bluuebunny/crossref_metadata_2025_split huggingface dataset:
Barriers, facilitators and implementation strategies for guideline-adherence in physiotherapy: a scoping review protocol
Authors: Reiter Nils L , Rosen Diane , Erhart Michael , Vogel Barbara 
Published: July 2023

IntroductionGuideline-adherent physiotherapy can improve patient outcomes and reduce costs in the healthcare system. However, although there are numerous guidelines for physiotherapy practice, services are not consistently based on clinical practice guidelines. While various systematic and scoping reviews have highlighted barriers, facilitators and implementation strategies for guideline-adherent practice in other health professions, this scoping review aims to explore the barriers and facilitators for guideline-adherent physiotherapy and summarises the strategies used to implement such practice.Methods and analysisThis scoping review will be based on Arksey and O’Malley’s scoping review methodology and the methodological guidance for conducting scoping reviews published by Joanna Briggs Institute. Relevant publications will be first searched from the beginning of June 2023 on the MEDLINE and CINAHL databases before we expand the search to other databases such as EMBASE, the Cochrane Library and PEDro at the end of June 2023. Two reviewers will independently screen the titles and abstracts of all retrieved citations for inclusion against the eligibility criteria before conducting an independent full-text screening. The criteria will be tested on a sample of abstracts before beginning the abstract review to ensure that they are robust enough to capture any articles that may relate. The extracted data will finally be collated and charted to summarise key findings regarding our research question.Ethics and disseminationThis scoping review will provide an extensive overview of the barriers, facilitators and implementation strategies for guideline-adherent physiotherapy. As scoping reviews are a form of secondary data analysis, ethical review is not required. Results will be disseminated through a peer-reviewed publication and stakeholder meetings.Trial registration numberThis scoping review has been registered on 3 April 2023 on the Open Science Framework underhttps://doi.org/10.17605/OSF.IO/SEUW6.
Drug survival and safety of biosimilars and originator adalimumab in the treatment of psoriasis: a multinational cohort study
Authors: Phan Duc Binh , Jourdain Hugo , González-Quesada Alicia , Zureik Mahmoud , Rivera-Díaz Raquel , Sahuquillo-Torralba Antonio , Descalzo-Gallego Miguel Angel , Lunt Mark , Garcia-Doval Ignacio , Sbidian Emilie , Warren R B , Yiu Zenas Z N 
Published: July 2023

IntroductionPsoriasis is a chronic inflammatory skin disease. Adalimumab is an effective but previously expensive biological treatment for psoriasis. The introduction of biosimilars following the patent expiry of the originator adalimumab Humira has reduced the unit cost of treatment. However, the long-term effectiveness and safety of adalimumab biosimilars for treating psoriasis in real-world settings are uncertain and may be a barrier to widespread usage.Methods and analysisThis study aims to compare the drug survival and safety of adalimumab biosimilars to adalimumab originator for the treatment of psoriasis. We will use both routinely collected healthcare databases and dedicated pharmacovigilance registries from the PsoNet initiative, including data from the UK, France and Spain. We will conduct a cohort study using a prevalent new user design. We will match patients on previous adalimumab exposure time to create two equal-sized cohorts of biosimilar and originator users. The coprimary outcomes are drug survival, defined by the time from cohort entry to discontinuation of the drug of interest; and risk of serious adverse events, defined by adverse events leading to hospitalisation or death. Cox proportional hazards models will be fitted to calculate HRs as the effect estimate for the outcomes.Ethics and disseminationThe participating registries agree with the Declaration of Helsinki and received approval from local ethics committees. The results of the study will be published in scientific journals and presented at international dermatology conferences by the end of 2023.
Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family
Authors: Berry Vanita , Ionides Alexander , Georgiou Michalis , Quinlan Roy A , Michaelides Michel 
Published: July 2023

BackgroundA five generation family has been analysed by whole exome sequencing (WES) for genetic associations with the multimorbidities of congenital cataract (CC), retinitis pigmentosa (RP) and Crohn’s disease (CD).MethodsWES was performed for unaffected and affected individuals within the family pedigree followed by bioinformatic analyses of these data to identify disease-causing variants with damaging pathogenicity scores.ResultsA novel pathogenic missense variant inWFS1: c.1897G>C; p.V633L, a novel pathogenic nonsense variant inRP1: c.6344T>G; p.L2115* and a predicted pathogenic missense variant inNOD2: c.2104C>T; p.R702W are reported. The three variants cosegregated with the phenotypic combinations of autosomal dominant CC, RP and CD within individual family members.ConclusionsHere, we report multimorbidity in a family pedigree listed on a CC register, which broadens the spectrum of potential cataract associated genes to include bothRP1andNOD2.
Intravitreal anti-vascular endothelial growth factor for the treatment of chronic central serous retinopathy: a meta-analysis of the literature
Authors: Palakkamanil Mathew , Munro Monique , Sethi Abhishek , Adatia Feisal 
Published: July 2023

