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Within Xenarthra (Eocene-Recent), Folivora developed (late Eocene-Recent) a remarkable diversity with respect to ecology and taxonomy over its evolutionary history. Knowledge of the diversity achieved by members of this clade in high-altitude areas of South America (i.e., Altiplano and Puna regions of Peru, Bolivia, and northwestern Argentina) has been improved in recent decades. A particular example involves the late Neogene Mylodontidae Simomylodon uccasamamensis, known mostly from multiple specimens recovered from the Bolivian Altiplano. Although several anatomical descriptions of this ground sloth have been published, almost nothing is known about its ontogenetic development and the associated morphological changes. Here we describe and compare new specimens of S. uccasamamensis from the upper level of the Tafna Formation (Pliocene) in the eastern Puna (ca. 3800 masl), Argentina, representing the southernmost record of this species. The new material is represented by specimens showing different ontogenetic stages, from infant to adult. One subadult specimen reached an estimated body mass of ca. 232 kg. The comparative study of external and internal morphology (the latter obtained from CT scans and radiography) shows remarkable changes in the mandible and molariforms associated with ontogeny; in addition, evidence suggests that the mfs2-3 are the first functional teeth, followed by mf1 and cf1. Based on our body mass estimates (ca. 232 kg.), we inferred an average lifespan of 14 years, 9-month gestation time, and sexual maturation at 4.1 years, quite similar to the values we obtained based on estimated body masses of adult specimens from Bolivia published by previous authors. Along its latitudinal distribution (ca. 14° S-21° S) S. uccasamamensis co-occurred with other ground sloths (e.g., Megatheriinae, Thalassocninae, and Scelidotheriinae), suggesting niche partitioning. The presence of this medium-sized ground sloth is consistent with the similarity between the faunas of eastern Puna and the Bolivian Altiplano during the Pliocene, which is also concordant with what was observed in other clades, such as Rodentia and Notoungulata.

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Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF-containing fibulin-like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult-onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non-p.Arg345Trp EFEMP1 pathogenic allele.

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[This corrects the article DOI: 10.3389/fpsyg.2023.1194294.].

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Modern insects have inhabited the earth for hundreds of millions of years, and part of their successful adaptation lies in their many reproductive strategies. Insect reproduction is linked to a high metabolic rate that provides viable eggs in a relatively short time. In this context, an accurate interplay between the endocrine system and the nutrients synthetized and metabolized is essential to produce healthy offspring. Lipids guarantee the metabolic energy needed for egg formation and represent the main energy source consumed during embryogenesis. Lipids availability is tightly regulated by a complex network of endocrine signals primarily controlled by the central nervous system (CNS) and associated endocrine glands, the corpora allata (CA) and corpora cardiaca (CC). This endocrine axis provides hormones and neuropeptides that significatively affect tissues closely involved in successful reproduction: the fat body, which is the metabolic center supplying the lipid resources and energy demanded in egg formation, and the ovaries, where the developing oocytes recruit lipids that will be used for optimal embryogenesis. The post-genomic era and the availability of modern experimental approaches have advanced our understanding of many processes involved in lipid homeostasis; therefore, it is crucial to integrate the findings of recent years into the knowledge already acquired in the last decades. The present chapter is devoted to reviewing major recent contributions made in elucidating the impact of the CNS/CA/CC-fat body-ovary axis on lipid metabolism in the context of insect reproduction, highlighting areas of fruitful research.

