Yolanda Casalod

Aggression Towards Health Care Workers in Spain: A Multi-facility Study to Evaluate the Distribution of Growing Violence Among Professionals, Health Facilities and Departments

Abstract In recent years instances of aggression by patients towards health workers appear to have become more frequent. In Spain, no scientific studies appears to have been performed so far on this question. We analyzed questionnaires on workplace aggression from a stratified sample of 1826 health professionals at 3 hospitals and 22 rural and urban Primary Care facilities located in the Northeast and East of Spain. We found 11% of health workers had been a victim of physical aggression, 5% on more than one occasion, while 64% had been exposed to threatening behaviour, intimidation or insults. About 34% had suffered threats and intimidation on at least one occasion, and 23.8% repeatedly. Over 35% had been subjected to insults on at least one occasion, and 24.3% repeatedly. In general the incidence was higher in large hospitals, with very high levels in services such as Accident and Emergency and Psychiatry.

Reconstructing the population history of Nicaragua by means of mtDNA, Y‐chromosome STRs, and autosomal STR markers

Before the arrival of the Spaniards in Nicaragua, diverse Native American groups inhabited the territory. In colonial times, Native Nicaraguan populations interacted with Europeans and slaves from Africa. To ascertain the extent of this genetic admixture and provide genetic evidence about the origin of the Nicaraguan ancestors, we analyzed the mitochondrial control region (HVSI and HVSII), 17 Y chromosome STRs, and 15 autosomal STRs in 165 Mestizo individuals from Nicaragua. To carry out interpopulation comparisons, HVSI sequences from 29 American populations were compiled from the literature. The results reveal a close relationship between Oto-manguean, Uto-Aztecan, Mayan groups from Mexico, and a Chibchan group to Nicaraguan lineages. The Native American contribution to present-day Nicaraguan Mestizos accounts for most of the maternal lineages, whereas the majority of Nicaraguan Y chromosome haplogroups can be traced back to a West Eurasian origin. Pairwise Fst distances based on Y-STRs between Nicaragua and European, African and Native American populations show that Nicaragua is much closer to Europeans than the other populations. Additionally, admixture proportions based on autosomal STRs indicate a predominantly Spanish contribution. Our study reveals that the Nicaraguan Mestizo population harbors a high proportion of European male and Native American female substrate. Finally, the amount of African ancestry is also interesting, probably because of the contribution of Spanish conquerors with North African genetic traces or that of West African slaves.

Association between ancient bone preservation and dna yield: A multidisciplinary approach

Ancient molecular typing depends on DNA survival in archaeological bones. Finding valuable tools to predict DNA presence in ancient samples, which can be measured prior to undertaking a genetic study, has become an important issue as a consequence of the peculiarities of archaeological samples. Since the survival of DNA is explained by complex interrelations of multiple variables, the aim of the present study was to analyze morphological, structural, chemical, and biological aspects of a set of medieval human bones, to provide an accurate reflection of the state of preservation of the bony components and to relate it with DNA presence. Archaeological bones that yielded amplifiable DNA presented high collagen content (generally more than 12%), low racemization values of aspartic acid (lesser than 0.08), leucine and glutamic acid, low infrared splitting factor, small size of crystallite, and more compact appearance of bone in the scanning electron micrographs. Whether these patterns are characteristic of ancient bones or specific of each burial site or specimen requires further investigation.

Mitochondrial diversity in Amerindian Kichwa and Mestizo populations from Ecuador

This study presents mitochondrial DNA (mtDNA) data from 107 unrelated individuals from two of the major ethnic groups in Ecuador: Amerindian Kichwas (n = 65) and Mestizos (n = 42). We characterized the diversity of the matrilineal lineages of these Ecuadorian groups by analyzing the entire mtDNA control region. Different patterns of diversity were observed in the two groups as result of the unique historical and demographic events which have occurred in each population. Higher genetic diversity values were obtained for the Mestizo group than for the Amerindian group. Interestingly, only Native American lineages were detected in the two population samples, but with differences in the haplogroup distribution: Kichwa (A, 49%; B, 3%; C, 8%; and D, 40%) and Mestizo (A, 33%; B, 33%; C, 10%; and D, 24%). Analysis of the complete mtDNA control region proved to be useful to increase the discrimination power between individuals who showed common haplotypes in HVSI and HVSII segments; and added valuable information to the phylogenetic interpretation of mtDNA haplotypes.

Nuclear DNA typing from ancient teeth.

AbstractBecause of the adverse effects that diagenesis exert on ancient skeletal remains, DNA from these samples is often compromised to the point where genetic typing can be challenging. Nevertheless, robust and reliable methods are currently available to allow successful genotyping of ancient specimens. Here we report nuclear DNA–based methods and typing strategies used to analyze 2 human skeletons from a medieval burial. Reliable DNA nuclear profiles were obtained from teeth, whereas mitochondrial DNA analyses in bones were inconclusive. A complete nuclear mini short tandem repeat profile was obtained from a well-preserved premolar, but only a partial one from the femur. Increasing the sensitivity of the polymerase chain reaction system allowed a full profile from the latter, but the presence of artifacts reinforced the idea that the interpretation of this kind of analysis must be performed with caution. The results presented here also indicate that DNA from dental pieces can be better preserved than from bones, even in the case of well-preserved long bones with thick cortical tissue such as the femurs, and have a better chance of successful genetic typing, probably because of the high degree of protection conferred to the DNA by the enamel.

