Verbal episodic memory in children undergoing temporal lobe epilepsy surgery: a one-year follow-up study. / Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.

INTRODUCTION: Verbal episodic memory (VEM) is often unimpaired in children with focal epilepsy undergoing left temporal lobe resections, unlike what we might expect in the adult brain. The latter findings suggest that epileptiform activity in early life disrupts memory system lateralization, leading to the development of bilateral memory representation. The present study aims to analyze whether the laterality of epilepsy is a major predictor for post-operative VEM prognosis in pediatric temporal lobe epilepsy (TLE) surgery. This research also pretends to provide evidence about the relationship of VEM performance with other relevant demographical and clinical factors such as sex, age at onset of seizures, age at surgery and duration of epilepsy, as well as to study the impact of presurgical VEM performance on postsurgical outcomes. PATIENTS AND METHODS: Pre-operative and one-year follow-up post-operative word-list recall scores from 25 children who underwent TLE surgery (left-sided, n = 11; right-sided, n = 14) were extracted from the Hospital Sant Joan de Deu database and were retrospectively analyzed. RESULTS: No significant presurgical intergroup differences were found when comparing VEM scores by laterality of epilepsy (p > 0.5). Looking at the left TLE group, a high negative correlation was found between the onset age and the pre-operative long-term free recall score (rho = -0.72, p = 0.01). No significant pre- to post-operative intragroup changes were found regarding VEM performance, regardless of epilepsy laterality (left TLE group, p > 0.56; right TLE group, p > 0.12). CONCLUSIONS: The laterality of epilepsy does not show to be a significant factor in and of itself regarding presurgical VEM outcome and its prognosis one year after surgery, thus supporting the bilateral memory representation hypothesis. Furthermore, a younger age at onset of seizures seems to be related with a better pre-operative VEM performance, likely due to a more efficient reorganization of memory system induced by a greater brain plasticity at lower ages; however, this relationship has been only reported for the left-sided epilepsies in our sample.

TITLE: Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.Introducción. La memoria episódica verbal (MEV) no suele resultar alterada en niños con epilepsia focal sometidos a resecciones del lóbulo temporal izquierdo, a diferencia de lo que cabría esperar si se tratara de un cerebro adulto. Los últimos hallazgos sugieren que la actividad epileptógena en los primeros años de vida disrumpe la lateralización del sistema mnésico, lo que conduce al desarrollo de una representación bilateral de la memoria. El presente estudio pretende analizar si la lateralidad de la epilepsia es un predictor significativo de cara al pronóstico posquirúrgico de la MEV en la cirugía de la epilepsia del lóbulo temporal (ELT) en edad pediátrica. Esta investigación también pretende aportar evidencias sobre la relación de la MEV con otros factores demográficos y clínicos relevantes, como el sexo, la edad de inicio de las crisis, la edad quirúrgica y la duración de la epilepsia, así como estudiar el impacto del rendimiento prequirúrgico en la MEV sobre los resultados posquirúrgicos. Pacientes y métodos. Se extrajeron de la base de datos del Hospital Sant Joan de Déu y se analizaron retrospectivamente las puntuaciones prequirúrgicas y al año de seguimiento postoperatorio de una tarea de recuerdo de lista de palabras correspondientes a 25 niños intervenidos de ELT (ELT izquierdo, n = 11; ELT derecho, n = 14). Resultados. No se encontraron diferencias intergrupales prequirúrgicas significativas al comparar las puntuaciones en MEV sobre la base de la lateralidad de la epilepsia (p > 0,5). En cuanto al grupo de ELT izquierdo, se encontró una alta correlación negativa entre la edad de inicio y la puntuación prequirúrgica del recuerdo libre a largo plazo (rho = ­0,72; p = 0,01). No se encontraron cambios intragrupo significativos entre el pre- y el postoperatorio en relación con el rendimiento en la MEV, independientemente de la lateralidad de la epilepsia (grupo de ELT izquierdo, p > 0,56; grupo de ELT derecho, p > 0,12). Conclusiones. La lateralidad de la epilepsia no parece ser un factor significativo por sí solo en relación con el rendimiento prequirúrgico en la MEV y su pronóstico un año después de la cirugía, lo que apoya la hipótesis de una representación bilateral de la memoria. Además, una edad más temprana al inicio de las crisis parece estar relacionada con un mejor resultado preoperatorio en la MEV, probablemente debido a una reorganización más eficiente del sistema de memoria inducida por una mayor plasticidad cerebral en edades más bajas; sin embargo, esta relación sólo se ha observado en nuestra muestra para las epilepsias de lateralidad izquierda.

