High aluminum content in bone of marine mammals and its relation with source levels and origin.

Although aluminum is widely distributed in the earth's crust, its environmental availability and wildlife assimilation rates are only partially known. Here we analyze aluminum concentrations in bone from 10 species of marine mammals inhabiting 3 geographic areas subject to different aluminum inputs: the Río de la Plata estuary (Uruguay), the coastal waters of Mauritania and the Galapagos archipelago (Ecuador). Overall, concentrations were unusually high as compared to those of terrestrial animals, with lowest concentrations in the Galapagos archipelago, then the Río de la Plata estuary and finally Mauritania. The aluminum source varied between regions, prevailing anthropogenic sources in the Río de la Plata Estuary and natural sources (wind-blown dust) in Mauritanian waters. The type of source determined contamination levels: anthropogenic sources were most significant for coastal species and showed a decline with distance of habitat from shoreline, while natural sources had a higher influence on open waters because of the dearth of biogenic silica that eliminates aluminum from the water column. Since aluminum remains in bone for several decades, marine mammal bone reflects historical levels of aluminum and therefore is a good bioindicator of the aluminum concentration of the marine environment.

Postnatal genetic and neurodevelopmental assessment in infants born at term with severely low birth weight of non-placental origin.

OBJECTIVE: To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non-malformed infants born at term with severely low birth weight and no evidence of placental insufficiency. METHODS: This case series was constructed from the data of infants delivered at term between 2013 and 2018 with severely low birth weight, defined as birth weight more than 2.5 SD below the mean, with normal maternal and fetal Doppler (umbilical artery, fetal middle cerebral artery, cerebroplacental ratio and uterine artery) and no maternal hypertensive disorder during pregnancy or fetal structural anomaly on prenatal ultrasound examination. Clinical exome sequencing and copy number variation (CNV) analysis were performed using DNA extracted from the children's saliva. Cognitive and psychomotor development was evaluated using the Bayley Scales of Infant and Toddler Development, 3rd edition or the Wechsler Intelligence Scale for Children, 5th edition tests, according to the child's age at testing. RESULTS: Among the 36 405 infants born within the study period, 274 (0.75%) had a birth weight below -2.5 SD, of whom 98 met the inclusion criteria. Among the 63 families contacted, seven (11%) reported a postnatal diagnosis of a genetic syndrome and a further 18 consented to participate in the study. Median gestational age at delivery was 38.0 (interquartile range (IQR), 37.3-38.5) weeks and median birth weight was 2020 (IQR, 1908-2248) g. All 18 children showed a normal result on clinical exome sequencing and CNV analysis, but six (33%) obtained a low score on neurodevelopmental testing. CONCLUSION: Non-malformed severely small term infants with no clinical or Doppler signs of placental insufficiency present a high rate of genetic syndromes and neurodevelopmental impairment during childhood. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.

OBJECTIVE: To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem structural anomalies (at least two major anomalies in different anatomical systems). METHOD: This was a systematic review conducted in accordance with PRISMA guidelines. Searching PubMed, Web of Knowledge and Cochrane database, we identified studies describing ES, whole-genome and/or next-generation sequencing in fetuses with multisystem malformations. Included were observational studies involving five or more eligible fetuses. A fetus was eligible for inclusion if it had at least two major anomalies of different anatomical systems and a negative CMA or karyotyping result. Only positive variants classified as likely pathogenic or pathogenic determined to be causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. The diagnostic yield of the primary outcome was calculated by single-proportion analysis using random-effects modeling. A subgroup analysis was performed to compare the diagnostic yield of the solo approach (fetus alone sequenced) with that of the trio approach (fetus and both parents sequenced). RESULTS: Seventeen articles with data on ES diagnostic yield, including 694 individuals with multisystem malformations, were identified. Overall, a pathogenic or likely pathogenic variant potentially causative of the fetal phenotype was found in 213 fetuses, giving a 33% (95% CI, 27-40%) incremental yield of ES. A stratified analysis showed similar diagnostic yields of ES using the solo approach (30%; 95% CI, 11-52%) and the trio approach (35%; 95% CI, 26-44%). CONCLUSIONS: ES applied in fetuses with multisystem structural anomalies was able to identify a potentially causative gene when CMA or karyotyping had failed to do so in an additional one-third of cases. No differences were observed between the solo and trio approaches for ES. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis.

