Hemophagocytic lymphohistiocytosis and macrophage activation syndrome: two rare sides of the same devastating coin

Abstract Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes of secondary HLH, such as infections and malignancy. In this article, we reviewed the concepts, epidemiology, clinical and laboratory features, diagnosis, differential diagnosis, prognosis, and treatment of HLH and MAS. We also reviewed the presence of MAS in the most common autoimmune diseases that affect children. Both are severe diseases that require prompt diagnosis and treatment to avoid morbidity and mortality.

Idiopathic uveitis presents different characteristics and outcome from juvenile idiopathic arthritis- related uveitis / Uveíte idiopática apresenta características e desfecho diferentes da uveíte associada à Artrite Idiopática Juvenil

ABSTRACT Objective: To describe the clinical features and outcomes of patients with uveitis associated with juvenile idiopathic arthritis (JIA) and idiopathic uveitis. Methods: This was an observational, retrospective study, conducted in a tertiary center. Patients under 18 years old who experienced at least one episode of uveitis and followed between 2000 and 2019 were included. Results: A total of 82 patients were included, of whom 43 had idiopathic uveitis and 39 had uveitis associated with JIA. Anterior uveitis was the primary site of ocular inflammation (76.8%) and occurred in 24 and 39 patients with idiopathic uveitis and uveitis associated with JIA arthritis, respectively (p=0.02). The complete response to corticotherapy was more frequent in uveitis associated with JIA (p=0.001). Total and partial responses to biological disease modifying antirheumatic drugs were more frequent in uveitis associated with JIA (p=0.025) and idiopathic uveitis (p=0.045), respectively. There were 203 complications: cataracts were more frequently present in idiopathic uveitis (p=0.05), while synechiae was more frequent in uveitis associated with JIA (p=0.02). Conclusion: Idiopathic uveitis and uveitis associated JIA frequently follow a chronic course and an increased risk of visual loss in childhood. The uveitis associated with JIA showed better response to systemic corticotherapy and total response to biologic disease modifying antirheumatic drugs more frequently.

RESUMO Objetivos: Descrever as características clínicas e desfechos dos pacientes com uveíte associada à Artrite Idiopática Juvenil (AIJ) e da Uveíte Idiopática. Métodos: Este foi um estudo retrospectivo observacional conduzido em um centro terciário. Foram incluídos pacientes abaixo dos 18 anos de idade que apresentaram pelo menos um episódio de uveíte e que estiveram em acompanhamento médico entre os anos de 2000 e 2019. Resultados: Foram incluídos 82 pacientes, sendo 43 com uveíte idiopática e 39 com uveíte associada à AIJ. A uveíte anterior foi o sítio primário de acometimento (76,8%) em 24 e 39 pacientes com uveíte idiopática e uveíte associada à AIJ, respectivamente (p=0.02). Resposta total à corticoterapia foi mais frequente na uveíte associada à AIJ (p=0.001). Respostas total e parcial às drogas antirreumáticas modificadoras de doença biológicas foram mais frequentes na uveíte associada à AIJ (p=0.025) e na uveíte idiopática (p=0.045), respectivamente. Foram encontradas 203 complicações: a catarata foi mais frequente na uveíte idiopática (p=0.05), enquanto a sinéquia foi mais frequente na uveíte associada à AIJ (p=0.02). Conclusão: A uveíte idiopática e a uveíte associada à AIJ frequentemente apresentam um curso crônico e um risco elevado de perda visual na infância. A uveíte associada à AIJ apresentou melhor resposta à corticoterapia sistêmica e resposta total às drogas modificadoras de doença reumática biológicas mais frequentemente.

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

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

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

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

Modified Xiaoyaosan Alleviates Depression-like Behaviors by Regulating Activation of Hippocampal Microglia Cells in Rat Model of Juvenile Depression / 中国实验方剂学杂志

