Ultrasonography (US) studies carried out on joints of juvenile idiopathic arthritis (JIA) patients in clinical remission demonstrate the presence of subclinical synovitis. The significance of ...subclinical synovitis and the positive power Doppler (PD) signal on US in JIA in clinical remission is not well understood. The objectives of this study were to assess whether the changes detected by US in patients with JIA in clinical remission can predict disease flare and to evaluate factors associated with flare and joint damage over 30 months of follow-up.
A prospective study was performed with clinical and ultrasound evaluation in 34 joints of JIA patients in clinical remission. Clinical evaluation including physical exam, functional capacity and inflammatory markers was performed at baseline and every six months thereafter, for a total period of 30 months. US evaluation included presence of synovitis, PD signal and erosion at baseline and every 12 months thereafter. Subclinical synovitis was defined when there was synovitis with or without positive PD signal in US joints of patients in clinical remission. Flare was defined as any joint presenting clinical arthritis requiring therapy modification.
We evaluated a total of 35 patients, 28 (80%) girls, 14 (40%) persistent oligoarticular subtype, 12 (34.3%) oligoarticular extended and 9 (25.7%) polyarticular and 26 (74.3%) in remission on medication. Twenty (57.1%) patients flared. The risk of flare was five times higher in patients with positive PD signal and 14 times higher in patients in remission on medication. Regarding the assessment of joints after 6 months and 12 months of US evaluation, 70/3162 (2.2%) joints and 80/2108 (3.8%) joints flared, respectively. Joints with subclinical synovitis with positive PD signal flared more after 6 and 12 months. Twenty five of 2108 (1.2%) joints showed erosion over time. Joints with subclinical synovitis with or without positive PD signal showed more erosion.
Patients in remission on medication with subclinical synovitis with positive PD signal on US have a higher risk of flare, therefore they should be monitored closely during treatment. In the same way, joints with subclinical synovitis with or without positive PD signal should be monitored due to the risk of flare and joint damage.
To translate and validate the Brazilian Portuguese version of the Transition Readiness Assessment Questionnaire in a population of adolescents and young adults with chronic rheumatologic disorders. ...This questionnaire evaluates the patient's readiness for making the transition from the pediatric health service to adult care.
The four-phase methodology for the translation and validation of generic questionnaires was followed, including translation, back-translation, pilot testing and clinical validation of the final tool. The confirmatory factor analysis was used for clinical validation and the Cronbach's alpha coefficient was used to assess the overall internal consistency of the final tool.
A total of 150 patients with a mean age of 17.0 years (SD=2.2 years, range 14–21 years) were enrolled for the final tool validation. Of those, 71 patients had juvenile systemic lupus erythematosus (47.3%), 64 had juvenile idiopathic arthritis (42.7%), and 15 had juvenile dermatomyositis (10%). During the confirmatory factor analysis, the dimension “Talking with providers” consisting of two questions, was considered as not fitting the translated questionnaire due to a very high ceiling effect and was therefore excluded. All other translated items favorably contributed to the overall consistency of the final tool; removing that dimension did not result in a substantial increase in Cronbach's alpha, which was 0.776.
The Brazilian Portuguese version of the Transition Readiness Assessment Questionnaire was validated in a population of transitional patients with chronic rheumatologic disorders, after one dimension from the original questionnaire was excluded. It is a non-specific disease questionnaire; thus, it can be used to evaluate the transition readiness of Brazilian patients with other chronic diseases.
Traduzir para o português brasileiro e validar o Questionário de Avaliação do Preparo para a Transição em uma população de adolescentes e adultos jovens com doenças reumáticas crônicas. Este questionário avalia o preparo do paciente para realizar a transição do serviço de saúde pediátrico para a assistência ao adulto.
Seguimos a metodologia de quatro etapas para a tradução e validação de questionários genéricos que inclui tradução, retrotradução, teste piloto e validação clínica do instrumento final. Utilizamos Análise Fatorial Confirmatória e Coeficiente Alfa de Cronbach para testar a validade do instrumento e sua consistência interna.
Responderam ao questionário traduzido e adaptado 150 pacientes. A média de idade foi de 17,0 anos (DP = 2,2 anos, variação 14-21 anos). Tinham o diagnóstico de lúpus eritematoso sistêmico juvenil 71 pacientes (47,3%), 64 (42,7%) artrite idiopática juvenil e 15 (10%) dermatomiosite juvenil. Durante a análise fatorial confirmatória, a dimensão “Falando com a Equipe Médica” contendo duas questões teve que ser removida devido à presença de expressivo efeito teto. Todas as outras questões restantes contribuíram favoravelmente para aumentar a consistência interna do questionário, obteve-se um Coeficiente Alfa de Cronbach de 0,776.
