Search

Objective: This study was undertaken to refine the spectrum of SCN1A epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize antiseizure management by correlating phenotype–genotype relationship and functional consequences of SCN1A variants in a cohort of patients. Methods: Sixteen probands carrying SCN1A pathogenic variants were ascertained via a national collaborative network. We also performed a literature review including individuals with SCN1A variants causing non‐DS and non‐GEFS+ phenotypes and compared the features of the two cohorts. Whole cell patch clamp experiments were performed for three representative SCN1A pathogenic variants. Results: Nine of the 16 probands (56%) had de novo pathogenic variants causing developmental and epileptic encephalopathy (DEE) with seizure onset at a median age of 2 months and severe intellectual disability. Seven of the 16 probands (54%), five with inherited and two with de novo variants, manifested focal epilepsies with mild or no intellectual disability. Sodium channel blockers never worsened seizures, and 50% of patients experienced long periods of seizure freedom. We found 13 SCN1A missense variants; eight of them were novel and never reported. Functional studies of three representative variants showed a gain of channel function. The literature review led to the identification of 44 individuals with SCN1A variants and non‐DS, non‐GEFS+ phenotypes. The comparison with our cohort highlighted that DEE phenotypes are a common feature. Significance: The boundaries of SCN1A disorders are wide and still expanding. In our cohort, >50% of patients manifested focal epilepsies, which are thus a frequent feature of SCN1A pathogenic variants beyond DS and GEFS+. SCN1A testing should therefore be included in the diagnostic workup of pediatric, familial and nonfamilial, focal epilepsies. Alternatively, non‐DS/non‐GEFS+ phenotypes might be associated with gain of channel function, and sodium channel blockers could control seizures by counteracting excessive channel function. Functional analysis evaluating the consequences of pathogenic SCN1A variants is thus relevant to tailor the appropriate antiseizure medication. [ABSTRACT FROM AUTHOR]

Keywords: anaphylaxis; eliciting dose; food allergy; precautionary allergen labelling; reference dose; thresholds EN anaphylaxis eliciting dose food allergy precautionary allergen labelling reference dose thresholds 1661 1666 6 05/31/22 20220601 NES 220601 The disclosure of "priority" allergens when present as an (intended) ingredient in foods is, in most countries, enshrined in legislation. Are current analytical methods suitable to verify VITAL ® 2.0/3.0 allergen reference doses for EU allergens in foods? Summary report of the Ad hoc Joint FAO/WHO expert consultation on risk assessment of food allergens. part 2: review and establish threshold levels in foods of the priority allergens. "Too high, too low": The complexities of using thresholds in isolation to inform precautionary allergen ("may contain") labels. [Extracted from the article]

This study describes two new endemic Hypostomus species from central Brazil, which were previously identified as genetically distinct lineages in a recent genomic study that recommended their testing and potential description based on morphological data. A machine learning classification procedure (random forest) was used to investigate morphological variation and identify putatively diagnostic characters for these candidate species and revealed that each is morphologically distinct. The new species Hypostomus cafuringa is characterized by small size, dark spots under a light background, deeper caudal peduncle and shorter first ray of the pectoral fin and base of the dorsal fin when compared to congeneric species from the region. H. cafuringa is known from the headwaters of the Maranhão River, upper Tocantins River basin, Distrito Federal, Brazil. The second new species, Hypostomus crulsi, is characterized by dark spots under a light background, absence of plates along the abdomen region, shorter first ray of the pelvic fin, shorter first ray of the pectoral fin and smaller body size. H. crulsi is known from the headwaters of the São Bartolomeu River, upper Paraná River basin, Distrito Federal, Brazil. The rapid conversion of natural habitats for agricultural development and the isolation of protected areas represent a serious threat to the continued existence of these two newly described endemic species, which warrant conservation assessment. [ABSTRACT FROM AUTHOR]

To mitigate climate change, CO2 sequestration from the atmosphere is being considered as a method to reduce its greenhouse effect and subsequently lower the Earth's surface temperature. A promising approach is the storage of CO2 in minerals, of which Olivine is a promising candidate due to its Earth abundance and high CO2 absorption capacity, which is of the order of 50 wt.%. A bottleneck for Olivine carbonation is the slow reaction rate at ambient conditions, which previously resulted in supplying CO2 at extreme pressures and temperatures to force carbonation. In this study, nanoscale Olivine particles are fabricated, which due to their high surface‐to‐volume ratio, reach a very high carbonation conversion at a time scale of minutes at ambient conditions. The carbonation is measured by X‐ray photoelectron spectroscopy (XPS), which yielded both the presence of carbonates as well as information on the Olivine oxidation state, in agreement with electron diffraction analysis. This work forms the basis for employing Olivine nanoparticles, as fabricated by the relatively simple method of magnetron sputtering, to capture CO2 from the atmosphere at economic conditions. [ABSTRACT FROM AUTHOR]