ObjectiveTo investigate the mechanism of Baihuan Xiaoyao Decoction （Xiaoyaosan added with Lilii Bulbus and Albiziae Cortex） in alleviating depression-like behaviors of juvenile rats by regulating the polarization of microglia. MethodSixty juvenile SD rats were randomized into normal control， model， fluoxetine， and low-， medium-， and high-dose （5.36， 10.71， 21.42 g·kg-1， respectively） Baihuan Xiaoyao decoction groups. The rat model of juvenile depression was established by chronic unpredictable mild stress （CUMS）. The sucrose preference test （SPT） was carried out to examine the sucrose preference of rats. Forced swimming test （FST） was carried out to measure the immobility time of rats. The open field test （OFT） was conducted to measure the total distance， the central distance， the number of horizontal crossings， and the frequency of rearing. Morris water maze （MWM） was used to measure the escape latency and the number of crossing the platform. The immunofluorescence assay was employed to detect the expression of inducible nitric oxide synthase （iNOS， the polarization marker of M1 microglia） and CD206 （the polarization marker of M2 microglia）. Real-time polymerase chain reaction was employed to determine the mRNA levels of iNOS， CD206， pro-inflammatory cytokines ［tumor necrosis factor （TNF）-α， interleukin （IL）-1β， and IL-6］ and anti-inflammatory cytokines （IL-4 and IL-10） in the hippocampus. Western blotting was employed to determine the protein levels of iNOS and CD206 in the hippocampus. The levels of IL-4 and IL-6 in the hippocampus were detected by enzyme-linked immunosorbent assay. ResultCompared with the normal control group， the model rats showed a reduction in sucrose preference （P<0.05）， an increase in immobility time （P<0.05）， decreased motor and exploratory behaviors （P<0.05）， and weakened learning and spatial memory （P<0.05）. In addition， the model rats showed up-regulated mRNA and protein levels of iNOS and mRNA levels of IL-1β， IL-6， and TNF-α （P<0.05）. Compared with the model group， Baihuan Xiaoyao decoction increased the sucrose preference value （P<0.05）， shortened the immobility time （P<0.01）， increased the motor and exploratory behaviors （P<0.05）， and improved the learning and spatial memory （P<0.01）. Furthermore， the decoction down-regulated the positive expression and protein level of iNOS， lowered the levels of TNF-α， IL-1β， and IL-6 （P<0.01）， promoted the positive expression of CD206， and elevated the levels of IL-4 and IL-10 （P<0.01） in the hippocampus of the high dose group. Moreover， the high-dose Baihuan Xiaoyao decoction group had higher sucrose preference value （P<0.01）， shorter immobility time （P<0.01）， longer central distance （P<0.01）， stronger learning and spatial memory （P<0.01）， higher positive expression and protein level of iNOS （P<0.01）， lower levels of TNF-α， IL-1β， and IL-6 （P<0.05， P<0.01）， lower positive expression and mRNA level of iNOS （P<0.05）， and higher levels of IL-4 and IL-10 （P<0.05， P<0.01） than the fluoxetine group. ConclusionBaihuan Xiaoyao decoction can improve the depression-like behavior of juvenile rats by inhibiting the M1 polarization and promoting the M2 polarization of microglia in the hippocampus.

Los desencadenantes reflejos en la epilepsia mioclónica juvenil / Reflex triggers in juvenile myoclonic epilepsy

Resumen Introducción : La epilepsia mioclónica juvenil (EMJ) es un síndrome epiléptico de inicio en la infancia y ado lescencia con mioclonías, convulsiones tónico-clónicas generalizadas y ausencias. Los estímulos reflejos como la sensibilidad a la luz o fotosensibilidad, la apertura y cierre palpebral y la inducción por praxias producen descargas epileptiformes y crisis. Estos desencadenan tes reflejos no son todos sistemáticamente estudiados. Objetivo : Examinar los rasgos reflejos en pacientes con EMJ. Métodos : Se evaluaron en forma consecutiva 100 adolescentes y adultos con EMJ que recibían diferentes tratamientos anticrisis. Se realizó un electroencefalogra ma standard con un protocolo de estimulación luminosa intermitente (ELI) y otro para la evaluación de las pra xias a través de una actividad neurocognitiva (ANC). El análisis estadístico fue descriptivo y de correlación. Se consideró significativa una p > 0.05. Resultados : La edad actual fue de 28+/-11 (14-67). Las crisis comenzaron a los 15 años +/-3 (Rango 8-25 años). EL 58% presentaron mioclonías y convulsiones tónico clónicas generalizadas. El 50% recibían ácido valproico y el 31% continuaban con crisis. Descargas epileptiformes en reposo 20%; hiperventilación 30%; apertura y cierre palpebral 12%; respuesta fotoparoxística en la ELI 40%; ANC 23%. Mayor porcentaje de descargas y demora en la realización de la ANC en los que presentaban crisis. El ácido valproico comparado con los otros fármacos no demostró superioridad en el control de las crisis. Conclusiones : Estos hallazgos confirman la importan cia del estudio de los rasgos reflejos para el diagnóstico, seguimiento y el control terapéutico.

Abstract Introduction : Juvenile myoclonic epilepsy (JME) is an epileptic syndrome with onset in childhood and adolescence with myoclonus, absences, and generalized tonic-clonic seizures. Reflex stimuli such as sensitivity to light or photosensitivity, eyelid opening and closing, and praxis induction produce epileptiform discharges and seizures. These reflex triggers are not all system atically studied. Objective : Examine reflex features in patients with JME. Methods : One hundred adolescents and adults with JME who received different anti-seizure treatments were evaluated consecutively. A standard electroen cephalogram was performed with an intermittent light stimulation (SLI) protocol and another for the evaluation of praxias through neurocognitive activity (CNA). The statistical analysis was descriptive and of correlation with a p > 0.05. Results : Current age was 28+/-11 (14-67). The seizure began at 15 years +/-3 (Range 8-25 years). They pre sented myoclonus and generalized tonic-clonic seizures in 58%. 50% received valproic acid and 31% continued with seizures. Epileptiform discharges at rest 20%; hy perventilation 30%; eyelid opening and closing 12%; photoparoxysmal response in SLI 40%; CNA 23%. Higher percentage of discharges and delay in performing CNA in those who presented seizures. Valproic acid com pared to other drugs did not demonstrate superiority in seizure control. Conclusions : These findings confirm the importance of studying reflex traits for diagnosis, follow-up, and therapeutic control.