OBJECTIVE: To determine the diagnostic yield of exome or genome sequencing (ES/GS) over chromosomal microarray analysis (CMA) in fetuses with increased nuchal translucency (NT) and no concomitant anomalies. METHODS: This systematic review was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria. PubMed, Scopus and Web of Science were searched for studies describing ES/GS in fetuses with isolated increased NT. Inclusion criteria were: (1) study written in English; (2) more than two fetuses with increased NT > 99th percentile and no concomitant anomalies; and (3) a negative CMA result considered as the reference standard. Only positive variants identified on ES/GS that were classified as likely pathogenic or pathogenic and determined to be causative of the fetal phenotype were considered. Risk was assessed as the pooled effect size by single-proportion analysis using random-effects modeling (weighted by inverse of variance). RESULTS: Eleven studies reporting on the diagnostic yield of ES/GS in fetuses with isolated increased NT > 99th percentile were identified and included 309 cases. All studies were high quality according to Standards for Reporting of Diagnostic Accuracy. Overall, a pathogenic or likely pathogenic variant was identified on ES/GS in 15 fetuses, resulting in a pooled incremental yield of 4% (95% CI, 2-6%). Six (40%) of these fetuses had NT of 5 mm or more. The observed inheritance pattern was autosomal dominant in 12 cases, including four fetuses with Noonan syndrome, autosomal recessive in two cases and X-linked in one case. CONCLUSIONS: There is a 4% incremental diagnostic yield of ES/GS over CMA in fetuses with increased NT > 99th percentile without a concomitant anomaly. It is unclear whether a NT cut-off higher than 3.5 mm may be more useful in case selection for ES/GS. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Genetic diversity of Ethiopian sorghum reveals signatures of climatic adaptation.

KEY MESSAGE: A large collection of Ethiopian sorghum landraces, characterized by agro-ecology and racial-group, was found to contain high levels of diversity and admixture, with significant SNP associations identified for environmental adaptation. Sorghum [Sorghum bicolor L. (Moench)] is a major staple food crop in Ethiopia, exhibiting extensive genetic diversity with adaptations to diverse agroecologies. The environmental and climatic drivers, as well as the genomic basis of adaptation, are poorly understood in Ethiopian sorghum and are critical elements for the development of climate-resilient crops. Exploration of the genome-environment association (GEA) is important for identifying adaptive loci and predicting phenotypic variation. The current study aimed to better understand the GEA of a large collection of Ethiopian sorghum landraces (n = 940), characterized with genome-wide SNP markers, to investigate key traits related to adaptation to temperature, precipitation and altitude. The Ethiopian sorghum landrace collection was found to consist of 12 subpopulations with high levels of admixture (47%), representing all the major racial groups of cultivated sorghum with the exception of kafir. Redundancy analysis indicated that agroecology explained up to 10% of the total SNP variation, and geographical location up to 6%. GEA identified 18 significant SNP markers for environmental variables. These SNPs were found to be significantly enriched (P < 0.05) for a priori QTL for drought and cold adaptation. The findings from this study improve our understanding of the genetic control of adaptive traits in Ethiopian sorghum. Further, the Ethiopian sorghum germplasm collection provides sources of adaptation to harsh environments (cold and/or drought) that could be deployed in breeding programs globally for abiotic stress adaptation.

Tribological and wear behaviour of alumina toughened zirconia nanocomposites obtained by pressureless rapid microwave sintering.

Dense alumina toughened zirconia nanocomposites (ATZ, 3Y-TZP with 20 wt% Al2O3) were densified by non-conventional microwave sintering technology at relatively low temperatures (1200 and 1300 °C). The sintering method and its effect on densification, microstructure, mechanical properties and tribological behaviour were investigated. The outcomes demonstrated that the density rose as the sintering temperature was higher, and therefore the mechanical properties were enhanced, reaching a maximum hardness (18.4 ±â€¯0.4 GPa) and fracture toughness (5.7 ±â€¯0.3MPa·â€¯m1/2). In addition, the samples were subjected to a tribological test in dry and wet conditions, using artificial saliva. In both cases, the coefficient of friction and wear volume for samples obtained by microwave sintering are lower than conventional samples, with the wear volume being two times higher in dry conditions than in wet conditions.

Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?

OBJECTIVE: To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on first-trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99th centile, in order to evaluate the suitability of using standard cell-free DNA (cfDNA) testing as the sole screening test in these pregnancies. METHODS: This was a retrospective cohort study of 226 fetuses with NT > 99th centile at 11-14 weeks' gestation, between January 2013 and December 2017, in a clinical setting in which greater than 95% of pregnant women receive first-trimester combined screening. All patients underwent genetic testing by means of quantitative fluorescence polymerase chain reaction and chromosomal microarray analysis, mainly in chorionic villus samples. We assessed the theoretical yield of two cfDNA testing models, targeted cfDNA (chromosomes 21, 18 and 13) and extended cfDNA (chromosomes 21, 18, 13 and sex chromosomes), and compared it with that of cytogenetic testing and ultrasound assessment in the first and second or third trimesters. RESULTS: In the 226 fetuses analyzed, cytogenetic testing revealed 84 (37%) anomalies, including 68 typical aneuploidies (involving chromosomes 13, 18 or 21), six sex chromosome aneuploidies (four cases of monosomy X and two of trisomy X), three clinically relevant atypical chromosomal anomalies (one trisomy 22, one trisomy 21 mosaicism and one unbalanced translocation), five submicroscopic pathogenic variants and two cases with Noonan syndrome. Targeted and extended cfDNA testing would miss at least 12% (10/84) and 19% (16/84), respectively, of genetic anomalies, accounting for 4.4% and 7.1% of the fetuses with an increased NT, respectively. Finally, of the 142 fetuses with no identified genetic anomaly, a major fetal malformation was observed in 15 (10.6%) fetuses at the early anomaly scan, and in 19 (13.4%) in the second or third trimester. CONCLUSIONS: cfDNA does not appear to be the appropriate genetic test in fetuses with NT > 99th centile, given that it would miss 12-19% of genetic anomalies in this group. Additionally, first-trimester ultrasound will identify a major structural abnormality in 11% of the fetuses with NT > 99th centile and no genetic anomaly. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Performance of fetal middle cerebral artery peak systolic velocity for prediction of anemia in untransfused and transfused fetuses: systematic review and meta-analysis.

