The structure and migration patterns of the population of Uruguay through isonymy.

Surname distribution can be a useful tool for studying the genetic structure of a human population. In South America, the Uruguay population has traditionally been considered to be of European ancestry, despite its trihybrid origin, as proved through genetics. The aim of this study was to investigate the structure of the Uruguayan population, resulting from population movements and surname drift in the country. The distribution of the surnames of 2,501,774 people on the electoral register was studied in the nineteen departments of Uruguay. Multivariate approaches were used to estimate isonymic parameters. Isolation by Distance was measured by correlating isonymic and geographic distances. In the study sample, the most frequent surnames were consistently Spanish, reflecting the fact that the first immigration waves occurred before Uruguayan independence. Only a few surnames of Native origin were recorded. The effective surname number (α) for the entire country was 302, and the average for departments was 235.8 ± 19. Inbreeding estimates were lower in the south-west of the country and in the densely populated Montevideo area. Isonymic distances between departments were significantly correlated with linear geographic distance (p < 0.001) indicating continuously increasing surname distances up to 400 km. Surnames form clusters related to geographic regions affected by different historical processes. The isonymic structure of Uruguay shows a radiation towards the east and north, with short-range migration playing a major role, while the contribution of drift, considering the small variance of α, appears to be minor.

Surnames in Chile: a study of the population of Chile through isonymy.

In Chile, the Hispanic dual surname system is used. To describe the isonymic structure of this country, the distribution of 16,277,255 surnames of 8,178,209 persons was studied in the 15 regions, the 54 provinces, and the 346 communes of the nation. The number of different surnames found was 72,667. Effective surname number (Fisher's α) for the entire country was 309.0, the average for regions was 240.8 ± 17.6, for provinces 209.2 ± 8.9, and for communes 178.7 ± 4.7. These values display a variation of inbreeding between administrative levels in the Chilean population, which can be attributed to the 'Prefecture effect' of Nei and Imaizumi. Matrices of isonymic distances between units within administrative levels were tested for correlation with geographic distance. The correlations were highest for provinces (r = 0.630 ± 0.019 for Euclidean distance) and lowest for communes (r = 0.366 ± 0.009 for Lasker's). The geographical distribution of the first three-dimensions of the Euclidean distance matrix suggests that population diffusion may have taken place from the north of the country toward the center and south. The prevalence of European plus European-Amerindian (95.4%) over Amerindian ethnicity (4.6%, CIA World Factbook) is compatible with diffusion of Caucasian groups over a low-density area populated by indigenous groups. The significant excess of maternal over paternal indigenous surnames indicates some asymmetric mating between nonAmerindian and Amerindian Chileans. The available studies of Y-markers and mt-markers are in agreement with this asymmetry. In the present work, we investigate the Chilean population with the aim of detecting its structure through the study of isonymy (Crow and Mange,1965) in the three administrative levels of the nation, namely 15 regions, 54 provinces, and 346 communes.

Gender differences in ancestral contribution and admixture in Venezuelan populations.

The origin of the contribution of uniparental heritage were analyzed in 615 samples of individuals proceeding from 13 towns classified according to historic differences in their emergence and development as African-derived, European-derived, and admixed/urban. Mitochondrial and Y-chromosome haplogroups were identified by PCR-restriction fragment length polymorphism. The results were compared with previous estimates of admixture made with autosomal markers and with historic aspects. The results show a predominantly indigenous genetic contribution through the female, being more prevalent in urban populations; the African contribution, although dispersed, presents a larger concentration in the African-derived towns, whereas the European contribution is limited to populations with this origin, reflecting isolation and the conservation of the distribution pattern of genes of the Colonial era. With regard to admixture through males, it is almost exclusively of European origin, whereas the African contribution is basically concentrated in the African-derived towns, and the Amerindian lineages are almost nonexistent. The genome of paternal heredity, as opposed to the autosomal and the mitochondrial, shows a homogeneous pattern of admixture that is independent of the origin of the population studied, suggesting that European genes have been introduced into the Venezuelan population through male immigrations, whereas the indigenous contribution has been preserved in the Venezuelan genetic pool through the women. These results provide evidence of the heterogeneity in the genetic origin of the Venezuelan population, which should be taken into account in forensic and epidemiologic genetic studies.

