2019 ACR/EULAR classification criteria and therapy in predicting organ damage accrual in patients with childhood-onset systemic lupus erythematosus: A retrospective study over the last 29 years.

OBJECTIVE: We explored damage occurrence in patients with childhood-onset SLE (cSLE) and aimed to predict the risk of organ damage occurrence in time. METHODS: The retrospective study included patients treated for cSLE at the Centre of Reference for Pediatric and Adolescent Rheumatology of the Republic Croatia over a 29-year period. RESULTS: The disease development of 97 patients (77 females) with cSLE was examined. The median (Q1, Q3) follow-up time was 6.5 (2.3, 12.0) years. SDI was determined at 5 time points (6, 12, 24, 36 months, and last follow-up). Thirty-eight patients (48%) had organ damage at the last follow-up. Prepubertal group of patients showed higher SLEDAI scores at the disease onset, while post-pubertal group had significantly lower proportion of patients with relapses. We estimated the time from the first symptom to the moment of damage and our findings suggest that it is unlikely that organ damage will occur in 50% of patients in the first 6 years since the diagnosis. The number of 2019 ACR/EULAR classification criteria at the time of diagnosis associated with SDI determined after 1 year of the follow-up period. The patients who received higher doses of glucocorticoids accumulated damage faster and mycophenolate mofetil was found to be a more frequent therapy in patients with SDI ≥3. CONCLUSION: Knowing that damage will most likely happen after the first 6 years after diagnosis in 50% of patients enables physicians to better predict damage occurrence. High number of 2019 ACR/EULAR criteria and treatment with glucocorticoids in childhood-onset SLE are associated with damage accrual and these findings could enable us to detect patients which should be closely monitored for higher risk of damage development.

Identifying barriers for nature-based solutions in flood risk management: An interdisciplinary overview using expert community approach.

The major event that hit Europe in summer 2021 reminds society that floods are recurrent and among the costliest and deadliest natural hazards. The long-term flood risk management (FRM) efforts preferring sole technical measures to prevent and mitigate floods have shown to be not sufficiently effective and sensitive to the environment. Nature-Based Solutions (NBS) mark a recent paradigm shift of FRM towards solutions that use nature-derived features, processes and management options to improve water retention and mitigate floods. Yet, the empirical evidence on the effects of NBS across various settings remains fragmented and their implementation faces a series of institutional barriers. In this paper, we adopt a community expert perspective drawing upon LAND4FLOOD Natural flood retention on private land network (https://www.land4flood.eu) in order to identify a set of barriers and their cascading and compound interactions relevant to individual NBS. The experts identified a comprehensive set of 17 barriers affecting the implementation of 12 groups of NBS in both urban and rural settings in five European regional environmental domains (i.e., Boreal, Atlantic, Continental, Alpine-Carpathian, and Mediterranean). Based on the results, we define avenues for further research, connecting hydrology and soil science, on the one hand, and land use planning, social geography and economics, on the other. Our suggestions ultimately call for a transdisciplinary turn in the research of NBS in FRM.

Quality of life in children suffering from juvenile idiopathic arthritis-associated uveitis.

Uveitis (JIA-U), the most common extra-articular manifestation in juvenile idiopathic arthritis (JIA), may cause severe impairment of vision in children and affect their quality of life (QoL). Considering the lack of uveitis-related QoL assessment questionnaire, and multidimensional nature of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR), commonly used for monitoring and assessing the health status of children with JIA, we performed a cross-sectional study to investigate the potential of the JAMAR in estimation of QoL in children suffering from JIA-U. The study included 42 children with JIA, 21 of whom had JIA-U. Both children and their parents completed the JAMAR. We compared two groups of children (JIA-U and JIA without uveitis) and their parents against five extracted questionnaires items (QoL, functional ability, pain level, disease activity estimation, and current emotional state of the child) using the independent-samples t test to verify the differences and the Pearson correlation coefficient to measure the strength of a linear association between variables. No significant statistical difference in any of the examined variables was found between the two groups of children. In the groups of parents, current emotional state of children with JIA-U was assessed to be significantly worse (t = 2.05, p < 0.05) and the overall level of functioning significantly lower (t = 2.03, p < 0.05) than children without uveitis. Our results suggest the need for adding the uveitis-specific questionnaires items to JAMAR to improve its sensitivity and specificity in the assessment of QoL in children suffering from JIA-U, as well as designing a second assessment tool such as uveitis-specific questionnaires.

[RADIOLOGICAL FEATURES IN PEDIATRIC IMAGING].