Hipertensión arterial pulmonar en pacientes con dermatomiositis juvenil y esclerosis sistémica en un centro pediátrico de tercer nivel

INTRODUCCIÓN: La hipertensión arterial pulmonar puede estar asociada secundariamente a enfermedades del tejido conectivo. Entre estas enfermedades, predominan la esclerosis sistémica y la dermatomiositis juvenil. MATERIALES Y MÉTODOS: Se realizó un estudio retrospectivo, descriptivo y transversal. Se incluyeron todos los pacientes con diagnóstico de dermatomiositis juvenil y esclerosis sistémica que acudieron a nuestro hospital. Posteriormente se verificaron los niveles de presión arterial pulmonar mediante ecocardiografía. RESULTADOS: Se incluyeron 58 pacientes, de los cuales sólo 17 pacientes tuvieron ecocardiografía diagnóstica. Entre ellos, dos pacientes presentaron hipertensión arterial pulmonar. CONCLUSIÓN: La detección oportuna de la hipertensión arterial pulmonar en las enfermedades del tejido conectivo es esencial. Generalmente es asintomático. Es necesario adherirse al protocolo internacional que sugiere realizar ecocardiografía en todos los pacientes con dermatomiositis juvenil y esclerosis sistémica.

INTRODUCTION: Pulmonary arterial hypertension may be secondary associated with connective tissue diseases. Among these diseases, systemic sclerosis and juvenile dermatomyositis predominate. MATERIALS AND METHODS: A retrospective, descriptive and cross-sectional study was carried out. All patients with a diagnosis of juvenile dermatomyositis and systemic sclerosis who attended our hospital were included. Pulmonary arterial pressure levels were subsequently verified by echocardiography. RESULTS: 58 patients were included, of which only 17 patients had a diagnostic echocardiography. Among them, two patients presented pulmonary arterial hypertension. CONCLUSION: Timely detection of pulmonary arterial hypertension in connective tissue diseases is essential. It is generally asymptomatic. It is necessary to adhere to the international protocol that suggests performing echocardiography in all patients with juvenile dermatomyositis and systemic sclerosis.

Padrões de conduta antissocial e socialização em jovens escolares do sexo feminino / Patterns of antisocial behavior and socialization in young female school teenagers

A taxa de condutas delituosas oficiais praticadas por meninas jovens tem aumentado nos últimos anos. Embora a literatura sugira um viés de gênero nesse fenômeno, ainda predominam estudos voltados ao sexo masculino. O presente estudo teve como objetivo verificar associações entre os aspectos de personalidade do fator Socialização, compatível com traços do Modelo dos Cinco Grandes Fatores, e condutas antissociais (delituosas e divergentes) em jovens escolares do sexo feminino. Uma amostra de 549 jovens respondeu ao Questionário de Comportamentos Juvenis (QCJ) e à Escala Fatorial de Socialização (EFS). A partir das pontuações obtidas na EFS, os dados da amostra foram agrupados, havendo formação de três clusters, com diferentes níveis de engajamento em condutas antissociais. Maior frequência e diversidade de condutas antissociais estiveram associadas a menores níveis de Amabilidade, Pró-Sociabilidade e Confiança nas Pessoas, sugerindo relação entre os aspectos de personalidade e as condutas antissociais avaliadas. São discutidas também possíveis implicações de outros fatores nessa relação.

The rate of official misconduct cases involving young girls have increased in recent years. Although the literature suggests a gender gap in this phenomenon, studies focusing on males still predominate. The present study had as objective verifying the relation between personality aspects of the Socialization factor, compatible with the characteristics of the Big Five Factors Model, and the commitment of antisocial behaviors (criminal and divergent) by young female students. To this end, a sample of 549 adolescents answered the Questionário de Comportamentos Juvenis (QCJ) and the Escala Fatorial de Socialização (EFS). Based on the results obtained in the EFS, the sample was divided into three clusters. Greater frequency and diversity of antisocial behaviors were associated with lower levels of Agreeableness, Pro-Sociability and Trust in People, suggesting a relationship between personality aspects and the antisocial behaviors evaluated. Possible implications of other factors in this relationship are also discussed.

Timectomía toracoscópica en pacientes con Miastenia Gravis juvenil

Objetivo: Describir la evolución clínica postquirúrgica de una serie de casos de pacientes con Miastenia Gravis juvenil (MGJ) tratados con timectomía por toraoscópica videoasistida (TVA) derecha. Materiales y Métodos: Estudio retrospectivo que incluyó 13 pacientes pediátricos con diagnóstico de MGJ sometidos a timectomía toracoscópica derecha en la Unidad Médica de Alta Especialidad Hospital de Pediatría, Centro Médico Nacional Siglo XXI de México, entre marzo de 2016 y abril de 2022. Los pacientes fueron caracterizados clínicamente y la enfermedad fue clasificada de acuerdo a los criterios de Osserman. La evolución postquirúrgica se evaluó con la clasificación de DeFilippi para determinar la proporción de pacientes con mejoría y la remisión completa. Resultados: Los pacientes incluidos fueron, en su mayoría, mujeres (84,6%) con edad promedio al diagnóstico fue de 11,1 ± 3,1 años. Las cuatro clasificaciones de MG fueron incluidas, con mayor proporción de MG generalizada leve (38,5%), seguida de ocular (23,1%) y generalizada moderada grave (23,1%). La evaluación de la progresión postquirúrgica demostró que a los tres meses de seguimiento 92,3% presentó mejorías, incluyendo la disminución del uso de medicamentos. La remisión total solo se registró en uno de los pacientes. Los pacientes que tuvieron cirugía antes de los 12 meses de evolución de la MGJ presentaron mejores resultados post timectomía por TVA. Conclusión: Se demostró la utilidad de timectomía por TVA en pacientes pediátricos mexicanos con MGJ. Nuestra experiencia agrega evidencia de que los pacientes pediátricos se benefician de la timectomía, mejorando su estado clínico y disminuyendo el uso de medicamentos y complicaciones e la enfermedad.