Optimized time-resolved 3D contrast-enhanced MRA at 3T: appreciating the feasibility of assessing cervical paragangliomas.

OBJECTIVES: To describe an optimized 3D time-resolved contrast-enhanced MR angiography (3D TR-CE-MRA) at 3T in diagnosing head and neck paragangliomas and assessing their morphology and relation to neighboring vessels. METHODS: In a prospective study, eight consecutive patients presenting cranial cervical masses suspected to be 10 paragangliomas were examined with 3D TR-CE-MRA at 3T. Two neuroradiologists evaluated the overall image quality, the presence of a paraganglioma, the maximum diameter, as well as the vessel invasion. RESULTS: In all of the cases, the overall image quality was scored as good. The tumors (n=10) were all visualized and localized. The mean maximum diameter was 32.7mm [range 7-80]. Vessel invasion was assessed as uncertain in one case and improbable in nine cases. CONCLUSION: 3D TR-CE-MRA at 3T associated with conventional sequences facilitates a comprehensive investigation of paragangliomas, thus providing the anatomical and functional information.

[Acute aortic syndrome: CT imaging features]. / Comment j'explore une suspicion de syndrome aortique aigu au scanner.

Acute aortic syndromes include aortic dissection, intramural thrombus, and penetrating atherosclerotic aortic ulcer. These are potentially life-threatening abnormalities of the aorta requiring immediate evaluation by the cardio-thoracic surgery service. CT angiography is the most appropriate imaging modality in the acute setting to detect and diagnose the disease and assess its severity. Precontrast and postcontrast imaging should be obtained of the entire aorta from thorax to pelvis. After aortic rupture, the most severe complication is visceral ischemia from hypoperfusion. Dissections should be systematically searched for and may be amenable to endovascular treatment.

Surnames in Siberia: a study of the population of Yakutia through isonymy.

We studied the isonymic structure of the Republic of Sakha (Yakutia), in the Russian Federation, using the surname distributions of 491,259 citizens above 18 years registered as residents in 2002. These were distributed in 35 districts and 497 towns and settlements of the Republic. The number of different surnames was 44,625. Matrices of isonymic distances between the 35 districts were tested for correlation with the geographic distance between the population centers of gravity of the districts. We found that, for the whole of Yakutia, Nei's distance was correlated with geographic distance (r = 0.693 +/- 0.027). A dendrogram of the 35 districts was built from the distance matrix, using the UPGMA method. The clusters identified by the dendrogram correlate with the geographic position of the districts. The correlation of random inbreeding calculated from isonymy, F(ST), with latitude was positive and highly significant but weak (r = 0.23). So, inbreeding was highest in the Arctic districts, and lowest in the South. Average alpha for 497 towns was 107, for 35 districts it was 311, and for the Republic 433. The value of alpha was higher for Russian than for the local languages. The geographical distribution of alpha, high in the Center and South-East and lower in the North-West, is compatible with the settlement of groups of migrants moving from the South-East toward the center and the North of Yakutia. It is proposed that low-density demic diffusion of human populations results in high inbreeding and may have been a general phenomenon in the early phases of human radiations.

[Stent-graft treatment of the descending thoracic aorta in high risk patients]. / Traitement par stent grafts des pathologies de l'aorte thoracique descendante.

PURPOSE: To report our experience with endovascular stent-graft repair of descending thoracic aorta diseases in high risk patients. MATERIALS AND METHODS: Between 2000 and 2007, 49 high surgical risk patients (mean age: 64.6 years) underwent stent-graft placement, including 24 cases presenting acutely. Mean follow-up was 25.4 months. Etiologies included 15 aneurysms, 11 dissections, 10 penetrating ulcers, 9 false aneurysms, 2 ruptures of the aortic isthmus, 2 intramural hematomas. RESULTS: Access failure occurred in one patient. The overall mortality was 27.1% (n=13), nine related to the presenting pathology or treatment. Thirty-day mortality was 10.4% (n=5). Complications included vascular injury at the iliac or femoral artery access (10.2%), 1 case of flaccid paraplegia, 2 cases of transient paraparesis, 2 strokes, 2 stent migrations and 1 stent rupture. The rate of early endoleak was 39.6% while the rate of delayed endoleak was 14.6%. Seven patients (14.6%) required repeat endovascular interventions. Explantation was required in 2 cases. The latest available follow-up showed no lesion enlargement in 70.7% (n=29/41) of our patients. CONCLUSION: Descending thoracic aortic pathology can be treated using endografts in high risk patients, although significant morbidity and mortality remain. Because of the high rate of endoleaks, close follow-up is required.