Juvenile idiopathic arthritis (JIA) is an autoimmune disease usually occurring in children before the age of 16. As one of the most prevalent rheumatic diseases in the pediatric population, with an estimated prevalence of 2 to 20 and an incidence of 16 to 150 per 100,000 children, it is defined as an inflammation of one or more joints, with a duration of 6 weeks minimum. JIA is primarily diagnosed clinically, confirmed by laboratory and radiological findings, with the goal of early detection and assessment of the spread and progress of the disease as well as the response to medication. The current International League of Associations for Rheumatology (ILAR) classification defines eight types of arthritis.

[Management of mucopolysaccharidosis type VI in adults]. / SMJERNICE ZA LIJECENJE MUKOPOLISAHARIDOZE (MPS) VI U ODRASLIH BOLESNIKA.

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is a progressive multisystemic lysosomal storage disease. Physical symptoms generally include growth retardation, and bone dysplasia. Enzyme replacement therapy is the treatment of choice and is done with recombinant version of enzyme N-acetylgalactosamine 4-sulfatase (galsulfase) which is administered intravenously. The enzyme replacement therapy should be applied once a week as a life-long treatment. Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb continues with the treatment of MPS VI patients after they turn 18 years of life and are not treated any more by the pediatricians. The aim of this document is to provide the guidelines for diagnosis and management of adult patients with MPS VI which consists not only of regular galsulfase adiministration, but also of regular follow up and treatment of numerous comorbidities. These guidelines were produced by experts from the Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb which is the Referral center for rare and metabolic diseases of the Ministry of Health, Republic of Croatia. The guidelines are result of collaboration with pediatricians, radiologists and biochemists without whose experience and advices appropriate treatment of these patients would not be possible. The guidelines were endorsed by the Croatian society for rare diseases, Croatian Medical Association.

[POMPE DISEASE - GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENTS]. / POMPEOVA BOLEST - SMJERNICE ZA DIJAGNOZU I LIJECENJE ODRASLIH BOLESNIKA.

These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different experts. These guidelines were produced by the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is a Referral expert center for rare and metabolic diseases of the Ministry of Health of the Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association.These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Pompe disease.

Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance.

34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed. Elevated bone alkaline phosphatase as well as other bone turnover markers (osteocalcin, procollagen, telopeptide) indicated further skeletal evaluation. Symmetrical enhanced uptake on technetium methylene diphosphonate [99mTc]MPD bone scintigraphy at diaphyses of longitudinal bones and scull matched cortical thickening of long bones and sclerosis of the scull seen at radiograms. Those findings pointed to Camurati-Engelmann disease misdiagnosed for the long time. This rare genetic autosomal dominant disorder was retrospectively diagnosed in asymptomatic father too on the basis of bone scans done long time ago. Old family member scans confirmed heredity pattern of the disease.

[Application of radiological imaging in rheumatoid arthritis]. / Primjena radioloskih metoda u reumatoidnom artritisu.

Advancement in technology and development in the field of radiological equipment provides us with a variety of diagnostic possibilities. Once diagnosed, further grading of pathologic condition is needed in order to monitor the changes of affected joints, either progression due to the course of the disease or remission due to the applied therapy. Different methods used in imaging of musculoskeletal system are discussed, including use of standard radiography, computed tomography, magnetic resonance, ultrasound and Color Doppler imaging. Bone mineral density results add much additional data so densitometry scanning is performed routinely.

EULAR recommendations for the use of imaging of the joints in the clinical management of rheumatoid arthritis.

OBJECTIVE: To develop evidence-based recommendations on the use of imaging of the joints in the clinical management of rheumatoid arthritis (RA). METHODS: The task force comprised an expert group of rheumatologists, radiologists, methodologists and experienced rheumatology practitioners from 13 countries. Thirteen key questions on the role of imaging in RA were generated using a process of discussion and consensus. Imaging modalities included were conventional radiography, ultrasound, MRI, CT, dual-emission x-ray absorptiometry, digital x-ray radiogrammetry, scintigraphy and positron emission tomography. Research evidence was searched systematically for each question using MEDLINE, EMBASE and Cochrane CENTRAL. The experts used the evidence obtained from the relevant studies to develop a set of 10 recommendations. The strength of recommendation was assessed using a visual analogue scale. RESULTS: A total of 6888 references was identified from the search process, from which 199 studies were included in the systematic review. Ten recommendations were produced encompassing the role of imaging in making a diagnosis of RA, detecting inflammation and damage, predicting outcome and response to treatment, monitoring disease activity, progression and remission. The strength of recommendation for each proposition varied according to both the research evidence and expert opinion. CONCLUSIONS: Ten key recommendations for the role of imaging in the management of RA were developed using research-based evidence and expert opinion.

