Abstract:
BACKGROUND:Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carrier rate in Egyptian children. METHODS:The study enrolled 90 individuals, sixty children with Henoch-Schonlein purpura (HSP), together with 30 sex-and age-matched apparently healthy controls. The entire study group was screened for 12 common MEFV mutations using a reverse hybridization assay of biotinylated PCR products. RESULTS:Patients with HSP had a significantly higher frequency of MEFV mutations (61.7%), when compared to the apparently healthy control population (36.7%). V726A was the most frequent mutation with an allelic frequency of 10.8%. Ninety- one percent of patients with MEFV mutations were heterozygous for one mutation, while 8.1% had a compound heterozygous MEFV gene mutations. The mutation V726A, followed by E148Q, were the leading mutations, present in 16.6% and in 13.3% of controls. CONCLUSIONS:MEFV mutations may be related to HSP susceptibility in children. The mutations were not associated with any clinical and laboratory manifestations. Screening for MEFV mutations in larger number of HSP children may be beneficial to evaluate any possible relationship between certain types of MEFV mutations and HSP, and compare the HSP MEFV mutations to the types of MEFV mutations associated with FMF.
journal_name
Pediatr Rheumatol Online Jjournal_title
Pediatric rheumatology online journalauthors
Salah S,Rizk S,Lotfy HM,El Houchi S,Marzouk H,Farag Ydoi
10.1186/1546-0096-12-41subject
Has Abstractpub_date
2014-09-09 00:00:00pages
41issn
1546-0096pii
1741journal_volume
12pub_type
杂志文章abstract:: Although musculoskeletal ultrasound (MSUS) has emerged as an indispensible tool among physicians involved in musculoskeletal medicine in the last two decades, only recently has it become more attractive to pediatric rheumatologists. Thereafter, the use of MSUS in pediatric rheumatology has started to increase. Yet, a...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-25
更新日期:2011-09-12 00:00:00
abstract:BACKGROUND:Although Henoch-Schonlein purpura (HSP) is the most common form of systemic vasculitis in children, the long term effect of HSP on endothelial function is still not clear. The aim of our study was to evaluate the long term effect of HSP on endothelial function in children and adolescents. METHODS:This resea...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-016-0135-z
更新日期:2017-01-14 00:00:00
abstract::Cogan syndrome is a systemic disease manifesting interstitial keratitis, sensorineural hearing loss, tinnitus, and rotatory vertigo. Renal complications of this syndrome are very rare. We encountered an adolescent with Cogan syndrome complicated by aortitis and anti-neutrophil cytoplasmic antibody (ANCA)-associated gl...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-15
更新日期:2014-04-25 00:00:00
abstract:BACKGROUND:Patient recruitment can be very challenging in paediatric studies, especially in relatively uncommon conditions, such as juvenile idiopathic arthritis (JIA). However, involving children and young people (CYP) in the design of such trials could promise a more rapid trajectory towards making evidence-based tre...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0293-2
更新日期:2018-12-04 00:00:00
abstract:BACKGROUND:Kawasaki Disease (KD), the leading cause of acquired heart disease in children in the developed world, is extremely rare in neonates. We present a case of incomplete KD in a neonate and a review of the literature on neonatal KD. CASE PRESENTATION:A previously healthy full term 15 day old Caucasian male with...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-018-0263-8
更新日期:2018-07-03 00:00:00
abstract::Following publication of the original article [1], we have been notified that the colour representation of the graph is not correct in Figure 6 legend. ...
