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.
To assess the presence of restless legs syndrome, periodic leg movement, and sleep disorders in female adolescents with idiopathic musculoskeletal pain through a sleep scale and polysomnography, and ...to compare these data in adolescents without pain history.
Twenty-six adolescents diagnosed with idiopathic musculoskeletal pain followed in a pain outpatient clinic and 25 healthy controls matched by age and education were recruited. The restless legs syndrome criteria were evaluated according to the International Restless Legs Syndrome Study Group, the Sleep Disturbance Scale for Children was completed, nocturnal polysomnography was performed, and anxiety symptoms were recorded.
The mean age of idiopathic musculoskeletal pain adolescents was 13.9±1.6 years; in controls, it was 14.4±1.4 years. One adolescent in the control group (4 %) and nine patients with idiopathic musculoskeletal pain (34.6 %) fulfilled the restless legs syndrome criteria (p=0.011). The authors did not observe significant differences in Sleep Disturbance Scale for Children scores between the groups in all components: disorders of initiating and maintaining sleep (p=0.290), sleep breathing disorders (p=0.576), disorders of arousal (p=0.162), sleep-wake transition disorders (p=0.258), disorder of excessive daytime somnolence (p=0.594), and sleep hyperhidrosis (p=0.797). The neurophysiological, respiratory, and periodic leg movement parameters were similar in both groups. Having anxiety was not associated with restless legs syndrome (p=0.11). Three patients with idiopathic musculoskeletal pain (11.5 %) presented restless legs syndrome and periodic leg movement simultaneously, which was absent in the control group.
Female adolescents with idiopathic musculoskeletal pain present criteria for RLS more frequently than healthy adolescents. However, this study did not observe relevant changes in objective and subject sleep variables.
Avaliar a presença de síndrome das pernas inquietas, movimento periódico das pernas e distúrbios do sono em adolescentes do sexo feminino com dor musculoesquelética idiopática por meio da escala do sono e da polissonografia e comparar esses dados em adolescentes sem histórico de dor.
Foram recrutados 26 adolescentes diagnosticados com dor musculoesquelética idiopática acompanhados em um ambulatório de dor e 25 controles saudáveis pareados por idade e escolaridade. Avaliamos os critérios da síndrome das pernas inquietas de acordo com o Grupo Internacional de Estudos de Síndrome das Pernas Inquietas, a Escala de Distúrbios do Sono em Crianças, a polissonografia noturna e os sintomas de ansiedade.
A idade média dos adolescentes com dor musculoesquelética idiopática foi 13,9±1,6 anos e dos controles foi 14,4±1,4 anos. Um adolescente no grupo de controle (4%) e nove pacientes com dor musculoesquelética idiopática (34,6%) atenderam aos critérios da síndrome das pernas inquietas (p=0,011). Não observamos diferenças significativas nos escores da Escala de Distúrbios do Sono em Crianças entre os grupos em todos os componentes: distúrbios do início e da manutenção do sono (p=0,290), distúrbios respiratórios do sono (p=0,576), distúrbios do despertar (p=0,162), distúrbios da transição sono-vigília (p=0,258), sonolência diurna excessiva (p=0,594) e hiperidrose do sono (p=0,797). Os parâmetros neurofisiológicos, respiratórios e movimento periódico das pernas foram semelhantes nos dois grupos. Ansiedade não foi associada à síndrome das pernas inquietas (p=0,11). Três pacientes com dor musculoesquelética idiopática (11,5%) apresentaram síndrome das pernas inquietas e movimento periódico das pernas simultaneamente, situação ausente no grupo de controle.
As adolescentes do sexo feminino com dor musculoesquelética idiopática apresentaram critérios para síndrome das pernas inquietas com mais frequência que as adolescentes saudáveis. Contudo, não observamos mudanças relevantes nas variáveis do sono objetivas e subjetivas.
The Henoch-Schönlein Purpura (HSP) orIgA vasculitis is the most common vasculitis of childhood and may occur with renal involvement, with hematuria and / or proteinuria, and may cause severe and ...non-reversible sequelae.
To establish the profile of patients with renal involvement due to IgA vasculitisand to describe our experience with the use of azathioprine to treat patients with nephritis.