ObjectiveThe purpose of this study was to evaluate the role of anti-vascular endothelial growth factor (anti-VEGF) treatment on the functional and structural parameters of chronic central serous retinopathy (CSR).MethodsPubMed was used to systematically review literature published from 1 January 2009 to 1 July 2022. Studies were included if patients in their cohort had symptoms for more than 3 months, anti-VEGF treatment was provided and the following outcomes were reported: best-corrected visual acuity (BCVA), central macular thickness (CMT) and proportion of subretinal fluid (SRF) resolution.Results339 eyes met inclusion criteria with a mean patient age of 45.8±4.9 years. The weighted mean baseline BCVA for the 20 studies was 0.39±0.23 logMAR, which improved to 0.28±0.24 after treatment with anti-VEGF injections (p=0.069). The weighted baseline CMT for the 20 studies decreased from 395.2±52.0 µm to 243.0±41.9 µm (p<0.001). The weighted overall percentage of SRF resolution was 68.4%.ConclusionAnti-VEGF treatment demonstrated significantly decreased macular thickness and resolution of SRF in the treatment of chronic CSR without any reported adverse effects. However, BCVA did not significantly improve with pharmacotherapy.
Occurrence of uveitis in a population-based cohort of inflammatory bowel diseases followed for 10 years: an observational study
Authors: Granstam Elisabet , Rönnblom Anders 
Published: July 2023

ObjectiveThe coexistence of inflammatory bowel diseases (IBDs) and uveitis has been known for 100 years. The reported frequency by which these conditions appear in the same patient has varied considerably. The aim of this study was to investigate the occurrence of uveitis in a well-defined population-based cohort of patients with IBD including all age groups and followed for at least 10 years.Method and analysisAll newly diagnosed patients with ulcerative colitis and Crohn’s disease in the county of Uppsala between 2005 and 2009 were prospectively followed. At the end of 2022, the medical notes were checked and all contacts with the healthcare system regarding ocular symptoms were scrutinised.ResultsA total of 330 patients with ulcerative colitis and 153 patients with Crohn’s disease were included in the cohort. Four hundred and forty-two of these (91.5%) could be followed for 10 years or until death. Thirteen patients with ulcerative colitis were affected by uveitis (3.9%), and one of the patients with Crohn’s disease (0.7%). Most often the uveitis was diagnosed after the bowel disease (median 8.9 years, 7.7 years SD).ConclusionLow occurrence of uveitis was identified in the IBD population. All affected individuals except one were diagnosed with ulcerative colitis. Most of the patients had their eye disease around 10 years later than their IBD diagnosis. It is suggested that systemic anti-inflammatory treatment for the IBD protects against intraocular inflammation in this cohort.
Rights and duties of genetic counsellors in Germany related to relatives at risk: comparative thoughts on the German Genetic Diagnostics Act
Authors: Schneider Susanne A , Schneider Uwe H 
Published: July 2023

Genetic testing has familial implications. Counsellors find themselves in (moral) conflict between medical confidentiality (towards the patient) and a potential right or even duty to warn at-risk relatives. Legal regulations vary between countries. English literature about German law is scarce. We reviewed the literature of relevant legal cases, focussing on German law, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. This article aims to familiarise counsellors with their responsibilities, compare the situation between countries and point out legally unresolved areas.According to the German Genetic Diagnostics Act (Gendiagnostikgesetz) in case of an ‘avoidable or treatable’ genetic disorder, geneticists ought to confine themselves to the obligated advice to the patient. Whether a breach of the duty of confidentiality can be justified in exceptional cases by ‘necessity as justification’ for actively informing relatives at risk remains legally unclear. In case of a ‘neither avoidable nor treatable’ genetic disease, geneticists should also refrain from actively informing relatives as the justifiable state of emergency does not permit to break the duty of confidentiality.
Pathogenic role of anti-cN1A autoantibodies in sporadic inclusion body myositis
Authors: Yamashita Satoshi , Tawara Nozomu , Zhang Ziwei , Nakane Shunya , Sugie Kazuma , Suzuki Naoki , Nishino Ichizo , Aoki Masashi 
Published: July 2023