O Questionário de Avaliação do Preparo para a Transição na sua versão em português brasileiro pode ser validado em uma população de pacientes com doenças reumáticas crônicas em transição, com a exclusão de uma dimensão do questionário original. Por ser um questionário não específico para doenças reumáticas, poderá ser utilizado para avaliar o preparo para a transição de outros pacientes brasileiros com doenças crônicas.
Sideroblastic anaemia, B‐cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been ...reported in 23 cases. A 6‐month‐old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Skin lesions, previously interpreted as insect bites, consisted of numerous firm asymptomatic erythematous papules and nodules, distributed over trunk and limbs. Skin histopathology revealed an intense dermal neutrophilic infiltrate extending to the subcutaneous, with numerous atypical myeloid cells, requiring the diagnosis of leukaemia cutis, to be ruled out. Over the follow‐up, she developed herpetic stomatitis, tonsillitis, lobar pneumonia and Metapneumovirus tracheitis, and also deeper skin lesions, resembling panniculitis. Hypogammaglobulinaemia was diagnosed. An autoinflammatory disease was confirmed by whole exome sequencing: heterozygous mutations for TRNT1 NM_182916 c.495_498del, p.F167Tfs * 9 and TRNT1 NM_182916 c.1246A>G, p.K416E. The patient has been treated with subcutaneous immunoglobulin and etanercept. She presented with developmental delay and short stature for age. The fever, anaemia, skin neutrophilic infiltration and the inflammatory parameters improved. We describe a novel mutation in SIFD and the first to present skin manifestations, namely neutrophilic dermal and hypodermal infiltration.
Objective
This study aimed to assess the safety and immunogenicity of the quadrivalent human papillomavirus (qHPV) vaccination in childhood-onset systemic lupus erythematosus (cSLE) patients.
Methods
...Volunteer cSLE patients aged 9–20 years and healthy controls (HC) were enrolled to receive a two- or three-dose qHPV vaccination schedule from March 2014 to March 2016. Study visits were performed before the first dose, one month after the second and third doses and one year after the first dose. In each study visit, disease activity and adverse events following vaccination were analyzed, and a serum sample was collected for testing antibody concentrations. Participant recruitment was conducted in 15 Brazilian paediatric rheumatology units. Of the 256 cSLE patients included, 210 completed the two- or three-dose schedules; 15 had previously received one dose, and 18 had received two doses of the vaccine. The analysis was based on intention-to-treat so that participants who did not complete the entire study protocol were also included.
Results
No severe adverse events were related to the vaccination. Disease activity was generally low and remained stable or even improved. The HC presented 100% seropositivity to HPV16 and HPV18, whereas the two- and three-dose cSLE groups presented 93% and 83% versus 97% and 91%, respectively. One year after the first dose, seropositivity of the three-dose cSLE group was 91% to HPV16 and 84% to HPV18.
Conclusions
HPV vaccination in cSLE patients is safe and immunogenic. Since the seropositivity to HPV16 and HPV18 was higher for the three-dose schedule group, this regimen should be recommended for cSLE patients.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
The aims of this longitudinal study were to perform a comprehensive clinical evaluation of temporomandibular joint (TMJ) and to investigate the association between the clinical and magnetic resonance ...imaging (MRI) findings in the TMJs of patients with juvenile idiopathic arthritis (JIA). Seventy-five patients with JIA participated in this study. All patients underwent a rheumatological examination performed by a paediatric rheumatologist, a TMJ examination performed by a single dentist and an MRI with contrast of the TMJs. These examinations were scheduled on the same date. The patients were examined again 1 year later. Twenty-eight (37.3 %) patients reported symptoms at the first evaluation and 11 (14.7 %) patients at the second evaluation. In relation to signs, 35 (46.7 %) of the patients presented at least one sign at the first evaluation and 29 (38.7 %) at the second. Intense contrast enhancement of TMJ was significantly associated with disease activity (
p
< 0.001) at the first evaluation and a trend to significance was observed at the second (
p
= 0.056), with poly/systemic subtypes (
p
= 0.028 and
p
= 0.049, respectively), with restricted mouth opening capacity (
p
= 0.013 and
p
= 0.001, respectively), with the presence of erosions at both evaluations (
p
= 0.0001 and
p
< 0.0001, respectively) and with altered condylar shape at the second evaluation (
p
= 0.0005). TMJ involvement is highly prevalent in JIA patients, with asymptomatic children presenting severe structural alterations of the TMJ. The TMJ should always be evaluated in JIA patients, even in the absence of signs and symptoms.
