Conocimientos y prácticas sobre sífilis materna y congénita en adolescentes embarazadas en un Hospital General de Paraguay: estudio cualitativo

Introducción: La sífilis en embarazadas, sigue siendo un gran problema de salud pública en todo el mundo, y en Paraguay, no es la excepción. La sífilis congénita puede provocar abortos, muertes fetales y neonatales, peso bajo al nacer, prematuridad y otras anomalías congénitas, el conocimiento general de la población en edad fértil es fundamental. Objetivo: Analizar los conocimientos y prácticas sobre sífilis materna y sífilis congénita en adolescentes embarazadas en un Hospital General de Paraguay. Metodología: Se realizó un estudio cualitativo, fenomenológico descriptivo. Para la recolección de datos se utilizó la entrevista, simple que fue grabada con previa autorización del participante, la conclusión y recomendación serán entregados a la institución y a las adolescentes embarazadas. Resultados: Participaron diez adolescentes, en su mayoría de 19 años de edad, cinco conocen que la sífilis se transmite a través de las relaciones sexuales, sin embargo, desconocen acerca de cómo se transmite la sífilis congénita. Cinco de las adolescentes menciona haber iniciado las relaciones sexuales a los 16 años. Dos adolescentes a los 15 años, dos a los 14 años y una a los 17 años, nueve de las adolescentes embarazadas mencionan acudir a sus controles prenatales de forma periódica. Dos aún no se han realizado el test de VDRL. Discusión: Se concluye en cuanto al conocimiento, que solo cinco de diez adolescentes conocen acerca de la sífilis, sin embargo, no conocen sobre la sífilis congénita. En cuanto a las prácticas preventivas, 10 acuden de forma periódica a sus controles prenatales.

Introduction: Syphilis in pregnant women continues to be a major public health problem throughout the world, and in Paraguay, it is no exception. Congenital syphilis can cause abortions, fetal and neonatal deaths, low birth weight, prematurity, and other congenital anomalies; general knowledge of the population of childbearing age is essential. Objective: To analyze the knowledge and practices about maternal syphilis and congenital syphilis in pregnant adolescents in a General Hospital in Paraguay. Methodology: A qualitative, descriptive phenomenological study was carried out. A simple interview was used to collect data, which was recorded with prior authorization from the participant. The conclusion and recommendation will be delivered to the institution and to the pregnant adolescents. Results: Ten adolescents participated, mostly 19 years of age, five know that syphilis is transmitted through sexual relations, however, they do not know how congenital syphilis is transmitted. Five of the adolescent's mention having started sexual relations at the age of 16. Two adolescents at 15 years old, two at 14 years old and one at 17 years old, nine of the pregnant adolescent's mention attending their prenatal check-ups periodically. Two have not yet been tested for VDRL. Discussion: It is concluded in terms of knowledge that only five out of ten adolescents know about syphilis; however, they do not know about congenital syphilis. Regarding preventive practices, 10 attend their prenatal check-ups periodically.

Barreras de acceso a los servicios primarios de salud sexual y reproductiva en adolescentes, de una comunidad urbano marginal del Perú

Introducción: Las barreras de acceso a los servicios de salud primario conforman estructuras sociales que agravan la situación de salud de los adolescentes, impactando negativamente en el ejercicio pleno de la salud sexual reproductiva, situando a los adolescentes en una población de riesgo social. Objetivo: Determinar las barreras en el acceso a los servicios primarios de Salud Sexual y Reproductiva de atención diferenciada a los adolescentes del Centro de Salud I - 4 Pampa Grande Tumbes 2018. Metodología: Estudio analítico de caso control, se entrevistaron a 288 adolescentes del tercero, cuarto y quinto de secundaria de la institución educativa pública Túpac Amaru del centro poblado Pampa Grande de Tumbes en el año 2019, entre experimento y control con una razón de 1 a 1. Se aplicaron cuestionarios anónimos para evaluar las barreras de accesibilidad a los servicios primarios de salud. Se recogieron variables: características sociodemográficas y culturales que son consideradas, como barreras de acceso a los servicios de salud. Se realizó un análisis descriptivo e inferencial con el programa SPSS® v.23. Resultados: La edad, sexo e ingreso económico están directa y significativamente relacionadas con la accesibilidad a los servicios de salud sexual y reproductiva (p<0.01 IC 95 %); La disposición de recursos económicos para asumir los costos de traslado al centro de salud (OR = 4,23); la utilización del transporte público (OR = 1,58), el conocimiento de los servicios de salud sexual y reproductiva (OR = 1,15) incrementan la probabilidad de acceder a los servicios de salud sexual y reproductiva de los adolescentes. Discusión: Las barreras socioeconómicas a los servicios de salud sexual y reproductiva de los adolescentes son modificables y dependen de la gestión en salud pública.

