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1.
Artigo em Inglês | MEDLINE | ID: mdl-31772603

RESUMO

Background: Tai Chi Chuan (TCC) is an exercise of low to moderate intensity with key features of mindfulness, structural alignment, and flexibility to relax the body and mind in adults. Our previous study showed that TCC could improve the quality of life (QoL), pulmonary function, and fractional exhaled nitric oxide in asthmatic children. We further investigated whether the benefits induced by TCC were associated with immune regulation. Method: Six- to twelve-year-old children diagnosed with mild to severe persistent asthma for at least one year according to the Global Initiative for Asthma guidelines were enrolled from a tertiary pediatric allergy center in Taiwan. Asthmatic children were divided into two groups based on their choice: (1) the TCC group had a 60-minute TCC exercise session once weekly led by an instructor and (2) the control group kept their original activity levels. All other exercises were encouraged as usual. Pulmonary function tests, laboratory tests, standardized pediatric asthma QoL questionnaire (PAQLQ(S)), and childhood asthma control test (C-ACT) were performed before and after the TCC program (12 weeks). Data on medications and exacerbations were collected from medical records. Results: There were no differences between the TCC (n = 25) and control (n = 15) groups at baseline, except that the C-ACT showed significantly lower results in the TCC group (p=0.045). After 12 weeks, the number of leukocytes (p=0.041) and eosinophils (p=0.022) decreased, while regulatory T cells increased significantly (p=0.008) only in the TCC group. Lung functions (FEV1 and PEFR) were significantly improved in both the TCC (p < 0.001) and control (p=0.045 and 0.019, respectively) groups, while the PAQLQ(S) and C-ACT (p < 0.001) showed improvement only in the TCC group. Moreover, compared to the control group, the exacerbations within 12 weeks after the study were significantly decreased in the TCC group (p=0.031). After multiple regression by a conditional forward method, the factors that were significantly associated with exacerbation within 12 weeks after study is the practice of TCC and exacerbation within 24 weeks before study (p=0.013 and 0.015, respectively) after adjusting for age, sex, asthma severity, PEF, FEV1, C-ACT, PAQLQ(S), and medication score at baseline. Conclusion: TCC exercise may improve pulmonary functions, asthma control, and QoL and prevent exacerbations in asthmatic children through immune regulation. Further research on detailed mechanisms is mandated.

2.
BMC Pediatr ; 19(1): 232, 2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31296171

RESUMO

BACKGROUNDS: Behçet's disease (BD) is a rare vasculitic disorder affecting all sizes of vessels. Among BD patients, 4 to 25% of patients with diagnosed age younger than 16 years old are defined as juvenile BD (JBD). This study aimed to evaluate the clinical manifestations and treatments of patients with JBD, with a particular focus on the effectiveness and safety of anti-tumor necrosis factor (TNF)-alpha therapy. METHODS: We retrospectively reviewed data of all patients diagnosed with JBD at age of 16 years or younger in a tertiary hospital in Taiwan. The clinical manifestations, laboratory data, treatments, disease courses, and clinical outcomes were evaluated. The effectiveness of anti-TNF-alpha therapy was measured based on changes in Behçet's Disease Current Activity Form (BDCAF) scores, prednisolone dosages and the immunosuppression load scores. RESULTS: Fifty-five patients were included in the study. The median age at disease onset was 11 years. The most common clinical presentation was recurrent oral aphthous ulcers (100%), followed by genital ulceration (69.1%), skin lesions (36.4%), gastrointestinal symptoms (29.1%), ocular involvement (27.3%), and arthralgia (27.3%). Ninety-one percent of the patients fulfilled the International Criteria for Behçet's Disease, and 36.4% met the Paediatric Behçet's Disease criteria. The most frequently used medications were prednisolone (74.5%) and colchicine (54.5%). Six patients with refractory or severe JBD received anti-TNF-alpha therapy. These patients were diagnosed at a younger age compared with those who did not receive anti-TNF-alpha therapy (7.5 vs 13 years; P = 0.012), the BDCAF scores reduced significantly at the 1st month, the 6th month and 1 year after the treatment. They did not use steroids after the first year of treatment, and, after treatment for 6 months, their immunosuppression load scores reduced significantly. Due to the limited case numbers, literature reviews of anti-TNF-alpha therapy for refractory JBD were conducted, which had a total 18 JBD patients receiving anti-TNF-alpha therapy, of which fifteen patients had favorable outcomes after treatment with minimal side effects. CONCLUSIONS: Anti-TNF-alpha therapy may be necessary for JBD patients with refractory disease courses. Anti-TNF-alpha therapy was effective and safe in these patients, especially regarding its corticosteroid- and immunosuppressive drug-sparing effects.

