Seguridad, consejos y límites para el uso del láser en la cirugía retrógrada intrarrenal / Laser safety, warnings, and limits in retrograde intrarenal surgery

Objetivo Analizar la información actual sobre la seguridad del láser en la cirugía retrógrada intrarrenal (CRIR), centrándonos en las dos principales tecnologías láser que utilizamos en urología, el láser de holmio:itrio-aluminio-granate (Ho:YAG) y el láser de fibra de tulio (TFL). Métodos Revisión narrativa de los artículos más relevantes publicados en las bases de datos Medline y Scopus sobre este tema. Resultados Los láseres TFL y Ho:YAG con ajustes similares (0,2 J/40 Hz) tienen un aumento de temperatura promedio por volumen similar y la tasa de calentamiento promedio aumenta proporcionalmente a la potencia del láser, especialmente cuando se utilizan frecuencias altas. Datos preclínicos recientes que comparan ambas tecnologías láser con diferentes ajustes del láser coinciden en que cuando la energía suministrada aumenta a expensas de frecuencias más altas, el daño térmico también aumenta. Las frecuencias más altas, a pesar del aumento de temperatura en el medio de irrigación, pueden causar lesiones térmicas accidentales por láser. Conclusiones El uso de ajustes de baja frecuencia y una irrigación adecuada es fundamental para evitar lesiones térmicas en la litotricia endoscópica con láser (LEL). Además, se recomienda el uso de gafas de seguridad láser en la LEL con Ho:YAG y TFL. (AU)

Objective To analyze the current information about laser safety in retrograde intrarenal surgery (RIRS), focusing on the two main laser technologies that we use in urology, the holmium:yttrium-aluminum-garnet (Ho:YAG) laser, and the thulium fiber laser (TFL). Methods Narrative overview of the most relevant articles published in Medline and Scopus databases about this subject. Results TFL and Ho:YAG laser at similar settings (0.2 J/40 Hz) have similar volume-averaged temperature increase and the average heating rate increase proportionally to laser power, especially when high frequencies are used. Recent preclinical data, comparing both laser technologies at different laser settings, agreed that when the delivered energy increases in expenses of higher frequencies, the thermal damage increases too. Higher frequencies, despite of the rise of temperature in the irrigation medium, can cause accidental thermal lasering lesions. Conclusions The use of low frequency settings and a proper irrigation is critical to avoid thermal injury in endoscopic laser lithotripsy (ELL). In addition, the use of laser safety eyeglasses is recommended in Ho:YAG and TFL ELL. (AU)

¿Cómo calcular el volumen litiásico y cuál es su aplicación quirúrgica? / How to estimate stone volume and its use in stone surgery: A comprehensive review?

Objetivo Las guías actuales para el tratamiento intervencionista sugieren el diámetro acumulativo de la litiasis (DAL) como factor decisivo en la elección del tratamiento quirúrgico óptimo (ureteroscopia [URS], litotricia extracorpórea por ondas de choque [LEOCh] y nefrolitotomía percutánea [NLPC]). El volumen litiásico (VL) se ha introducido recientemente para obtener una estimación más precisa de la carga litiásica. El objetivo de esta revisión es resumir los métodos disponibles para calcular el VL y su aplicación quirúrgica. Material y métodos En diciembre de 2022 se realizó una revisión sistemática de la literatura mediante búsquedas en las bases de datos Embase, Cochrane y Pubmed. Los artículos se consideraron elegibles si describían la medición del VL o la tasa libre de litiasis (TLL) tras diferentes modalidades de tratamiento (LEOCh, URS, NLPC) o la expulsión espontánea, basándose en la medición del VL. Dos revisores evaluaron de forma independiente la elegibilidad y la calidad de los artículos y realizaron la extracción de datos. Resultados En total se incluyeron 28 estudios. Todos los estudios utilizaron diferentes técnicas para calcular el VL. La medición automática del volumen pareció ser más precisa que la estimación del volumen. Los estudios in vitro mostraron que la medición automática del volumen se ajustaba más al volumen real de la litiasis, con una menor variabilidad interobservador. A diferencia de la NLPC y la LEOCh, en la URS se observó que el VL era un mejor predictor de mejor la TLL que el diámetro litiásico mayor o el diámetro acumulativo en litiasis >20mm. Conclusiones Calcular el VL —de forma manual o automática— es factible, y probablemente se ajuste más a la carga litiásica real. Aunque en el caso de las litiasis grandes tratadas mediante cirugía intrarrenal retrógrada el VL parece predecir mejor la TLL, la superioridad del VL en todas las cargas litiásicas y para todos los tipos de tratamiento está aún por demostrar. ... (AU)

