Valores de referencia para el 1-minute sit-to-stand test en pacientes pediátricos con artritis idiopática juvenil / Reference values for the 1-minute sit-to-stand test in pediatric patients with juvenile idiopathic arthritis

Introducción: los niños con artritis idiopática juvenil (AIJ) experimentan períodos de dolor e inmovilidad que afectan sus capacidades condicionales. Objetivos: describir los valores de referencia para el 1-minute Sit-to-Stand Test(1-STS; test de 1 minuto de sentarse y pararse) en niños con AIJ como evaluación de la capacidad aeróbico-funcional y de la fuerza muscular de los miembros inferiores (MMII).Materiales y métodos: se realizó un estudio observacional que incluyó a 15 niños con AIJ de entre 5 y 16 años. Se evaluó su rendimiento en el 1-STS. Resultados: se encontró una correlación positiva significativa entre el 1-STS y el test de la marcha de 6 minutos (r=0,56; p=0,03), como con el índice de capacidad funcional (CAPFUN) (r=0,54; p=0,03). No se observaron correlaciones significati-vas entre el Childhood Health Assessment Questionnaire (CHAQ) y el 1-STS (r=-0,21; p=0,44), tampoco con el Juvenile Arthritis Disease Activity Score (JADAS-10) (p=0,83). Conclusiones: el 1-STS parece prometedor para medir la capacidad aeróbi-co-funcional y la fuerza muscular de los miembros inferiores en niños con AIJ oligoarticular.

Introduction: children with juvenile idiopathic arthritis (JIA) experience periods of pain and immobility that affect their physical capacities. Objectives: to describe reference values for the 1-minute sit to stand test (1-STS) in children with JIA as an assessment of aerobic-functional capacity and lower limb muscle strength.Materials and methods: an observational study was conducted, including 15 children with JIA aged between 5 and 16 years. Their performance in the 1-STS was assessed. Results: a significant positive correlation was found between the 1-STS and the 6-Minute Walk Test (r=0,56; p=0,03), as well as with the Functional Capacity Index (CAPFUN) (r=0,54; p=0,03). No significant correlations were observed between the Childhood Health Assessment Questionnaire (CHAQ) and the 1-STS (r=-0,21; p=0,44), nor with the Juvenile Arthritis Disease Activity Score (JADAS-10) (p=0,83). Conclusions: the 1-STS appears promising for assessing aerobic-functional capacity and lower limb muscle strength in children with oligoarticular JIA.

Tumor de células de la granulosa tipo juvenil tras la menopausia / Juvenile granulosa cell tumor in menopausal woman

Los tumores de células de la granulosa son tumoraciones ováricas infrecuentes. Hay dos tipos histológicos: adulto y juvenil. Los tumores de células de la granulosa juvenil representan el 5 %, y solamente un 3 % ocurre en mayores de 30 años. Ante la sospecha, el diagnóstico definitivo intraoperatorio es complejo dada su rareza y su fácil confusión con otras neoplasias ováricas. El patrón quístico con células de la granulosa inmaduras, con frecuentes mitosis, la ausencia de cuerpos de Call-Exner y el estudio inmunoquístico lo confirman. Su baja prevalencia dificulta su diagnóstico. El estadio de la enfermedad es el factor pronóstico más importante, y resulta imprescindible una completa resección. El papel de la terapia complementaria no está bien establecido, además los estudios disponibles solamente incluyen un número mínimo de casos, que no diferencian mujeres adultas. El adecuado seguimiento para la detección precoz de una posible recidiva tardía supone un reto clínico(AU)

Granulosa cell tumors are rare ovarian tumors. There are two histological types: adult and juvenile. Juvenile granulosa cell tumors account for 5%, with only 3% occurring in people over 30 years of age. Given the suspicion, the definitive intraoperative diagnosis is complex given its rarity and its easy confusion with other ovarian neoplasms. The cystic pattern with immature granulosa cells, with frequent mitosis, the absence of Call-Exner bodies and the immunocystic study confirm this. Its low prevalence makes it difficult to diagnose. The stage of the disease is the most important prognostic factor, and complete resection is essential. The role of complementary therapy is not well established, and the available studies include only a minimal number of cases, which do not differentiate between adult women. Adequate follow-up for the early detection of a possible late recurrence is a clinical challenge(AU)

