50 research outputs found
Case report: Sulfasalazine-induced hypersensitivity
Drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is a systemic inflammatory condition that is characterized by multisystemic involvement (liver, blood, and skin), heterogeneous manifestations (fever, rash, lymphadenopathy, and eosinophilia), and an unpredictable course; cases of DiHS/DRESS caused by sulfasalazine are rare in children compared to adults. We report a case of a 12-year-old girl with juvenile idiopathic arthritis (JIA) and sulfasalazine-related hypersensitivity who developed fever, rash, blood abnormalities, and hepatitis complicated with hypocoagulation. The treatment with intravenous and then oral glucocorticosteroids was effective. We also reviewed 15 cases (67% male patients) of childhood-onset sulfasalazine-related DiHS/DRESS from the MEDLINE/PubMed and Scopus online databases. All reviewed cases had a fever, lymphadenopathy, and liver involvement. Eosinophilia was reported in 60% of patients. All patients were treated with systemic corticosteroids, and one patient required emergency liver transplantation. Two patients (13%) died. A total of 40.0% of patients satisfied RegiSCAR definite criteria, 53.3% were probable, and 80.0% satisfied Bocquet's criteria. Only 13.3% satisfied typical and 20.0% atypical DIHS criteria from the Japanese group. Pediatric rheumatologists should be aware of DiHS/DRESS due to its similarities to other systemic inflammatory syndromes (especially systemic JIA, macrophage activation syndrome, and secondary hemophagocytic lymphohistiocytosis). Further studies of DiHS/DRESS syndrome in children are needed to improve its recognition and differential diagnostic and therapeutic options
Glucocorticoid receptor gene polymorphism and juvenile idiopathic arthritis
<p>Abstract</p> <p>Background</p> <p>The glucocorticoid receptor gene (NR3C1) has been suggested as a candidate gene affecting juvenile idiopathic arthritis (JIA) course and prognosis. The purpose of this study is to investigate the glucocorticoid receptor gene <it>Bcl</it>I polymorphism (rs41423247) in JIA patients, the gene's role in susceptibility to juvenile idiopathic arthritis, and its associations with JIA activity, course and bone mineralization.</p> <p>Methods</p> <p>One hundred twenty-two Caucasian children with JIA and 143 healthy ethnically matched controls were studied. We checked markers of clinical and laboratory activity: morning stiffness, Ritchie Articular Index (RAI), swollen joint count (SJC), tender joint count (TJC), physician's visual analog scale (VAS), hemoglobin level (Hb), leukocyte count (L), platelet count (Pl), Westergren erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), albumin, DAS and DAS28. Bone mineralization was measured by dual-energy X-ray absorptiometry (DXA) of lumbar spine L1-L4. Assessments of bone metabolism included osteocalcin, C-terminal telopeptide (CTT), parathyroid hormone (PTH), total and ionized calcium, inorganic phosphate and total alkaline phosphatase (TAP). <it>Bcl</it>I polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism.</p> <p>Results</p> <p>No association was observed between glucocorticoid receptor gene polymorphism and the presence or absence of JIA. In girls with JIA, the presence of the G allele was associated with an unfavorable arthritis course, a younger age of onset of arthritis (p = 0.0017), and higher inflammatory activity. The higher inflammatory activity was demonstrated by the following: increased time of morning stiffness (p = 0.02), VAS (p = 0.014), RAI (p = 0.048), DAS (p = 0.035), DAS28 (p = 0.05), Pl (p = 0.003), L (p = 0.046), CRP (p = 0.01). In addition, these patients had bone metabolism disturbances as follows: decreased BA (p = 0.0001), BMC (p = 0.00007), BMD (0.005) and Z score (p = 0.002); and higher levels of osteocalcin (p = 0.03), CTT (p = 0.036), TAP activity (p = 0.01) and ionized calcium (p = 0.017). In boys with JIA, no significant differences were observed related to the polymorphic alleles or genotypes.</p> <p>Conclusions</p> <p>We suggest that G allele and the GG genotype of the glucocorticoid receptor gene <it>Bcl</it>I polymorphism contribute to an unfavorable course and low bone mineral density in girls with JIA.</p
Evaluation of etanercept (a tumor necrosis factor alpha inhibitor) as an effective treatment for joint disease in mucopolysaccharidosis type I. A case report with whole-body magnetic resonance imaging
SummaryA 12-year-old girl with mucopolysaccharidosis (MPS) type I (Gurler-Scheie syndrome, Q70X/del C683 of the IDUA gene in the compound heterozygous state) regularly received enzyme replacement therapy (laronidase) since the preclinical stage (6βmonths old) due to positive family history, and started etanercept treatment due to progression of joint pain and decreasing capability to walk. The patient had a significant reduction of pain in the joints and an expansion of daily physical activity without adverse events. A decrease in bone marrow edema without foci progression compared to baseline assessment was observed in the whole-body MRI.During the treatment (baseline/6βmonths/12βmonths) the following was observed: childhood health assessment questionnaire (CHAQ) index of 1.88/2.13/1.63 points; patientβs pediatric quality of life inventory (PedsQL) of 37/30/31 points; parental PedsQL of 26/27/34 points; and patientβs pain visual-analog scale (VAS) of 75/45/40, with no VAS recorded for the mother. Juvenile arthritis functional assessment report (JAFAR) scores of 35/34/8 points were observed. A significant reduction in the taking of NSAIDs was observed. In the second half of the year, the nasal breathing became normal, and remission in chronic rhinitis and adenoiditis was achieved (no infection episodes) without otitis episodes.ConclusionEtanercept in mucopolysaccharidosis type 1 is safe and well tolerated. The reduction of joint pain and increased walking capacity were observed. A decreased number of respiratory infection episodes and nasal breathing improvement were noted during the treatment. The observation shows the role of inflammation in the different aspects of MPS. Further investigations on immune system dysregulation in patients with MPS I are needed. Additional studies on the efficacy and safety of anti-rheumatic biological drugs in patients with MPSI are required
Nonbacterial and bacterial osteomyelitis in children: a caseβcontrol retrospective study