Objective: To describe the post-surgical clinical evolution of a case series of patients with juvenile myasthenia gravis (JMG) treated with right video-assisted thoracoscopic (TVA) thymectomy. Materials and Methods: Retrospective study that included 13 pediatric patients with JMG who underwent right TVA thymectomy at the Siglo XXI National Medical Center of Mexico between March 2016 and April 2022. Patients were clinically characterized, and the disease was classified according to Osserman's criteria. Post-surgical evolution was evaluated using the DeFilippi classification to determine the proportion of patients with improvement and complete remission. Results: The included patients were mostly women (84.6%) with a mean age at diagnosis of 11.1 ± 3.1 years. The four MG classifications were included, with the highest proportion of mild generalized MG (38.5%), followed by ocular (23.1%) and moderate-severe generalized (23.1%). The evaluation of post-surgical progression showed that after three months of follow-up, 92.3% presented improvements, including a decrease in the use of medications. Complete remission was only recorded in one of the patients. Patients who underwent surgery before 12 months of evolution of JMG had better results after TVA thymectomy. Conclusion: The usefulness of TVA thymectomy in Mexican pediatric patients with JMG was demonstrated. Our experience adds evidence that pediatric patients benefit from thymectomy by improving their clinical status and decreasing the use of medications and complications of the disease.

Presentación clínica de patologías no malignas que simulan leucemia cutis: a propósito de dos casos / Clinical presentation of non-malignant diseases mimicking leukemia cutis: A report of two cases

La infiltración cutánea por células leucémicas conocida como leucemia cutis es una presentación infrecuente de esta patología y constituye un desafío diagnóstico. Los diagnósticos como infecciones, otras patologías neoplásicas con afectación cutánea y los trastornos histiocíticos, entre otros, constituyen los principales diagnósticos diferenciales, ya que configuran un escenario pronóstico y terapéutico diferente. Se presentan dos pacientes que fueron diagnosticados inicialmente como leucemia cutis, cuyo diagnóstico final fue de patologías no malignas.

The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.

Criminology and identity: A theoretical review / Criminología e identidad: una revisión teórica / Criminologia e identidade: uma revisão teórica

This article is a literature review describing and analysing the main theoretical and empirical developments that have addressed the concept of identity and its role in crime based on criminology and other disciplines. The literature review was based on a search both in Spanish and English in the Web of Knowledge, Scopus, and Scielo databases. The exposition of theoretical proposals follows a chronological and disciplinary field order, including identity perspective, the sociology of deviance, developmental criminology, and several of the leading contemporary approaches. It highlights the dissemination and importance of identity perspective between the 1950s and 1970s and the subsequent criticism that it was reductionist, lacking theoretical support, and not in dialogue with other criminological proposals. Thereupon, emphasis is placed on the subsequent contributions and proposals, which demonstrate the consistency of the concept, as well as its versatility and articulation with different disciplinary approaches to the understanding of the criminal phenomenon. The conclusion highlights the richness of the concept, its projections, and the importance of its revitalisation.

Este artículo es una revisión bibliográfica en la que se describen y analizan los principales desarrollos tanto teóricos como empíricos que han abordado el concepto de identidad y su rol asociado a la delincuencia, desde la criminología y otras disciplinas. La revisión bibliográfica se basó en una búsqueda en español e inglés en las bases de datos Web of Knowledge, Scopus y Scielo. La exposición de propuestas teóricas sigue un orden cronológico y de campo disciplinar, incluyendo la perspectiva de la identidad, la sociología de la desviación, la criminología del desarrollo y algunos de los principales planteamientos contemporáneos. Se destaca la difusión e importancia que tuvo la perspectiva de la identidad entre los años cincuenta y setenta, y la posterior crítica que la señaló como reduccionista, carente de sustento teórico y poco dialogante con otras propuestas criminológicas. Luego se enfatiza en las contribuciones y propuestas posteriores, las que dan cuenta de la consistencia del concepto, así como de su versatilidad y articulación con distintas aproximaciones disciplinares abocadas a la comprensión del fenómeno delictivo. Se concluye destacando la riqueza del concepto, sus proyecciones y la importancia de su revitalización.

Este artigo é uma revisão bibliográfica que descreve e analisa os principais desenvolvimentos teóricos e empíricos que abordaram o conceito de identidade e seu papel associado ao crime, a partir da criminologia e de outras disciplinas. A revisão bibliográfica baseou-se em uma busca em espanhol e inglês nas bases de dados Web of Knowledge, Scopus e Scielo. A apresentação das propostas teóricas segue uma ordem cronológica e disciplinar de campo, incluindo a perspectiva identitária, a sociologia do desvio, a criminologia do desenvolvimento e algumas das principais abordagens contemporâneas. Destaca-se a difusão e importância que a perspectiva identitária teve entre as décadas de 1950 e 1970. E as críticas posteriores que a apontaram como reducionista, carente de respaldo teórico e pouco diálogo com outras propostas criminológicas. Em seguida, destacam-se as contribuições e propostas subsequentes, que dão conta da consistência do conceito, bem como da sua versatilidade e articulação com diferentes abordagens disciplinares destinadas à compreensão do fenómeno criminal. Conclui-se destacando a riqueza do conceito, suas projeções e a importância de sua revitalização.