Graphene is regarded as a viable bio-interface for neuroscience due to its biocompatibility and electrical conductivity, which would contribute to efficient neuronal network signaling. Here, monolayer graphene grown via chemical vapor deposition is treated with remote hydrogen plasma to demonstrate that hydrogenated graphene (HGr) fosters improved cell-to-cell communication with respect to pristine graphene in primary cortical neurons. When transferred to polyethylene terephthalate, HGr exhibits higher wettability than graphene (water contact angle of 83.7° vs 40.7°), while preserving electrical conductivity (≈3 kΩ -1). A rich and mature network is observed to develop onto HGr. The intrinsic excitability and firing properties of neurons plated onto HGr appears unaltered, while the basic passive and active membrane properties are fully preserved. The formation of excitatory synaptic connections increases in HGr with respect to pristine graphene, leading to a doubled miniature excitatory postsynaptic current frequency. This study supports the use of hydrogenation for tailoring graphene into an improved neuronal interface, indicating that wettability, more than electrical conductivity, is the key parameter to be controlled. The use of HGr can bring about a deeper understanding of neuronal behavior on artificial bio-interfaces and provide new insight for graphene-based biomedical applications. [ABSTRACT FROM AUTHOR]

Atomic force microscopy (AFM) is a powerful tool to investigate interaction forces at the micro and nanoscale. Cantilever stiffness, dimensions and geometry of the tip can be chosen according to the requirements of the specific application, in terms of spatial resolution and force sensitivity. Colloidal probes (CPs), obtained by attaching a spherical particle to a tipless (TL) cantilever, offer several advantages for accurate force measurements: tunable and well‐characterisable radius; higher averaging capabilities (at the expense of spatial resolution) and sensitivity to weak interactions; a well‐defined interaction geometry (sphere on flat), which allows accurate and reliable data fitting by means of analytical models. The dynamics of standard AFM probes has been widely investigated, and protocols have been developed for the calibration of the cantilever spring constant. Nevertheless, the dynamics of CPs, and in particular of large CPs, with radius well above 10 μm and mass comparable, or larger, than the cantilever mass, is at present still poorly characterized. Here we describe the fabrication and calibration of (large) CPs. We describe and discuss the peculiar dynamical behaviour of CPs, and present an alternative protocol for the accurate calibration of the spring constant. [ABSTRACT FROM AUTHOR]

Background: Allergy to Peanuts ImPacting Emotions And Life (APPEAL‐1) was a recent European multi‐country questionnaire survey that highlighted the negative impacts of peanut allergy (PA) on quality of life. A follow‐on qualitative study, APPEAL‐2, further assessed the burden of PA and associated coping strategies through semi‐structured interviews. Objective: To gain qualitative insight on the strategies used to cope with and manage PA and the impact of these strategies on the quality of life of children, teenagers and caregivers. Methods: This cross‐sectional qualitative study was conducted in eight European countries: the United Kingdom, France, Germany, Ireland, Spain, Italy, Denmark and the Netherlands. Semi‐structured interviews were conducted with children (aged 8‐12 years) and teenagers (aged 13‐17 years) with self‐/proxy‐reported moderate or severe PA and with parents/caregivers of children or teenagers (aged 4‐17 years) with moderate or severe PA. Data were analysed using thematic analysis; data saturation was assessed. Two conceptual models were developed to illustrate the impacts of PA and coping strategies used to manage them for (a) individuals with PA and (b) parents/caregivers of children with PA. Results: 107 participants were interviewed: 24 children, 39 teenagers and 44 caregivers. The conceptual models illustrated themes related to coping and control, driven by the fear of PA reactions, and the associated emotional, social, relationship and work impacts. Factors moderating these impacts included social attitudes and support, child‐caregiver relationship and coping strategies used. Conclusions and Clinical Relevance: The APPEAL‐2 results substantiate the findings of APPEAL‐1; the results also suggest that the severity of experience with PA may not correlate with perception of its overall burden and show variable impacts by country. [ABSTRACT FROM AUTHOR]

