Cribra orbitalia is correlated with the meningo-orbital foramen and is vascular and developmental in nature

Cribra orbitalia is a phenomenon with interdisciplinary interest. However, the etiology of cribra orbitalia remains unclear. Recently, the appearance of cribra orbitalia was identified as vascular in nature. This study assessed the relationship between anatomical variation of vasculature, as determined by the presence of meningo-orbital foramina, and the presence of cribra orbitalia in 178 orbits. Cribra orbitalia was identified in 27.5% (49:178) of orbits (22.7%, 35:154 adult orbits and 58.3%, 14:24 subadult orbits) and meningo-orbital foramina were identified in 65.8% (100:152) of orbits. Among the 150 total intact adult orbits (i.e., orbital roof and posterior orbits both intact), cribra orbitalia was found in 35 (23.3%). Of these 35 occurrences of cribra orbitalia, 32 (91.4%) had the concurrent finding of a meningo-orbital foramen. However, in the absence of the meningo-orbital foramen, cribra orbitalia was only found in three sides out of the total sample of intact orbits (3:150; 2.0%). Fisher's exact test revealed that the presence of cribra orbitalia and the meningo-orbital foramen were statistically dependent variables (p = .0002). Visual evidence corroborated statistical findings—vascular impressions joined cribra orbitalia to meningo-orbital foramina. This study identifies that individuals who possess a meningo-orbital foramen are anatomically predisposed to developing cribra orbitalia. Conversely, cribra orbitalia is unlikely to occur in an individual who does not possess a meningo-orbital foramen. Thus, the antecedent of cribra orbitalia is both vascular and developmental in nature. This report represents an important advancement in the understanding of cribra orbitalia—there is an anatomical predisposition to the development of cribra orbitalia.     

Novel TTV variants isolated in an epidemic of hepatitis of unknown etiology

TT virus (TTV) is a recently discovered single-stranded DNA virus that has been reported to be associated with elevated transminase levels in the patients with posttransfusion hepatitis of unknown etiology. TTV prevalence is very high in the common population and its pathogenicity remains unclear. In this study, we performed an epidemiological study to investigate the infection rate of TTV and its role in an epidemic of unknown-etiology hepatitis. Moreover, two TTV isolates named L01 and L02 were cloned from the serum of a patient with unknown-etiology hepatitis. Eighty-one subjects were included in the study and were divided into two groups: 18 in the case group and 63 in the control group. TTVDNA was detected by nested PCR from sera samples. The infection rates of TTV in case and control groups were 33.3 and 38.9%, respectively. There was no significant difference between the two groups. Homology analysis showed that L01 had a very poor homology with other TTV isolates and L02, and L02 was 75.5% identical to JA10. The result does not support TTV as a causative agent in this epidemic. The genetic divergence between L01 and other TTV isolates beyond genotype, so it represents a new genotype of TTV.     

Dnm3os,a non‐coding RNA,is required for normal growth and skeletal development in mice

Dnm3os, a gene that is transcribed into a non‐coding RNA (ncRNA), contains three micro RNAs (miRNAs), miR‐199a, miR‐199a*, and miR‐214, whose functions remain unknown in mammals. In this study, we introduced the lacZ gene into the Dnm3os locus to recapitulate its expression pattern and disrupt its function. Dnm3os^+/lacZ heterozygous embryos showed β‐galactosidase activity, which reflected the authentic expression pattern of Dnm3os RNA. Most of the Dnm3os^lacZ/lacZ homozygous pups died within one month of birth. After birth, Dnm3os^lacZ/lacZ mice exhibited several skeletal abnormalities, including craniofacial hypoplasia, defects in dorsal neural arches and spinous processes of the vertebrae, and osteopenia. Importantly, the expression of miR‐199a, miR‐199a*, and miR‐214 was significantly down‐regulated in Dnm3os^lacZ/lacZ embryos, supporting the assumption that Dnm3os serves as a precursor of these three miRNAs. Thus, Dnm3os has emerged as an miRNA‐encoding gene that is indispensable for normal skeletal development and body growth in mammals. Developmental Dynamics 237:3738–3748, 2008. © 2008 Wiley‐Liss, Inc.     