Guidelines (short version) of the French Society of Otorhinolaryngology (SFORL) on cervical lymphatic malformation in adults and children: Diagnosis.

OBJECTIVES: The authors present the guidelines of the French Society of Otorhinolaryngology (SFORL) for the diagnosis of cervical lymphatic malformation in adults and children. METHODS: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work group, and finalized in a coordination meeting. Guidelines were graded A, B, C or expert opinion, by decreasing level of evidence. RESULTS: The SFORL recommends that complete ENT examination should be performed to identify lesions at high risk of complication or associated with poor prognosis. In case of diagnostic doubt, especially in latero-cervical or oral floor lesions, fine-needle aspiration cytology should be performed before therapeutic decision-making. One or more validated classifications should be used to assess treatment efficacy and monitor progression. The reliability of antenatal diagnosis should be ensured by associating MRI to ultrasound. In antenatal diagnosis, the locoregional extension of the cervical lymphatic malformation should be evaluated accurately for prognosis, and associated malformations should be screened for, to guide treatment options.

General preadaptation of viral infectors to their hosts.

We tested the hypothesis of optimal adaptation of viral infectors to eukaryotic hosts, using (1) correlation in codon and amino acid usage between organisms, and (2) canonical correlation between groups of hosts and infectors. The codon correlations between parasites and hosts vary, being low between swine and African swine fever virus (ASF; r = 0.18), and highest between potato and potato virus X (r = 0.60). The correlations might indicate different stages of evolution toward optimal adaptation of the parasite codon distribution to the host tRNA pools. The amino acid correlations vary from r = 0.71 between pig and ASF, to 0.88 between catfish and its herpesvirus. It was observed that both in virus and hosts, there is a negative correlation between frequency of an amino acid and molecular weight. Therefore, it was advanced that viral infectors might be preadapted to their hosts because of similarities of the tRNA pools of hosts, and that evolution toward optimization would be dependent on the size of the divergence between the codon distributions of infector and host. Preadaptation does not imply origin of the virus by lateral transfer from the present host, since the correlation of the molecular weight of amino acids with their abundance in proteins is a general phenomenon.

[Contribution of cardiac MRI in the etiologic diagnosis of chest pain syndrome with a normal angiographic aspect of the coronary arteries]. / Apport de l'IRM cardiaque dans le diagnostic étiologique des syndromes douloureux thoraciques à réseau coronaire angiographiquement normal.

The etiologic diagnosis of chest pain with elevation of specific cardiac enzymes, repolarization abnormalities and a normal angiographic aspect of the coronary arteries is difficult. In this situation, the role of cardiac MRI is growing, frequently allowing to precise the etiology of the chest pain. We present a literature review concerning the semiology of the cardiac MRI in the three main involved etiologies: myocarditis, takotsubo syndrome, and myocardial ischemia with a normal angiographic aspect of the coronary arteries.

[Contribution of the maximal exercise test to diagnosis the vascular origin of leg pain in athletes]. / Intérêt de l'épreuve d'effort maximal dans le diagnostic d'une origine artérielle des douleurs des membres inférieurs chez le sportif.

Leg pain is a common debilitating symptom in athletes. Vascular disease is not often proposed as a possible cause. Maximal exercise with measure of the ankle-brachial index after exercise can be an interesting diagnostic test. We report an illustrative case where an athlete presented leg pain revealing arterial disease disclosed by exercise. Interestingly, sub-maximal exercise did not cause pain, causing a delay in diagnosis. The vascular origin of leg pain can be detected with a maximal exercise test that induces the symptomatic pain or at least clinical discomfort.

Plasma fibrinogen level and the risk of major cardiovascular diseases and nonvascular mortality: an individual participant meta-analysis.

