The mystery of morphometric measurements of the coxal bone

Coxal bone, which is included in the structure of the pelvic skeleton, is in close relationship with the pelvic organs and great vessels. The aim of this study is to show the harmony between morphometric measurements using the correlation technique, based on the idea that the proportional harmony in different parts of our body will also be in the coxal bone. In the study, 95 dry coxal bone belonging to the Turkish population were examined. In dry bones of adults, the distance between anterior superior iliac spine and posterior superior iliac spine (A), distance between anterior inferior iliac spine and posterior inferior iliac spine (B), distance between anterior superior iliac spine and anterior inferior iliac spine (C), distance between posterior superior iliac spine and posterior inferior iliac spine (D), symphysial surface length (E), symphysial surface width (F), ischial tuberosity width (G), ischion-pubis arm thickness (H), coxal bone length (I), distance between the symphysial surface and the most protruding part of the ischial tuberosity (J) were measured with caliper. There was no statistical difference in the comparison of different measurements made on the right and left coxal bone in our study. In correlation studies, between (B) and (A) (r: 0.566), between (I) and (A) (r: 0.595), between (J) and (A) (r: 0.600), between (E) and (J) (r: 0.563) measurements showed a positive correlation relationship. In this study, excellent agreement was found in different morphometric measurements in coxal bone. [Med-Science 2023; 12(3.000): 724-9

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

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