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.

Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome / 中华医学遗传学杂志

OBJECTIVE@#To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS).@*METHODS@#The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy individuals and two newborns with CCHS, respectively.@*RESULTS@#Among the 1036 alleles of the 518 healthy individuals, five alleles were identified, including (GCN)7, (GCN)13, (GCN)14, (GCN)15 and (GCN)20. The frequency of the (GCN)20 allele was the highest (94.79%). And five genotypes were identified, which included (GCN)7/(GCN)20, (GCN)13/(GCN)20, (GCN)14/(GCN)20, (GCN)15/(GCN)20, (GCN)20/(GCN)20. The homozygous genotypes were all (GCN)20/(GCN)20, and the carrier rate was 89.58%. Four GCN sequences of the (GCN)20 homozygous genotypes were identified among the 464 healthy individuals. The GCN repeat numbers in the exon 3 of the PHOX2B gene showed no significant difference between the expected and observed values, and had fulfilled the,Hardy-Weinberg equilibrium. The genotypes of the two CCHS patients were (GCN)20/(GCN)25 and (GCN)20/(GCN)30, respectively.@*CONCLUSION@#It is important to determine the GCN repeats and genotypic data of the exon 3 of the PHOX2B gene among the healthy individuals. The number of GCN repeats in 518 healthy individuals was all below 20. The selection of appropriate methods can accurately detect the polyalanine repeat mutations (PARMs) of the PHOX2B gene, which is conducive to the early diagnosis, intervention and treatment of CCHS.

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.

Malformaciones müllerianas: actualización y revisión a propósito de casos clínicos, 2022 / Müllerian malformations: update and review of clinical cases, 2022

Las malformaciones müllerianas (MM) son un grupo de anomalías estructurales originadas por fallas de desarrollo de los conductos paramesonéfricos o de Müller durante las primeras 16 semanas de gestación. Un oportuno diagnóstico y una correcta clasificación permiten ofrecer el mejor manejo y diferenciar aquellas pacientes que requieren tratamiento quirúrgico. Se realizó una revisión de la literatura sobre MM en las bases de datos Epistemonikos, SciELO, Cochrane y PubMed. Se rescataron todas las pacientes ingresadas con diagnóstico de MM. En el año 2021, la American Society of Reproductive Medicine publicó un consenso en el que se estandarizó la nomenclatura, se amplió el espectro y se simplificó la clasificación. La clínica es variada, e incluye pacientes asintomáticas cuyo diagnóstico es un hallazgo por imágenes. Los mejores estudios imagenológicos son la resonancia magnética (RM) y la ultrasonografía 3D, dejando la histeroscopia y la laparoscopia (método de referencia) como procedimiento diagnóstico-terapéutico. Se presentan casos clínicos desarrollados durante el primer trimestre de 2022. Recomendamos la utilización sistemática de la RM para el diagnóstico de anomalías complejas u obstructivas del aparato genital. El tratamiento de estas patologías debe ser realizado por ginecólogos endoscopistas expertos, e incluye tratamiento médico y quirúrgico, el cual debe ser enfocado en cada paciente dependiendo del tipo de MM y de los deseos de fertilidad.

Müllerian malformations (MM) are a group of structural anomalies caused by developmental failure of the paramesonephric or Müllerian ducts during the first 16 weeks of gestation. Timely diagnosis and classification allow us to offer the best management and to differentiate those patients who require surgical treatment. Literature review on MM in Epistemonikos, SciELO, Cochrane and PubMed databases. All patients admitted with a diagnosis of MM were rescued. In 2021, the American Society of Reproductive Medicine publishes a consensus where it standardizes the nomenclature, broadens the spectrum, and simplifies the classification. The clinical picture is varied and includes asymptomatic patients whose diagnosis is an imaging finding. The best imaging studies are magnetic resonance imaging (MRI) and 3D ultrasonography, leaving hysteroscopy and laparoscopy (gold standard) as diagnostic therapeutic. Clinical cases developed during the first trimester 2022 are presented. We recommend the routine use of MRI for the diagnosis of complex and/or obstructive anomalies of the genital tract. The treatment of these pathologies should be performed by expert endoscopic gynecologists and include medical and surgical treatment, which should be focused on each patient, depending on the type of MM and fertility desires.