CONTEXT: Plasma fibrinogen levels may be associated with the risk of coronary heart disease (CHD) and stroke. OBJECTIVE: To assess the relationships of fibrinogen levels with risk of major vascular and with risk of nonvascular outcomes based on individual participant data. DATA SOURCES: Relevant studies were identified by computer-assisted searches, hand searches of reference lists, and personal communication with relevant investigators. STUDY SELECTION: All identified prospective studies were included with information available on baseline fibrinogen levels and details of subsequent major vascular morbidity and/or cause-specific mortality during at least 1 year of follow-up. Studies were excluded if they recruited participants on the basis of having had a previous history of cardiovascular disease; participants with known preexisting CHD or stroke were excluded. DATA EXTRACTION: Individual records were provided on each of 154,211 participants in 31 prospective studies. During 1.38 million person-years of follow-up, there were 6944 first nonfatal myocardial infarctions or stroke events and 13,210 deaths. Cause-specific mortality was generally available. Analyses involved proportional hazards modeling with adjustment for confounding by known cardiovascular risk factors and for regression dilution bias. DATA SYNTHESIS: Within each age group considered (40-59, 60-69, and > or =70 years), there was an approximately log-linear association with usual fibrinogen level for the risk of any CHD, any stroke, other vascular (eg, non-CHD, nonstroke) mortality, and nonvascular mortality. There was no evidence of a threshold within the range of usual fibrinogen level studied at any age. The age- and sex- adjusted hazard ratio per 1-g/L increase in usual fibrinogen level for CHD was 2.42 (95% confidence interval [CI], 2.24-2.60); stroke, 2.06 (95% CI, 1.83-2.33); other vascular mortality, 2.76 (95% CI, 2.28-3.35); and nonvascular mortality, 2.03 (95% CI, 1.90-2.18). The hazard ratios for CHD and stroke were reduced to about 1.8 after further adjustment for measured values of several established vascular risk factors. In a subset of 7011 participants with available C-reactive protein values, the findings for CHD were essentially unchanged following additional adjustment for C-reactive protein. The associations of fibrinogen level with CHD or stroke did not differ substantially according to sex, smoking, blood pressure, blood lipid levels, or several features of study design. CONCLUSIONS: In this large individual participant meta-analysis, moderately strong associations were found between usual plasma fibrinogen level and the risks of CHD, stroke, other vascular mortality, and nonvascular mortality in a wide range of circumstances in healthy middle-aged adults. Assessment of any causal relevance of elevated fibrinogen levels to disease requires additional research.

Extended HLA haplotypes in a Carib Amerindian population: the Yucpa of the Perija Range.

Eleven MHC loci haplotypes have been defined among a Carib speaking Amerindian population; the Yucpa, inhabiting the northern section of the Perija Range, on the limits between Colombia and Venezuela. This tribe has been known with the name of "Motilones mansos" and is located close to the Chibcha-Paeze speaking Bari or "Motilones bravos." Seventy-three full blooded Yucpa living at the villages of Aroy, Marewa, and Peraya, were selected using a genealogy previously collected by an anthropologist and tested for Bf-C4AB complement allotypes and by serology, high resolution PCR-SSO and SBT typing for HLA class 1 and class 2 alleles. Combinations of 6 HLA-A, 6 HLA-B, 5 HLA-C, 1 Bf, 3 C4AB, 3 DQA1, 3DQB1 and 2 DPA1 and 2 DPB1 alleles present in this population originate 17 different haplotypes, 3 of which represent 63% of the haplotypic constitution of the tribe. The presence of 13 individuals homozygous for 11-loci haplotypes corroborates the existence of the following allelic combinations: DRB1*0411 DQA1*03011 DQB1*0302 DPA1*01 DPB1*0402 with HLA-A*6801 C*0702 B*3909 BfS C4 32 (f = 0.3372) or with A*0204 C*0702 B*3905 (f = 0.1977) and a third haplotype which differs only in DRB1*0403 and A*2402 (f = 0.0930). The results demonstrate the isolation of the tribe and the existence of high frequencies of a reduced number of "Amerindian" ancestral and novel class 1 and class 2 alleles (B*1522, DRB1*0807) with significant linkage disequilibria. These results will be useful to test the hypothesis that differentiation of Amerindian tribal groups will have to rely on haplotypes and micropolymorphism rather than allelic lineage frequencies due to the uniformity shown thus far by the putative descendants of the original Paleo-Indians.

