A finely resolved phylogeny of Y chromosome Hg J illuminates the processes of Phoenician and Greek colonizations in the Mediterranean.

In order to improve the phylogeography of the male-specific genetic traces of Greek and Phoenician colonizations on the Northern coasts of the Mediterranean, we performed a geographically structured sampling of seven subclades of haplogroup J in Turkey, Greece and Italy. We resequenced 4.4 Mb of Y-chromosome in 58 subjects, obtaining 1079 high quality variants. We did not find a preferential coalescence of Turkish samples to ancestral nodes, contradicting the simplistic idea of a dispersal and radiation of Hg J as a whole from the Middle East. Upon calibration with an ancient Hg J chromosome, we confirmed that signs of Holocenic Hg J radiations are subtle and date mainly to the Bronze Age. We pinpointed seven variants which could potentially unveil star clusters of sequences, indicative of local expansions. By directly genotyping these variants in Hg J carriers and complementing with published resequenced chromosomes (893 subjects), we provide strong temporal and distributional evidence for markers of the Greek settlement of Magna Graecia (J2a-L397) and Phoenician migrations (rs760148062). Our work generated a minimal but robust list of evolutionarily stable markers to elucidate the demographic dynamics and spatial domains of male-mediated movements across and around the Mediterranean, in the last 6,000 years.

Enlarging the gene-geography of Europe and the Mediterranean area to STR loci of common forensic use: longitudinal and latitudinal frequency gradients.

BACKGROUND: Tetranucleotide Short Tandem Repeats (STRs) for human identification and common use in forensic cases have recently been used to address the population genetics of the North-Eastern Mediterranean area. However, to gain confidence in the inferences made using STRs, this kind of analysis should be challenged with changes in three main aspects of the data, i.e. the sizes of the samples, their distance across space and the genetic background from which they are drawn. AIM: To test the resilience of the gradients previously detected in the North-Eastern Mediterranean to the enlargement of the surveyed area and population set, using revised data. SUBJECTS AND METHODS: STR genotype profiles were obtained from a publicly available database (PopAffilietor databank) and a dataset was assembled including >7000 subjects from the Arabian Peninsula to Scandinavia, genotyped at eight loci. Spatial principal component analysis (sPCA) was applied and the frequency maps of the nine alleles which contributed most strongly to sPC1 were examined in detail. RESULTS: By far the greatest part of diversity was summarised by a single spatial principal component (sPC1), oriented along a SouthEast-to-NorthWest axis. The alleles with the top 5% squared loadings were TH01(9.3), D19S433(14), TH01(6), D19S433(15.2), FGA(20), FGA(24), D3S1358(14), FGA(21) and D2S1338(19). These results confirm a clinal pattern over the whole range for at least four loci (TH01, D19S433, FGA, D3S1358). CONCLUSIONS: Four of the eight STR loci (or even alleles) considered here can reproducibly capture continental arrangements of diversity. This would, in principle, allow for the exploitation of forensic data to clarify important aspects in the formation of local gene pools.

Spatially Explicit Models to Investigate Geographic Patterns in the Distribution of Forensic STRs: Application to the North-Eastern Mediterranean.

Human forensic STRs used for individual identification have been reported to have little power for inter-population analyses. Several methods have been developed which incorporate information on the spatial distribution of individuals to arrive at a description of the arrangement of diversity. We genotyped at 16 forensic STRs a large population sample obtained from many locations in Italy, Greece and Turkey, i.e. three countries crucial to the understanding of discontinuities at the European/Asian junction and the genetic legacy of ancient migrations, but seldom represented together in previous studies. Using spatial PCA on the full dataset, we detected patterns of population affinities in the area. Additionally, we devised objective criteria to reduce the overall complexity into reduced datasets. Independent spatially explicit methods applied to these latter datasets converged in showing that the extraction of information on long- to medium-range geographical trends and structuring from the overall diversity is possible. All analyses returned the picture of a background clinal variation, with regional discontinuities captured by each of the reduced datasets. Several aspects of our results are confirmed on external STR datasets and replicate those of genome-wide SNP typings. High levels of gene flow were inferred within the main continental areas by coalescent simulations. These results are promising from a microevolutionary perspective, in view of the fast pace at which forensic data are being accumulated for many locales. It is foreseeable that this will allow the exploitation of an invaluable genotypic resource, assembled for other (forensic) purposes, to clarify important aspects in the formation of local gene pools.

