bluuebunny/crossref_metadata_2025 huggingface dataset:
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important
Authors: Eggermann Thomas , Brück Johanna , Knopp Cordula , Fekete György , Kratz Christian , Tasic Velibor , Kurth Ingo , Elbracht Miriam , Eggermann Katja , Begemann Matthias
Published: August 2020

Molecular diagnostic testing of the 11p15.5-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging due to the broad spectrum of molecular defects and their mosaic occurrence. Additionally, the decision on the molecular testing algorithm is hindered by their clinical heterogeneity. However, the precise identification of the type of defect is often a prerequisite for the clinical management and genetic counselling. Four major molecular alterations (epimutations, uniparental disomies, copy number variants, single nucleotide variants) have been identified, but their frequencies vary between SRS and BWS. Due to their molecular aetiology, epimutations in both disorders as well as upd(11)pat in BWS are particular prone to mosaicism which might additionally complicate the interpretation of testing results. We report on our experience of molecular analysis in a total cohort of 1448 patients referred for diagnostic testing of BWS and SRS, comprising a dataset from 737 new patients and from 711 cases from a recent study. Though the majority of positively tested patients showed the expected molecular results, we identified a considerable number of clinically unexpected molecular alterations as well as not yet reported changes and discrepant mosaic distributions. Additionally, the rate of multilocus imprinting disturbances among the patients with epimutations and uniparental diploidies could be further specified. Altogether, these cases show that comprehensive testing strategies have to be applied in diagnostic testing of SRS and BWS. The precise molecular diagnosis is required as the basis for a targeted management (e.g. ECG (electrocardiogram) and tumour surveillance in BWS, growth treatment in SRS). The molecular diagnosis furthermore provides the basis for genetic counselling. However, it has to be considered that recurrence risk calculation is determined by the phenotypic consequences of each molecular alteration and mechanism by which the alteration arose.

Key messages

The detection rates for the typical molecular defects of Beckwith-Wiedemann syndrome or Silver-Russell syndrome (BWS, SRS) are lower in routine cohorts than in clinically well-characterised ones.

A broad spectrum of (unexpected) molecular alterations in both disorders can be identified.

Multilocus imprinting disturbances (MLID) are less frequent in SRS than expected.

The frequency of MLID and uniparental diploidy in BWS is confirmed.

Mosaicism is a diagnostic challenge in BWS and SRS.

The precise determination of the molecular defects affecting is the basis for a targeted clinical management and genetic counselling.
A systematic approach for introduction of novel treatments to a chronic patient group: sacubitril-valsartan as a case study
Authors: Norberg Helena , Bergdahl Ellinor , Ängerud Karin Hellström , Lindmark Krister
Published: August 2020

Purpose

To develop a model for systematic introduction and to test the feasibility in a chronic disease population. We also investigated how the approach was received by the patients.

Methods and results

The systematic introduction approach is a seven-step procedure: step 1, define a few main criteria; step 2, primary scan patients with the one or two main criteria using computerized medical records/databases/clinical registries; step 3, identify patients applying the other predefined criteria; step 4, evaluate if any examinations/laboratory test updates are required; step 5, summon identified patients to the clinic with an information letter; step 6, discuss treatment with the patient and prescribe if appropriate; and step 7, follow up on initiated therapy and evaluate the applied process. The model was tested in a case study during introduction of the new drug sacubitril-valsartan in a heart failure population. In total, 76 out of 1924 patients were identified to be eligible for sacubitril-valsartan and summoned to the clinic to discuss treatment. Patient experiences with the approach were investigated in an interview study with general inductive approach using qualitative content analysis. This resulted in three final categories: a good approach, role of the information letter, and trust in care.

Conclusions

The systematic introduction approach ensures that strict criteria are used in the selection process and that a treatment can be implemented in eligible patients within a specified population with limited resources and time. The model was effective in our case study and maintained the patient’s confidence in healthcare.
Power in the Council of the EU: organizing theory, a new index, and Brexit
Authors: Grech Philip D.
Published: August 2020

We aim to estimate the power distribution in the Council of the European Union—both a priori and a posteriori. With respect to the latter, our analysis suggests that several previously used indices are ill-suited for this application. By introducing minimal modifications, we propose a new index and compare it with previous constructions in a unified framework. Empirically, we find that that all countries gain a priori voting power in the Council as a result of Brexit. We rely on data from the Chapel Hill Expert survey to compute a posteriori power and find that it is more unequally distributed than a priori power. Specifically, a posteriori power is almost exclusively held by relatively few rather populous states (yet not the United Kingdom). As regards Brexit, France appears as the main benefactor in terms of gaining a posteriori power; Poland loses substantive power in several areas but remains one of the most powerful EU member states.
Overcoming PARP inhibitor resistance in ovarian cancer: what are the most promising strategies?
Authors: Klotz Daniel Martin , Wimberger Pauline
Published: August 2020

Purpose

Ovarian cancer is the most lethal gynaecological malignancy. Despite the introduction of bevacizumab, standard chemotherapy has remained largely unchanged and the vast majority of patients will relapse within the first two years of diagnosis. However, results from recent clinical trials demonstrating clinical benefits of PARP inhibitor treatment are rapidly changing therapeutic options for many patients with ovarian cancer.

Methods

Given the introduction of new therapeutic options in the treatment of ovarian cancer, we critically review key clinical trials, areas of scientific research and its clinical relevance.