3.
J Allergy Clin Immunol ; 143(1): 266-275, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29778502

RESUMO

BACKGROUND: Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined. OBJECTIVE: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. METHODS: We reviewed retrospectively the medical records of cohorts undergoing HSCT at collaborating facilities. RESULTS: Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced-intensity conditioning. Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT. CONCLUSION: Patients with APDS1 showed variable clinical manifestations. Life-threatening progressive combined immunodeficiency and massive lymphoproliferation were common indications for HSCT. Fludarabine-based reduced-intensity conditioning-HSCT ameliorated clinical symptoms, but transplantation-related complications were frequent, including graft failure.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Síndromes de Imunodeficiência , Transtornos Linfoproliferativos , Adolescente , Adulto , Aloenxertos , Criança , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases/imunologia , Intervalo Livre de Doença , Feminino , Humanos , Síndromes de Imunodeficiência/imunologia , Síndromes de Imunodeficiência/mortalidade , Síndromes de Imunodeficiência/patologia , Síndromes de Imunodeficiência/terapia , Transtornos Linfoproliferativos/imunologia , Transtornos Linfoproliferativos/mortalidade , Transtornos Linfoproliferativos/patologia , Transtornos Linfoproliferativos/terapia , Masculino , Taxa de Sobrevida
5.
J Microbiol Immunol Infect ; 52(1): 132-140, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28716364

RESUMO

BACKGROUND: The aim of this study was to evaluate whether breastfeeding should be discontinued for exclusively breast-fed infants with atopic dermatitis (AD). METHODS: Eighty-seven exclusively breast-fed infants with AD were enrolled in a prospective observational study. The infants were divided into 3 groups: breastfeeding only (BM group), partial breastfeeding and partial partially hydrolyzed whey formula (pHF-W) (Partial group) and pHF-W only (DC group). The extent and severity of AD were evaluated with the Patient-Oriented SCORing Atopic Dermatitis (PO-SCORAD) index at enrollment and 3 and 6 months later. RESULTS: There were no significant differences in parental atopy history, PO-SCORAD scores, and medication scores at baseline. At month 3 and 6, the PO-SCORAD scores were significantly decreased in all groups. PO-SCORAD scores at month 3 and 6 and at the last time point when topical corticosteroids were given were significantly different among the groups. Stepwise multiple linear regression analysis showed that baseline PO-SCORAD scores and stopping breastfeeding were significantly associated with month 3 PO-SCORAD scores (p < 0.001), after adjusting for sex, age, baseline medication scores, partial breastfeeding and parental atopy history. In addition to baseline PO-SCORAD scores and stopping breastfeeding, partial breastfeeding was significantly associated with month 6 PO-SCORAD scores. Long-term follow-up showed that only stopping breastfeeding was significantly associated with the last time point when topical corticosteroids were given (p = 0.014). CONCLUSION: For exclusively breast-fed infants with AD, discontinuing breastfeeding and shifting to pHF-W might help to improve symptoms and shorten the duration of AD regardless of sex, age and parental atopy history.


Assuntos
Aleitamento Materno , Dermatite Atópica/patologia , Corticosteroides/uso terapêutico , Dermatite Atópica/tratamento farmacológico , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Fatores de Risco , Autoavaliação , Índice de Gravidade de Doença , Inquéritos e Questionários
6.
Front Immunol ; 8: 808, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28747913