PurposeOsteomyelitis is a group of bone infectious (bacterial osteomyeilitisβBO) and noninfectious inflammatory diseases (nonbacterial osteomyelitisβNBO) with similar clinical, radiology, and laboratory features. Many patients with NBO are misdiagnosed as BO and receive unnecessary antibiotics and surgery. Our study aimed to compare clinical and laboratory features of NBO and BO in children, to define key discriminative criteria, and to create an NBO diagnostic score (NBODS).MethodsThe retrospective multicenter cohort study included clinical, laboratory, and instrumental information about histologically confirmed NBO (nβ=β91) and BO (nβ=β31). The variables allowed us to differentiate both conditions used to construct and validate the NBO DS.ResultsThe main differences between NBO and BO are as follows: onset ageβ7.3 (2.5; 10.6) vs. 10.5 (6.5; 12.7) years (pβ=β0.03), frequency of fever (34.1% vs. 90.6%, pβ=β0.0000001), symptomatic arthritis (67% vs. 28.1%, pβ=β0.0001), monofocal involvement (28.6% vs. 100%, pβ=β0.0000001), spine (32% vs. 6%, pβ=β0.004), femur (41% vs. 13%, pβ=β0.004), foot bones (40% vs. 13%, pβ=β0.005), clavicula (11% vs. 0%, pβ=β0.05), and sternum (11% vs. 0%, pβ=β0.039) involvement. The following four criteria are included in the NBO DS: CRPββ€β55β
mg/l (56 points), multifocal involvement (27 points), femur involvement (17 points), and neutrophil bandsββ€β220β
cell/ΞΌl (15 points). The sumβ>β17 points allowed to differentiate NBO from BO with a sensitivity of 89.0% and a specificity of 96.9%.ConclusionThe diagnostic criteria may help discriminate NBO and BO and avoid excessive antibacterial treatment and surgery
How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms
Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatoryΒ cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial Mediterranean fever;Β cryopyrin-associated periodic syndrome (familial cold urticaria, Muckle β Wells syndrome, CINCA/NOMID syndrome); tumor necrosis factor-Ξ± receptor-associatedΒ periodic syndrome; hyperimmunoglobulinemia D syndrome; periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome. An inheritance pattern andΒ molecular defects are characterized for each disease. The principles of diagnosis and therapy are described. The role of interleukin-1 blockers in the therapy of AIS isΒ defined. The most important symptoms that can be used to detect the major forms of AIS are identified. The Gaslini score, a special formula using the clinical symptomsΒ to identify patients at high risk for AIS who need genetic typing and those at low risk for AIS, is described. A clinical diagnostic algorithm is presented, which canΒ be used to detect patients with AIS and to determine indications to and the time of molecular genetic typing, and to choose priority genes
Standard and increased canakinumab dosing to quiet macrophage activation syndrome in children with systemic juvenile idiopathic arthritis