Improving the efficiency of Y-chromosome detection and the quality of STR typing in forensic casework with an in-house made qPCR and HRM system based on SYTO™ 9 chemistry.

DNA quantification prior to STR amplification is a crucial step in forensic casework. Obtaining good-quality genetic STR profiles depends mainly on the amount and integrity of the DNA input in the PCR. In addition, the detection of male trace DNA provides key information for forensic investigation. AIM: To evaluate the correlation between the quantification results obtained with the previously developed Amel-Y system, and its ability to detect Y-chromosome DNA by HRM, with the resulting STR profiles, and to ultimately show that Amel-Y can be routinely used in forensic casework to improve STR and Y-STR results. MATERIAL & METHODS: Biological samples derived from forensic casework (85 reference and 391 evidence samples) were quantified by the Amel-Y system (a duplex qPCR/HRM based on SYTO™ 9 chemistry) using Rotor-Gene 6000. STRs were amplified and analyzed with GeneAmp™ PCR System 9700 or Veriti™ Thermal Cyclers and ABI 3500 Genetic Analyzer, respectively. RESULTS: After DNA normalization, a total of 386 STR profiles were obtained (305 full and 81 partial). Sex typing by HRM was 100% successful in reference samples. Male DNA was detected by HRM in 210 evidence samples. 80/201 were mixed with an excess of female DNA. In addition, Amel-Y was able to detect Y-chromosome DNA in mixed samples that did not amplify the Y-variant of Amelogenin marker with commercial STR kits. The reproducibility and precision of the Amel-Y system were demonstrated (CVCt% ≤ 9.55) within the dynamic range analyzed (0.016-50 ng/µL; 41 independent runs). Amel-Y also proved to be compatible with other real-time PCR platforms. CONCLUSION: We demonstrated that Amel-Y is a robust quantification system that can be routinely used in forensic casework to obtain reliable autosomal STR profiles and can be suitable as a predictor for Y-STR typing success when male DNA is detected. HRM can be used as a rapid screening tool for male DNA detection in mixed samples. Alternative designs like Amel-Y offer independence from commercial quantification kits in forensic labs.

Three mutations at a Y-STR haplotype defy a paternal half-brothers kinship case analysis.

This work presents the results of a DNA test aimed to determine a possible biological link of paternal half brotherhood of two males. The combined use of biparentally inherited markers (autosomal STRs) and a panel of 27 Y-STRs allowed us to determine the existence of a biological relationship of kinship, even after detecting three mutations at their Y-STR haplotypes along the analyses, constituting an infrequent multiple mutation situation. This case is an example illustrating the importance of having different analytical markers sets and strategies for clarifying complex kinship cases where mutations occur.

Clinical presentation and prognosis of COVID-19 in older adults with hypothyroidism: data from the GeroCovid observational study.