OBJECTIVE: To evaluate the performance of fetal middle cerebral artery peak systolic velocity (MCA-PSV) ≥ 1.5 multiples of the median (MoM) for the prediction of moderate-severe anemia, in untransfused and transfused fetuses. METHODS: A systematic search was performed to identify relevant observational studies reported in the period 2008-2018 that evaluated the performance of MCA-PSV, using a threshold of 1.5 MoM for the prediction of fetal anemia. Diagnosis of fetal anemia by blood sampling was the reference standard. A hierarchical summary receiver-operating characteristics (hSROC) curve was constructed using random-effects modeling. Subgroup and meta-regression analyses, according to the number of previous intrauterine transfusions, were performed. RESULTS: Twelve studies and 696 fetuses were included in the meta-analysis. The area under the hSROC curve (AUC) for moderate-severe anemia was 83%. Pooled sensitivity and specificity (95% CI) were 79% (70-86%) and 73% (62-82%), respectively, and positive and negative likelihood ratios were 2.94 (95% CI, 2.13-4.00) and 0.272 (95% CI, 0.188-0.371). When considering only untransfused fetuses, prediction improved, achieving an AUC of 87%, sensitivity of 86% (95% CI, 75-93%) and specificity of 71% (95% CI, 49-87%). A decline in sensitivity for the prediction of moderate-severe anemia by MCA-PSV ≥1.5 MoM was observed (estimate, -5.5% (95% CI, -10.7 to -0.3%), P = 0.039) as the number of previous transfusions increased. CONCLUSIONS: MCA-PSV ≥ 1.5 MoM for the prediction of moderate-severe anemia in untransfused fetuses shows moderate accuracy (86% sensitivity and 71% specificity), which declines with increasing number of intrauterine transfusions. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Rendimiento de la velocidad sistólica máxima de la arteria cerebral media fetal para la predicción de la anemia en fetos sometidos a transfusión y no sometidos: revisión sistemática y metaanálisis OBJETIVOS: Estimar las diferencias en la frecuencia del diagnóstico del útero septo mediante tres definiciones diferentes y determinar si estas diferencias son significativas en la práctica clínica, y examinar la relación entre el diagnóstico del útero septo, por medio de cada una de las tres definiciones, y la infertilidad o el aborto espontáneo previo, así como con el costo de la recomendación de cirugía. MÉTODOS: Este estudio fue un análisis secundario de los datos de un estudio prospectivo de 261 mujeres en edad reproductiva que asisten de forma consecutiva a una clínica privada especializada en el diagnóstico y tratamiento de las malformaciones congénitas del útero. El nuevo análisis de los conjuntos de datos se realizó de acuerdo con tres maneras diferentes de definir el útero septo: siguiendo las recomendaciones de la Sociedad Americana de Medicina Reproductiva (ASRM, por sus siglas en inglés), una actualización de 2016 de las de la Sociedad Americana de la Fertilidad de 1988 (ASRM-2016: profundidad de la hendidura interna del fondo uterino ≥1,5 cm, ángulo de la hendidura interna <90o y profundidad de la hendidura externa <1 cm); con base en las recomendaciones de la Sociedad Europea para la Reproducción Humana y Embriología/Sociedad Europea de Endoscopía Ginecológica (ESHRE/ESGE, por sus siglas en inglés), publicadas en 2013 y revisadas en 2016 (ESHRE/ESGE-2016: profundidad de la hendidura interna del fondo uterino >50% del espesor de la pared uterina y profundidad de la hendidura externa <50% del espesor de la pared uterina, cuando se mide el espesor de la pared uterina por encima de la línea interostial/intercornual); y utilizando una definición publicada el año pasado que se basaba en la decisión tomada con mayor frecuencia por un grupo de expertos (Malformación Uterina Congénita según los Expertos; CUME, por sus siglas en inglés) (CUME-2018: profundidad de la hendidura interna del fondo uterino ≥1 cm y profundidad de la hendidura externa del fondo uterino <1cm). Se comparó la tasa de diagnóstico del útero septo utilizando cada una de estas tres definiciones y, para cada una, se estimó la relación entre el diagnóstico y la infertilidad y/o el aborto espontáneo previo, y se anticiparon los costos asociados con su implementación mediante un método de estimación conjetural. RESULTADOS: Aunque el 32,6% (85/261) de las mujeres cumplieron con los criterios de una de las tres definiciones de útero septo, sólo el 2,7% (7/261) de ellas se pudieron definir como con útero septo de acuerdo con las tres definiciones. Significativamente, se diagnosticaron más casos de útero septo usando los criterios de ESHRE/ESGE-2016 que usando los de ASRM-2016 (31% vs 5%, riesgo relativo (RR)=6,7, P<0.0001) o de CUME-2018 (31% vs 12%, RR=2,6, P<0.0001). También se observaron casos frecuentes que no pudieron ser clasificados definitivamente por ASRM-2016 (zona gris: ni normal/arcuado ni septo; 6,5%). No hubo diferencias significativas (P>0,05) en la prevalencia de útero septo en mujeres con infertilidad vs mujeres fértiles, según ASRM-2016 (5% vs 4%), ESHRE/ESGE-2016 (35% vs 28%) o CUME-2018 (11% vs 12%). El diagnóstico del útero septo fue significativamente más frecuente en mujeres con aborto espontáneo previo, según los criterios de ASRM-2016 (11% vs 3%; P=0,04) y de CUME-2018 (22 vs 10%; P=0,04), pero no según los criterios de ESHRE/ESGE-2016 (42% vs 28%; P=0,8). Los cálculos mostraron que los costos globales para el sistema de salud dependerían en gran medida de los criterios utilizados desde el punto de vista clínico para definir el útero septo, siendo los costos asociados con la definición de ESHRE/ESGE-2016 potencialmente de 100-200 mil millones de dólares adicionales durante 5 años, en comparación con los asociados a las definiciones ASRM-2016 y CUME-2018. CONCLUSIONES: La prevalencia del útero septo según las definiciones de ESHRE/ESGE-2016, ASRM-2016 y CUME-2018 difiere considerablemente. Una limitación importante de la clasificación ASRM, que debe ser abordada, es la alta proporción de casos no clasificables originalmente denominados, por nosotros, como en la 'zona gris'. La alta tasa de sobrediagnóstico del útero septo en función de ESHRE/ESGE-2016 puede llevar a un uso innecesario de la cirugía y, por lo tanto, a un riesgo innecesario en estas mujeres y puede imponer una carga financiera considerable a los sistemas sanitarios. Se deben fomentar los esfuerzos para definir criterios clínicamente significativos y aplicables de forma universal para el diagnóstico del útero septo.