Clinical data were retrospectively collected from medical records of patients with IgA vasculitiswho attended the pediatric rheumatology unit between 1995 and 2017. Patients were separated into two groups based on whether or notthey weretreated with non-glucocorticoid immunosuppressants.
From the178 patients with IgA vasculitis,nephritis was found in67 patients (37.6%), 13 of whom receivedtreatment with non-glucocorticoid immunosuppressants. Ten patients responded well to azathioprine and 1 patient to cyclosporine. Forty patients received oral glucocorticoids, whilst 16received intravenous glucocorticoids.
Azathioprine may be beneficial in the treatment of IgA vasculitis with renal involvement.
RESUMO Objetivo: Mensurar e comparar a dor musculoesquelética em pacientes com fibromialgia juvenil (FMJ) e em pacientes com artrite idiopática juvenil poliarticular (AIJ); e avaliar e comparar a ...percepção e o enfrentamento da dor. Métodos: Foram avaliados, em estudo transversal, 150 crianças e adolescentes (e seus respectivos pais), divididos em três grupos: FMJ, AIJ e controles saudáveis. A mensuração e o enfrentamento da dor foram realizados por meio de instrumentos específicos. Para a avaliação da percepção da dor, desenvolveram-se três vinhetas com simulação de situações que pudessem gerar dor: aplicação de injeção, queda de bicicleta e isolamento social. Os pais e os pacientes responderam individualmente quanto à percepção da dor em cada situação. Resultados: As maiores notas de dor, os menores escores de enfrentamento da dor, as maiores notas para a percepção da dor nas vinhetas e os piores índices de qualidade de vida relacionada à saúde foram observados nos pacientes com FMJ, quando comparados aos pacientes com AIJ e aos controles. O mesmo padrão foi observado com os respectivos pais. Conclusões: Pacientes com AIJ e FMJ se comportam diferentemente em relação à percepção da dor e ao desenvolvimento de técnicas para o enfrentamento da dor. A dor deve ser avaliada sob diferentes perspectivas para um planejamento mais individualizado e efetivo do tratamento desses pacientes.
ABSTRACT Objective: To measure and compare musculoskeletal pain in patients with juvenile fibromyalgia (JFM) and polyarticular juvenile idiopathic arthritis (JIA), and to evaluate and compare pain perception and pain coping mechanisms in these patients. Methods: In this cross sectional study, we evaluated 150 children and adolescents, and their respective parents, from 3 different groups: JFM, polyarticular JIA, and healthy controls. Pain intensity and pain coping mechanisms were measured using specific questionnaires. Pain perception was evaluated according to three illustrations simulating situations that might cause pain: a shot, a bicycle fall, and social isolation. The patients’ parents also filled out the questionnaires and provided a pain score that matched their child’s perception of pain for each illustration. Results: The highest pain scores, the lowest pain coping strategy scores, the highest pain perception scores for all three illustrations, and the worse health related to quality of life indicators were observed in the JFM group, when compared to the JIA and control groups. The same pattern was observed with their parents. Conclusions: Patients with JIA and JFM behave differently in relation to pain perception and the development pain coping mechanisms. Pain should be evaluated from different perspectives for an individualized and efficient treatment of patients.
To assess the presence of restless legs syndrome, periodic leg movement, and sleep disorders in female adolescents with idiopathic musculoskeletal pain through a sleep scale and polysomnography, and ...to compare these data in adolescents without pain history.
Twenty‐six adolescents diagnosed with idiopathic musculoskeletal pain followed in a pain outpatient clinic and 25 healthy controls matched by age and education were recruited. The restless legs syndrome criteria were evaluated according to the International Restless Legs Syndrome Study Group, the Sleep Disturbance Scale for Children was completed, nocturnal polysomnography was performed, and anxiety symptoms were recorded.
The mean age of idiopathic musculoskeletal pain adolescents was 13.9 ± 1.6 years; in controls, it was 14.4 ± 1.4 years. One adolescent in the control group (4%) and nine patients with idiopathic musculoskeletal pain (34.6%) fulfilled the restless legs syndrome criteria (p = 0.011). The authors did not observe significant differences in Sleep Disturbance Scale for Children scores between the groups in all components: disorders of initiating and maintaining sleep (p = 0.290), sleep breathing disorders (p = 0.576), disorders of arousal (p = 0.162), sleep‐wake transition disorders (p = 0.258), disorder of excessive daytime somnolence (p = 0.594), and sleep hyperhidrosis (p = 0.797). The neurophysiological, respiratory, and periodic leg movement parameters were similar in both groups. Having anxiety was not associated with restless legs syndrome (p = 0.11). Three patients with idiopathic musculoskeletal pain (11.5%) presented restless legs syndrome and periodic leg movement simultaneously, which was absent in the control group.
