Evaluation of the genetic parameters for 10 common and five new ESS core autosomal STR loci in seven major geographic regions and the largest metropolitan province of Turkey
ANNALS OF HUMAN BIOLOGY
Authors: Canturk, Kemal Murat; Gurkan, Cemal; Sevay, Huseyin; Emre, Ramazan
Abstract
Background: Situated at the crossroads of Asia, Middle East and Europe, Turkey has an ethnically diverse population of over 78 milllion people. Aim: To investigate the population genetics and potential differences in the autosomal short tandem repeat (STR) polymorphisms across all the major geographic regions and largest metropolitan province of Turkey within the context of the Near Eastern/European genetic landscape. Subjects and methods: Samples from a total of 5299 unrelated individuals were analysed at 10 common [D2S1338, D3S1358, D8S1179, D16S539, D18S51, D19S433, D21S11, FGA, TH01, vWA] and five new European Standard Set (ESS) core autosomal STR loci [D1S1656, D2S441, D10S1248, D12S391, D22S1045]. Results: Allele frequencies, statistical parameters of forensic interest and population differentiation tests were calculated for nine population datasets corresponding to the seven major geographic regions, the largest metropolitan province, and a combined dataset for the entire country. Cumulative results confirmed the presence of significant differences among these nine autosomal datasets themselves and with those from the nearby populations, therefore justifying the differential use of these separate datasets on a case-by-case basis in forensic investigations. Conclusion: This collection of autosomal STR population datasets comprises the largest and most comprehensive of its kind from Turkey so far.
Associations among falls, gait variability, and balance function in idiopathic normal pressure hydrocephalus
CLINICAL NEUROLOGY AND NEUROSURGERY
Authors: Nikaido, Yasutaka; Urakami, Hideyuki; Akisue, Toshihiro; Okada, Yohei; Katsuta, Naoya; Kawami, Yuki; Ikeji, Takuya; Kuroda, Kenji; Hinoshita, Tetsuya; Ohno, Hiroshi; Kajimoto, Yoshinaga; Saura, Ryuichi
Abstract
Objectives: The factors influencing falls in idiopathic normal pressure hydrocephalus (iNPH) remain unclear, although iNPH-associated gait and balance disturbances can lead to an increased risk of falls. This study aimed to investigate the associations among fall status, gait variability, balance function in iNPH, and to identify fall-related factors in iNPH. Patients and methods: Sixty-three patients with iNPH with a positive cerebrospinal fluid tap test result according to the iNPH diagnosis criteria participated in this prospective cross-sectional study. Patients were assessed using the 10-meter walk test (10MWT), the Functional Gait Assessment (FGA), the Berg Balance Scale (BBS), and the isometric quadriceps strength (QS). We also investigated each patient's history of falls in the past 6 months. Gait variability was measured using a triaxial accelerometer attached to the patient's torso at the L3 vertebra level during the 10MWT. Results: Fall status correlated significantly with gait variability (measured as the coefficient of variation; CV) in step time and movement trajectory amplitude (Le., center of mass movement) in the medial/lateral (ML) and vertical (VT) directions, with balance function as assessed by FGA and BBS scores. In contrast, QS was not correlated with fall status. The independent variables associated with the risk of falling were step time CV, FGA score, and age. Conclusion: The factors associated with the risk of falling in iNPH were aging and gait-balance instability, particularly temporal gait variability and dynamic balance dysfunction. Our results may enable physicians to identify the patients with iNPH who are at risk of falling and implement suitable prevention strategies.