Strontium in fin whale baleen: A potential tracer of mysticete movements across the oceans?

Strontium is a metal broadly distributed in oceanic waters, where its concentrations follow gradients mainly driven by oceanographic and biological factors. Studies on terrestrial vertebrates show that Sr can accumulate in mammalian hair in amounts mainly related to the external environment, a property that has been scarcely investigated in aquatic mammals. Cetaceans are marine mammals whose skin is generally hairless, but the species belonging to the mysticete group feed through a filtering apparatus made of keratinous baleen plates that, like hair, grow continuously. During their annual latitudinal migrations, mysticetes cross water masses with variable chemo-physical characteristics that may be reflected in these tissues. In the present study, baleen plates were sampled from 10 fin whales obtained from NW Spain (N = 5) and SW Iceland (N = 5) to investigate Sr concentrations along the plates growth axis. Samples were taken longitudinally at regular 1 cm-intervals on each plate. Sr concentrations, determined through mass spectrometry, ranged from 5 to 40 mg kg-1 and increased from proximal to distal positions along plates. These results suggest a progressive adsorption of Sr on the plate surface, a process that also occurs in mammalian hair. Increasing trends were similar in the two regions but overall concentrations were significantly higher in NW Spain, reflecting different Sr baseline concentrations in the two areas and indicating isolation between the two whale populations. Some oscillations in Sr longitudinal trends were also detected, likely indicating that whales migrate across water masses with different Sr baselines. These results suggest that Sr concentrations in keratinous tissues of marine mammals can be used as ecological tracers of their migrations and habitat use.

Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work-up: systematic review and meta-analysis.

