Search

OBJECTIVE: Familial Mediterranean fever (FMF) is a monogenic inherited periodic fever syndrome presenting with episodes of self-limiting fever and inflammation of serosal membranes. Besides the findings in the diagnostic criteria, musculoskeletal findings can also be seen in FMF patients attacks. In this study, we aim to reveal the frequency and genotype association of musculoskeletal manifestations in children with FMF. METHODS: The patients diagnosed with FMF between January 1, 2017 and June 1, 2019, and followed for at least six months in our pediatric rheumatology clinic were included in this study. Musculoskeletal manifestations of patients were enrolled. The patients were grouped according to the 'Mediterranean Fever' (MEFV) gene variants. Musculoskeletal manifestations of the patients were compared between the groups. RESULTS: The study group included 634 children with FMF (336 female and 298 male, F/M: 1.13/1). The clinical manifestations of patients in the attack period were as follows: 99% of the patients had a fever, 87.3% had abdominal pain, 20.7% had chest pain, 11.3% had vomiting, 10.7% had erysipelas like erythema, and 9.3% had a headache. The musculoskeletal symptoms were accompanied by 58.6% (n=372) of the patients during the attack period. The most common musculoskeletal manifestation was found as arthralgia (32.6%, n=206). Also, the other musculoskeletal manifestations were as follows during attacks: arthritis in 23.7% (n=150), myalgia in 20.5% (n=130), exertional leg pain in 6.5% (n=41), and protracted febrile myalgia in 1% (n=7) of the patients. It was observed that the musculoskeletal manifestations were significantly higher in patients with homozygous M694V variants in exon-10 (p=0.017). The musculoskeletal manifestations were more common in the attack periods of patients carrying the M694V variant in at least one allele (p=0.019). CONCLUSION: We found that the musculoskeletal manifestations were accompanied in more than half of patients with FMF. M694V variant was found as a risk factor for emerging musculoskeletal manifestations.

OBJECTIVE: Turkey is one of the latest countries that COVID-19 disease was reported, with the first case on March 11, 2020, and since then, Istanbul became the epicenter of the pandemic in Turkey. Here, we reveal sequences of the virus isolated from three different patients with various clinical presentations. METHODS: Nasopharyngeal swab specimens of the patients were tested positive for the COVID-19 by qRT-PCR. Viral RNA extraction was performed from the same swab samples. Amplicon based libraries were prepared and sequenced using the Illumina NextSeq platform. Raw sequencing data were processed for variant calling and generating near-complete genome sequences. All three genomes were evaluated and compared with other worldwide isolates. RESULTS: The patients showed various clinics (an asymptomatic patient, patient with mild disease, and with severe pulmonary infiltration). Amplicon-based next-generation sequencing approach successfully applied to generate near-complete genomes with an average depth of 2.616. All three viral genomes carried the D614G variant (G clade according to GISAID classification) with implications for the origin of a spread first through China to Europe then to Istanbul. CONCLUSION: Here, we report the viral genomes circulating in Istanbul for the first time. Further sequencing of the virus isolates may enable us to understand variations in disease presentation and association with viral factors if there is any. In addition, the sequencing of more viral genomes will delineate the spread of disease and will guide and ease the necessary measures taken to stem the spread of the novel coronavirus.