Familial antiphospholipid syndrome presenting as bivessel arterial occlusion in a 17-year-old girl.

This article presents a case of a 17-year-old girl with primary antiphospholipid syndrome developing subacute signs of hand and leg ischaemia caused by radiologically verified radial and popliteal artery occlusion. She is successfully treated with a thrombolytic agent (alteplase) and recovers completely. Her laboratory results came positive for all three subtypes of antiphospholipid antibodies. This kind of antiphospholipid syndrome presentation is a very rare entity in itself. Shortly afterwards her mother is diagnosed with primary antiphospholipid syndrome as well. A familial form of antiphospholipid syndrome is suspected. Combination of a familial antiphospholipid syndrome presenting as bivessel arterial thrombosis is a unique case, to the best of our knowledge, never described in the literature before.

[The proposal of Croatian Society for Rheumatology for anti-TNF-alpha therapy in adult patients with spondyloarthritides, 2013]. / Prijedlog hrvatskog reumatoloskog drustva HLZ-a za primjenu inhibitora TNF-alpha u odraslih bolesnika sa spondiloartritisima, 2013.

Croatian Society for Rheumatology of Croatian Medical Association updated the proposal for the application of TNF-alpha inhibitors in adult patients with spondyloartritides (SpA) in accordance with the new classification of SpA and european recommendations for the treatment of SpA with biologic agents. In this way a standardized method of diagnosis, targeted treatment, monitoring and evaluating outcomes are proposed.

A patient with prostate cancer and multiple myeloma-diagnostics and possible association of both diseases.

In this report, we describe a case of a patient with prostate cancer and multiple myeloma as the second metachronous malignant disease. To our knowledge, synchronous occurrence of bone marrow prostate cancer metastases and multiple myeloma-as it was found in the clinical disease course of our patient-has not been documented in the literature. Among other diagnostic procedures, cytomorphology and immunocytochemistry analyses contribute to detection of metastases of epithelial cells and synchronous plasma cell proliferation in bone marrow. Occurrence of multiple myeloma and prostate cancer in our patient adds to other similar reports and points to possible association between both diseases and also to other factors involved in the development of a second malignant disease. Further studies are needed to confirm and clarify this association, because prostate cancer is a relatively common malignant disease.

[Ultrasound guided breast biopsy--a retrospective study and literature review]. / Biopsija dojke pod kontrolom ultrazvuka--retrospektivna studija i pregled literature.

AIM: The purpose of this study is to determine the accuracy and clinical usefulness of ultrasound guided core biopsy for diagnosing suspicious radiologically detected breast lesions. PATIENTS AND METHODS: We retrospectively evaluated the results of percutaneous core biopsy with 14-gauge needles performed over a period of 14 months on 229 suspicious lesions detectable on mammography and/or ultrasound exam (BI-RADS 4 or 5). The imaging-histological concordance was ascertained for each lesion. In cases of discordance, repeat biopsy or surgical excision was performed. Six-month ultrasound control was recommended in cases of benign lesions. For borderline and malignant lesions a surgical excision was done. Concordance between biopsy results and subsequent examinations (surgical excision or follow-up) was also evaluated. RESULTS: Histological analysis of core biopsy samples showed 143 (62.4%) benign lesions, 21 (9.2%) borderline lesions and 65 (28.4%) malignant lesions. Follow-up, repeated biopsy, or surgical excision showed four false negative cases. Accuracy of ultrasound guided core biopsy was 98.3%. CONCLUSION: Ultrasound guided core biopsy is a safe and reliable method for diagnosing suspicious breast lesions without any significant complications as was reported in previous studies.

[Radiologic imaging of crystalline arthritides]. / Radiolosko oslikavanje u kristalinicnim artritisima.

Gout is a group of diseases characterized by arthritis and is a result of urate metabolism disturbance with the deposition of monosodium urate crystals in the joint and soft tissues. Clinical manifestations include acute and chronic arthritis, tophaceous deposits, interstitial renal disease and uric acid nephrolithiasis. The diagnosis is based on the identification of uric acid crystals in joint or body fluids.

[Treatment of langerhans cell histiocytosis in children]. / Lijecenje histiocitoze langerhansovih stanica u djece.