Valores de referencia para el 1-minute sit-to-stand test en pacientes pediátricos con artritis idiopática juvenil / Reference values for the 1-minute sit-to-stand test in pediatric patients with juvenile idiopathic arthritis

Resumen Introducción: los niños con artritis idiopática juvenil (AIJ) experimentan períodos de dolor e inmovilidad que afectan sus capacidades condicionales. Objetivos: describir los valores de referencia para el 1-minute Sit-to-Stand Test (1-STS; test de 1 minuto de sentarse y pararse) en niños con AIJ como evaluación de la capacidad aeróbico-funcional y de la fuerza muscular de los miembros inferiores (MMII). Materiales y métodos: se realizó un estudio observacional que incluyó a 15 niños con AIJ de entre 5 y 16 años. Se evaluó su rendimiento en el 1-STS. Resultados: se encontró una correlación positiva significativa entre el 1-STS y el test de la marcha de 6 minutos (r=0,56; p=0,03), como con el índice de capacidad funcional (CAPFUN) (r=0,54; p=0,03). No se observaron correlaciones significativas entre el Childhood Health Assessment Questionnaire (CHAQ) y el 1-STS (r=-0,21; p=0,44), tampoco con el Juvenile Arthritis Disease Activity Score (JADAS-10) (p=0,83). Conclusiones: el 1-STS parece prometedor para medir la capacidad aeróbico-funcional y la fuerza muscular de los miembros inferiores en niños con AIJ oligoarticular.

Abstract Introduction: children with juvenile idiopathic arthritis (JIA) experience periods of pain and immobility that affect their physical capacities. Objectives: to describe reference values for the 1-minute sit to stand test (1-STS) in children with JIA as an assessment of aerobic-functional capacity and lower limb muscle strength. Materials and methods: an observational study was conducted, including 15 children with JIA aged between 5 and 16 years. Their performance in the 1-STS was assessed. Results: a significant positive correlation was found between the 1-STS and the 6-Minute Walk Test (r=0,56; p=0,03), as well as with the Functional Capacity Index (CAPFUN) (r=0,54; p=0,03). No significant correlations were observed between the Childhood Health Assessment Questionnaire (CHAQ) and the 1-STS (r=-0,21; p=0,44), nor with the Juvenile Arthritis Disease Activity Score (JADAS-10) (p=0,83). Conclusions: the 1-STS appears promising for assessing aerobic-functional capacity and lower limb muscle strength in children with oligoarticular JIA.

Professor FAN Yongsheng's Academic Experience in Treating Systemic Juvenile Idiopatic Arthritis from the Latent Pathogens Warm Disease / 浙江中医药大学学报