Do men have rights in abortion? The Greek view.

AIM: We have examined from a legal perspective the father's role in the decision to abort a pregnancy in western society. Furthermore, we have taken a closer look into the inadequacies the Greek legal framework on this issue, from a legal and social point of view. METHODS: Literature in the Greek and English language. RESULTS: One of abortion's many victims is the father of the child. In most European countries and the United States of America, the law does not give any rights to the father on the issue of an abortion. Quite simply, men have no legal rights when it comes to abortion. Legally, an abortion is a private matter between a woman and her doctor, even if she is married. Greece was one of the last countries in Europe to legalize abortion after a long debate in Parliament and the publication of numerous declarations by women's rights organizations. However, despite the liberalization of abortion, which followed the ratification of L 1609/86, the legal framework in which abortions are carried out is not entirely satisfactory. One of the areas that require clarification is the role of father. L 1609/86 does not specify men's rights in abortion. Post-abortion counseling services are dealing with an increasing number of men coming forward, grieving their aborted children. CONCLUSION: A more careful approach is required and a possible review of the law on abortion may be useful. Counselling for women and their male partners should be offered by state organisations. Clarity of thinking, sympathy and understanding are prerequisites in order for a solution respecting the personality of both the woman and her male partner to be reached.

Multiple advantageous amino acid variants in the NAT2 gene in human populations.

BACKGROUND: Genetic variation at NAT2 has been long recognized as the cause of differential ability to metabolize a wide variety of drugs of therapeutic use. Here, we explore the pattern of genetic variation in 12 human populations that significantly extend the geographic range and resolution of previous surveys, to test the hypothesis that different dietary regimens and lifestyles may explain inter-population differences in NAT2 variation. METHODOLOGY/PRINCIPAL FINDINGS: The entire coding region was resequenced in 98 subjects and six polymorphic positions were genotyped in 150 additional subjects. A single previously undescribed variant was found (34T>C; 12Y>H). Several aspects of the data do not fit the expectations of a neutral model, as assessed by coalescent simulations. Tajima's D is positive in all populations, indicating an excess of intermediate alleles. The level of between-population differentiation is low, and is mainly accounted for by the proportion of fast vs. slow acetylators. However, haplotype frequencies significantly differ across groups of populations with different subsistence. CONCLUSIONS/SIGNIFICANCE: Data on the structure of haplotypes and their frequencies are compatible with a model in which slow-causing variants were present in widely dispersed populations before major shifts to pastoralism and/or agriculture. In this model, slow-causing mutations gained a selective advantage in populations shifting from hunting-gathering to pastoralism/agriculture. We suggest the diminished dietary availability of folates resulting from the nutritional shift, as the possible cause of the fitness increase associated to haplotypes carrying mutations that reduce enzymatic activity.

The impact of the Daubert case on modern litigation.

Numerous product liability and toxic tort verdicts were arguably unjustly made on the basis of "junk science" threatening not only justice but the workings of the American economy. This problem was expected to be solved with the application of Daubert criteria, which require the courts to determine whether an expert's testimony reflects scientific knowledge, whether his/her findings are derived by the scientific method, and whether the work product is based on good science. Moreover, the Daubert criteria were expected to have an extraordinary impact on criminal litigation because there is rarely a criminal trial that does not rely on some form of expert testimony. However, there has been some debate on how such standards should be applied to cases involving relatively new product technologies, which only recently have been approved for a specific use, when an incident occurs and for which no published articles or other peer review summaries exist. Additionally, because most violent crimes are committed by the poor and their court appointed advocates, who are overworked and under-financed, are not up to the challenge. Therefore, with the Daubert standards for the admissibility of scientific evidence in the courts alone no significant improvement is expected. The presence of a system of effective representation in criminal cases along with efforts to educate judges and courts to understand ranges of scientific evidence and to recognise the reasonableness of scientific disagreements in civil and criminal cases are of paramount importance.