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Introduction: Polyarticular juvenile idiopathic arthritis (pJIA) is a childhood-onset autoimmune disease. Immune cells contribute to persistent inflammation observed in pJIA. Despite the crucial role of monocytes in arthritis, the precise involvement of classical monocytes in the pathogenesis of pJIA remains uncertain. Here, we aimed to uncover the transcriptomic patterns of classical monocytes in pJIA, focusing on their involvement in disease mechanism and heterogeneity. Methods: A total of 17 healthy subjects and 18 premenopausal women with pJIA according to ILAR criteria were included. Classical monocytes were isolated, and RNA sequencing was performed. Differential expression analysis was used to compare pJIA patients and healthy control group. Differentially expressed genes (DEGs) were identified, and gene set enrichment analysis (GSEA) was performed. Using unsupervised learning approach, patients were clustered in two groups based on their similarities at transcriptomic level. Subsequently, these clusters underwent a comparative analysis to reveal differences at the transcriptomic level. Results: We identified 440 DEGs in pJIA patients of which 360 were upregulated and 80 downregulated. GSEA highlighted TNF-α and IFN-γ response. Importantly, this analysis not only detected genes targeted by pJIA therapy but also identified new modulators of immuno-inflammation. PLAUR, IL1B, IL6, CDKN1A, PIM1, and ICAM1 were pointed as drivers of chronic hyperinflammation. Unsupervised learning approach revealed two clusters within pJIA, each exhibiting varying inflammation levels. Conclusion: These findings indicate the pivotal role of immuno-inflammation driven by classical monocytes in pJIA and reveals the existence of two subclusters within pJIA, regardless the positivity of rheumatoid factor and anti-CCP, paving the way to precision medicine.

Asunto(s)

Artritis Juvenil , Perfilación de la Expresión Génica , Inflamación , Monocitos , Transcriptoma , Adulto , Niño , Femenino , Humanos , Anticuerpos Antiproteína Citrulinada , Artritis Juvenil/clasificación , Artritis Juvenil/genética , Artritis Juvenil/inmunología , Artritis Juvenil/patología , Estudios de Casos y Controles , Enfermedad Crónica , Análisis por Conglomerados , Inflamación/genética , Inflamación/inmunología , Inflamación/patología , Mediadores de Inflamación/inmunología , Interferón gamma/inmunología , Monocitos/inmunología , Monocitos/metabolismo , Fenotipo , Medicina de Precisión , Premenopausia , Unión Proteica , Mapas de Interacción de Proteínas , Factor Reumatoide , Análisis de Secuencia de ARN , Transcriptoma/genética , Factor de Necrosis Tumoral alfa/inmunología , Aprendizaje Automático no Supervisado

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BACKGROUND: Juvenile idiopathic arthritis (JIA) comprises a whole spectrum of chronic arthritis starting before 16 years of age. The study aims to explore the clinical and demographic descriptors, treatment, and disease progression of enthesitis-related arthritis (ERA) in comparison with juvenile-onset spondyloarthritis (SpA). METHODS: Cross-sectional analysis of consecutive patients in two dedicated clinics, with a single visit and retrospective case-notes review. Arthritis, enthesitis and sacroiliitis were evaluated by scoring disease activity and damage. Continuous variables were reported by median, interquartile range; categorical variables were reported by the frequency comparison of the two groups. RESULTS: Thirty-three cases were included, being 23 (69.7%) with ERA. The median age at diagnosis was 12.5 y (SpA) vs. 9 y (ERA) (p < 0.01); the time from symptom onset to diagnosis was 5.5 y (SpA) vs. 1.5 y (ERA) (p < 0.03). In both groups, the predominant presentation was a single joint or < 5 lower limb joints and asymmetric involvement, with a high frequency of enthesitis. There was a higher frequency of mid-tarsal and ankle synovitis in the ERA group and hip involvement in those with SpA. The comparison of the frequency of spine symptoms at presentation, 30% SpA vs. 21.7% ERA (p = 0.7), was not significant, and radiographic progression to spinal involvement occurred in 43.5% of ERA patients. The median time for spinal progression and age at onset was 2.2 and 12 y for ERA, and 4 and 16.5 y for SpA, respectively. Activity and damage scores were not significantly different between the groups. Treatment comparison resulted in 91.3% of ERA and 100% SpA being treated, predominantly with NSAIDs in both groups, followed by DMARDs and biologics, with a higher frequency of biologics in SpA. CONCLUSION: The main differences were the late diagnoses of SpA, and the hip and spine involvement, with higher frequency of biologic treatment in juvenile-onset SpA compared to ERA.