The identification of the mechanisms underlying patterns of species co‐occurrence is a way to identify which process(es) (niche, neutral, or both) structure metacommunities. The current paper had the goal of identifying patterns of co‐occurrence in Neotropical stream fish and determining which processes structure the fish metacommunity, and identifying any gradients underlying this structure. Results indicated that the metacommunity formed by the species pool was structured by a pattern of nested co‐occurrence (hyperdispersed species loss) and a mass‐effect mechanism. However, a set of core species, displaying a Clementsian pattern, was structured by a species‐sorting mechanism. Both, hyperdispersed species loss and the Clementsian patterns point to a discrete set of communities within the metacommunity. These communities could be isolated by the water physicochemical conditions or morphological characteristics of the stream channel. [ABSTRACT FROM AUTHOR]

Background: Peanut allergy (PA) is associated with marked quality‐of‐life (QoL) impairment. However, data are lacking on the experience and impact of living with PA from the perspectives of persons with PA (PwPA) and their caregivers. Allergy to Peanuts imPacting Emotions And Life study 1 (APPEAL‐1) was a pan‐European survey investigating these perspectives. This first of two articles reports clinical characteristics of PwPA and PA management practices. Methods: APPEAL‐1 was a quantitative, online survey conducted in eight European countries, developed by eight representatives of patient advocacy groups and five healthcare professionals and researchers. Eligible participants included adults with PA and parents/caregivers of PwPA who responded by self‐report and provided proxy‐report for the PwPA under their care. Data were summarized using nonweighted descriptive statistics. Results: Of 1846 completed/analysed questionnaires, 528 were from adults with PA (self‐report); 437 by proxy for children with PA (34 aged 0‐3 years, 287 aged 4‐12 years, 116 aged 13‐17 years) and 881 from parents/caregivers (self‐report). Of PwPA (N = 965), 95% reported diagnosis by healthcare professionals, mostly by clinical history and peanut‐specific allergy testing. Rates of allergic rhinitis, asthma and other food allergies in PwPA were 50%, 42% and 79%, respectively. Only 31% of PwPA received HCP advice/support following their worst allergic reaction, and 28% had not been prescribed an adrenaline auto‐injector. Results were similar by country but varied by age group. Conclusions: The APPEAL‐1 findings contribute to greater understanding of PA impact on PwPA, caregivers and family members and the need for improved PA management across Europe. [ABSTRACT FROM AUTHOR]

Background: Peanut allergy (PA) is a common, potentially life‐threatening and typically lifelong condition with a significant burden of illness. However, information is lacking on how persons with PA (PwPA) and their caregivers perceive the psychosocial impact of living with PA. The Allergy to Peanuts imPacting Emotions And Life 1 (APPEAL‐1) survey, conducted across Europe, investigated the experience and impact of living with PA. Here, we report data evaluating the psychosocial impact of PA on PwPA and their caregivers. Methods: Allergy to Peanuts imPacting Emotions And Life study 1 was an online survey conducted in eight European countries. Representatives of eight patient advocacy groups and five healthcare‐research specialists developed the survey. Eligible respondent groups included the following: adults diagnosed with PA (self‐report); parent/nonparent caregivers (proxy‐report for a child with PA); and parent/nonparent caregivers (self‐report of PA impact on themselves). Results: Of 1846 total study respondents, 419 were adults with PA (self‐report); 546 were parents/caregivers (proxy‐report); and 881 were parents/caregivers (self‐report). Most respondents reported lifestyle restrictions regarding food (84%‐93%) and additional domains including parties and socializing, holiday activities and destinations, and taking public transport (53%‐89%). Approximately 40% rated themselves as "very" frustrated and "very" stressed. Two‐thirds (65%) felt socially isolated; 43% were bullied. Less than half felt confident in knowing when to use an adrenaline autoinjector. Several intercountry differences were observed such as high levels of uncertainty and stress in respondents from Ireland, highest rates of anxiety in respondents from Germany, and social exclusion and isolation most common in respondents from France. Conclusions: Peanut allergy imposes an adverse psychosocial impact on patients and caregivers, leading to frustration, stress and isolation. Attention to the impact of PA is needed in research and clinical practice to improve PA healthcare and public education programmes. [ABSTRACT FROM AUTHOR]

