An international survey of current management practices for polymyalgia rheumatica by general practitioners and rheumatologists.

OBJECTIVES: To explore current management practices for PMR by general practitioners (GPs) and rheumatologists including implications for clinical trial recruitment. METHODS: An English language questionnaire was constructed by a working group of rheumatologists and GPs from six countries. The questionnaire focused on: 1: Respondent characteristics; 2: Referral practices; 3: Treatment with glucocorticoids; 4: Diagnostics; 5: Comorbidities; and 6: Barriers to research. The questionnaire was distributed to rheumatologists and GPs worldwide via members of the International PMR/Giant Cell Arteritis Study Group. RESULTS: In total, 394 GPs and 937 rheumatologists responded to the survey. GPs referred a median of 25% of their suspected PMR patients for diagnosis and 50% of these were returned to their GP for management. In general, 39% of rheumatologists evaluated patients with suspected PMR >2 weeks after referral, and a median of 50% of patients had started prednisolone before rheumatologist evaluation. Direct comparison of initial treatment showed that the percentage prescribing >25 mg prednisolone daily for patients was 30% for GPs and 12% for rheumatologists. Diagnostic imaging was rarely used. More than half (56%) of rheumatologists experienced difficulties recruiting people with PMR to clinical trials. CONCLUSION: This large international survey indicates that a large proportion of people with PMR are not referred for diagnosis, and that the proportion of treatment-naive patients declined with increasing time from referral to assessment. Strategies are needed to change referral and management of people with PMR, to improve clinical practice and facilitate recruitment to clinical trials.

Gout and AA-Amyloidosis: A Case-Based Review.

BACKGROUND: AA-amyloidosis complicates many chronic infections and inflammatory diseases, including rheumatoid arthritis, ankylosing spondylitis, and psoriatic arthritis, but its relationship to gout is extremely rare. As it is unknown definitely what the pathophysiological connections between gout and amyloidosis are, treatment issues of the diseases are open for discussion. AIM: To establish a link between gout and AA-amyloidosis, and to improve the quality of treatment in patients suffering from gout and AA-amyloidosis. METHODS: We reviewed the English-language literature sources, searching not only for rare cases of the combination of gout and AA amyloidosis, but also detailed descriptions of the medical treatments for the two pathologies. RESULTS: By July 2020, we had identified 14 cases describing AA amyloidosis in patients with gout. Most of those patients had been suffering tophaceous gout for at least 10 years, and were prescribed various methods of treatment; however, not all patients took colchicine regularly. In some cases, therapy with allopurinol and colchicine was effective against attacks of gouty arthritis, although amyloidogenic inflammation was not controlled sufficiently. However, there were no cases that described in detail the successful treatment of both diseases. Besides those 14 patients described in literature, we examined one more patient with amyloidosis that is secondary to gout, in whom the protein of amyloid A (AA) had affected the kidneys, intestines, and adrenal glands. The patient has been successfully treated with the combination of canakinumab, prednisone, colchicine and allopurinol. CONCLUSION: Clinicians should be aware that patients may have atypical combinations of diseases like gout and amyloidosis. The obtained results help to explain some pathogenic processes associated with AA-amyloidosis. Further research is necessary to confirm the effectiveness of different treatment options such as lifestyle biologic agents or other medicines with anti-inflammatory properties.

Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users.

INTRODUCTION: Congenital sensorineural hearing loss is a heterogeneous disorder; its etiological profile varies between populations. Pathogenic variants of GJB2 gene are the major cause of non-syndromic hearing loss. Congenital cytomegalovirus infection (cCMV) is the most important prenatal etiological factor causing hearing loss and other disorders. Perinatal events, syndromes, postnatal infections or traumas are less common. Causes of the remaining one third of hearing loss cases are unknown. OBJECTIVES: To determine the etiological profile of hearing loss in pediatric cochlear implant users in Lithuanian population. METHODS: The data of 122 children (70 male/52 female; aged 7.6 ± 3.3 years) cochlear implant users were analysed. Medical records of all children recruited in Santaros Clinics (Vilnius, Lithuania) were analysed to identify prenatal, perinatal, or postnatal risk factors based on the adapted list proposed by the Joint Committee of Infant Hearing. Genetic counselling and testing according to the scheme were performed to 101 children. DNA of 117 children was extracted from the DBS on Guthrie cards and CMV DNA detected using real time PCR. RESULTS: Non-syndromic hearing loss was diagnosed in 65 cases (53.3%), 58 of which were GJB2 gene-associated; syndromic hearing loss was diagnosed to 8 children (6.6%). Perinatal (prematurity, low birth weight, hypoxia, hyperbilirubinemia, sepsis, ototoxicity, and meningitis) and postnatal (meningitis) risk factors were associated with hearing loss in 16 (13.1%) and 4 (3.3%) study participants respectively. CMV DNA was detected in 12 samples (9.8%). The cause of hearing loss remained unknown only for 17 (13.9%) children. CONCLUSIONS: The major cause of HL in the current study was GJB2 gene alterations. Only 14% of the cohort had congenital hearing loss of unknown origin.