Introduction: The barriers to access to primary health services make up social structures that aggravate the health situation of adolescents, negatively impacting the full exercise of reproductive sexual health, placing adolescents in a population at social risk. Objective: To determine the barriers in the access to the primary services of Sexual and Reproductive Health of differentiated attention to the adolescents of the Health Center I - 4 Pampa Grande Tumbes 2018. Methods: Analytical case control study, 288 adolescents from the third, fourth and fifth grade of secondary school of the public educational institution Túpac Amaru in the Pampa Grande de Tumbes town center were interviewed in 2019, between experiment and control with a ratio of 1 to 1. Anonymous questionnaires were applied to assess accessibility barriers to primary health services. Variables were collected: sociodemographic and cultural characteristics that are considered as barriers to access to health services. A descriptive and inferential analysis was carried out with the SPSS® v.23 program. Results: Age, sex and economic income are directly and significantly related to accessibility to sexual and reproductive health services (p<0.01 95% CI); The availability of economic resources to assume the costs of transportation to the health center (OR = 4.23); the use of public transport (OR = 1.58), knowledge of sexual and reproductive health services (OR = 1.15) increase the probability of accessing sexual and reproductive health services for adolescents. Discussion: Socioeconomic barriers to sexual and reproductive health services for adolescents are modifiable and depend on public health management.

Funções neuropsicológicas de meninas privadas de liberdade em unidade socioeducativa / Neuropsychological functions of girls deprived of liberty in socio-educational unit / Funciones neuropsicológicos de niñas privadas de libertad en unidad socioeducativa

OBJETIVO: A avaliação neuropsicológica tem alta relevância na adolescência e em situação de conflito com a lei, com privação de liberdade em instituições socioeducativas, pode auxiliar, compondo abordagens psicossociais que identifiquem as funções neuropsicológicas, situando-as a partir da historicidade do indivíduo. Deste modo, para compreender esse problema, foi objetivo desse estudo avaliar e descrever as funções neuropsicológicas de adolescentes meninas privadas de liberdade em instituição socioeducativa. MÉTODOS: As participantes foram 19 meninas avaliadas com os instrumentos: Barratt Scale, Inventário de Expressão de Raiva, teste Wisconsin de classificação de cartas, protocolo neuropsicológico, questionário para uso de drogas e Hare Psychopathy Checklist Revised. RESULTADOS: O uso de drogas na vida ocorreu em 80,0% dos casos. Verificaram-se altos escores de impulsividade total (M=75,8, DP=5,4), traço de raiva (M=24,5, DP=7,3) e respostas perseverativas (M =38,5, DP =19,9). Em conjunto com PCL-R total (M=17,5, DP=3,6) e com QI total (M=79,1, DP=16,2), esses níveis auxiliaram na caracterização das funções de autocontrole. CONCLUSÕES: Os dados foram interpretados como indicativos de baixo funcionamento executivo, altos níveis de raiva, de impulsividade, de uso de drogas e de traços de psicopatia. Foram relatadas adversidades durante a infância, o que pode ter contribuído para um desempenho prejudicado nas funções cognitivas e emocionais dessas meninas.

OBJECTIVE: Neuropsychological assessment is highly relevant in adolescence and in situations of conflict with the law, with deprivation of liberty in socio-educational institutions, it can help, composing psychosocial approaches that identify neuropsychological functions, situating them based on the individual's historicity. Therefore, to understand this problem, the objective of this study was to evaluate and describe the neuropsychological functions of adolescent girls deprived of liberty in a socio-educational institution. METHODS: The participants were 19 girls evaluated with the following instruments: Barratt Scale, Anger Expression Inventory, Wisconsin Card Sorting Test, Neuropsychological protocol, drug use questionnaire and Hare Psychopathy Checklist Revised. RESULTS: Lifetime drug use occurred in 80.0% of cases. There were high scores for total impulsivity (M=75.8, SD=5,4), trait anger (M=24.5, SD=7.3) and perseverative responses (M=38.5, SD=19.9). Together with total PCL-R (M=17.5, SD=3.6) and total IQ (M=79.1, SD=16), these levels helped to characterize self-control functions. CONCLUSIONS: The data were interpreted as indicating low executive functioning, high levels of anger, impulsivity, drug use and psychopathic traits. Adversities were reported during childhood, which may have contributed to impaired performance in the cognitive and emotional functions of these girls.