Asunto(s)

Antirreumáticos , Artritis Juvenil , Progresión de la Enfermedad , Espondiloartritis , Humanos , Estudios Transversales , Artritis Juvenil/complicaciones , Artritis Juvenil/tratamiento farmacológico , Artritis Juvenil/diagnóstico , Niño , Adolescente , Femenino , Masculino , Estudios Retrospectivos , Espondiloartritis/complicaciones , Espondiloartritis/tratamiento farmacológico , Espondiloartritis/diagnóstico , Antirreumáticos/uso terapéutico , Entesopatía/etiología , Entesopatía/diagnóstico por imagen , Sacroileítis/diagnóstico por imagen , Edad de Inicio , Adulto

RESUMEN

The care of adolescents in reclusion has been a field of work for occupational therapists in different parts of the world. The objective of this study was to describe and analyze Brazilian occupational therapists' practices with adolescents in reclusion. Research conducted in Brazil, identifying 56 professionals, invited to answer a questionnaire (n = 43); participate in discussion groups (n = 9); and interview (n = 4). Professionals reported different visions that guide their practices, including the identification of individual skills and the profession's possibilities for social action. Occupational therapists have specificities to work in these institutions, highlighting the possibilities of acting with a focus on social change. Practices in occupational therapy can lead to social change if focused on social issues. Social occupational therapy offers theoretical and methodological elements that inform the profession. Reflections on the practice carried out, according to a critical perspective, enable a performance in occupational therapy that intends social change.

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OBJECTIVE: The objective was to describe and analyze the practice of occupational therapists in custodial units of the Brazilian juvenile justice system. METHODOLOGY: Mapping and identification of occupational therapists in institutions of juvenile incarceration; questionnaire; workshops; semi-structured interviews; and synthesis meeting. RESULTS AND DISCUSSION: Forty-three professionals with diverse practices participated in this study. The collected data in the different stages of the research were analyzed based on social occupational therapy. CONCLUSION: Occupational therapy practices can lead to social change if focused on social issues. Social occupational therapy offers theoretical and methodological elements for that.

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Occupational Therapy and Imprisoned Adolescents: An Analysis of Professional PracticesIntroduction: In Brazil, the number of adolescents convicted of infractions is increasing. Judicial sanctions may be imposed on this population, including imprisonment. There are occupational therapists working with these adolescents, but their practices are little recorded and debated.

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Background: Lupus pathogenesis is mainly ascribed to increased production and/or impaired clearance of dead cell debris. Although self-reactive T and B lymphocytes are critically linked to lupus development, neutrophils, monocytes, and natural killer (NK) cells have also been implicated. This study assessed apoptosis-related protein expressions in NK cells of patients with juvenile-onset systemic lupus erythematosus (jSLE) and relations to disease activity parameters, nephritis, and neuropsychiatric involvement. Methods: Thirty-six patients with jSLE, 13 juvenile dermatomyositis (JDM) inflammatory controls, and nine healthy controls had Fas, FasL, TRAIL, TNFR1, Bcl-2, Bax, Bim, and caspase-3 expressions in NK cells (CD3-CD16+CD56+) simultaneously determined by flow cytometry. Disease activity parameters included Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) score, erythrocyte sedimentation rate, C-reactive protein level, anti-double strain DNA antibody level, complement fractions C3 and C4 levels. Results: Patients with jSLE had a profile of significantly reduced expression of TRAIL, Bcl-2, and TNFR1 proteins in NK cells when compared to healthy controls. Similar profile was observed in patients with jSLE with active disease, positive anti-dsDNA, nephritis, and without neuropsychiatric involvement. Patients with jSLE with positive anti-dsDNA also had reduced expression of Bax in NK cells when compared healthy controls and to those with negative anti-dsDNA. Yet, patients with jSLE with negative anti-dsDNA had reduced mean fluorescence intensity (MFI) of Bim in NK cells compared to healthy controls. Patients with jSLE with nephritis also had reduced MFI of Fas in NK cells when compared to those without nephritis. In addition, in patients with jSLE, the proportion of FasL-expressing NK cells directly correlated with the SLEDAI-2K score (rs = 0.6, p = 0.002) and inversely correlated with the C3 levels (rs = -0.5, p = 0.007). Moreover, patients with jSLE had increased NK cell percentage and caspase-3 protein expression in NK cells when compared to JDM controls. Conclusion: This study extends to NK cells an altered profile of TRAIL, Bcl-2, TNFR1, Fas, FasL, Bax, Bim, and caspase-3 proteins in patients with jSLE, particularly in those with active disease, positive anti-dsDNA, nephritis, and without neuropsychiatric involvement. This change in apoptosis-related protein expressions may contribute to the defective functions of NK cells and, consequently, to lupus development. The full clarification of the role of NK cells in jSLE pathogenesis may pave the way for new therapies like those of NK cell-based.