Myeloproliferative neoplasms are divided into essential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF). Although ruxolitinib was proven to be effective in reducing symptoms, patients rarely achieve complete molecular remission. Therefore, it is relevant to identify new therapeutic targets to improve the clinical outcome of patients. Bcl‐xL protein, the long isoform encoded by alternative splicing of the Bcl‐x gene, acts as an anti‐apoptotic regulator. Our study investigated the role of Bcl‐xL as a marker of severity of MPN and the possibility to target Bcl‐xL in patients. 129 MPN patients and 21 healthy patients were enrolled in the study. We analysed Bcl‐xL expression in leucocytes and in enriched CD34+ and CD235a+ cells. Furthermore, ABT‐737, a Bcl‐xL inhibitor, was tested in HEL cells and in leucocytes from MPN patients. Bcl‐xL was found progressively over‐expressed in cells from ET, PV and PMF patients, independently by JAK2 mutational status. Moreover, our data indicated that the combination of ABT‐737 and ruxolitinib resulted in a significantly higher apoptotic rate than the individual drug. Our study suggests that Bcl‐xL plays an important role in MPN independently from JAK2 V617F mutation. Furthermore, data demonstrate that targeting simultaneously JAK2 and Bcl‐xL might represent an interesting new approach. [ABSTRACT FROM AUTHOR]

Humans introduce non‐native species by means such as the deliberate release of fish into fresh waters and through commercial trade. The guppy Poecilia reticulata Peters, 1859, is commonly kept in aquaria and controls disease vectors, and now it occurs in many areas outside its natural distribution. Its initial habitat in Brazil was identified, and a study was performed to determine whether the density of guppies can be explained by the density of human population, per‐capita gross domestic product, level of human impact on the areas where guppies have been found and fish‐sampling effort. A total of 1402 guppy records were found; the southeastern region had the oldest records; and the southeastern, northeastern and central‐western regions had the maximum records. Low tolerance to the colder climate may be the reason for the lack of guppy records in the southernmost states. It was also observed that the occurrence of this fish is positively, yet weakly, related to the density of human population, indicating that improved regulations regarding its use in controlling disease vectors, the aquarium trade and education of aquarium hobbyists could help prevent the spread of this species and its potential impacts in Brazil. [ABSTRACT FROM AUTHOR]

The extraordinary species diversity of the Neotropical freshwater fish fauna is world renown. Yet, despite rich species diversity, taxonomic and genetic resources for its Cerrado ichthyofauna remain poorly developed. We provide a reference library of 149 DNA barcodes for 39 species/lineages of Cerrado headwater stream fishes from the Brazilian Distrito Federal and nearby areas and test the utility of distance‐based criteria, tree‐based criteria and minibarcodes for specimen identification. Mean Kimura 2‐parameter genetic distances within species to orders ranged 1·8–12·1%. However, mean intraspecific v. congeneric‐interspecific distances (0·9–1·3%) overlapped extensively and distance‐based barcoding failed to achieve correct identifications due to c. 4–12·1% error rates and 19·5% ambiguous identifications related to the presence of singletons. Overlap was reduced and best‐match success rates improved drastically to 83·5% when Characidium barcodes representing potential misidentifications or undescribed species were removed. Tree‐based monophyly criteria generally performed similarly to distance methods, correctly differentiating up to c. 85% of species/lineages despite neighbour‐joining and Bayesian tree errors (random lineage‐branching events, long‐branch attraction). Five clusters (Ancistrus aguaboensis, Characidium spp., Eigenmannia trilineata, Hasemania hanseni and Hypostomus sp. 2) exhibited deep intraspecific divergences or para−/polyphyly and multiple Barcode Index Number assignments indicative of putative candidate species needing taxonomic re‐examination. Sliding‐window analyses also indicated that a 200 bp minibarcode region performed just as well at specimen identification as the entire barcode gene. Future DNA barcoding studies of Distrito Federal–Cerrado freshwater fishes will benefit from increased sampling coverage, as well as consideration of minibarcode targets for degraded samples and next‐generation sequencing. [ABSTRACT FROM AUTHOR]