RESUMO

BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless treated with hematopoietic stem cell transplant. Delay in diagnosis is common without newborn screening. Family history of infant death due to infection or known SCID (FH) has been associated with earlier diagnosis. OBJECTIVE: The aim of this study was to identify the clinical features that affect age at diagnosis (AD) and time to the diagnosis of SCID. METHODS: From 2005 to 2016, 147 SCID patients were referred to the Asian Primary Immunodeficiency Network. Patients with genetic diagnosis, age at presentation (AP), and AD were selected for study. RESULTS: A total of 88 different SCID gene mutations were identified in 94 patients, including 49 IL2RG mutations, 12 RAG1 mutations, 8 RAG2 mutations, 7 JAK3 mutations, 4 DCLRE1C mutations, 4 IL7R mutations, 2 RFXANK mutations, and 2 ADA mutations. A total of 29 mutations were previously unreported. Eighty-three of the 94 patients fulfilled the selection criteria. Their median AD was 4 months, and the time to diagnosis was 2 months. The commonest SCID was X-linked (n = 57). A total of 29 patients had a positive FH. Candidiasis (n = 27) and bacillus Calmette-Guérin (BCG) vaccine infection (n = 19) were the commonest infections. The median age for candidiasis and BCG infection documented were 3 months and 4 months, respectively. The median absolute lymphocyte count (ALC) was 1.05 × 109/L with over 88% patients below 3 × 109/L. Positive FH was associated with earlier AP by 1 month (p = 0.002) and diagnosis by 2 months (p = 0.008), but not shorter time to diagnosis (p = 0.494). Candidiasis was associated with later AD by 2 months (p = 0.008) and longer time to diagnosis by 0.55 months (p = 0.003). BCG infections were not associated with age or time to diagnosis. CONCLUSION: FH was useful to aid earlier diagnosis but was overlooked by clinicians and not by parents. Similarly, typical clinical features of SCID were not recognized by clinicians to shorten the time to diagnosis. We suggest that lymphocyte subset should be performed for any infant with one or more of the following four clinical features: FH, candidiasis, BCG infections, and ALC below 3 × 109/L.

7.
Artigo em Inglês | MEDLINE | ID: mdl-28491110

RESUMO

Tai-Chi-Chuan (TCC) is an exercise of low-to-moderate intensity which is suitable for asthmatic patients. The aim of our study is to investigate improvements of the lung function, airway inflammation, and quality of life of asthmatic children after TCC. Participants included sixty-one elementary school students and they were divided into asthmatic (n = 29) and nonasthmatic (n = 32) groups by the International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire. Among them, 20 asthmatic and 18 nonasthmatic children volunteered to participate in a 60-minute TCC exercise weekly for 12 weeks. Baseline and postintervention assessments included forced expiratory volume in one second (FEV1), forced vital capacity (FVC), peak expiratory flow rate (PEFR), fractional exhaled nitric oxide (FeNO) level, and Standardised Pediatric Asthma Quality of Life Questionnaire (PAQLQ(S)). After intervention, the level of FeNO decreased significantly; PEFR and the FEV1/FVC also improved significantly in both asthmatic group and nonasthmatic group after TCC. The asthmatic children also had improved quality of life after TCC. The results indicated that TCC could improve the pulmonary function and decrease airway inflammation in both children with mild asthma and those without asthma. It also improves quality of life in mild asthmatic children. Nevertheless, further studies are required to determine the effect of TCC on children with moderate-to-severe asthma.

8.
JAMA Pediatr ; 170(1): 35-42, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26569624

RESUMO

IMPORTANCE: Sleep disturbance is common in children with atopic dermatitis (AD), but effective clinical management for this problem is lacking. Reduced levels of nocturnal melatonin were found to be associated with sleep disturbance and increased disease severity in children with AD. Melatonin also has sleep-inducing and anti-inflammatory properties and therefore might be useful for the management of AD. OBJECTIVE: To evaluate the effectiveness of melatonin supplementation for improving the sleep disturbance and severity of disease in children with AD. DESIGN, SETTING, AND PARTICIPANTS: This randomized clinical trial used a double-blind, placebo-controlled crossover design to study 73 children and adolescents aged 1 to 18 years with physician-diagnosed AD involving at least 5% of the total body surface area. The study was conducted at the pediatric department of a large tertiary care hospital in Taiwan from August 1, 2012, through January 31, 2013. Forty-eight children were randomized 1:1 to melatonin or placebo treatment, and 38 of these (79%) completed the cross-over period of the trial. Final follow-up occurred on April 13, 2013, and data were analyzed from January 27 to April 25, 2014. Analyses were based on intention to treat. INTERVENTIONS: Melatonin, 3 mg/d, or placebo for 4 weeks followed by a 2-week washout period and then crossover to the alternate treatment for 4 weeks. MAIN OUTCOMES AND MEASURES: The primary outcome was AD severity evaluated using the Scoring Atopic Dermatitis (SCORAD) index, with scores ranging from 0 to 103 and greater scores indicating worse symptoms. Secondary outcomes included sleep variables measured by actigraphy, subjective change in sleep and dermatitis, sleep variables measured by polysomnography, nocturnal urinary levels of 6-sulfatoxymelatonin, and serum IgE levels. RESULTS: After melatonin treatment among the 48 children included in the study, the SCORAD index decreased by 9.1 compared with after placebo (95% CI, -13.7 to -4.6; P < .001), from a mean (SD) of 49.1 (24.3) to 40.2 (20.9). Moreover, the sleep-onset latency shortened by 21.4 minutes after melatonin treatment compared with after placebo (95% CI, -38.6 to -4.2; P = .02). The improvement in the SCORAD index did not correlate significantly with the change in sleep-onset latency (r = -0.04; P = .85). No patient withdrew owing to adverse events, and no adverse event was reported throughout the study. CONCLUSIONS AND RELEVANCE: Melatonin supplementation is a safe and effective way to improve the sleep-onset latency and disease severity in children with AD. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT01638234.


