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  • 1
    Online Resource
    Online Resource
    Juvenile Dermatomyositis and Infantile Cerebral Palsy: Aicardi-Gouteres Syndrome, Type 5, with a Novel Mutation in SAMHD1—A Case Report
    MDPI AG ; 2023
    In:  Biomedicines Vol. 11, No. 6 ( 2023-06-12), p. 1693-
    Details
    In: Biomedicines, MDPI AG, Vol. 11, No. 6 ( 2023-06-12), p. 1693-
    Abstract: Introduction: Aicardi-Gouteres syndrome (AGS) is a monogenic interferonopathy characterized by early onset, dysregulation of skin (chilblain lesions), brain, and immune systems (fever, hepatomegaly, glaucoma, arthritis, myositis, and autoimmune activity). The disease looks like TORCH (Toxoplasmosis, Others, Rubella, Cytomegalovirus, Herpes) infection with early-onset encephalopathy resulting in severe neuropsychological disability. Case description: A six-year-old girl has been suffering from generalized seizures, fever episodes, severe psychomotor development delay, and spastic tetraparesis since the first year of her life. Her two elder brothers died at a young age from suspected infantile cerebral palsy (ICP). Other siblings (younger brother and two elder sisters) are as healthy as their parents. The girl was diagnosed with juvenile dermatomyositis at 5.5 years. Basal ganglia, periventricular, and cerebellum calcifications; hypoplasia of the corpus callosum; and leukodystrophy were detected on CT. The IFN-I score was 12 times higher than normal. The previously not described nucleotide variant c.434G 〉 C (chr 20:36935104C 〉 G; NM_015474) was detected in exon 4 of the SAMHD1 gene in the homozygous state, leading to amino acid substitution p.R145P. Aicardi-Goutières syndrome 5 was diagnosed. Her treatment included corticosteroids, methotrexate, and tofacitinib 5 mg twice a day and it contributed to health improvements. The following brain CT depicted the previously discovered changes without the sign of calcification spreading. Conclusions: Early diagnosis of AGS is highly important as it allows starting treatment in a timely manner. Timely treatment, in return, can help avoid the development/progression of end-organ damage, including severe neurological complications and early death. It is necessary to spread information about AGS among neurologists, neonatologists, infectious disease specialists, and pediatricians. A multidisciplinary team approach is required.
    Type of Medium: Online Resource
    ISSN: 2227-9059
    URL: Article
    DOI: 10.3390/biomedicines11061693
    Language: English
    Publisher: MDPI AG
    Publication Date: 2023
    detail.hit.zdb_id: 2720867-9
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  • 2
    Online Resource
    Online Resource
    Juvenile Localized Scleroderma from the Perspective of Pediatric Rheumatologist. Aspects of Diagnostics
    Paediatrician Publishers LLC ; 2020
    In:  Current Pediatrics Vol. 19, No. 2 ( 2020-06-21), p. 150-161
    Details
    In: Current Pediatrics, Paediatrician Publishers LLC, Vol. 19, No. 2 ( 2020-06-21), p. 150-161
    Type of Medium: Online Resource
    ISSN: 1682-5535 , 1682-5527
    URL: Article
    DOI: 10.15690/vsp.v19i2.2109
    Language: Unknown
    Publisher: Paediatrician Publishers LLC
    Publication Date: 2020
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  • 3
    Online Resource
    Online Resource
    Juvenile Localized Scleroderma. Questions of Treatment
    Paediatrician Publishers LLC ; 2020
    In:  Current Pediatrics Vol. 19, No. 3 ( 2020-08-10), p. 228-234
    Details
    In: Current Pediatrics, Paediatrician Publishers LLC, Vol. 19, No. 3 ( 2020-08-10), p. 228-234
    Abstract: Juvenile localized scleroderma (JLS) is a group of childhood diseases with the main symptom — skin and subcutaneous structures lesions, without any organ involvement. There is active (inflammatory) and fibrotic phase in development of JLS. The JLS treatment during active phase (when skin lesions are reversible) is the most effective. The management is determined by the area and depth of skin lesions, appearance and spread of new lesions, presence of extracutaneous signs of the disease. Topical and systemic immunosuppressants are the basic therapy for JLS. The use of antibiotics is not suggested. Clinical scores (LoSCAT), ultrasound, thermography and magnetic resonance imaging are recommended to estimate the treatment efficacy.