journal_title:Pediatric rheumatology online journal
pub_type: 已发布勘误
doi:10.1186/s12969-020-0405-7
更新日期:2020-02-18 00:00:00
abstract:BACKGROUND:Recently preliminary ultrasonography (US) definitions, in B mode, for normal components of pediatric joints have been developed by the OMERACT US group. The aim of the current study was to include Doppler findings in the evaluation and definition of normal joint features that can be visualized in healthy chi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0240-2
更新日期:2018-04-10 00:00:00
abstract:BACKGROUND:Relapsing periodic arthritis is a general term used for a group of diseases with recurring and periodic nature, in which the joints are intermittently involved. The aim of this study is to evaluation of the possible relationship between MEFV gene mutations in intermittent arthritis of children which has recu...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0329-2
更新日期:2019-06-06 00:00:00
abstract:BACKGROUND:Acquired complement deficiency can occur in the setting of autoimmune syndromes, such as systemic lupus erythematosus (SLE), with very low or, occasionally, undetectable C3 levels. Based on inherited complement defects, patients with transiently low complement may be at similar risk for serious bacterial inf...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00467-0
更新日期:2020-09-24 00:00:00
abstract:BACKGROUND:JIA-associated uveitis (JIAU) is a serious, sight-threatening disease with significant long-term complications and risk of blindness, even with improved contemporary treatments. The MIWGUC was set up in order to propose specific JIAU activity and response items and to validate their applicability for clinica...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0345-2
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:There are controversies regarding the accuracy of the tuberculin skin test (TST) and methods based on the production of interferon gamma by sensitized T cells for the diagnosis of latent tuberculosis infection (LTBI) in pediatrics and immunosuppressed patients. Our objectives are to study TST and ELISPOT/T. ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-12-17
更新日期:2014-05-22 00:00:00
abstract:OBJECTIVES:To examine the prescribing habits of NSAIDs among pediatric medical and surgical practitioners, and to examine concerns and barriers to their use. METHODS:A sample of 1289 pediatricians, pediatric rheumatologists, sports medicine physicians, pediatric surgeons and pediatric orthopedic surgeons in the United...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-8-7
更新日期:2010-02-04 00:00:00
abstract:BACKGROUND:Remission is the primary objective of treating juvenile idiopathic arthritis (JIA). It is still debatable whether early intensive treatment is superior in terms of earlier achievement of remission. The aim of this study was to evaluate the effectiveness of early etanercept+methotrexate (ETA+MTX) combination ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-020-00488-9
更新日期:2021-01-06 00:00:00
abstract::In 2018, an international Task Force formulated recommendations for treating Juvenile Idiopathic Arthritis (JIA) to target. The Task Force has not yet resolved three issues. The first issue is the lack of a single "best" target. The Task Force decided not to recommend the use of a specific instrument to assess inactiv...
journal_title:Pediatric rheumatology online journal
pub_type: 信件
doi:10.1186/s12969-020-00428-7
更新日期:2020-04-16 00:00:00
abstract:BACKGROUND:Children are commonly referred to a pediatric rheumatology center for the laboratory finding of an Anti-nuclear antibody (ANA) of undetermined significance. Previous studies regarding adult rheumatology patients have supported an association between ANA and anti-thyroid antibodies, with the prevalence of thy...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-8-15
更新日期:2010-05-05 00:00:00
abstract:UNLABELLED: BACKGROUND:As patients with juvenile idiopathic arthritis (JIA) progress into adulthood, long-term outcome is determined by disease activity, physical and psychosocial development. Decreased aerobic capacity may play a critical role in health-related outcomes in JIA, since it has been linked with cardiovas...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-10-25
更新日期:2012-08-20 00:00:00
abstract:BACKGROUND:Kawasaki disease (KD) is an acute febrile systemic vasculitis that affects small and medium blood vessels. Intensified treatments for the most severely affected patients have been proposed recently, and the early identification of KD patients at high risk for coronary artery aneurysms (CAA) is crucial. Howev...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-018-0264-7
更新日期:2018-07-18 00:00:00
abstract::On March 11th, 2020 the World Health Organization declared COVID-19 a global pandemic. The infection, transmitted by 2019 novel coronavirus (2019-nCov), was first discovered in December 2019, in Wuhan, Hubei Province, and then rapidly spread worldwide. Italy was early and severely involved, with a critical spread of t...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-020-00422-z