Assuntos
Depressores do Sistema Nervoso Central/administração & dosagem , Dermatite Atópica/complicações , Melatonina/administração & dosagem , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/tratamento farmacológico , Sono/efeitos dos fármacos , Adolescente , Biomarcadores/sangue , Biomarcadores/urina , Depressores do Sistema Nervoso Central/sangue , Criança , Pré-Escolar , Estudos Cross-Over , Dermatite Atópica/sangue , Esquema de Medicação , Feminino , Humanos , Imunoglobulina E/sangue , Lactente , Masculino , Melatonina/análogos & derivados , Melatonina/sangue , Melatonina/urina , Polissonografia , Índice de Gravidade de Doença , Transtornos do Sono-Vigília/sangue , Resultado do Tratamento
9.
J Microbiol Immunol Infect ; 49(2): 264-70, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25070283

RESUMO

BACKGROUND/PURPOSE: The pathogenesis of juvenile dermatomyositis (JDM), the most common idiopathic inflammatory myopathy in children, is unclear. The identification of novel autoantibodies in JDM may have clinical implications. The aim of this study was to assess the presence of anti-p155/140, anti-p140 antibodies, and antiendothelial cells antibodies (AECA) in patients with JDM and to correlate autoantibodies with clinical manifestations. METHODS: Serum AECA against human umbilical vein endothelial cells were detected by enzyme-linked immunosorbent assay in 25 patients with JDM and 17 normal controls. Immunoblotting was performed to detect serum anti-p155/140 and anti-p140 antibodies. RESULTS: Patients with JDM had significantly higher serum levels of AECA than healthy controls (p = 0.002). Nineteen patients (76%) and five control patients (29.4%) had positive AECAs (p = 0.003). The cutoff point of serum levels of AECA was determined by the receiver operating characteristic (ROC) curve analysis. Anti-p155/140 and anti-p140 antibodies were detected in 9 patients and 7 patients with JDM (36% and 28%, respectively). Anti-p155/140 antibodies were significantly associated with higher proportion of ESR elevation (100% vs. 0%, p = 0.006), higher erythrocyte sedimentation rate levels at diagnosis (40.3 ± 15.5 vs. 13.4 ± 5.3, p = 0.019), and a younger age at diagnosis (5.2 ± 3.2 years vs. 8.0 ± 3.0 years, p = 0.03). CONCLUSION: anti-p155/140, anti-p140, and AECA antibodies are significantly associated with JDM. The roles of autoantibodies in the pathogenesis await further investigation.


Assuntos
Autoanticorpos/sangue , Autoantígenos/imunologia , Dermatomiosite/patologia , Células Endoteliais/imunologia , Adolescente , Criança , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Immunoblotting , Lactente , Masculino , Adulto Jovem
10.
Atherosclerosis ; 243(1): 11-8, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26342937