ObjectiveMacrophage activation syndrome (MAS) is a life-threatening, potentially fatal condition associated with systemic juvenile idiopathic arthritis (sJIA). Interleukin-1 (IL-1) is a key cytokine in the pathogenesis of sJIA MAS. Many cases of MAS are medically refractory to traditional doses of biologic cytokine inhibitors and may require increased dosing. When MAS occurs in the setting of sJIA treated with the IL-1 receptor antagonist (IL-1Ra), anakinra, increased anakinra dosing may be beneficial. Increased dosing of another IL-1 inhibitor, canakinumab, a monoclonal antibody to IL-1Ξ², has not been reported to treat refractory MAS in the setting of sJIA.MethodsRetrospective data collection extracted from the electronic medical record focused on canakinumab usage and dosing in 8 children with sJIA who developed MAS at a single academic center from 2011 to 2020.ResultsEight sJIA children (five girls) with median age 8.5 years (range, 0.9β14.2 years) were included in the present study. Five children developed MAS at disease onset and three during ongoing canakinumab therapy. MAS resolved in all eight children with canakinumab treatment. When the canakinumab dosing was insufficient or MAS developed during canakinumab therapy, the dosing was temporally up-titrated (four patients, maximum 300 mg per dose) without observed side effects.ConclusionThis report provides evidence for the efficacy and safety of short-term increased doses (2β3-times normal) of canakinumab in treating sJIA associated MAS. Further study of the efficacy and safety of increased doses of canakinumab for treatment of MAS in children with sJIA is warranted
ΠΠ°ΠΊ ΡΠ°ΡΠΏΠΎΠ·Π½Π°ΡΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° Ρ Π°ΡΡΠΎΠ²ΠΎΡΠΏΠ°Π»ΠΈΡΠ΅Π»ΡΠ½ΡΠΌ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ: ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Π°Π»Π³ΠΎΡΠΈΡΠΌΡ
Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatoryΒ cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern. The paper describes major AISs, such as familial Mediterranean fever;Β cryopyrin-associated periodic syndrome (familial cold urticaria, Muckle β Wells syndrome, CINCA/NOMID syndrome); tumor necrosis factor-Ξ± receptor-associatedΒ periodic syndrome; hyperimmunoglobulinemia D syndrome; periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome. An inheritance pattern andΒ molecular defects are characterized for each disease. The principles of diagnosis and therapy are described. The role of interleukin-1 blockers in the therapy of AIS isΒ defined. The most important symptoms that can be used to detect the major forms of AIS are identified. The Gaslini score, a special formula using the clinical symptomsΒ to identify patients at high risk for AIS who need genetic typing and those at low risk for AIS, is described. A clinical diagnostic algorithm is presented, which canΒ be used to detect patients with AIS and to determine indications to and the time of molecular genetic typing, and to choose priority genes.ΠΡΡΠΎΠ²ΠΎΡΠΏΠ°Π»ΠΈΡΠ΅Π»ΡΠ½ΡΠ΅ ΡΠΈΠ½Π΄ΡΠΎΠΌΡ (ΠΠΠ‘) β Π³ΡΡΠΏΠΏΠ° ΠΏΡΠ΅ΠΈΠΌΡΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ, ΡΠ²ΡΠ·Π°Π½Π½ΡΡ
ΡΠΎ ΡΠΏΠΎΠ½ΡΠ°Π½Π½ΠΎΠΉ Π½Π΅ΠΊΠΎΠ½ΡΡΠΎΠ»ΠΈΡΡΠ΅ΠΌΠΎΠΉ ΠΏΡΠΎΠ΄ΡΠΊΡΠΈΠ΅ΠΉ ΠΏΡΠΎΠ²ΠΎΡΠΏΠ°Π»ΠΈΡΠ΅Π»ΡΠ½ΡΡ
ΡΠΈΡΠΎΠΊΠΈΠ½ΠΎΠ². ΠΠ»Ρ Π±ΠΎΠ»ΡΡΠΈΠ½ΡΡΠ²Π° Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ ΠΈΠ·Π²Π΅ΡΡΠ½Ρ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΡΠ΅ ΠΌΠ΅Ρ