Alterações auditivas em recém-nascidos de gestantes com diagnóstico de covid-19: uma revisão sistemática / Hearing changes in newborns whose mothers had been diagnosed with COVID-19 during pregnancy: A systematic review / Alteraciones auditivas en recién nacidos de mujeres embarazadas con diagnóstico de covid-19: una revisión sistemática

Introdução: A integridade do sistema auditivo é essencial para o desenvolvimento das habilidades auditivas e aquisição da linguagem da criança. Considerando a alta prevalência de perda auditiva em recém-nascidos, devido a infecções congênitas que ocorrem durante a gestação, há a necessidade de investigar os efeitos da Covid-19 na audição do RN. Objetivo: Verificar a associação entre perda auditiva em neonatos de gestantes diagnosticadas com COVID-19. Estratégia de Pesquisa: A busca de artigos científicos foi realizada nas bases de dados Medline (Pubmed), LILACS, SciELO, Scopus, Web of Science e Bireme sem restrição de idioma, período e localização. Para complementar e evitar viés de risco foi realizada uma busca por literatura cinzenta no Google Acadêmico. Critérios de Seleção: A revisão sistemática foi conduzida de acordo com as recomendações do Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) e incluiu estudos que pontuaram ≥ 6 pontos de acordo com o protocolo de pontuação qualitativa proposto por Pithon et al. (2015). Análise dos dados: Os artigos elegíveis foram analisados e quantificados seguindo os critérios propostos no presente estudo com juízes cegos nas etapas de recuperação. Resultados: foram recuperados 29 artigos com potencial de inclusão, dos quais 6 responderam à questão norteadora com potencial de elegibilidade. Quatro estudos encontrados não detectaram associação entre infecção materna por COVID-19 e perda auditiva congênita. Conclusão: A infecção por COVID-19 durante a gravidez não parece ser fator de risco para perda auditiva congênita e não foram verificadas alterações auditivas impactantes que comprometessem estes neonatos por infecção vertical. (AU)

Introduction: The integrity of the auditory system is essential for children to develop auditory skills and acquire language. Considering the high prevalence of hearing loss in newborns due to congenital infections that occur during pregnancy, there is a need to investigate the effects of COVID-19 on newborns' hearing. Objective: To verify the association between hearing loss in newborns whose mothers had been diagnosed with COVID-19 during pregnancy. Research Strategy: Scientific articles were searched in the MEDLINE (PubMed), LILACS, SciELO, Scopus, Web of Science, and BIREME databases, without restrictions on the language, time, and place of study. The grey literature was also searched in Google Scholar to complement the sample and avoid risk bias. Selection Criteria: The systematic review followed the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) and included studies that scored ≥ 6 points according to the protocol for qualitative scoring proposed by Pithon et al. (2015). Data analysis: It was performed using a specific form for systematic reviews prepared by two researchers in Excel®. Results: 29 potentially eligible articles were retrieved, six of which answered the research question. Four studies did not detect an association between maternal COVID-19 infection and congenital hearing loss. Conclusion: COVID-19 infection during pregnancy does not seem to be a risk factor for congenital hearing loss and there were no impacting hearing changes due to vertical infection that might affect these newborns. (AU)

Introducción: La integridad del sistema auditivo es fundamental para el desarrollo de las habilidades auditivas y la adquisición del lenguaje de los niños. Considerando la alta prevalencia de hipoacusia (HL) en recién nacidos (RN), debido a infecciones congénitas que ocurren durante el embarazo, surge la necesidad de investigar los efectos del Covid-19 en la audición del recién nacido. Objetivo: Verificar la asociación entre hipoacusia en neonatos de gestantes diagnosticadas con COVID-19. Estrategia de investigación: La búsqueda de artículos científicos se realizó en las bases de datos Medline (Pubmed), LILACS, SciELO, Scopus, Web of Science y Bireme, sin restricción de idioma, período y ubicación. Para complementar y evitar sesgos de riesgo, se realizó una búsqueda de literatura gris en Google Scholar. Criterios de selección: La revisión sistemática se realizó de acuerdo con las recomendaciones de los Elementos de información preferidos para revisiones sistemáticas y metanálisis (PRISMA). Los estudios que obtuvieron una puntuación ≥ 6 puntos según el protocolo de puntuación cualitativa propuesto por Pithon et al. (2015). Análisis de datos: Se realizó mediante un formulario específico para revisión sistemática elaborado por dos investigadores del Programa Excel®. Resultados: se recuperaron 29 artículos con potencial de inclusión, de los cuales 6 respondieron a la pregunta orientadora Cuatro estudios encontrados no detectaron una asociación entre la infección materna por COVID-19 y la pérdida auditiva congénita. Conclusión: La infección por COVID-19 durante el embarazo no parece ser un factor de riesgo para la pérdida auditiva congénita y no hubo cambios auditivos impactantes que pudieran comprometer a estos recién nacidos debido a la infección vertical. (AU)

