bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature
Authors: Dupuis Olivier , Delagrange Laura , Dupuis-Girod Sophie 
Published: January 2020

Abstract
Background
Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and central nervous system.
The aim here was to carry out a review of the literature on HHT complications during pregnancy in order to guide management decisions.

Main body
A literature review was carried out to analyse all publications on complications that occurred during pregnancy in women with HHT. The PubMed/Medline and Scopus databases were searched. The complications observed in HHT women during pregnancy were then described.
The authors identified 5 case series and 31 case reports that describe the evolution of 1577 pregnancies in 630 women with HHT. The overall maternal death rate described in the case series was estimated at 1.0% of pregnancies in the case series and 2 maternal deaths occurred in 31 pregnancy case reports. Severe maternal complications occurred in 2.7 to 6.8% of pregnancies in the case series. Severe complications occurred mostly in the second and third trimester in non-diagnosed and non-screened HHT patients. Severe complications were related to visceral involvement. The most frequent complications were related to pulmonary arteriovenous malformations (PAVMs) (haemothorax (n = 10), haemoptysis (n = 4), and severe hypoxaemia (n = 3)). Neurological complications were related to PAVMs in one case (right to left shunt) and to cerebral arteriovenous malformations (CAVM) and intracranial haemorrhage in 2 cases. Complications were related to hepatic arteriovenous malformations (HAVMs) in 8 cases (acutely decompensated heart failure due to hepatic involvement (n = 1), dyspnoea related to heart failure (n = 5), and hepatobiliary necrosis (n = 2)).

Conclusion
Based on the literature review, most pregnancies in HHT women occur normally. However, these pregnancies should be considered high-risk, given the potential life-threatening events related to AVM rupture. Furthermore, there is currently no international consensus regarding the medical follow-up of pregnancy in women with HHT and the aim here was to carry out a review of the literature in order to guide screening and management decisions for this rare disease.
Inter- and intraobserver agreement of three classification systems for lateral clavicle fractures – reliability comparison between two specialist groups
Authors: Rauer Thomas , Boos Matthias , Neuhaus Valentin , Ellanti Prasad , Kaufmann Robert Alexander , Pape Hans-Christoph , Allemann Florin 
Published: January 2020

AbstractBackgroundAlthough of great value in the management of lateral clavicle fractures, substantial variation in their classification exists. We performed a retrospective study to address the inter- and intraobserver reliability of three different classification systems for lateral clavicle fractures.MethodsRadiographs of 20 lateral clavicle fractures that represented a full spectrum of adult fracture patterns were graded by five experienced radiologists and five experienced trauma surgeons according to the Orthopaedic Trauma Association (OTA), the Neer, and the Jäger/Breitner classification systems. This evaluation was performed at two different time points separated by 3 months. To measure the observer agreement, the Fleiss kappa coefficient (κ) was applied and assessed according to the grading of Landis and Koch.ResultsThe overall interobserver reliability showed a fair agreement in all three classification systems. For the OTA classification system, the interobserver agreement showed a mean kappa value of 0.338 ranging from 0.350 (radiologists) to 0.374 (trauma surgeons). Kappa values of the interobserver agreement for the Neer classification system ranged from 0.238 (trauma surgeons) to 0.276 (radiologists) with a mean κ of 0.278. The Jäger/Breitner classification system demonstrated a mean kappa value of 0.330 ranging from 0.306 (trauma surgeons) to 0.382 (radiologists).The overall intraobserver reliability was moderate for the OTA and the Jäger/Breitner classification systems, while the overall intraobserver reliability for the Neer classification system was fair.The kappa values of the intraobserver agreements showed, in all classification systems, a wide range with the OTA classification system ranging from 0.086 to 0.634, the Neer classification system ranging from 0.137 to 0.448, and a range from 0.154 to 0.625 of the Jäger/Breitner classification system.ConclusionsThe low inter- and intraobserver agreement levels exhibited in all three classification systems by both specialist groups suggest that the tested lateral clavicle fracture classification systems are unreliable and, therefore, of limited value. We should recognize there is considerable inconsistency in how physicians classify lateral clavicle fractures and therefore any conclusions based on these classifications should be recognized as being somewhat subjective.
Chromatin interactome mapping at 139 independent breast cancer risk signals
Authors: Beesley Jonathan , Sivakumaran Haran , Moradi Marjaneh Mahdi , Lima Luize G. , Hillman Kristine M. , Kaufmann Susanne , Tuano Natasha , Hussein Nehal , Ham Sunyoung , Mukhopadhyay Pamela , Kazakoff Stephen , Lee Jason S. , Michailidou Kyriaki , Barnes Daniel R. , Antoniou Antonis C. , Fachal Laura , Dunning Alison M. , Easton Douglas F. , Waddell Nicola , Rosenbluh Joseph , Möller Andreas , Chenevix-Trench Georgia , French Juliet D. , Edwards Stacey L. 
Published: January 2020

Abstract
Background
Genome-wide association studies have identified 196 high confidence independent signals associated with breast cancer susceptibility. Variants within these signals frequently fall in distal regulatory DNA elements that control gene expression.

Results
We designed a Capture Hi-C array to enrich for chromatin interactions between the credible causal variants and target genes in six human mammary epithelial and breast cancer cell lines. We show that interacting regions are enriched for open chromatin, histone marks for active enhancers, and transcription factors relevant to breast biology. We exploit this comprehensive resource to identify candidate target genes at 139 independent breast cancer risk signals and explore the functional mechanism underlying altered risk at the 12q24 risk region.