OBJETIVO: La evaluación neuropsicológica es de gran relevancia en la adolescencia y en las situaciones de conflicto con la ley, con privación de libertad en instituciones socioeducativas, puede ayudar, componiendo enfoques psicosociales que identifiquen funciones neuropsicológicas, las situando en función de la historicidad del individuo. Por tanto, para comprender esta problemática, el objetivo de este estudio fue evaluar y describir las funciones neuropsicológicas de niñas adolescentes privadas de libertad en una institución socioeducativa. MÉTODOS: Las participantes fueron 19 niñas evaluadas con los siguientes instrumentos: Escala de Barratt, Inventario de Expresión de Ira, Test de clasificación de cartas de Wisconsin, protocolo neuropsicológico, cuestionario de consumo de drogas y Lista de Verificación de Psicopatía de Hare Revisada. RESULTADOS: El consumo de drogas durante la vida ocurrió en el 80,0% de los casos. Hubo puntuaciones altas en impulsividad total (M = 75,8, DE = 5,4), rasgo de ira (M = 24,5, DE = 7,3) y respuestas perseverativas (M = 38,5, DE = 19,9). Junto con el PCL-R total (M=17,5, DE=3,6) y el CI total (M=79,1, DE=16,2), estos niveles ayudaron a caracterizar las funciones de autocontrol. CONCLUSIONES: Se interpretó que los datos indicaban un bajo funcionamiento ejecutivo, altos niveles de ira, impulsividad, consumo de drogas y rasgos psicopáticos. Se informaron adversidades durante la infancia, que pueden haber contribuido al deterioro del desempeño en las funciones cognitivas y emocionales de estas niñas.

Asociación entre los marcadores lipídicos en la infancia/ adolescencia y los eventos cardiovasculares en la adultez: una revisión sistemática / Association between lipid markers in childhood/ adolescence and cardiovascular events in adulthood: A systematic review

Introducción. La asociación entre los marcadores lipídicos en la infancia/adolescencia y la incidencia de eventos clínicos cardiovasculares en la adultez está poco explorada en la literatura. El objetivo de esta revisión sistemática fue analizar la evidencia disponible sobre este tema. Población y métodos. Esta revisión sistemática se realizó de acuerdo con las guías PRISMA. Se realizó una búsqueda bibliográfica para detectar los estudios que evaluaron la asociación entre los niveles lipídicos en la edad pediátrica y la incidencia de eventos cardiovasculares en la edad adulta. No hubo restricciones idiomáticas ni geográficas en la búsqueda. Resultados. En total, cinco estudios observacionales (todas cohortes prospectivas) que incluyeron 43 540 pacientes fueron identificados y considerados elegibles para este estudio. Cuatro estudios evaluaron el nivel de triglicéridos; todos reportaron una asociación significativa entre este marcador en la edad pediátrica y los eventos cardiovasculares en la adultez. Un estudio reportó la misma asociación con el nivel de colesterol total, mientras que otro evidenció el valor predictivo de la lipoproteína (a) para el mismo desenlace clínico. Un solo estudio evaluó el colesterol asociado a lipoproteínas de alta densidad (C-HDL), sin encontrar una relación con el punto final de interés. El análisis del colesterol asociado a lipoproteínas de baja densidad (C-LDL) arrojó resultados contradictorios, aunque la asociación fue significativa en los estudios con un tamaño muestral más grande y con un mayor número de eventos durante el seguimiento. Conclusión. Los datos de esta revisión sugieren que las alteraciones de los marcadores lipídicos en la infancia y la adolescencia se asocian con un mayor riesgo cardiovascular en la adultez temprana y media.

Introduction. The association between lipid markers in childhood/adolescence and the incidence of clinical cardiovascular events in adulthood has been little explored in the bibliography. The objective of this systematic review was to analyze available evidence on this topic. Population and methods. This systematic review was conducted in accordance with the PRISMA guidelines. A comprehensive bibliographic search was done to find studies assessing the association between lipid levels in childhood and the incidence of cardiovascular events in adulthood. There were no language or geographic restrictions. Results. A total of 5 observational studies (all prospective cohorts) including 43 540 patients were identified and considered eligible for this study. Four studies assessed triglyceride levels; all reported a significant association between this lipid marker in childhood and cardiovascular events in adulthood. A study reported the same association with total cholesterol level, while another showed the predictive value of lipoprotein (a) for the same clinical outcome. Only one study assessed high-density lipoprotein cholesterol (HDL-C), but it did not find an association with the endpoint of interest. The analysis of lowdensity lipoprotein cholesterol (LDL-C) showed contradictory results, although the association was significant in the studies with a larger sample size and a higher number of events during follow-up. Conclusion. According to this review, alterations in lipid markers in childhood and adolescence are associated with a higher cardiovascular risk in early and middle adulthood.