Associations between coronary heart disease, obesity and histological prostate cancer.

OBJECTIVE: The present study investigates the possible associations between coronary heart disease and histological prostate carcinoma in autopsy material. MATERIAL AND METHOD: The material of our study, were 116 men between 55 years and 98 years of age, who died in the period of August 2002-January 2005. The initial segment of the aorta and the prostate glands of all cadavers were removed while the initial 30 mm of the left and right coronary arteries and the peripheral zone of the prostate gland underwent pathologic examination. RESULTS: Of all subjects examined 71.8% had pathological findings suggesting advanced coronary heart disease. Twenty out of 116 cadavers were found with histological carcinoma in their prostate specimen. Among subjects positive for prostate cancer, 12 had died of cardiovascular diseases, while 16 had macroscopic evidence of advanced coronary artery obstructive disease, a finding that was confirmed on pathologic examination. Although most of the subjects had atheromatous lesions on the coronary arteries, the percentage of men with prostate cancer, which had advanced atheromatosis, was greater when compared to those of subjects without prostate cancer. The relation between the coronary artery obstructive disease severity and the presence of latent prostate cancer was statistically significant (P = 0.02). No statistically significant correlation was obtained between body mass index and the presence of prostate cancer. CONCLUSIONS: Our results indicate that there could be an association between coronary artery obstructive disease and prostate cancer, however due to the relatively low sample further studies are needed in order to confirm such findings.

Consent for organ and tissue retention in British law in the light of the Human Tissue Act 2004.

The experience from the scandals in hospitals at Liverpool and Bristol in the UK where retention of tissue and organs was undertaken without the consent of the parents and relatives raised serious concerns regarding the efficacy of the existing Human Tissue Act 1961, in England and the operation of the law by medical practitioners. In the aftermath of these damaging scandals a combination of public distrust and government overreaction has led to the enactment of new legislation, the Human Tissue Act 2004, which is aiming to prevent any further instances of the retention of organs and tissue from dead children or adults without their next of kin's consent or knowledge. However, scientists have expressed concerns that such changes might seriously endanger several medical research programmes, and also tissue and organ donation for transplantation. The aim of this article is to highlight important issues raised by existing practice in the post-mortem examinations in the UK and the lessons learnt from this and to discuss the benefits and the potential problems arising from the new Act.

Screening mammography, public perceptions, and medical liability.

PURPOSE: To outline the most common sources of raising malpractice claims in screening mammography and to discuss the related medical litigation issues in the light of the evidence-based medicine. METHODS AND MATERIAL: Electronic and manual search of the relevant literature. RESULTS: The most common cause of malpractice is the delayed diagnosis of breast cancer. The plaintiff must establish that the radiologist was negligent and the delay in diagnosis caused injury to the patient. Literature shows that mammography does not always detect breast cancer, and even skilled radiologists may periodically miss malignant lesions. Also, delay in diagnosis does not always affect treatment and prognosis. Over-promotion of screening mammography has made disproportionately difficult for a defendant radiologist to prevail in a malpractice lawsuit. Thus, screening mammography is at stake, although it saves lives. The public and legal system should be educated about biological processes, medical practice, and the limitations of screening mammography. CONCLUSION: If mammography is to survive medical litigation and continue to save lives a major reform in public perception, in the stance of the mass media, and in the ability of legal system to understand medicine is required. Physicians and medical associations have an important role to play.

Moral arguments on the use of ovarian tissue from aborted foetuses in infertility treatment.

The possibility of using eggs from an aborted foetus in IVF treatment has recently arisen after researchers presented work in which they managed to keep alive in the laboratory ovarian tissue taken from second and third trimester aborted foetuses for several weeks. Several ethical concerns and arguments have been raised. Some of them are general anti-abortion arguments while others relate to the use of eggs or ovarian tissue of aborted female foetuses in infertility treatment. In this article we will argue that most of the arguments for prohibiting the use of ovarian tissue from aborted foetuses in fertility treatment are not sufficient to provide ethical grounds for banning such a practice.

Physicians' liability in obstetric and gynecology practice.