Results

Most notably, patients with BRCA1/2 mutant ovarian cancer benefit from maintenance treatment with PARP inhibitors after (complete or partial) response to platinum-based chemotherapy. Here, we discuss the mechanism of PARP inhibition, multiple drug resistance mechanisms, including BRCA reverse mutations, altered PARP expression, changes in DNA repair pathways, kinase activation and additional drug targets that may augment PARP inhibition.

Conclusion

Although the use of PARP inhibitors is a huge step forward, it is apparent that patients, both with and without BRCA-mutant ovarian cancer, will eventually become resistant to PARP inhibitors. Therefore, novel combination therapies may enhance PARP inhibitor efficacy and overcome resistance mechanisms.
Forensic age estimation via magnetic resonance imaging of knee in the Turkish population: use of T1-TSE sequence
Authors: Ekizoglu Oguzhan , Er Ali , Bozdag Mustafa , Basa Can Doruk , Kacmaz Ismail Eralp , Moghaddam Negahnaz , Grabherr Silke
Published: August 2020

The evaluation of epiphyseal areas by magnetic resonance imaging (MRI) for forensic age estimation is an important supportive diagnostic method to prevent repeated radiation exposure without a valid medical reason. There are still not enough individuals being analyzed with MRI for age estimation. The aim of this study was to investigate the utility of T1-weighted turbo spin echo (T1-TSE) MRI sequences in determining the degree of ossification of the distal femoral and proximal tibial epiphyses in a Turkish population. In this study, images from 649 patients (335 males and 314 females) aged 10–30 years were retrospectively evaluated with sagittal T1-weighted turbo spin echo (T1-TSE) MRI sequences of the knee. Proximal tibial and distal femoral epiphysis were scored by two different observers twice using the combined staging system described by Schmeling and Kellinghaus. Spearman’s rank correlation analysis indicated a significant positive relationship between age and ossification stages of the distal femoral and proximal tibial epiphyses (p < 0.001). The intra- and inter-observer reliabilities in evaluating the femur and tibia were separately determined and gave promising results and Cohen’s kappa statistics ranged from κ = 0.886 and κ = 0.961. The minimal ages of patients with stage 4 ossification were 15.1 years for females and 15.8 years for males for the distal tibial epiphysis and 15.4 years for females and 17 years for males for the distal femoral epiphysis. This study show that (T1-TSE) MRI and the applicability and Schmeling and Kellinghaus staging method of the knee can be performed for living 14- to 17-year-old individuals in need of a supportive noninvasive method for estimating forensic age.
Mechanisms of nonalcoholic fatty liver disease and implications for surgery
Authors: Kaufmann Benedikt , Reca Agustina , Wang Baocai , Friess Helmut , Feldstein Ariel E. , Hartmann Daniel
Published: August 2020

Background

Nonalcoholic fatty liver disease (NAFLD) has become the most common form of chronic liver disease in both adults and children worldwide. Understanding the pathogenic mechanisms behind NAFLD provides the basis for identifying risk factors, such as metabolic syndrome, pancreatoduodenectomy, and host genetics, that lead to the onset and progression of the disease. The progression from steatosis to more severe forms, such as steatohepatitis, fibrosis, and cirrhosis, leads to an increased number of liver and non-liver complications.

Purpose

NAFLD-associated end-stage liver disease (ESLD) and hepatocellular carcinoma (HCC) often require surgery as the only curative treatment. In particular, the presence of NAFLD together with the coexisting metabolic comorbidities that usually occur in these patients requires careful preoperative diagnosis and peri-/postoperative management. Bariatric surgery, liver resection, and liver transplantation (LT) have shown favorable results for weight loss, HCC, and ESLD in patients with NAFLD. The LT demand and the increasing spread of NAFLD in the donor pool reinforce the already existing lack of donor organs.

Conclusion

In this review, we will discuss the diverse mechanisms underlying NAFLD, its implications for surgery, and the challenges for patient management.
Determinants of cardiorespiratory fitness in very long-term survivors of allogeneic hematopoietic stem cell transplantation: a national cohort study
Authors: Myrdal Ole Henrik , Diep Phoi Phoi , Ruud Ellen , Brinch Lorentz , Massey Richard John , Edvardsen Elisabeth , Kongerud Johny , Lund May B. , Sikkeland Liv Ingunn
Published: August 2020

Purpose

Survivors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) are at risk for cardiopulmonary adverse events. Data on long-term effects on cardiorespiratory fitness are limited. To address the gap in knowledge, we aimed to determine peak oxygen uptake (V̇O2peak) and identify associations between cardiorespiratory fitness and clinical characteristics, self-reported physical activity, cardiac, and pulmonary function.

Methods

In a nationwide, single-center cross-sectional study, 90 survivors [aged median (range) 35 (17–54) years, 56% females] were examined, 17 (6–26) years after allo-HSCT. Myeloablative conditioning comprised busulfan/cyclophosphamide or cyclophosphamide only. Methods included pulmonary function tests, echocardiography, and cardiopulmonary exercise test.