Objective Current interventional guidelines refer to the cumulative stone diameter to choose the appropriate surgical modality (ureteroscopy (URS), extracorporeal shockwave lithotripsy (ESWL) and percutaneous nephrolithotomy (PCNL)). The stone volume (SV) has been introduced recently, to better estimate the stone burden. This review aimed to summarize the available methods to evaluate the SV and its use in urolithiasis treatment. Material and methods A comprehensive review of the literature was performed in December 2022 by searching Embase, Cochrane and Pubmed databases. Articles were considered eligible if they described SV measurement or the stone free rate after different treatment modalities (SWL, URS, PCNL) or spontaneous passage, based on SV measurement. Two reviewers independently assessed the eligibility and the quality of the articles and performed the data extraction. Results In total, 28 studies were included. All studies used different measurement techniques for stone volume. The automated volume measurement appeared to be more precise than the calculated volume. In vitro studies showed that the automated volume measurement was closer to actual stone volume, with a lower inter-observer variability. Regarding URS, stone volume was found to be more predictive of stone free rates as compared to maximum stone diameter or cumulative diameter for stones >20mm. This was not the case for PCNL and SWL. Conclusions Stone volume estimation is feasible, manually or automatically and is likely a better representation of the actual stone burden. While for larger stones treated by retrograde intrarenal surgery, stone volume appears to be a better predictor of SFR, the superiority of stone volume throughout all stone burdens and for all stone treatments, remains to be proven. Automated volume acquisition is more precise and reproducible than calculated volume. (AU)

How to estimate stone volume and its use in stone surgery: a comprehensive review.

OBJECTIVE: Current interventional guidelines refer to the cumulative stone diameter to choose the appropriate surgical modality (ureteroscopy [URS], extracorporeal shockwave lithotripsy [ESWL] and percutaneous nephrolithotomy [PCNL]). The stone volume (SV) has been introduced recently, to better estimate the stone burden. This review aimed to summarize the available methods to evaluate the SV and its use in urolithiasis treatment. MATERIAL AND METHODS: A comprehensive review of the literature was performed in December 2022 by searching Embase, Cochrane and Pubmed databases. Articles were considered eligible if they described SV measurement or the stone free rate after different treatment modalities (SWL, URS, PCNL) or spontaneous passage, based on SV measurement. Two reviewers independently assessed the eligibility and the quality of the articles and performed the data extraction. RESULTS: In total, 28 studies were included. All studies used different measurement techniques for stone volume. The automated volume measurement appeared to be more precise than the calculated volume. In vitro studies showed that the automated volume measurement was closer to actual stone volume, with a lower inter-observer variability. Regarding URS, stone volume was found to be more predictive of stone free rates as compared to maximum stone diameter or cumulative diameter for stones >20 mm. This was not the case for PCNL and SWL. CONCLUSIONS: Stone volume estimation is feasible, manually or automatically and is likely a better representation of the actual stone burden. While for larger stones treated by retrograde intrarenal surgery, stone volume appears to be a better predictor of SFR, the superiority of stone volume throughout all stone burdens and for all stone treatments, remains to be proven. Automated volume acquisition is more precise and reproducible than calculated volume.

