare case of double common bile duct associated with an anomalous biliopancreatic junction in a 30-year-old female, with prior history of acute pancreatitis, who presented with chronic abdominal pain. She underwent several imaging studies, without clear diagnosis. She was taken to surgical management where duplication of the type II common bile duct was documented with anomalous pancreatobiliary junction. Results. Reconstruction of the bile ducts and hepatico-jejunostomy were performed, with adequate postoperative evolution and final pathology report without evidence of tumor. Conclusion. Diagnosis is usually performed by an endoscopic ultrasound, magnetic resonance cholangiopancrea-tography, or endoscopic retrograde cholangiopancreatography. Treatment depends on the presence of anomalus biliopancreatic junction or concomitant cancer. In cases without associated malignancy, resection of bile duct and biliary reconstruction is the recommended surgical treatment.

Guías Latinoamericanas de Infecciones Congénitas y Perinatales de la Sociedad Latinoamericana de Infectología Pediátrica (SLIPE). Parte II / Latin American Guidelines on Congenital and Perinatal Infections from the Latin-American Society of Pediatric Infectious Diseases (SLIPE). Part II

Las infecciones perinatales son una causa de morbilidad, tanto fetal como neonatal, y que compromete la salud de la mujer embarazada, por lo que su diagnóstico, tratamiento, e intento de eliminación son una prioridad en América Latina y el Caribe. Este documento representa la segunda entrega realizada por expertos en la región dentro de la Sociedad Latinoamericana de Infectología Pediátrica (SLIPE), brindando una mirada actualizada en el manejo de las infecciones congénitas y entrega herramientas para detectar posibles momentos estratégicos de intervención y cambio en el manejo de las infecciones congénitas.

Perinatal infections are a major cause of morbidity and mortality in the fetus, neonate, and the health of the pregnant woman. Diagnosis, treatment, and the search for elimination of these diseases are a priority in Latin America and the Caribbean. This document represents the second delivery by a group of experts in the region inside the Latin-American Society of Pediatric Infectious Diseases (SLIPE), presenting a up-to-date look into the management of congenital infectious diseases and give a tool to detect possible strategic sceneries and a change in the management of congenital infections in our region.

Perceptions and feelings of pregnant women undergoing outpatient follow-up for toxoplasmosis

Introduction: Toxoplasmosis persists as a neglected disease and poses a challenge to public health, especially due to the risk of vertical transmission, which can lead to countless biological complications for the newborn and to psychological and emotional repercussions for the mother. Objective: To understand the perceptions and feelings of pregnant women affected by toxoplasmosis undergoing outpatient follow-up. Materials and Methods: A qualitative and exploratory study developed with 12 women with gestational toxoplasmosis undergoing specialized outpatient follow-up in a municipality from the state of Paraná, Brazil. The data were collected through semi-structured individual interviews and subjected to content analysis, supported by descending hierarchical classification. Results: The pregnant women experienced situations ranging from diagnosis and treatment to preventing the disease in the child and family. These experiences generated fear, distress and uncertainty about the disease, which were not adequately addressed during prenatal assistance in primary care. However, the pregnant women emphasized the importance of the multiprofessional team at the secondary level in monitoring and health education. Discussion: Although the pregnant women felt confident about the treatment and its implications for the child's health, discovering the diagnosis impacted their everyday lives and those of their families, especially due to lack of reliable information about toxoplasmosis and to the absence of emotional support at the primary level. Conclusions: There was a temporary scenario of disinformation among these women, who were not properly guided and supported. However, the guidelines offered in secondary health care were essential for improving knowledge and practices in health.

Síndrome de Eisenmenger secundario a comunicación interatrial tipo ostium secundum en mujer adulta / Eisenmenger Syndrome Associated with an ostium secundum Atrial Septal Defect in an Adult Woman

El síndrome de Eisenmenger es la forma más severa de presentación de hipertensión arterial pulmonar secundaria a defectos cardíacos congénitos no reparados, aunque su prevalencia es baja, continúa siendo un reto para los sistemas de salud de los países en vías de desarrollo por su complejidad en el manejo. Presentación del caso. Paciente femenina sin antecedentes médicos conocidos quien consulta por disnea relacionada a los esfuerzos y policitemia. Intervención terapéutica. Se realiza ecocardiograma transesofágico que arroja la presencia de defecto interatrial tipo ostium secundum e hipertensión arterial pulmonar severa, con cortocircuito de derecha a izquierda, se inicia oxigenoterapia y terapia farmacológica. Evolución clínica. Paciente permaneció ingresada presentando notable mejora a la disnea, se le dio de alta con referencia a la clínica de cardiopatías congénitas del adulto en Hospital Nacional Rosales.