RESUMO

OBJECTIVE: The anti-inflammatory and cardiovascular protective effects of statin for patients with systemic lupus erythematosus (SLE) are not clear. We tested the hypothesis that statin use is associated with reduced mortality and morbidity in SLE patients with hyperlipidemia. METHODS: We included 4095 patients with SLE and hyperlipidemia from the entire population using the Taiwan National Health Insurance Research Database between 1997 and 2008. A total of 935 matching sets (1:2) of patients who had never used lipid-lowering medications and statin users were included in the nested matched cohort. Cox proportional hazards regression was used to calculate the hazard ratios (HR) and 95% confidence intervals (CI) for the association between statin and all-cause mortality, coronary artery disease (CAD), cerebrovascular disease (CVD) and end-stage renal disease (ESRD), conditional for matching sets in the matched cohort. RESULTS: The multivariate adjusted hazard ratios (HR) for statin users, as compared with patients had never used lipid-lowering medications, were 0.67 (95% CI, 0.54 to 0.83) for death from any cause. High-dose statins (>365 cumulative defined daily dose) significantly reduced risk of all-cause mortality (HR 0.44, 95% CI 0.32 to 0.60); CAD (HR 0.20, 95% CI 0.13 to 0.31); CVD (HR 0.14, 95% CI 0.08 to 0.25); and ESRD (HR 0.22, 95% CI, 0.16 to 0.29), with similar results in the nested matched study. CONCLUSION: Statin therapy in SLE patients with hyperlipidemia may reduce the risk of mortality, cardiovascular disease and ESRD. The effect of statins needs to be demonstrated in large prospective studies with long-term follow-up.


Assuntos
Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Hiperlipidemias/complicações , Lúpus Eritematoso Sistêmico/complicações , Adulto , Anti-Inflamatórios/uso terapêutico , Transtornos Cerebrovasculares/complicações , Transtornos Cerebrovasculares/tratamento farmacológico , Transtornos Cerebrovasculares/mortalidade , Estudos de Coortes , Doença da Artéria Coronariana/complicações , Doença da Artéria Coronariana/tratamento farmacológico , Doença da Artéria Coronariana/mortalidade , Relação Dose-Resposta a Droga , Feminino , Humanos , Hiperlipidemias/tratamento farmacológico , Hiperlipidemias/mortalidade , Fatores Imunológicos/uso terapêutico , Falência Renal Crônica/complicações , Falência Renal Crônica/tratamento farmacológico , Falência Renal Crônica/mortalidade , Lúpus Eritematoso Sistêmico/mortalidade , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Modelos de Riscos Proporcionais , Sistema de Registros , Análise de Regressão , Reprodutibilidade dos Testes , Taiwan
12.
J Formos Med Assoc ; 114(4): 347-52, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25839768

RESUMO

BACKGROUND/PURPOSE: Henoch-Schönlein purpura (HSP) is the most common small vessel vasculitis in children. It is considered to be an IgA-containing immune complex-mediated disease. Chemokines are small secreted proteins that attract leukocytes during inflammation. Our aim was to determine the serum levels of chemokines and investigate the association of chemokine gene polymorphisms with childhood HSP. METHODS: Serum levels of chemokines (interleukin-8/CXCL8, MCP-1/CCL2, RANTES/CCL5, MIG/CXCL9, and IP-10/CXCL10) were determined using cytometric beads arrays. We investigated the association of three single-nucleotide polymorphisms (SNPs) MCP1/CCL2 -2518C/T, RANTES/CCL5 -403C/T, and RANTES/CCL5 -28C/G with HSP in 85 HSP patients and 136 healthy controls. RESULTS: Five serum chemokine levels were significantly elevated in patients with the acute stage of HSP compared to the normal controls (p < 0.05). MCP1/CCL2 -2518 TT genotype and T allele were associated with the risk for HSP with OR (95% CI) 3.32 (1.45-7.59) and 1.78 (1.20-2.64), respectively. The RANTES/CCL5 -28 GG genotype was associated with a significantly lower percentage of corticosteroid usage and lower corticosteroid accumulative dose in HSP patients. RANTES/CCL5 -403 TC and TT genotype were significantly associated with renal manifestations with an OR (95% CI) of 4.33 (1.44-12.99), adjusted for sex and age and the other two SNP genotypes. CONCLUSION: Our results support the fact that chemokines play important roles in the pathogenesis of HSP. MCP1/CCL2 gene polymorphisms were associated with susceptibility for HSP. RANTES/CCL5 gene polymorphisms may be related to disease severity and HSP nephritis.