Laser safety, warnings, and limits in retrograde intrarenal surgery.

OBJECTIVE: To analyze the current information about laser safety in retrograde intrarenal surgery (RIRS), focusing on the two main laser technologies that we use in urology, the holmium:yttrium-aluminum-garnet (Ho:YAG) laser, and the thulium fiber laser (TFL). METHODS: Narrative overview of the most relevant articles published in MEDLINE and Scopus databases about this subject. RESULTS: TFL and Ho:YAG laser at similar settings (0.2 J/40 Hz) have similar volume-averaged temperature increase and the average heating rate increase proportionally to laser power, especially when high frequencies are used. Recent preclinical data, comparing both laser technologies at different laser settings, agreed that when the delivered energy increases in expenses of higher frequencies, the thermal damage increases too. Higher frequencies, despite of the rise of temperature in the irrigation medium, can cause accidental thermal lasering lesions. CONCLUSION: The use of low frequency settings and a proper irrigation is critical to avoid thermal injury in endoscopic laser lithotripsy. In addition, the use of laser safety eyeglasses is recommended in Ho:YAG and TFL ELL.

Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era.

Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high-throughput studies. Several appealing properties justify the application of mtDNA to understand how human populations are-from a genetic perspective-and how individuals exhibit phenotypes of biomedical importance. Here, I review the basics of mitochondrial studies with a focus on the dawn of the field, analysis methods and the connection between two sides of mitochondrial genetics: anthropological and biomedical. The particularities of mtDNA, with respect to inheritance pattern, evolutionary rate and dependence on the nuclear genome, explain the challenges of associating mtDNA composition and diseases. Finally, I consider the relevance of this single locus in the context of omics research. The present work may serve as a tribute to a tool that has provided important insights into the past and present of humankind.

Ablation rates with Holmium:YAG and Thulium Fiber Laser: Influence of the stone phantom homogeneity. An in vitro study.

OBJECTIVES: The lithotripsy efficiency (LE) in vitro study requires artificial or human stone samples (AS, HS). With the development of dusting lithotripsy, less ex vivo HS are available. We aimed to compare Thulium Fiber Laser (TFL) and Holmium:YAG (Ho:YAG)'s LE and define the most accurate LE parameter. METHODS: Hard and soft homogenous- and heterogenous-AS (Ho-AS, He-AS) were made to reproduce calcium-oxalate monohydrate and uric acid stones, respectively by a rapid or slow brewing of BegostonePlus (Bego) and distilled water. One hundred and fifty and 272µm-laser fibers, connected to 50W-TFL and 30W-HoYAG generators, compared three settings for TFL (FD: 0.15J/100Hz; D: 0.5J/30Hz; Fr: 1J/15Hz) and two for Ho:YAG (D-Fr). An experimental setup consisted in immerged 10mm cubic stone phantoms with a 20 seconds' lasing spiral, in contact mode, repeated four times. Stones were dried, weighted and µ-scanned (ablation weight and volume [AW and AV]). RESULTS: With He-AS, dusting AV were four- and three-fold higher with TFL compared to Ho:YAG against hard and soft (P<0.05). In fragmentation, AV were two-fold higher with TFL compared to Ho:YAG against hard (P<0.05) and soft (P<0.05). Experiments with Ho-AS were associated with non-significant differences when comparing TFL-150µm and TFL-272µm. The ablation weight-volume correlation coefficients was higher with Ho-AS than with He-AS (P<0.0001), and with hard than soft AS. If the LE can be estimated by the AW with hard AS, this approximation is not consistent for soft AS. CONCLUSION: TFL presented higher ablation rates than Ho:YAG, significant with He-AS. If the AW is acceptable and less expensive for hard Ho-AS, AV are more accurate for He-AS, which are suggested to imitate closely HS.

Genetic variation patterns of ß-thalassemia in Western Andalusia (Spain) reveal a structure of specific mutations within the Iberian Peninsula.