    Type of Medium: Online Resource
    ISSN: 1682-5535 , 1682-5527
    URL: Article
    DOI: 10.15690/vsp.v19i3.2119
    Language: Unknown
    Publisher: Paediatrician Publishers LLC
    Publication Date: 2020
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  • 4
    Online Resource
    Online Resource
    An unusual case of enterovirus infection with polymyositis and severe necrotizing retinovasculitis in a 10-year-old boy
    Oxford University Press (OUP) ; 2022
    In:  Rheumatology Vol. 61, No. 4 ( 2022-04-11), p. e97-e99
    Details
    In: Rheumatology, Oxford University Press (OUP), Vol. 61, No. 4 ( 2022-04-11), p. e97-e99
    Type of Medium: Online Resource
    ISSN: 1462-0324 , 1462-0332
    URL: Article
    DOI: 10.1093/rheumatology/keab813
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2022
    detail.hit.zdb_id: 1474143-X
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  • 5
    Online Resource
    Online Resource
    The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 10 ( 2022-2-8)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-2-8)
    Abstract: JAK-inhibitors are small molecules blocking the JAK-STAT pathway that have proven effective in the treatment of different immune-mediated diseases in adults and juvenile idiopathic arthritis (JIA). Aim of Study To evaluate the safety and efficacy of tofacitinib in children with different rheumatic diseases. Material and Methods We extracted information from 24 children with the following diagnosis: JIA ( n = 15), undifferentiated systemic autoinflammatory diseases (SAIDs) ( n = 7), and juvenile dermatomyositis (JDM) ( n = 2) who have been treated with tofacitinib for a period of longer than 6 months. The treatment outcomes were classified according to the opinion of the attending physicians as having a complete response (CR), i.e., the absence of disease activity, or a partial response (PR)—a significant improvement of symptoms and disease activity, or no response (NR)—no changes in disease activity. Results CR was achieved in 10/24 patients; 7/15 among JIA patients, 1/2 among JDM patients, 4/7 among SAID patients, and PR in 5/15 of JIA, 1/2 of JDM, and 3/7 of SAID patients. Three non-responders with JIA discontinued tofacitinib. Corticosteroids were successfully tapered off in 11/14 patients and discontinued in 2/14 patients. Four patients had side effects not requiring treatment discontinuation: liver enzyme elevation ( n = 2), hypercholesterolemia ( n = 1), lymphadenitis ( n = 1). Conclusion JAK-inhibitors are effective new therapies for the treatment of multiple immune-mediated diseases. Our experience has shown the best results in patients with JIA and JIA-associated alopecia, and type I interferonopathies. More data from randomized controlled clinical trials are needed to use JAK-inhibitors safely in pediatric rheumatic diseases.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2022.820586
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 6
    Online Resource
    Online Resource
    Hip Involvement in Juvenile Idiopathic Arthritis: A Roadmap From Arthritis to Total Hip Arthroplasty or How Can We Prevent Hip Damage?
    Frontiers Media SA ; 2021
    In:  Frontiers in Pediatrics Vol. 9 ( 2021-11-5)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 9 ( 2021-11-5)
    Abstract: Objectives: To describe the clinical characteristics of hip involvement in juvenile idiopathic arthritis (JIA) from arthritis to hip osteoarthritis (HOA) and total hip arthroplasty (THA). Study Design: Seven hundred fifty-three patients aged 2–17 years with JIA were included in the study. The comparison analysis was performed between the following subgroups: (i) JIA without hip involvement ( n = 600; 79.7%) vs. JIA with hip involvement without HOA ( n = 105; 13.9%), (ii) JIA with hip involvement with HOA, but without THA ( n = 32; 4.3%) and JIA with hip involvement with HOA and with THA ( n = 16; 2.1%). Clinical, laboratory characteristics and treatment regimens compared. Results: Hip involvement was present in 20.3% of patients. HOA was present in 6.4% (12 * 1,000 patient-years) of the entire JIA group and 31.4% of patients with hip involvement. Sixteen patients (2.1%; 4.0 * 1,000 patient-years) required THA. The following factors were associated with HOA: sJIA (OR = 3.6, p = 0.008; HR = 3.0, p = 0.002), delayed remission (OR = 4.2, p = 0.004; HR = 1.4, p = 0.538), delay in biologic therapy initiation (OR = 7.5, p = 0.00001; HR = 6.7, p = 0.002), alkaline phosphatase & lt;165 U\l (OR = 4.1, p = 0.0003; HR = 5.2, p = 0.000004), treatment with corticosteroids (CS) (OR = 2.6, p = 0.008; HR = 1.2, p = 0.670), cumulative corticosteroids & gt;2,700 mg (OR = 4.3, p = 0.032; HR = 1.4, p = 0.527). The following factors were associated with THA: delay in biologic treatment initiation (OR = 1.04, p = 0.0001; HR = 9.1, p = 0.034), delayed hip involvement (OR = 5.2, p = 0.002; HR = 3.0, p = 0.044), and methylprednisolone pulse therapy (OR = 10.8, p = 0.0000001; HR = 5.6, p = 0.002). Conclusion: Both sJIA and systemic CS, impaired calcium-phosphorus metabolism, and delayed hip arthritis are associated with HOA development in JIA. HOA is considered to be a severe adverse event of CS treatment, especially delayed hip involvement.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2021.747779