Results

Chronic graft-versus-host disease (cGVHD) was found in 31% of the subjects, of whom 40% had bronchiolitis obliterans syndrome (BOS). Seventy-one percent of the survivors did not meet WHO recommendations for physical activity and 42% were overweight. Reduced gas diffusion (DLCO) and systolic ventricular dysfunction (LVEF) were found in 44% and 31%, respectively. For the group, mean (95% CI), V̇O2peak was 36.4 (34.7–38.0) mL/min/kg [89 (85–93)% of predicted]. V̇O2peak was low at 43%. Cardiopulmonary factors and deconditioning were equally common limitations for exercise. In a multiple linear regression model, low V̇O2peak was associated with low DLCO, low LVEF, BOS, overweight, and inactivity.

Conclusion

Half of the survivors had reduced cardiorespiratory fitness median 17 years after allo-HSCT. Cardiopulmonary factors and deconditioning were equally common limitations to exercise. We encourage long-term cardiopulmonary monitoring of allo-HSCT survivors and targeted advice on modifiable lifestyle factors.
Supragastric belching in Japan: lower prevalence and relevance for management of gastroesophageal reflux disease compared to United Kingdom
Authors: Sawada Akinari , Itami Hideaki , Nakagawa Kenichiro , Hirano Shinji , Kitamura Hiroyuki , Nakata Rieko , Takashima Shingo , Abe Yasuaki , Saito Masahiro , Yazaki Etsuro , Kawamura Osamu , Tanaka Fumio , Takeuchi Toshihisa , Koike Tomoyuki , Masamune Atsushi , Fujiwara Yasuhiro , Higuchi Kazuhide , Sifrim Daniel
Published: August 2020

Background

Supragastric belching (SGB) may play a role in the pathophysiology of proton pump inhibitors (PPIs)-refractoriness in gastroesophageal reflux disease (GERD). SGB may be present in up to 40% of reflux symptoms in PPI-refractory GERD. Most reports on SGB have come from Western countries, and little is known about the prevalence and relevance of SGB in Asian refractory GERD patients. This study aimed at comparing the role of SGB in GERD patients in Japan and the UK.

Methods

We re-analyzed impedance-pH monitoring tracings from patients who were referred to tertiary centers in Japan and the UK due to PPI-refractory reflux symptoms. The prevalence of excessive SGB and the impact of SGB on reflux symptoms were compared between the two countries.

Results

Impedance-pH tracings from124 Japanese and 83 British patients were re-analyzed. Japanese patients were significantly younger and had smaller body mass index than the British (P < 0.001). Japanese patients had significantly lower prevalence of excessive SGB (18.5%) than the UK (36.1%) irrespective of reflux phenotype (P = 0.006). Logistic regression analysis showed that the geographical/cultural difference was the only factor associated with the different prevalence of SGB (odds ratio; 2.91, 95% CI 1.09–7.73, P = 0.032). SGB were related to typical reflux symptoms very rarely in Japan [0% (0–4.9)] compared to the UK [35% (0–54.1)] (P = 0.071).

Conclusions

The prevalence of SGB and their impact on reflux symptoms is significantly lower in Japan compared to the UK. The difference is not related to reflux parameters but might come from ethnic/cultural factors to be further characterized.
Risk factors and pattern of weight gain in youths using antipsychotic drugs
Authors: van der Esch Casper C. L. , Kloosterboer Sanne M. , van der Ende Jan , Reichart Catrien G. , Kouijzer Mirjam E. J. , de Kroon Matthias M. J. , van Daalen Emma , Ester Wietske A. , Rieken Rob , Dieleman Gwen C. , Hillegers Manon H. J. , van Gelder Teun , Koch Birgit C. P. , Dierckx Bram
Published: August 2020

Antipsychotic-induced weight gain is a major health concern in children and adolescents. The aim of this study was to identify risk factors for weight gain during short-, middle- and long-term treatment with antipsychotic drugs in this young population. We analysed a combined prospective and a retrospective observational cohort of Dutch children and adolescents, starting with risperidone, aripiprazole or pipamperone treatment. Linear mixed models were used to test whether sex, age, baseline body-mass-index (BMI) z score, type of antipsychotic, dose equivalent/kg, duration of use, previous antipsychotic use, ethnicity, physical exercise, IQ, concomitant medication, and psychiatric classification predicted the BMI z score for a follow-up of < 15 weeks, 15–52 weeks or > 52 weeks. A total of 144 patients were included with a median [interquartile range ([IQR)] age of 9 (4) years and median follow-up of 30 (73) weeks. During the complete follow-up, the median (IQR) weight gain was 0.37 (0.95) BMI z score points. Antipsychotic-induced weight gain was found to be most pronounced during the first 15 weeks of use (BMI z score increase per week β = 0.02, 95% CI 0.01–0.03, p = 0.002). A higher baseline BMI z score and the absence of stimulant use were associated with a higher BMI z score during the entire follow-up and after 15 weeks, respectively. Previous treatment with an antipsychotic drug was associated with less weight gain during the first 15 weeks of treatment. Our findings underscore the importance of close patient monitoring during the first weeks of antipsychotic treatment with a focus on patients with a high baseline BMI z score.
Endoscopic versus stereotactic biopsies of intracranial lesions involving the ventricles
Authors: Birski Marcin , Furtak Jacek , Krystkiewicz Kamil , Birska Julita , Zielinska Karolina , Sokal Paweł , Rusinek Marcin , Paczkowski Dariusz , Szylberg Lukasz , Harat Marek
Published: August 2020

