bluuebunny/crossref_metadata_2025_split huggingface dataset:
Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study
Authors: Joly Florent , Cohen Camille , Javaugue Vincent , Bender Sébastien , Belmouaz Mohamed , Arnulf Bertrand , Knebelmann Bertrand , Nouvier Mathilde , Audard Vincent , Provot François , Gnemmi Viviane , Nochy Dominique , Goujon Jean Michel , Jaccard Arnaud , Touchard Guy , Fermand Jean Paul , Sirac Christophe , Bridoux Frank 
Published: December 2018

AbstractMonoclonal immunoglobulin deposition disease (MIDD) is a rare complication of B-cell clonal disorders, defined by Congo red negative–deposits of monoclonal light chain (LCDD), heavy chain (HCDD), or both (LHCDD). MIDD is a systemic disorder with prominent renal involvement, but little attention has been paid to the description of extrarenal manifestations. Moreover, mechanisms of pathogenic immunoglobulin deposition and factors associated with renal and patient survival are ill defined. We retrospectively studied a nationwide cohort of 255 patients, with biopsy-proven LCDD (n = 212) (including pure LCDD [n = 154], LCDD with cast nephropathy (CN) [n = 58]), HCDD (n = 23), or LHCDD (n = 20). Hematological diagnosis was monoclonal gammopathy of renal significance in 64% and symptomatic myeloma in 34%. Renal presentation was acute kidney injury in patients with LCCD and CN, and chronic glomerular disease in the other types, 35% of whom had symptomatic extrarenal (mostly hepatic and cardiac) involvement. Sequencing of 18 pathogenic LC showed high isoelectric point values of variable domain complementarity determining regions, possibly accounting for tissue deposition. Among 169 patients who received chemotherapy (bortezomib-based in 58%), 67% achieved serum free light chain (FLC) response, including very good partial response (VGPR) or above in 52%. Renal response occurred in 62 patients (36%), all of whom had achieved hematological response. FLC response ≥ VGPR and absence of severe interstitial fibrosis were independent predictors of renal response. This study highlights an unexpected frequency of extrarenal manifestations in MIDD. Rapid diagnosis and achievement of deep FLC response are key factors of prognosis.
How I treat low von Willebrand factor levels
Authors: Lavin Michelle , O’Donnell James S. 
Published: December 2018

Abstract
Partial quantitative deficiency of plasma von Willebrand factor (VWF) is responsible for the majority of cases of von Willebrand disease (VWD), the most common inherited human bleeding disorder. International consensus guidelines recommend that patients with reduced plasma VWF antigen (VWF:Ag) levels and bleeding phenotypes be considered in 2 distinct subsets. First, patients with marked reductions in plasma VWF levels (&lt;30 IU/dL) usually have significant bleeding phenotypes and should be classified with “type 1 VWD.” In contrast, patients with intermediate reduced plasma VWF levels (in the range of 30-50 IU/dL) should be considered in a separate category labeled “low VWF levels.” These patients with low VWF commonly display variable bleeding phenotypes and often do not have VWF gene sequence variations. Because the pathophysiology underlying low VWF levels remains largely undefined, diagnosis and management of these patients continue to pose significant difficulties. In this article, we present a number of clinical case studies to highlight these common clinical challenges. In addition, we detail our approach to establishing a diagnosis in low VWF patients and discuss strategies for the management of these patients in the context of elective surgery and pregnancy.
Pulmonary rehabilitation in bronchiectasis: a propensity-matched study
Authors: Patel Suhani , Cole Aaron D. , Nolan Claire M. , Barker Ruth E. , Jones Sarah E. , Kon Samantha , Cairn Julius , Loebinger Michael , Wilson Robert , Man William D-C. 
Published: December 2018