OBJECTIVE: To assess the added value of chromosomal microarray analysis (CMA) over conventional karyotyping to assess the genetic causes in stillbirth. METHODS: To identify relevant studies, published in English or Spanish and without publication time restrictions, we performed a systematic search of PubMed, SCOPUS and ISI Web of Science databases, The Cochrane Library and the PROSPERO register of systematic reviews, for case series of fetal loss ≥ 20 weeks of gestation, with normal or suspected normal karyotype, undergoing CMA and with at least five subjects analyzed. To investigate quality, two reviewers evaluated independently the risk of bias using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool. For the meta-analysis, the incremental yield of CMA over karyotyping was assessed by single-proportion analysis using a random-effects model (weighting by inverse variance). We assessed heterogeneity between studies and performed a sensitivity analysis and a subgroup analysis of structurally abnormal (malformed or growth-restricted) and normal fetuses. RESULTS: Included in the meta-analysis were seven studies involving 903 stillborn fetuses which had normal karyotype. The test success rate achieved by conventional cytogenetic analysis was 75%, while that for CMA was 90%. The incremental yield of CMA over conventional karyotyping based on the random-effects model was 4% (95% CI, 3-5%) for pathogenic copy-number variants (pCNVs) and 8% (95% CI, 4-17%) for variants of unknown significance. Subgroup analysis showed a 6% (95% CI, 4-10%) incremental yield of CMA for pCNVs in structurally abnormal fetuses and 3% (95% CI, 1-5%) incremental yield for those in structurally normal fetuses. The pCNV found most commonly was del22q11.21. CONCLUSIONS: CMA, incorporated into the stillbirth work-up, improves both the test success rate and the detection of genetic anomalies compared with conventional karyotyping. To achieve a genetic diagnosis in stillbirth is particularly relevant for the purpose of counseling regarding future pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Valor añadido del análisis de microarrays cromosómicos sobre el cariotipado convencional en el estudio de éxitus fetal: revisión sistemática y metaanálisis OBJETIVO: Evaluar el valor añadido del análisis de microarrays cromosómicos (AMC) sobre el cariotipado convencional para evaluar las causas genéticas en el éxitus fetal. MÉTODOS: Para identificar estudios relevantes, publicados en inglés o español y sin restricciones de tiempo de la publicación, se realizó una búsqueda sistemática en las bases de datos PubMed, SCOPUS e ISI Web of Science, The Cochrane Library y el registro de revisiones sistemáticas PROSPERO, para series de casos de pérdida fetal ≥ 20 semanas de gestación, con cariotipo normal o presuntamente normal, sometidos a AMC y con al menos cinco sujetos analizados. Para investigar la calidad, dos revisores evaluaron de forma independiente el riesgo de sesgo mediante la herramienta Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2). Para el metaanálisis, se evaluó el rendimiento incremental del AMC sobre el cariotipado mediante un análisis de proporción única que empleó un modelo de efectos aleatorios (ponderación por varianza inversa). Se evaluó la heterogeneidad entre los estudios y se realizó un análisis de sensibilidad y un análisis de subgrupos de fetos estructuralmente anómalos (con malformación o con restricción del crecimiento) y normales. RESULTADOS: En el metaanálisis se incluyó siete estudios que comprendían 903 casos de éxitus fetal con cariotipo normal. La tasa de éxito de la prueba alcanzada mediante el análisis citogenético convencional fue del 75%, mientras que la del AMC fue del 90%. El rendimiento incremental del AMC sobre el cariotipado convencional en el modelo de efectos aleatorios fue del 4% (IC 95%, 3-5%) para las variantes patógenas del número de copias (VNCp) y del 8% (IC 95%, 4-17%) para las variantes de significancia desconocida. El análisis de subgrupos mostró un rendimiento incremental del AMC del 6% (IC 95%, 4-10%) para los fetos estructuralmente anormales y del 3% (IC 95%, 1-5%) para los fetos estructuralmente normales. La VNCp encontrada más comúnmente fue del22q11.21. CONCLUSIONES: El AMC, incorporado en el estudio del éxitus fetal, mejora tanto la tasa de éxito de las pruebas como la detección de anomalías genéticas en comparación con el cariotipado convencional. El diagnóstico genético en el éxitus fetal es especialmente relevante para el asesoramiento en futuros embarazos.

Fin whales as bioindicators of multi-decadal change in carbon and oxygen stable isotope shifts in the North Atlantic.

Global changes, and particularly the massive release of CO2 to the atmosphere and subsequent global warming, have altered the baselines of carbon and oxygen stable isotopic ratios. Temporal shifts in these baselines can be advantageously monitored through cetacean skin samples because these animals are highly mobile and therefore integrate in their tissues the heterogeneity of local environmental signals. In this study, we examine variation of δ13C and δ18O values in the skin of fin whales sampled over three decades in two different North Atlantic feeding grounds: west Iceland and northwest Spain. These locations are situated about 2700 km apart and thus represent a wide latitudinal range within the North Atlantic Ocean. The δ13C decrease in both areas is attributed to the burning of fossil fuels and increased deforestation worldwide, the so-called Suess effect. The dissimilarity in the magnitude of the shift between the two areas is coincidental with previous information on local shifts and lies within the ranges of variation observed. δ18O values experienced a minimal, yet significant change in fin whales from W Iceland (a decline of -0.44‰ between 1986 and 2013) but not in those from NW Spain. This is in concordance with a higher rise in temperatures in the former area than in the latter. The study validates the use of cetacean skin to monitor temporal and geographical shifts in stable isotopic values and alerts that, when applying this tool to ecological research, comparisons between sample sets should take into account temporal and latitudinal scales.

Added value of chromosomal microarray analysis over karyotyping in early pregnancy loss: systematic review and meta-analysis.

