2 research outputs found

    The prevalence and topographic distribution of penile calcification in a large cohort: a retrospective cross-sectional study

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    The prevalence of penile calcification in the population remains uncertain. This retrospective multicenter study aimed to determine the prevalence and characteristics of penile calcification in a large cohort of male patients undergoing non-contrast pelvic tomography. A total of 14 545 scans obtained from 19 participating centers between 2016 and 2022 were retrospectively analyzed within a 3-months period. Eligible scans (n = 12 709) were included in the analysis. Patient age, penile imaging status, presence of calcified plaque, and plaque measurements were recorded. Statistical analysis was performed to assess the relationships between calcified plaque, patient age, plaque characteristics, and plaque location. Among the analyzed scans, 767 (6.04%) patients were found to have at least one calcified plaque. Patients with calcified plaque had a significantly higher median age (64 years (IQR 56–72)) compared to those with normal penile evaluation (49 years (IQR 36-60) (p < 0.001). Of the patients with calcified plaque, 46.4% had only one plaque, while 53.6% had multiple plaques. There was a positive correlation between age and the number of plaques (r = 0.31, p < 0.001). The average dimensions of the calcified plaques were as follows: width: 3.9 ± 5 mm, length: 5.3 ± 5.2 mm, height: 3.5 ± 3.2 mm, with an average plaque area of 29 ± 165 mm² and mean plaque volume of 269 ± 3187 mm³. Plaques were predominantly located in the proximal and mid-penile regions (44.1% and 40.5%, respectively), with 77.7% located on the dorsal side of the penis. The hardness level of plaques, assessed by Hounsfield units, median of 362 (IQR 250–487) (range: 100–1400). Patients with multiple plaques had significantly higher Hounsfield unit values compared to those with a single plaque (p = 0.003). Our study revealed that patients with calcified plaques are older and have multiple plaques predominantly located on the dorsal and proximal side of the penis

    Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

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    Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease
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