PURPOSE: Litigation in obstetric and gynecologic practice has arisen as an important issue. This article aims to highlight issues related to malpractice in obstetrics and gynecology in order to point out several important aspects of medical practice, which may offer adequate professional protection. METHODS AND MATERIAL: Search of the current relevant literature. RESULTS: The four most common clinical causes of medical litigation in obstetrics and gynecology are cases involving fetal distress, uterine rupture after a vaginal birth in a woman with a previous Cesarean section, shoulder dystocia, and misdiagnosis of breast cancer. Litigation raised in most of the cases is driven by bad outcomes and not by malpractice. Additionally, both juries and the public often expect perfection as the natural result of pregnancy and any deviation from this expectation has to be the result of someone's negligence. For this reason it has become mandatory for doctors in hospitals and private practices to acquire a sufficient knowledge relating to modem management, to document carefully in writing their procedural and management plans and to become familiar with the legal aspects of medical practice. Adequate communication and a written patient's consent form are of paramount importance. CONCLUSION: Maintenance of high standards in daily practice with continuous training, clear communication and a signed Patient's Informed Consent Form along with the appropriate documentation of any procedure carried out may provide professional safety to practicing obstetricians and gynecologists in case of medical litigation.

Confidentiality governing surgical research practice.

Healthy subjects or patients volunteering to participate in trials expect that their privacy and autonomy will be protected. The aim of this article is to highlight issues related to confidentiality governing surgical research practice. A search of the current relevant literature was undertaken. Consent to the disclosure of any information should be sought wherever practicable, but disclosures should be kept to the minimum necessary. The data should be made anonymous where unidentifiable data serve the purpose. Where the previously described actions are not practicable for various reasons, data may be disclosed for research, provided participants have been given information about access to their records and about their right to object. Personal information may only be disclosed without individual's consent when it is for the protection of the public interest, but this has proved too ambiguous a rubric to be useful without proper clarification. Hampering of noncommercial medical research should also be avoided, as it may cause serious damage to public health. Confidentiality in research is an important issue in the protection of the participants' rights to privacy and autonomy, and it should be considered in the design of each study. Breach of confidentiality is legally justifiable for the sake of the public interest, but proper clarification of the law is required in order to avoid hampering noncommercial medical research that is vital for the public health.

Adolescence and abortion in Greece: women's profile and perceptions.

PURPOSE: To investigate the individual and social profile of the adolescents seeking abortion in Greece. PROCEDURES: Questionnaires were distributed from the obstetricians practicing in the capital and two major cities in Greece to adolescent pregnant women who were seeking for abortion and collected anonymously. MAIN FINDINGS: From 150 consecutive pregnant adolescents, 38 refused to participate and from 112 who accepted to participate only 74 (66%) replied. Most of the respondents lived in a city (65%), were unmarried (73%), 62% had sex first time after the age of 15, and the educational status of their parents was rarely at higher degree (father: 20%, mother: 16%). Among them, 74% declared that they had received information on contraception (64% from friends, 47% from doctors, 36% from the media). Overall, withdrawal (49%) and male condom (28.5%) were the popular contraceptive precautions. Abortion was adolescents' decision in 65%, while the partner's influence in the case of a shared decision was as high as 73%. Most adolescents (91%) knew about the potential risks of abortion mainly by their doctor (87%) and socio-economical reasons (89%) were mostly claimed. Their parents were rarely aware about their pregnancy (28%) and decision for abortion (28%). In most cases it was the first abortion (78%) and adolescents declared that were aware about the Greek Church's opposition (89%) and the existence of an abortion law (86%). PRINCIPAL CONCLUSION: In Greece, the poor education on the issue of contraception still remains a major problem among teenagers contributing to the increased prevalence of undesired pregnancies and abortions.

Medical litigation in cosmetic plastic surgery.