BACKGROUND: The prevalence of hypothyroidism among older patients hospitalized for COVID-19 and its association with mortality is unclear. This study aims to investigate the prevalence of hypothyroidism in older COVID-19 inpatients and verify if this comorbidity is associated with a specific pattern of onset symptoms and a worse prognosis. METHODS: COVID-19 inpatients aged ≥ 60 years, participating in the GeroCovid acute wards cohort, were included. The history of hypothyroidism was derived from medical records and the use of thyroid hormones. Sociodemographic data, comorbidities, symptoms/signs at the disease onset and inflammatory markers at ward admission were compared between people with vs without history of hypothyroidism. The association between hypothyroidism and in-hospital mortality was tested through Cox regression. RESULTS: Of the 1245 patients included, 8.5% had a history of hypothyroidism. These patients were more likely to present arterial hypertension and obesity compared with those without an history of hypothyroidism. Concerning COVID-19 clinical presentation, patients with hypothyroidism had less frequently low oxygen saturation and anorexia but reported muscle pain and loss of smell more commonly than those without hypothyroidism. Among the inflammatory markers, patients with hypothyroidism had higher lymphocytes values. At Cox regression, hypothyroidism was associated with reduced in-hospital mortality only in the univariable model (HR = 0.66, 95% CI 0.45-0.96, p = 0.03); conversely, no significant result were observed after adjusting for potential confounders (HR = 0.69, 95% CI 0.47-1.03, p = 0.07). CONCLUSIONS: Hypothyroidism does not seem to substantially influence the prognosis of COVID-19 in older people, although it may be associated with peculiar clinical and biochemical features at the disease onset.

Highly selective recovery of Ni(II) in neutral and acidic media using a novel Ni(II)-ion imprinted polymer.

In this work, an original ion-imprinted polymer (IIP) was synthetized for the highly selective removal of Ni(II) ions in neutral and acidic media. First a novel functional monomer (AMP-MMA) was synthetized through the amidation of 2-(aminomethyl)pyridine (AMP) with methacryloylchloride. Following Ni(II)/AMP-MMA complex formation study, the Ni(II)-IIP was produced via inverse suspension polymerization (DMSO in mineral oil) and characterized with solid state 13C CPMAS NMR, FT-IR, SEM and nitrogen adsorption/desorption experiments. The Ni(II)-IIP was then used in solid-phase extraction of Ni(II) exploring a wide range of pH (from neutral to strongly acidic solution), several initial concentrations of Ni(II) (from 0.02 to 1 g/L), and the presence of competitive ions (Co(II), Cu(II), Cd(II), Mn(II), and Mg(II)). The maximum Ni(II) adsorption capacity at pH 2 and pH 7 reached values of 138.9 mg/g and 169.5 mg/g, that are among the best reported in literature. The selectivity coefficients toward Cd(II), Mn(II), Co(II), Mg(II) and Cu(II) are also very high, with values up to 38.6, 32.9, 25.2, 23.1 and 15.0, respectively. The Ni(II)-IIP showed good reusability of up to 5 cycles both with acidic and basic Ni(II) eluents.

Newly initiated carbon stock, organic soil accumulation patterns and main driving factors in the High Arctic Svalbard, Norway.

High latitude organic soils form a significant carbon storage and deposition of these soils is largely driven by climate. Svalbard, Norway, has experienced millennial-scale climate variations and in general organic soil processes have benefitted from warm and humid climate phases while cool late Holocene has been unfavourable. In addition to direct effect of cool climate, the advancing glaciers have restricted the vegetation growth, thus soil accumulation. Since the early 1900's climate has been warming at unprecedented rate, assumingly promoting organic soil establishment. Here we present results of multiple organic soil profiles collected from Svalbard. The profiles have robust chronologies accompanied by soil property analyses, carbon stock estimations and testate amoeba data as a proxy for soil moisture. Our results reveal relatively recent initiation of organic soils across the Isfjorden area. The initiation processes could be linked to glacier retreat, and improvement of growing conditions and soil stabilization. Carbon stock analyses suggested that our sites are hot spots for organic matter accumulation. Testate amoebae data suggested drying of soil surfaces, but the reason remained unresolved. If continued, such a process may lead to carbon release. Our data suggest that detailed palaeoecological data from the Arctic is needed to depict the on-going processes and to estimate future trajectories.

Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.