Cutaneous melanoma is a skin cancer with increasing incidence. Identification of novel clinical biomarkers able to detect the stage of disease and suggest prognosis could improve treatment and outcome for melanoma patients. Cell‐free microRNAs (cf‐miRNAs) are the circulating copies of short non‐coding RNAs involved in gene expression regulation. They are released into the interstitial fluid, are detectable in blood and other body fluids and have interesting features of ideal biomarker candidates. They are stable outside the cell, tissue specific, vary along with cancer development and are sensitive to change in the disease course such as progression or therapeutic response. Moreover, they are accessible by non‐invasive methods or venipuncture. Some articles have reported different cf‐miRNAs with the potential of diagnostic tools for melanoma staging, recurrence and survival prediction. Although some concordance of results is already emerging, differences in analytical methods, normalization strategies and tumour staging still will require further research and standardization prior to clinical usage of cf‐miRNA analysis. This article reviews this literature with the aim of contributing to a shared focusing on these new promising tools for melanoma treatment and care. [ABSTRACT FROM AUTHOR]

Between the 1980s and the late 1990s, France and Belgium introduced two long-leave schemes and several measures to support childcare at home. Although this change was presented under the umbrella of the 'free-choice-for-women' rhetoric, it moved both countries towards a more familistic model. To evaluate the impact of this reform phase on female labour force participation, the present study employed the synthetic control method. This approach made it possible to contrast the evolution of the French and Belgian female labour force participation rates, observed in consequence of the implementation of the policies under investigation, with the corresponding evolution of the same rates reconstructed in the absence of such family programmes. The results of this exercise suggest that if France and Belgium had not undergone this policy treatment, their female labour market participation rates would have been higher than those actually measured. Key Practitioner Message: • Combining long-leave schemes with low incentives to support employment of a childminder obstructs female labour force participation. [ABSTRACT FROM AUTHOR]

Aim The astonishing diversity of Neotropical fishes results from historical and ecological processes intrinsically related to the geomorphological evolution of this region. Headwater captures are important biogeographical processes that promote dispersal or isolation of fish populations between watersheds. We investigate the effects of headwater captures on the phylogenetic structure of stream fish assemblages among watersheds in the Brazilian Shield highlands. Location Headwaters of Tocantins, Paraná and São Francisco watersheds, Brazilian Shield, Neotropical region. Methods Based on the phylogenetic relationships of 70 native fish species, we quantified the phylogenetic diversity of each basin, as well as species richness and the phylogenetic beta diversity between basins. Results The Upper Paraná basin showed higher richness and phylogenetic diversity, indicating phylogenetically distant species composition. The number of shared species and phylogenetic beta diversity values were not different from the null expectation, indicating recent exchange of species between the basins. Main conclusions Our results suggest that the fish assemblage of the Upper Paraná basin is older and many species colonized recently the neighbouring Upper Tocantins and São Francisco basins, highlighting the impact of headwater captures on the community assembly of Neotropical fishes. [ABSTRACT FROM AUTHOR]

Aim: Italian national guidelines on pain management were published in 2010, but there is little information on how effective pain management is in paediatric emergency care, with other countries reporting poor levels. Using headache as an indicator, we described pain assessment in Italian emergency departments and identified predictors of algometric scale use.Methods: All Italian paediatric and maternal and child hospitals participated, plus four general hospitals. Data on all children aged 4-14 years admitted during a one-month period with headache as their chief complaint were abstracted from clinical records. Multivariable analyses identified predictors of algometric assessment, taking into account the cluster study design.Results: We studied 470 admissions. During triage, pain was assessed using a standardised scale (41.5%), informally (15.5%) or was not recorded (42.9%). Only 32.1% of the children received analgesia in the emergency department. The odds ratios for predictors of algometric assessment were non-Italian nationality (3.6), prehospital medication (1.8), admission to a research hospital (7.3) and a more favourable nurses-to-admissions ratio of 10.8 for the highest versus lowest tertile.Conclusion: Despite national guidelines, paediatric pain assessment in Italian emergency care was suboptimal. Hospital variables appeared to be stronger predictors of adequate assessment than patient characteristics. [ABSTRACT FROM AUTHOR]

Exosomes are secreted nanovesicles that are able to transfer RNA and proteins to target cells. The emerging role of mesenchymal stem cell (MSC) exosomes as promoters of aerobic ATP synthesis restoration in damaged cells, prompted us to assess whether they contain an extramitochondrial aerobic respiration capacity. Exosomes were isolated from culture medium of human MSCs from umbilical cord of =37-wk-old newborns or between 28- to 30-wk-old newborns (i.e., term or preterm infants). Characterization of samples was conducted by cytofluorometry. Oxidative phosphorylation capacity was assessed by Western blot analysis, oximetry, and luminometric and fluorometric analyses. MSC exosomes express functional respiratory complexes I, IV, and V, consuming oxygen. ATP synthesis was only detectable in exosomes from term newborns, suggestive of a specific mechanism that is not completed at an early gestational age. Activities are outward facing and comparable to those detected in mitochondria isolated from term MSCs. MSC exosomes display an unsuspected aerobic respiratory ability independent of whole mitochondria. This may be relevant for their ability to rescue cell bioenergetics. The differential oxidative metabolism of preterm vs. term exosomes sheds new light on the preterm newborn's clinical vulnerability. A reduced ability to repair damaged tissue and an increased capability to cope with anoxic environment for preterm infants can be envisaged. [ABSTRACT FROM AUTHOR]