Langerhans' cell histiocytosis (LCH) is a disease characterised by pathologic accumulation and proliferation of histiocytes, cells from the monocyte-macrophage system, in various tissues and organs. In this retrospective study we analyzed patients charts treated in the Department of pediatric hematology and oncology at the University Hospital Zagreb with the diagnosis of LCH. Twenty-two children were diagnosed between January 1st 1996 and December 31st 2010, and all were treated with chemotherapy. 19 patients survived (86%) and the remaining 3 (14%), all under the age of 2 with multisystem disease, died. At the time of diagnosis 12 children (55%) presented with single-system disease, the most common were bone lesions in 8 children (36%). All children were treated according to protocols LCH-I and LCH -III. Eight children had mild complications of treatment and the disease itself. Diabetes insipidus remains in 4 children.

[Imaging in diagnostics of spondyloarthritis]. / Slikovne metode u prikazu spondiloartritisa.

This article describes radiological possibilities in musculoskeletal imaging of patients with suspected spondyloarthritis, with point on new imaging methods. We show which method is the best to use in a certain scenario, and when to do US and when use CT, MR or tomosyntesis. We have to be mindful about the radiation doses and X-ray usage, taking into account the age of the patient and what benefits a certain method would bring.

[The role of magnetic resonance imaging in seronegative spondyloarthritides]. / Uloga magnetske rezonancije u seronegativnim spondiloartritisima.

Seronegative spondyloarthritides (SpA) is a group of inflammatory rheumatic diseases characterized by inflammation of the sacroiliac joints and/or the spine, enthesitis and peripheral arthritis. MRI is the imaging method of choice for visualization of the sacroiliac joint and spine according to the new ASAS classification criteria for axial SpA. It can visualize both active inflammation and structural damage and is not associated with radiation exposure. MRI findings characteristic for active disease include bone marrow edema and contrast enhancement of the bone marrow and the joint space, while chronic changes include bone erosions, sclerosis, periarticular fatty tissue accumulation, bone spurs and ankylosis. MRI has higher sensitivity comparing to other radiological modalities. MRI.is the most important diagnostic imaging method in early SpA. It is sensitive and reliable for objective monitoring of the disease process and it is essential in the management of patients with SpA.

Is axial magnetic resonance imaging useful in early juvenile spondyloarthritis-preliminary report.

INTRODUCTION/OBJECTIVES: Magnetic resonance imaging (MRI) is recommended for evaluation of changes in juvenile spondyloarthropathies (JSpA). To our knowledge, there is no previous prospective study analysing early changes on axial MRI. The objective is to investigate incidence of reparable changes on axial MRI in patients with established JSpA, lasting for less than 6 months. MATERIALS AND METHODS: The pilot study included 27 patients with confirmed diagnosis of JSpA examined within 2 years. Prior to imaging, basic demographic and laboratory data and HLA-B27 were collected. Patients filled out a visual analogue scale for pain and a childhood health assessment questionnaire. A paediatric rheumatologist and a paediatric physiatrist examined patients and measured indices of flexion, extension and sagittal flexibility. Contrast-enhanced axial MRI examination and cervical x-ray were performed. Three experienced paediatric radiologists independently reviewed x-ray and MRI images of all patients. RESULTS: There was no significant correlation between early changes detected on MRI and other parameters. The study revealed early changes of the cervical spine to be the most common finding. More patients had positive cervical MRI than positive sacroiliac joint (SIJ) MRI. Cervical x-ray and MRI were equally useful for diagnosis regardless of other parameters. CONCLUSION: Study showed new information on axial involvement, striking cervical spine as the most involved part. The biggest study limitation is the small number of patients. Establishing early JSpA diagnosis is of utmost importance, especially in the light of novel therapy introduced in every day practice. It seems that cervical spine involvement is more represented than previously described in literature, especially in comparison with SIJ. Key Points • Contrast-enhanced MRI is considered the gold standard for detection early changes in JSpA. • Standardization of diagnostic criteria and better classification of changes using the unique scoring system for children are necessary. • It seems that cervical spine involvement is more represented than previously described in the literature, especially in comparison with SIJ involvement.

Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene.

Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP). The disorder is caused by various mutations in the TNSALP gene localized on short arm of chromosome 1. Infantile hypophosphatasia is a severe form of the disease inherited as an autosomal recessive trait which presents before age of six months and often has fatal outcome. We report a patient with typical clinical course for infantile hypophosphatasia who was homozygous for the c.1402G>A mutation. The same mutation has been previously associated with a more severe perinatal form also in a Croatian family what indicates a possible common ancestral origin and phenotypic variability potential of c.1402G>A mutation of TNSALP gene.