OBJECTIVE: To estimate the increased test success rate and incremental yield of chromosomal microarray analysis (CMA) over conventional karyotyping in detection of pathogenic copy number variants (CNVs) and variants of unknown significance (VOUS) in early pregnancy loss. METHOD: This was a systematic review conducted in accordance with PRISMA criteria. All articles identified in PubMed, Ovid MEDLINE and Web of Science, between January 2000 and April 2017, that described CNVs in early pregnancy losses (up to 20 weeks) were included. Risk differences were pooled to estimate the incremental yield of CMA over karyotyping overall, and after stratification. In addition, test success rate, defined as the proportion of informative results, was compared in series in which CMA and karyotyping were performed concurrently. RESULTS: Twenty-three studies, reporting on 5507 pregnancy losses up to 20 weeks with full data available, met the inclusion criteria for analysis. In the series in which CMA and karyotyping were performed concurrently, CMA showed a significant improvement in success rate, providing informative results in 95% (95% CI, 94-96%) of cases compared with karyotyping in which informative results were provided in 68% (95% CI, 66-70%) of cases. Combined data from reviewed studies revealed that incremental yields of CMA over karyotyping were 2% (95% CI, 1-2%) for pathogenic CNVs and 4% (95% CI, 3-6%) for VOUS. The most common pathogenic CNVs reported were 22q11.21 and 1p36.33 deletion. CONCLUSION: In comparison with conventional karyotyping, CMA provides a significant increase in test success rate and incremental diagnostic yield in early pregnancy loss. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Counting ovarian antral follicles by ultrasound: a practical guide.

This Consensus Opinion summarizes the main aspects of several techniques for performing ovarian antral follicle count (AFC), proposes a standardized report and provides recommendations for future research. AFC should be performed using a transvaginal ultrasound (US) probe with frequency ≥ 7 MHz. For training, we suggest a minimum of 20-40 supervised examinations. The operator should be able to adjust the machine settings in order to achieve the best contrast between follicular fluid and ovarian stroma. AFC may be evaluated using real-time two-dimensional (2D) US, stored 2D-US cine-loops and stored three-dimensional (3D) US datasets. Real-time 2D-US has the advantage of permitting additional maneuvers to determine whether an anechoic structure is a follicle, but may require a longer scanning time, particularly when there is a large number of follicles, resulting in more discomfort to the patient. 2D-US cine-loops have the advantages of reduced scanning time and the possibility for other observers to perform the count. The 3D-US technique requires US machines with 3D capability and the operators to receive additional training for acquisition/analysis, but has the same advantages as cine-loop and also allows application of different imaging techniques, such as volume contrast imaging, inversion mode and semi-automated techniques such as sonography-based automated volume calculation. In this Consensus Opinion, we make certain recommendations based on the available evidence. However, there is no strong evidence that any one method is better than another; the operator should choose the best method for counting ovarian follicles based on availability of resources and on their own preference and skill. More studies evaluating how to improve the reliability of AFC should be encouraged. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd.

Influence of Reproduction on Stable-Isotope Ratios: Nitrogen and Carbon Isotope Discrimination between Mothers, Fetuses, and Milk in the Fin Whale, a Capital Breeder.

In mammals, the influence of gestation and lactation on the tissue stable-isotope ratios of females, fetuses, and milk remains poorly understood. Here we investigate the incidence of these events on δ(13)C and δ(15)N values in fin whales sampled off northwestern Spain between 1983 and 1985. The effect of gestation on tissue stable-isotope ratios was examined in the muscle of pregnant females (n = 13) and their fetuses (n = 10) and that of lactation in the muscle of nursing females (n = 21) and their milk (n = 25). Results suggest that fetuses are enriched compared to their mothers in both (15)N (Δ(15)N = 1.5‰) and (13)C (Δ(13)C =1.1‰), while, compared to muscle, milk is enriched in (15)N (Δ(15)N = 0.3‰) but depleted in (13)C (Δ(13)C = -0.62‰). This pattern is consistent with that previously observed for other species that, like the fin whale, rely on endogenous energy during reproduction, and it substantiates a general difference in the physiological processing of nitrogen and carbon balances between income and capital breeders. These findings are relevant to the understanding of the energetic balance of mammals during gestation and lactation and are central when inferences on trophic ecology are drawn from isotopic values of reproductive females.