更新日期:2020-04-22 00:00:00
abstract:BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is the most catastrophic form of heterotopic ossification, due to ongoing intracellular signaling through the bone morphogenic protein pathway. The paroxysmal appearance of inflammatory lumps and elevated inflammatory markers during flares, suggest that FOP is an a...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0386-6
更新日期:2019-12-21 00:00:00
abstract:: Autoimmunity is often observed among individuals with primary immune deficiencies; however, the frequency and role of autoimmunity in Schimke immuno-osseous dysplasia (SIOD) has not been fully assessed. SIOD, which is caused by mutations of SMARCAL1, is a rare autosomal recessive disease with its prominent features b...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-27
更新日期:2011-09-13 00:00:00
abstract:: There is a debate whether post-streptococcal reactive arthritis (PSRA) is a separate entity or a condition on the spectrum of acute rheumatic fever (ARF). We believe that PSRA is a distinct entity and in this paper we review the substantial differences between PSRA and ARF. We show how the demographic, clinical, gene...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/1546-0096-9-32
更新日期:2011-10-20 00:00:00
abstract:BACKGROUND:Juvenile Idiopathic Arthritis (JIA) is the most common cause of non-infectious joint inflammation in children. Synovial inflammation results in pain, swelling and stiffness. Animal and adult human studies indicate that localized joint-associated inflammation may produce generalized changes in pain sensitivit...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/1546-0096-12-39
更新日期:2014-09-06 00:00:00
abstract:BACKGROUND:Muckle-Wells-syndrome (MWS) is an autoinflammatory disease characterized by systemic and organ-specific inflammation due to excessive interleukin (IL)-1 release. Inner ear inflammation results in irreversible sensorineural hearing loss, if untreated. Early recognition and therapy may prevent deafness. The ai...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-015-0041-9
更新日期:2015-11-04 00:00:00
abstract:BACKGROUND:To assess the predictors for intravenous immunoglobulin (IVIG) resistance and coronary artery lesions (CALs) in Kawasaki disease (KD). METHODS:A total of 560 KD patients were reviewed retrospectively, including 410 complete KD (cKD) and 150 incomplete KD (iKD) patients. The laboratory data were compared bet...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0149-1
更新日期:2017-03-21 00:00:00
abstract:BACKGROUND:Hemophagocytic lymphohistiocytosis (HLH) and macrophage activation syndrome (MAS) were historically thought to be distinct entities, often managed in isolation. In fact, these conditions are closely related. A collaborative approach, which incorporates expertise from subspecialties that previously treated HL...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0309-6
更新日期:2019-02-14 00:00:00
abstract:BACKGROUND:Of 37 pediatric rheumatology fellowship training programs in the United States, many have three or fewer fellows at a given time, making large-scale assessment of fellow performance difficult. An objective structured clinical examination (OSCE) is a scenario-based simulation method that assesses individual p...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-019-0308-7
更新日期:2019-02-08 00:00:00
abstract:BACKGROUND:Juvenile idiopathic arthritis (JIA) is the most common pediatric rheumatic disease and a leading cause of childhood disability. The objective of this study was to characterize the PK, safety, and taste acceptability of tofacitinib in patients with JIA. METHODS:This Phase 1, open-label, multiple-dose (twice ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,多中心研究
doi:10.1186/s12969-017-0212-y
更新日期:2017-12-28 00:00:00
abstract::Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood, with JIA-associated uveitis its most common extra-articular manifestation. JIA-associated uveitis is a potentially sight-threatening condition and thus carries a considerable risk of morbidity. The aetiology of the condition is auto...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-016-0088-2
更新日期:2016-04-27 00:00:00
abstract:BACKGROUND:The usefulness of musculoskeletal ultrasonography (MSUS) in paediatric population is limited by lack of reference values. One of such parameters is hip joint capsule thickness, postulated as an early measure for synovitis. However, the joint capsule is hardly a distinguished structure from slit synovial cavi...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章
doi:10.1186/s12969-017-0136-6
更新日期:2017-01-31 00:00:00
abstract::Sports participation can be an integral part of adolescent development with numerous positive short and long-term effects. Despite these potential benefits very high levels of physical activity, during skeletal maturation, have been proposed as a possible cause of cam-type femoroacetabular impingement (FAI). The influ...
journal_title:Pediatric rheumatology online journal
pub_type: 杂志文章,评审
doi:10.1186/s12969-016-0077-5
更新日期:2016-03-11 00:00:00