A gyermekkori uveitis klinikai jellemzői és                     terápiája

Abstract: Introduction: Uveitis is characterized by inflammation of the middle layer of the eye. Its overall incidence is low. Autoimmune diseases and infections are the most common underlying diseases. Out of the autoimmune diseases, juvenile idiopathic arthritis is associated most frequently with uveitis. The topical ophthalmological treatment may fail in a significant proportion of the patients and immunomodulatory therapy may be required. Aim and method: In a retrospective study, data of 33 children diagnosed and treated with uveitis at the Department of Pediatrics and Ophthalmology, University of Pécs during the last 5 years were collected and analyzed. Results: The mean age of the patients was 9.3 (0.3–17.8) years. Boys and girls were equally affected with an exception of patients with juvenile idiopathic arthritis where female predominance was found. An underlying disease could be identified in 60% of the cases (20/33). Uveitis was associated in 12 patients with juvenile idiopathic arthritis, in 2 patients with Behcet’s disease and in a single case with inflammatory bowel disease. Infections have been proven in 5 patients. The autoimmune diseases caused an eye inflammation typically in anterior localization, in contrast to the infections that resulted in posterior uveitis. The majority of the patients required systemic treatment. 3 of them received systemic corticosteroid and 18 patients methotrexate as disease-modifying antirheumatic drug. 13 children with severe disease activity required biological therapy (adalimumab injection). Remission could be achieved in 1.45 (0.75–2.5) months. Conclusion: Pediatric uveitis is of great importance. Early diagnosis, adequate therapy and follow-up require multidisciplinary cooperation. Orv Hetil. 2019; 160(34): 1335–1339.

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AB0267 HOW EFFECTIVE IS PAIN MANAGEMENT IN THE PATIENTS’ OPINION? DATA FROM THE COMPAS STUDY

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2021-eular.2806 ◽

2021 ◽

Vol 80 (Suppl 1) ◽

pp. 1160.1-1160

Author(s):

E. Pogozheva ◽

A. Karateev ◽

V. Amirdzhanova

Keyword(s):

Pain Management ◽

Pain Therapy ◽

Significant Proportion ◽

Connective Tissue Diseases ◽

Underlying Disease ◽

Additional Treatment ◽

Results Of Treatment ◽

Analgesic Therapy ◽

Folk Remedies ◽

Personalized Approach

Objectives:to evaluate the effectiveness and satisfaction of pain management in patients with rheumatic diseases (RD) according to a survey in the COMPAS (Quality of Pain Management according to Patients with Arthritis and Back pain) study.Methods:the survey involved 1040 patients with RD (rheumatoid arthritis-40.6%, osteoarthritis -32.1%, spondyloarthritis-10.6%, connective tissue diseases-8.6% of patients). 76.8% were women, the mean age was 55.8±14.0 years. 35.7% of patients continued to work in their specialty, 31.6% had various degrees of disability. The effectiveness of pain therapy was evaluated by the patient in the last month preceding the survey on a 5-point scale, where 1 - no effect and 5-excellent effect. Patients ‘ satisfaction with treatment, possible reasons for the lack of effectiveness of pain therapy and the use of additional treatment tools were also evaluated.Results:as therapy for the underlying disease, 40% of patients received conventional disease modifying antirheumatic drugs, 33.1% - glucocorticoids, 7.2% - biological agents and 15.2% - symptomatic slow-acting drugs in osteoarthritis. At the same time, 68% of patients needed additional analgesic therapy with nonsteroidal anti-inflammatory drugs (NSAIDs). Slightly less than half of the surveyed patients (46.9%) noted a moderate effect of analgesic therapy, 22.7% - a low effect and 5% - no effect, 23.7% rated the effectiveness of therapy as good and only 1.7% - as excellent. At the same time, only 15.6% of patients were completely satisfied with the result of NSAIDs, 64% were partially satisfied with the treatment and 20.4% were completely dissatisfied. As the reason of insufficient effectiveness of NSAIDs, most often (34.3%) patients named fear of adverse events associated with taking drugs, 19.4% - weak drugs, 15.3% - insufficient attention of doctors to complaints, 6.6% - poor diagnosis of the causes of pain. Others found it difficult to answer or were completely satisfied with the treatment. 40% of patients used additional methods, most often chiropractic (12.3%), acupuncture (4.8%), physiotherapy (12.7%) and folk remedies (7.4%).Conclusion:A significant proportion of patients with RD don’t have adequate pain control. Only 25.4% of patients rate the result of treatment as good and excellent, and even fewer patients (15.6%) are completely satisfied with the results of therapy. Thus, a personalized approach to analgesic therapy is necessary, taking into account the expectations of patients regarding the results of treatment.Disclosure of Interests:None declared