Colesteatoma congénito: revisión de la literatura / Congenital cholesteatoma: literature review

El colesteatoma congénito es una entidad clínica única y desafiante, que se caracteriza por acumulación anormal de queratina en el oído medio, medial a la membrana timpánica. Se presenta, mayoritariamente, en el género masculino, con una incidencia estimada de 0.12 por 100.000 habitantes, representando el 4% a 24% de los colesteatomas en población pediátrica y un 2% a 5% del total de colesteatomas. Su origen aún es controversial, siendo la teoría más aceptada, la del arresto epitelial. Su diagnóstico es clínico, variando la sintomatología según severidad del compromiso, presentándose desde hallazgo incidental, hipoacusia de conducción, hasta presentar otalgia y perforación timpánica. Las imágenes se consideran un apoyo complementario preoperatorio. El tratamiento es quirúrgico, con diferentes técnicas disponibles, las cuales se deben definir de manera individual en el caso de cada paciente. Es fundamental su diagnóstico y manejo precoz, para lograr un tratamiento oportuno con menor tasa de complicaciones y compromiso a largo plazo. A continuación, se presenta una revisión de la literatura respecto de esta patología, para difusión en nuestro medio.

Congenital cholesteatoma (CC) is a unique and challenging clinical entity characterized by abnormal accumulation of keratin in the middle ear, medial to the tympanic membrane, being more frequent in the male gender, with an estimated incidence of 0.12 per 100,000 inhabitants. It represents 4% to 24% of cholesteatomas in the pediatric population and 2% to 5% of all cholesteatomas. Its cause is still controversial, the most accepted theory being epithelial arrest. The diagnosis is clinical, varying the symptoms according to the severity of the compromise, from incidental finding, through conduction hearing loss, to presenting otalgia and tympanic perforation. Images are considered additional preoperative support. Treatment is predominantly surgical, with different techniques available, which must be defined individually. Its early discovery and management are essential to achieve proper treatment with a lower rate of complications and long-term commitment. We present a review of the literature regarding CC to provide information relevant to our area of expertise.

Colesteatoma congénito: caso clínico y revisión de literatura / Congenital cholesteatoma: clinical case and literature review

El colesteatoma congénito (CC) es una lesión benigna de epitelio escamoso queratinizado que puede afectar diferentes aéreas del hueso temporal con predominio en el oído medio. El CC es una patología poco frecuente que se presenta en pacientes pediátricos y clínicamente se manifiesta como una lesión blanquecina detrás de un tímpano indemne. La mayoría de los pacientes no presenta historia de hipoacusia, otorrea, infección, perforación o cirugía otológica previa. Se analiza el caso de un prescolar con CC que consultó con trastorno de sueño sin sintomatología otológica, pero con otoscopía alterada como hallazgo clínico. En la resonancia magnética nuclear (RMN) con secuencia de difusión, se evidenciaron hallazgos sugerentes de lesión colesteatomatosa en oído medio. Se realizó tratamiento quirúrgico endoscópico combinado con remoción completa de la lesión compatible histológicamente con CC y reconstrucción funcional con prótesis inactiva con resultado auditivo satisfactorio. El CC requiere alta sospecha diagnóstica por pediatras y otorrinolaringólogos, siendo imprescindible realizar un examen físico acucioso que incluya otoscopía de rutina, aunque el paciente no manifieste síntomas otológicos. El tratamiento es quirúrgico y debe considerar uso de endoscópico para asegurar una extracción completa de la lesión. En algunos casos es requerido realizar una reconstrucción auditiva para asegurar un óptimo resultado funcional.