[Objective]To review and summarize the academic experience of Professor FAN Yongsheng,one of the first session national famous traditional Chinese medicine masters,in the treatment of systemic juvenile idiopathic arthritis.[Methods]Through follow-up study,sorting out and analyzing typical medical records,and referring to relevant literature,combined with Professor FAN Yongsheng's works and clinical practice,Professor FAN Yongsheng's academic experience in the treatment of systemic juvenile idiopathic arthritis was summarized from two aspects of etiology,pathogenesis and treatment ideas,and one proven case was attached for evidence.[Results]Professor FAN Yongsheng believes that the pathogenic process of systemic juvenile idiopathic arthritis conforms to the law of the transformation of warm diseases Wei Qi Ying Xue,which is similar to the pathogenic characteristics of latent pathogenic febrile diseases.It is mostly caused by the deficiency of healthy Qi in the interior,combined with the invasion of external pathogens,hidden in the interior,waiting for opportunities,or triggered by external pathogens.Clinical application of fire stagnation requires dissipation,dispersing and expelling the latent pathogens;protecting the healthy Qi,moderating exorcism;sequential therapy,toxicity reduction and efficacy enhancement and other treatment ideas have achieved satisfactory clinical results in the treatment of this disease.In the test case,the initial manifestation of the patient was the pathogen lurking in Yin phase,dual blaze of Qi and Ying,and the treatment was to clear heat toxin and harmonize Ying,dispel wind and dredge collaterals;after treatment,rash regression and fever relieve,latent pathogens were affected from Yin to Yang and cardinal dysfunction,and the treatment was to reconcile cardinal,clear and expel the stagnant heat;when the pathogenic Qi disappeared gradually,the healthy Qi declined,the treatment was given to disperse and expel the heat,combined with invigorating the spleen and harmonizing the stomach.The whole process of treatment was permeated throughout dispersing latent pathogens,and at the same time reflecting Professor FAN Yongsheng's treatment ideas of flexible drug use,taking care of healthy Qi.[Conclusion]Professor FAN Yongsheng has achieved good clinical results in the treatment of systemic juvenile idiopathic arthritis based on the theory of latent pathogenic warm disease,and his academic experience is worthy of reference and promotion.

Advances in genetic characterization and genes of juvenile open angle glaucoma / 国际眼科杂志(Guoji Yanke Zazhi)

Juvenile open angle glaucoma(JOAG)is a subtype of primary open angle glaucoma(POAG)that severely affects the quality of life of young patients and has a high disability rate. While JOAG is commonly considered an autosomal dominant disease, it has been found to have a diverse mode of inheritance, including autosomal recessive inheritance in specific populations. The variable genetic predisposition of JOAG may be attributed to the co-regulation of several key disease-causing genes, such as MYOC, CYP1B1, and CPAMD8. Mutations in these genes are closely associated with various biological processes in ocular tissues, including cellular metabolic regulation, oxidative stress response, and abnormal induction of programmed death. Therefore, a comprehensive study of the causative genes associated with JOAG is crucial to understanding the specific genetic background of disease onset, progression, and clinical phenotype. This knowledge will provide a strong foundation for early identification and screening of high-risk populations. The objective of this review is to focus on the genetic characterization and genetic studies of JOAG. Through a systematic review of the relevant literature, we summarize the causative genes and their mutations associated with JOAG and explore their potential applications and value in advancing research in the field, aiming to provide valuable insights for the diagnosis and treatment of JOAG.

Juvenile Parkinson's disease caused by PRKN gene compound heterozygous mutation:A case report and literature review / 吉林大学学报(医学版)

Objective:To conduct the genetic analysis of a family with one patient suffering from juvenile Parkinson's disease(JP)and discuss the clinical manifestations,genetic mutation characteristics,and treatment plans prompted by PRKN gene compound heterozygous mutations,and to enhance the clinicians'awareness of this disease.Methods:The clinical data of one patient with JP caused by PRKN gene mutations was analyzed,the clinical manifestations and genetic mutation features of the patient were summarized,and the related literatures were reviewed.Results:The patient,a 16-year-old male,was admitted to the hospital due to unstable gait,trembling limbs with rigidity in both lower limbs for three years.The examination results revealed a panic gait,clear consciousness,fluent speech,normal muscle strength in limbs,increased"gear-like"muscle tone in both upper limbs,and"lead-pipe"rigidity in both lower limbs;the sensory functions and tendon reflexes were normal.The head,neck,and thoracic magnetic resonance imaging(MRI)results showed no abnormalities.18F-fluorodeoxyglucose(18F-FDG)positron emission tomography/computed tomography(PET/CT)results showed that the head size and shape were normal,the glucose metabolism in the left cerebellum and middle temporal gyrus was slightly decreased,and the glucose metabolism in bilateral thalami,right frontal lobe,parietotemporal lobe,and left medial frontal lobe was increased.The dopamine transporter(DAT)PET/CT results showed that there was no radioactive distribution in the brain cortex and the DAT distribution in the posterior part of both striata was decreased.The whole-exome sequencing results showed the patient had two PRKN gene mutations,such as codons c.8T>A and c.850G>C compound heterozygous mutations,and each mutation was from one parent;the patient's father carried the c.8T>A mutation,the patient's mother carried the c.850G>C mutation,and the patient's sister had the same genetic mutation site as the patient's father.Conclusion:PRKN gene compound heterozygous mutations may be the basis of the disease in this family.Identification of the mutation c.8T>A expands the mutation spectrum of the PRKN gene,and provides the valuable information for the research on the pathogenic genetic mutations of the JP patients.