International guidelines recommend pulmonary rehabilitation for patients with bronchiectasis, supported by small trials and data extrapolated from chronic obstructive pulmonary disease (COPD). However, it is unknown whether real-life data on completion rates and response to pulmonary rehabilitation are similar between patients with bronchiectasis and COPD.Using propensity score matching, 213 consecutive patients with bronchiectasis referred for a supervised pulmonary rehabilitation programme were matched 1:1 with a control group of 213 patients with COPD. Completion rates, change in incremental shuttle walk (ISW) distance and change in Chronic Respiratory Disease Questionnaire (CRQ) score with pulmonary rehabilitation were compared between groups.Completion rate was the same in both groups (74%). Improvements in ISW distance and most domains of the CRQ with pulmonary rehabilitation were similar between the bronchiectasis and COPD groups (ISW distance: 70versus63 m; CRQ-Dyspnoea: 4.8versus5.3; CRQ-Emotional Function: 3.5versus4.6; CRQ-Mastery: 2.3versus2.9; all p>0.20). However, improvements in CRQ-Fatigue with pulmonary rehabilitation were greater in the COPD group (bronchiectasis 2.1versusCOPD 3.3; p=0.02).In a real-life, propensity-matched control study, patients with bronchiectasis show similar completion rates and improvements in exercise and health status outcomes as patients with COPD. This supports the routine clinical provision of pulmonary rehabilitation to patients with bronchiectasis.
A musical intervention for respiratory comfort during noninvasive ventilation in the ICU
Authors: Messika Jonathan , Martin Yolaine , Maquigneau Natacha , Puechberty Christelle , Henry-Lagarrigue Matthieu , Stoclin Annabelle , Panneckouke Nataly , Villard Serge , Dechanet Aline , Lafourcade Alexandre , Dreyfuss Didier , Hajage David , Ricard Jean-Damien 
Published: December 2018

Discomfort associated with noninvasive ventilation (NIV) may participate in its failure. We aimed to determine the effect of a musical intervention on respiratory discomfort during NIV in patients with acute respiratory failure (ARF).An open-label, controlled trial was performed over three centres. Patients requiring NIV for ARF were randomised to either a musical intervention group (where they received a musical intervention and were subjected to visual deprivation during the first 30 min of each NIV session), a sensory deprivation group (where they wore insulating headphones and were subjected to visual deprivation during the first 30 min of each NIV session), or a control group (where they received NIV as routinely performed). The primary outcome was the change in respiratory discomfort before and after 30 min of the first NIV session.A total of 113 patients were randomised (36 in the musical intervention group, 38 in the sensory deprivation group and 39 in the control group). Median (interquartile range (IQR)) change in respiratory discomfort was 0 (−1; 1) between the musical intervention and control groups (p=0.7). Between groups comparison did not evidence any significant variation of respiratory parameters across time or health-related quality of life (HRQoL) at day-90. The Peri-traumatic Distress Inventory (PDI) at intensive care unit (ICU) discharge was reduced in musical intervention group patients. However, a 30 min musical intervention did not reduce respiratory discomfort during NIV for ARF in comparison to conventional care or sensory deprivation.
Cluster and CART analyses identify large subgroups of adults with cystic fibrosis at low risk of 10-year death
Authors: Burgel Pierre-Régis , Lemonnier Lydie , Dehillotte Clémence , Sykes Jenna , Stanojevic Sanja , Stephenson Anne L. , Paillasseur Jean-Louis 
Published: December 2018

Our goal was to identify subgroups of adults with cystic fibrosis (CF) at low risk of death within 10 years.Factor analysis for mixed data followed by Ward's cluster analysis was conducted using 25 variables from 1572 French CF adults in 2005. Rates of death by subgroups were analysed over 10 years. An algorithm was developed using CART (classification and regression tree) analysis to provide rules for the identification of subgroups of CF adults with low rates of death within 10 years. This algorithm was validated in 1376 Canadian CF adults.Seven subgroups were identified by cluster analysis in French CF adults, including two subgroups with low (∼5%) rates of death at 10 years: one subgroup (22% of patients) was composed of patients with nonclassic CF, the other subgroup (17% of patients) was composed of patients with classic CF but low rates ofPseudomonas aeruginosainfection and diabetes. An algorithm based on CART analysis of data in 2005 allowed us to identify most French adults with low rates of death. When tested using data from Canadian CF adults in 2005, the algorithm identified 287 out of 1376 (21%) patients at low risk (10-year death: 7.7%).Large subgroups of CF adults share low risk of 10-year mortality.
Systematic review of content and quality of idiopathic pulmonary fibrosis review articles
Authors: Milne Kathryn M. , Chan Chrystal , Fisher Jolene H. , de Boer Kaīssa , Ryerson Christopher J. 
Published: December 2018