Congenital cholesteatoma (CC) is a benign lesion of keratinized squamous epithelium that can affect different areas of the temporal bone, predominantly in the middle ear. CC is a rare pathology that occurs in pediatric patients and clinically manifests as a white lesion behind an intact eardrum. Most patients do not have a history of hearing loss, otorrhea, infection, perforation, or previous otologic surgery. The following, is the case of an infant with CC who consulted with a sleep disorder without otological symptoms but with altered otoscopy as a clinical finding. Nuclear magnetic resonance (NMR) with diffusion sequence with findings compatible with a cholesteatomatous lesion in the middle ear. Endoscopic surgical treatment was performed combined with complete removal of the lesion histologically compatible with CC and functional reconstruction with inactive prosthesis with satisfactory hearing results. CC requires high diagnostic suspicion by paediatrics and otorhinolaryngologists, and it is essential to perform a thorough physical examination that includes routine otoscopy even if the patient does not show otological symptoms. Treatment is surgical and endoscopic use should be considered to ensure complete removal of the lesion. In some cases, hearing reconstruction is required to ensure optimal functional results.

Congenital Knee Dislocation at Birth - An Extraordinary Case of Spontaneous Reduction / Luxação congênita do joelho no nascimento - Um caso extraordinário de redução espontânea

Abstract Congenital knee dislocation (CKD) is a rare malformation characterized by hyperextension deformity of the knee with anterior tibia displacement, present at birth. Rarely reported, CKD might occur as an isolated deformity or commonly associated with musculoskeletal abnormalities, with the most common ones being developmental dysplasia of the hip (DDH) and clubfoot. The etiology is unknown, but CKD has been associated with certain intrinsic and extrinsic factors. Treatment with conservative methods at an early stage is most likely to yield successful results. We report here a rare case of successful spontaneous reduction of CKD in an infant within 24 hours of life.

Resumo A luxação congênita do joelho (LCJ) é uma malformação rara caracterizada por deformidade de hiperextensão do joelho com deslocamento anterior da tíbia, presente ao nascimento. Raramente relatada, a LCJ pode ocorrer como uma deformidade isolada ou comumente associada a anormalidades musculoesqueléticas, sendo as mais comuns a displasia do desenvolvimento do quadril (DDQ) e o pé torto congênito (PTC). A etiologia é desconhecida, mas a LCJ foi associada a certos fatores intrínsecos e extrínsecos. O tratamento com métodos conservadores em um estágio inicial tem maior probabilidade de produzir resultados bem-sucedidos. Relatamos aqui um caso raro de redução espontânea bem-sucedida de LCJ em um bebê nas suas primeiras 24 horas de vida.

Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad / Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert.

Two children with late-onset congenital central hypoventilation syndrome / 临床耳鼻咽喉头颈外科杂志

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.

Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the coagulation deficit and genetic basis for a Chinese pedigree affected with Congenital dysfibrinogenemia (CD).@*METHODS@#Peripheral venous blood samples of the proband and her family members (including 4 individuals from three generations) were subjected to routine blood test and assays of liver and kidney functions and viral hepatitis to exclude related diseases. Clauss method and DFg-PT method were used to determine the fibrinogen activity (Fg:C), and an immunoturbidimetric assay was used to determine the level of fibrinogen antigen (Fg:Ag). All of the exons (22 in total) and their flanking sequences of the FGA, FGB and FGG genes were amplified by PCR and directly sequenced. Variants in the coding regions of the three genes and transcriptional splicing sites were screened by using Mutation SurveyorTM software.@*RESULTS@#The Clauss method showed that Fg:C was significantly reduced in the proband and her father, whilst her mother and son were normal. With the DFg-PT method, the proband, her parents and son were all within the normal range. The Fg:C/Fg:Ag ratio of the proband and her father was lower than 0.7, whilst her mother and son were above 0.7. No significant change in the prothrombin time, activated partial thromboplastin clotting time and thrombin time was noted. Two genetic variants were detected, which included a homozygous missense variant in the FGA gene [c.991A>G (p.Thr331Ala)], which was predicted to be benign, and a heterozygous missense variant of the γ chain of the FGG gene [c.1211C>G (p.Ser404Phe)], which is located in a conserved region and unreported in the CLINVAR/HGMD/EXAC/1000G databases and literature.@*CONCLUSION@#This pedigree has conformed to the autosomal dominant inheritance of CD. The c.1211C>T (p.Ser404Phe) missense variant of the γ chain of the FGG gene probably underlay the pathogenesis of CD in this pedigree. The variant was unreported previously and named as "Fibrinogen Harbin II Ser404Phe".