Stereotactic biopsies of ventricular lesions may be less safe and less accurate than biopsies of superficial lesions. Accordingly, endoscopic biopsies have been increasingly used for these lesions. Except for pineal tumors, the literature lacks clear, reliable comparisons of these two methods. All 1581 adults undergoing brain tumor biopsy from 2007 to 2018 were retrospectively assessed. We selected 119 patients with intraventricular or paraventricular lesions considered suitable for both stereotactic and endoscopic biopsies. A total of 85 stereotactic and 38 endoscopic biopsies were performed. Extra procedures, including endoscopic third ventriculostomy and tumor cyst aspiration, were performed simultaneously in 5 stereotactic and 35 endoscopic cases. In 9 cases (5 stereotactic, 4 endoscopic), the biopsies were nondiagnostic (samples were nondiagnostic or the results differed from those obtained from the resected lesions). Three people died: 2 (1 stereotactic, 1 endoscopic) from delayed intraventricular bleeding and 1 (stereotactic) from brain edema. No permanent morbidity occurred. In 6 cases (all stereotactic), additional surgery was required for hydrocephalus within the first month postbiopsy. Rates of nondiagnostic biopsies, serious complications, and additional operations were not significantly different between groups. Mortality was higher after biopsy of lesions involving the ventricles, compared with intracranial lesions in any location (2.4% vs 0.3%, p = 0.016). Rates of nondiagnostic biopsies and complications were similar after endoscopic or stereotactic biopsies. Ventricular area biopsies were associated with higher mortality than biopsies in any brain area.
Closed-incision negative-pressure wound management in surgery—literature review and recommendations
Authors: Smolle Maria A. , Nischwitz Sebastian P. , Hutan Martin , Trunk Primoz , Lumenta David , Bernhardt Gerwin A.
Published: August 2020

Background

Wound healing deficits and subsequent surgical site infections are potential complications after surgical procedures, resulting in increased morbidity and treatment costs. Closed-incision negative-pressure wound therapy (ciNPWT) systems seem to reduce postoperative wound complications by sealing the wound and reducing tensile forces.

Materials and methods

We conducted a collaborative English literature review in the PubMed database including publications from 2009 to 2020 on ciNPWT use in five surgical subspecialities (orthopaedics and trauma, general surgery, plastic surgery, cardiac surgery and vascular surgery). With literature reviews, case reports and expert opinions excluded, the remaining 59 studies were critically summarized and evaluated with regard to their level of evidence.

Results

Of nine studies analysed in orthopaedics and trauma, positive results of ciNPWT were reported in 55.6%. In 11 of 13 (84.6%), 13 of 15 (86.7%) and 10 of 10 (100%) of studies analysed in plastic, vascular and general surgery, respectively, a positive effect of ciNPWT was observed. On the contrary, only 4 of 12 studies from cardiac surgery discovered positive effects of ciNPWT (33.3%).

Conclusion

ciNPWT is a promising treatment modality to improve postoperative wound healing, notably when facing increased tensile forces. To optimise ciNPWT benefits, indications for its use should be based on patient- and procedure-related risk factors.
Parametrizing the Energy Dissipation Rate in Stably Stratified Flows
Authors: Basu Sukanta , He Ping , DeMarco Adam W.
Published: August 2020

We use a database of direct numerical simulations to evaluate parametrizations for energy dissipation rate in stably stratified flows. We show that shear-based formulations are more appropriate for stable boundary layers than commonly used buoyancy-based formulations. As part of the derivations, we explore several length scales of turbulence and investigate their dependence on local stability.
Microbial diversity of the glass sponge Vazella pourtalesii in response to anthropogenic activities
Authors: Busch Kathrin , Beazley Lindsay , Kenchington Ellen , Whoriskey Frederick , Slaby Beate M. , Hentschel Ute
Published: August 2020

Establishment of adequate conservation areas represents a challenging but crucial task in the conservation of genetic diversity and biological variability. Anthropogenic pressures on marine ecosystems and organisms are steadily increasing. Whether and to what extent these pressures influence marine genetic biodiversity is only starting to be revealed. Using 16S rRNA gene amplicon sequencing, we analysed the microbial community structure of 33 individuals of the habitat-forming glass sponge Vazella pourtalesii, as well as reference seawater, sediment, and biofilm samples. We assessed how two anthropogenic impacts, i.e. habitat destruction by trawling and artificial substrate provision (moorings made of composite plastic), correspond with in situ V. pourtalesii microbiome variability. In addition, we evaluated the role of two bottom fishery closures in preserving sponge-associated microbial diversity on the Scotian Shelf, Canada. Our results illustrate that V. pourtalesii sponges collected from protected sites within fishery closures contained distinct and taxonomically largely novel microbial communities. At the trawled site we recorded significant quantitative differences in distinct microbial phyla, such as a reduction in Nitrospinae in the four sponges from this site and the environmental references. Individuals of V. pourtalesii growing on the mooring were significantly enriched in Bacteroidetes, Verrucomicrobia and Cyanobacteria in comparison to sponge individuals growing on the natural seabed. Due to a concomitant enrichment of these taxa in the mooring biofilm, we propose that biofilms on artificial substrates may ‘prime’ sponge-associated microbial communities when small sponges settle on such substrates. These observations likely have relevant management implications when considering the increase of artificial substrates in the marine environment, e.g., marine litter, off-shore wind parks, and petroleum platforms.
The Role of Neutrophil NETosis in Organ Injury: Novel Inflammatory Cell Death Mechanisms
Authors: Cahilog Zhen , Zhao Hailin , Wu Lingzhi , Alam Azeem , Eguchi Shiori , Weng Hao , Ma Daqing
Published: August 2020