BACKGROUND: Analyses of the genomic variation in the western Mediterranean population are being used to reveal its evolutionary history and to understand the molecular basis of particular diseases. AIM: To observe the ß-thalassemia mutational spectrum in western Andalusia, Spain, in the context of the Mediterranean. In addition, associations between disease and neutral gene variants within the ß-globin gene (HBB) were also evaluated. SUBJECTS AND METHODS: This study included 63 unrelated individuals diagnosed with ß-thalassemia. In addition, 97 unrelated, healthy subjects of the same territory were also analysed as proxies of the normal genetic background. Allele associations and population genetic structure analyses were performed using different methodologies. RESULTS: Data have revealed a rather restricted spectrum of ß-thalassemia mutations in the analysed sample. Although the detected variants fit well with the Mediterranean pattern, certain singularities support a structure of some specific ß-thalassemia alleles. The IVSI-1 (G > A) shows a strong regionalisation. The spatial correlogram revealed a typically narrow wave structure, presumably linked to genetic isolation and genetic drift. CONCLUSIONS: The long history of endemic malaria in the study territory, the rather high consanguinity rates among its autochthonous population, and other demographic features have been used here to understand the western Andalusian ß-thalassemia molecular portrait.

Assessment of a wide array of contaminants of emerging concern in a Mediterranean water basin (Guadalhorce river, Spain): Motivations for an improvement of water management and pollutants surveillance.

This study investigates the occurrence and distribution of 185 organic contaminants (regulated pollutants and contaminants of emerging concern; CECs) in surface and groundwater of the Guadalhorce River basin (southern Spain) providing the most detailed dataset regarding organic pollution presented so far in this area. Up to 63 contaminants were detected in a monitoring campaign conducted in March 2016. Most contaminants were detected more frequently in surface water where they generally present higher concentrations suggesting the prevalence of wastewater discharges into streams as the main pollutant sources. In general, hydrophobic CECs presented the highest frequencies of detection and concentrations, which can be a consequence of several factors: (1) hydrophobic compounds show a higher retardation factor, which result, along with a continuous contaminant input, in a widespread and homogeneous distribution. In contrast, hydrophilic contaminants are more easily transported by water flows towards the lower basin and potentially accumulate as driven by groundwater flow and because of low renewal rates in the detrital aquifers caused by re-pumping and irrigation return flows in agricultural lands; (2) hydrophobic CECs studied in this research are mainly personal care products and organophosphate esters flame retardants and plasticizers, which are present in many different products and are used in large amounts; Also, (3) use of biosolids (reclaimed sewer sludge) as fertilizer for crops is potentially an additional diffuse source of organic pollutants in the study area contributing to a widespread distribution, especially for hydrophobic compounds. Obtained results highlight the need to better define the potential risk of non-regulated contaminants in water resources as well as the great impact of untreated wastewater discharges.

Structural control of the non-ionic surfactant alcohol ethoxylates (AEOs) on transport in natural soils.

Surfactants, after use, enter the environment through diffuse and point sources such as irrigation with treated and non-treated waste water and urban and industrial wastewater discharges. For the group of non-ionic synthetic surfactant alcohol ethoxylates (AEOs), most of the available information is restricted to the levels and fate in aquatic systems, whereas current knowledge of their behavior in soils is very limited. Here we characterize the behavior of different homologs (C12-C18) and ethoxymers (EO3, EO6, and EO8) of the AEOs through batch experiments and under unsaturated flow conditions during infiltration experiments. Experiments used two different agricultural soils from a region irrigated with reclaimed water (Guadalete River basin, SW Spain). In parallel, water flow and chemical transport were modelled using the HYDRUS-1D software package, calibrated using the infiltration experimental data. Estimates of water flow and reactive transport of all surfactants were in good agreement between infiltration experiments and simulations. The sorption process followed a Freundlich isotherm for most of the target compounds. A systematic comparison between sorption data obtained from batch and infiltration experiments revealed that the sorption coefficient (Kd) was generally lower in infiltration experiments, performed under environmental flow conditions, than in batch experiments in the absence of flow, whereas the exponent (ß) did not show significant differences. For the low clay and organic carbon content of the soils used, no clear dependence of Kd on them was observed. Our work thus highlights the need to use reactive transport parameterization inferred under realistic conditions to assess the risk associated with alcohol ethoxylates in subsurface environments.