Narrativas de mães de crianças cegas congênitas sobre itinerários terapêuticos, arranjos de cuidados e experiências maternas: uma pesquisa no Instituto Benjamin Constant / Narratives of mothers of congenitally blind children on therapeutic pathways, care arrangements and maternal experiences: a study at the Benjamin Constant Institute

O objetivo da tese é analisar as narrativas de oito mães de crianças cegas congênitas, matriculadas no Instituto Benjamin Constant. O estudo abrange itinerários terapêuticos, arranjos de cuidados e experiências maternas. Utilizaram-se os postulados teóricos sobre narrativas de Ricoeur e a análise foi feita sob o marco teórico de Bardin. Optou-se pelo itinerário terapêutico como método de pesquisa, por valorizar as histórias de vidas das mães que participaram da pesquisa. A narrativa reforçou a utilização de metodologias participativas e inclusivas, baseadas no respeito, na solidariedade e na cooperação. As narrativas mostraram que as mães, após o primeiro itinerário, que é na maternidade, encontram na figura do médico pediatra o auxílio que as orienta sobre quais os itinerários a percorrer. Em seguida, elas procuram o oftalmologista, mais especificamente o retinólogo e, também, o neuropediatra. A chegada ao IBC acontece depois da confirmação derradeira da cegueira do filho. As mães das crianças e adolescentes matriculados no IBC permanecem no espaço do Instituto, diariamente, enquanto seus filhos estão em aula ou em algum atendimento. Essa permanência se justifica por razão da distância entre o IBC e suas casas. A espera permite compartilharem, com outras mães, situações vivenciadas para o fortalecimento de vínculos de afetos, mas também existem tensões. O estudo apontou, ainda, que o discurso iatrogênico, com palavras ou ações de alguns médicos, causou ansiedade, desconfiança, confusão e sentimento de desrespeito. Outro dado relevante, encontrado por meio das narrativas, foi a dificuldade que encontraram ao transitarem nos espaços públicos com seus filhos, por causa de barreiras atitudinais. Ainda segundo as narrativas, o cuidado que elas dispensam quase que integralmente aos seus filhos (as), apesar de toda a sobrecarga que relatam, não é considerado um trabalho, pelo fato de não ser remunerado. As mães entendem que a tarefa de cuidar é um ato de amor para com o filho e, não, um trabalho. Por fim, a pesquisa também investigou os impactos que a pandemia de COVID 19 ocasionou nas vidas das mães e de seus filhos, surgindo como principais desafios o afastamento do espaço da escola e o manejo das aulas on-line. (AU)

The objective of the thesis is to study the narratives of eight mothers of congenitally blind children enrolled at the Benjamin Constant Institute. The study covers therapeutic journeys, care arrangements, and maternal experiences. Theoretical postulates on narratives by Ricoeur were utilized, and the analysis was conducted within the theoretical framework of Bardin. The therapeutic journey was chosen as the research method, as it values the life stories of the participating mothers. The narrative reinforced the use of participatory and inclusive methodologies based on respect, solidarity, and cooperation. The narratives showed that mothers, after the initial journey in maternity, seek guidance from pediatricians on the paths to take. They then consult ophthalmologists, specifically retinologists, and neuropediatricians. Arrival at the IBC occurs after the final confirmation of the child's blindness. Mothers of children and adolescents enrolled at the IBC stay at the Institute daily while their children are in class or receiving some form of assistance. This stay is due to the distance between the IBC and their homes. Waiting allows them to share experiences with other mothers, strengthening emotional bonds, but tensions also exist. The study also pointed out that iatrogenic discourse, with words or actions from some doctors, caused anxiety, mistrust, confusion, and feelings of disrespect. Another significant finding from the narratives was the difficulty they encountered when navigating public spaces with their children due to attitudinal barriers. According to the narratives, the care they provide to their children, despite the reported burden, is not considered work because it is unpaid. Mothers view caregiving as an act of love for their children, not as a job. Finally, the research also investigated the impacts of the COVID-19 pandemic on the lives of the mothers and their children, with the main challenges being the separation from the school environment and the management of online classes. (AU)

