The craniofacial identification of the remains from the Yekaterinburg burial

Based on expert evaluation of remains of 7 members of Imperial Romanov family and 4 persons in their attendance, the author demonstrates methodological approaches to identification craniocephalic studies in cases with group burials.     

The effect of family and social relations on the consumption of psychotropic drugs by the aged

Research has identified important psychometric differences between the original Depressive Experiences Questionnaire (DEQ; Blatt, D'Affliti, & Quinlan, 1976) and two of its most widely used revisions, which have failed to preserve the degree of between-scale orthogonality routinely observed with the original Dependency and Self-Criticism scales. The purpose of this study was (a) to examine construct validity for the recently developed McGill revision of the DEQ (Santor, Zuroff, & Fielding, this issue), which preserves between-scale orthogonality; (b) to compare the McGill revision of the DEQ with other existing revisions with respect to measures of personality, motivation, and interpersonal relatedness; and (c) to explore the correlates of items that appear to be responsible for maintaining the degree of orthogonality between measures of Dependency and Self-Criticism. Results suggest that (a) the McGill revision of the DEQ offers more valid estimates of the relations among dependency, self-criticism, and other theoretically relevant constructs, such as depressed mood and agreeableness, than other existing revisions and (b) items differentiating Dependency and Self-Criticism assess broad interpersonal orientations that can be characterized as communal or agentic. Results validate the newer McGill scales, further support the utility of the methods used in their development, and provide insights into the differences between Dependency and Self-Criticism.     

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study

We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.     

Person identification by means of a single unique dental feature

In the early part of the century, when adrenaline first became widely available, it was used in an uncontrolled manner and cases of ischaemic necrosis led to it falling into disfavour for hand surgery. Local anaesthesia with adrenaline is currently widely used for palmar and dorsal hand surgery but there remains a very deeply ingrained resistance to its use for digital anaesthesia. It is widely thought that it will cause irreversible digital artery vasospasm. This prospective study reports the effect of 2% lignocaine with 1:80,000 adrenaline digital blocks on various parameters of digital arterial blood flow in 100 consecutive patients. Our findings show that adrenaline only temporarily reduced digital blood flow. Perfusion of the digits persisted in every case.     

A study of the effects of group family play on family relations.

Examined the differences in family relations, as measured by Beaver's Self-Report Family Inventory (W. R. Beavers and R. B. Hampston, 1990), between families participating in specified group family play and those not participating. Ss in this study included 52 families consisting of 134 family members. The researcher used random sampling to assign the families to 4 groups according to the Solomon Four Group Design. Ss participating in group family play attended 7 session, 6 sessions included an interaction game. Findings show that family play can be effective in improving family relations and that problem skills can be practiced and developed in a non-threatening, engaging intervention such as family play. Experimental groups showed significant improvement in family relations, differences could not have been due to testing effects or maturation. The findings support the use of family play in group settings in both prevention and therapeutic milieus. Implications are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

The Na-(K)-Cl cotransporter family in the mammalian kidney: molecular identification and function(s)

A new solute carrier gene family, SLC12, was recently described based on the molecular identification of three electroneutral Na-(K)-Cl cotransport proteins. In mammals, these proteins are encoded by three distinct but related genes: SLC12A1, SLC12A2, SLC12A3, which are located on different chromosomes. Although the expression patterns of these three cotransport proteins differ significantly, all of them are expressed in the mammalian kidney and participate in several important aspects of renal function. This review summarizes the information learned from the molecular identification of these cotransporters, evaluates the patterns of expression within the kidney, and discusses the roles that these cotransporters play in renal physiology and pathophysiology.     

The participation of Yekaterinburg forensic medical experts in the expert assessment of the remains from a burial site near the village of Koptiaki

Enumerates grounds for experts evaluation carried out by Bureau of Forensic Medical Expert Evaluation of the Ministry of Health of Russia and Sverdlovsk Regional Bureau of Forensic Medical Expert Evaluation, lists the expert team members, and enumerates the methods of preparing the objects of expert evaluation (bone remains). Presents the results of assessing the date of burial, enumerates signs of exposure to thermal and chemical factors on the bones, and notes a callus on one skull.     