Impacto de la pandemia por SARS-CoV-2 en el índice de masa corporal de niños asistidos en la Ciudad Autónoma de Buenos Aires / Impact of the SARS-CoV-2 pandemic on the body mass index of children seen in the City of Buenos Aires

Introducción. El sobrepeso y la obesidad infantil constituyen un problema de salud pública. El inicio de la pandemia por COVID-19 pudo haber favorecido esta patología. El puntaje Z del índice de masa corporal (Z-IMC) es un indicador aceptado para su diagnóstico y seguimiento. Objetivo. Evaluar si la prevalencia de sobrepeso y obesidad, y el Z-IMC en niños de 2 a 5 años aumentó durante la pandemia. Población y métodos. Estudio de cohorte retrospectiva. Se incluyeron pacientes asistidos en efectores públicos de salud del Gobierno de la Ciudad Autónoma de Buenos Aires (GCABA), de 2 a 5 años de edad, con registro de peso y talla en dos consultas, antes y después de haber comenzado el aislamiento social preventivo y obligatorio (ASPO). Se registró estado nutricional (Z-IMC) y variación del Z-IMC entre ambas consultas. Resultados. Se evaluaron 3866 sujetos, edad promedio 3,4 ± 0,8 años; el 48,1 % fueron mujeres. El intervalo promedio entre consultas fue 14,3 ± 2,5 meses. La prevalencia de sobrepeso/obesidad aumentó del 12,6 % (IC95% 11,6-13,6) al 20,9 % (IC95% 19,6-22-2); p <0,001, al igual que el Z-IMC (0,4 ± 1,1 vs. 0,8 ± 1,3; p <0,001). Conclusión. La prevalencia de sobrepeso y obesidad, y el Z-IMC en niños de 2 a 5 años aumentó significativamente durante la pandemia.

Introduction. Childhood overweight and obesity are a public health problem. The onset of the COVID-19 pandemic may have contributed to this condition. The body mass index (BMI) Z-score has been accepted as an indicator for overweight and obesity diagnosis and follow-up. Objective. To assess whether the prevalence of overweight and obesity and the BMI Z-score in children aged 2 to 5 years increased during the pandemic. Population and methods. Retrospective, cohort study. Patients included were those seen at public health care facilities in the City of Buenos Aires (CABA), who were aged 2 to 5 years, had weight and height values recorded at 2 different visits, before and after the establishment of the preventive and mandatory social isolation policy. Patients' nutritional status (BMI Z-score) and the variation in this indicator between both visits were recorded. Results. A total of 3866 subjects were assessed; their average age was 3.4 ± 0.8 years; 48.1% were girls. The average interval between both visits was 14.3 ± 2.5 months. The prevalence of overweight/ obesity increased from 12.6% (95% CI: 11.6­13.6) to 20.9% (95% CI: 19.6­22.2), p < 0.001, and so did the BMI Z-score (0.4 ± 1.1 versus 0.8 ± 1.3, p < 0.001). Conclusion. The prevalence of overweight and obesity and the BMI Z-score in children aged 2 to 5 years increased significantly during the pandemic.

Seguimiento de niños con diagnóstico de asma grave antes y durante la pandemia por COVID-19 / Follow-up of children diagnosed with severe asthma before and during the COVID-19 pandemic

En la pandemia por COVID-19 se exploraron estrategias de atención para garantizar el seguimiento de niños con asma grave. Estudio prospectivo, observacional, comparativo. Se incluyeron pacientes del programa de asma grave de un hospital pediátrico de tercer nivel (n 74). Se evaluó el grado de control, exacerbaciones y hospitalizaciones durante un período presencial (PP), marzo 2019-2020, y uno virtual (PV), abril 2020-2021. En el PP, se incluyeron 74 pacientes vs. 68 (92 %) del PV. En el PP, el 68 % (46) de los pacientes presentaron exacerbaciones vs. el 46 % (31) de los pacientes en el PV (p 0,003). En el PP, se registraron 135 exacerbaciones totales vs. 79 en el PV (p 0,001); hubo una reducción del 41 %. En el PP, el 47 % (32) de los pacientes tuvieron exacerbaciones graves vs. el 32 % (22) de los pacientes en el PV (p 0,048). Hubo 91 exacerbaciones graves en el PP vs. 49 en el PV (p 0,029), reducción del 46 %. No hubo diferencias en las hospitalizaciones (PP 10, PV 6; p 0,9). La telemedicina fue efectiva para el seguimiento de pacientes con asma grave

During the COVID-19 pandemic, health care strategies were explored to ensure the follow-up of children with severe asthma. This was a prospective, observational, and comparative study. Patients in the severe asthma program of a tertiary care children's hospital were included (n: 74). The extent of control, exacerbations, and hospitalizations during an in-person period (IPP) (March 2019­2020) and an online period (OP) (April 2020­2021) was assessed. A total of 74 patients were enrolled in the IPP compared to 68 (92%) in the OP. During the IPP, 68% (46) of patients had exacerbations versus 46% (31) during the OP (p = 0.003). During the IPP, 135 total exacerbations were recorded compared to 79 during the OP (p = 0.001); this accounted for a 41% reduction. During the IPP, 47% (32) of patients had severe exacerbations versus 32% (22) during the OP (p = 0.048). A total of 91 severe exacerbations were recorded during the IPP compared to 49 during the OP (p = 0.029); the reduction was 46%. No differences were observed in terms of hospitalization (IPP: 10, OP: 6; p = 0,9). Telemedicine was effective for the follow-up of patients with severe asthma.