Abstract

NETosis is a type of regulated cell death dependent on the formation of neutrophil extracellular traps (NET), where net-like structures of decondensed chromatin and proteases are produced by polymorphonuclear (PMN) granulocytes. These structures immobilise pathogens and restrict them with antimicrobial molecules, thus preventing their spread. Whilst NETs possess a fundamental anti-microbial function within the innate immune system under physiological circumstances, increasing evidence also indicates that NETosis occurs in the pathogenic process of other disease type, including but not limited to atherosclerosis, airway inflammation, Alzheimer’s and stroke. Here, we reviewed the role of NETosis in the development of organ injury, including injury to the brain, lung, heart, kidney, musculoskeletal system, gut and reproductive system, whilst therapeutic agents in blocking injuries induced by NETosis in its primitive stages were also discussed. This review provides novel insights into the involvement of NETosis in different organ injuries, and whilst potential therapeutic measures targeting NETosis remain a largely unexplored area, these warrant further investigation.
Stability of synchronous states in sparse neuronal networks
Authors: Afifurrahman  , Ullner Ekkehard , Politi Antonio
Published: August 2020

The stability of synchronous states is analyzed in the context of two populations of inhibitory and excitatory neurons, characterized by two different pulse-widths. The problem is reduced to that of determining the eigenvalues of a suitable class of sparse random matrices, randomness being a consequence of the network structure. A detailed analysis, which includes also the study of finite-amplitude perturbations, is performed in the limit of narrow pulses, finding that the overall stability depends crucially on the relative pulse-width. This has implications for the overall property of the asynchronous (balanced) regime.
Jointly Held Investment Options and Vertical Relationships
Authors: Zormpas Dimitrios
Published: August 2020

We find the optimal time for exercising a jointly held investment option. When the input market is competitive, the investment can take place earlier, later, or exactly when the optimal investment threshold is reached depending on how the option holders interact and on the bargaining power distribution. When instead the input supplier has market power, the game-theoretic framework downstream is shown to be of secondary importance. The timing effect that is attributed to the vertical relationship is always prevailing, which dictates the inefficient postponement of the investment.
The influence of ecosystems on the entrepreneurship process: a comparison across developed and developing economies
Authors: Guerrero Maribel , Liñán Francisco , Cáceres-Carrasco F. Rafael
Published: August 2020

Over the past 30 years, the academic literature has legitimised the significant impact of environmental conditions on entrepreneurial activity. In the past 5 years, in particular, the academic debate has focused on the elements that configure entrepreneurship ecosystems and their influence on the creation of high-growth ventures. Previous studies have also recognised the heterogeneity of environmental conditions (including policies, support programs, funding, culture, professional infrastructure, university support, labour market, R&D, and market dynamics) across regions/countries. Yet, an in-depth discussion is required to address how environmental conditions vary per entrepreneurial stage of enterprises within certain regions/countries, as well as how these conditions determine the technological factor of the entrepreneurial process. By reviewing the literature from 2000 to 2017, this paper analyses the environmental conditions that have influenced the transitions towards becoming potential entrepreneurs, nascent/new entrepreneurs, and established/consolidated entrepreneurs in both developed and developing economies. Our findings show why diversity in entrepreneurship and context is significant. Favourable conditions include professional support, incubators/accelerators, networking with multiple agents, and R&D investments. Less favourable conditions include a lack of funding sources, labour market conditions, and social norms. Our paper contributes by proposing a research agenda and implications for stakeholders.
A field strength independent MR radiomics model to predict pathological complete response in locally advanced rectal cancer
Authors: Cusumano Davide , Meijer Gert , Lenkowicz Jacopo , Chiloiro Giuditta , Boldrini Luca , Masciocchi Carlotta , Dinapoli Nicola , Gatta Roberto , Casà Calogero , Damiani Andrea , Barbaro Brunella , Gambacorta Maria Antonietta , Azario Luigi , De Spirito Marco , Intven Martijn , Valentini Vincenzo
Published: August 2020

Purpose

Aim of this study was to develop a generalised radiomics model for predicting pathological complete response after neoadjuvant chemo-radiotherapy in locally advanced rectal cancer patients using pre-CRT T2-weighted images acquired at a 1.5 T and a 3 T scanner.

Methods

In two institutions, 195 patients were scanned: 136 patients were scanned on a 1.5 T MR scanner, 59 patients on a 3 T MR scanner. Gross tumour volumes were delineated on the MR images and 496 radiomic features were extracted, applying the intensity-based (IB) filter. Features were standardised with Z-score normalisation and an initial feature selection was carried out using Wilcoxon–Mann–Whitney test: The most significant features at 1.5 T and 3 T were selected as main features. Several logistic regression models combining the main features with a third one selected by those resulting significant were elaborated and evaluated in terms of area under curve (AUC). A tenfold cross-validation was repeated 300 times to evaluate the model robustness.

Results

Three features were selected: maximum fractal dimension with IB = 0–50, energy and grey-level non-uniformity calculated on the run-length matrix with IB = 0–50. The AUC of the model applied to the whole dataset after cross-validation was 0.72, while values of 0.70 and 0.83 were obtained when 1.5 T and 3 T patients were considered, respectively.