The family history component of cancer genetic risk counseling

This study evaluated effective resistances on the ventricular surfaces of arterially-perfused rabbit hearts. Effective resistances were determined with a four-electrode array that was parallel or perpendicular to epicardial fibers. Resistance along or across epicardial fibers was determined by applying current to the epicardium with two parallel line electrodes and measuring potentials in the region between the electrodes. Computer simulations were performed to gain insight into the distribution of current in the ventricular wall. The effective resistances were not different along versus across fibers. Simulations showed that transmural rotation of fibers causes current to be distributed differently when the electrode is oriented perpendicular versus parallel to epicardial fibers. When the array is oriented so that epicardial current is across fibers, the fraction of current that flows transmurally and along the deeper fibers increases while the fraction of current that flows epicardially decreases. This introduces isotropy of the effective resistance. Thus, in contrast to isolated cardiac fibers, the ventricular epicardium exhibits isotropic effective resistance due to transmural rotation of fibers. The rotation and isotropic resistance may be important for cardiac electrical behavior and effects of electrical current in the ventricles.     

Maternal identification from skeletal remains of an infant kept by the alleged mother for 16 years with DNA typing

This is a case study concerning maternal identification by DNA typing at various loci. An infant skeleton was found in the alleged mother's apartment after it was kept for 16 years. We obtained the skeletal remains as well as saliva stains from the alleged mother. DNA typing was conducted for three loci in the HLA class II region (HLA-DQA1, -DPB1, and DRB1), five loci with the AmpliType PM kit (LDLR, GYPA, HBGG, D7S8, and GC), five STR loci (LPL, vWA, F13B, TH01, and TPOX) and D-loop region in mtDNA for maternal identification. Sex determination was accomplished using fluorescent DNA capillary electrophoresis typing. Approximately 5 ng of human DNA was recovered from 1 g of femur bone retrieved from the infant skeletal remains. The probability of two unrelated Japanese sharing the same genotypes was estimated as 7.2 x 10(-11). The combined probability of exclusion that an individual is not the mother was also calculated at 0.998. We therefore conclude that the skeleton is from a female infant, and that there is no inconsistency in the claim that the infant was a daughter of the alleged mother.     

The application of molecular genetic techniques to the study of hypertensive diseases

The techniques of modern molecular genetics are shedding new light on hypertension and its sequelae. This article discusses techniques which have identified genes associated with hypertension and have pointed the way toward identifying the full cohort of genes operative in all forms of human hypertension. These techniques have expanded understanding of the pathophysiology of hypertension as well as its prevention.     

Optimising tension levelling process by means of genetic algorithms and finite element method

Abstract

This paper presents a method based on genetic algorithms and the finite element method which is useful for automatically adjusting the parameters of a tension levelling process. First, the optimum parameters of the steel to be used in the simulation programme are sought. The process consists of simulating controlled cyclical deformation tests on finite element (FE) models of standard steel test pieces with different laws of cyclical behaviour. Genetic algorithms are used to optimise the parameters of the simulation model so that the behaviour of the material is as close as possible to the results obtained in real experimental tests. This ensures that the behaviour of the material in the FE model is as realistic as possible. The model of behaviour of the material selected is used to design and check out a second tension levelling FE model. Based on this second model, the roll penetration, the lengthwise tension and the strip feedrate are adjusted. There is also optimisation with genetic algorithms so that the final residual tensions in the product are below a specified threshold and as even as possible. For a solution to be considered as valid, it must be confirmed that the steel plate is subject to the tensions envisaged at various process control points. From the best solutions found, the one with the fastest feedrate is selected so as to maximise output.     