Adherence to treatment for chronic diseases is lower in children than in adults, less extensively studied in children and is associated with multiple related factors. The aim of this study is to ...perform a descriptive analysis of psycho-cognitive aspects of primary caregivers of pediatric patients with chronic rheumatic diseases, as well as socioeconomic and clinical factors, family functioning and treatment satisfaction.
Primary caregivers of 90 patients were included. Pairs (caregiver plus patient) were grouped as presenting good adherence (n = 50) or poor adherence (n = 40) according to the Morisky Adherence Test. Psycho-cognitive aspects were evaluated by Adult Self-Report and Wechsler Adult Intelligence Scale tests. For statistical comparisons, quantitative variables with normal distribution were analyzed by Student's t test, and those with non-Gaussian distribution with the Mann Whitney test. Categorical variables were analyzed by Chi square test. A multivariate logistic regression analysis was performed to estimate the contribution of the independent variables to adherence.
Compared to caregivers in the good adherence group, caregivers in the poor adherence group were more likely to be classified as clinical on the scales for attention problems and externalizing problems, which include impulsiveness and aggressiveness. They also scored higher on the depressive problem scale. In addition, the average number of children per caregiver and the mean age of caregivers and patients were significantly higher in the poor adherence group, while the proportion of caregivers with higher education was lower. The poor adherence group also included a higher incidence of pediatric patients assuming sole responsibility for managing medications. Economic status, clinical factors, treatment satisfaction, family functioning and caregiver cognitive profile were not related to adherence, except for working memory index.
Older patients, patients as the one solely responsible for medication management, and caregivers with externalizing problems, were observed to be the most strongly associated to poor adherence. Interventions aimed at adolescent patients are needed. Also, psychological programs and interventional studies to better determine caregivers' behavioral/emotional status, and parent-child relationships are recommended.
Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of ...postzygotic mutations. Mosaicism has been reported occasionally in patients with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement has not been systematically addressed.
We sought to investigate the incidence of gene mosaicism in patients with PIDs.
The amplicon-based deep sequencing method was used in the 3 parts of the study that establish (1) the allele frequency of germline variants (n = 100), (2) the incidence of parental gonosomal mosaicism in families with PIDs with de novo mutations (n = 92), and (3) the incidence of mosaicism in families with PIDs with moderate-to-high suspicion of gene mosaicism (n = 36). Additional investigations evaluated body distribution of postzygotic mutations, their stability over time, and their characteristics.
The range of allele frequency (44.1% to 55.6%) was established for germline variants. Those with minor allele frequencies of less than 44.1% were assumed to be postzygotic. Mosaicism was detected in 30 (23.4%) of 128 families with PIDs, with a variable minor allele frequency (0.8% to 40.5%). Parental gonosomal mosaicism was detected in 6 (6.5%) of 92 families with de novo mutations, and a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicion of gene mosaicism. In most analyzed cases mosaicism was found to be both uniformly distributed and stable over time.
This study represents the largest performed to date to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enrolled families. Our results might have serious consequences regarding treatment and genetic counseling and reinforce the use of next-generation sequencing–based methods in the routine analyses of PIDs.
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The aim of the study was to describe biomarkers of lipid metabolism associated with increased cardiovascular risk and their correlation with disease variables and markers of inflammation in ...adolescent females with systemic lupus erythematosus (SLE). This cross-sectional controlled study evaluated 33 adolescent females with juvenile SLE and 33 healthy controls. Anthropometric data, SLE disease activity index (SLEDAI), medications, proteinuria, ultra-sensitive C-reactive protein (us-CRP), lipid profile (total cholesterol, LDL-c, HDL-c and triglycerides), apolipoproteins A and B (Apo A-I and B), paraoxonase, and myeloperoxidase were evaluated. Median age of the patients and the median disease duration were 16.7 years and 54 months, respectively. SLEDAI scores above 4 were observed in 11 (33.3 %) patients. Moreover, 12 (36.4 %) patients were overweight, and 5 (15.2 %) had low height for age ratios. Dyslipidemia was observed in 13 (39.4 %) patients and in 7 (21.2 %) controls with a decrease in HDL-c concentrations in SLE patients even after adjustment for their nutritional status. In the group with SLE, us-CRP concentrations were inversely correlated with LDL-c/ApoB ratio (
p
= 0.031). After multivariate regression analysis, the SLE group showed lower concentration of Apo A-I and a decreased LDL-c/ApoB ratio. SLE adolescent females with low disease activity, with preserved kidney function and on low dose of corticosteroids, regardless of nutritional status and food intake, have proatherogenic lipid biomarkers, which may contribute to an increased atherosclerotic risk.