Π°Π½ΠΈΠ·ΠΌΡ ΠΈ ΡΠΈΠΏ Π½Π°ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ. ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΎ ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅Β ΠΎΡΠ½ΠΎΠ²Π½ΡΡ
ΠΠΠ‘, ΡΠ°ΠΊΠΈΡ
ΠΊΠ°ΠΊ ΡΠ΅ΠΌΠ΅ΠΉΠ½Π°Ρ ΡΡΠ΅Π΄ΠΈΠ·Π΅ΠΌΠ½ΠΎΠΌΠΎΡΡΠΊΠ°Ρ Π»ΠΈΡ
ΠΎΡΠ°Π΄ΠΊΠ°, ΠΊΡΠΈΠΎΠΏΠΈΡΠΈΠ½-Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ ΠΏΠ΅ΡΠΈΠΎΠ΄ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠΈΠ½Π΄ΡΠΎΠΌ (ΡΠ΅ΠΌΠ΅ΠΉΠ½Π°Ρ Ρ
ΠΎΠ»ΠΎΠ΄ΠΎΠ²Π°Ρ ΠΊΡΠ°ΠΏΠΈΠ²Π½ΠΈΡΠ°, ΡΠΈΠ½Π΄ΡΠΎΠΌ Muckle β Wells, ΡΠΈΠ½Π΄ΡΠΎΠΌ CINCA/NOMID), ΠΏΠ΅ΡΠΈΠΎΠ΄ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠΈΠ½Π΄ΡΠΎΠΌ, ΡΠ²ΡΠ·Π°Π½Π½ΡΠΉ Ρ ΠΌΡΡΠ°ΡΠΈΠ΅ΠΉ Π² Π³Π΅Π½Π΅ ΡΠ΅ΡΠ΅ΠΏΡΠΎΡΠ° ΡΠ°ΠΊΡΠΎΡΠ° Π½Π΅ΠΊΡΠΎΠ·Π° ΠΎΠΏΡΡ
ΠΎΠ»ΠΈΒ (Π€ΠΠ) Ξ±, ΡΠΈΠ½Π΄ΡΠΎΠΌ Π³ΠΈΠΏΠ΅ΡΠΈΠΌΠΌΡΠ½ΠΎΠ³Π»ΠΎΠ±ΡΠ»ΠΈΠ½Π΅ΠΌΠΈΠΈ D, ΡΠΈΠ½Π΄ΡΠΎΠΌ ΠΏΠ΅ΡΠΈΠΎΠ΄ΠΈΡΠ΅ΡΠΊΠΎΠΉ Π»ΠΈΡ
ΠΎΡΠ°Π΄ΠΊΠΈ Ρ Π°Π΄Π΅Π½ΠΈΡΠΎΠΌ, ΡΠ°ΡΠΈΠ½Π³ΠΈΡΠΎΠΌ ΠΈ Π°ΡΡΠΎΠ·Π½ΡΠΌ ΡΡΠΎΠΌΠ°ΡΠΈΡΠΎΠΌ. ΠΠ»Ρ ΠΊΠ°ΠΆΠ΄ΠΎΠ³ΠΎ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ Π΄Π°Π½Ρ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠ° ΡΠΈΠΏΠ° Π½Π°ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ, ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΡΠΉ Π΄Π΅ΡΠ΅ΠΊΡ. ΠΠΏΠΈΡΠ°Π½Ρ ΠΏΡΠΈΠ½ΡΠΈΠΏΡ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ ΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ. ΠΠΏΡΠ΅Π΄Π΅Π»Π΅Π½Π° ΡΠΎΠ»Ρ Π±Π»ΠΎΠΊΠ°ΡΠΎΡΠΎΠ² ΠΈΠ½ΡΠ΅ΡΠ»Π΅ΠΉΠΊΠΈΠ½Π° 1 Π² ΡΠ΅ΡΠ°ΠΏΠΈΠΈ ΠΠΠ‘. ΠΡΠ΄Π΅Π»Π΅Π½Ρ Π²Π°ΠΆΠ½Π΅ΠΉΡΠΈΠ΅ ΡΠΈΠΌΠΏΡΠΎΠΌΡ, ΠΏΡΠΈ ΠΏΠΎΠΌΠΎΡΠΈ ΠΊΠΎΡΠΎΡΡΡ
ΠΌΠΎΠΆΠ½ΠΎ ΡΠ°ΡΠΏΠΎΠ·Π½Π°ΡΡ ΠΎΡΠ½ΠΎΠ²Π½ΡΠ΅ ΡΠΎΡΠΌΡ ΠΠΠ‘. ΠΡΠΈΠ²Π΅Π΄Π΅Π½Π° Gaslini score β ΡΠΏΠ΅ΡΠΈΠ°Π»ΡΠ½Π°Ρ ΡΠΎΡΠΌΡΠ»Π°, ΠΏΠΎΠ·Π²ΠΎΠ»ΡΡΡΠ°Ρ Π½Π° ΠΎΡΠ½ΠΎΠ²Π°Π½ΠΈΠΈ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠΈΠΌΠΏΡΠΎΠΌΠΎΠ² Π²ΡΠ΄Π΅Π»ΠΈΡΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π²ΡΡΠΎΠΊΠΎ Π²Π΅ΡΠΎΡΡΠ½ΡΠΌ ΠΠΠ‘, ΠΊΠΎΡΠΎΡΡΠΌΒ Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΠΎ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅, ΠΈ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ², Ρ ΠΊΠΎΡΠΎΡΡΡ
Π²Π΅ΡΠΎΡΡΠ½ΠΎΡΡΡ ΠΠΠ‘ Π½Π΅Π²Π΅Π»ΠΈΠΊΠ°. ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°Π»Π³ΠΎΡΠΈΡΠΌ, Ρ ΠΏΠΎΠΌΠΎΡΡΡ ΠΊΠΎΡΠΎΡΠΎΠ³ΠΎ ΠΌΠΎΠΆΠ½ΠΎ ΡΠ°ΡΠΏΠΎΠ·Π½Π°ΡΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ ΠΠΠ‘ Π±Π΅Π· ΠΎΡΡΠ΅ΡΠ»ΠΈΠ²ΠΎΠΉ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΊΠ°ΡΡΠΈΠ½Ρ ΠΈ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΠΈΡΡ ΠΏΠΎΠΊΠ°Π·Π°Π½ΠΈΡ ΠΈ ΡΡΠΎΠΊΠΈ Π²ΡΠΏΠΎΠ»Π½Π΅Π½ΠΈΡ ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΈΠΏΠΈΡΠΎΠ²Π°Π½ΠΈΡ, Π²ΡΠ±ΡΠ°ΡΡ ΠΏΡΠΈΠΎΡΠΈΡΠ΅ΡΠ½ΡΠ΅ Π³Π΅Π½Ρ
Current Approaches to PANS/PANDAS Diagnostics and Management
PANS, or Pediatric Acute-onset Neuropsychiatric Syndrome, is characterized by the sudden onset of obsessive-compulsive syndrome and accompanied by anxiety, emotional lability and other symptoms. PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections, is a subtype of PANS. Modern data on PANS/PANDAS etiology, pathogenesis, diagnostics and management is presented in this article. Therapeutic decisions on using anti-inflammatory and immunotropic therapy including non-steroidal anti-inflammatory drugs, glucocorticoids, intravenous immunoglobulin, plasmapheresis, rituximab and mycophenolate mofetil are analysed