Frequency variations of discrete cranial traits in major human populations. I. Supernumerary ossicle variations

Four supernumerary ossicle variations—the ossicle at the lambda, the parietal notch bone, the asterionic bone, and the occipitomastoid bone—were examined for laterality differences, intertrait correlations, sex differences, and between group variations in the samples from around the world. Significant laterality differences were not detected in almost all samples. In some pairs of traits, significant association of occurrence were found. Several geographic samples were sexually dimorphic with respect to the asterionic bone and to a lesser extent for the parietal notch bone. East/Northeast Asians including the Arctic populations in general had lower frequencies of the 4 accessory ossicles. Australians, Melanesians and the majority of the New World peoples, on the other hand, generally had high frequencies. In the western hemisphere of the Old World, Subsaharan Africans had relatively high frequencies. Except for the ossicle at the lambda, the distribution pattern in incidence showed clinal variation from south to north. Any identifiable adaptive value related to environmental or subsistence factors may be expressed in such clinal variation. This may allow us to hypothesise that not only mechanical factors but a founder effect, genetic drift, and population structure could have been the underlying causes for interregional variation and possible clines in the incidences of the accessory ossicles.     

Evaluating sexual dimorphism in the human mastoid process: A viewpoint on the methodology

The mastoid process is one of the most sexually dimorphic features in the human skull, and is therefore often used to identify the sex of skeletons. Numerous techniques for assessing variation in the size and shape of the mastoid process have been proposed and implemented in osteological research, but its complex form still presents difficulties for consistent and effective analysis. In this article, we compare the different techniques and variables that have been used to define, measure, and visually score sexual dimorphism in the mastoid process. We argue that the current protocols fail to capture the full morphological range of this bony projection, and suggest ways of improving and standardizing them, regarding both traditional and 3D‐based approaches. Clin. Anat. 28:593–601, 2015. © 2015 Wiley Periodicals, Inc.     

Application of osteology to forensic medicine

The four main features of biological identity are sex, age, stature, and ethnic background. The forensic osteologist aims to establish these attributes for an individual from their skeletal remains. Many techniques are available for the osteological determination of sex in the adult but it is one of the most difficult biological factors to ascribe to juvenile remains. Conversely, there are a multitude of markers to estimate age in the young skeleton but ageing becomes less accurate with increasing years. Stature is usually a relatively straightforward parameter to establish in the adult. In the juvenile, it is naturally correlated with age but is complicated by differences in rates of growth both between the sexes and between individuals. Determination of ethnic identity is the least reliable and is hampered by lack of data on many populations. This paper reviews the principal methods used to establish identity and comments on their reliability and accuracy in the forensic context.     

青少年足长与体重关系的研究

本文用AppleⅡ电子计算机对7-17岁1533名青少年的足长与体重关系进行了研究,发现二者呈正相关。r=0.85(女)——0.90(男)。p<0.05(女)——0.005(男)。并求出由足长推算体重的回归方程:(1)■=4.23x0-54.66=4.08(男);(2)■=4.37x-56.79±4.45(女)。以及由体重推算足长的回归方程:(3)■=14.30+0.19±0.85(男);(4)■=14.76+0.17x±0.86(女)。     

Accurate prediction of a minimal region around a genetic association signal that contains the causal variant

In recent years, genome-wide association studies have been very successful in identifying loci for complex traits. However, typically these findings involve noncoding and/or intergenic SNPs without a clear functional effect that do not directly point to a gene. Hence, the challenge is to identify the causal variant responsible for the association signal. Typically, the first step is to identify all genetic variation in the locus region, usually by resequencing a large number of case chromosomes. Among all variants, the causal one needs to be identified in further functional studies. Because the experimental follow up can be very laborious, restricting the number of variants to be scrutinized can yield a great advantage. An objective method for choosing the size of the region to be followed up would be highly valuable. Here, we propose a simple method to call the minimal region around a significant association peak that is very likely to contain the causal variant. We model linkage disequilibrium (LD) in cases from the observed single SNP association signals, and predict the location of the causal variant by quantifying how well this relationship fits the data. Simulations showed that our approach identifies genomic regions of on average ∼50 kb with up to 90% probability to contain the causal variant. We apply our method to two genome-wide association data sets and localize both the functional variant REP1 in the α-synuclein gene that conveys susceptibility to Parkinson''s disease and the APOE gene responsible for the association signal in the Alzheimer''s disease data set.     

