Geometric and Mechanical Characterization of Human Carpal Bones – a Preliminary Study

Human hand injuries account for a significant number of accidents of young adults (mostly sports injuries) and elderly people. The most vulnerable part of the hand is the wrist, a construct consisting of numerous bones and ligaments. The hand is a complex structure, the mechanical behavior is hard to describe, and also it is sometimes hard to correctly diagnose the injuries. The goal of the present research is to create a quickly and inexpensive measurement method to characterize the geometrical and mechanical properties of carpal bones.The method presented is suitable to properly characterize the intact and damaged geometries of different carpal bones (capitate scaphoid, trapezium, pisiform). 3D models of intact and failed bones are determined by a 3D scanner, mechanical properties are determined with high-speed compression load (700 mm/min), which represents the fracture by falling down. According to the test results, the 3D scanning technique provided valuable geometrical data for cross-section calculation (scan before the test) and for analysis of the failure mode of the bones (scan after the test). The modulus of elasticity data for finite element simulation can be determined by the high-speed compression tests

Screening for Mutations of 21-Hydroxylase Gene in Hungarian Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To determine the mutational spectrum in the Hungarian CAH population, the CYP21 active gene was analyzed using PCR. A total of 297 Hungarian patients with 21-hydroxylase deficiency are registered in the 2nd Department of Pediatrics, Budapest, Hungary, and their clinical status was evaluated. Blood samples for CYP21 genotype determination could be obtained from 167 patients (representing 306 unrelated chromosomes and 56.2% of the total group of patients). Eight of the most common mutations were screened [In2 (intron 2 splice mutation), I172N, Del (Del: apparents large gene conversion), Q318X, R356W, 1761Tins, ClusterE6, V281L] using allele-specific amplification. The most frequent mutation in the Hungarian CAH population was found to be In2. Our results have shown a good genotype/phenotype correlation in case of most mutations; the In2 mutation is associated mostly with the severe form of the disease, whereas I172N was expressed in a wide spectrum of phenotypes