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Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population.

We performed a family-based association study to test the hypothesis that genetic variation at the human orthologue of the mouse progressive ankylosis gene (ANKH) is involved in determining bone size (BS) and bone geometry (BG). The study population comprised 126 nuclear families with 574 adult Chuvashian individuals living in small villages in the Russian Federation. Quantitative bone traits were determined by analyzing plain hand radiographs. Familial correlations for all studied traits revealed a high degree of heritability in this ethnically homogeneous population. Three simple tandem repeat (STR) polymorphisms, one intragenic and two flanking markers, as well as six single nucleotide polymorphisms (SNPs) were tested. The SNPs were detected by re-sequencing experiments and covered ANKH exons with their flanking splice sites and the promoter region. We used three different transmission disequilibrium tests (TDTs) and obtained multiple significant association signals for all investigated bone traits. Alleles of several markers located at different positions of the ANKH locus, including the promoter, consistently revealed the association. The bone traits tested are closely related to bone fragility suggesting a role for ANKH in osteoporosis.

Adolescent↗

[Initial experiences with the Ilisarov method on the hand bones].

From 1 July 1991 to 1 July 1992, 23 patients were treated using an Ilisarov distraction apparatus. The apparatus was used for callus distraction in 13 patients, and for closed fracture treatment, for generating longitudinal pressure in the treatment of fractures, for corrective osteotomy and for soft tissue distraction in 10 patients. Callus distraction in the hand has advantages over conventional techniques. Furthermore, the Ilisarov technique has its merits in certain fractures of the hand.

Adult↗

Normal length changes in hand bones during adulthood: exploratory study of ray two.

A longitudinal analysis was made of total length changes of the four epiphyseal bones of ray two, the index finger, during adulthood. Matched pairs of standardized hand-wrist radiographs on 37 individuals between earlier (means = 22 years) and later (means = 54 years) adult age-grades show that the distal and middle phalanges continue to increase in overall length; the proximal phalange exhibits no change; and the metacarpal significantly decreases in size. The changes in these normal adults are also discernible in cross-sectional data but are not obvious statistically. Causes of the specific increases and decreases remain speculative.

Adolescent↗

Attribution of hand bones to sex and population groups.

Forensic anthropologists assign sex and population group (race) to individuals on the basis of skeletal remains. While the most useful bones for these determinations are cranial and pelvic, these are not always available. The purpose of this paper is to provide models for classification using metacarpals and hand phalanges. Four samples of 40 individuals each (black and white males and females) form the dataset. Measurements include lengths and radioulnar and dorsopalmar widths of the 19 bones of each hand. The large number of total variables necessitated separate models for metacarpal and phalangeal categories; due to the considerable number of significant differences between corresponding right and left hand variables, separate models were created for right and left sides. A stepwise discriminant procedure was used to select variables, with some highly correlated (r > 0.85) variables subsequently removed. The model for left hand metacarpals has the greatest power of discrimination (89.4%); that for right hand middle phalanges, the least (71.7%). Metacarpals assign approximately 87-89%, proximal phalanges 76-79%, middle phalanges 72-79%, and distal phalanges 81-83% of individuals to their correct sex and population groups. Models exchanging variables selected from one side for corresponding variables on the other show discriminating power ranging from 72.3 to 85.6%. Thus roughly 70-90% of individuals are correctly classified by these models; more conservative "jackknife" estimates yield a success rate of approximately 67-82%. When these models are used for classification of sex alone, 89.9-94.4% ("jackknife" range, 88.7%-94.4%) of cases are correctly classified; for race alone, 80.5-98.1% ("jackknife" range, 77.4-96.9%).

Adult↗

Transmission disequilibrium test for hand bone mineral density and 11q12-13 chromosomal segment.

The main aim of the present study was to test the hypothesis that the bone mineral density (BMD) assessed from radiographs of the hand phalanges in a random sample of ethnically homogeneous pedigrees is linked to the 11q12-13 chromosomal segment. The data for the study were gathered from 574 Chuvasha individuals belonging to two- and three-generation pedigrees who live in small villages in the Bashkortostan autonomy, Russia. Preliminary statistical-genetic analysis of the BMD in the pedigrees studied showed that potential genetic effects were highly significant ( p<0.001, in comparison with the model assuming no genetic effect), and explained at least 36% of the BMD variation adjusted for sex and age differences. For the transmission/disequilibrium test (TDT) used in our study, a total of 163 nuclear families with two sibs on average were available. Seven DNA microsatellite markers ( D11S1313, D11S1765, D11S987, D11S913, D11S983, D11S1314, D11S916) with average spacing of 2 cM on the chromosomal area 11q12-13 were selected for the TDT. The nominal p values ( p<0.05-0.0015) obtained from three TDT-type tests used for random and extreme-threshold sampling designs pointed consistently to possible linkage disequilibrium between BMD and some of the DNA markers. There was evidence for possible linkage disequilibrium in the upper part of the chromosomal segment studied (markers D11S1313 and D11S1765), and also in the lower part (markers D11S1983 and D11S1314). The lowest nominal p values (0.0015-0.0067) were obtained from three TDT-type tests for marker D11S1313. However, our findings must still be treated with great caution.

Adult↗

Radiologic study of endosteal, intracortical, and periosteal surfaces of hand bones in metabolic bone diseases.

In metabolic bone diseases, subtle abnormalities occur on the three surfaces of bone, the recognition of which is important for diagnosis, as well as in follow-up studies, to recognize progression or regression. These resorptive and formative changes are best studied in fine-detail hand radiographs under 6 to 8 times magnification by a relatively simple radiologic method (microradioscopy). The periosteal resorption of hyperparathyroidism is thus recognized earlier than by regular radiography, and intracortical resorption, not detectable by the naked eye, can be visualized. The latter is also seen frequently in nutritional osteomalcia, renal osteodystrophy, and thyrotoxicosis, and sometimes in acromegaly. Endosteal resorption in developing involutional osteoporosis can also be recognized more efficiently by microradioscopy than by ordinary radiographs without magnification. Fine-detail hand radiographs may thus be used as an inexpensive preliminary measurement for diagnosis of osteoporosis.

Bone Diseases, Metabolic↗

[Assessment of the hereditary and environmental influence on the growth of hand bones in twin children].

Forty pairs of twins from 6 to 15 years of age were subjected to two rentgenographies of the right hand. The degree of similarity between the twins of one pair was studied by the value of the absolute and relative increase of sizes of the hand phalanges. Zygotes, sex and age of children were taken into account. The effect of hereditary factors on the growth of hand phalanges in boys is pronounced better than in girls. In the formers the degree of similarity between the twins of one pair is lower than in the latters. In 12-15 years of age such similarity is higher than in 8-11 years old twins.

Adolescent↗