BackgroundSporadic inclusion body myositis (sIBM) is an intractable muscle disease that frequently affects elderly people. Autoantibodies recognising cytosolic 5’-nucleotidase 1A (cN1A) were found in the sera of patients with sIBM. However, the pathogenic role of the autoantibodies remained unknown. This study investigated the pathogenic properties of the autoantibodies using active cN1A peptides immunisation.MethodsWild-type C57BL6 mice were injected with three different mouse cN1A peptides corresponding to the previously reported epitope sequences of human cN1A. After confirming the production of autoantibodies to the corresponding cN1A peptides in each group, changes in body weight, exercise capacity by treadmill test and histological changes in mice injected with cN1A peptides or controls were investigated.ResultsAutoantibodies against cN1A were detected in serum samples from mice injected with cN1A peptide. Some groups of mice injected with cN1A peptide showed significant weight loss and decreased motor activity. The number of myofibres with internal nuclei increased in all the peptide-injected groups, with surrounding or invading CD8-positive T cells into myofibres, abnormal protein aggregates and overexpression of p62 and LC3.ConclusionsActive cN1A peptide immunisation partially reproduced the clinical and histological aspects of sIBM in wild-type mice. The murine model demonstrates the pathogenic properties of anti-cN1A autoantibodies to cause sIBM-like histological changes.
Microvascular damage in autoimmune connective tissue diseases: a capillaroscopic analysis from 20 years of experience in a EULAR training and research referral centre for imaging
Authors: Hysa Elvis , Pizzorni Carmen , Sammorì Silvia , Gotelli Emanuele , Cere Andrea , Schenone Carlotta , Ferrari Giorgia , Campitiello Rosanna , Gerli Veronica , Paolino Sabrina , Sulli Alberto , Smith Vanessa , Cutolo Maurizio 
Published: July 2023

ObjectiveNailfold videocapillaroscopy (NVC) allows the detection of microvascular damage in autoimmune connective tissue diseases (CTDs). The prevalence of the morphological capillary findings was retrospectively evaluated in a wide cohort of patients with Raynaud’s phenomenon secondary to a CTD at the time of the first single NVC, independently from their current treatment, autoantibody profile and comorbidities.MethodsOne-thousand-one-hundred-eighty-one patients affected by CTDs were included from 2001 to 2021. The considered CTDs were systemic sclerosis (SSc), undifferentiated connective tissue disease (UCTD), mixed connective tissue disease (MCTD), dermatomyositis (DM), systemic lupus erythematosus, Sjögren’s syndrome and primary antiphospholipid syndrome (aPS). The capillaroscopic parameters were distinguished between scleroderma patterns and non-scleroderma patterns.ResultsGiant capillaries were significantly more frequent in SSc, DM and MCTD than in other CTDs (respectively, in 73%, 73% and 61% of patients, p<0.001 when comparing each rate vs the other CTDs). The mean capillary count was significantly lower in SSc, DM and MCTD (respectively, 7.04±0.18 vs 6.5±0.75 vs 7.7±2 capillaries/linear mm) compared with the other CTDs (p<0.001 for each rate vs the other CTDs). The non-specific abnormalities of capillary morphology were significantly more frequent in SSc, MCTD and aPS (respectively, in 48%, 41% and 36% of cases, all p<0.001 vs each other CTDs).ConclusionThis large size sample of patients with CTDs, collected over 20 years of analysis, confirms the highest prevalence of specific capillaroscopic alterations in patients with SSc, DM and MCTD, when compared with other CTDs.
Stability and Hawking-Page-like phase transition of phantom AdS black holes
Authors: Abdusattar Haximjan 
Published: July 2023

AbstractIn this work, we investigate the thermodynamic stability and phase structure of AdS black holes with either a Maxwell field (where we revisit past studies) or a phantom field. We conduct a comprehensive analysis of the free energy and temperature of these systems in both the canonical and grand canonical ensembles. Our findings reveal the occurrence of a phase transition in the grand canonical ensemble, resembling the Hawking-Page-like phase transition observed between the thermal radiation of AdS spacetime and thermodynamically stable large black holes. We present graphical representations of these phase transitions on free energy-temperature diagrams for the black holes. Completing our study, we obtain the transition temperature, minimum temperature and their dual relations.
Noether symmetry approach in scalar-torsion $$f(T,\phi )$$ gravity
Authors: Duchaniya L. K. , Mishra B. , Said Jackson Levi 
Published: July 2023