Tuberculosis abdominal en pediatría: presentación de un caso / Abdominal tuberculosis in pediatrics: A case report

La tuberculosis es una enfermedad infectocontagiosa cuya forma de presentación más frecuente es la pulmonar; la afectación abdominal es poco frecuente, por lo que su diagnóstico continúa siendo un desafío. Las manifestaciones clínicas de la tuberculosis abdominal así como sus hallazgos en el examen físico suelen ser inespecíficos y, en muchas ocasiones, similares a los de otras patologías, por lo que es fundamental considerarla entre los diagnósticos diferenciales. Se presenta el caso clínico de un paciente de sexo masculino, de 15 años de edad, hospitalizado por un síndrome febril prolongado asociado a dolor abdominal, diarrea, sudoración nocturna y pérdida de peso

Tuberculosis is an infectious disease which most commonly compromises the respiratory system, whereas abdominal involvement is rare, thus its diagnosis is a challenge. The clinical manifestations of abdominal tuberculosis as well as its physical examination findings are usually non-specific and, frequently, similar to those of other diseases, so it is critical to consider abdominal tuberculosis among the differential diagnoses. Here we report the clinical case of a 15-year-old male patient hospitalized for a prolonged febrile syndrome associated with abdominal pain, diarrhea, night sweats, and weight loss.

Tumor nasal de músculo liso de comportamiento maligno incierto: informe de un caso / Nasal smooth muscle tumor of uncertain malignant potential: A case report

Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.

Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.

Priapismo y leucemia mieloide crónica en adolescente. Debut poco frecuente. Reporte de caso / Priapism and chronic myeloid leukemia in an adolescent. Rare debut presentation. A case report

El priapismo es una erección dolorosa y persistente acompañada o no de estímulo sexual. Una causa poco frecuente de esta anormalidad es la leucemia mieloide crónica. Se han reportado pocos casos de priapismo como manifestación inicial de una leucemia de este tipo en pacientes adolescentes. A continuación, se informa el caso de un paciente de 16 años de edad que presentó priapismo como manifestación inicial de una leucemia mieloide crónica. Durante su evolución, no se realizó aspiración de los cuerpos cavernosos. Se inició tratamiento hematológico específico y, ante la persistencia del priapismo, fue necesario realizar un shunt de cuerpos cavernosos en dos ocasiones, tratamiento a pesar del cual existen altas probabilidades de secuelas.

Priapism is a painful and persistent erection, with or without sexual stimulation. A rare cause of such abnormality is chronic myeloid leukemia. Few cases of priapism as an initial manifestation of this type of leukemia have been reported in adolescent patients. Here we describe the case of a 16-year-old patient who presented with priapism as the initial manifestation of chronic myeloid leukemia. No cavernosal aspiration was performed. A specific hematological treatment was started and, given the persistence of priapism, the patient required 2 corpora cavernosa shunt procedures; despite this treatment, there is a high probability of sequelae.

Anti-LAMP-2 Antibody Seropositivity in Children with Primary Systemic Vasculitis Affecting Medium- and Large-Sized Vessels.

Chronic primary systemic vasculitis (PSV) comprises a group of heterogeneous diseases that are broadly classified by affected blood vessel size, clinical traits and the presence (or absence) of anti-neutrophil cytoplasmic antibodies (ANCA) against proteinase 3 (PR3) and myeloperoxidase (MPO). In small vessel vasculitis (SVV), ANCA are not present in all patients, and they are rarely detected in patients with vasculitis involving medium (MVV) and large (LVV) blood vessels. Some studies have demonstrated that lysosome-associated membrane protein-2 (LAMP-2/CD107b) is a target of ANCA in SVV, but its presence and prognostic value in childhood MVV and LVV is not known. This study utilized retrospective sera and clinical data obtained from 90 children and adolescents with chronic PSV affecting small (SVV, n = 53), medium (MVV, n = 16), and large (LVV, n = 21) blood vessels. LAMP-2-ANCA were measured in time-of-diagnosis sera using a custom electrochemiluminescence assay. The threshold for seropositivity was established in a comparator cohort of patients with systemic autoinflammatory disease. The proportion of LAMP-2-ANCA-seropositive individuals and sera concentrations of LAMP-2-ANCA were assessed for associations with overall and organ-specific disease activity at diagnosis and one-year follow up. This study demonstrated a greater time-of-diagnosis prevalence and sera concentration of LAMP-2-ANCA in MVV (52.9% seropositive) and LVV (76.2%) compared to SVV (45.3%). Further, LAMP-2-ANCA-seropositive individuals had significantly lower overall, but not organ-specific, disease activity at diagnosis. This did not, however, result in a greater reduction in disease activity or the likelihood of achieving inactive disease one-year after diagnosis. The results of this study demonstrate particularly high prevalence and concentration of LAMP-2-ANCA in chronic PSV that affects large blood vessels and is seronegative for traditional ANCA. Our findings invite reconsideration of roles for autoantigens other than MPO and PR3 in pediatric vasculitis, particularly in medium- and large-sized blood vessels.

Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen.

The objective of this study is to evaluate biomarkers for neurodegenerative disorders in adult SMA patients and their potential for monitoring the response to nusinersen. Biomarkers for neurodegenerative disorders were assessed in plasma and CSF samples obtained from a total of 30 healthy older adult controls and 31 patients with adult SMA type 2 and 3. The samples were collected before and during nusinersen treatment at various time points, approximately at 2, 6, 10, and 22 months. Using ELISA technology, the levels of total tau, pNF-H, NF-L, sAPPß, Aß40, Aß42, and YKL-40 were evaluated in CSF samples. Additionally, plasma samples were used to measure NF-L and total tau levels using SIMOA technology. SMA patients showed improvements in clinical outcomes after nusinersen treatment, which were statistically significant only in walkers, in RULM (p = 0.04) and HFMSE (p = 0.05) at 24 months. A reduction in sAPPß levels was found after nusinersen treatment, but these levels did not correlate with clinical outcomes. Other neurodegeneration biomarkers (NF-L, pNF-H, total tau, YKL-40, Aß40, and Aß42) were not found consistently changed with nusinersen treatment. The slow progression rate and mild treatment response of adult SMA types 2 and 3 may not lead to detectable changes in common markers of axonal degradation, inflammation, or neurodegeneration, since it does not involve large pools of damaged neurons as observed in pediatric forms. However, changes in biomarkers associated with the APP processing pathway might be linked to treatment administration. Further studies are warranted to better understand these findings.

Insights into the Adolescent Cystic Fibrosis Airway Microbiome Using Shotgun Metagenomics.

Cystic fibrosis (CF) is an inherited genetic disorder which manifests primarily in airway disease. Recent advances in molecular technologies have unearthed the diverse polymicrobial nature of the CF airway. Numerous studies have characterised the genus-level composition of this airway community using targeted 16S rDNA sequencing. Here, we employed whole-genome shotgun metagenomics to provide a more comprehensive understanding of the early CF airway microbiome. We collected 48 sputum samples from 11 adolescents and children with CF over a 12-month period and performed shotgun metagenomics on the Illumina NextSeq platform. We carried out functional and taxonomic analysis of the lung microbiome at the species and strain levels. Correlations between microbial diversity measures and independent demographic and clinical variables were performed. Shotgun metagenomics detected a greater diversity of bacteria than culture-based methods. A large proportion of the top 25 most-dominant species were anaerobes. Samples dominated by Staphylococcus aureus and Prevotella melaninogenica had significantly higher microbiome diversity, while no CF pathogen was associated with reduced microbial diversity. There was a diverse resistome present in all samples in this study, with 57.8% agreement between shotgun metagenomics and culture-based methods for detection of resistance. Pathogenic sequence types (STs) of S. aureus, Pseudomonas aeruginosa, Haemophilus influenzae and Stenotrophomonas maltophilia were observed to persist in young CF patients, while STs of S. aureus were both persistent and shared between patients. This study provides new insight into the temporal changes in strain level composition of the microbiome and the landscape of the resistome in young people with CF. Shotgun metagenomics could provide a very useful one-stop assay for detecting pathogens, emergence of resistance and conversion to persistent colonisation in early CF disease.

Metabolic Profiling as an Approach to Differentiate T-Cell Acute Lymphoblastic Leukemia Cell Lines Belonging to the Same Genetic Subgroup.

T-cell acute lymphoblastic leukemia (T-ALL) is an aggressive tumor mainly affecting children and adolescents. It is driven by multiple genetic mutations that together define the leukemic phenotype. Interestingly, based on genetic alterations and/or deregulated expression, at least six genetic subgroups have been recognized. The TAL/LMO subgroup is one of the most represented genetic subgroups, characterizing 30-45% of pediatric T-ALL cases. The study of lipid and metabolic profiles is increasingly recognized as a valuable tool for comprehending the development and progression of tumors. In this study, metabolic and lipidomic analysis via LC/MS have been carried out on four T-ALL cell lines belonging to the TAL/LMO subgroup (Jurkat, Molt-4, Molt-16, and CCRF-CEM) to identify new potential metabolic biomarkers and to provide a subclassification of T-ALL cell lines belonging to the same subgroup. A total of 343 metabolites were annotated, including 126 polar metabolites and 217 lipid molecules. The statistical analysis, for both metabolic and lipid profiles, shows significant differences and similarities among the four cell lines. The Molt-4 cell line is the most distant cell line and CCRF-CEM shows a high activity in specific pathways when compared to the other cell lines, while Molt-16 and Jurkat show a similar metabolic profile. Additionally, this study highlighted the pathways that differ in each cell line and the possible enzymes involved using bioinformatic tools, capable of predicting the pathways involved by studying the differences in the metabolic profiles. This experiment offers an approach to differentiate T-ALL cell lines and could open the way to verify and confirm the obtained results directly in patients.