The article focuses on findings of a study on occurrence of clonal hematopoiesis in survivors of childhood cancer. It states that clonal hematopoiesis of indeterminate potential (CHIP), is associated with an increased risk of hematological malignancies, and mentions that cytotoxic therapies have been shown to favor expansion of pre-malignant hematopoietic clones. It notes results like targeted next generation DNA sequencing, and potential role for CHIP as a biomarker.

The urokinase-type plasminogen activator receptor ( uPAR) is a non-integrin vitronectin (VN) cell adhesion receptor linked to the plasma membrane by a glycolipid anchor. Through structure-function analyses of uPAR, VN and integrins, we document that uPAR-mediated cell adhesion to VN triggers a novel type of integrin signalling that is independent of integrin-matrix engagement. The signalling is fully active on VN mutants deficient in integrin binding site and is also efficiently transduced by integrins deficient in ligand binding. Although integrin ligation is dispensable, signalling is crucially dependent upon an active conformation of the integrin and its association with intracellular adaptors such as talin. This non-canonical integrin signalling is not restricted to uPAR as it poses no structural constraints to the receptor mediating cell attachment. In contrast to canonical integrin signalling, where integrins form direct mechanical links between the ECM and the cytoskeleton, the molecular mechanism enabling the crosstalk between non-integrin adhesion receptors and integrins is dependent upon membrane tension. This suggests that for this type of signalling, the membrane represents a critical component of the molecular clutch. [ABSTRACT FROM AUTHOR]

The discovery of human Metapneumovirus (hMPV) and human Bocavirus (hBoV) identified the etiological causes of several cases of acute respiratory tract infections in children. This report describes the molecular epidemiology of hMPV and hBoV infections observed following viral surveillance of children hospitalized for acute respiratory tract infections in Milan, Italy. Pharyngeal swabs were collected from 240 children ≤3 years of age (130 males, 110 females; median age, 5.0 months; IQR, 2.0-12.5 months) and tested for respiratory viruses, including hMPV and hBoV, by molecular methods. hMPV-RNA and hBoV-DNA positive samples were characterized molecularly and a phylogenetical analysis was performed. PCR analysis identified 131/240 (54.6%) samples positive for at least one virus. The frequency of hMPV and hBoV infections was similar (8.3% and 12.1%, respectively). Both infections were associated with lower respiratory tract infections: hMPV was present as a single infectious agent in 7.2% of children with bronchiolitis, hBoV was associated with 18.5% of pediatric pneumonias and identified frequently as a single etiological agent. Genetically distinct hMPV and hBoV strains were identified in children examined with respiratory tract infections. Phylogenetic analysis showed an increased prevalence of hMPV genotype A (A2b sublineage) compared to genotype B (80% vs. 20%, respectively) and of the hBoV genotype St2 compared to genotype St1 (71.4% vs. 28.6%, respectively). Interestingly, a shift in hMPV infections resulting from A2 strains has been observed in recent years. In addition, the occurrence of recombination events between two hBoV strains with a breakpoint located in the VP1/VP2 region was identified. J. Med. Virol. 83:156-164, 2011. © 2010 Wiley-Liss, Inc. [ABSTRACT FROM AUTHOR]

We prove that a maximal totally complex submanifold N2n of the quaternionic projective space ℙn (n ≥ 2) is a parallel submanifold, provided that one of the following conditions is satisfied: (1) N is the orbit of a compact Lie group of isometries; (2) the restricted normal holonomy is a proper subgroup of U(n). [ABSTRACT FROM PUBLISHER]