Human Genomic Diversity Where the Mediterranean Joins the Atlantic.

Throughout the past few years, a lively debate emerged about the timing and magnitude of the human migrations between the Iberian Peninsula and the Maghreb. Several pieces of evidence, including archaeological, anthropological, historical, and genetic data, have pointed to a complex and intermingled evolutionary history in the western Mediterranean area. To study to what extent connections across the Strait of Gibraltar and surrounding areas have shaped the present-day genomic diversity of its populations, we have performed a screening of 2.5 million single-nucleotide polymorphisms in 142 samples from southern Spain, southern Portugal, and Morocco. We built comprehensive data sets of the studied area and we implemented multistep bioinformatic approaches to assess population structure, demographic histories, and admixture dynamics. Both local and global ancestry inference showed an internal substructure in the Iberian Peninsula, mainly linked to a differential African ancestry. Western Iberia, from southern Portugal to Galicia, constituted an independent cluster within Iberia characterized by an enriched African genomic input. Migration time modeling showed recent historic dates for the admixture events occurring both in Iberia and in the North of Africa. However, an integrative vision of both paleogenomic and modern DNA data allowed us to detect chronological transitions and population turnovers that could be the result of transcontinental migrations dating back from Neolithic times. The present contribution aimed to fill the gaps in the modern human genomic record of a key geographic area, where the Mediterranean and the Atlantic come together.

Paternal lineages in southern Iberia provide time frames for gene flow from mainland Europe and the Mediterranean world.

BACKGROUND: The geography of southern Iberia and an abundant archaeological record of human occupation are ideal conditions for a full understanding of scenarios of genetic history in the area. Recent advances in the phylogeography of Y-chromosome lineages offer the opportunity to set upper bounds for the appearance of different genetic components. AIM: To provide a global knowledge on the Y haplogroups observed in Andalusia with their Y microsatellite variation. Preferential attention is given to the vehement debate about the age, origin and expansion of R1b-M269 clade and sub-lineages. SUBJECT AND METHODS: Four hundred and fourteen male DNA samples from western and eastern autochthonous Andalusians were genotyped for a set of Y-SNPs and Y-STRs. Gene diversity, potential population genetic structures and coalescent times were assessed. RESULTS: Most of the analysed samples belong to the European haplogroup R1b1a1a2-M269, whereas haplogroups E, J, I, G and T show lower frequencies. A phylogenetic dissection of the R1b-M269 was performed and younger time frames than those previously reported in the literature were obtained for its sub-lineages. CONCLUSION: The particular Andalusian R1b-M269 assemblage confirms the shallow topology of the clade. Moreover, the sharing of lineages with the rest of Europe indicates the impact in Iberia of an amount of pre-existing diversity, with the possible exception of R1b-DF27. Lineages such as J2-M172 and G-M201 highlight the importance of maritime travels of early farmers who reached the Iberian Peninsula.

Matrilineal Heritage in Southern Iberia Reveals Deep Genetic Links between Continents.