BACKGROUND: Knowledge regarding neuropsychological training in Rett syndrome (RS) is scarce. The aim of this study was to assess the outcome and the duration of the effect of cognitive stimulation on topographic electroencephalography (EEG) data in RS. METHODS: Twenty female children diagnosed with RS were included in the analysis. Girls with RS conducted a cognitive task using an eye-tracker designed to evaluate access and choice skills. EEG data were acquired during the experimental procedure including two 10-min baseline stages before and after the task. Topographical changes of several EEG spectral markers including absolute and relative powers, Brain Symmetry Index and entropy were assessed. RESULTS: Topographic significance probability maps suggested statistical decreases on delta activity and increases on beta rhythm associated with the cognitive task. Entropy increased during and after the task, likely related to more complex brain activity. A significant positive interaction was obtained between Brain Symmetry Index and age showing that the improvement of interhemispheric symmetry was higher in younger girls (5-10 years). CONCLUSIONS: According to our findings, significant alterations of brain rhythms were observed during and after cognitive stimulation, suggesting that cognitive stimulation may have effects on brain activity beyond the stimulation period. Finally, our promising results also showed an increase brain symmetry that was especially relevant for the younger group. This could suggest an interaction of the eye-tracking cognitive task; however, further studies in this field are needed to assess the relation between brain asymmetries and age.

Ancestral genetic legacy of the extant population of Argentina as predicted by autosomal and X-chromosomal DIPs.

Aiming to determine their ancestry diagnostic potential, we selected two sets of nuclear deletion/insertion polymorphisms (DIPs), including 30 located on autosomal chromosomes and 33 on the X chromosome. We analysed over 200 unrelated Argentinean individuals living in urban areas of Argentina. As in most American countries, the extant Argentinean population is the result of tricontinental genetic admixture. The peopling process within the continent was characterised by mating bias involving Native American and enslaved African females and European males. Differential results were detected between autosomal DIPs and X-DIPs. The former showed that the European component was the largest (77.8%), followed by the Native American (17.9%) and African (4.2%) components, in good agreement with the previously published results. In contrast, X-DIPs showed that the European genetic contribution was also predominant but much smaller (52.9%) and considerably larger Native American and African contributions (39.6% and 7.5%, respectively). Genetic analysis revealed continental genetic contributions whose associated phenotypic traits have been mostly lost. The observed differences between the estimated continental genetic contribution proportions based on autosomal DIPs and X-DIPs reflect the effects of autosome and X-chromosome transmission behaviour and their different recombination patterns. This work shows the ability of the tested DIP panels to infer ancestry and confirm mating bias. To the best of our knowledge, this is the first study focusing on ancestry-informative autosomal DIP and X-DIP comparisons performed in a sample representing the entire Argentinean population.

[Prognostic factors and profile in traumatic brain injury in the paediatric age]. / Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica.

INTRODUCTION: Traumatic brain injury (TBI) is a common cause of death and disability in the paediatric population, although the literature on the Spanish population is scarce. From the perspective of early vulnerability, recent research findings suggest that early brain injury has worse sequelae and a higher risk of impact. AIMS: To analyse the intelligence profile, executive functions and behaviour, and examine the association between age at the time of the injury, severity of the TBI and environmental factors for cognitive and behavioural outcomes. PATIENTS AND METHODS: Seventy-one participants with moderate to severe TBI, from 6 to 16 years of age, were assessed with measures of intelligence (intelligence quotient), executive functions and behaviour. RESULTS: Children with TBI are at increased risk of disability in all aspects of intelligence, executive functions and behaviour. Children who suffered a traumatic brain injury in infancy and the preschool period had more overall effects on intelligence quotient and some aspects of the executive functions. CONCLUSIONS: Socioeconomic and cultural factors are the best predictors for intelligence quotient and behaviour. These findings contribute to a better understanding of the sequelae of TBI in children, which will help in rehabilitation planning and re-adaptation to functional life.