Eisenmenger syndrome is the most severe form of pulmonary arterial hypertension secondary to an unrepaired congenital heart disease. Despite the low prevalence, it remains a challenge for the public health service of developing countries due to the complexity of the treatment. Case presentation. A female patient without known medical history, who consults with dyspnea on exertion and polycythemia. Treatment. A transesophageal echocardiogram was performed, showing an ostium secundum atrial septal defect and severe pulmonary arterial hypertension with a right-left shunt. Supplemental oxygen was administrated and pharmacological treatment was started. Outcome. The patient presented remarkable clinical improvement to dyspnea, she was discharged with medical reference to the Adult Congenital Heart Disease clinic at Rosales National Hospital.

Prevalence of Critical Congenital Heart Disease Detected in the Pulse Oximetry Test in Asymptomatic Newborns, ≥35 Gestational Weeks, in a Maternity in Southern Brazil

Abstract Background Congenital heart diseases (CHD) are one of the most prevalent malformations, and the screening tests to identify critical congenital heart disease (CCHD) is the pulse oximetry test, with subsequent investigation and treatment. Objective To quantify positive pulse oximetry tests and verify the prevalence of CCHD detected by it in asymptomatic newborns, ≥35 gestational weeks, in a Brazilian maternity hospital. Methodology This is an observational, retrospective, quantitative, analytical and cross-sectional study, conducted from October 2020 to May 2022, in a maternity hospital in southern Brazil, through the collection of records of positive oximetry pulse tests, following the norms of screening CCHD test of the Brazilian Society of Pediatrics (SBP), after they were evaluated with echocardiography for confirmation or exclusion of CHD. Results A total of 5,667 newborns were evaluated in this study, according to the inclusion criteria; 0.17% (n = 10) had a positive pulse oximetry test. Regarding the results of the echocardiography of the neonates with a positive test, two were normal, seven were cases of patent foramen ovale (PFO), and one was a case (0,017%) with interatrial communication (IAC) diagnosis. In the same period, five neonates with CCHD were born, symptomatic, diagnosed by physical examination, and referred to neonatal intensive care units (NICU) before taking the neonatal cardiac screening (< 24 hours of life). Conclusion The prevalence of positive pulse oximetry tests was 0.17% and none CCHD was detected. Five cases of CCHD were born in this period, but they were diagnosed before the recommend time to perform the screening test.

Patients' prognosis with congenital heart disease followed by ten years: survival and associated factors / Prognóstico de pacientes com cardiopatia congênita seguidos por dez anos: sobrevida e fatores associados

ABSTRACT Objective: To evaluate the prognosis and influence of associated factors in patients with congenital heart disease admitted for the first time to the Intensive Care Unit of the Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, especially those factors associated with death. Methods: Patients were prospectively and consecutively allocated over a period of one year (August 2005 to July 2006). Now, 15 years after the initial selection, we collected data from these patients in the database of the Cytogenetics Laboratory of the Universidade Federal de Ciências da Saúde de Porto Alegre and in the medical records of the hospital. Results: Of the 96 patients, 11 died and 85 were alive until 20 years old. Four patients died in the Intensive Care Unit. The survival probability up to 365 days of life was 95.8%. The survival assessment identified that the deaths occurred mainly before the patients completed one thousand days of life. We found that complex heart disease was independently associated with an odds ratio of 5.19 (95% confidence interval — CI:1.09-24.71; p=0.038) for death. Conclusions: Knowledge about the factors that interfere with the prognosis can be crucial in care practice planning, especially considering that congenital heart disease is an important cause of mortality in the first year of life.

RESUMO Objetivo: Avaliar o prognóstico e a influência de fatores associados em pacientes com cardiopatia congênita internados pela primeira vez na Unidade de Terapia Intensiva do Hospital da Criança Santo Antônio/Irmandade da Santa Casa de Misericórdia de Porto Alegre, principalmente aqueles fatores associados ao óbito. Métodos: Os pacientes foram alocados prospectiva e consecutivamente por um período de um ano (agosto de 2005 a julho de 2006). Agora, 15 anos após a seleção inicial, coletamos dados desses pacientes no banco de dados do Laboratório de Citogenética da Universidade Federal de Ciências da Saúde de Porto Alegre e nos prontuários do hospital. Resultados: Dos 96 pacientes, 11 faleceram e 85 permaneceram vivos até completar 20 anos. Quatro pacientes morreram na Unidade de Terapia Intensiva. A probabilidade de sobrevida até 365 dias de vida foi de 95,8%. A avaliação da sobrevida identificou que os óbitos ocorreram principalmente antes de os pacientes completarem mil dias de vida. Verificamos que a doença cardíaca complexa foi independentemente associada a um odds ratio de 5,19 (intervalo de confiança — IC95% 1,09-24,71; p=0,038) para morte. Conclusões: O conhecimento dos fatores que interferem no prognóstico pode ser fundamental no planejamento da prática assistencial, principalmente considerando-se que as cardiopatias congênitas são importante causa de mortalidade no primeiro ano de vida.