Diferencias de género en la agresividad en jóvenes infractores en Medellín, Colombia / Gender differences in aggressiveness between juvenile offenders in Colombia

(analítico) La investigación sobre agresividad en jóvenes delincuentes es insuficiente en Colombia y, en consecuencia, no hay suficiente información sobre las diferencias de género en esta población. No evaluar e intervenir este comportamiento desde un enfoque de diferencias sexuales impacta negativamente la efectividad de las políticas criminales. En esta investigación participaron 1050 jóvenes infractores, seleccionados por conveniencia. Se incluyeron 855 hombres y 195 mujeres de 14 a 19 años de edad residentes en Medellín (Antioquia). Los principales resultados fueron: 1) muy altos niveles de agresividad proactiva, reactiva y total en los adolescentes infractores; 2) la existencia de diferencias en la agresividad proactiva y agresividad total en las mujeres comparadas con los hombres; y 3) la variación de la agresividad de acuerdo con ciertas variables sociodemográficas y asociadas con el delito.

(analytical) Research on aggressiveness among young offenders is insufficient in Colombia and, consequently, there is not enough information on gender differences related to aggression for this population. Failure to evaluate and intervene with this behavior using a gender perspective negatively impacts the effectiveness of criminal policies. A total of 1050 young offenders, selected based on ease of access, participated in this research study. The population consisted of 855 males and 195 females between 14 and 19 years of age living in Medellín. The main results were: 1) there were very high levels of proactive, reactive and total aggressiveness in adolescent offenders; 2) there were differences in proactive aggressiveness and total aggressiveness in females compared to males; and 3) levels of aggressiveness varied depending on certain sociodemographic and crime-associated variables.

(analítico) A pesquisa sobre a agressividade em jovens infratores é insuficiente na Colômbia e, conseqüentemente, não há informações suficientes sobre as diferenças de gênero nesta população. Não avaliar e intervir neste comportamento a partir de uma perspectiva de gênero tem um impacto negativo na eficácia das políticas criminais. Esta pesquisa envolveu 1050 jovens infratores, selecionados por conveniência. Entre eles estavam 855 homens e 195 mulheres entre 14 e 19 anos de idade morando em Medellín. Os principais resultados foram: 1) níveis muito altos de agressividade proativa, reativa e total nos adolescentes infratores; 2) a existência de diferenças na agressividade proativa e total nas mulheres em comparação com os homens, e 3) a variação da agressividade de acordo com certas variáveis sociodemográficas e relacionadas ao crime.

Factores dinámicos asociados a la reincidencia de menores infractores en España y Portugal: revisión sistemática y metaanálisis / Dynamic factors associated with recidivism among juvenile offendersin Spain and Portugal: systematic review and meta-analysis / Fatores dinâmicos associadosà reincidência entre delinquentes juvenis na Espanha e em Portugal: revisão sistemática e meta-nálise

El presente artículo analiza la evidencia empírica que aportan los estudios sobre la influencia de los factores dinámicos asociados a la reincidencia criminal de menores infractores dentro del contexto español y portugués. La búsqueda de los términos Juvenile delinquency* OR juvenile offenders* AND recidivism* OR Risk factors * se realizó en las bases de datos Scopus, ScienceDirect, Web of science, Dialnet, Scielo y ProQuest. Aplicados los criterios de inclusión y exclusión, de un total de 105 653 artículos, se seleccionaron 20 para análisis cualitativo y 3 para incluir en el metaanálisis. El estudio permite concluir que los factores dinámicos con mayor capacidad de predicción son la educación, la relación con el grupo de pares, el tiempo de ocio, la familia y el consumo de SPA.

This article analyses the empirical evidence provided by studies on the influence of dynamic factors associated with the criminal recidivism of juvenile offenders in the Spanish and Portuguese context. The search for the terms Juvenile delinquency* OR juvenile offenders* AND recidivism* OR Risk factors* was carried out in the databases Scopus, ScienceDirect, Web of science, Dialnet, Scielo and ProQuest. After applying the inclusion and exclusion criteria, out of a total of 105 653 articles, 20 were selected for qualitative analysis and 3 for inclusion in the meta-analysis. The study allows us to conclude that the dynamic factors with the greatest predictive capacity are education, relationship with peer group, leisure time, family and PAS consumption.

Este artigo analisa as evidências empíricas fornecidas por estudos sobre a influência de fatores dinâmicos associados à reincidência de crimes de menores nos contextos espanhol e português. A busca pelos termosjuvenile delinquency* OR juvenile offenders* AND recidivism* OR risk factors* foi realizada nos bancos de dados Scopus, ScienceDirect, Web of Science, Dialnet, SciELO e ProQuest. Após a aplicação dos critérios de inclusão e exclusão, de 105.653 artigos, 20 foram selecionados para a análise qualitativa e 3 para a inclusão na meta-nálise. O estudo nos permite concluir que os fatores dinâmicos com maior capacidade preditiva são educação, relacionamento com o grupo de pares, tempo de lazer, família e consumo de PAS.