TITLE: Perfil y factores pronósticos en el traumatismo craneoencefálico en la edad pediátrica.Introducción. El traumatismo craneoencefálico (TCE) es una causa común de muerte y discapacidad en la población pediátrica, aunque la bibliografía en población española sea escasa. Desde la perspectiva de la vulnerabilidad temprana, los hallazgos de investigaciones recientes sugieren que la lesión cerebral temprana tiene peores secuelas y un mayor riesgo de impacto. Objetivos. Analizar el perfil de la inteligencia, las funciones ejecutivas y el comportamiento, y examinar la asociación de la edad a la lesión, la gravedad del TCE y los factores ambientales para los resultados cognitivos y conductuales. Pacientes y métodos. Setenta y un participantes con TCE moderado a grave, con edades entre 6 y 16 años, fueron evaluados con medidas de inteligencia (cociente intelectual), funciones ejecutivas y comportamiento. Resultados. Los niños con TCE tienen un mayor riesgo de discapacidad en todos los aspectos de inteligencia, funciones ejecutivas y comportamiento. Los niños que sufrieron una lesión cerebral traumática en la infancia y preescolar registraron más efectos globales en el cociente intelectual y algunos aspectos de las funciones ejecutivas. Conclusiones. Los factores socioeconómicos y culturales son los mejores predictores para el cociente intelectual y el comportamiento. Estos hallazgos contribuyen a una mejor comprensión de las secuelas de TCE en los niños para ayudar en la planificación de rehabilitación y la readaptación a la vida funcional.

Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury. / Eficacia de una nueva intervencion de apoyo a padres y escuelas despues de un traumatismo craneoencefalico moderado o grave.

INTRODUCTION: Traumatic brain injury is a common cause of acquired disability during childhood. Early interventions focusing on parenting practices may prove effective at reducing negative child outcomes. AIM: To determine the efficacy of a new counselling program aimed at parents and schools compared to a control group. PATIENTS AND METHODS: The main study sample was obtained from a paediatric hospital. The final sample consisted of 42 children aged between 6 and 16 years old. RESULTS: Comparing with normative data, pre-post comparisons between groups showed a significant improvement in the parent group with respect to the control group. CONCLUSIONS: The superiority of the parental intervention group over those of the control group was not only statistically significant, but also clinically substantial and meaningful. The results of this study suggest that children with moderate to severe traumatic brain injury can benefit from an intensive supported family treatment.

TITLE: Eficacia de una nueva intervencion de apoyo a padres y escuelas despues de un traumatismo craneoencefalico moderado o grave.Introduccion. El traumatismo craneoencefalico es una causa habitual de discapacidad adquirida durante la infancia. Las intervenciones tempranas que se centran en la participacion de los padres pueden resultar efectivas para reducir las disfunciones del niño. Objetivo. Determinar la eficacia de un nuevo programa de asesoramiento dirigido a padres y escuelas en comparacion con un grupo control. Pacientes y metodos. La muestra principal del estudio se obtuvo de un hospital pediatrico. La muestra final consistio en 42 niños de 6 a 16 años. Resultados. Comparando con los datos normativos, las comparaciones pre y post intragrupos mostraron una mejora significativa en el grupo de intervencion parental con respecto al grupo control. Conclusiones. La superioridad del grupo de intervencion parental sobre el grupo control no solo fue estadisticamente significativa, sino tambien clinicamente sustancial y relevante. Los resultados del estudio sugieren que los niños con traumatismo craneoencefalico moderado o grave pueden beneficiarse de un tratamiento familiar intensivo de apoyo.

Development of a defined approach for eye irritation or serious eye damage for neat liquids based on cosmetics Europe analysis of in vitro RhCE and BCOP test methods.

The focus of Cosmetics Europe's ocular toxicity programme is on development of testing strategies and defined approaches for identification of ocular effects of chemicals in the context of OECD's Guidance Document on an Integrated Approach on Testing and Assessment (IATA) for Serious Eye Damage and Eye Irritation. Cosmetics Europe created a comprehensive database of chemicals for which in vitro data are available with corresponding historical in vivo Draize eye data and physicochemical properties. This database allowed further exploration of the initially proposed strategies from the CON4EI project and to identify opportunities for refinement. One key outcome of this project is that combining in vitro test methods (RhCE and BCOP LLBO) with physicochemical properties in a two-step Bottom-Up approach applicable to neat liquids, resulted in an improvement of the specificity, without reducing the sensitivity, when compared to the combination of in vitro methods alone. The Bottom-Up approach proposed here for neat liquids correctly predicted 58.3% (EpiOcular™ EIT followed by BCOP LLBO) to 62.6% (SkinEthic™ HCE EIT followed by BCOP LLBO) of No Cat., 59.1% to 68.7% of Cat. 2, and 76.5% of Cat. 1. Incorporating specific physicochemical properties with this Bottom-Up approach increased the correct identification of No Cat. neat liquids to between 72.7% and 79.7%.