Objectives
To assess nutritional status regarding selenium in adolescents with Juvenile Systemic Lupus Erythematosus (jSLE) and analyze possible associations with disease activity, insulin resistance ...and lipid profile.
Methods
This was an observational, cross-sectional study of 31 female adolescents with jSLE and 31 healthy female volunteers as a comparison group. We obtained demographic, anthropometric (weight, stature, waist, and neck circumferences), and clinical data (disease activity measured by SLEDAI-2K) from both groups; laboratory data including: lipid profile, plasma selenium, erythrocyte glutathione peroxidase activity (GPx), plasma malondialdehyde (MDA), ultrasensitive C-reactive protein (usCRP), insulin levels, and glycemia (Homeostasis Model Assessment for Insulin Resistance—HOMA-IR).
Results
Mean age at diagnosis of jSLE group was 15.9±1.7 years, with mean disease duration of 3.6±2.6 years. 48% of patients and controls had below-reference Se levels (≤46mcg/L). GPx was more frequently below reference levels (<4.171U/L) in the jSLE group, compared to controls. A ROC curve was used to assess the power of the variables to discriminate between both groups; insulin (AUC = 0.712; CI 95% 0.584–0.840), waist-to-height ratio (AUC = 0.704; CI 95% 0.572–0.837), and HOMA-IR (AUC = 0.689; CI 95% 0.556–0.822) were the variables with the greatest discriminatory power. Linear regression showed an independent inverse association between Se levels and c-LDL; no such correlation was found for GPx activity. SLEDAI-2 K and HOMA-IR showed no association with levels of Se and GPx activity.
Conclusions
Approximately, 50% of jSLE adolescents had below reference Se levels. The frequency of inadequate GPx values was higher in patients, compared to controls. There was an independent inverse association between Se and c-LDL levels in both groups; this was not the case for HOMA-IR and SLEDAI-2K. The data show the importance of assessing Se nutritional status in jSLE patients.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, OILJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
This study aimed to translate the 'Pediatric Quality of Life Inventory™ (PedsQL™ 3.0) Cardiac Module' into Portuguese, adapt it to Brazilian culture, and assess its psychometric properties (validity ...and reproducibility), and to calculate health-related quality of life scores on the PedsQL 4.0 and PedsQL™ 3.0 Cardiac Module Scales for a group of patients 5 to 18 years old with rheumatic heart disease.
The methods suggested by the authors of the original version of the questionnaire included 1) translation by an expert panel; 2) translation back into English and revision by the authors of the original version; 3) pilot study with seven children and parents in each of three age ranges (5 to 7, 8 to 12, and 13 to 18 years old); and 4) assessment of the measurement properties. In this stage, the PedsQL™ 3.0 Cardiac Module and the PedsQL 4.0 Generic Scale were applied to a sample comprising 109 children and adolescents with rheumatic heart disease and their parents or caregivers. The version for parents or caregivers was administered separately on the same day.
The values of Cronbach's alpha for all scales assessed in the questionnaire (heart problems and treatment symptoms, problems with perceived physical appearance, treatment anxiety, cognitive problems, and communication problems) varied from 0.6 to 0.8, indicating good internal consistency. Correlation was found between the scores for the Cardiac Module and the Generic Scale (0.36-0.86), demonstrating convergent validity (Spearman's correlation coefficient, p < 0.01). The symptoms, problems with perceived physical appearance, and cognitive and communication problem domains were able to distinguish between groups of patients with mild and moderate/severe heart disease (Student's t-test, p < 0.05). The intraclass correlation of the interobserver reproducibility was adequate (0.76 to 0.94 among the patients children/adolescents and 0.76 to 0.84 among their caregivers). The correlation between the patients' scores and their parents' scores varied from 0.50 to 0.86 (Pearson's correlation coefficient, p < 0.01).
The Brazilian version of the PedsQL™ 3.0 Cardiac Module was shown to be reliable. The application of this questionnaire in practice will be very useful for all professionals charged with the care of children and adolescents with heart diseases.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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