Conclusions

The model elaborated showed good performance, even when data from patients scanned on 1.5 T and 3 T were merged. This shows that magnetic field intensity variability can be overcome by means of selecting appropriate image features.
Ist die Geschlechterrolleneinstellung entscheidend? Die Wirkung länderspezifischer Geschlechterkulturen auf die Erwerbsarbeitszeiten von Frauen
Authors: Kümmerling Angelika , Postels Dominik
Published: August 2020

In der letzten Dekade wurde (nicht nur) in Deutschland eine Reihe von Maßnahmen zur Erhöhung der weiblichen Erwerbsbeteiligung eingeführt (Ausbau der Kinderbetreuungseinrichtungen, Elterngeld etc.). Während sich die Erwerbsquote der Frauen deutlich erhöht hat, fallen die Effekte auf das Arbeitsvolumen deutlich schwächer aus. Ziel des Beitrags ist es, diejenigen Faktoren zu identifizieren, die zu höheren Arbeitszeiten von Frauen beitragen. Hierfür vergleichen wir auf Grundlage des European Social Surveys die Arbeitszeiten von Frauen in der EU-27 und entwickeln ein Mehrebenenmodell, das uns ermöglicht, Einflüsse von Makro- und Mikroebene auf die Arbeitszeiten gleichzeitig zu beobachten. Auf der Mikroebene kontrollieren wir die individuelle Qualifikation, die Lebensphase und verschiedene Arbeitsplatzcharakteristika, auf der Makroebene soziostrukturelle und familienpolitische Unterschiede in den EU-Ländern. Aufbauend auf der Theorie der Geschlechterkulturen von Pfau-Effinger modellieren wir zusätzlich die Geschlechterkultur als mit Makrostrukturen interagierende Variable. Unsere Ergebnisse zeigen, dass die Wirkung familienfreundlicher Maßnahmen, wie die Verfügbarkeit von Kinderbetreuungseinrichtungen oder flexibler Arbeitszeitmodelle, durch länderspezifische Geschlechterrollenvorstellungen beeinflusst werden. Wir schließen daraus, dass politische und betriebliche Maßnahmen zur besseren Einbindung von Frauen in den Arbeitsmarkt und insbesondere zur Erhöhung ihrer Arbeitszeit nur dann ihre volle Wirksamkeit entfalten können, wenn diese durch die in einer Gesellschaft vorherrschenden Rollen- und Familienleitbilder gestützt werden.
Three new Critically Endangered Inversodicraea (Podostemaceae) species from Tropical Africa: I. senei, I. tanzaniensis and I. botswana
Authors: Cheek Martin , Séné Olivier , Ngansop Eric
Published: August 2020

Three new species of Inversodicraea (Podostemaceae), I. senei from the Memv’ele falls of the Ntem River, Cameroon, I. tanzaniensis from the Ruhudji River near Lupembe, Southern Highlands, Tanzania, and I. botswana from the Kasane rapids on the Chobe River, Botswana, are described and illustrated. All three species are known from single sites. All three are assessed as Critically Endangered using the IUCN standard. With 35 species, Inversodicraea is the most species-diverse genus of Podostemaceae in continental Africa, to which it is endemic. Four species of Inversodicraea are now known to be sympatric and point endemics at Memv’ele Falls in Cameroon where a hydro-electric dam is being constructed, threatening them with global extinction. Equally, I. tanzaniensis is threatened by proposed hydro-electric projects in Tanzania. In contrast, I. botswana is threatened by sewage discharge and also by bridge construction.
A semantic graph database for the interoperability of 3D GIS data
Authors: Malinverni Eva Savina , Naticchia Berardo , Lerma Garcia Jose Luis , Gorreja Alban , Lopez Uriarte Joaquin , Di Stefano Francesco
Published: August 2020

In the last decades, the use of information management systems in the building data processing led to radical changes to the methods of data production, documentation and archiving. In particular, the possibilities, given by these information systems, to visualize the 3D model and to formulate queries have placed the question of the information sharing in digital format. The integration of information systems represents an efficient solution for defining smart, sustainable and resilient projects, such as conservation and restoration processes, giving the possibilities to combine heterogeneous data. GIS provides a robust data storage system, a definition of topological and semantic relationships and spatial queries. 3D GIS makes possible the creation of three-dimensional model in a geospatial context. To promote the interoperability of GIS data, the present research aims first to analyse methods of conversion in CityGML and IndoorGML model, defining an ontological domain. This has led to the creation of a new enriched model, based on connections among the different elements of the urban model in GIS environment, and to the possibility to formulate queries based on these relations. The second step consists in collecting all data translated into a specific format that fill a graph database in a semantic web environment, while maintaining those relationships. The semantic web technology represents an efficient tool of interoperability that leaves open the possibility to import BIM data in the same graph database and to join both GIS and BIM models. The outcome will offer substantial benefits during the entire project life cycle. This methodology can also be applied to cultural heritage where the information management plays a key role.
Identification of the population source of free-ranging cats threatening endemic species on Tokunoshima Island, Japan
Authors: Kazato Kazuaki , Watari Yuya , Miyashita Tadashi
Published: August 2020