The determination of age is an important step in defining the life history traits of individuals and populations. Age determination of odontocetes is mainly based on counting annual growth layer groups in the teeth. However, this useful method is always invasive, requiring the cutting of at least one tooth, and sometimes the results are difficult to interpret. Based on the concept that bone matrix is constantly deposited throughout life, we analysed the bone mineral density of the arm and forearm of a series of bottlenose dolphins ( Tursiops truncatus, Montagu 1821) stranded along the Italian coast of the Adriatic Sea or maintained in confined waters. The bone mineral density values we obtained were evaluated as possible age predictors of the Mediterranean population of this species, considering age as determined by counting growth layer groups in sections of the teeth and the total body length of the animal as references. Comparisons between left and right flipper showed no difference. Our results show that bone mineral density values of the thoracic limb are indeed reliable age predictors in Tursiops truncatus. Further investigations in additional odontocete species are necessary to provide strong evidence of the reliability of bone mineral density as an indicator of growth and chronological wear and tear in toothed-whales. [ABSTRACT FROM AUTHOR]

Analyses of individual biomolecules, like DNA, or DNA–protein complexes, via atomic force microscopy, require ‘gentle’ methods to immobilize DNA on surfaces, which allow the ensemble of molecules to adopt conformations dictated primarily by their physical characteristics, and which possibly permit the use of a wide selection of buffers. We show that poly- l-ornithine-coated mica is a good substrate for fast, reliable deposition of DNA for wet or dry imaging. The surface firmly secures DNA, which retains the B-form helical rise (0.34 nm bp−1). The conformations of DNA that result are reminiscent of three-dimensional random coils projected on to a plane. The contrast is good, especially in solution, and buffers with physiological concentrations of salt with or without divalent cations may be used. This is important for comparison of scanning probe microscopy results with those obtained by different techniques. [ABSTRACT FROM AUTHOR]

Between 1990 and 1992, Mediterranean striped dolphins (Stenella coeruleoalba) suffered high mortality due to a morbillivirus epidemic. Ten highly variable microsatellite markers were used to assess the population structure of a sample of these stranded animals and to assess the genetic consequences of the epizootic on present stocks. We found little evidence of population structure within the Mediterranean, but distinct separation between this and the North Sea (Atlantic) population, the latter also showing greater genetic diversity. Using a genetic measure of inbreeding, we found that dolphins dying early in the outbreak were significantly more inbred than those dying later. Within 10 years of the end of the epidemic, the level of inbreeding among stranded dolphins had returned to its pre-outbreak levels. However, on average all stranded animals showed elevated levels of inbreeding, suggesting that animals dying from disease may venture towards the shore more than those dying of old age. Our results imply an important role for inbreeding in the dynamics of disease spread and that, in marine mammal research, caution should be exercised when inferring demographic parameters from stranded specimens. [ABSTRACT FROM AUTHOR]

Summary objective We have recently reported that, in healthy elderly Dutch individuals, a N363S polymorphism in the glucocorticoid receptor (GR) gene is associated with higher sensitivity to low-dose dexamethasone (0·25 mg), evaluated as both cortisol suppression and insulin response, and with an increased body mass index (BMI). In the present study we investigated the role of the N363S polymorphism, and a Bcl I restriction site polymorphism in a group of Italian patients with severe obesity. design Two hundred and seventy-nine patients (mean BMI 45·9 ± 0·9 kg/m2 ) were genotyped using both PCR-restriction fragment length polymorphism analysis and Taqman Sequence Detection System. Determination of several metabolic and antropometric parameters was also performed in order to correlate them to the genotype. results In this group of obese patients, 13 subjects (eight female, five males) were heterozygous for the N363S variant (allelic frequency 2·3%) and had significantly higher BMI (P < 0·04), resting energy expenditure (P < 0·03) and food intake (P < 0·01) when compared to wild-type homozygotes. When the data were analysed according to sex, female heterozygotes for the N363S allele had significantly higher BMI (P = 0·04), resting energy expenditure (P = 0·03) and food intake (P = 0·008) than obese women with the wild-type 363 GR gene. Male carriers of this variant also had higher values for these variables although the differences did not reach statistical significance. A case–control study with homozygous wild-type obese subjects which were age-, sex- and BMI-matched, revealed no difference in resting energy expenditure and food intake. The allele frequency of the Bcl I variant was 27% (89 females and 41 males out of 269 subjects). No differences in anthropometric and metabolic parameters were found between subjects heterozygous or homozygous for this variant GR in this obese population.... [ABSTRACT FROM AUTHOR]