El sicariato: una mirada al fenómeno desde la perspectiva criminológica / Contract assasination: a criminological perspective on the phenomenon / Sicariato: uma perspectiva criminológica sobre o fenômeno

Antecedentes: el sicariato es un fenómeno de violencia que afecta a la sociedad contemporánea, en medio de valores relativos al respeto de la vida y la integridad humana. En Colombia, los datos y cifras de los homicidios evidencian que durante los años 2017-2020 se presentaron aproximadamente 26 161 casos en la modalidad sicariato; las motivaciones se asocian fundamentalmente al narcotráfico, economías ilegales, disputas territoriales y factores sociales. Objetivo: identificar la etimología de la palabra "sicario", características, investigaciones y algunas tendencias generacionales sobre el sicariato. Método: este estudio se realizó desde un enfoque cualitativo, diseño documental mediante la revisión de algunas teorías sobre subculturas criminales (Cohen, 1955), el aprendizaje de la conducta delictiva (Sutherland, 1974), aprendizaje social (Bandura, 1987; Becker, 1974), crimen y castigo (Bourdieu, 1997), el entorno social que lo rodea y economía criminal, otros autores y revisión bases de datos: Mendeley, Proquest, Redalyc, base, BBC learning english, entre otros. Resultados: este trabajo permitió recoger conceptos, características, tendencias delictivas y análisis criminológicos del fenómeno; se establecen algunas tipologías, por modus operandi y capacidad del perpetrador del hecho punible, surgimiento del sicariato en Colombia y algunas características de los códigos de conducta de las dos últimas generaciones de sicarios. Finalmente, se plantean las conclusiones.

Background: hired assassination is a phenomenon of violence that affects contemporary society, amidst values related to respect for life and human integrity. In Colombia, homicide data and figures show that during the years 2017-2020 there were approximately 26 161 cases in the form of hired killings; the motivations mainly associated with drug trafficking, illegal economies, territorial disputes and social factors. Objective: to identify the etymology of the word "sicario", characteristics, research and some generational trends regarding contract killing. Method: this study was conducted based on a qualitative approach, documentary design by reviewing several theories on criminal subcultures (Cohen, 1955), learning about criminal behaviour (Sutherland, 1974), social learning (Bandura, 1987; Becker, 1974), crime and punishment (Bourdieu, 1997) and the surrounding social environment and criminal economy, studying other authors and reviewing the databases: Mendeley, Proquest, Redalyc, base, BBC learning English, among others. Results: this work allowed the collection of concepts, characteristics, criminal trends and criminological analysis of the phenomenon; some typologies are established, by modus operandi and capacity of the perpetrator of the punishable act, the emergence of assasination by contract in Colombia and some characteristics of the codes of conduct of the last two generations of hitmen. Finally, conclusions are drawn.

Antecedentes: o sicariato ou o assassinato contratado é um fenômeno de violência que afeta a sociedade contemporânea, em meio a valores relacionados ao respeito à vida e à integridade humana. Na Colômbia, os dados e números de homicídios mostram que, durante 2017 e 2020, houve aproximadamente 26 161 casos na forma de sicariato ou assassinatocontratado; as motivações estão associadas principalmente ao tráfico de drogas, economias ilegais, disputas territoriais e fatores sociais. Objetivo: identificar a etimologia da palavra "sicário", características, pesquisas e algumas tendências geracionais sobre o sicariato. Método: este estudo foi realizado a partir de uma abordagem qualitativa, com desenho documental, por meio da revisão de algumas teorias sobre subculturas criminais (Cohen, 1955), aprendizagem do comportamento criminoso (Sutherland, 1974), aprendizagem social (Bandura, 1987; Becker, 1974), crime e castigo (Bourdieu, 1997), ambiente social circundante e economia criminal, outros autores e bancos de dados de revisão: Mendeley, Proquest, Redalyc, base, BBC learning english, entre outros. Resultados: este trabalho permitiu a coleta de conceitos, características, tendências criminais e análise criminológica do fenômeno; são estabelecidas algumas tipologias, por modus operandi e capacidade do autor do ato punível, o surgimento do sicariato na Colômbia e algumas características dos códigos de conduta das duas últimas gerações de sicários. Por fim, são apresentadas as conclusões.

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG

Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open?angle glaucoma (JOAG). Methods: Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier–Osguthorpe–Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)?enabled Desmond module of Schrödinger). Results: There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. Conclusion: In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/ heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.

A comparative study on surgical outcomes of trabeculectomy with and without anti-metabolites in juvenile open-angle glaucoma

Purpose: To compare the surgical outcomes of trabeculectomy with and without anti?metabolites in patients with juvenile open?angle glaucoma (JOAG). Methods: This retrospective comparative case series included 98 eyes of 66 patients with JOAG who underwent either trabeculectomy without anti?metabolites (group A, n = 53 eyes) or with anti?metabolites (group B, n = 45 eyes) with a minimum of 2 years follow?up. The main outcome measures were intra?ocular pressure (IOP), number of glaucoma medications, visual acuity, additional surgical interventions, surgical complications, and risk factors for failure. Surgical failure was defined as IOP >18 mmHg or failure to reduce IOP by <30% from the baseline value or IOP ?5 mmHg or re?operation for refractory glaucoma or a complication or loss of light perception vision. Results: The mean post?operative IOP reduced significantly from baseline at all post?operative visits until 6 months and thereafter. The cumulative probability of failure at 2 years was 28.7% in group A [95% confidence interval (CI) = 17.6–44.8%] and 29.1% in group B (95% CI = 17.1–46.7%) (P = 0.78). Surgical complications occurred in 18 eyes (34%) in group A and 19 eyes (42%) in group B. Re?operations for glaucoma or complications were performed in two eyes (3.8%) in group A and two eyes (4.4%) in group B. Cox?hazard regression model revealed male gender (HR = 0.29; P = 0.008), baseline high IOP (HR = 0.95; P = 0.002), and an increased number of pre?operative glaucoma medications (HR = 2.08; P = 0.010) as significant factors associated with failure. Conclusion: Our study results on trabeculectomy in JOAG revealed a success of 71% in both groups at 2 years follow?up. There was no significant difference in success or failure rates between the two groups. The risk factors for poor surgical outcome in JOAG were male gender, baseline high IOP, and an increased number of glaucoma medications