Evaluación de la competencia pragmática de cuatro adultos españoles con discapacidad auditiva congénita a través del Protocolo Rápido de Evaluación Pragmática - Revisado / Assessing the pragmatic competence of four spanish adults with congenital hearing loss through Protocolo Rápido de Evaluación Pragmática - Revisado

Numerosos estudios apuntan a las dificultades del lenguaje oral que pueden presentar las personas con discapacidad auditiva a lo largo de su desarrollo. No obstante, se conoce poco acerca del nivel de competencia pragmática que alcanzan y cómo esta área se desarrolla. En esta investigación se pretenden abordar las características pragmáticas de cuatro adultos españoles con discapacidad auditiva congénita a través del Protocolo Rápido de Evaluación Pragmática Revisado (PREP-R), que evalúa diferentes niveles de pragmática: textual, enunciativa e interactiva y, además,aporta un índice de habilidad pragmática general, específica y de base gramatical. Los participantes fueron evaluados mediante videograbaciones de muestras de lenguaje espontáneo en conversación con un familiar. Los resultados indican que, en general, los cuatro sujetos presentan un buen nivel de competencia pragmática, que se manifiesta a la hora de ajustar los actos de habla. Sin embargo, para regular su lenguaje, tienden a utilizar conductas compensatorias como: estrategias verbales que les permiten ganar tiempo extra para la construcción de sus emisiones, empleo de actos verbales y/o paraverbales compensatorios y el uso de gestos que completan su producción verbal. Estos datos indican que, aunque los participantes de este estudio presentan buenas habilidades pragmáticas, es necesario seguir desarrollando estrategias a nivel de intervención que les permitan comunicarse sin dificultades en diferentes contextos y con distintos interlocutores.

Numerous studies reveal the oral language difficulties that people with hearing loss may present throughout their development. However, little is known about the level of pragmatic competence they achieve and how this area evolves. This research aims to address the pragmatic characteristics of four Spanish adults with congenital hearing loss through Protocolo Rápido de Evaluación Pragmática -Revisado (PREP-R, which can be translated as Quick Protocol for Pragmatic Evaluation -Revised). This test assesses different levels of pragmatics: textual, enunciative, and interactional, and also provides an indicator for general, specific, and grammatically-based pragmatic ability. The participants were assessed by videotaping spontaneous speech samples in conversation with a family member. The results indicate that, in general, the four subjects present an adequate level of pragmatic competence, which is manifested in their adjustment of speech acts. Nevertheless, they show a tendency to use compensatory behaviors toregulate their speech, such as verbal strategies that allow them to gain extra time to construct their utterances, compensatory verbal and/or paraverbal acts, and gestures that complement their verbal productions. These data indicate that, although the participants of this study show good pragmatic skills, it is necessary to continue developing intervention strategies that allow them to communicate without difficulties in different contexts and with different communication partners.

Bibliometría y mapeo de redes de la producción científica internacional de Cuba sobre ataxias (1993-2020) / Bibliometrics and network mapping of Cuban international scientific production on ataxias (1993-2020)

El objetivo del estudio fue caracterizar el potencial investigador cubano en el ámbito de las ataxias y su evolución temporal. Se realizó una búsqueda en la base de datos Web of Science y se obtuvieron todos los documentos publicados entre 1993 y 2020. Se aplicaron indicadores bibliométricos para explorar la producción, dispersión, distribución y crecimiento anual de los documentos (ley de Price, ley de Lotka, índice de transitoriedad y modelo de Bradford). Se calculó el índice de participación y colaboración de países e instituciones y, por cartografía bibliométrica, se exploraron las redes de coocurrencia de los términos más utilizados. La producción científica de Cuba sobre ataxias hereditarias es alta (219 documentos) y se ajusta a un crecimiento lineal (r= 0,7580). El período estudiado concentra el 47,95 por ciento de los registros con un ritmo anual de publicaciones del 6,6 por ciento y tiempo de duplicidad de 10,8 años. El total de citas fue de 3807 (índice medio: 131,27; índice -h: 31). Se concluye que el crecimiento de la literatura científica cubana sobre ataxias fue lineal para el período estudiado, lo que confirma el incumplimiento de la ley de Price de crecimiento de la literatura científica. El estudio también corrobora la importante red de integración y cooperación internacional entre los diferentes autores y la interdisciplinariedad de los trabajos, evidencia del éxito del Centro para la Investigación y Rehabilitación de las Ataxias Hereditarias (CIRAH), al planificar una estrategia de colaboración científica con objetivos definidos(AU)