AbstractThe Noether Symmetry approach is applied to study an extended teleparallel $$f(T,\phi )$$

f
(
T
,
ϕ
)

gravity that contains the torsion scalar T and the scalar field $$\phi $$
ϕ
in the context of an Friedmann–Lemaître–Robertson–Walker space-time. We investigate the Noether symmetry approach in $$f(T,\phi )$$

f
(
T
,
ϕ
)

gravity formalism with the specific form of $$f(T,\phi )$$

f
(
T
,
ϕ
)

and analyze how to demonstrate a nontrivial Noether vector. The Noether symmetry method is a helpful resource for generating models and finding out the exact solution of the Lagrangian. In this article, we go through how the Noether symmetry approach enables us to define the form of the function $$f(T,\phi )$$

f
(
T
,
ϕ
)

and obtain exact cosmological solutions. We also find the analytical cosmological solutions to the field equations, that is consistent with the Noether symmetry. Our results demonstrate that the obtained solutions enable an accelerated expansion of the Universe. We have also obtained the present value of the Hubble parameter, deceleration parameter, and effective equation of state parameter, which is fit in the range of current cosmological observations.
Investigation of CO2-Sorption Characteristics of Readily Available Solid Materials for Indoor Direct Air Capturing
Authors: Baus Lukas , Nehr Sascha , Maeda Nobutaka 
Published: July 2023

Direct air capturing (DAC) is an energy demanding process for CO2-removal from air. Ongoing research focuses on the potential of indoor air as DAC-feed to profit from currently unused energetic synergies between DAC and the built environment. In this work, we investigated the performance of three different readily available, solid DAC-adsorbers under typical indoor environmental conditions of 16-25°C, 25-60% relative humidity (RH), and CO2-concentrations of less than 800 ppm above atmospheric concentrations. The measured mass-specific CO2-adsorption capacities of K2CO3-impregnated activated carbon, polyethylenimine-snow (PEI-snow), and polyethylenimine (PEI) on silica amount to

6.5
±
0.3

mg

g

−
1

,

52.9
±
4.9

mg

g

−
1

, and

56.9
±
4.2

mg

g

−
1

, respectively. Among the three investigated adsorber materials, PEI on silica is the most promising candidate for DAC-applications as its synthesis is rather simple, the CO2-desorption is feasible at moderate conditions of about 80°C at 100 mbar, and the competing co-adsorption of water does not strongly affect the CO2-adsorption under the investigated experimental conditions.
Spectrum of Response to Platinum and PARP Inhibitors in Germline BRCA–Associated Pancreatic Cancer in the Clinical and Preclinical Setting
Authors: Stossel Chani , Raitses-Gurevich Maria , Atias Dikla , Beller Tamar , Glick Gorman Yulia , Halperin Sharon , Peer Eyal , Denroche Robert E. , Zhang Amy , Notta Faiyaz , Wilson Julie M. , O'Kane Grainne M. , Haimov Talmoud Elina , Amison Nora , Schvimer Michael , Salpeter Seth J. , Bar Vered , Zundelevich Adi , Tirosh Itay , Tal Rotem , Dinstag Gal , Kinar Yaron , Eliezer Yonatan , Ben-David Uri , Gavert Nancy S. , Straussman Ravid , Gallinger Steven J. , Berger Raanan , Golan Talia 
Published: July 2023

Abstract

Germline BRCA–associated pancreatic ductal adenocarcinoma (glBRCA PDAC) tumors are susceptible to platinum and PARP inhibition. The clinical outcomes of 125 patients with glBRCA PDAC were stratified based on the spectrum of response to platinum/PARP inhibition: (i) refractory [overall survival (OS) &lt;6 months], (ii) durable response followed by acquired resistance (OS &lt;36 months), and (iii) long-term responders (OS &gt;36 months). Patient-derived xenografts (PDX) were generated from 25 patients with glBRCA PDAC at different clinical time points. Response to platinum/PARP inhibition in vivo and ex vivo culture (EVOC) correlated with clinical response. We deciphered the mechanisms of resistance in glBRCA PDAC and identified homologous recombination (HR) proficiency and secondary mutations restoring partial functionality as the most dominant resistant mechanism. Yet, a subset of HR-deficient (HRD) patients demonstrated clinical resistance. Their tumors displayed basal-like molecular subtype and were more aneuploid. Tumor mutational burden was high in HRD PDAC and significantly higher in tumors with secondary mutations. Anti–PD-1 attenuated tumor growth in a novel humanized glBRCA PDAC PDX model. This work demonstrates the utility of preclinical models, including EVOC, to predict the response of glBRCA PDAC to treatment, which has the potential to inform time-sensitive medical decisions.