Prevalence of Selected Polymorphisms of Il7R, CD226, CAPSL, and CLEC16A Genes in Children and Adolescents with Autoimmune Thyroid Diseases.

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are common autoimmune endocrine disorders in children. Studies indicate that apart from environmental factors, genetic background significantly contributes to the development of these diseases. This study aimed to assess the prevalence of selected single-nucleotide polymorphisms (SNPs) of Il7R, CD226, CAPSL, and CLEC16A genes in children with autoimmune thyroid diseases. We analyzed SNPs at the locus rs3194051, rs6897932 of IL7R, rs763361 of CD226, rs1010601 of CAPSL, and rs725613 of CLEC16A gene in 56 HT patients, 124 GD patients, and 156 healthy children. We observed significant differences in alleles IL7R (rs6897932) between HT males and the control group (C > T, p = 0.028) and between all GD patients and healthy children (C > T, p = 0.035) as well as GD females and controls (C > T, p = 0.018). Moreover, the C/T genotype was less frequent in GD patients at rs6897932 locus and in HT males at rs1010601 locus. The presence of the T allele in the IL7R (rs6897932) locus appears to have a protective effect against HT in males and GD in all children. Similarly, the presence of the T allele in the CAPSL locus (rs1010601) seems to reduce the risk of HT development in all patients.

A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.

BACKGROUND: Ischemic stroke in young adults can be caused by a variety of etiologies including the monogenic disorders. Visceral heterotaxy is a condition caused by abnormal left-right determinations during embryonic development. We aimed to determine the cause of a young ischemic stroke patient with visceral heterotaxy. CASE PRESENTATION: We performed neurological, radiological, and genetic evaluations in a 17-year-old male patient presenting ischemic stroke and visceral heterotaxy to determine the underlying cause of this rare disease combination. Brain magnetic resonance imaging (MRI) showed evidence of embolic stroke, abdominal computed tomography (CT) showed visceral heterotaxy, and echocardiogram showed cardiac anomaly with right-to-left-shunt (RLS). Whole genome sequencing (WGS) revealed a heterozygous missense variant (NM_018055.5: c.1016 T > C, p.(Met339Val)) in the NODAL gene, which is essential to the determination of the left-right body axis. CONCLUSIONS: Our study highlights the importance of evaluating genetic etiology in young ischemic stroke and the need for stroke risk management in visceral heterotaxy patients with RLS. To the best of our knowledge, we report the first genetically-confirmed case of visceral heterotaxy with young embolic stroke reported to date.

Change in general and domain-specific physical activity during the transition from primary to secondary education: a systematic review.

BACKGROUND: Knowledge of changes in the domains of physical activity (PA) during the transition period from primary to secondary education and the factors associated with these changes, are prerequisites for the design of effective PA promotion strategies. Therefore, the first aim of this study was to systematically review changes in general, leisure-time, school, transport, work, and home PA across the transition from primary to secondary education. The second aim was to systematically review the individual, social, and physical environmental factors that were associated with these changes. METHODS: Records published up until September 2023 were retrieved from five electronic databases. We included longitudinal and cross-sectional studies that investigated general or domain-specific PA from 2 years before to 2 years after the transition from primary to secondary education. Information on source, study characteristics, sample characteristics, PA, and factors were extracted from the papers included. We reported the direction of change in general and domain-specific PA and the direction of association of the factors with change in general and domain-specific PA. RESULTS: Forty-eight papers were included in the study. The evidence on changes in PA and associated factors was greatest for general PA. A limited number of the studies investigated the separate domains of leisure-time, school, and transport. Most studies on general and school PA reported a decline in PA, but there were no consistent results for the domains of leisure-time and transport. With respect to the associated factors, evidence was predominantly found for individual factors and to a lesser degree for physical environmental and social environmental factors. None of the factors were consistently associated with changes in general or domain-specific PA during the school transition. CONCLUSIONS: For the design of targeted PA promotion strategies, further studies are warranted to explore changes in the specific domains of PA across the transition from primary to secondary education, especially in the domains of leisure-time, transport, home, and work PA. In addition, the interactions between factors at different socioecological levels to influence changes in PA need to be addressed more in the future. TRIAL REGISTRATION: PROSPERO CRD42020190204.

The role of peer social relationships in psychological distress and quality of life among adolescents with type 1 diabetes mellitus: a longitudinal study.