Assuntos
Quimiocina CCL2/genética , Quimiocina CCL5/genética , Polimorfismo de Nucleotídeo Único , Púrpura de Schoenlein-Henoch/genética , Adolescente , Estudos de Casos e Controles , Quimiocinas/sangue , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Modelos Logísticos , Masculino , Análise Multivariada , Índice de Gravidade de Doença , Taiwan , Centros de Atenção Terciária
13.
J Formos Med Assoc ; 114(1): 12-6, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25618583

RESUMO

BACKGROUND/PURPOSE: In order to know the true incidence of severe combined immunodeficiency (SCID) in a Chinese population, we conducted and implemented SCID newborn screening in Taiwan. METHODS: Between May 1, 2010 and December 31, 2011, the National Taiwan University Hospital Newborn Screening Center screened all newborns for T-cell lymphopenia by measuring the copy number of T-cell receptor excision circles (TRECs) and RNase P. Newborns with low TREC values were subjected to complete blood cell counts and flow cytometry. RESULTS: A total of 106,391 newborns were screened using the TREC assay over a period of 19 months. Five newborns were immediately referred for confirmatory tests, including two SCID patients and two patients with persistent T-cell lymphopenia; a third SCID patient was found 2 months after the study period. All three SCID cases received stem cell transplantation at the age of 2-5 months. We also identified five cases of 22q11.2 microdeletion syndrome. During this period, two SCID patients from among the unscreened newborns were reported, and they died at ages 3 months and 4 months, respectively. CONCLUSION: Newborn screening to measure the number of TREC copies successfully identifies newborns with T-cell lymphopenia, 22q11.2 microdeletion syndrome, and other high-risk conditions. Taken together, the incidence of T-cell lymphopenia in apparently healthy newborns is more than 1 in 11,821, and further attention to their immune functions is warranted.


Assuntos
Linfopenia/epidemiologia , Triagem Neonatal , Imunodeficiência Combinada Severa/epidemiologia , Grupo com Ancestrais do Continente Asiático , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Contagem de Linfócitos , Masculino , Taiwan/epidemiologia
14.
Pediatr Neonatol ; 56(1): 31-9, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24985888

RESUMO

BACKGROUND: Juvenile dermatomyositis is a rare childhood multisystem autoimmune disease involving primarily the skin and muscles, and it may lead to long-term disability. This study aimed to describe the clinical course of juvenile dermatomyositis and determine if any early clinical or laboratory features could predict outcome. METHODS: Medical charts of patients aged ≤18 years and diagnosed with juvenile dermatomyositis (according to the criteria of Bohan and Peter) at the Pediatric Department, National Taiwan University Hospital, between 1989 and 2009 were reviewed. The endpoints for disease assessment were complete clinical response and complete clinical remission. Cox's proportional hazards model was fitted to identify important predictors of complete clinical remission. RESULTS: A total of 39 patients with juvenile dermatomyositis were reviewed. Two-thirds were females, and the mean age at disease onset was 81.97 ± 46.63 months. The most common initial presentations were Gottron's papule (82.1%) and muscle weakness (82.1%). After excluding one patient with an incomplete record, the remaining 31 patients who had muscle weakness were analyzed; among them, 22 (70.97%) achieved complete clinical response, but only six (19.4%) achieved complete clinical remission. Multivariate analysis showed that female sex, negative Gowers' sign at disease onset, and positive photosensitivity at disease onset were favorable factors to achieve complete clinical remission. Moreover, covariate-adjusted survival curves were drawn for making predictions of complete clinical remission. Only 13 (33.33%) patients were symptom free at the end of follow up, whereas the other 26 suffered from different kinds of complications. None of them developed malignancy, but two (5.13%) patients died during the follow-up period. CONCLUSION: Factors such as male sex and Gowers' sign were unlikely to favor the achievement of complete clinical remission in juvenile dermatomyositis. Certain complications cannot be avoided, and thus more effective treatments and monitoring strategies are needed for better control of juvenile dermatomyositis.


Assuntos
Dermatomiosite/epidemiologia , Adolescente , Criança , Pré-Escolar , Dermatomiosite/complicações , Feminino , Humanos , Lactente , Masculino , Análise Multivariada , Transtornos de Fotossensibilidade/epidemiologia , Indução de Remissão , Estudos Retrospectivos , Fatores Sexuais , Taiwan/epidemiologia
15.
J Microbiol Immunol Infect ; 48(1): 113-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23010537