Significance:
glBRCA PDAC has a favorable response to platinum/PARP inhibition. However, most patients develop resistance. Additional treatment options for this unique subpopulation are needed. We generated model systems in PDXs and an ex vivo system (EVOC) that faithfully recapitulate these specific clinical scenarios as a platform to investigate the mechanisms of resistance for further drug development.
This article is highlighted in the In This Issue feature, p. 1749
MHC Class II is Induced by IFNγ and Follows Three Distinct Patterns of Expression in Colorectal Cancer Organoids
Authors: Pickles Oliver J. , Wanigasooriya Kasun , Ptasinska Anetta , Patel Akshay J. , Robbins Helen L. , Bryer Claire , Whalley Celina M. , Tee Louise , Lal Neeraj , Pinna Claudia M.A. , Elzefzafy Nahla , Taniere Philippe , Beggs Andrew D. , Middleton Gary M. 
Published: July 2023

Tumor-specific MHC class II (tsMHC-II) expression impacts tumor microenvironmental immunity. tsMHC-II positive cancer cells may act as surrogate antigen-presenting cells and targets for CD4+ T cell–mediated lysis. In colorectal cancer, tsMHC-II negativity is common, in cell lines due to CIITA promoter methylation. To clarify mechanisms of tsMHC-II repression in colorectal cancer, we analyzed colorectal cancer organoids which are epigenetically faithful to tissue of origin. 15 primary colorectal cancer organoids were treated with IFNγ ± epigenetic modifiers: flow cytometry was used for tsMHC-II expression. qRT-PCR, total RNA sequencing, nanopore sequencing, bisulfite conversion/pyrosequencing, and Western blotting was used to quantitate CIITA, STAT1, IRF1, and JAK1 expression, mutations and promoter methylation and chromatin immunoprecipitation to quantitate H3K9ac, H3K9Me2, and EZH2 occupancy at CIITA.We define three types of response to IFNγ in colorectal cancer: strong, weak, and noninducibility. Delayed and restricted expression even with prolonged IFNγ exposure was due to IFNγ-mediated EZH2 occupancy at CIITA. tsMHC-II expression was enhanced by EZH2 and histone deacetylase inhibition in the weakly inducible organoids. Noninducibility is seen in three consensus molecular subtype 1 (CMS1) organoids due to JAK1 mutation. No organoid demonstrates CIITA promoter methylation.Providing IFNγ signaling is intact, most colorectal cancer organoids are class II inducible. Upregulation of tsMHC-II through targeted epigenetic therapy is seen in one of fifteen organoids. Our approach can serve as a blueprint for investigating the heterogeneity of specific epigenetic mechanisms of immune suppression across individual patients in other cancers and how these might be targeted to inform the conduct of future trials of epigenetic therapies as immune adjuvants more strategically in cancer.Significance:Cancer cell expression of MHC class II significantly impacts tumor microenvironmental immunity. Previous studies investigating mechanisms of repression of IFNγ-inducible class II expression using cell lines demonstrate epigenetic silencing of IFN pathway genes as a frequent immune evasion strategy. Unlike cell lines, patient-derived organoids maintain epigenetic fidelity to tissue of origin. In the first such study, we analyze patterns, dynamics, and epigenetic control of IFNγ-induced class II expression in a series of colorectal cancer organoids.
Roteiro geoturístico no Cemitério São Paulo, SP
Authors: Groppo Sofia , Ramponi Rodrigo Figueiredo , Del Lama Eliane Aparecida 
Published: July 2023

Os cemitérios históricos têm grande valor patrimonial e potencial turístico. São fontes arqueológicas e artísticas que podem refletir de forma fidedigna a cultura de uma população ao longo do tempo. O Cemitério São Paulo, SP, abriga monumentos pétreos importantes feitos por escultores brasileiros e italianos. Entretanto, seu potencial turístico ainda é pouco explorado. Assim, o objetivo deste estudo foi propor um roteiro geoturístico visando agregar aos visitantes do local uma visão do atrimônio histórico e cultural por meio do estudo das Geociências. Após revisão bibliográfica sobre o patrimônio cemiterial da Necrópole São Paulo, realizaram-se visitas in loco para levantar informações detalhadas de cada túmulo (como os tipos de pedra, seu estado de conservação e os artistas ou as marmorarias responsáveis por sua projeção e construção), sendo selecionados, com base nos critérios diversidade litológica, obras de artistas de renome e famílias e/ou personalidades relevantes para a história municipal/estadual, 28 jazigos. A proposta visou apresentar a geodiversidade e os aspectos históricos e culturais das construções, o que resultou em um roteiro geoturístico utilizando linguagem acessível aos visitantes.