AIM: This article aims to highlight issues related to malpractice in plastic surgery and to point out the importance of good understanding of the law and the value of a patient's written informed consent as measures of professional protection. METHODS AND MATERIAL: Search of relevant literature from PubMed. RESULTS: The demand for cosmetic plastic surgery increases despite the increasing cost, in contrast to other traditional goods for which demand typically declines as price increases. Cosmetic plastic surgery has moved beyond the stage of being an exclusive privilege of the rich and famous. Nevertheless, cosmetic plastic surgery is one of the medical specialties exposed to a substantially high risk of malpractice claims. Most malpractice claims in cosmetic plastic surgery are not consequences of technical faults but because of inadequate patient selection criteria and lack of adequate communication between patient and surgeon. Proven efficient training, careful utilization of computer imaging techniques in association with the adoption of simple precautions and guidelines and adequate communication along with a completed patient's consent form are important essentials in case of medical litigation. CONCLUSIONS: In today's litigious society, maintenance of high standards in daily practice with continuous training and appropriate documentation of every procedure are all a sufficient defense of the plastic surgeon in case of medical litigation. Written patient's informed consent remains an integral part of the communication between physicians and patients, and importantly is facilitating professional protection.

Bioethics as a scientific enterprise.

The authors of this article attempt to look at the manner in which the field of bioethics has emerged to represent an entirely new science. The article does this by first looking at various developments in the field of medicine and science. Specifically, the authors point to the developments in pharmacology, biology, and in genetics, as the stimuli for the field of bioethics. Since these three fields of study directly deal with human beings and their respective environment, new developments in these respective areas of science have questioned what society has traditionally held concerning these two concepts. In an effort to help answer such questions, the field of bioethics has emerged. The authors argue that bioethics represents more than just a theoretical field. Instead, bioethics, as an entirely new science in itself, has the ability to provide answers to the question, and moral dilemmas that new developments in other sciences raise. The article attempts to show that science/medicine has direct links to proper therapy and procedures. The authors do this by making a direct connection between ethics and medicine, as Hippocrates understood. For Hippocrates, medicine and science should be distinguished from religion, but not from proper ethos. Therefore, the authors argue that the field of bioethics has gained its status as a scientific enterprise since it provides the ability for scientists and physicians to conduct their work in an ethos that aims to protect the human person.

Bioethics and the determination of personhood.

In today's technological world, humanity continuously surpasses the limits set by previous achievements. Although evidence of such progress exists in several fields of study, one clearly sees this in the medical and biotechnological fields. Despite the countless opportunities for longer, more productive lives, medicine and science have regressed in their conception of the human person. In an effort to overcome any moral and legal ramifications that research and medical practices entail, physicians and researchers have come to reduce personhood to only a matter of biological qualities and functioning. This essay attempts to show, first of all, the classical Christian understanding of the person, currently held by the Orthodox Church. It then looks at three fields of bioethical discussion; namely, abortion, brain death, and human embryonic cloning, and shows how each issue reduces the human person to his or her biological components. The essay concludes by suggesting a return to an understanding of personhood based on personal and communal levels of relationships.

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia.

It has been often stated that the overall pattern of human maternal lineages in Europe is largely uniform. Yet this uniformity may also result from an insufficient depth and width of the phylogenetic analysis, in particular of the predominant western Eurasian haplogroup (Hg) H that comprises nearly a half of the European mitochondrial DNA (mtDNA) pool. Making use of the coding sequence information from 267 mtDNA Hg H sequences, we have analyzed 830 mtDNA genomes, from 11 European, Near and Middle Eastern, Central Asian, and Altaian populations. In addition to the seven previously specified subhaplogroups, we define fifteen novel subclades of Hg H present in the extant human populations of western Eurasia. The refinement of the phylogenetic resolution has allowed us to resolve a large number of homoplasies in phylogenetic trees of Hg H based on the first hypervariable segment (HVS-I) of mtDNA. As many as 50 out of 125 polymorphic positions in HVS-I were found to be mutated in more than one subcluster of Hg H. The phylogeographic analysis revealed that sub-Hgs H1*, H1b, H1f, H2a, H3, H6a, H6b, and H8 demonstrate distinct phylogeographic patterns. The monophyletic subhaplogroups of Hg H provide means for further progress in the understanding of the (pre)historic movements of women in Eurasia and for the understanding of the present-day genetic diversity of western Eurasians in general.

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes.

The Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the "Saami motif" variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the "Saami motif," was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found.

Origin and diffusion of mtDNA haplogroup X.

A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as "X1" and "X2." The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East.