Female adolescents with idiopathic musculoskeletal pain present criteria for RLS more frequently than healthy adolescents. However, this study did not observe relevant changes in objective and subject sleep variables.
Avaliar a presença de síndrome das pernas inquietas, movimento periódico das pernas e distúrbios do sono em adolescentes do sexo feminino com dor musculoesquelética idiopática por meio da escala do sono e da polissonografia e comparar esses dados em adolescentes sem histórico de dor.
Foram recrutados 26 adolescentes diagnosticados com dor musculoesquelética idiopática acompanhados em um ambulatório de dor e 25 controles saudáveis pareados por idade e escolaridade. Avaliamos os critérios da síndrome das pernas inquietas de acordo com o Grupo Internacional de Estudos de Síndrome das Pernas Inquietas, a Escala de Distúrbios do Sono em Crianças, a polissonografia noturna e os sintomas de ansiedade.
A idade média dos adolescentes com dor musculoesquelética idiopática foi 13,9 ± 1,6 anos e dos controles foi 14,4 ± 1,4 anos. Um adolescente no grupo de controle (4%) e nove pacientes com dor musculoesquelética idiopática (34,6%) atenderam aos critérios da síndrome das pernas inquietas (p = 0,011). Não observamos diferenças significativas nos escores da Escala de Distúrbios do Sono em Crianças entre os grupos em todos os componentes: distúrbios do início e da manutenção do sono (p = 0,290), distúrbios respiratórios do sono (p = 0,576), distúrbios do despertar (p = 0,162), distúrbios da transição sono‐vigília (p = 0,258), sonolência diurna excessiva (p = 0,594) e hiperidrose do sono (p = 0,797). Os parâmetros neurofisiológicos, respiratórios e o movimento periódico das pernas foram semelhantes nos dois grupos. Ansiedade não foi associada à síndrome das pernas inquietas (p = 0,11). Três pacientes com dor musculoesquelética idiopática (11,5%) apresentaram síndrome das pernas inquietas e movimento periódico das pernas simultaneamente, situação ausente no grupo de controle.
As adolescentes do sexo feminino com dor musculoesquelética idiopática apresentaram critérios para síndrome das pernas inquietas com mais frequência do que as adolescentes saudáveis. Contudo, não observamos mudanças relevantes nas variáveis do sono objetivas e subjetivas.
OBJECTIVES: The aims of this study were to measure levels of sleep, stress, and depression, as well as health-related quality of life, and to assess the neurocognitive profiles in a sample of ...adolescents with idiopathic musculoskeletal pain. METHODS: Nineteen adolescents with idiopathic musculoskeletal pain and 20 age-matched healthy control subjects were evaluated regarding their levels of sleep and stress, as well as quality of life, and underwent neurocognitive testing. RESULTS: The sample groups consisted predominantly of females (84%), and the socioeconomic status did not differ between the two groups. In addition, the occurrence of depressive symptoms was similar between the two groups; specifically, 26% of the idiopathic musculoskeletal pain patients and 30% of the control subjects had scores indicative of depression. Teenagers in the group with idiopathic musculoskeletal pain reported poorer quality of life and sleep scores than those in the control group. Regarding stress, patients had worse scores than the control group; whereas 79% of the adolescents with idiopathic musculoskeletal pain met the criteria for a diagnosis of stress, only 35% of the adolescents in the control group met the criteria. In both groups, we observed scores that classified adolescents as being in the resistance phase (intermediate) and exhaustion phase (pathological) of distress. However, the idiopathic musculoskeletal pain group more frequently reported symptomatic complaints of physical and emotional distress. The neurocognitive assessment showed no significant impairments in either group. CONCLUSION: Adolescents with idiopathic musculoskeletal pain did not exhibit cognitive impairments. However, adolescents with idiopathic musculoskeletal pain did experience intermediate to advanced psychological distress and lower health-related quality of life, which may increase their risk of cognitive dysfunction in the future.
