Exploring the Western Mediterranean through X-chromosome.

In this study, we investigate the forensic and population genetics properties of 21 X-chromosome markers (9 X-Alu insertions and 12 X-STRs) in a dataset composed of 716 individuals from 11 Western Mediterranean populations. The high values of combined forensic parameters indicate that this 21 X-loci panel can complement autosomal or uniparental markers in kinship analysis and complex deficient paternity testing in the populations studied. Population analyses revealed a lower differentiation between Western Mediterranean human groups for X-STRs than for X-Alu insertion polymorphisms. Moreover, X-chromosome markers suggest a sex-biased migration rate, confirming the predominance of patrilocality in this area.

Middle eastern genetic legacy in the paternal and maternal gene pools of Chuetas.

Chuetas are a group of descendants of Majorcan Crypto-Jews (Balearic Islands, Spain) who were socially stigmatized and segregated by their Majorcan neighbours until recently; generating a community that, although after the seventeenth century no longer contained Judaic religious elements, maintained strong group cohesion, Jewishness consciousness, and endogamy. Collective memory fixed 15 surnames as a most important defining element of Chueta families. Previous studies demonstrated Chuetas were a differentiated population, with a considerable proportion of their original genetic make-up. Genetic data of Y-chromosome polymorphism and mtDNA control region showed, in Chuetas' paternal lineages, high prevalence of haplogroups J2-M172 (33%) and J1-M267 (18%). In maternal lineages, the Chuetas hallmark is the presence of a new sub-branching of the rare haplogroup R0a2m as their modal haplogroup (21%). Genetic diversity in both Y-chromosome and mtDNA indicates the Chueta community has managed to avoid the expected heterogeneity decrease in their gene pool after centuries of isolation and inbreeding. Moreover, the composition of their uniparentally transmitted lineages demonstrates a remarkable signature of Middle Eastern ancestry-despite some degree of host admixture-confirming Chuetas have retained over the centuries a considerable degree of ancestral genetic signature along with the cultural memory of their Jewish origin.

Analysis of 21 X-chromosome polymorphisms in urban and rural populations in Salta province (north-western Argentina).

Population genetic data for 21 X-chromosome markers (Alu insertions and STRs) are reported for two populations (rural and urban) in Salta province (north-western Argentina). New variants are described, confirming the complexity and variability of some markers in this set. Results reveal Salta populations harbor a high Native American component, despite their self-recognized European ancestry. Notwithstanding the high genetic similarity of both populations, the rural sample seems to have maintained a larger Amerindian legacy. Data further show these X-linked markers, especially STRs, are highly informative in Salta populations and, therefore, can contribute to the development of a local database for forensic purposes in north-western Argentina.

Genetic portrait of Jewish populations based on three sets of X-chromosome markers: Indels, Alu insertions and STRs.

Population genetic data for 53 X-chromosome markers (32 X-indels, 9 X-Alu insertions and 12 X-STRs) are reported for five populations with Jewish ancestry (Sephardim, North African Jews, Middle Eastern Jews, Ashkenazim, and Chuetas) and Majorca, as the host population of Chuetas. Genetic distances between these populations demonstrated significant differences, except between Sephardic and North African Jews, with the Chuetas as the most differentiated group, in accordance with the particular demographic history of this population. X-chromosome analysis and a comparison with autosomal data suggest a generally sex-biased demographic history in Jewish populations. Asymmetry was found between female and male effective population sizes both in the admixture processes between Jewish communities, and between them and their respective non-Jewish host populations. Results further show that these X-linked markers are highly informative for forensic purposes, and highlight the need for specific databases for differentiated Jewish populations.

Forensic efficiency parameters of the Investigator Argus X-12 kit in women from two Mestizo and seven Amerindian populations from Mexico.