Role of Computed Tomography Angiography in the Short-Term Follow-up of Aortic Coarctation Repair

ABSTRACT Introduction: Coarctation of the aorta (CoA) is a narrowing of the thoracic aorta that often manifests as discrete stenosis but may be tortuous or in long segment. The study aimed to evaluate pre and post-surgical aspects of pediatric patients submitted to CoA surgical correction and to identify possible predisposing factors for aortic recoarctation. Methods: Twenty-five patients were divided into groups according to presence (N=8) or absence (N=17) of recoarctation after surgical correction of CoA and evaluated according to clinical-demographic profile, vascular characteristics via computed angiotomography (CAT), and other pathological conditions. Results: Majority of males (64%), ≥ 15 days old (76%), ≥ 2.5 kg (80%). There was similarity between groups with and without recoarctation regarding sex (male: 87% vs. 53%; P=0.277), age (≥ 15 days: 62.5 vs. 82%; P=0.505), and weight (≥ 2.5 kg: 87.5 vs. 76.5; P=0,492). Altered values of aortic root/Valsalva diameter, proximal transverse arch, and distal isthmus, and normal values for aorta prevailed in preoperative CAT. Normal values for the aortic root/Valsalva sinus diameter were observed with and without recoarctation, the same for both groups regarding ascending and descending aorta in postoperative CAT. No significant difference for altered values of proximal transverse arch and alteration in distal isthmus was observed. Conclusion: No predictive risk for recoarctation was observed. CTA proved to be important in CoA diagnosis and management, since CoA is mainly related with altered diameter of aortic root/sinus of Valsalva and proximal and distal aortic arch/isthmus, however, it failed to show predictive risk for recoarctation.

Lactate and Lactate Clearance Are Predictive Factors for Mortality in Patients with Extracorporeal Membrane Oxygenation

ABSTRACT Introduction: Findings of inadequate tissue perfusion might be used to predict the risk of mortality. In this study, we evaluated the effects of lactate and lactate clearance on mortality of patients who had undergone extracorporeal membrane oxygenation (ECMO). Methods: Patients younger than 18 years old and who needed venoarterial ECMO support after surgery for congenital heart defects, from July 2010 to January 2019, were retrospectively analyzed. Patients successfully weaned from ECMO constituted Group 1, and patients who could not be weaned from ECMO were in Group 2. Postoperative clinics and follow-ups of the groups including mortality and discharge rates were evaluated. Results: There were 1,844 congenital heart surgeries during the study period, and 55 patients that required ECMO support were included in the study. There was no statistically significant difference between the groups regarding demographics and operative variables. The sixth-, 12th-, and 24th-hour lactate levels in Group 1 were statistically significantly lower than those in Group 2 (P=0.046, P=0.024, and P<0.001, respectively). There were statistically significant differences regarding lactate clearance between the groups at the 24th hour (P=0.009). The cutoff point for lactate level was found as ≥ 2.9, with 74.07% sensitivity and 78.57% specificity (P<0.001). The cutoff point for lactate clearance was determined as 69.44%, with 59.26% sensitivity and 78.57% specificity (P=0.003). Conclusion: Prognostic predictive factors are important to initiate advanced treatment modalities in patients with ECMO support. In this condition, lactate and lactate clearance might be used as a predictive marker.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Access to emergency surgical treatment for congenital heart diseases in the state of São Paulo

Abstract Objective To analyze access to surgical care for congenital heart diseases in public specialized centers in the state of São Paulo before and during the COVID-19 pandemic and availability of surgical care in specialized hospitals, to identify bottlenecks in the care path for neonatal cardiac surgery. Methods This study included 1,437 children, under one year old, with congenital heart disease and formal referral to heart surgery between February 1, 2019, and February 28, 2021. Quantitative data analysis was performed using t-tests or the Mann-Whitney test. Results Approximately 30 % of children with urgent congenital heart disease could not access recommended care, mainly those needing complex surgeries (categories RACHS 4 to 6). The main diagnoses of neonates accessing care were patency of the ductus arteriosus (10.5 %) and coarctation of the aorta (10.1 %). Referral time for children in RACHS 1 to 3 was 4 days (median), while for those in categories 4 to 6, it was 7 days (p< 0.001). Longer referral time (20 days) was associated with court orders. During the pandemic, referral time decreased to 3 days, compared to 5 days (median) in the pre-pandemic period (p< 0.001). Conclusion The emergency surgical treatment supply for congenital heart diseases is insufficient compared to the current demand. Future research should evaluate if access to care in publicly funded hospitals could be improved by better access to prenatal care for pregnant women, increased diagnostic and therapeutic capacity in pediatric cardiology, and financial incentives for complex cardiac surgeries.