Within the Mediterranean Basin, the Iberian Peninsula has been a focus of attraction for several cultures and civilizations from its prehistory and history, making it a target territory for studying human migration patterns and peopling processes using a wide and heterogeneous spectrum of genomic markers. While its Cantabrian fringe represents the most regularly analysed area in terms of its mitochondrial diversity, the absence of monographic surveys on the maternal genetic composition of southern Iberians (i.e., Andalusians) is striking. In this work, we present a comprehensive view of various aspects of the human maternal heritage of the autochthonous Andalusian population regarding specific mitochondrial haplogroups considered key candidates to determine the genetic relationship between Europe and Africa. Data reveal that southern Iberian populations do not have genetically homogeneous mitochondrial DNA profiles, and their observed genetic affinity with north-western African populations represents strong signals of old, sustained and bidirectional human movements between the northern and southern shores of the western Mediterranean. Thorough analyses of African mtDNA haplogroups have shown that the most relevant African contribution within Iberian Peninsula could be explained as a consequence of prehistoric events. The subsequent historic episodes helped to strengthen the ties between both shores. In southern Iberia, mitochondrial and other genetic markers show that the Strait of Gibraltar together with its surrounding maritime areas should be considered a bridge between continents. More broadly, the Mediterranean Sea has acted as a transport surface, that is, as a permeable barrier to human migrations from prehistoric and historic times. In conclusion, this research contributes to our knowledge of processes that have shaped the recent human genetic history in the Mediterranean and, more specifically, of the population dynamics that the inhabitants of southern Iberia have experienced with respect to other neighbouring North African populations.

The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean.

BACKGROUND: The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H. These characteristics permit the analysis of ancient migrations between both shores, which may have occurred via primitive sea crafts and early seafaring. We collected a sample of 750 autochthonous people from the southern Iberian Peninsula (Andalusians from Huelva and Granada provinces). We performed a high-resolution analysis of haplogroup H by control region sequencing and coding SNP screening of the 337 individuals harboring this maternal marker. Our results were compared with those of a wide panel of populations, including individuals from Iberia, the Maghreb, and other regions around the Mediterranean, collected from the literature. RESULTS: Both Andalusian subpopulations showed a typical western European profile for the internal composition of clade H, but eastern Andalusians from Granada also revealed interesting traces from the eastern Mediterranean. The basal nodes of the most frequent H sub-haplogroups, H1 and H3, harbored many individuals of Iberian and Maghrebian origins. Derived haplotypes were found in both regions; haplotypes were shared far more frequently between Andalusia and Morocco than between Andalusia and the rest of the Maghreb. These and previous results indicate intense, ancient and sustained contact among populations on both sides of the Mediterranean. CONCLUSIONS: Our genetic data on mtDNA diversity, combined with corresponding archaeological similarities, provide support for arguments favoring prehistoric bonds with a genetic legacy traceable in extant populations. Furthermore, the results presented here indicate that the Strait of Gibraltar and the adjacent Alboran Sea, which have often been assumed to be an insurmountable geographic barrier in prehistory, served as a frequently traveled route between continents.

Early Holocenic and Historic mtDNA African Signatures in the Iberian Peninsula: The Andalusian Region as a Paradigm.

Determining the timing, identity and direction of migrations in the Mediterranean Basin, the role of "migratory routes" in and among regions of Africa, Europe and Asia, and the effects of sex-specific behaviors of population movements have important implications for our understanding of the present human genetic diversity. A crucial component of the Mediterranean world is its westernmost region. Clear features of transcontinental ancient contacts between North African and Iberian populations surrounding the maritime region of Gibraltar Strait have been identified from archeological data. The attempt to discern origin and dates of migration between close geographically related regions has been a challenge in the field of uniparental-based population genetics. Mitochondrial DNA (mtDNA) studies have been focused on surveying the H1, H3 and V lineages when trying to ascertain north-south migrations, and U6 and L in the opposite direction, assuming that those lineages are good proxies for the ancestry of each side of the Mediterranean. To this end, in the present work we have screened entire mtDNA sequences belonging to U6, M1 and L haplogroups in Andalusians--from Huelva and Granada provinces--and Moroccan Berbers. We present here pioneer data and interpretations on the role of NW Africa and the Iberian Peninsula regarding the time of origin, number of founders and expansion directions of these specific markers. The estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that U6 and some L lineages moved together from Africa to Iberia in the Early Holocene. Still, founder analysis highlights that the high sharing of lineages between North Africa and Iberia results from a complex process continued through time, impairing simplistic interpretations. In particular, our work supports the existence of an ancient, frequently denied, bridge connecting the Maghreb and Andalusia.