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2711999-3
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  • 7
    Online Resource
    Online Resource
    Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report
    Frontiers Media SA ; 2022
    In:  Frontiers in Pediatrics Vol. 10 ( 2022-6-16)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 10 ( 2022-6-16)
    Abstract: There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin brothers developed SLE at the age of 11 years during 1 month. The index brother manifested with Henoch-Shonlein purpura, accompanied by ANA positivity, and later developed critical left femoral arterial stenosis with high levels of anti-dsDNA, antiphospholipid antibodies, hypocomplementemia, and Coombs-positive hemolytic anemia. At that time his twin brother had only identical autoimmune findings and developed clinical manifestation (myositis and fasciitis) a month later. Both twins had increased IFN-score and shared a heterozygous variant in the RNASEL gene. Index patients developed scalp rash and nephritis 6 months after their parents refused the treatment which has been lasted for 1 year after disease diagnostics. Conclusion The simultaneous onset of the pediatric SLE in the male twin is a very rare situation suspected monogenic origin of the disease. Further functional studies are required to confirm the causative role of the mutation.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    DOI: 10.3389/fped.2022.929358
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2711999-3
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  • 8
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    Online Resource
    Preservation of Postvaccinal Immunity to Measles, Rubella, Parotitis, Hepatitis B and Diphtheria in Patients With Juvenile Idiopathic Arthritis Who Undergone Planned Immunization Under the Age of Two: Preliminary Results of Cross-Sectional Study
    Paediatrician Publishers LLC ; 2020
    In:  Current Pediatrics Vol. 18, No. 6 ( 2020-02-18), p. 435-441
    Details
    In: Current Pediatrics, Paediatrician Publishers LLC, Vol. 18, No. 6 ( 2020-02-18), p. 435-441
    Type of Medium: Online Resource
    ISSN: 1682-5535 , 1682-5527
    URL: Article
    DOI: 10.15690/vsp.v18i6.2063
    Language: Unknown
    Publisher: Paediatrician Publishers LLC
    Publication Date: 2020
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  • 9
    Online Resource
    Online Resource
    Enthesitis-related arthritis in children: A literature review of the clinical features and differential diagnosis
    ECO-Vector LLC ; 2023
    In:  Pediatric Traumatology, Orthopaedics and Reconstructive Surgery Vol. 11, No. 1 ( 2023-04-08), p. 105-120
    Details
    In: Pediatric Traumatology, Orthopaedics and Reconstructive Surgery, ECO-Vector LLC, Vol. 11, No. 1 ( 2023-04-08), p. 105-120
    Abstract: BACKGROUND: Enthesitis-related arthritis is one of the subtypes of juvenile idiopathic arthritis and is characterized by the involvement of the joints, enthesitis, and axial skeleton (sacroiliitis and spondylitis). The clinical variability of enthesitis-related arthritis and similar manifestations with orthopedic diseases present difficulties in diagnosis. AIM: To present the clinical features of enthesitis-related arthritis and issues of differential diagnosis based on literature analysis. MATERIALS AND METHODS: A literature search was conducted in the open electronic databases of eLibrary, PubMed, and Cochrane Library. In total, 46 foreign and 4 Russian publications were analyzed, which were limited to 19812021. The keywords used in the literature search were as follows: enthesitis, enthesitis-related arthritis, juvenile spondyloarthritis, and SAPHO syndrome. Own archive data for instrumental investigations were used in the article. RESULTS: The clinical manifestations can be variable, and laboratory tests do not always allow us to prove the inflammatory nature of the pain syndrome. The most priority diagnostic tests were imaging methods, namely, magnetic resonance imaging and ultrasonography. The greatest diagnostic difficulty was found in patients in whom enthesitis prevailed over arthritis, and in some cases, it was the only disease manifestation. The classification criteria used for the diagnosis of EAA were considered. The differential diagnosis of enthesitis included various orthopedic diseases. Ultrasound diagnostics of joints and enthesis should be performed in every patient with local pain musculoskeletal symptoms, which allows patients to be correctly routed. CONCLUSIONS: The alertness of both orthopedists in relation to enthesitis-related arthritis and the awareness of rheumatologists of the most common orthopedic diseases that affect the entheses are necessary.
    Type of Medium: Online Resource
    ISSN: 2410-8731 , 2309-3994
    URL: Issue
    URL: Article
    DOI: 10.17816/PTORS.111
    DOI: 10.17816/PTORS119532
    Language: Unknown
    Publisher: ECO-Vector LLC
    Publication Date: 2023
    detail.hit.zdb_id: 3046142-X
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