RESUMO

Hyper-IgM syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by elevated or normal serum IgM and decreased IgG, IgA, and IgE due to defective immunoglobulin class switching. X-linked HIGM (XHIGM, HIGM1) is the most frequent type, is caused by mutations in the CD40 ligand gene, and is regarded as a combined T and B immunodeficiency. We report an 18-year-old male who was diagnosed initially with hypogammaglobulinemia in infancy, but developed repeated pneumonia, sepsis, cellulitis, perianal abscess, pericarditis, and bronchiectasis despite regular intravenous immunoglobulin replacement therapy. The patient died at age 18 years due to pneumonia and tension pneumothorax. Mutation analysis revealed CD40L gene mutation within Exon 5 at nucleotide position 476 (cDNA 476G > A). This nonsense mutation predicted a tryptophan codon (TGG) change to a stop codon (TGA) at position 140 (W140X), preventing CD40L protein expression. Sequence analysis in the family confirmed a de novo mutation. The second case of 6-month-old male infant presented as Pneumocystis jiroveci pneumonia and acute respiratory distress syndrome. Gene analysis of the CD40L gene revealed G to C substitution in Intron 4 (c.409 + 5G > C) and mother was a carrier. Hematopoietic stem cell transplantation, the only cure for XHIGM, was arranged in the second case.


Assuntos
Ligante de CD40/genética , Síndrome de Imunodeficiência com Hiper-IgM Tipo 1/diagnóstico , Síndrome de Imunodeficiência com Hiper-IgM Tipo 1/genética , Hospedeiro Imunocomprometido , Infecções Oportunistas/epidemiologia , Mutação Puntual , Adolescente , Códon sem Sentido , Éxons , Evolução Fatal , Humanos , Lactente , Masculino , Mutação de Sentido Incorreto , Taiwan
16.
Pediatrics ; 134(2): e397-405, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25022734

RESUMO

BACKGROUND AND OBJECTIVES: Sleep disturbance is common in patients with atopic dermatitis (AD). However, studies have largely been questionnaire-based, and the pathophysiology remains unclear. The aims of this study were to determine objective characteristics of sleep disturbance in children with AD and explore contributing factors and clinical predictors. METHODS: Sleep parameters were measured by actigraphy and polysomnography in 72 patients with AD and 32 controls ages 1 to 18 years. Urinary 6-sulfatoxymelatonin levels, serum cytokines, and total and allergen-specific immunoglobulin E (IgE) levels were also measured. RESULTS: The patients with AD had significantly reduced sleep efficiency, longer sleep onset latency, more sleep fragmentation, and less nonrapid eye movement sleep. Results from actigraphy correlated well with those from polysomnography. The AD disease severity was associated with sleep disturbance (r = 0.55-0.7), and a Scoring Atopic Dermatitis index of ≥48.7 predicted poor sleep efficiency with a sensitivity of 83.3% and a specificity of 75% (area under the curve = 0.81, P = .001). Lower nocturnal melatonin secretion was significantly associated with sleep disturbance in the patients with AD. Other correlates of sleep disturbance included pruritus, scratching movements, higher total serum IgE levels, and allergic sensitization to dust mite and staphylococcal enterotoxins. CONCLUSIONS: Poor sleep efficiency is common in children with AD and can be predicted by the Scoring Atopic Dermatitis index. Melatonin and IgE might play a role in the sleep disturbance. Further studies are required to explore the mechanisms and clinical implications, and actigraphy could serve as a useful evaluating tool.


Assuntos
Dermatite Atópica/epidemiologia , Melatonina/metabolismo , Transtornos do Sono-Vigília/epidemiologia , Actigrafia , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Citocinas/análise , Dermatite Atópica/metabolismo , Feminino , Humanos , Imunoglobulina E/análise , Masculino , Polissonografia , Privação do Sono , Transtornos do Sono-Vigília/metabolismo
17.
J Formos Med Assoc ; 113(6): 340-8, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24820629

RESUMO

BACKGROUND/PURPOSE: Primary antibody deficiency is the most common disorder among primary immunodeficiencies. Recurrent infection and chronic lung change often lead to mortality and morbidity. METHODS: This study focused on the clinical presentation, molecular diagnosis, and outcomes of primary antibody deficiency in Taiwan pediatric group. Medical records of patients with primary antibody deficiency during the period 1990-2010 were retrospectively reviewed in one medical center. RESULTS: Among the 34 patients evaluated, X-linked agammaglobulinemia (XLA) (29.4%) and common variable immunodeficiency diseases (CVIDs) (29.4%) were the most common disorders presented with respiratory and skin infections. Some genotype/phenotype discordance was found in one family. Patients with XLA, CVID, and hyper-IgM syndrome without complications had higher trough and initial IgG levels, and shorter delays in diagnosis. Patients with trough IgG levels >700 mg/dL had less occurrence of bronchiectasis. CONCLUSION: These results summarized clinical manifestations of primary antibody deficiency in pediatric group in Taiwan. Clinicians should strive to shorten delays in diagnosis and maintain higher trough IgG levels to decrease subsequent mortality and morbidity.