Surnames and Y-chromosomal markers reveal low relationships in Southern Spain.

A sample of 416 males from western and eastern Andalusia has been jointly analyzed for surnames and Y-chromosome haplogroups and haplotypes. The observed number of different surnames was 222 (353 when the second surname of the Spanish system of naming is considered). The great majority of recorded surnames have a Castilian-Leonese origin, while Catalan or Basque surnames have not been found. A few Arab-related surnames appear but none discernible of Sephardic-Jewish descent. Low correlation among surnames with different population frequencies and Y-chromosome markers, at different levels of genetic resolution, has been observed in Andalusia. This finding could be explained mainly by the very low rate of monophyletic surnames because of the historical process of surname ascription and the resulting high frequencies of the most common Spanish surnames. The introduction of surnames in Spain during the Middle Ages coincided with Reconquest of the territories under Islamic rule, and Muslims and Jews progressively adopted the present male line surname system. Sampled surnames and Y-chromosome lineages fit well a power-law distribution and observed isonymy is very close to that of the general population. Besides, our data and results show that the reliability of the isonymy method should be questioned because of the high rate of polyphyletic surnames, even in small geographic regions and autochthonous populations. Random isonymy would be consistently dependent of the most common surname frequencies in the population.

Immunoglobulin genes in Andalusia (Spain). Genetic diversity in the Mediterranean space.

Andalusia is the most densely populated region of Spain since ancient times, and has a rich history of contacts across the Mediterranean. Earlier studies have underlined the relatively high frequency of the Sub-Saharan GM 1,17 5* haplotype in western Andalusia (Huelva province, n=252) and neighbouring Atlantic regions. Here, we provide novel data on GM/KM markers in eastern Andalusians (n=195) from Granada province, where African GM*1,17 5* frequency is relatively high (0.044). The most frequent GM haplotypes in Andalusia parallel the most common in Europe. Altogether, these data allow us to gain insight into the genetic diversity of southern Iberia. Additionally, we assess population structure by comparing our Iberian samples with 41 Mediterranean populations. GM haplotype variation across the Mediterranean reflects intense and complex interactions between North Africans and South Europeans along human history, highlighting that African influence over the Iberian Peninsula does not follow an isotropic pattern.

New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain).

BACKGROUND: The APOE gene has received much attention due to the remarkable spatial variation patterns of some of its genotypes and alleles in human populations and to its relevance in biomedicine. AIM: This work was addressed to investigate the extent of APOE polymorphism between autochthonous Andalusians originating from Huelva and Granada provinces. No data on this marker in these southern Spanish coastal populations are available up to date. SUBJECTS AND METHODS: This study used genomic DNA from healthy, unrelated Andalusians of both sexes (n = 322). All samples were genotyped for two SNPs, rs429358 and rs7412, which determine the three APOE alleles: ε2, ε3 and ε4. For analyses, a TaqMan-based technique was applied using a RT-PCR. Comparisons with other Mediterranean populations were performed based on multivariate analysis. RESULTS: A relatively high frequency of ε4 in Granada (eastern Andalusia), as well as a low ε2 frequency in Huelva (western Andalusia) were observed. The finding that ε4 allele in Southern Spain and Portugal is higher than expected given its geographical location poses an interesting question for this study, given the well-established APOE-ε4 gradient in Europe. CONCLUSION: This population study may represent useful information for further prospective anthropological and molecular genetic studies focused on unravelling the relationship between population genetic composition and specific human diseases.

Human maternal heritage in Andalusia (Spain): its composition reveals high internal complexity and distinctive influences of mtDNA haplogroups U6 and L in the western and eastern side of region.