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Association analysis of juvenile idiopathic arthritis genetic susceptibility factors in Estonian patients

Clinical Rheumatology ◽

10.1007/s10067-021-05756-x ◽

2021 ◽

Author(s):

Tiit Nikopensius ◽

Priit Niibo ◽

Toomas Haller ◽

Triin Jagomägi ◽

Ülle Voog-Oras ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Juvenile Idiopathic Arthritis ◽

Autoimmune Diseases ◽

Genetic Risk ◽

Association Studies ◽

Control Sample ◽

Case Control ◽

Genome Wide Association ◽

Genome Wide Association Studies ◽

Genome Wide

Abstract Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition of childhood. Genetic association studies have revealed several JIA susceptibility loci with the strongest effect size observed in the human leukocyte antigen (HLA) region. Genome-wide association studies have augmented the number of JIA-associated loci, particularly for non-HLA genes. The aim of this study was to identify new associations at non-HLA loci predisposing to the risk of JIA development in Estonian patients. Methods We performed genome-wide association analyses in an entire JIA case–control sample (All-JIA) and in a case–control sample for oligoarticular JIA, the most prevalent JIA subtype. The entire cohort was genotyped using the Illumina HumanOmniExpress BeadChip arrays. After imputation, 16,583,468 variants were analyzed in 263 cases and 6956 controls. Results We demonstrated nominal evidence of association for 12 novel non-HLA loci not previously implicated in JIA predisposition. We replicated known JIA associations in CLEC16A and VCTN1 regions in the oligoarticular JIA sample. The strongest associations in the All-JIA analysis were identified at PRKG1 (P = 2,54 × 10−6), LTBP1 (P = 9,45 × 10−6), and ELMO1 (P = 1,05 × 10−5). In the oligoarticular JIA analysis, the strongest associations were identified at NFIA (P = 5,05 × 10−6), LTBP1 (P = 9,95 × 10−6), MX1 (P = 1,65 × 10−5), and CD200R1 (P = 2,59 × 10−5). Conclusion This study increases the number of known JIA risk loci and provides additional evidence for the existence of overlapping genetic risk loci between JIA and other autoimmune diseases, particularly rheumatoid arthritis. The reported loci are involved in molecular pathways of immunological relevance and likely represent genomic regions that confer susceptibility to JIA in Estonian patients. Key Points• Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease with heterogeneous presentation and genetic predisposition.• Present genome-wide association study for Estonian JIA patients is first of its kind in Northern and Northeastern Europe.• The results of the present study increase the knowledge about JIA risk loci replicating some previously described associations, so adding weight to their relevance and describing novel loci.• The study provides additional evidence for the existence of overlapping genetic risk loci between JIA and other autoimmune diseases, particularly rheumatoid arthritis.

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Phenylketonuria and juvenile idiopathic arthritis: a case report

BMC Pediatrics ◽

10.1186/s12887-021-02602-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Ting Ting Zhu ◽

Jin Wu ◽

Li Yuan Wang ◽

Xiao Mei Sun

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Case Report ◽

Autoimmune Diseases ◽

Hip Joint ◽

Metabolic Disorder ◽

Rare Case ◽

Molecular Data ◽

Methotrexate Therapy ◽

Case Presentation

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.

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AB0980 CASE-REVIEW ON FAMILIAL MEDITERRANEAN FEVER IN A SPECIALIZED CENTRE

Annals of the Rheumatic Diseases ◽

10.1136/annrheumdis-2020-eular.1355 ◽

2020 ◽

Vol 79 (Suppl 1) ◽

pp. 1784.1-1784

Author(s):

R. Dos Santos Sobrín ◽

M. Martí Masanet ◽

B. Lopez-Montesinos ◽

L. Lacruz Pérez ◽

I. Calvo

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Familial Mediterranean Fever ◽