The objective of this study was to characterize the Cuban research potential in the field of ataxias and its temporal evolution. A search was carried out in the Web of Science database and all the documents published from 1993 to 2020 were retrieved. Bibliometric indicators were applied to explore the production, dispersion, distribution and annual growth of the documents (Price's law, Lotka's law, transience index and Bradford model). The participation and collaboration index of countries and institutions was calculated and, through bibliometric cartography, the co-occurrence networks of the most used terms were explored. The Cuban scientific production on hereditary ataxias is high (219 documents) and it adjusts to a linear growth (r = 0.7580). The period studied concentrates 47.95percent of the records with an annual publication rate of 6.6percent and 10.8 years' duplication time. The total number of citations was 3807 (mean index: 131.27; h-index: 31). Growth of the Cuban scientific literature on ataxias was concluded to be linear for the period studied, which confirms the non-compliance with Price's law of growth of scientific literature. The study also corroborates the important network of integration and international cooperation among the different authors and the interdisciplinarity of the papers, marking the success of the Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH), when planning a strategy of scientific collaboration with objectives defined(AU)

Catarata bilateral congénita en recién nacido con síndrome de Down / Congenital bilateral cataract in a newborn with Down syndrome / Catarata congênita bilateral em recém-nascido com síndrome de Down

Las cataratas son una causa importante de discapacidad visual en la población pediátrica en todo el mundo y pueden afectar significativamente el neurodesarrollo de un niño. Constituyen un problema fundamental en cuanto a su manejo y una de las causas más relevantes de ceguera tratable en los países desarrollados y en vías de desarrollo. La trisomía 21 es la cromosomopatía más frecuente, de características fenotípicas determinadas con un 60% de anormalidades oculares, entre las que se destacan las ametropías, queratocono y las cataratas. El diagnóstico clínico y la identificación temprana del tipo de cataratas, junto con intervenciones clínicas y tratamientos precoces, son claves para lograr resultados óptimos. Se presenta el caso de un recién nacido con síndrome de Down y catarata congénita bilateral y su manejo inicial.

Cataracts are a major cause of visual impairment in the pediatric population worldwide and can significantly affect a child's neurobiological development. Congenital cataract management can become a very important problem and is one of the most important causes of blindness in developed and developing countries. Trisomy 21 is the most common chromosomal disease and it has certain phenotypic characteristics and 60% ophthalmic abnormalities, such as, ametropia, keratoconus and cataracts. The diagnosis is fundamentally clinical. Early identification, diagnosis, and appropriate clinical care are key to achieve optimal results. We present the case of a newborn with Down syndrome who was diagnosed with an early bilateral congenital cataract.

A catarata é uma das principais causas de deficiência visual na população pediátrica no mundo e pode afetar significativamente o neurodesenvolvimento de uma criança, além de constituir um problema fundamental em termos de sua gestão e é uma das causas mais relevantes de cegueira tratável em países desenvolvidos e em desenvolvimento. Trissomia 21 é a cromossomopatia mais frequente e tem determinadas características fenotípicas com 60% de alterações oculares, como a ametropia, ceratocone e catarata. O diagnóstico clínico e a identificação precoce do tipo de catarata, juntamente com intervenções clínicas e tratamento precoces, são fundamentais para alcançar os melhores resultados. Apresentamos o caso de um recém-nascido com síndrome de Down e catarata congênita bilateral e seu manejo inicial.

Síndrome De Herlyn ­ Werner ­ Wünderlich. A proposito de un caso / Herlyn ­ Werner ­ Wünderlich Syndrome. About a case

Presentamos el caso de una paciente de 11 años que presento un cuadro clínico de oligomenorrea, leucorrea y dolor pélvico tipo cólico. Se ha pensado por el dolor abdominal en la posibilidad de apendicitis modificada por lo que se realizó ecografía pélvica con los hallazgos de útero didelfo, quiste anexial derecho y agenesia renal izquierda, datos compatibles con síndrome de Herlyn ­ Werner ­ Wünderlich

We present the case of an 11-year-old patient who presented a clinical picture of oligomenorrhea, leucorrhoea and pelvic pain type colic. It has been thought for abdominal pain in the possibility of modified appendicitis so pelvic ultrasound was performed with the findings of didelphic uterus, right adnexal cyst and left renal agenesis, data compatible with Herlyn ­ Werner ­ Wünderlich syndrome.

