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1.
Harefuah ; 158(9): 589-594, 2019 Sep.
Artigo em Hebraico | MEDLINE | ID: mdl-31507111

RESUMO

BACKGROUND: The field of pediatric rheumatology was only recently recognized in Israel as a sub-specialty. To enable a fellowship program in this field comprising mainly uncommon diseases, the Meir and Shaare Zedek medical centers were authorized to implement a joint fellowship program, in which the trainees split their time between the two medical centers. OBJECTIVES: This article presents the unique experience as a trainee in the joint fellowship program in pediatric rheumatology, while relating to the different characteristics of these centers, patient populations and variable disease exposure. METHODS: Assessment of the extent of clinical and procedural exposure was achieved by comparing the exposure data of the fellow during the first two years of the joint fellowship to the published data derived from questionnaires answered by 44 fellows in the United States. RESULTS: All requirements for successfully completing the Israeli fellowship program were fulfilled, but also those of the North American and European programs. We have shown that the extent of both clinical and procedural exposure is high in the joint fellowship program. We also show the differences in the variety of diseases seen in both centers. DISCUSSION: Possible explanations for these observations are provided in this article. The experience of this joint fellowship can set an example for other fellowship programs in medical areas dealing with uncommon diseases.


Assuntos
Bolsas de Estudo , Pediatria , Reumatologia , Criança , Humanos , Israel , Inquéritos e Questionários , Estados Unidos
3.
J Pediatr ; 210: 1-2, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31234977
8.
J Pediatr ; 201: 2-3, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30244728
9.
J Pediatr ; 201: 244, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30244729
10.
Acta Paediatr ; 107(12): 2179-2184, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29797463

RESUMO

AIM: This study assessed the validity of using established Japanese risk scoring methods to predict intravenous immunoglobulin (IVIG) resistance to Kawasaki disease in Israeli children. METHODS: We reviewed the medical records of 282 patients (70% male) with Kawasaki disease from six Israeli medical centres between 2004 and 2013. Their mean age was 2.5 years. The risk scores were calculated using the Kobayashi, Sano and Egami scoring methods and analysed to determine whether a higher risk score predicted IVIG resistance in this population. Factors that predicted a lack of response to the initial IVIG dose were identified. RESULTS: We found that 18% did not respond to the first IVIG dose. The three scoring methods were unable to reliably predict IVIG resistance, with sensitivities of 23%-32% and specificities of 67%-87%. Calculating a predictive score that was specific for this population was also unsuccessful. The factors that predicted a lacked of response to the first IVIG dose included low albumin, elevated total bilirubin and ethnicity. CONCLUSION: The established risk scoring methods created for Japanese populations with Kawasaki disease were not suitable for predicting IVIG resistance in Caucasian Israeli children, and we were unable to create a specific scoring method that was able to do this.

11.
N Engl J Med ; 378(20): 1908-1919, 2018 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-29768139

RESUMO

BACKGROUND: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares. METHODS: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. The primary outcome was complete response (resolution of flare and no flare until week 16). In the subsequent phase up to week 40, patients who had a complete response underwent a second randomization to receive canakinumab or placebo every 8 weeks. Patients who underwent a second randomization and had a subsequent flare and all other patients received open-label canakinumab. RESULTS: At week 16, significantly more patients receiving canakinumab had a complete response than those receiving placebo: 61% vs. 6% of patients with colchicine-resistant familial Mediterranean fever (P<0.001), 35% versus 6% of those with mevalonate kinase deficiency (P=0.003), and 45% versus 8% of those with TRAPS (P=0.006). The inclusion of patients whose dose was increased to 300 mg every 4 weeks yielded a complete response in 71% of those with colchicine-resistant familial Mediterranean fever, 57% of those with mevalonate kinase deficiency, and 73% of those with TRAPS. After week 16, an extended dosing regimen (every 8 weeks) maintained disease control in 46% of patients with colchicine-resistant familial Mediterranean fever, 23% of those with mevalonate kinase deficiency, and 53% of those with TRAPS. Among patients who received canakinumab, the most frequently reported adverse events were infections (173.3, 313.5, and 148.0 per 100 patient-years among patients with colchicine-resistant familial Mediterranean fever, those with mevalonate kinase deficiency, and those with TRAPS, respectively), with a few being serious infections (6.6, 13.7, and 0.0 per 100 patient-years). CONCLUSIONS: In this trial, canakinumab was effective in controlling and preventing flares in patients with colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, and TRAPS. (Funded by Novartis; CLUSTER ClinicalTrials.gov number, NCT02059291 .).