Asunto(s)

Dermatomiositis , Lupus Eritematoso Sistémico , Nefritis Lúpica , Humanos , Anticuerpos Antinucleares , Apoptosis , Proteína X Asociada a bcl-2 , Caspasa 3 , Dermatomiositis/complicaciones , Células Asesinas Naturales , Receptores Tipo I de Factores de Necrosis Tumoral

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In 2007, Mexico implemented a strategy to combat drug trafficking through military intervention, after which a significant increase in homicides, mainly among young men, was observed and linked to structural problems as well as organized crime, especially the recruitment of youth, with adolescents being particularly vulnerable. Through a systematic review of the literature from 2013 to 2022, we have compiled the reported factors influencing the recruitment of adolescents by organized crime in Mexico and conducted a metasynthesis of the data according to the multiple levels that affect adolescents: individual, family, community, cultural, and social. This research has shown that many of the factors reported are interrelated and need to be studied holistically. In addition, many of the factors are common to other forms of juvenile delinquency, but the main difference is the presence of organized crime itself in the community and culture.

RESUMEN

Microplastics, considered emerging environmental contaminants resulting from plastic degradation, are discovered in diverse aquatic ecosystems and can be unintentionally ingested by fish. Therefore, it is essential to characterize their interaction with other contaminants, such as agrochemicals, in aquatic environments. This study aimed to assess histological, enzymatic, and genotoxic biomarkers in juvenile pacú (Piaractus mesopotamicus) exposed to polyethylene (PE) microplastic particles and the herbicide atrazine, individually or combined, for 15 days. Four treatments were used: a negative control (CON), PE in the fish diet (0.1% w/w, FPE), atrazine through water (100 µg L-1, ATZ), and the mixture (ATZ+FPE). Results confirmed histological alterations in gills (edema and lamellar fusion) and liver (necrotic areas and congestion) of fish exposed to ATZ and ATZ+FPE. The number of goblet cells increased in the posterior intestine of fish under ATZ+FPE compared to CON and FPE. Enzyme activities (CAT, GST, AChE, and BChE) significantly increased in ATZ+FPE compared to CON. However, no genotoxic effect was demonstrated. These findings provide insights into the complex impacts of simultaneous exposure to atrazine and microplastics, emphasizing the need for continued research to guide effective environmental management strategies against these contaminants that represent a risk to aquatic organisms.

Asunto(s)

Atrazina , Microplásticos , Contaminantes Químicos del Agua , Atrazina/toxicidad , Microplásticos/toxicidad , Animales , Contaminantes Químicos del Agua/toxicidad , Branquias/efectos de los fármacos

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Telangiectasia Hemorrágica Hereditaria , Humanos , Telangiectasia Hemorrágica Hereditaria/complicaciones , Telangiectasia Hemorrágica Hereditaria/diagnóstico , Poliposis Intestinal/congénito , Poliposis Intestinal/diagnóstico , Poliposis Intestinal/complicaciones , Poliposis Intestinal/genética , Malformaciones Arteriovenosas Intracraneales/complicaciones , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Síndromes Neoplásicos Hereditarios/complicaciones , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/diagnóstico por imagen , Síndromes Neoplásicos Hereditarios/diagnóstico , Adulto , Masculino , Femenino , Angiografía Cerebral