Anatomical knowledge among medieval folk artists: osteological interpretation of two Dance of Death motifs

Anatomy has a long history that started with dissection of animals and then expanded and flourished thanks to dissections performed on human bodies. Artists had a crucial role in uncovering the secrets of human anatomy. While most studies have focused on the influence of famous Renaissance artists on human anatomy studies, the anatomical drawings by pre‐Renaissance artists and local craftsmen have remained in their shadow. One of the most popular artistic genres in which complete or parts of human skeletons appear is the Dance of Death (Danse Macabre). This article is an anthropological study of two medieval Dance of Death frescoes that are unusual in being relatively early as well as accurately datable. A comparative morphological analysis of the two late 15th century works present in Istria has been conducted. The two works were painted by two local masters and show how the artists filled the gaps in their knowledge of human anatomy mostly with insights into animal bones and imagination. Their artworks, even though only 16 years apart, demonstrate substantial differences in the representation of the skeletons. The article argues that the history of medicine and of art could make good use of osteology and physical anthropology in attempts to define and understand how anatomical knowledge developed among pre‐Renaissance and post‐Renaissance artists and local people.     

Relationship between stimulation train characteristics and dynamic human skeletal muscle performance

Aim: The purpose of the present study was to investigate the effect of activation frequency on dynamic human muscle performance for a range of train durations and number of pulses during free limb movement. Methods: The quadriceps femoris muscles of 10 subjects were activated with stimulation trains with different activation frequency, train durations and number of pulses. The peak excursion produced in response to each train was the dependent measure of muscle performance. Results: The excursion–frequency (for a 300‐ms train duration) and excursion–train duration (for trains with frequencies of 10, 30 or 59 Hz) relationships could each be fit with a two‐parameter exponential equation (R² values > 0.97). Because the number of pulses in a stimulation train is a function of both train duration and frequency, the excursion produced as a function of the number of pulses was characterized by a three‐parameter exponential equation that represented this combined relationship. The relationship between the measured and predicted excursions in response to a wide range of stimulation trains had a R² = 0.96. In addition, one‐way repeated measures analyses of variance (anova s) showed that the frequency at which the maximum excursion was produced increased with an increase in the number of pulses in the trains tested. Conclusion: These results show the importance of train duration and the number of pulses contained within a train on the relationship between activation frequency and human skeletal muscle performance.     

A Likelihood Ratio Approach to Family-based Association Studies with Covariates

We introduce a procedure for association based analysis of nuclear families that allows for dichotomous and more general measurements of phenotype and inclusion of covariate information. Standard generalized linear models are used to relate phenotype and its predictors. Our test procedure, based on the likelihood ratio, unifies the estimation of all parameters through the likelihood itself and yields maximum likelihood estimates of the genetic relative risk and interaction parameters. Our method has advantages in modelling the covariate and gene‐covariate interaction terms over recently proposed conditional score tests that include covariate information via a two‐stage modelling approach. We apply our method in a study of human systemic lupus erythematosus and the C‐reactive protein that includes sex as a covariate.     