Assuntos
Anticorpos Monoclonais/uso terapêutico , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre/tratamento farmacológico , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Interleucina-1beta/antagonistas & inibidores , Deficiência de Mevalonato Quinase/tratamento farmacológico , Adolescente , Adulto , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Método Duplo-Cego , Feminino , Humanos , Injeções Subcutâneas , Masculino , Adulto Jovem
12.
J Pediatr ; 197: 1-2, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29801535
14.
J Clin Invest ; 128(7): 3041-3052, 2018 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-29649002

RESUMO

BACKGROUND: Monogenic IFN-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, with IFN-blocking activity in vitro, to ameliorate disease. METHODS: Between October 2011 and February 2017, 10 patients with CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures), 4 patients with SAVI (stimulator of IFN genes-associated [STING-associated] vasculopathy with onset in infancy), and 4 patients with other interferonopathies were enrolled in an expanded access program. The patients underwent dose escalation, and the benefit was assessed by reductions in daily disease symptoms and corticosteroid requirement. Quality of life, organ inflammation, changes in IFN-induced biomarkers, and safety were longitudinally assessed. RESULTS: Eighteen patients were treated for a mean duration of 3.0 years (1.5-4.9 years). The median daily symptom score decreased from 1.3 (interquartile range [IQR], 0.93-1.78) to 0.25 (IQR, 0.1-0.63) (P < 0.0001). In 14 patients receiving corticosteroids at baseline, daily prednisone doses decreased from 0.44 mg/kg/day (IQR, 0.31-1.09) to 0.11 mg/kg/day (IQR, 0.02-0.24) (P < 0.01), and 5 of 10 patients with CANDLE achieved lasting clinical remission. The patients' quality of life and height and bone mineral density Z-scores significantly improved, and their IFN biomarkers decreased. Three patients, two of whom had genetically undefined conditions, discontinued treatment because of lack of efficacy, and one CANDLE patient discontinued treatment because of BK viremia and azotemia. The most common adverse events were upper respiratory infections, gastroenteritis, and BK viruria and viremia. CONCLUSION: Upon baricitinib treatment, clinical manifestations and inflammatory and IFN biomarkers improved in patients with the monogenic interferonopathies CANDLE, SAVI, and other interferonopathies. Monitoring safety and efficacy is important in benefit-risk assessment. TRIAL REGISTRATION: ClinicalTrials.gov NCT01724580 and NCT02974595. FUNDING: This research was supported by the Intramural Research Program of the NIH, NIAID, and NIAMS. Baricitinib was provided by Eli Lilly and Company, which is the sponsor of the expanded access program for this drug.

17.
Clin Exp Rheumatol ; 35 Suppl 108(6): 82-85, 2017 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29148409

RESUMO

OBJECTIVES: Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene. The NLRP3-Q703K allele has been reported both as a functional polymorphism and as a low penetrance mutation. METHODS: To describe the clinical phenotype of subjects with the Q703K allele and to report the frequency of this allele among patients with autoinflammatory symptoms and healthy controls. To this end, a cohort of 10 ethnically-matched controls per each Q703K-carrying patient, was composed. RESULTS: Ninety patients suspected of harboring a systemic autoinflammatory disease (SAID), exclusive of FMF, were referred to our center for genotyping between 2012 and 2015. Fourteen of them (15.5%) were found to carry the Q703K allele, compared to 22 of 130 (16.9%) healthy, ethnically matched controls. CONCLUSIONS: The similar carrier rate of the NLRP3-Q703K allele among patients with manifestations of a SAID and an ethnically matched control group suggest that this variant, does not determine the clinical phenotype. This reiterates the importance of testing a control group to avoid erroneously attributing a causative role to a gene polymorphism.


Assuntos
Síndromes Periódicas Associadas à Criopirina/genética , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Polimorfismo Genético , Estudos de Casos e Controles , Síndromes Periódicas Associadas à Criopirina/diagnóstico , Síndromes Periódicas Associadas à Criopirina/etnologia , Síndromes Periódicas Associadas à Criopirina/imunologia , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Heterozigoto , Humanos , Israel/epidemiologia , Epidemiologia Molecular , Fenótipo , Fatores de Risco
18.
Pediatr Rheumatol Online J ; 15(1): 69, 2017 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-28865469

RESUMO

BACKGROUND: This study examined whether the comic book Neta and the Medikidz Explain JIA would improve disease-related knowledge and treatment adherence among patients with juvenile idiopathic arthritis (JIA). METHODS: In this prospective cohort study, JIA patients answered 20 multiple-choice knowledge questions about their disease, before and after reading the comic book. Demographic, clinical, health-related quality of life and adherence data were recorded and correlated to the responses. RESULTS: We studied 61 patients with a mean age of 14 ± 3.3 (range 8-18) years, 67% female, 83% Jewish and 17% non-Jewish. Thirty-nine percent had oligoarthritis, 13% systemic, 32% polyarthritis 11% psoriatic and 5% enthesitis-related type JIA. The disease was active in 46%, 40% were treated with biologics/disease modifying anti-rheumatic drugs, and 34% were in remission on medication. Among the 53 patients who completed before and after quizzes, average score increased from 63 to 80% (P < 0.001). Non-Jewish patients initially scored lower than Jewish patients (48%), but their score increased to 79% after reading the comic book. Twenty-seven patients who also completed the quiz 1 year after the first reading retained their knowledge (79%). We did not find a statistically significant correlation between knowledge and age, sex, disease subtype, or Child Health Questionnaire quality of life scores. Adherence to medication use, physical therapy and rheumatology clinic visits were high at baseline; thus, these did not change after reading the comic. CONCLUSIONS: The comic booklet Neta and the Medikidz Explain JIA is a good educational tool for increasing disease-related knowledge in children with JIA.


Assuntos
Artrite Juvenil/terapia , Histórias em Quadrinhos como Assunto , Cooperação do Paciente/estatística & dados numéricos , Educação de Pacientes como Assunto/métodos , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Prospectivos , Qualidade de Vida/psicologia
20.
J Pediatr ; 186: 1-2, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28648268
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