Summary
Childhood and adolescence are crucial periods for healthy bone development throughout life. This study aims to establish normative data for trabecular bone score (TBS) and bone mineral ...density (BMD) measurements using dual-energy X-ray absorptiometry (DXA) in healthy Brazilian children and adolescents.
Purpose
To establish normative data for trabecular bone score (TBS) and bone mineral density (BMD) measurements using dual energy X-ray absorptiometry (DXA) in healthy Brazilian children and adolescents.
Methods
Healthy children and adolescents, aged 5 to 19 years, underwent medical interview, physical examination with anthropometric measurement, pubertal stage evaluation, and bone densitometry by DXA (Hologic QDR 4500). Boys and girls were divided into 2 age groups: 5–9 years old (children) and 10–19 years old (adolescents). BMD and bone mineral content (BMC) were measured following standard procedures. TBS measurements were performed using the TBS Insight ® v3.0.3.0 software.
Results
A total of 349 volunteers were enrolled in this cross-sectional study. Reference values were defined for each group of children and adolescents divided into 3-year age groups. Girls had lower values of TBS compared to boys (1.356 ± 0.116 and 1.380 ± 0.086 respectively,
p
= 0.029). For both boys and girls, BMC and spine BMD measurements were significantly higher in adolescent than in children (
p
= 0.0001;
p
= 0.0001;
p
= 0.0001,
p
= 0.0001, respectively). TBS range increased as pubertal development progressed. In both girls and boys, a 1-year increase in age was associated to a 0.013 increase in TBS. Body mass was a significant determinant for TBS. In girls, a 1 kg/m
2
increase in BMI was associated to an average TBS increase of 0.008.
Conclusion
Our findings reinforce the evidence that TBS varies according to age, sex, and pubertal stage in healthy children and adolescents. This study established reference values for TBS in healthy Brazilian children and adolescents which can be used as normative data for this population.
Mutations in genes coding for proteasome subunits and/or proteasome assembly helpers typically cause recurring autoinflammation referred to as chronic atypical neutrophilic dermatosis with ...lipodystrophy and elevated temperatures (CANDLE) or proteasome-associated autoinflammatory syndrome (PRAAS). Patients with CANDLE/PRAAS present with mostly chronically elevated type I interferon scores that emerge as a consequence of increased proteotoxic stress by mechanisms that are not fully understood. Here, we report on five unrelated patients with CANDLE/PRAAS carrying novel inherited proteasome missense and/or nonsense variants. Four patients were compound heterozygous for novel pathogenic variants in the known CANDLE/PRAAS associated genes,
PSMB8
and
PSMB10
, whereas one patient showed additive loss-of-function mutations in
PSMB8
. Variants in two previously not associated proteasome genes,
PSMA5
and
PSMC5
, were found in a patient who also carried the
PSMB8
founder mutation, p.T75M. All newly identified mutations substantially impact the steady-state expression of the affected proteasome subunits and/or their incorporation into mature 26S proteasomes. Our observations expand the spectrum of PRAAS-associated genetic variants and improve a molecular diagnosis and genetic counseling of patients with sterile autoinflammation.
To measure and compare musculoskeletal pain in patients with juvenile fibromyalgia (JFM) and polyarticular juvenile idiopathic arthritis (JIA), and to evaluate and compare pain perception and pain ...coping mechanisms in these patients.
In this cross sectional study, we evaluated 150 children and adolescents, and their respective parents, from 3 different groups: JFM, polyarticular JIA, and healthy controls. Pain intensity and pain coping mechanisms were measured using specific questionnaires. Pain perception was evaluated according to three illustrations simulating situations that might cause pain: a shot, a bicycle fall, and social isolation. The patients' parents also filled out the questionnaires and provided a pain score that matched their child's perception of pain for each illustration.
The highest pain scores, the lowest pain coping strategy scores, the highest pain perception scores for all three illustrations, and the worse health related to quality of life indicators were observed in the JFM group, when compared to the JIA and control groups. The same pattern was observed with their parents.
Patients with JIA and JFM behave differently in relation to pain perception and the development pain coping mechanisms. Pain should be evaluated from different perspectives for an individualized and efficient treatment of patients.
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