Dysharmonic maturation of the hand in the congenital malformation syndromes

In many congenital malformation syndromes the pattern of hand-wrist development does not fit the sequence pictured in the Greulich-Pyle atlas. Not infrequently, there is a difference in maturation level of carpal and phalangeal centers in excess of that found in clinically normal children. Usually, the carpal centers are less developed than the phalangeal centers, whereas overall skeletal maturation is retarded (as in trisomy 18) or advanced (as in cerebral gigantism). In still other conditions, specific carpal centers are disproportionately delayed. By way of example, the capitate is differentially delayed in epiphyseal dysplasia, the lunate in homocystinuria, and the scaphoid in Fanconi's anemia and other radial hypoplasia syndromes. Side to side (i.e., bilateral) asymmetries may also occur in the developing hand, as in paralysis, in conditions involving increased local vascularity (as in hemangioma and rheumatoid arthritis) or in conditions associated with decreased vascularity. In the presence of excessive dysharmonic development or major bilateral asymmetry, with or without agenesis of one or more hand bones, assigning meaningful bone ages in congenital malformation syndromes becomes difficult. On the other hand, the degree and pattern of dysharmonic maturation may be helpful in diagnosis.     

Anthropometry and numerical taxonomy in clinical genetics: An example of applied biological anthropology

Biological anthropologists can contribute a unique perspective as well as technical expertise to the diagnosis and classification of genetic disorders. Anthropometry has been used with increasing frequency to characterize syndromes and to establish ranges of variation within syndromes. The specific anthropometric-radiologic technique of metacarpophalangeal pattern profile analysis has proven useful in discriminating individuals with the Prader-Labhart-Willi (PLW) syndrome from unaffected persons. Analysis of these data also indicate a negative correlation between age and Z-score transformations of individual hand bone lengths. These findings sound a cautionary note to clinical investigators who would use the Z-score transformation to standardize for age and sex. Problems encountered in the classification of genetic syndromes afford many parallels with those faced by anthropologists in the classification of living and fossil populations. The reliance on “key” traits and the necessity of focusing on pedigree analysis results in a deemphasis of the total range of variation and typological thinking. Application of numerical taxonomic techniques to the classification of the heterogeneous connective tissue disease osteogenesis imperfecta (OI) illustrates the heuristic value of this technique and points out the need to consider phenotypic overlap when defining typologies. Clinical genetics affords just one example of an area in medicine where the unique training and generalist perspective of the biological anthropologist is in demand. The decline in the availability of positions in the traditional academic habitat for biological anthropologists makes it imperative that graduate students be aware of alternatives and that they obtain training in the practical skills which such alternatives will demand.     

Fitting manifold surfaces to three-dimensional point clouds

We present a technique for fitting a smooth, locally parameterized surface model (called the manifold surface model) to unevenly scattered data describing an anatomical structure. These data are acquired from medical imaging modalities such as CT scans or MRI. The manifold surface is useful for problems which require analyzable or parametric surfaces fitted to data acquired from surfaces of arbitrary topology (e.g., entire bones). This surface modeling work is part of a larger project to model and analyze skeletal joints, in particular the complex of small bones within the wrist and hand. To demonstrate the suitability of this model we fit to several different bones in the hand, and to the same bone from multiple people.     

Diagenesis of bone from Border Cave: implications for the age of the Border Cave hominids

Hominids from the site of Border Cave purportedly provide direct evidence for the early emergence of anatomically modern humans (AMH) in Southern Africa. ESR dating of Border Cave faunal enamel has confirmed the antiquity of the sediments, although questions persist regarding the provenience of the hominid specimens. Here we establish that, at Border Cave as elsewhere, bone mineral crystallinity, measured as the infrared (IR) splitting factor (SF), distinguishes between contemporary and recent bones on the one hand, from Middle Stone Age (MSA) bones on the other. Two hominid postcranial bones recovered in 1987 from a slumped profile, having essentially no provenience, are shown to have crystallinity indices consistent with the MSA fauna, while two of the purportedly ancient AMH specimens (BC3 and BC5) have values consistent with recent fauna. We conclude that BC3 and BC5 may be considerably younger than the sediments from which they were recovered.     