Contribution of cardiac MRI in the comprehension of peripartum cardiomyopathy pathogenesis.

Pathogenesis of peripartum cardiomyopathy (PPC) is still discussed. We report one case of PPC in which a cardiac magnetic resonance imaging analysis allowed to exclude some "classical" pathogenesis hypotheses. We would like to emphasize the benefits of cardiac MRI in the comprehension of the mechanism(s) involved in the genesis of PPC.

Codon and aminoacid usage patterns in mycobacteria.

The large number of organisms and of genes sequenced at the present time permits now to study molecular evolution in such lower clades as genera, species, and subspecies. Here, we focus our attention on the genus Mycobacterium, in which we examined codon and aminoacid usage in 13 species, and in 12 subspecies for a total of 8,836,513 codons from 26,755 sequences. Within the genus Mycobacterium, frequencies of codon and aminoacid usage correlate between species and between subspecies. In the groups studied, aminoacid molecular weight and codon degeneracy influence correlations between frequencies, while GC content is the main factor influencing the effective number of codons. The coding GC, which is highly correlated with total genomic GC content, seems to be the main factor influencing present synonymous codon usage in the genus. In particular, the GC content at the 3rd base position seems to shape heavily the effective number of codons, giving indication that here mutational bias dominates over translational selection. Evolutionary trees based on codon and aminoacid usage are consistent with traditional phylogenies of species within the genus.

Surnames in Texas: a population study through isonymy.

To study the isonymy structure of Texas, we analyzed the surname distributions of 3.6 million telephone users registered for the year 1996 in 232 towns distributed in the 7 regions of the state. The number of different surnames was 235,740. Matrices of isonymy distances between towns and between geographic regions were constructed and tested for correlation with geographic distance. We found that isonymy distances between the seven regions showed borderline or no correlation with geographic distance, with r = 0.089 +/- 0.232, r = 0.492 +/- 0.232, and r = 0.337 +/- 0.232 for Lasker's, Euclidean, and Nei's distances, respectively. Isonymy distances between towns were significantly correlated with geographic distance, with r = 0.249 +/- 0.006 for Lasker's distance, r = 0.338 +/- 0.006 for the Euclidean distance, and r = 0.418 +/- 0.006 for Nei's distance. Two dendrograms, one for the 7 regions and one for the 232 towns, were built from the matrices of Nei's distances. The dendrogram for regions indicates that a main surname differentiation exists between the East and West areas of Texas, with West Texas being predominantly Hispanic and East Texas being predominantly English-speaking. The dendrogram for the towns confirms in detail the differences identified by the matrix of distances between regions. Random inbreeding calculated from isonymy, F(ST), was highest in the west and in the south of the state. It was lowest in the area of Austin and Houston. Average Fisher's alpha for towns was 734, for regions it was 1,047, and for Texas as a whole it was 1,230. The geographic distribution of alpha in the state shows distinctly lower values in the traditionally Hispanic west and higher values in the east and on the Gulf of Mexico.

Isonymic structure of the Argentine Northwest.

Surname distribution may be used as a substitute for quantitative information on the genetic structure of human populations due to panmictic deviations. This study analysed the isonymic structure of the Argentine Northwest (ANW) populations. Surname distribution of 2,576,548 voters (year 2001) in the 117 departments of the region was analysed. Fisher's alpha and coefficient of random relationship by isonymy were estimated. A dendrogram of the 117 departments was constructed from the matrix of Euclidean distances. In general, alpha values found were lower than country averages, while kinship values were higher. Ten clusters were identified showing a spatial distribution closely related to geographic characteristics, means of communication, and location of economic activities of the region. The resulting pattern could be basically characterized by grouping the departments into two large clusters: (a) Those located in the centre of the region, which include the provincial capitals, presented greater diversity of surnames and a lower degree of kinship. (b) Those located in the regional periphery showed greater isolation and kinship. Isonymic parameters estimated agree with the demographic characteristics of populations, historical antecedents of population settlement and ANW geographic features.