Assuntos
Síndromes de Imunodeficiência/diagnóstico , Adolescente , Criança , Feminino , Seguimentos , Humanos , Síndromes de Imunodeficiência/genética , Síndromes de Imunodeficiência/terapia , Lactente , Masculino
18.
Autoimmun Rev ; 13(4-5): 556-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24434362

RESUMO

IgA nephropathy (IgAN) is the most common glomerulonephritis worldwide. The diagnostic hallmark of IgAN is the predominance of IgA deposits in the glomerular mesangium. The natural history of IgAN is variable. Clinical features including heavy proteinuria, elevated serum creatinine level, hypertension at presentation, and advanced histologic findings can strongly predict the risk of progressive chronic kidney disease. This article reviews the evolving history of diagnostic criteria of IgAN and the controversial aspects of the Oxford Classification. To date, there is no disease-targeted treatment for IgAN. Advances in understanding of the pathogenesis may help with earlier diagnosis and better monitoring of the treatment response and clinical course, and in the development of targeted therapy in the future.


Assuntos
Glomerulonefrite por IGA/patologia , Glomerulonefrite por IGA/imunologia , Glomerulonefrite por IGA/terapia , Humanos , Imunoglobulina A/imunologia , Prognóstico
19.
Autoimmun Rev ; 13(4-5): 355-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24424188

RESUMO

Henoch-Schönlein purpura (HSP) is a common childhood systemic vasculitis with clinical characteristics of cutaneous palpable purpura, arthralgia/arthritis, bowel angina, and hematuria/proteinuria. HSP is identified mainly based on the above presentations. Combined with pathohistological findings of leukocytoclastic vasculitis (LCV) and IgA-immune deposits in vessel walls and/or glomeruli increase the diagnostic sensitivity and specificity. However, considering the accessibility of biopsy and some patients with atypical presentations, there are still medical unmet needs in HSP diagnosis. This article reviews the diagnosis of HSP including the aspects of classification criteria, differential diagnosis, and some laboratory findings as the biomarkers with diagnostic potential.


Assuntos
Púrpura de Schoenlein-Henoch/diagnóstico , Artrite/diagnóstico , Biomarcadores/sangue , Congressos como Assunto , Conferências de Consenso como Assunto , Diagnóstico Diferencial , Humanos , Púrpura de Schoenlein-Henoch/sangue
20.
J Microbiol Immunol Infect ; 47(6): 550-4, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22921805

RESUMO

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is characterized by periodic fever, cutaneous rash, conjunctivitis, lymphadenopathy, abdominal pain, myalgia, and arthralgia. It is a rare autosomal dominant disease and strongly associated with heterozygous mutations in the tumor necrosis factor (TNF) receptor super family 1A (TNFRSF1A) gene. It is believed to be more common in Western countries than in Asian countries. Here, we present the case of a 14-year-old girl with periodic fever and abdominal pain with elevation of inflammatory markers for 2 years. After extensive work-up of infectious etiology with negative results, the diagnosis of TRAPS was made although no gene mutations were identified in the TNFRSF1A gene, MVK gene, and NALP3/CIAS1 gene. She had partial clinical response to corticosteroids and immunomodulatory agents. However, the treatment response to TNF-α inhibitor etanercept was dramatic. She has remained symptom free under regular weekly to biweekly etanercept treatment for 2 years. We also reviewed the related literature and summarized the data of 10 Asian cases of TRAPS.


Assuntos
Dor Abdominal/diagnóstico , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/patologia , Adolescente , Corticosteroides/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Grupo com Ancestrais do Continente Asiático , Proteínas de Transporte/genética , Etanercepte , Feminino , Febre/diagnóstico , Humanos , Imunoglobulina G/uso terapêutico , Fatores Imunológicos/uso terapêutico , Proteína 3 que Contém Domínio de Pirina da Família NLR , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Receptores do Fator de Necrose Tumoral/uso terapêutico , Receptores Tipo I de Fatores de Necrose Tumoral/genética , Recidiva , Resultado do Tratamento , Fator de Necrose Tumoral alfa/antagonistas & inibidores
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