Tubular hand bone growth during the latter half of the prenatal period: an allometric analysis

The growth of the 19 tubular hand bones from fetal months 5 to 9 was studied by the allometric method. The hand bones were carefully dissected under a low power stereoscopic microscope. The length and breadth of all bones was found to be monophasic in relation to crown-rump length. In general, maximum bone and ossified shaft lengths in the same row group demonstrate similar allometric coefficients. The specific growth rate of ossified shaft length for all fetal hand bones is greater than the growth rate of maximum length. The highest allometric coefficients for both maximum length and ossified shaft length were obtained from the middle phalanges. The shape of the metacarpals and distal phalanges becomes thinner, while the other bones become thicker or maintain their length-breadth ratio. The relative growth pattern of the first proximal phalanx differed from the middle phalangeal group of the other digits. This suggests that current nomenclatures for the three bones of the pollex is appropriate.     

Principal component analysis of the elongation of metacarpal and phalangeal bones

A hypothesis that the first principal component computed from the covariance matrix of logarithms reflected the specific growth rates of corresponding bones was taken to analyze the growth pattern of the tubular bones of the hand. The total length of 19 tubular bones of the right hand was measured on standardized radiographs of Japanese children (33 boys, 33 girls). Metacarpals in boys and bones of the fifth digit in girls showed higher growth coefficients. The second, third and fourth proximal, and the third and fourth middle phalanges showed lower coefficients for both sexes. These observations suggest the signs of proximal row dominance in boys and of fifth ray dominance in girls in the elongation of the hand bones. A marked sex difference was found in the fifth middle phalanx. In girls the growth coefficients of this bone was much larger than any other bones, but was moderate in boys.     

The petrous bone--a new sampling site for identifying early dietary patterns in stable isotopic studies

Intraskeletal variation in the composition of carbon (delta(13)C) and nitrogen (delta(15)N) stable isotopes measured in collagen is tested from various human bones and dentine. Samples were taken from the femur, rib, and petrous part of the temporal bone from well-preserved skeletons of both adults (n = 34) and subadults (n = 24). Additional samples of dentine from the root of 1st molars were taken from 16 individuals. The skeletal material is from a medieval cemetery (AD 1200-1573) in Holbaek, Denmark. Our results indicate that the petrous bone has an isotopic signal that differs significantly from that of femur and rib within the single skeleton (P < 0.001 and P < 0.001, respectively), with only minor variation seen between femur and rib. On the other hand, there was no significant difference between the petrous bone and the 1st molar. The intraskeletal variation may reflect differences in turnover rate among skeletal elements. The inner periosteal layer of the petrous bone is formed in uterus and does not undergo any further remodelling after the age of 2 years, whereas the rib and femur have a continuous turnover rate of approximately 5 and 10-20 years, respectively. From the results of this study it is believed the petrous bone may be a new useful bone element and a supplement or a proxy for teeth in the analysis of early dietary patterns as it may reflect diet in fetal stages and early years of life.     

Ossification of the human fetal basicranium

Previous investigations of prenatal development of the human cranium have not identified the sequence of its ossification. The purpose of the present study was to elucidate the pattern of skeletal maturity of the cranial bones in the midsagittal region anterior to the foramen magnum. This study is based upon a radiographic and histochemical investigation of midsagittal tissue blocks of the cranial bases of 73 human fetuses derived from the first half of the prenatal period. A marked regularity in the ossification pattern of the bones in the midsagittal part of the human cranium was observed. Ossification starts in the frontal bone. The sequence in which the next bones ossify is occipital bone, basisphenoid bone, presphenoid bone, and ethmoid bone. The material was divided into 7 maturity stages devised for this analysis. The stages were related to general fetal size (crown-rump length) and to general fetal maturation (composite number of ossified bones in hand and foot). Skeletal development of the median part of the human cranium is not strictly correlated with the size or the stage of general maturation of the fetuses. Knowledge of normal skeletal development is necessary for understanding anomalies of development.     

Modern human metrical variation in the first three manual rays

This study utilizes radiographic samples of white, black. Mexican-American, and Asian males and females from the Ten State Nutrition Survey to examine the degree and pattern of variation seen in measurements of bones from the three radial hand rays. Pattern profile analysis is used to portray graphically the intersample differences for 44 length and width variables. This technique allows a visual assessment of intersample differences and extends results of statistical analyses. Base widths serve best in separating male and female groups. Males have a longer first ray with respect to the second ray and a longer first proximal phalanx compared with the second proximal phalanx than do females. Certain ray III variables seem to hold the most promise for separating samples within one sex. Correlation of pattern profile curves demonstrates that within nonwhite ethnic samples the shape of male and female curves is similar when plotted against the white reference samples. Coefficients of variation for the large white samples are highest for mid-widths and tuft widths of distal phalanges and lowest for lengths and base widths of proximal phalanges II and III. While some of the variation between groups may serve to distinguish populations and may relate broadly to evolutionary history, it is difficult to show clear functional correlates for the majority of the variation detected. It is suggested that hypotheses relating morphology of hominid hands to hand function and behavior should consider the extent of modern human hand bone variation.     

The influence of mass,volume and density on the frequency of recovery of fossil hominid hand and wrist bones

A study of the mass, volume and density of each of the wrist and hand bones of male and female human skeletons was undertaken. It was found that the mass and volume (i.e. size) of the bones are well correlated with the relative frequencies of preservation ofAustralopithecus and earlyHomo wrist and hand bones from fossil hominid sites in Africa. In general, the larger the bone, the greater its preservation frequency. In contrast to findings on bovid bones, the density of hand and wrist bones is not well correlated with the frequency of such bones recovered from these sites. These findings may be explained in terms of the agents of deposition of the bones, the physical nature of the deposit, and the methods of extraction of the fossils from the deposit.     

Age-related changes and secular trends in hand bone size

The aim of the present study was to evaluate age- and sex-related changes in the size and shape of long hand bones in a large Chuvashian cohort using cross-sectional and longitudinal study designs. The data were gathered in 1994 (557 individuals) and 2002 (513 individuals). The latter sample included 260 individuals that were studied only during the second expedition, and 253 individuals who were previously investigated in 1994. Statistical analyses included a maximum likelihood-based model-fitting technique and a t-test comparison. We found evidence for secular trend of hand bone size in both males and females within the Chuvashian population. In males, the length and total area of the long hand bones were greater in younger individuals, but mid-shaft bone width remained almost the same in individuals born at different periods of the last century. In females, the length of the hand bones and total bone area remained unchanged in women born after 1937. However, bone mid-shaft width gradually decreased in women born after 1940. Therefore, we argue that, at least within the Chuvashian population, there is a secular trend towards a more gracile appendicular skeleton in both males and females.     

Low-field magnetic resonance imaging study on carpal arthritis in systemic sclerosis - low-grade erosive arthritis of carpal bones is an unexpected and frequent disease manifestation

Introduction

The aim of the present study was to assess the prevalence and characteristics of subclinical arthritis of carpal and metacarpophalangeal joints in patients with systemic sclerosis (SSc).

Methods

Low-field (0.2 T) magnetic resonance imaging (MRI) was performed in consecutive patients with SSc attending our center between January 2010 and March 2011. Results were assessed in a standardized manner using the Rheumatoid Arthritis Magnetic Resonance Imaging Score (RAMRIS) and standardized assessments of all hand joints. Patients with arthritis due to overlap syndromes were excluded.

Results

Of 38 inpatients and eight outpatients who were screened for inclusion, 30 patients participated in the study and 26 patients could be evaluated. Erosions, bone marrow edema, synovitis, and joint effusions were found in 87%, 37%, 68%, and 58%, respectively, and 24% of patients had additional tenovaginitis. Arthritis affected only a low number of joints per analyzed hand. All bones and joints could be affected, but synovitis and bone marrow edema occurred predominantly in the proximal row of carpal bones, most frequently affecting the lunate bone. The extent of inflammatory changes measured with the RAMRIS correlated significantly with the functional status assessed with the validated German functional score questionnaire Funktionsfragebogen Hannover.

Conclusion

Low-grade arthritic changes on low-field MRI are frequent in patients with pure SSc. The features of arthritis in SSc differ from rheumatoid arthritis. The distribution, the MRI pattern and the predilection for the lunate bone raise the hypothesis that arthritis in SSc may be caused not only by immunological inflammation but also by ischemic mechanisms.     

Does the occurrence of Harris lines affect the morphology of human long bones?

The purpose of the study is to check the relationship between the occurrence of Harris lines and the morphological differentiation of the long bones of the human skeleton as an indicator of living conditions. The bone material (233 adult individuals, including 120 males and 113 females) was collected at a mediaeval burial ground in Cedynia, Poland. Recommended methods were applied to estimate the sex and age of the individuals (Ferembach et al 1979; Buikstra & Ubelaker 1994). The results obtained indicate that there is no clear relationship between metric characteristics of the studied long bones and the occurrence of Harris lines. Adverse environmental factors, which triggered the occurrence of Harris lines did not strongly affect the growth of long bones and did not change their morphology. Regardless of the phase of ontogenetic development in which the arrested growth lines (HL) formed, no effect of this fact on the final length of bones was observed. Similarly, no statistically significant differences were found in the proportions of bones between individuals reacting to adverse living conditions with the formation of Harris lines and those, whose bones were free of Harris lines. One may assume that Harris lines are of significance in epidemiological research and when assessing the general health profile of a population, but they are less useful in research on morphological reactions of individuals to living conditions.     

Dual-color bioluminescent assay using infected HepG2 cells sheds new light on Chlamydia pneumoniae and human cytomegalovirus effects on human cholesterol 7α-hydroxylase (CYP7A1) transcription

Human bones, recovered from excavations, are an important biological archive of information. In particular, the analysis of the collagen fraction is useful for paleodietary reconstruction, via light stable isotopes, and for (14)C dating. Generally, collagen extraction procedures do not prevent loss of integrity of proteins. As a consequence, information about the state-of-remains preservation is unavailable. Here we describe a "soft" nondestructive CH(3)COOH-based method to recover collagen from archaeological bones, and also to obtain material for successive isotopic analyses. Our isotopic measurements on the extracts indicate that the CH(3)COOH-based method of extraction may be routinely employed in the context of paleodiet studies. In addition, we propose that biochemical characterization by denaturant electrophoresis and Western blot on CH(3)COOH extracts may be used as a bone collagen quality indicator.     

掌骨X线测量推断身高的研究

随机选取在校健康大学生186人(男90人, 女96人, 年龄18—27岁), 拍摄双手后前位372侧X线片, 测量身高和掌骨的长与宽。通过掌骨和身高的测量, 分析掌骨各参数与身高的关系, 为人类学和法医学的身高推断积累研究资料。掌骨长与身高的相关性明显高于掌骨宽, 其中男性第2掌骨长与身高相关性最高, 其线性回归方程为Ym=1097.320+9.337X; 女性第3掌骨长与身高的相关性最高, 其线性回归方程为Yf=1016.752+9.878X。男性第2掌骨长和女性第3掌骨长与身高的相关性最高, 可分别作为推断身高的依据。     

Bone density spatial patterns in the distal radius reflect habitual hand postures adopted by quadrupedal primates

Primates adopt diverse hand postures during terrestrial and above-branch quadrupedal locomotion--knuckle-walking, digitigrady, and palmigrady--that incorporate varying degrees of wrist dorsiflexion (i.e., extension). Although relationships between hand postures, wrist joint range of motion, and the external properties of wrist bones (e.g., surface morphology) have been examined, the relationship between hand postures and the internal properties of wrist bones (e.g., bone density) remains largely unexplored. Because articular joint surfaces transmit mechanical loads between conjoining limb bones, measures of density (e.g., magnitudes and patterns) in the subchondral cortical plate of bone of the distal radius can be used to evaluate load regimes experienced by the wrist joint in different hand postures. We assessed apparent (i.e. optical) density patterns in several extant catarrhine primate taxa partitioned into different hand posture groups: knuckle-walking apes, digitigrade monkeys, and palmigrade monkeys. Computed tomography osteoabsorptiometry (CT-OAM) was used to construct maximum intensity projection (MIP) maps of apparent densities. High apparent density areas were characterized relative to a dorsal-volar reference plane and compared across hand posture groups. All groups had large percentage areas of high apparent density in the dorsal region of the distal radial articular surface. Only knuckle-walking apes, however, had a large percentage area of high apparent density in the volar region of the distal radial articular surface. These patterns are consistent with radiocarpal articulations in specific hand postures as evidenced by available radiographic data and suggest that the different habitual hand postures adopted by monkeys and African apes during quadrupedal locomotion have different stereotypic loading patterns. This has implications for understanding the functional morphology and evolution of knuckle-walking and digitigrade hand postures in primates.     