O papel da ultrassonografia na doença trofoblástica gestacional / The role of ultrasonography in gestational trophoblastic disease

A doença trofoblástica gestacional (DTG) agrupa um conjunto de anomalias do desenvolvimento trofoblástico, que incluem formas clínicas benignas como a mola hidatiforme completa e parcial, o nódulo do sítio placentário atípico e o sítio trofoblástico exagerado, e malignas, caracterizando a neoplasia trofoblástica gestacional (NTG). De modo geral, seu diagnóstico precoce antecipa complicações clínicas que podem estar associadas a near miss obstétrico. Diante da suspeição clínica, é a ultrassonografia (US) precoce o exame de escolha pa ra o diagnóstico, associado à dosagem sérica de gonadotrofina coriônica humana, capaz de minimizar a ocorrência de complicações clínicas associadas à gravidez molar. Nos casos de NTG, é a US também de grande valia para estadiamento, avaliação de prognóstico e acompanhamento da mulher tratada para DTG. Este estudo faz uma revisão sobre o papel da US na DTG, sendo importante para familiarizar os tocoginecologistas com essa doença e salientar o papel da US consoante as melhores práticas clínicas.(AU)

Gestational trophoblastic disease (GTD) includes a set of trophoblastic developmental anomalies, which include benign forms such as complete and partial hydatidiform mole, atypical placental site nodule and exaggerated trophoblastic site, and malignant forms, characterizing gestational trophoblastic neoplasia (GTN). In general, its early diagnosis anticipates clinical complications that could be associated with obstetric near miss. In view of clinical suspicion, early ultrasonography (US) and serum levels of human chorionic gonadotropin are the best diagnostic screening techniques, able to minimizing the occurrence of medical complications associated with molar pregnancy. In cases of GTN, US is also of great value for staging, assessment of prognosis and follow-up of women treated for GTN. This study reviews the role of US in GTD, being important to familiarize tocogynecologists with this disease and highlight the role of US according to best clinical practices to minimize the morbidity of these patients and maximize the remission rates of this disease.(AU)

Neutropenia congénita de tipo IV: reporte de un caso / Congenital neutropenia type IV: case report

La neutropenia congénita grave (NCG) es una entidad heterogénea cuya característica común es un recuento absoluto de neutrófilos inferior a 0,5 x 10 9/l. Presenta gran heterogeneidad genética, las mutaciones más frecuentes son las del gen de la elastasa 2 (ELA 2). El tratamiento de primera elección es la administración de factor estimulador de colonias de granulocitos. Los pacientes con NCG presentan infecciones graves en etapas tempranas de la vida. Se presenta una paciente con NCG asociada a fenotipo peculiar con facies triangular, retromicrognatia, patrón venoso prominente en miembros inferiores, comunicación interauricular y mal progreso ponderal, en quien se diagnosticó déficit de la enzima glucosa 6 fosfato deshidrogenasa, subunidad catalítica 3 (G6PC3). A pesar de lo infrecuente de esta mutación como causa de NCG (2 %), su conocimiento cobra importancia porque la coexistencia del fenotipo característico con una NCG orienta en la solicitud del estudio genético que permite arribar al diagnóstico.

Severe congenital neutropenia (SCN) is a heterogeneous disease whose more common feature is an absolute neutrophil count less than 0.5 x 10 9/l. It presents great genetic heterogeneity. Autosomal dominant inherited mutations of the elastase 2 gene (ELA2) represent the most common etiology. The first choice treatment is the administration of granulocyte colony stimulating factor. Patients with SCN develop severe infections early in life. We present a patient who associated SCN to a peculiar phenotype, characterized by triangular facies, retromicrognathia, prominent venous pattern in the lower limbs, atrial septal defect and poor weight progress, in whom a deficiency of the enzyme glucose 6 phosphate dehydrogenase, a catalytic subunit 3 (G6PC3), was diagnosed. Despite the infrequency of this mutation as the origin of SCN (2%), its knowledge becomes important because the coexistence of the characteristic phenotype and SCN guides the request for the genetic study that allows reaching the diagnosis.