Advances in enthesitis-related arthritis / 国际儿科学杂志

Enthesitis related arthritis（ERA）is one of the subtypes of juvenile idiopathic arthritis（JIA）. It is a group of diseases characterized by arthritis，inflammation，axial lesions，and human leucocyte antigen-B27 positive. In the previous classification criteria，ERA does not include all of the subsets of juvenile spondyloarthritis（JSpA）. Based on an evidence-based approach，the Pediatric Rheumatology International trials Organization developed the latest classification criteria in 2019，and proposed the classification criteria of ERA/SpA，to distinguish it from other subtypes of JIA. The new definition added the term spondylitis，included imaging criteria，and adopted a new definition of back pain. The pathogenesis，evolution of classification criteria and prognosis of spondyloarthritis are described in this paper，in order to improve the level of diagnosis and treatment of patients with axial joint involvement，so as to improve the prognosis.

Analysis of therapeutic effect of thalidomide on refractory systemic onset juvenile idiopathic arthritis / 国际儿科学杂志

Objective:To analyze and summarize the efficacy and safety of thalidomide in the treatment of refractory systemic juvenile idiopathic arthritis（sJIA）.Methods:The clinical data of ten patients with refractory sJIA admitted to Department of Nephrology and Immunology in Children's Hospital of Hebei Province from January 2015 to March 2022 were collected，and the clinical manifestations，efficacy and safety of thalidomide in the treatment of refractory sJIA were analyzed retrospectively. Systemic juvenile arthritis disease activity score（sJADAS）was used to evaluate the efficacy of the treatment. Statistical analysis was performed by repeated measurements using general linear models.Results:Among the 10 children（4 males and 6 females）with refractory sJIA，the average age of onset was（7.5±3.3）years. Seven patients were complicated with macrophage activation syndrome at an early stage of disease.The average course of disease was（4.4±1.7）years，and the longest course of disease was 8.3 years. Before the application of thalidomide，all the 10 children experienced relapses（ranging from 2 to 10 times）. The indices of 10 children treated with thalidomide at 6 months and 12 months were compared with those before treatment. Peripheral blood leukocytes［（10.19±3.67）×10 9/L，（8.53±2.83）×10 9/L vs.（16.11±7.81）×10 9/L， F=7.918，11.084， P=0.020，0.009］，C-reactive protein［19.13（0.38，35.21）mg/L，8.05（0.10，18.00）mg/L vs. 59.34（24.20，131.90）mg/L， F=7.030，12.731， P=0.026，0.006］，sJADAS scores［6.00（1.50，12.50）scores，3.00（0，12.50）scores vs. 20.00（11.50，28.00）scores， F=14.710，17.870， P=0.004，0.002］were decreased significantly. The doses of prednisone［0.13（0，0.45）mg/（kg·d），0.02（0，0.06）mg/（kg·d）vs. 0.42（0.16，1.47）mg/（kg·d）， F=5.890，7.623， P=0.041，0.022］were significantly decreased.All the differences were statistically significant. Prednisone was successfully discontinued in 7 cases. Tocilizumab was gradually withdrawn in 3 cases，and tocilizumab administration interval was prolonged in 1 case. None of the 10 children had serious adverse reactions. Conclusion:Thalidomide is clinically effective in the treatment of sJIA，and can reduce the required dose of prednisone and prolong the tocilizumab free remission.

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.

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.

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.

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.

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.

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.

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.

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.