In this work data are reported on the possibility for detection of environmental contaminants endowed with toxic effects by specifically designed electrochemical biosensors. A new bienzymatic inhibition biosensor based on the combined catalytic activity of the enzymes alkaline phosphatase and glucose oxidase is proposed and discussed for the direct determination of 2,4-dichlorophenoxyacetic acid (2,4-D), one of the most powerful and diffused defoliants, which also is endowed with estrogenic properties. A discussion on the different approaches followed to manage the experimental data obtained by enzymatic inhibition biosensors is also presented. [ABSTRACT FROM AUTHOR]

Cytogenetic abnormalities and paroxysmal nocturnal haemoglobinuria (PNH) phenotype are frequent findings in aplastic anaemia patients treated with immunosuppressive therapy (IST). In this study we investigated whether the appearance of clonal haemopoiesis influences patient outcome and survival. 97 patients entered this study and were followed from the onset of the disease for a median follow-up (FU) of 53 months. 93% are alive, 56% achieved complete remission, 30% partial remission, both transfusion independent, and 14% did not respond. Three groups were identified: (A) patients without evidence of emerging clones (71/97); (B) patients who acquired chromosomal abnormalities (13/97); (C) patients who showed low expression of glycosyl phosphatidylinositol anchored proteins (GPI-AP) (PNH phenotype) at presentation or later (16/97). Three patients showed both PIG-AP deficiency and chromosomal abnormalities. The actuarial survival of patients without clonal haemopoiesis (n = 71) at 6 years was 95%, for patients with chromosomal abnormalities (n = 13), 88%, and for patients with PIG-AP deficiency (n = 16), 89%. There was no difference in the probability of becoming transfusion independent in the three groups (93%, 92% and 88% respectively). This study confirmed that a proportion of severe aplastic anaemia (SAA) patients exhibit clonal markers during the time after IST, often coexisting with cytogenetically or phenotypically normal haemopoiesis. There was no significant clinical impact of these abnormalities on transfusion independence and survival at the median follow-up of 4 years. [ABSTRACT FROM AUTHOR]

We carried out studies to quantify Ph-negative progenitors both in steady state and during regeneration after chemotherapy and G-CSF in 23 newly diagnosed chronic myeloid leukaemia (CML) patients (group A) and in 14 individuals more than a year from diagnosis (nine in chronic and five in accelerated phase, group B). In steady-state bone marrow, Ph-negative long-term culture initiating cells (LTC-IC) and Ph-negative colony-forming-cells (CFC) were detected in 18/23 and 14/23 patients of group A versus 3/14 and 3/14 patients of group B (P < 0.001 and P < 0.02, respectively). The absolute number of mobilized Ph-negative progenitors was markedly higher in group A versus group B (P < 0.02 for LTC-IC, P < 0.003 for CFC). 12/16 newly diagnosed patients mobilized Ph-negative LTC-IC only and the yield was in the range of normal allogeneic donors. Overall the frequency of Ph-negative LTC-IC in the bone marrow predicted the yield of Ph-negative LTC-IC mobilized into peripheral blood (P < 0.001). The bone marrow frequency of Ph-positive LTC-IC was considerably lower than the normal counterpart. Taken together, these findings suggest that normal progenitors are relatively well preserved in newly diagnosed CML patients, but tend to rapidly decline with time. This observation helps in the understanding of the pathogenesis of CML and has potential implications for autografting. The optimal time for a successful collection of Ph-negative circulating progenitors would appear to be soon after diagnosis. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article on cesarean section scar treatment.

Solar cells fabricated from sustainable quantum dot materials are currently not commercially available, but ongoing research provides a steady increase in efficiency and stability of laboratory devices. In this work, the first germanium quantum dot solar cell made with a gas aggregation nanoparticle source is presented. UV–vis spectroscopy reveals quantum confinement, and the spectral response of the germanium quantum dot Grätzel‐type solar cell confirms the presence of large and small band gap optical absorption due to a mix of particle sizes. Some of the particles are small enough to have substantial quantum confinement while others are so large that they have bulk‐like properties. The efficiency of the germanium quantum dot solar cells is very low but could reach 1% if the formation of germanium oxide layers is avoided in future experiments. This first quantum dot solar cell made with a gas aggregation nanoparticle source demonstrates, as a proof of concept, the technological potential for research and applications combining the fields of photovoltaics and gas aggregation nanoparticle sources. A proof of concept germanium quantum dot Grätzel‐type solar cell is fabricated with a magnetron sputtering gas aggregation nanoparticle source. The efficiency of the germanium quantum dot solar cells is very low but could reach 1% if the formation of germanium oxide layers is avoided in future experiments. [ABSTRACT FROM AUTHOR]