Periodic Fever ◽

Severe Disease ◽

Strong Association ◽

Mefv Gene ◽

Systemic Juvenile Idiopathic Arthritis ◽

Case Series ◽

Case Review ◽

Mediterranean Fever

Background:Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder caused mostly by mutations in MEFV gene. Its inheritance is autosomal recessive and is the most frequent periodic fever syndrome. First-line treatment is based in colchicine use, so biologics (anti-IL-1) are reserved for refractory cases1, 2.Objectives:To account for clinic and treatment features of patients with FMF in a specialized center as opposed to non-referent centers.Methods:This study was developed in the Pediatric Rheumatology Service in Hospital Universitario y Politécnico La Fe de Valencia. Demographic, clinic and treatment data were collected from patients diagnosed of FMF since January 2004 to September 2019.Results:106 patients met last FMF criteria3. 55% had a pathogenic mutation in genetic analysis. 52% were female. Before 10 years old, 71% of patients had the diagnosis (51% before 4 years old). Arthralgia/myalgia (73%), periodic fever (62%) and abdominal pain (54%) were the most common symptoms. Systemic Juvenile Idiopathic Arthritis (JIA, 6), other forms of JIA (9) and vasculitis (10) were the most prevalent comorbidities. When talking about treatment, 76,4% received Colchicine (60,5% with good response), 22,6% needed a classical disease modifying antirheumatic drug (mostly Methotrexate) and 22 patients got biologic treatment (73% anti-IL-1).Conclusion:When analyzing this case-review, JIA has a strong association with our patients, so it could explain severe disease activity and more articular involvement. This could be an illustration to the higher use of Methotrexate. Also, the most relevant symptom was arthralgia while fever is the most frequent in literature. Likewise, age of diagnosis has been earlier than other case-series (this would be more frequent in other autoinflammatory syndromes, as literature relates)1, 2, 4.References:[1]Ozdogan H, Ugurlu S. Familial Mediterranean Fever. Presse Med. (2019).[2]Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis 2016;75:644-651.[3]Sag E, Demirel D, Demir S, et al. Performance of the new “Eurofever/PRINTO classification criteria” in FMF patients. Semin Arthritis Rheum. 2019;19:30369-5.[4]Rozenbaum M, Rosner I. Severe outcome of juvenile idiopathic arthritis (JIA) associated with familial Mediterranean fever (FMF). Clin Exp Rheumatol. 2004;22:S75-8.Disclosure of Interests:Raquel Dos Santos Sobrín: None declared, Miguel Martí Masanet: None declared, B Lopez-Montesinos: None declared, Lucía Lacruz Pérez: None declared, Inmaculada Calvo Grant/research support from: Bristol-Myers Squibb, Clementia, GlaxoSmithKline, Hoffman-La Roche, Merck Sharpe & Dohme, Novartis, Pfizer, Sanofi, Speakers bureau: AbbVie, GlaxoSmithKline, Hoffman-La Roche, Novartis

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Pathological findings in rotation thromboelastometry associated with thromboembolic events in COVID-19 patients

Thrombosis Journal ◽

10.1186/s12959-021-00263-0 ◽

2021 ◽

Vol 19 (1) ◽

Cited By ~ 1

Author(s):

Kristina Boss ◽

Andreas Kribben ◽

Bartosz Tyczynski

Keyword(s):

Severe Sepsis ◽

Severe Disease ◽

Study Data ◽

Sepsis Group ◽

Similar Data ◽

Disease Course ◽

Thromboembolic Events ◽

Pathological Findings ◽

Fibrinolysis Shutdown ◽

Maximum Clot Firmness

Abstract Background Severe thromboembolic events are one of the major complications associated with COVID-19 infection, especially among critically ill patients. We analysed ROTEM measurements in COVID-19 patients with a severe disease course and in patients with severe sepsis. Methods In this study, data obtained by extended analysis of haemostasis with standard laboratory tests and thromboelastometry of 20 patients with severe course of COVID-19 were retrospectively analysed and compared with similar data from 20 patients with severe sepsis but no COVID-19. Results The thromboelastometry values obtained from 20 sepsis patients contained a maximum clot firmness above the normal range but among COVID-19 patients, hypercoagulability was much more pronounced, with significantly higher maximum clot firmness (FIBTEM: 38.4 ± 10.1 mm vs. 29.6 ± 10.8 mm; P = 0.012; EXTEM: 70.4 ± 10.4 mm vs. 60.6 ± 14.8 mm; P = 0.022). Additionally, fibrinogen levels were significantly higher among COVID-19 patients (757 ± 135 mg/dl vs. 498 ± 132 mg/dl, P < 0.0001). Furthermore, thromboelastometry showed fibrinolysis shutdown among COVID-19 patients with significantly lower maximum of lysis than among sepsis patients (EXTEM: 0.6 ± 1.2 % vs. 3.3 ± 3.7 %; P = 0.013). Seven of 20 COVID-19 patients experienced thromboembolic events, whereas no patient in the sepsis group experienced such events. Conclusions ROTEM analysis showed significantly different pathological findings characterized by hypercoagulability and fibrinolysis shutdown among COVID-19 patients with a severe disease course compared to patients with severe sepsis. These abnormalities seem to be associated with thromboembolic events.