Free-ranging cats Felis silvestris catus are harmful to endemic species, especially on islands. Effective management practices require an understanding of their habitat use and population source at the landscape level. We aimed to identify the source of the free-ranging cat population on Tokunoshima Island, Japan, which harbors a variety of endemic organisms as well as human settlements. Trapping data for the whole island were provided by local governments, and landscape factors (residential, agricultural, and woodlot areas and cattle barn density) affecting cat density were explored. An analysis of live-capture data indicated that the density (per 1 km2) of free-ranging cats was positively correlated with the densities of cattle barns and woodlot areas and negatively correlated with residential areas. An interview survey revealed that nearly half of the cattle barns feed free-ranging cats. The source habitat of free-ranging cats appears to be areas with a high density of cattle barns and a high percentage of woodlots in human-dominated landscapes. Feeding cats in cattle barns may strengthen the bottom-up process of population growth on the island. To reduce the impact of cats on endemic species on Tokunoshima Island, efforts to stop feeding cats in cattle barns are important. Reaching a consensus with stakeholders will require further studies of the ecological risks posed by free-ranging cats.
Progressive multifocal leukoencephalopathy in an HIV patient was diagnosed by 3 times lumbar punctures and 2 times brain biopsies
Authors: Wang Mengyan , Zhang Zhongdong , Shi Jinchuan , Liu Hong , Zhang Binhai , Yan Jun
Published: August 2020

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease of the central nervous system caused by JC virus (JCV) and is difficult to diagnose. We report on a male HIV-positive patient with PML finally diagnosed by 3 times lumbar punctures and 2 times brain biopsies. Negative results of JCV-PCR in cerebrospinal fluid (CSF) do not rule out the diagnosis of PML when clinical manifestations and neuroimaging features suspected PML. It is necessary to obtain new CSF and make repeat tests and even perform brain biopsy.
Spinal adhesive arachnoiditis: three case reports and review of literature
Authors: Jurga Szymon , Szymańska-Adamcewicz Olga , Wierzchołowski Wojciech , Pilchowska-Ujma Emilia , Urbaniak Łukasz
Published: August 2020

Spinal adhesive arachnoiditis is a rare pathology involving pia mater of the spinal cord and nerve roots. It can potentially lead to disability—many patients end up wheelchair-bound due to subsequent paraparesis. It is an infrequent but possible cause of lower extremities weakness in patients with a history of spinal surgery, epidural anaesthesia, myelography or spinal tumors. Three patients, one male and two females, admitted to our unit due to paraparesis presented at least one of the above mentioned risk factors. Each of them had a severe course of illness—progressive paresis of lower extremities. All above cases were diagnosed with spinal adhesive arachnoiditis confirmed with Magnetic Resonance Imaging (MRI) scan—the most sensitive and specific diagnostic tool. Despite conservative treatment and intensive rehabilitation none of the presented patients preserved the ability to mobilise independently. Considering spinal adhesive arachnoiditis in patients with paraparesis and history of typical risk factors should be included in clinical diagnostic procedure.
(Neuro)Inflammatory Component May Be a Common Factor in Chronic Widespread Pain and Restless Legs Syndrome
Authors: Stehlik Romana , Ulfberg Jan
Published: August 2020

Purpose of Review

Recent studies have linked fibromyalgia (nociplastic pain) and depression to neuroinflammation. Restless legs syndrome (RLS) is highly prevalent in CWP (chronic widespread pain) and FMS (fibromyalgia syndrome) as well as in depression. This review focuses on evidence in the relationship between CWP and RLS and possible common pathophysiological mechanisms.

Recent Findings

CWP is chronic pain spread over various locations of the body and is a cardinal sign of fibromyalgia. Poor sleep quality is a common symptom in fibromyalgia as well as high levels of fatigue, poor cognition, and other associated features which include depression, headache, and abdominal pain. Evidence for a bilateral relationship between pain and sleep deficit is robust. The latest research focus is not only on insomnia symptoms in chronic pain but also on other types of sleep disorders such as RLS which is characterized by complaints of an “urge to move” frequently associated with dysesthesias. These sensations can also have painful characteristics. Thus, there is a possible overlap between these two entities. The high prevalence of RLS (33–54%) in CWP has been shown in several studies. The pathophysiological mechanisms behind CWP and RLS are still not completely known, but there is a rising amount of evidence on proinflammatory and neuroinflammatory processes in CWP. In RLS, there are links to dopaminergic dysfunction and more generally to monoaminergic dysfunctional circuits, BID (brain iron deficiency), altered glutamatergic neurotransmission, and genetic traits. Depression is a common comorbidity as well in CWP as RLS, and proinflammatory mechanisms have also been demonstrated in this condition.

The association between CWP and RLS is shown to be high and the pathogenesis of both conditions is still not completely understood. Recent research is focusing on proinflammatory and neuroinflammatory processes, not uniquely emerging in fibromyalgia/CWP, but inflammatory features have been found in depression as well as in sleep deficit. Proinflammatory/neuroinflammatory processes may be an underlying, common factor in both CWP and RLS that future research should investigate further.
Aerodynamic efficacy of adding yaw-wise rotational degree of freedom to an airplane flap
Authors: Chiba Kazuhisa , Komatsu Tatsuro , Ito Takeshi
Published: August 2020