Sequence of ossification of the foot in marmosets (Saguinus oedipus)

The cleared and alizarin-stained feet of eight marmoset (Saguinus oedipus) fetuses revealed a sequence of initial ossification of the 19 bones of the foot that is almost totally different from that of man. The most striking difference is in the order of ossification of the distal phalanx of the big toe; in man it is the first bone to commence ossification, in the marmoset it is the fourteenth. It is suggested that the sequence of initial ossification in the foot may be species specific among the primates and may serve as a useful marker of teratogenic action.     

Virtual structural analysis of tibial fracture healing from low-dose clinical CT scans

Quantitative assessment of bone fracture healing remains a significant challenge in orthopaedic trauma research. Accordingly, we developed a new technique for assessing bone healing using virtual mechano-structural analysis of computed tomography (CT) scans. CT scans from 19 fractured human tibiae at 12 weeks after surgery were segmented and prepared for finite element analysis (FEA). Boundary conditions were applied to the models to simulate a torsion test that is commonly used to access the structural integrity of long bones in animal models of fracture healing. The output of each model was the virtual torsional rigidity (VTR) of the healing zone, normalized to the torsional rigidity of each patient’s virtually reconstructed tibia. This provided a structural measure to track the percentage of healing each patient had undergone. Callus morphometric measurements were also collected from the CT scans. Results showed that at 12 weeks post-op, more than 75% of patients achieved a normalized VTR (torsional rigidity relative to uninjured bone) of 85% or above. The predicted intact torsional rigidities compared well with published cadaveric data. Across all patients, callus volume and density were weakly and non-significantly correlated with normalized VTR and time to clinical union. Conversely, normalized VTR was significantly correlated with time to union (R² = 0.383, p = 0.005). This suggests that fracture scoring methods based on the visual appearance of callus may not accurately predict mechanical integrity. The image-based structural analysis presented here may be a useful technique for assessment of bone healing in orthopaedic trauma research.     

Identification of osteopontin in isolated rabbit osteoclasts.

Bone remodeling is a complex process coupling bone formation and resorption. Osteoblasts, the bone-forming cells, are known to produce various bone matrix proteins and cytokines; however, little is known about protein factors produced by osteoclasts or bone-resorbing cells. A method utilizing the high affinity of osteoclasts for tissue culture dishes was developed to isolate a large number of pure osteoclasts from rabbit long bones. A cDNA library was then constructed from these isolated osteoclasts, and differential cDNA screening was performed between osteoclasts and spleen cells. Two clones representing osteoclast-specific clones, named OC-1 and OC-2, were isolated. By Northern blot analysis, OC-1 was expressed in osteoclasts and in kidneys, whereas OC-2 was specific for osteoclasts. OC-1 was found to encode osteopontin from its nucleotide sequence, and therefore, osteopontin may have other functions for osteoclastic bone resorption besides osteoclast attachment to bone.     

Carpal bones of the Chiroptera in the comparative-anatomical and functional aspects

Data on investigation of hand sceletal bones carried out in eight genera of three families of bats were subjected to comparative-anatomical and functional analysis. Quantitatively, the hand sceletal bones of Chiroptera preserve constructive pattern general for the hand of terrestrial mammalians Pentadactilus. It has rudiments of the prefirst (Pp) and the seventh (Pm) rays. The latter is situated on the volar surface of the base Mc5. Scaphoid, semilunar and central carnal bones of Chiroptera, like those of Mototremata, some Marsupialia, Insectivorona and Carnivora merge together into one large bone--os lunatum. At the same time, the hand of Chiropter is a highly specialized structure, that is evident from the presence of articular restricotrs of anterior sagging of the wrist, crests and grooves directing movements in a strictly definite plane, from fan-like spreading and bringing together the rays, from very long metacarpal bones and proximal phalanges, from reduction of distal phalangs of the 3d and 5th fingers. Thus, the hand of Chiroptera is a unique example of combination of primitive, initial for pentadactule plantigrades wrist with signs of narrow specialization resembling, to some extent, those of Ungulata; only in Ungulata those signs developed on the base of digitigrades wrist.