Narrative reviews are frequently accessed; however, the content and quality of review articles on idiopathic pulmonary fibrosis (IPF) have not been assessed.A systematic review assessed content and quality of narrative review articles that addressed the diagnosis or management of IPF and were published from 2001 to 2015. Article recommendations were assessed relative to contemporary IPF guidelines. Quality was assessed using the DISCERN instrument.Articles were predominantly written by physicians and published in respiratory journals. Conflicts of interest and sources of funding were reported in 52% and 24% of reviews, respectively. European authors were more likely to recommend bronchoscopy (adjusted p=0.02) and were more likely to recommend pirfenidone or nintedanib prior to publication of definitive clinical trials (adjusted p=0.04). A total of 39% of management-focused articles suggested therapies that were never recommended in guidelines. Predictors of higher article quality were citation of the contemporary IPF guideline (p=0.01) and more recent publication (p=0.001).Quality of reviews increased over time; however, review articles frequently made discordant recommendations compared to IPF guidelines. These findings indicate the need for authors, peer reviewers, editors and readers to critically appraise the content and quality of narrative reviews on IPF, and the need for frequent guideline updates to reflect new evidence.
The ubiquitin ligase HECTD1 promotes retinoic acid signaling required for development of the aortic arch
Authors: Sugrue Kelsey F. , Sarkar Anjali A. , Leatherbury Linda , Zohn Irene E. 
Published: December 2018

ABSTRACT
The development of the aortic arch is a complex process that involves remodeling of the bilaterally symmetrical pharyngeal arch arteries (PAAs) into the mature asymmetric aortic arch. Retinoic acid signaling is a key regulator of this process by directing patterning of the second heart field (SHF), formation of the caudal PAAs and subsequent remodeling of the PAAs to form the aortic arch. Here, we identify the HECTD1 ubiquitin ligase as a novel modulator of retinoic acid signaling during this process. Hectd1opm/opm homozygous mutant embryos show a spectrum of aortic arch abnormalities that occur following loss of 4th PAAs and increased SHF marker expression. This sequence of defects is similar to phenotypes observed in mutant mouse models with reduced retinoic acid signaling. Importantly, HECTD1 binds to and influences ubiquitination of the retinoic acid receptor, alpha (RARA). Furthermore, reduced activation of a retinoic acid response element (RARE) reporter is detected in Hectd1 mutant cells and embryos. Interestingly, Hectd1opm/+ heterozygous embryos exhibit reduced retinoic acid signaling, along with intermediate increased expression of SHF markers; however, heterozygotes show normal development of the aortic arch. Decreasing retinoic acid synthesis by reducing Raldh2 (also known as Aldh1a2) gene dosage in Hectd1opm/+ heterozygous embryos reveals a genetic interaction. Double heterozygous embryos show hypoplasia of the 4th PAA and increased incidence of a benign aortic arch variant, in which the transverse arch between the brachiocephalic and left common carotid arteries is shortened. Together, our data establish that HECTD1 is a novel regulator of retinoic acid signaling required for proper aortic arch development.
A retrospective study on pathological and clinical characteristics of 52 cases with the colorectal serrated polyp
Authors: Hua Xu Li , Jun Li Qian , Feng Shen Xiao , Jing Da , Wen Zhu Ya 
Published: December 2018

Background and Objective: Colorectal serrated polyp is considered as histologically heterogeneous lesions with malignant potential. The aim of the study was to evaluate the endoscopic, clinic and pathologic characteristics of colorectal serrated polyps.
Methods: The endoscopic, clinic and pathologic characteristics of 52 cases with colorectal serrated polyps between January 2014 and May 2018 in our hospital were analyzed. retrospectively.
Results: The prevalence of serrated polyps was 0.39% (52/13,346). The proportions of hyperplastic polyp (HP), sessile serrated adenoma/polyp (SSA/P), and traditional serrated adenoma (TSA) of all serrated polyps were 61.5%, 17.3%, and 21.2%, respectively, which showed a lower proportion of TSA and SSA/P and a higher proportion of HP.
Conclusions: The overall detection rate of colorectal serrated polyps was relatively low, and it is necessary to discriminate between SSAPs and HPs during endoscopic examination because of the malignant potential.
How to cite this:Hua XL, Jun LQ, Feng SX, Jing D, Wen ZY. A retrospective study on pathological and clinical characteristics of 52 cases with the colorectal serrated polyp. Pak J Med Sci. 2019;35(1):257-261. doi: https://doi.org/10.12669/pjms.35.1.238
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
From security to precariousness: The case of the Greek mass media sector in neoliberal times
Authors: Dalkavoukis Vassilis , Spyridakis Manos 
Published: December 2018