Pilot Study for Reconstruction of Soft Tissues: Muscle Cross‐Sectional Area of the Forearm Estimated from Cortical Bone for a Neolithic Sample

On a basis of a method for muscle cross‐sectional area estimation from cortical bone area that was previously developed (Slizewski et al. Anat Rec 2013; 296:1695–1707), we reconstructed muscle cross‐sectional area at 65% of radius length for a sample of Neolithic human remains from the Linear Pottery Culture (ca. 5,700–4,900 years BC). Muscle cross‐sectional area estimations for the Neolithic sample were compared to in vivo measurements from a recent human sample. Results demonstrate that the Neolithic individuals had larger muscle cross‐sectional area relative to radius length than the contemporary humans and that their forearms were more muscular and robust. We also found significant differences in relative muscle cross‐sectional area between Neolithic and recent children that indicate different levels of physical stress and isometric activities. Our results fit into the framework of studies previously published about the sample and the Linear Pottery Culture. Therefore, the new approach was successfully applied to an archaeological sample for the first time here. Results of our pilot study indicate that muscle cross‐sectional area estimation could in the future supplement other anthropological methods currently in use for the analysis of postcranial remains. Anat Rec, 297:1103–1114, 2014. © 2014 Wiley Periodicals, Inc.     

SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

Diastrophic dysplasia (DTD) is an autosomal recessive skeletal dysplasia caused by SLC26A2 mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2 mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED). DTD is overrepresented in Finland and we speculated that this may have influenced the prevalence and spectrum of SLC26A2‐related skeletal conditions also in Sweden. We reviewed the patient registry at Department of Clinical Genetics, Karolinska University Hospital, Stockholm to identify subjects with SLC26A2 mutations. Seven patients from six families were identified; clinical data were available for six patients. All but one patient had one or two copies of the Finnish SLC26A2 founder mutation IVS1+2T>C. Arg279Trp mutation was present in compound heterozygous form in five patients with phenotypes consistent with rMED. Their heights ranged from ?2.6 to ?1.4 standard deviation units below normal mean and radiographic features included generalised epiphyseal dysplasia and double‐layered patellae. Two rMED patients had hypoplastic C2 and cervical kyphosis, a severe manifestation previously described only in DTD. Our study confirms a high prevalence of rMED in Sweden and expands the phenotypic manifestations of rMED.     

中朝两国朝鲜族头面部体质特征的比较

目的：比较中朝两国朝鲜族头面部体质特征。方法：对中国吉林省朝鲜族成人的头面部进行活体测量，测量项目为３８项，做ｔ检验，与朝鲜不同地区朝鲜族之间进行平均相对偏差值分析和聚类分析。结果：中国吉林省朝鲜族与平安北道和咸镜北道朝鲜族之间的平均相对偏差值最小，与平安南道和黄海道朝鲜族之间的平均相对偏差值最大。中国吉林省朝鲜族与咸镜北道和平安北道的朝鲜族之间的欧氏距离值最小，与平安南道和黄海道朝鲜族之间的欧氏     

NEAT – non‐exercise activity thermogenesis – egocentric & geocentric environmental factors vs. biological regulation

Non‐exercise activity thermogenesis (NEAT) is the energy expenditure of all physical activities other than volitional sporting‐like exercise. NEAT includes all those activities that render us vibrant, unique and independent beings such as going to work, playing guitar, toe‐tapping and dancing. The factors that account for the 2000 kcal day^?1 variability of NEAT can be categorized as environmental or biological. The environmental determinants of NEAT can be view using one of two models. In the egocentric model we consider a single person as the focus, e.g. ‘my job’. In the geocentric model we consider the ‘environment’ as the focus, e.g. well‐lit and safe walk ways. These models provide us with a theoretical framework to understand NEAT and how best to intervene to promote NEAT. As well as environmental effectors of NEAT, there are also biological regulatory mechanisms that enable us to account for three‐quarters of the biological variance in susceptibility and resistance to fat gain with human over‐feeding. NEAT is likely to be regulated through a central mechanism that integrates NEAT with energy intake and energy stores so that NEAT is activated with over‐feeding and suppressed with under‐feeding. In conclusion, NEAT is likely to serve as a crucial thermoregulatory switch between energy storage and dissipation that is biologically regulated and influenced, and perhaps over‐ridden, by environment. Deciphering the role of NEAT may lead to a better understanding of the pathogenesis, prevention and treatment of obesity.