Development of a defined approach for eye irritation or serious eye damage for liquids, neat and in dilution, based on cosmetics Europe analysis of in vitro STE and BCOP test methods.

The focus of Cosmetics Europe's programme on serious eye damage/eye irritation is on development of testing strategies and defined approaches for identification of ocular effects of chemicals in the context of OECD's Guidance Document on an Integrated Approach on Testing and Assessment (IATA) for Serious Eye Damage and Eye Irritation. Cosmetics Europe created a comprehensive database of chemicals for which in vitro data are available with corresponding historical in vivo Draize eye data. This database allowed further exploration of the initially proposed strategies from the CON4EI project and to identify opportunities for refinement. The current analysis focused on the development of a defined approach, applicable to liquid non-surfactant chemicals, neat and in dilution, that can distinguish between the three UN GHS categories (Cat. 1, Cat. 2, and No Cat.). Combining the modified-protocol Short Time Exposure (STE) test method (OECD TG 491 with extension to highly volatile substances) with the Bovine Corneal Opacity and Permeability Laser Light-Based Opacitometer (BCOP LLBO) test method in a Bottom-Up approach identified 81.2% Cat. 1, 56.3% Cat. 2, and 85.3% No. Cat correctly, with an NPV of 96.7% and a PPV of 68.6%. Therefore, the performance of the defined approach was better than the standalone test methods.

Demand for larger Y-STR reference databases in ethnic melting-pot countries: Argentina as a test case.

The Y chromosome behaves as a single locus. Its genetic information is useful in forensic casework, deficiency kinship testing, and population genetics studies. Continuous increases of loci number within commercial kits forced modification of worldwide reference databases. In Pan American countries, like Argentina, diverse parental ethnic groups contributed to the extant admixed urban populations. We report 509 additional haplotypes of 23 Y-STRs from donors inhabiting urban areas of six Argentinean provinces: Buenos Aires, Santiago del Estero, Santa Cruz, Rio Negro, Santa Fe, and Formosa. To better understand the demographic landscape of the admixed urban paternal lineages, structural analysis was performed using published data from other Argentinean provinces. AMOVA by Rst distance and inferred haplogroups by two predictive online software methods based on haplotypes yielded complementary results with respect to detected population structure, probably due to the different proportions of the Native American Q3-M3 haplogroup in the studied samples. This situation, which is common to most North, Meso, and South American countries, underscores the need for the additional step of typing specific SNPs for haplogroup diagnosis. We propose organizing Y-STR haplotype reference databases according to the most frequent haplogroups detected in a given admixed population.

Absorption and diffusion of a 645 nm diode laser beam in the bone. An ex vivo study.

The present preliminary ex vivo study aims to assess the possible interaction between complex biological systems and laser light, through irradiation of different hard tissue samples. A 645 nm wavelength diode laser was adopted to perform the present evaluation. Due to known similarities to human tissues, swine tissue samples were used. Two samples of cortical bone measuring 4.4 mm and 4.7 mm of thickness and 2 samples of spongeous bone measuring 2.45 mm and 2.9 mm were harvested for the analysis of hard tissues. Mean absorption values were as follows: 128.82 mW standard deviation 8.74 for 2.45 mm spongeous bone sample; 132.34 mW standard deviation 7.66 for 2.9 mm spongeous bone sample; 140.59 mW standard deviation 5.97 for 4.4 mm cortical bone sample and 152.20 mW standard deviation 3.36 for 4.7 mm mucosa and cortical bone sample. Red-light laser with 645nm wavelength has the ability to reach cells in each layer of measured tissues.

Human DNA degradation assessment and male DNA detection by quantitative-PCR followed by high-resolution melting analysis.