Caracterización de la agresividad en adolescentes con trastorno de la conducta grave: un estudio exploratorio

El trastorno de conducta grave es un notable problema social y de salud mental en población infantil y adolescente. Aquí se presentan los resultados de una investigación cuantitativa de nivel descriptivo, que tuvo como objetivo general realizar una caracterización de la agresividad en un grupo de adolescentes con este tipo de trastorno. El estudio se desarrolló con jóvenes de un centro de internamiento preventivo que se encontraban en proceso de judicialización, aún no sancionados, pero privados de la libertad. Se seleccionaron por conveniencia 115 hombres, a los que se les aplicaron cinco instrumentos de medición: el Inventario de Motivos para la Agresión, el Inventario de Situaciones y Comportamientos Agresivos, el Cuestionario de Agresión de Buss-Perry, el Cuestionario de Agresividad Proactiva y Reactiva, y la Escala de Agresividad Apetitiva. El principal motivo para la agresión era conseguir algo que querían, eran agresivos sin que hubiese algún motivo, expresaban frecuentemente su ira, amenazaban a personas conocidas, se enojaban cuando tenían desacuerdos, creían que los demás se burlaban de ellos a sus espaldas, se sentían bien después de agredir física o verbalmente a alguien, portaban armas para usarlas en peleas y consideraban que pelear era lo único que querían hacer en la vida.

Severe conduct disorder is a notable social and mental health problem in child and adolescent population. Here we present the results of a descriptive quantitative research with the general objective of characterizing aggressiveness in a group of adolescents with this type of disorder. The study was carried out with young people from a preventive detention center who were in the process of judicialization, not yet sanctioned, but deprived of their liberty. A total of 115 males were selected by convenience and five measurement instruments were applied: the Motives for Aggression Inventory, the Aggressive Situations and Behavior Inventory, the Buss-Perry Aggression Questionnaire, the Proactive and Reactive Aggressiveness Questionnaire, and the Appetitive Aggressiveness Scale. The main motive for aggression was to get something they wanted, they were aggressive for no reason, they frequently expressed anger, threatened people they knew, got angry when they had disagreements, believed that others made fun of them behind their backs, felt good after physically or verbally assaulting someone, carried weapons to use in fights, and considered that fighting was the only thing they wanted to do in life.

Artritis idiopática juvenil, forma sistémica. A propósito de un caso

La artritis idiopática juvenil es la enfermedad reumática crónica más frecuente en niños, y una de las enfermedades crónicas más comunes en la infancia. En Angola no se han realizado revisiones de casos de dicha enfermedad de inicio sistémico, y solo se han reportado escasas publicaciones en el continente africano, en países como Egipto y Sudáfrica. El objetivo de este trabajo es describir un caso de artritis idiopática juvenil sistémica en una paciente de dos años que presentó síntomas como poliartritis, eritema evanescente, adenopatías, fiebre prolongada y visceromegalias. Este es el primer caso de artritis idiopática juvenil reportado en dicho país.

Juvenile idiopathic arthritis is the most frequent rheumatic disease and one of the most common chronic diseases in childhood. In Angola, there are no reviews reported of this systemic onset disease, and only few publications have been reported on the African continent, in countries such as Egypt and South Africa. The objective of this work is to inform on a case of systemic juvenile idiopathic arthritis in a two-years-old patient who presented symptoms such as polyarthritis, evanescent erythema, lymphadenopathies, prolonged fever and visceromegaly. This is the first case of juvenile idiopathic arthritis reported in that country.

Visual outcome in pediatric uveitis: A retrospective data review in 277 children

Purpose: The research activity in pediatric glaucoma (PG) was qualitatively and quantitatively evaluated using a scientometric approach. Methods: The “Web of Science” database was accessed for primary bibliometric data regarding PG using search terms “pediatric glaucoma,” “paediatric glaucoma,” “congenital glaucoma,” and “childhood glaucoma.” The data was analyzed for total research productivity, citations, and scientific output in terms of journals, countries, institutions, and authors. The results were further characterized for coauthorship links and visualized by VOS viewer software. Also, the top 25 cited articles were reviewed with the above bibliometric characteristics. Results: One thousand two hundred and sixty?nine items were obtained from our search query from 1955 to 2022; these received 15,485 citations, originated from 78 countries. The top?3 contributing countries were the United States of America (n = 369), India (n = 134), and China (n = 127). LV Prasad Eye Institute (n = 58), Duke University (n = 44), and King Khalid Eye Specialist Hospital (n = 42) were the top?3 productive institutes. The top?3 prolific authors were Mandal AK (n = 53), Freedman, SF (n = 36), and Sarfarazi, M (n = 33). Journal wise, “Investigative Ophthalmology” (n = 187), “Journal of Glaucoma” (n = 92), and “Journal of AAPOS” (n = 68) were the journals in which the most articles were published. The top?25 cited documents received 3564 citations and were published between 1977 and 2016. The key areas of interest were basic sciences (genetics of childhood glaucoma) and surgical management. Conclusion: United States of America, LVPEI, Mandal AK, and “Investigative Ophthalmology” were the top rankers as far as the productivity and publications related to PG are concerned. Articles on molecular genetics in PG have received interest among the ophthalmology community.