BACKGROUND: Adolescents with type 1 diabetes mellitus suffer from diabetes distress and poor health-related quality of life (HRQOL) since living with the condition that differentiates them from their peers. The present study investigated the effects of peer support and stress on diabetes distress and HRQOL and whether positive coping mediated the effects. METHODS: We used a prospective study design. A total of 201 adolescents with type 1 diabetes mellitus from 20 cities in 4 provinces were recruited.Participants complete two separate surveys at approximately 18-month intervals. The scales employed at both Time 1 and Time 2 included the Diabetes-Specific Peer Support Measure, Diabetes Stress Questionnaire for Youths, Simplified Coping Style Questionnaire, 5-item Problem Areas in Diabetes Scale, and the Diabetes Quality of Life for Youth scale. RESULTS: Baseline peer stress directly predicted diabetes distress and HRQOL at 18 months, even controlling for age, gender, and peer support. However, the direct effect of baseline peer support on 18-month diabetes distress and HRQOL was insignificant. Baseline peer support indirectly affected diabetes distress and HRQOL at 18 months through positive coping, indicating that positive coping plays a mediating role. CONCLUSION: The findings suggest that peer social relationships, especially peer stress, and positive coping are promising intervention targets for adolescents facing challenges in psychosocial adaptation.

#junkfluenced: the marketing of unhealthy food and beverages by social media influencers popular with Canadian children on YouTube, Instagram and TikTok.

BACKGROUND: Marketing of unhealthy foods to children on digital media significantly impacts their dietary preferences and contributes to diet-related noncommunicable diseases. Canadian children spend a significant amount of time on digital devices and are frequently exposed to unhealthy food marketing on social media, including by influencers with celebrity status who endorse products. This study aimed to examine the frequency, healthfulness, and power of unhealthy food marketing in posts by influencers popular with Canadian children on YouTube, Instagram and TikTok. METHODS: The top 9 influencers popular amongst Canadian children aged 10-12 years were identified from the 2021 International Food Policy Study Youth Survey. A total of 2,232 Instagram, YouTube and TikTok posts made by these influencers between June 1st 2021 and May 31st 2022 were examined for instances of food marketing. Food products/brands were identified and frequencies were calculated for the number of posts promoting food products/brands, posts promoting products/brands classified as less healthy according to Health Canada's Nutrient Profile Model (2018) and marketing techniques utilized. RESULTS: YouTube had the highest average rate of food marketing instances per post, at a rate of 1 food marketing instance every 0.7 posts, while TikTok and Instagram had instances every 10.2 posts and 19.3 posts, respectively. Overall, fast food restaurants was the most promoted food category (21%), followed by regular soft drinks (13%), snacks (11%), candy and chocolate (11%) and water (8%). The most frequently used marketing techniques were appeals to fun/cool (37%), the use of songs or music (28%) and the product being consumed (25%). In terms of healthfulness, 83% of the products/brands (87% of brands and 82% of products) promoted were classified as less healthy. CONCLUSIONS: Social media influencers play a substantial role in promoting unhealthy food products to children, primarily fast food items. Given the significant impact of such marketing on children, there is a need for ongoing government-led monitoring, and it is crucial to include social media and influencer marketing in marketing restrictions targeting children in Canada to safeguard this vulnerable demographic.

Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal complaints, and dermatologic manifestations. FD may ultimately progress to renal, neurologic, and cardiac dysfunction. Current treatments for FD have significantly improved the management and outcomes for patients with FD, but important clinical and convenience limitations still exist. METHODS: To illuminate the impact of FD on daily life from the patient's perspective, we asked adult patients (≥ 18 years old) with FD in the United States and Canada to complete a 33-question online survey to assess patient-reported disease severity, management, and treatment outcomes. RESULTS: A total of 280 respondents with FD completed the survey; they had a mean age of 47 years, and 68% (191/280) were women. Most were currently receiving FD treatment (84%, 234/280) with enzyme replacement therapy (ERT) (89%, 208/234) or chaperone therapy (11%, 26/234). Common symptoms included low energy/fatigue (72%, 201/280), tingling (62%, 174/280) or pain in the hands/feet (60%, 168/280), ringing in ears/hearing loss (54%, 151/280), general body pains/pain crises (51%, 143/280), and abdominal/stomach pain (50%, 140/280). More than half (51%, 144/280) of respondents reported their symptoms as bothersome (38%, 106/280) or difficult to control (14%, 38/280). Temporary symptom worsening between infusions was reported by about half of respondents: 51% (108/211) currently receiving ERT and 48% (14/29) previously receiving ERT. Only 48% (59/122) of respondents reported their symptom worsening to their physician. Of those who reported it, 41% (24/59) said that their physician prescribed medication to manage their symptoms or changed their treatment regimen. CONCLUSIONS: Our analysis highlights the gap between current standard-of-care in disease monitoring and patient perception of disease progression among patients with FD. This information may be helpful for healthcare providers and drug developers seeking to improve the care of patients with FD by addressing unmet needs of high relevance.