The paper focuses on the way ex-mass media employees experienced a dramatic passage from safe employment to a precarious condition.It is based on fourteen months ethnographic research (August 2012 to October 2013) in the closing premises of the ALTER TV Channel. In addition, fifteen semi–structured interviews were conducted with employees. In the concluding remarks a new type of working subject is questioned through a) the ‘reinvention’ of forgotten economic processes, b) the motivation of any social network to cope with precariousness and c) the critique of the so called ‘old fashioned’ syndicalism.
MOVIMENTOS SOCIAIS: CONSTRUINDO ALTERNATIVAS PARA SUPERAR OS LIMITES DA DEMOCRACIA REPRESENTATIVA
Authors: Gorczevski Clovis , Bittencourt Friderich Denise 
Published: December 2018

Indagou-se o seguinte: a abertura de espaços e instrumentos de escuta e efetiva participação dos movimentos sociais é uma possibilidade de superação dos limites da democracia representativa? Objetivou-se investigar a democracia representativa, descrevendo-a e apontando seus limites. Também investigou-se os movimentos sociais e suas potencialidades para sanar os déficits de legitimidade da democracia representativa. Para a construção da pesquisa utilizou-se o método de abordagem indutivo, na medida em que, da investigação dos limites da democracia representativa e das possibilidades emancipatórias dos movimentos sociais, construiu-se um modelo democrático condizente com a necessidade de acomodação de interesses que brotam na sociedade plural da atualidade. O procedimento será o bibliográfico. Conclui-se que os movimentos sociais representam o pluralismo cultural das sociedades complexas, e atuam em favor da democracia implantada no pós-Segunda Guerra. Um Estado comprometido com tais valores está obrigado a fomentar e recepcionar as demandas oriundas dos movimentos sociais.
Evaluace tří výukových programů s tématikou permakultury
Authors: Papežová Nikola 
Published: December 2018

Příspěvek se zabývá evaluací tří environmentálních výukových programů vytvořených na základě metodických materiálů, které vznikly v rámci projektu podpořeného MŽP „Přírodní architekti“, inspirovaného mezinárodním projektem „Children in permaculture“. Výukové programy byly vytvořeny pro žáky 4. a 5. ročníku a zaměřeny na seznámení s permakulturou, jejími principy a využitím pro každodenní život. Z evaluace všech tří výukových programů formou pretestu a posttestu vyplývá, že všechny tři programy významně zvyšují znalosti žáků dané problematiky. Celkově lze hodnotit nově vytvořené výukové programy jako přínosný doplněk pro rozšíření učiva základní školy.
Interleukin-2 receptor common gamma chain (IL2RG) defects present a diagnostic challenge
Authors: Weisser Caroline , Bulman Dennis E. , Flamenbaum Kayla , Roifman Maian 
Published: December 2018

Background: The protein encoded by interleukin-2 receptor common gamma chain (IL2RG) is an important signaling component of many interleukin receptors, including those of interleukin-2, -4, -7, and -21, known as the common gamma chain. Mutations in the gene encoding the common gamma chain of the interleukin-2 receptor cause X-linked severe combined immunodeficiency (SCID). In this report, we present an unknown genetic defect of a patient diagnosed with SCID whose genetic analysis was performed 2 decades later. Methods: Whole genome sequencing and Sanger confirmation were used to identify a novel frameshift mutation in IL2RG. Massively parallel sequencing of genes associated with SCID were performed on the patient’s mother and sister. Results: Next generation sequencing techniques identified a heterozygous frame-shift deletion in the gene encoding the common gamma chain of IL2RG in our patient. The patient’s mother had a low level mosaicism for the same deletion. The sister had no detectable deletion. Conclusion: We have identified a novel mutation in IL2RG resulting in an X-linked SCID phenotype. The genetic analysis of the patient’s mother revealed a mosaicism which was not passed on to his sister. The importance of genetic analysis in family members and SCID patients with an unknown genetic defect should be emphasized for family planning and subsequent genetic counseling. Statement of novelty: Genetic testing is an extremely important component in evaluating severe combined immunodeficiency as it impacts treatment course and prognosis, and allows for genetic analysis and counselling of family members.
A novel homozygous mutation in CIITA resulting in MHC Class II deficiency in an adult patient
Authors: Hsieh Jane , Mandola Amarilla , Betschel Stephen D. 
Published: December 2018