Sex identification of archaeological human remains based on amplification of the X and Y amelogenin alleles

Sex identification of archaeological human remains is essential for the exploration of gender differences in past populations. Traditional morphometric analyses fail to identify the gender of incomplete skeletal remains and that of immature individuals. In the present work, we have established a sensitive and reliable method, based on amplification of the single-copy amelogenin-encoding gene (AMG). The Y allele carries a small deletion in the first intron, facilitating the design of distinct X- and Y-specific polymerase chain reactions. Amplification with three primers, two of which are allele-specific, allows unambiguous identification of both X and Y chromosome signals in a single reaction, providing an internal control. For added confidence, the reaction may be performed in separate tubes for each allele. Using this method, the sex was determined from the skeletal remains of 18 individuals, including young children, out of 22 examined from periods ranging from 200 to around 8000 years ago. The state of skeletal preservation ranged from poor to good. Cortical and cranial bones, as well as teeth, were found to provide sufficiently preserved DNA. The success of retrieval of amplifiable DNA was not related either to the period or to the burial site. On the other hand, the method of DNA purification was critical. In our hands, direct DNA purification by Chelex from minute samples of bone/tooth powder gave the best results. This study demonstrates the applicability of the method for gender determination in skeletal remains from different periods.     

Progress of the molecular genetic analysis for Alzheimer's disease

The pathogenesis of Alzheimer's disease (AD) remains unclear. We ascertained 57 Japanese families with early onset familial Alzheimer's disease (EOFAD; mean onset age < 65 years). Screening the known beta/A4 amyloid precursor protein (APP) mutations in familial AD by a simplified PCR product detection system disclosed only one EOFAD with the APP717Val-Ile mutation (AD1 locus). Four of 6 families showing a positive linkage to AD3 locus had four different mutations on the presenilin 1 gene. These mutations were Val 96 Phe, Ile223Thr, His163Arg and splicing mutation with an AG-AA substitution at the acceptor site of intron 9. The allele frequency of APOE-e4 of late-onset and early-onset AD was significantly higher than that of age-matched controls (p < 0.0001). These results suggest that APOE-e4 (AD2 locus) is a susceptibility gene for AD in the Japanese population, regardless of the age at onset. It is probable that the risk for AD in most subjects is likely to arise from the cumulative effects of environmental factors along with various genetic factors. Advances in molecular biology and molecular genetics have enabled us to more easily understand these genetic factors.     

The objective gradation of stenosing coronary artery processes by means of the quantification of pathologic-anatomical data and their relations. 2. Development and presentation of the model

In order to objectify the judgement of the coronary arteriosclerosis the influence values position x obstruction on the left side and on the right side as well as the mass of the heart are mathematically valued with the aim to achieve a good separation between the infarction group and the control group and an insignificant false coordination of test persons. The optimation carried out for this purpose must be brought into accordance by means of technically ascertained recognitions and necessary practicability concerning valuations which are to be proposed. According to the results obtained on 174 test persons an obstruction on the right side below 50% has a higher importance than on the left side. In the positions of the obstruction the proximal as well as the medium third of the right coronary arteries a higher valuation must be ascribed. Compared with this the trunk of the left coronary artery has a significance corresponding possibly to the proximal third of this vessel. A more insignificant importance than hitherto taken into consideration belongs to the medium third of the left coronary artery. The valuations proposed lead to a highly significant improvement of the separation ability in contrast to the comparable valuations. The false coordination of the test persons at the same time decreases to 11 in the group with infarctions and to 2 in the control group. This equals 10.1 or 4.5%, respectively. In the present number of patients the barriers of the ostium and the type of supply have no statistically ascertained influence on the separation ability.     

Evaluation of Biolog for identification of members of the family Micrococcaceae

The Biolog Identification System (Biolog, Inc., Hayward, Calif.) was challenged at two separate laboratories with 113 coded isolates, including 33 type strains of staphylococci, 5 strains of Micrococcus spp., and 1 strain of Stomatococcus mucilaginosus. Test parameters between the sites were controlled as much as possible. Discrepancies were arbitrated by using conventional biochemicals. Overall accuracies (correct to the species level) upon initial testing were 47.7 and 59.3%, respectively, at the two laboratories. After repeat testing of isolates generating "no identification" responses or errors, the overall accuracies increased to 69.0 and 74.3% at the two sites, respectively, revealing no significant difference in the final results at the two laboratories (78 of 113 versus 84 of 113; P > 0.05). Error rates were 7.1% at one site and 9.7% at the other. The Biolog is not yet accurate enough to serve as a primary method for identifying staphylococci.