Recomendaciones de tromboprofilaxis en Cirugía Mayor Ambulatoria. Documento multidisciplinar de consenso de la Asociación Española de Cirugía Mayor Ambulatoria (ASECMA) / Recommendations for thromboprophylaxis in major ambulatory surgery. Multidisciplinary consensus document of the Spanish Association for Major Ambulatory Surgery (ASECMA)

La cirugía ambulatoria presenta un incremento constante, tanto en los procedimientos que se llevan a cabo como en las unidades capacitadas para su realización. Uno de los aspectos esenciales en su desarrollo es la mejoría permanente de los cuidados prequirúrgicos que reciben los pacientes. Entre ellos, ocupa un lugar destacado la profilaxis antitrombótica y, si bien la incidencia global de la enfermedad tromboembólica venosa en este grupo de pacientes no es muy elevada, se recomienda valorar en todos los pacientes los factores de riesgo trombótico personales y los relacionados con el procedimiento quirúrgico. Según esta valoración, los pacientes se podrán estratificar en bajo o moderado/alto riesgo trombótico, recomendándose aplicar las medidas de tromboprofilaxis adecuadas en cada caso: medidas generales solas o en combinación con tromboprofilaxis farmacológica y/o mecánica. En el presente documento multidisciplinar de consenso, actualización de las recomendaciones de la Asociación Española de Cirugía Mayor Ambulatoria (ASECMA) publicadas en 2011, se establecen las recomendaciones y sugerencias específicas para cada uo de los grupos de riesgo, aplicando los niveles de evidencia hallados en la literatura (AU)

In the past decade, ambulatory surgery has experienced a continuous increase, both in the types of procedures that are performed, as in the number of units qualified for outpatient surgery. One of the essential aspects in this development is the permanent improvement in the perioperative care that patients receive. In this regard, antithrombotic prophylaxis is of outstanding importance. Although the overall incidence of venous thromboembolism in these patients is not very high, the assessment of thrombosis risk factors, both personal and procedure related, is recommended. According to this risk assessment, patients may be stratified into low, moderate or high thrombotic risk categories. Therefore, thromboprophylaxis should be tailored to that risk: general measures alone, or combined with mechanical or pharmacological thromboprophylaxis. This multidisciplinary consensus document the recommendations of the Spanish Association of Major Ambulatory Surgery (ASECMA) published in 2011, and sets out evidence-based recommendations and specific suggestions for the each risk group (AU)

Variation in δ15 N and δ13 C stable isotope values in common dolphins (Delphinus spp.) worldwide, with particular emphasis on the eastern North Atlantic populations.

RATIONALE: Distinguishing population units of small cetaceans continuously distributed in a widespread area is challenging but critical for their conservation and management. The use of chemical markers allows the investigation of foraging ecology and inter-specific variability, in order to detect population structure and niche segregation in the common dolphin (Delphinus spp.). METHODS: The stable isotope ratios of carbon (δ(13)C values) and nitrogen (δ(15)N values) were measured in the bone tissue of common dolphins accidentally by-caught or stranded along the north-eastern and eastern Subtropical Atlantic Ocean, by means of continuous flow elemental analyser/isotope ratio mass spectrometry. Trophic positions were determined and compared, taking into account the local ecosystem trophic baseline for each study area. Data obtained for the study areas were qualitatively compared with those for common dolphin species/populations distributed worldwide. RESULTS: The δ(13)C and δ(15)N values were higher in the eastern Subtropical Atlantic as a consequence of the coexistence in the area of the common dolphin short- and long-beaked morphotypes. Individuals from the north-eastern Atlantic displayed lower δ(15)N values, reflecting dissimilarities in diet and variation in local isotopic baselines. Comparisons with other areas around the world suggest that the species is extremely adaptive and feeds at different trophic levels to adapt to local variations. CONCLUSIONS: Stable isotopes are a useful tool to investigate population structure and trophic niche segregation. The trophic behaviour of worldwide populations of common dolphins was fruitfully analysed and revealed substantial differences, probably reflective of both adaptive strategies of the genus and dissimilarities in the structure of the ecosystems.