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The appropriateness of blood transfusion following primary total hip replacement

Annals of The Royal College of Surgeons of England ◽

10.1308/003588412x13171221501384 ◽

2012 ◽

Vol 94 (3) ◽

pp. 201-203 ◽

Cited By ~ 10

Author(s):

PJ Joy ◽

SJ Bennet

Keyword(s):

Total Hip Replacement ◽

Hip Replacement ◽

Orthopaedic Surgery ◽

Significant Proportion ◽

Study Data ◽

Total Hip ◽

Audit Data ◽

Prescribing Practice ◽

Service Data

INTRODUCTION A significant proportion of all red cell transfusions are given to patients undergoing elective orthopaedic surgery. Concern over transfusion safety and cost, coupled with evidence showing that restrictive transfusion policies benefit patients, prompted us to audit our blood prescribing practice at Gloucestershire Hospitals NHS Foundation Trust in order to assess the appropriateness of every transfusion episode following elective primary total hip replacement. METHODS All patients undergoing a primary total hip replacement in our department over a six-month period were included in the study. Data were collected retrospectively using case note examination and transfusion service data. Standards were dictated by the British Orthopaedic Association guidelines on blood conservation in elective orthopaedic surgery. RESULTS Twenty-seven per cent of patients (39/143) were transfused. Forty-six per cent of these (18/39) were transfused inappropriately and twenty-three per cent (9/39) appropriately. Thirteen per cent (5/39) had a valid indication for transfusion but were over-transfused and in eighteen per cent (7/39) the quality of documentation did not allow an assessment to be made. Fifty-two per cent of patients who had surgical drains (29/56) were transfused. Reaudit following staff education and amendments to the local transfusion policy did not demonstrate a reduction in transfusion rates. CONCLUSIONS This audit showed that significant potential exists for reducing transfusion rates based on optimising prescribing practice alone. It also demonstrated that changing local practice based on audit data can be challenging.

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P026 Efficacy and safety of Etanercept for the treatment of Juvenile Idiopathic Arthritis

Rheumatology ◽

10.1093/rheumatology/keab722.018 ◽

2021 ◽

Vol 60 (Supplement_5) ◽

Author(s):

Kamelia Okka ◽

M Belghazi ◽

A Dehimi ◽

Z Benarab ◽

S Bouabdallah ◽

...

Keyword(s):

Juvenile Idiopathic Arthritis ◽

Retrospective Study ◽

Psoriatic Arthritis ◽

Single Case ◽

Efficacy And Safety ◽

Enthesitis Related Arthritis ◽

Epidemiological Features ◽

Fda Approval ◽

Pediatric Center

Abstract Background Etanercept (ETN) is the first anti-TNF to have obtained FDA approval in 1999 for juvenile idiopathic arthritis (JIA) refractory to methotrexate. Currently, the indications of ETN cover the polyarticular JIA, the extended oligoarticular, and enthesitis-related arthritis. To assess the efficacy of Etanercept, as well as its tolerance in JIA. Material and methods We carried out a retrospective study of children with JIA according to the criteria of the ILAR classification and treated with Etanercept at the pediatric center of the CHU de Sétif since 2015. Nineteen children were included and considered to 3 months, 6 months, 1 year, 2 years, 3 years, 4 years, 5 years on the criteria epidemiology, the efficiency criteria (joint Scores, uveitis, ESR, CHAQ), and the occurrence possible side effects. We defined the improvement of 30% (ACR 30), 50% (ACR 50), 70% (ACR 70), 90% (ACR 90), and 100% (ACR 100) as the improvement of minus 3 criteria out of 6 of 30%, 50%, 70%, 90%, 100%; patients must not have a worsening of > 30% of any of the 6 criteria. Results The epidemiological features were the following: 12 girls and 7 boys, 10 present polyarticular form, 6 present oligoarticular form, 2 cases with psoriatic arthritis, and a single case of enthesitis-related arthritis. ACR 30 is obtained in 75%, 84%, 88% of cases at 3 months, 6 months, and 1 year, respectively. The strongest responses were obtained in polyarticular, oligoarticular, and enthesitis-related arthritis. Complete remission was maintained in the majority of patients for varied durations depending on the follow-up. Furthermore, no clinical or biological adverse effects were noted. Conclusion The Etanercept has been dramatically effective in children with juvenile idiopathic arthritis, especially in the polyarticular subtype, oligoarticular, and enthesitis-related arthritis. Its overall tolerance is very good.