BACKGROUND: The archeology and history of the ancient Mediterranean have shown that this sea has been a permeable obstacle to human migration. Multiple cultural exchanges around the Mediterranean have taken place with presumably population admixtures. A gravitational territory of those migrations has been the Iberian Peninsula. Here we present a comprehensive analysis of the maternal gene pool, by means of control region sequencing and PCR-RFLP typing, of autochthonous Andalusians originating from the coastal provinces of Huelva and Granada, located respectively in the west and the east of the region. RESULTS: The mtDNA haplogroup composition of these two southern Spanish populations has revealed a wide spectrum of haplogroups from different geographical origins. The registered frequencies of Eurasian markers, together with the high incidence and diversification of African maternal lineages (15% of the total mitochondrial variability) among Huelva Andalusians when compared to its eastwards relatives of Granada and other Iberian populations, constitute relevant findings unknown up-to-date on the characteristics of mtDNA within Andalusia that testifies a female population substructure. Therefore, Andalusia must not be considered a single, unique population. CONCLUSIONS: The maternal legacy among Andalusians reflects distinctive local histories, pointing out the role of the westernmost territory of Peninsular Spain as a noticeable recipient of multiple and diverse human migrations. The obtained results underline the necessity of further research on genetic relationships in both sides of the western Mediterranean, using carefully collected samples from autochthonous individuals. Many studies have focused on recent North African gene flow towards Iberia, yet scientific attention should be now directed to thoroughly study the introduction of European genes in northwest Africa across the sea, in order to determine its magnitude, timescale and methods, and to compare them to those terrestrial movements from eastern Africa and southwestern Asia.

Monitoring the occurrence of emerging contaminants in treated wastewater and groundwater between 2008 and 2010. The Baix Llobregat (Barcelona, Spain).

The occurrence of 166 emerging compounds and four heavy metals (Cd, Ni, Hg and Pb) in treated wastewater and groundwater has been monitored at the Llobregat delta (Barcelona, Spain) over a period of 3 years. Selected compounds were pharmaceuticals, personal care products (PCPs), dioxins, polycyclic aromatic hydrocarbons (PAHs) and priority substances included in the 2008/105/CE Directive. Analysis was performed in tertiary treated wastewater (TWW), after an additional treatment of ultrafiltration reverse osmosis and UV disinfection, and groundwater from a deep confined aquifer. This aquifer is artificially recharged with TWW through injection wells. After the advanced treatment, 38 pharmaceuticals, 9 PCPs, 9 pesticides and 7 PAHs still showed a frequency of detection higher than 25% in the TWW, although at low concentration levels (ng/l). Not all active compounds found in the TWW were present in groundwater, indicating possible degradation within the aquifer media after the injection. A number of chemicals, mainly 10 pesticides and 10 pharmaceuticals were only present in groundwater samples, confirming a different origin than the injected TWW, probably agricultural activities and/or infiltration of poorly treated wastewater.

The effects of a low frequency acoustic waveform on peripheral vascular disease: a pilot study.

OBJECTIVE: To evaluate the effects of a low frequency acoustic waveform on peripheral vascular disease (PVD). DESIGN: Pilot study utilizing a one-group pre-intervention, post-intervention design. SETTING: Adults with peripheral vascular disease were recruited through local advertisements. The study was conducted at a local facility housing the electroacoustic transducer. INTERVENTION: A 25-min exposure to an electroacoustic transducer. OUTCOME MEASURES: Pre- and post-measurement of Doppler ultrasound blood-flow velocities in 10 arteries, ankle brachial index (RBI), foot assessment, and 1-week post telephone survey. RESULTS: A significant increase was noted in the right ankle brachial index (RABI) but not the left. Blood flow increased in all arteries, significantly in four. Thirteen participants reported improvement in symptom of peripheral vascular disease over the following week. CONCLUSIONS: While conclusions must be viewed cautiously, the significant differences noted warrant further study to examine effects of acoustic waveforms on peripheral vascular disease.