RESUMEN

Juvenile idiopathic arthritis is a heterogeneous group of diseases characterized by arthritis with poorly known causes, including monogenic disorders and multifactorial etiology. 22q11.2 proximal deletion syndrome is a multisystemic disease with over 180 manifestations already described. In this report, the authors describe a patient presenting with a short stature, neurodevelopmental delay, and dysmorphisms, who had an episode of polyarticular arthritis at the age of three years and eight months, resulting in severe joint limitations, and was later diagnosed with 22q11.2 deletion syndrome. Investigation through Whole Genome Sequencing revealed that he had no pathogenic or likely-pathogenic variants in both alleles of the MIF gene or in genes associated with monogenic arthritis (LACC1, LPIN2, MAFB, NFIL3, NOD2, PRG4, PRF1, STX11, TNFAIP3, TRHR, UNC13DI). However, the patient presented 41 risk polymorphisms for juvenile idiopathic arthritis. Thus, in the present case, arthritis seems coincidental to 22q11.2 deletion syndrome, probably caused by a multifactorial etiology. The association of the MIF gene in individuals previously described with juvenile idiopathic arthritis and 22q11.2 deletion seems unlikely since it is located in the distal and less-frequently deleted region of 22q11.2 deletion syndrome.

Asunto(s)

Artritis Juvenil , Síndrome de DiGeorge , Secuenciación Completa del Genoma , Humanos , Artritis Juvenil/genética , Masculino , Síndrome de DiGeorge/genética , Oxidorreductasas Intramoleculares/genética , Preescolar , Factores Inhibidores de la Migración de Macrófagos/genética , Niño

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Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a predilection for the head and neck region. This article illustrates a case of congenital JXG in a 5-month-old boy, characterized by a solitary, well-circumscribed nodule above the left upper lip. Histopathologically, the lesion exhibited histiocytes with eosinophilic cytoplasm and Touton giant cells. Immunohistochemistry revealed histiocytes positive for CD68 and Factor XIIIa, while negative for S-100 protein. Clinicians should become familiar with the broad clinical spectrum of cutaneous JXG, particularly its congenital presentation, in order to ensure timely and accurate management.

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Xantogranuloma Juvenil , Humanos , Xantogranuloma Juvenil/patología , Xantogranuloma Juvenil/congénito , Masculino , Lactante

RESUMEN

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.

Asunto(s)

Enfermedades Autoinmunes , Linfohistiocitosis Hemofagocítica , Síndrome de Activación Macrofágica , Niño , Humanos , Síndrome de Activación Macrofágica/diagnóstico , Síndrome de Activación Macrofágica/etiología , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/complicaciones , Enfermedades Autoinmunes/complicaciones , Diagnóstico Diferencial

RESUMEN

OBJECTIVES: To understand the burden associated with pediatric chronic pain (CP) on the health care system compared with other costly chronic diseases prior to subspecialty care. STUDY DESIGN: In this retrospective cohort study, we assessed all-cause health care utilization and direct health care costs associated with pediatric CP (n = 91) compared with juvenile arthritis (n = 135), inflammatory bowel disease (n = 90), type 1 diabetes (n = 475) or type 2 diabetes (n = 289), anxiety (n = 7193), and controls (n = 273) 2 and 5 years prior to patients entering subspecialty care in Manitoba, Canada. Linked data from physician encounters, emergency department visits, hospitalizations, and prescriptions were extracted from administrative databases. Differences in health care utilization and direct health care costs associated with CP vs the other conditions were tested using negative binomial and zero-inflated negative binomial regression models, respectively. RESULTS: After adjustment for age at diagnosis, sex, location of residence, and socioeconomic status, CP continued to be associated with the highest number of consulted physicians and subspecialists and the highest number of physician billings compared with all other conditions (P < .01, respectively). CP was significantly associated with higher physician costs than juvenile arthritis, inflammatory bowel disease, type 1 diabetes, type 2 diabetes, or controls (P < .01, respectively); anxiety was associated with the highest physician and prescription costs among all cohorts (P < .01, respectively). CONCLUSION: Compared with chronic inflammatory and endocrinologic conditions, pediatric CP and anxiety were associated with substantial burden on the health care system prior to subspecialty care, suggesting a need to assess gaps and resources in the management of CP and mental health conditions in the primary care setting.