We developed a q-PCR technique that simultaneously evaluates the extent of degradation and determines the gender of a human DNA donor. QYDEG HRM is a triplex real-time PCR whose products are analysed by high-resolution melting (HRM). The system produces three amplicons: (1) transducin (beta)-like 1, Y-linked (TBL1Y) (84bp); (2) large-target sequence (DGlt) (244bp); and (3) small-target sequence (DGst) (152bp). After HRM analysis, three melting peaks are detected in male DNA samples and two in female DNA samples. An imbalance between the DGst and DGlt melting peak heights allows for the estimation of the extent of DNA degradation. For sensitivity assessment, triplicate aliquots of 0.0032 to 50ng/µL DNA were tested, denoting good linearity and reproducibility. The results also showed the analysis to be precise and accurate in the DNA range of 0.04-5ng/µL. Diverse types of DNA samples were tested: experimentally heat-degraded DNA; crime scene samples derived from casework and highly degraded samples with partial STR profiles from corpse material and mass disaster events. The results were compared with those obtained from the Plexor® and PowerQuant® commercial kits. Additionally, the quantification results of the QYDEG HRM triplex correlate well with the STR amplification that was subsequently obtained. The method is simple, cost-effective and helpful for determining the DNA integrity and the sex of a sample donor in any field where human DNA quantification is required.

GHEP-ISFG collaborative exercise on mixture profiles (GHEP-MIX06). Reporting conclusions: Results and evaluation.

One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, six exercises have been organized. At the present edition (GHEP-MIX06), with 25 participant laboratories, the exercise main aim was to assess mixture profiles results by issuing a report, from the proposal of a complex mock case. One of the conclusions obtained from this exercise is the increasing tendency of participating laboratories to validate DNA mixture profiles analysis following international recommendations. However, the results have shown some differences among them regarding the edition and also the interpretation of mixture profiles. Besides, although the last revision of ISO/IEC 17025:2017 gives indications of how results should be reported, not all laboratories strictly follow their recommendations. Regarding the statistical aspect, all those laboratories that have performed statistical evaluation of the data have employed the likelihood ratio (LR) as a parameter to evaluate the statistical compatibility. However, LR values obtained show a wide range of variation. This fact could not be attributed to the software employed, since the vast majority of laboratories that performed LR calculation employed the same software (LRmixStudio). Thus, the final allelic composition of the edited mixture profile and the parameters employed in the software could explain this data dispersion. This highlights the need, for each laboratory, to define through internal validations its criteria for editing and interpreting mixtures, and to continuous train in software handling.

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.

Primary mediastinal large B-cell lymphoma: Outcome of a series of pediatric patients treated with high-dose methotrexate and cytarabine plus anti-CD20.

Between 2007 and 2013, 13 children diagnosed with primary mediastinal large B-cell lymphoma (PMLBL) were treated according to a modified version of AIEOP (Associazione Italiana Ematologia Oncologia Pediatrica) LNH-97 protocol based on high-dose methotrexate, anthracyclines, and addition of anti-CD20. Ten patients achieved a continuous complete remission with front-line therapy. The overall 5-year survival was 91.7%, and event-free survival was 83.9%, with only one patient dying of progressive disease. Despite the few cases, these results demonstrate that this therapy, which includes anti-CD20, given in a multicenter setting, is feasible with acceptable toxicity in children with PMLBL.

Non-canonical WNT/PCP signalling in cancer: Fzd6 takes centre stage.

Frizzled receptors are the mediators of the wnt canonical and non-canonical pathways, which play fundamental roles in cell differentiation and organism development. A large body of work indicates that dysregulation of wnt signalling is a feature of oncogenic transformation, but most of the studies published so far focus on the assessment of the consequences of aberrations of the canonical pathway in human cancer. In this review, we discuss the emerging role of the wnt non-canonical pathway regulated by frizzled receptor 6 (Fzd6) in the pathogenesis of different types of human malignancies. The function played by Fzd6 in the physiology of normal and cancer cells has been highlighted in the view that an increased knowledge of the signalling pathways upstream and downstream of this receptor could ultimately result in the identification of new targets for cancer therapy.