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Coronavirus Disease (COVID-19): 10 Questions and Discussion Points for Diabetes and COVID-19

Frontiers in Emergency Medicine ◽

10.18502/fem.v5i2.5625 ◽

2021 ◽

Author(s):

Mahbube Ebrahimpur ◽

Moloud Payab ◽

Mahnaz Pejman Sani ◽

Bagher Larijani

Keyword(s):

High Risk ◽

General Population ◽

Severe Disease ◽

Underlying Disease ◽

Serious Illness ◽

Risk Categories

The COVID-19 pandemic is now an international concern. COVID-19 is first reported in Wuhan, China on 31 December 2019 and affects different people in different ways. Evidence suggests that people with underlying disease are at higher risk for more severe disease. People with diabetes are not only more likely than the general population to have COVID-19 but also they are among those high-risk categories that can have serious illness if they get the virus.

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Restrictive cardiomyopathy

ESC CardioMed ◽

10.1093/med/9780198784906.003.0358 ◽

2018 ◽

pp. 1485-1490

Author(s):

Jens Mogensen

Keyword(s):

Randomized Clinical Trials ◽

Systolic Function ◽

Severe Disease ◽

Significant Proportion ◽

Gene Mutations ◽

Restrictive Cardiomyopathy ◽

Multiple Organs ◽

Normal Wall ◽

Sarcomeric Gene ◽

The Individual

Restrictive cardiomyopathy (RCM) is an uncommon myocardial disease, characterized by impaired filling of the ventricles in the presence of normal wall thickness and systolic function. Most patients have both left- and right-sided heart failure which are often accompanied by severe symptoms. Enlargement of both atria is usually present and thromboembolic events are common. The prognosis is generally poor and a significant proportion of patients require a cardiac transplantation. RCM may appear in the context of diseases involving multiple organs or it may be confined to the heart. In addition, the condition appears in both familial and non-familial forms. The majority of familial forms are caused by sarcomeric gene mutations, which are also frequently identified in hypertrophic, dilated, and non-compaction cardiomyopathy. This implies that familial evaluation should be considered whenever an individual is diagnosed with RCM. In non-familial RCM, the most frequent aetiology is amyloidosis due to haematological diseases or senile forms. There are no randomized clinical trials of therapy in patients with symptomatic RCM. Diuretics remain the cornerstone of treatment and require careful titration since RCM patients are very sensitive to hypovolaemia. Since the condition is very rare with a severe disease expression and poor prognosis, it is recommended that RCM patients should be followed in expert centres in order to optimize management of the individual patient.

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Metacognitive Interpersonal Therapy for Borderline Personality Disorder: A Single Case Study

Clinical Case Studies ◽

10.1177/1534650120960234 ◽

2020 ◽

Vol 20 (1) ◽

pp. 56-74

Author(s):

Giampaolo Salvatore ◽

Lorena Bianchi ◽

Luisa Buonocore ◽

Nadia Disturco ◽

Angus Macbeth ◽

...

Keyword(s):

Borderline Personality Disorder ◽

Personality Disorder ◽

Emotion Dysregulation ◽

Single Case ◽

Sense Of Self ◽

Severe Disease ◽

Borderline Personality ◽

Interpersonal Therapy ◽

Metacognitive Interpersonal Therapy

Borderline personality disorder (BPD) is a severe disease, characterized by severe instabilities in identity, affect and relationships. Clinical improvement of BPD can be facilitated by psychotherapy aimed at tackling multiple specific cross-modality impairments and their patterns of interaction: impaired sense of self, maladaptive interpersonal schemas, impaired metacognition, emotion dysregulation and impulsivity. Herein, we describe the steps in the treatment of a young woman meeting the criteria for with BPD with paranoid traits, successfully treated with Metacognitive Interpersonal Therapy, a treatment based on comprehensive assessment of domains. In the initial phase, treatment focused on promoting emotion regulation, integrating opposing patient representations of the therapist, enhancing metacognition, and increasing focus on the maladaptive schema that elicited dysregulated behaviors. Later in therapy, treatment focused on supporting the patient to realize her ideas about self and others were schema-driven; and improving metacognitive capacity to understand others’ minds. General implications for psychotherapy of BPD are discussed.

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