This study scrutinized the aerodynamic change of adding a yaw-wise rotational degree of freedom to a single slotted flap of airplane via computational fluid dynamic analyses. Existing slotted flaps have spanwise constant gaps and are disharmonious with the 3D nature of the flow field. A flap geometry and its angle condition are sensitive to aerodynamic performance; small variations in them must be useful in aerodynamic improvement. To add the yaw-wise rotation to a flap is a lower hurdle than to attain other high-lift systems. Therefore, after defining a simple configuration consisting of a fuselage, a wing, and a single slotted flap, we investigated the mesh dependency to consider the diversity in flow phenomena precisely; we examined the effect of the yaw-wise rotation for the flap on improving the whole lift. To place the flap at suitable yaw-wise rotation angles consequently effected raising the lift. We revealed the physical mechanism that accelerating the fluid in the gap between the wing and the flap changes the separation structure on the flap upper surface and grows the lift.
Data Monitoring for the Chinese Clinical Trials of Remdesivir in Treating Patients with COVID-19 During the Pandemic Crisis
Authors: Shih Weichung J. , Yao Chen , Xie Tai
Published: August 2020

Two phase-III, double-blind, randomized clinical trials of remdesivir plus SOC (standard of care) versus placebo plus SOC have been conducted in Wuhan hospitals by Chinese investigators during the urgent COVID-19 epidemic [ClincalTrials.gov NCT04257656 and NCT04252664]. These trials have been highly anticipated worldwide. We expect investigators of the trials will soon report the clinical and laboratory findings from the medical perspective. This manuscript provides documentary style information on the process of monitoring key data and making recommendations to the sponsor and investigators based on analytical insights when dealing with the emergent situation from the statistical viewpoint. Having monitored data sequentially from 237 patients, we comment on the strength and weakness of the study design and suggest the treatment effect of remdesivir on severe COVID-19 cases. Our experience with using the Dynamic Data Monitoring (DDM) tool has demonstrated its efficiency and reliability in supporting DSMB’s instantaneous review of essential data during the emergent situation. DDM, when used properly by disciplined statisticians, has shown its capability of exploring the trial data flexibly and, in the meantime, protecting the trial’s scientific integrity.
Early pubertal maturation and externalizing behaviors: Examination of peer delinquency as mediator and cognitive flexibility as a moderator
Authors: Stepanyan Sofia T. , Natsuaki Misaki N. , Cheong Yeram , Hastings Paul D. , Zahn‐Waxler Carolyn , Klimes‐Dougan Bonnie
Published: August 2020

Introduction

While peer delinquency is a known mediator between early pubertal timing and externalizing behaviors, little is known about factors that could protect against the adverse influence of peer delinquency. This study assesses the possible moderating role of cognitive flexibility, which is one index of executive functioning that facilitates flexible and adaptive responses to challenging situations. We assessed the interactive influence of peer delinquency and cognitive flexibility in the association between pubertal maturation and externalizing behaviors in boys and girls.

Method

Participants were 220 adolescents (111 boys) from the United States, between the ages of 11 and 16 years (M = 13.2, SD = 1.53) who participated in the Adolescent Emotion Study (AES).

Results

Findings from the cross‐sectional path modeling analyses provided evidence for the mediating role of peer delinquency for boys and girls, indicating that early maturing adolescents tend to affiliate with delinquent peers, which in turn exacerbates externalizing problems. Additionally, the moderating role of cognitive flexibility was also demonstrated for both boys and girls. Region of significance tests revealed that relatively well‐developed cognitive flexibility skills could protect against the adverse influences of peer delinquency, whereas lower levels could exacerbate those negative influences.

Conclusion

These findings suggest that involvement with deviant peers increases vulnerability for both early maturing boys and girls. Additionally, cognitive flexibility was an important moderating factor for adolescents, such that youths with less developed skills would be at a higher risk for psychopathology, whereas those with better development could be protected.
The incidence and factors associated with intraoperative nausea and vomiting during cesarean section under spinal anesthesia, July 2019. An institution based cross sectional study
Authors: Ashagrie Henos Enyew , Filatie Tesera Dereje , Melesse Debas Yaregal , Mustefa SalhYalew
Published: August 2020

ABSTRACT

Background:

Nausea and vomiting is vested in two separate units in the medulla, the chemo receptor trigger zone and the vomiting center. Intra-operative nausea and vomiting during spinal anesthesia for caesarean section are very common and unpleasant event with an incidence of up to 80%. It causes significant distress to the patient and also interferes with the surgical procedure.

Objective:

The study was conducted to assess the incidence and associated factors of intra-operative nausea and vomiting during caesarean section under spinal anesthesia.

Method:

Observational study was conducted from March 20th to May30th 2019 on 373 pregnant mothers who delivered with caesarean section under spinal anesthesia. Statistical analysis was performed using statistical package for social science version 20. The Odds ratios and 95% confidence interval, bivariate and multivariate binary logistic regressions were used to assess the association between dependent and independent variables.

Result:

Among 384 eligible participants, 373 women were involved in the study with the response rate of 97.14%. Out of the total respondents, 152 (40.8%) of them experienced intra-operative nausea and vomiting and 69 (18.5%) of them experienced both nausea and vomiting. Hypotension (AOR = 3.949, 95% CI = 2.098–7.432), intra-operative pain (AOR = 6.152, 95% CI = 2.970–12.745), body mass index >35 kg/m2 (AOR = 4.491, 95% CI = 1.010–19.962) and high risk pregnancy (AOR = 2.222 95% CI = 1.006–4.910) were significantly associated with the occurrence of intraoperative nausea and vomiting.

Conclusion:

The incidence of intra-operative nausea and vomiting was 18.5%. This is a significant intraoperative morbidity that shouldn't be overlooked and needs appropriate intervention according to institutional protocols.

Highlights: