ABSTRACT
In order to attain a finer reconstruction of the peopling of southern and central-eastern Europe from the Levant, we determined the frequencies of eight lineages internal to the Y chromosomal haplogroup J, defined by biallelic markers, in 22 population samples obtained with a fine-grained sampling scheme. Our results partially resolve a major multifurcation of lineages within the haplogroup. Analyses of molecular variance show that the area covered by haplogroup J dispersal is characterized by a significant degree of molecular radiation for unique event polymorphisms within the haplogroup, with a higher incidence of the most derived sub-haplogroups on the northern Mediterranean coast, from Turkey westward; here, J diversity is not simply a subset of that present in the area in which this haplogroup first originated. Dating estimates, based on simple tandem repeat loci (STR) diversity within each lineage, confirmed the presence of a major population structuring at the time of spread of haplogroup J in Europe and a punctuation in the peopling of this continent in the post-Neolithic, compatible with the expansion of the Greek world. We also present here, for the first time, a novel method for comparative dating of lineages, free of assumptions of STR mutation rates.
Subject(s)
Chromosomes, Human, Y , Haplotypes , Phylogeny , Africa, Northern , Emigration and Immigration , Europe , Genetic Variation , Humans , Male , Polymorphism, Genetic , Tandem Repeat SequencesABSTRACT
We explored the spatial distribution of human Y chromosomal diversity on a microgeographic scale, by typing 30 population samples from closely spaced locations in Italy and Greece for 9 haplogroups and their internal microsatellite variation. We confirm a significant difference in the composition of the Y chromosomal gene pools of the two countries. However, within each country, heterogeneity is not organized along the lines of clinal variation deduced from studies on larger spatial scales. Microsatellite data indicate that local increases of haplogroup frequencies can be often explained by a limited number of founders. We conclude that local founder or drift effects are the main determinants in shaping the microgeographic Y chromosomal diversity.
Subject(s)
Chromosomes, Human, Y/genetics , Founder Effect , Genetic Drift , Genetic Variation , Analysis of Variance , DNA Primers , Geography , Greece , Haplotypes/genetics , Humans , Italy , Male , Microsatellite Repeats/genetics , Polymorphism, Single Nucleotide , Population DynamicsABSTRACT
In this work we focus on a microsatellite-defined Y-chromosomal lineage (network 1.2) identified by us and reported in previous studies, whose geographic distribution and antiquity appear to be compatible with the Neolithic spread of farmers. Here, we set network 1.2 in the Y-chromosomal phylogenetic tree, date it with respect to other lineages associated with the same movements by other authors, examine its diversity by means of tri- and tetranucleotide loci and discuss the implications in reconstructing the spread of this group of chromosomes in the Mediterranean area. Our results define a tripartite phylogeny within HG 9 (Rosser et al. 2000), with the deepest branching defined by alleles T (Haplogroup Eu10) or G (Haplogroup Eu9) at M172 (Semino et al. 2000), and a subsequent branching within Eu9 defined by network 1.2. Population distributions of HG 9 and network 1.2 show that their occurrence in the surveyed area is not due to the spread of people from a single parental population but, rather, to a process punctuated by at least two phases. Our data identify the wide area of the Balkans, Aegean and Anatolia as the possible homeland harbouring the largest variation within network 1.2. The use of recently proposed tests based on the stepwise mutation model suggests that its spread was associated to a population expansion, with a high rate of male gene flow in the Turkish-Greek area.
Subject(s)
Phylogeny , Y Chromosome/genetics , Alleles , Asia, Western , Egypt , Europe , Founder Effect , Gene Frequency , Genetic Variation/genetics , Humans , Male , Mediterranean Region , Microsatellite Repeats/geneticsABSTRACT
Right ventricular cardiomyopathy dysplasia, now a well-established clinical and morphologic entity, was first reported in the medical literature in 1982. The cases of sudden death of two young men are here reported, with macroscopic and histologic findings. The anatomical explanation of such death was a fibrotic, lipomatous, or fibrolipomatous replacement and infiltration of the myocardium of the right ventricle. It is suggested that death due to right ventricular cardiomyopathy seems to be the result of electrical instability of right ventricular myocardium. There were no congenital malformations such as septal defect or valvular deformity. The subjects' heart weights were normal. Signs of myocardial degeneration and necrosis with or without inflammatory infiltrates were not identified.
Subject(s)
Arrhythmogenic Right Ventricular Dysplasia/pathology , Adult , Autopsy , Death, Sudden, Cardiac , Forensic Medicine , Humans , MaleABSTRACT
The aim of this study was to estimate the penetration of some of the pesticides and toxicant substances in the human reproductive system. This knowledge is valuable because of the possible adverse influence of these substances on the human reproduction system and the development of the foetus during pregnancy. The existing data is mainly concerned with the results of experimental studies on animals or epidemiological studies. Here we report data concerning the disposition of several toxic xenobiotics (pesticides and solvents) in the tissues of the human reproductive system as well as in other organs and glands. Data was collected from cases of acute poisonings and derived mostly from autopsy materials. Xenobiotics were found to penetrate sampled tissues such as the testes, ovaries, epididymis, uterus, thyroid gland, as well as other human tissues. Further studies will clarify and confirm peculiarities of the penetration of a wide range of substances in various body tissues and will be the base of the estimation of the role of these toxicants in human reproductive ability and the outcome of pregnancy in humans.
Subject(s)
Genitalia, Female/metabolism , Genitalia, Male/metabolism , Pesticides/metabolism , Poisoning/metabolism , Xenobiotics/metabolism , Acute Disease , Female , Herbicides/metabolism , Herbicides/poisoning , Humans , Male , Paraquat/metabolism , Paraquat/poisoning , Tissue DistributionABSTRACT
Fatal and non-fatal acute poisonings and other sudden deaths examined in the Toxicology Laboratory of University Hospital of Iraklion, Crete, from 1991 to 1996 mainly involved the abuse of drugs (heroin, flunitrazepam and other psychoactive substances), accidental poisonings or suicide attempts with pesticides (carbamates, organophosphates, paraquat), other chemicals (cyanide salts, paint thinner, chlorine), traffic accidents, drownings and violent deaths (gunshots). Many of the cases were related to poisonous gases or volatiles (carbon monoxide, methylbromide). Fatalities due to alcohol and methylene-dioxy-ethyl amphetamine were also examined. Amphetamine and alcohol-related deaths due to drowning were more recent. A significant number of cases were related to the accidental ingestion of alcohol, drugs or suicide attempts by children. Some of the cases were treated successfully in various Cretan hospitals, while others had fatal outcomes due to late hospital admission.
Subject(s)
Death, Sudden/epidemiology , Poisoning/epidemiology , Acute Disease , Greece/epidemiology , Hazardous Substances/poisoning , Hospitals, University , Humans , Substance-Related DisordersABSTRACT
Concussion of the heart (commotio cordis) occurs in traffic accidents in which blunt force impact over the precordial area occurs, even in the absence of multiple blunt force injuries. The functional dynamics of the heart, with ventricular arrythmias and conduction disturbances, serve as the pathophysiological basis of this condition. As a cause of death in vehicular accidents, it is less common than other causes. However, it should be considered in the differential diagnosis, especially in cases with minor or no apparent injuries.
Subject(s)
Accidents, Traffic , Contusions/etiology , Death, Sudden, Cardiac/etiology , Heart Injuries/etiology , Wounds, Nonpenetrating/complications , Adult , Contusions/diagnosis , Fatal Outcome , Heart Injuries/diagnosis , Humans , Male , Wounds, Nonpenetrating/diagnosisABSTRACT
In Crete, in southern Greece, a number of fatal carbamate poisonings were investigated over a period of 2 years, from 1991 to 1993. Five cases are reported, involving the fatal ingestion of methomyl (Lannate), a cholinesterase-inhibiting carbamate insecticide. Analysis of samples of blood plasma and serum showed more than 90% inhibition of cholinesterase. The blood methomyl concentrations had a mean value of 26.7 mg/l, and a range of 5.6-57.0 mg/l. These values are much higher than those previously reporter in similar cases (0.57-1.4 mg/l). Methomyl concentrations in organs and tissues were found to be significantly lower than those in blood and vitreous humour.
Subject(s)
Cholinesterase Inhibitors/poisoning , Forensic Medicine , Insecticides/poisoning , Methomyl/poisoning , Adult , Autopsy , Cholinesterase Inhibitors/metabolism , Female , Greece , Humans , Insecticides/metabolism , Male , Methomyl/metabolism , Middle Aged , Poisoning/metabolism , Poisoning/mortality , Time FactorsABSTRACT
Extraction procedures and analytical methods are described for the quantitation of methomyl, a carbamate insecticide, in autopsy tissue and fluid samples. The analytical results from case work demonstrate the rapid metabolism of methomyl in the body.