Introduction: Major histocompatibility (MHC) class II deficiency is a rare autosomal recessive primary immunodeficiency with fewer than 200 patients reported worldwide. Patients usually present within their first year of life with severe and recurrent infections, failure to thrive, and chronic diarrhea. The disorder is caused by absent or reduced MHC class II expression on cell surfaces, leading to defective cellular and humoral immune responses. The disease is associated with a poor prognosis, with most patients dying in early childhood due to infectious complications. Aim: To report the clinical, immunological, and genetic features of an adult patient with MHC class II deficiency who did not undergo hematopoietic stem cell transplant (HSCT). We also explore proposed theories as to why some patients with MHC class II deficiency survive to adulthood, beyond the typical life expectancy. Results: We present a 23-year-old gentleman who was diagnosed with MHC class II deficiency at the age of 6 months based on a near complete absence of Human Leukocyte Antigen - DR isotype on peripheral blood mononuclear cells and CD4+ lymphopenia. He is one of a few patients with the condition reported in the literature to have survived to adulthood despite not having undergone HSCT. Next generation sequencing revealed a novel homozygous mutation in the CIITA gene, 1 of 4 genes involved in the regulation of MHC class II transcription. Discussion: MHC class II deficiency is considered a single entity phenotypic condition where the main problem lies in reduced or absent MHC class II expression and results in downstream immunologic effects, including CD4+ lymphopenia and impaired antigen specific responses. However, phenotypic differences between patients are emerging as more cases are described in the literature. Our patient, now 23 years old, has survived significantly beyond life expectancy despite not having HSCT. Statement of novelty: We describe a case of an adult patient diagnosed with MHC class II deficiency due to a novel homozygous intronic splice site variant in the CIITA gene.
Resisting Europe, setting Greece free: Facebook political discussions over the Greek referendum of the 5th July 2015
Authors: Constantinou Maria 
Published: December 2018

Abstract
The unexpected resounding NO of the Greek referendum of the 5th July to continued austerity echoed a great disapproval and rejection of a ‘Germany-dominated Europe’ and a strong claim for radical change in Europe while fuelling reactions, which in social networks were discursively and symbolically constructed to express and intensify anti-Brussels and anti-Germany sentiments and to mobilise resistance. The present paper sets out to investigate how discursive constructions and representations of the Self and the Other contributed to bringing closer the NO partisans and to reinforcing a discourse of resistance for political, economic and social change. Relying on comments from Tsipras’ Facebook page, this study lies within Critical Discourse Studies and uses corpus-based methodologies to detect the most frequent words and semantic fields, which seemed to be building a dichotomous discourse between US and THEM while enhancing an in-group cohesiveness around the pre-referendum charismatic personality of Alexis Tsipras.
Online hate propaganda during election period: The case of Macedonia
Authors: Trajkova Zorica , Neshkovska Silvana 
Published: December 2018

Abstract
The paper offers a critical discursive and pragmatic analysis of a corpus of hateful Facebook and Twitters status updates of politicians, political activists and voters in the 2016 pre-and-post election period, in Macedonia. Aiming to determine how power is exerted on social media, the paper focuses on identifying the stance social media users take when posting messages with political content. The analysis first attempted to unveil what speech acts the hateful posts are predominantly composed of (e.g. assertive, directives, expressives), what roles the authors of the posts normally assume, who the hateful political discourse in the given socio-political context is directed to, as well as what are some of the predominant linguistic strategies underlying the analysed hateful comments. The results show that, by using mostly assertive and expressive speech acts, social media users assume mainly the roles of analysts and judges and only subsequently the one of activists, they mostly address politicians directly and they use a lot of negative lexis, rhetorical figures and boosters as interpersonal metadiscourse markers to express their negative stance and exert power and dominance.