Asunto(s)

Dolor Crónico , Costos de la Atención en Salud , Aceptación de la Atención de Salud , Humanos , Niño , Masculino , Femenino , Estudios Retrospectivos , Costos de la Atención en Salud/estadística & datos numéricos , Adolescente , Dolor Crónico/economía , Dolor Crónico/terapia , Preescolar , Aceptación de la Atención de Salud/estadística & datos numéricos , Diabetes Mellitus Tipo 1/terapia , Diabetes Mellitus Tipo 1/economía , Estudios de Cohortes , Enfermedad Crónica , Manitoba , Enfermedades Inflamatorias del Intestino/terapia , Enfermedades Inflamatorias del Intestino/economía , Diabetes Mellitus Tipo 2/terapia , Diabetes Mellitus Tipo 2/economía , Artritis Juvenil/economía , Artritis Juvenil/terapia , Ansiedad/epidemiología

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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)

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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)

Asunto(s)

Humanos , Femenino , Persona de Mediana Edad , Tumor de Células de la Granulosa/diagnóstico por imagen , Examen Físico

RESUMEN

The high prevalence of psychiatric symptoms among juvenile delinquents is a well-replicated international finding. This study aimed to find the prevalence of mood disorders and their relationship with serious criminal acts in a population of adolescents in conflict with the law and in custody. A total of 123 male inmates aged 14 to 17 years were interviewed and assessed. Mood disorders were diagnosed in 15% of the sample for current episode and 31% for lifetime, making them third most prevalent after dependence disorders and disruptive disorders. The psychopathological profile of the adolescents who had committed violent crimes corroborates other studies reporting a high prevalence of mood disorders in this population. Several factors have been found to influence the formation of juvenile delinquency, including absence of family structure, social inequality, lack of quality school education, alcohol and drug abuse/addiction and disruptive disorders. The present results confirm mood disorders as another such factor.

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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.

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Esclerosis Amiotrófica Lateral , Humanos , Esclerosis Amiotrófica Lateral/diagnóstico , Esclerosis Amiotrófica Lateral/genética , Neuronas Motoras , Neuroimagen

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 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.

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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.

Asunto(s)

Reumatología , Modalidades de Fisioterapia

RESUMEN

Farnesol, a sesquiterpene found in all eukaryotes, precursor of juvenile hormone (JH) in insects, is involved in signalling, communication, and antimicrobial defence. Farnesol is a compound of floral volatiles, suggesting its importance in pollination and foraging behaviour. Farnesol is found in the resin of Baccharis dracunculifolia, from which honeybees elaborate the most worldwide marketable propolis. Bees use propolis to seal cracks in the walls, reinforce the wax combs, and as protection against bacteria and fungi. The introduction within a honeybee hive of a compound with potential hormonal activity can be a challenge to the colony survival, mainly because the transition from within-hive to outside activities of workers is controlled by JH. Here, we tested the hypothesis that exogenous farnesol alters the pacing of developing workers. The first assays showed that low doses of the JH precursor (0.1 and 0.01 µg) accelerate pharate-adult development, with high doses being toxic. The second assay was conducted in adult workers and demonstrated bees that received 0.2 µg farnesol showed more agitated behaviour than the control bees. If farnesol was used by corpora allata (CA) cells as a precursor of JH and this hormone was responsible for the observed behavioural alterations, these glands were expected to be larger after the treatment. Our results on CA measurements after 72 h of treatment showed bees that received farnesol had glands doubled in size compared to the control bees (p < 0.05). Additionally, we expected the expression of JH synthesis, JH degradation, and JH-response genes would be upregulated in the treated bees. Our results showed that indeed, the mean transcript levels of these genes were higher in the treated bees (significant for methyl farnesoate epoxidase and juvenile hormone esterase, p < 0.05). These results suggest farnesol is used in honeybees as a precursor of JH, leading to increasing JH titres, and thus modulating the pacing of workers development. This finding has behavioural and ecological implications, since alterations in the dynamics of the physiological changes associated to aging in young honeybees may significantly impact colony balance in nature.

Asunto(s)

Hormonas Juveniles , Própolis , Abejas , Animales , Hormonas Juveniles/metabolismo , Farnesol , Resinas de Plantas , Insectos/metabolismo