Huntington juvenil y fenocopia intrafamiliar a propósito de dos casos / Juvenile Huntington and intrafamily phenocopy, about two cases

RESUMEN La enfermedad de Huntington (EH) es una enfermedad neurodegenerativa hereditaria de progresión irremediablemente fatal. Existen otros trastornos con síntomas semejantes a los de esta enfermedad y que son llamados fenocopias. En nuestro reporte, se presentan los casos de dos hermanos con fenotipo compatible con EH, uno ellos con una fenocopia intrafamiliar, caracterizada por un síndrome coreico y cambios del comportamiento, con estudio genético negativo para EH. El caso índice cursa con una forma parkinsoniana de EH de inicio juvenil, con evolución lentamente progresiva que, además, presenta síntomas neuropsiquiátricos, con respuesta mínima a tratamiento sintomático con psicofármacos. El hermano mayor, caso de fenocopia intrafamiliar, cursó con movimientos discinéticos cervicofaciales y faciales severos, psicosis y cognición conservada. En conclusión, las fenocopias de EH pueden presentarse incluso dentro de una familia con EH genéticamente confirmada. Se recomienda una detallada evaluación neurológica y un estudio genético apropiado en todos los casos en que se tenga sospecha clínica de EH, incluso en familiares directos de pacientes diagnosticados con la enfermedad.

ABSTRACT Huntington's disease (HD) is an inherited neurodegenerative disorder with an always fatal outcome. Other disorders resemble the symptoms of this disease and are called phenocopies. The cases of two brothers in a family affected with a phenotype compatible with HD, are presented, one of them an intrafamilial phenocopy, characterized by choreic syndrome, abnormal behavior, and negative HD genetic testing. The index case evolves with a juvenile-onset slowly progressive parkinsonian form of HD that, in addition, presents neuropsychiatric symptoms with minimal response to symptomatic treatment with dopamine antagonists. The older brother, the intrafamilial phenocopy, experienced severe facial cervicofacial and cervical dyskinetic movements, psychosis, and preserved cognition. In conclusion, the HD phenocopies might occur even within a known, genetically confirmed HD family. It is recommended to perform a detailed neurological examination together with appropriate genetic testing in all cases with clinical suspicious of HD, including direct family members of HD affected individuals.

Empatía y disposición a la reconciliación socioemocional en adolescentes penalizados

(analítico) Este estudio analiza la relación entre la empatía y la disposición a la reconciliación socioemocional en adolescentes infractores de la ley. Con un diseño no experimental, correlacional-predictivo, participaron 171 jóvenes entre 15 y 23 años, judicializados con medida privativa de la libertad en Colombia, 81.1% (n = 137) hombres y 19.9 % (n = 34) mujeres. Se utilizó el índice de reactividad interpersonal y la escala de reconciliación socioemocional. Se hallaron correlaciones positivas (p < 0.05) entre la empatía y la reconciliación socioemocional. El análisis de regresión mostró que la empatía tiene efecto predictor positivo (p < 0.001) sobre la reconciliación socioemocional total (R2=0.154), intrapersonal (R2 = 0.081) e interpersonal (R2 = 0.185). Se concluye que la empatía incide en los procesos de reconciliación socioemocional de los adolescentes judicializados.

(analytical) This study analyzes the relationship between empathy and the disposition to socioemotional reconciliation in adolescent offenders of the law. With a non-experimental, correlational-predictive design, 171 young people between 15 and 23 years of age participated in the study, all of whom had been sentenced to imprisonment in Colombia. 81.1% (n = 137) males and 19.9% (n = 34) females. The interpersonal reactivity index and the socioemotional reconciliation scale were used. Positive correlations (p < 0.05) were found between empathy and socioemotional reconciliation. Regression analysis showed that empathy has positive predictor effect (p < 0.001) on total (R2 = 0.154), intrapersonal (R2 = 0.081) and interpersonal (R2 = 0.185) socioemotional reconciliation. It is concluded that empathy has an impact on the socioemotional reconciliation processes of judicialized adolescents.

(analítico) Neste estudo é analisada a relação entre empatia e disposição para a reconciliação sócio-emocional em adolescentes infratores da lei. Com um desenho não experimental, correlativo-preditivo, participaram do estudo 171 jovens entre 15 e 23 anos de idade, que haviam sido condenados a penas de prisão na Colômbia. 81,1% (n = 137) machos e 19,9% (n = 34) fêmeas. Foram utilizados o índice de reatividade interpessoal e a escala de reconciliação socioemocional. Foram encontradas correlações positivas (p< 0,05) entre empatia e reconciliação socioemocional. A análise de regressão mostrou que a empatia tem um efeito preditor positivo (p < 0,001) sobre o total (R2 = 0,154), intrapessoal (R2 = 0,081) e a reconciliação sócio-emocional interpessoal (R2 = 0,185). Conclui-se que a empatia tem um impacto sobre os processos de reconciliação socioemocional de adolescentes judicializados.