Allele frequency distribution and statistical parameters of forensic efficiency concerning the Investigator Argus X-12 kit (Qiagen, Hilden, Germany) were determined in a total sample of 641 unrelated Mexican females, including two Mestizo-admixed- populations (n=309) and seven Amerindian groups (n=332) from the main regions of the country. Most of the 12 X-STRs were in agreement with Hardy-Weinberg expectations in all nine Mexican populations. The power of discrimination in females (PD) and Median exclusion chance for trios (MECT) and duos (MECD) of this genetic system based on X-STRs were >99.99%. Although Mexican populations showed significant pairwise differentiation, a closer relationship was evident between Amerindian groups and nearby Mestizos, in agreement with historical records, previous genetic studies, and X-linked inheritance pattern expectations.

Genetic diversity of 38 insertion-deletion polymorphisms in Jewish populations.

Population genetic data of 38 non-coding biallelic autosomal indels are reported for 466 individuals, representing six populations with Jewish ancestry (Ashkenazim, Mizrahim, Sephardim, North African, Chuetas and Bragança crypto-Jews). Intra-population diversity and forensic parameters values showed that this set of indels was highly informative for forensic applications in the Jewish populations studied. Genetic distance analysis demonstrated that this set of markers efficiently separates populations from different continents, but does not seem effective for molecular anthropology studies in Mediterranean region. Finally, it is important to highlight that although the genetic distances between Jewish populations were small, significant differences were observed for Chuetas and Bragança Jews, and therefore, specific databases must be used for these populations.

Genetic analysis of 12 X-chromosome STRs in Western Mediterranean populations.

Haplotype and allele frequencies of 12 X-STRs included in the Investigator Argus X-12 kit are reported for 255 individuals, representing four Western Mediterranean populations: Valencia (eastern mainland Spain) and the Balearic Islands (Majorca, Minorca, and Ibiza). Ibiza shows the lowest intra-population variability and the highest level of linkage disequilibrium together with an important genetic distance with regard to the geographically close populations, which is consistent with the historical evidence for long-term demographic isolation and its different matrilineal background.

[Gynecomastia and testicular tumor in children with Peutz-Jeghers syndrome]. / Ginecomastia y tumor testicular en niño afecto de síndrome de Peutz-Jeghers.

The rarity of both conditions and the precocity of its onset (4 years old) make the case of interest for pediatricians and pediatric surgeons. The finding of a testicular tumor poses same differences of criterium about its management.

[Abdominal cystic lymphangioma]. / Linfangioma quístico abdominal.

The cystic lymphangioma is a benign slow-growing tumor derived of the lymphatic vessels. It is presented with more frequency in the childhood and the great majority are diagnosed under 5 years of life. The most frequent localization is in head and neck, although they can be developed in any organ or soft tissue. The intraabdominal presentation is not very frequent (2-8%). The clinical presentation is very variable being the most frequent sign the appearance of an effect mass. The diagnosis of suspicion is radiological by means of abdominal ultrasonography and computed tomography. The treatment is surgical. The definitive diagnosis is always histologic. They can recidive. We present two abdominal cases that illustrate this pathology type.

[Neuroblastoma with bone marrow invasion. A multicenter study. Work Group of the Spanish Society of Pediatric Surgery]. / Neuroblastomas con médula ósea invadida. Estudio multicéntrico. Grupo de Trabajo de la Sociedad Española de Cirugía Pediátrica.

By means of a retrospective study made of multiple centres, it was aimed to determine which variables could be influential at the moment of diagnosis in the prognostic of patients suffering neuroblastoma and medullary bone affection. Fifty four cases of patients belonging to a total of ten hospital centers have been revised in a period of five years. The ages under study spanned from three months to eight years of age (mean = 2.83 years). For the analysis of the patients, they were divided into two groups: one being composed of the deceased patients and the other of the surviving. The deceased patients were of a more advanced age, the delay in the diagnosis was greater, the primitive tumor was found to be more frequently located in the adrenal glands, the metastasis appeared more readily in multiples, and the effectiveness of the treatment was less, resulting in lower cases of remission and a less radical surgery. The only difference with respect to other publications is that in the case of surviving patients, the number of cases of enolase and ferritin is more frequently pathological.