Distribution of types for six PCR-based loci; LDLR, GYPA, HBGG, D7S8, GC and HLA-DQA1 in central Pyrenees and Teruel (Spain).

The PCR-based DNA loci LDLR, GYPA, HBGG, D7S8, GC and HLA DQA1 are widely used in forensic casework analyses. Population data on the distribution of allele frequencies are desired to estimate the rarity of a DNA profile. We studied the allele distributions at these forensically important DNA markers in two Spanish populations (Central Pyrenees and Teruel). Results were in agreement with Hardy-Weinberg expectations. Furthermore, there was little evidence for departures from expectation of independence between loci within the two sample populations. Tests for homogeneity were carried out between the two Spanish populations and a U.S. Caucasian population.

Genetic analysis of 7 medieval skeletons from the Aragonese Pyrenees.

Aim To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees. Methods Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y chromosome single nucleotide polymorphisms (Y-SNP) markers, respectively. Possible familial relationships were also investigated. Results Complete or partial STR profiles were obtained in 3 of the 7 samples. Mitochondrial DNA haplogroup was determined in 6 samples, with 5 of them corresponding to the haplogroup H and 1 to the haplogroup U5a. Y-chromosome haplogroup was determined in 2 samples, corresponding to the haplogroup R. In one of them, the sub-branch R1b1b2 was determined. mtDNA sequences indicated that some of the individuals could be maternally related, while STR profiles indicated no direct family relationships. Conclusions Despite the antiquity of the samples and great difficulty that genetic analyses entail, the combined use of autosomal STR markers, Y-chromosome informative SNPs, and mtDNA sequences allowed us to genotype a group of skeletons from the medieval age.

Genetic markers in primary open-angle glaucoma

Purpose: To investigate possible associations between genetic markers and Primary Open-Angle Glaucoma (POAG). Methods: A number of genetic markers were typed in 84 unrelated patients with POAG and compared with a random sample of healthy individuals. The markers were Transferrin, Group Specific Component, G1m (1), G1m (2) and G3m (5) Allotypes, Adenylate Kinase, Adenosin Deaminase, Glyoxalase I and Acid Phosphatase and PCR-based markers HLA-DQA1 and D1S80. Results: No significant differences were found except the strong association between the group of POAG patients and Acid Phosphatase ACP*C allele (χ2 = 32.86; p < 0.0001). Conclusions: Since Acid Phosphatase gene is localized to chromosome 2p23, this result could be a first comprehensive step in the localization of POAG genes.

Analysis of 10 X-STRs in three population groups from Ecuador.

X-chromosomal short tandem repeat (X-STR) loci provide a useful tool for forensic purposes [1]. Due to a sex-based mode of inheritance, the use of this genetic system has become extremely valuable in paternity testing, especially in deficiency cases involving female offspring [2]. Ecuador is a multi-ethnic country in which the admixed population of Mestizos represents 72% of the population while Native Americans account for 7% with Kichwa being the largest [3]. A second population deserving interest is the Waorani, the last population of Native American hunter-gatherers in the Eastern region of the nation. The population is composed of 3000 individuals [4] and has been previously characterized as genetically unique [5] attributed to prolonged isolation, high inbreeding and low population size. Previous studies focused on autosomal and uniparentally inherited markers [6–11] have shown evidence of the high diversity existing in the Ecuadorian population as a result of its complex history and multi-ethnic richness. However, current information on the variability of X-chromosome in Ecuador is limited [5]. This study aimed to explore the genetic structure and dynamics of Ecuadorian Waorani, Kichwa and Mestizo populations from the perspective of the X chromosome based on 10 X-STRs [12]. A population sample of 139 maternally unrelated individuals born and living in Ecuador were selected: 32 Waoranis (17 males and 15 females) and 65 Kichwas (27 males and 38 females) from the Amazonian provinces; and 42 Mestizos (28 males and 14 females) from different regions of the country. All donors gave their informed consent prior to their inclusion in the study. DNA was extracted from saliva swab samples and blood stains on FTA cards (Whatman Inc., Clifton, NJ) using the Chelex extraction procedure [13]. X-STR amplification (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789) was performed according to Gusmao et al. [12]. Alleles were separated and detected using an ABI Prism 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA). Allele frequencies were calculated using the direct counting method. Gene diversities, Hardy– Weinberg equilibrium (females), linkage disequilibrium (males) and pairwise exact test of population differentiation were tested using Arlequin software v3.0 [14]. Pairwise population comparisons between the Ecuadorian populations were performed at a single locus level (exact test of population differentiation and Fst genetic distance analysis) and for the 10 X-STRs (Fst genetic distance analysis). Additionally, pairwise Fst genetic distances were calculated between the populations from Ecuador and other available populations with the same 10 X-STRs [15–20]. Unweighted pair group method with arithmetic mean was used to build a phylogenetic tree based on Fst distances using the option

Frequencies of the five PCR-based genetic markers LDLR, GYPA, HBGG, D7S8 and GC in the population of Asturias (North Spain).

Allele and genotype frequencies of the loci LDLR, GYPA, HBGG, D7S8 and GC (PM loci) were investigated in a population sample of 215 unrelated individuals from Asturias (North Spain). Multiplex amplification and simulataneous typing of the five loci was carried out using the polymarker PCR amplification and typing kit. All loci met Hardy-Weinberg expectations. The Asturian sample does not differ significantly from other Caucasians, but significant differences were observed between this population and SW Hispanic, Afro-american and Korean populations.