Conclusions
Our results demonstrate the power of combining genetics, computational genomics, and molecular studies to rationalize the identification of key variants and candidate target genes at breast cancer GWAS signals.
Trial Forge Guidance 2: how to decide if a further Study Within A Trial (SWAT) is needed
Authors: Treweek Shaun , Bevan Simon , Bower Peter , Briel Matthias , Campbell Marion , Christie Jacquie , Collett Clive , Cotton Seonaidh , Devane Declan , El Feky Adel , Galvin Sandra , Gardner Heidi , Gillies Katie , Hood Kerenza , Jansen Jan , Littleford Roberta , Parker Adwoa , Ramsay Craig , Restrup Lynne , Sullivan Frank , Torgerson David , Tremain Liz , von Elm Erik , Westmore Matthew , Williams Hywel , Williamson Paula R. , Clarke Mike 
Published: January 2020

AbstractThe evidence base available to trialists to support trial process decisions—e.g. how best to recruit and retain participants, how to collect data or how to share the results with participants—is thin. One way to fill gaps in evidence is to run Studies Within A Trial, or SWATs. These are self-contained research studies embedded within a host trial that aim to evaluate or explore alternative ways of delivering or organising a particular trial process.SWATs are increasingly being supported by funders and considered by trialists, especially in the UK and Ireland. At some point, increasing SWAT evidence will lead funders and trialists to ask: given the current body of evidence for a SWAT, do we need a further evaluation in another host trial? A framework for answering such a question is needed to avoid SWATs themselves contributing to research waste.This paper presents criteria on when enough evidence is available for SWATs that use randomised allocation to compare different interventions.
Second generation effects of larval metal pollutant exposure on reproduction, longevity and insecticide tolerance in the major malaria vector Anopheles arabiensis (Diptera: Culicidae)
Authors: Jeanrenaud Alexander C. S. N. , Brooke Basil D. , Oliver Shüné V. 
Published: January 2020

AbstractBackgroundMembers of theAnopheles gambiaecomplex breed in clean, sunlit temporary bodies of water. Anthropogenic pollution is, however, altering the breeding sites of the vectors with numerous biological effects. Although the effects of larval metal pollution have previously been examined, this study aims to assess the transgenerational effects of larval metal pollution on the major malaria vectorAn. arabiensis.MethodsTwo laboratory strains ofAn. arabiensis, SENN (insecticide-susceptible) and SENN-DDT (insecticide-resistant), were used in this study. After being bred in water polluted with either cadmium chloride, copper nitrate or lead nitrate, several life history characteristics that can have epidemiological implications (fertility, apoptotic damage to reproductive structures, adult longevity and insecticide tolerance) were examined in the adults and compared to those of adults bred in clean water.ResultsAll metal treatments reduced fecundity in SENN, but only lead treatment reduced fertility in SENN-DDT. Cadmium chloride exposure resulted in apoptosis and deformation of the testes in both strains. After breeding generation F0 in polluted water, F1 larvae bred in clean water showed an increase in longevity in SENN-DDT adult females. In contrast, after breeding the F0 generation in polluted water, longevity was reduced after cadmium and copper exposure in the F1 generation. Larval metal exposure resulted in an increase in insecticide tolerance in adults of the SENN strain, with SENN-DDT adults gaining the greatest fold increase in insecticide tolerance.ConclusionsThis study demonstrates that a single exposure to metal pollution can have transgenerational effects that are not negated by subsequent breeding in clean water.
New approach to solutions of a class of singular fractional q-differential problem via quantum calculus
Authors: Liang Sihua , Samei Mohammad Esmael 
Published: January 2020

AbstractIn the present article, by using the fixed point technique and the Arzelà–Ascoli theorem on cones, we wish to investigate the existence of solutions for a non-linear problems regular and singular fractionalq-differential equation$$ \bigl({}^{c}D_{q}^{\alpha }f\bigr) (t) = w \bigl(t, f(t), f'(t), \bigl({}^{c}D_{q}^{ \beta }f \bigr) (t) \bigr), $$(cDqαf)(t)=w(t,f(t),f′(t),(cDqβf)(t)),under the conditions$f(0) = c_{1} f(1)$f(0)=c1f(1),$f'(0)= c_{2} ({}^{c}D_{q} ^{\beta } f) (1)$f′(0)=c2(cDqβf)(1)and$f''(0) = f'''(0) = \cdots =f^{(n-1)}(0) = 0$f″(0)=f‴(0)=⋯=f(n−1)(0)=0, where$\alpha \in (n-1, n)$α∈(n−1,n)with$n\geq 3$n≥3,$\beta , q \in J=(0,1)$β,q∈J=(0,1),$c_{1} \in J$c1∈J,$c_{2} \in (0, \varGamma _{q} (2- \beta ))$c2∈(0,Γq(2−β)), the functionwis$L^{\kappa }$Lκ-Carathéodory,$w(t, x_{1}, x_{2}, x_{3})$w(t,x1,x2,x3)and may be singular and${}^{c}D_{q}^{\alpha }$Dqαcthe fractional Caputo typeq-derivative. Of course, here we applied the definitions of the fractionalq-derivative of Riemann–Liouville and Caputo type by presenting some examples with tables and algorithms; we will illustrate our results, too.
FDG-PETCT versus contrast-enhanced computed tomography in diagnosis of post-therapeutic colorectal cancer recurrence and metastases
Authors: Chalabi Nivine Abdel Moneim , Bassiouny Reem Hassan , El Sedek Mohamed Abobakr 
Published: January 2020

Abstract
Background
This study was designed to assess the role of 18F-FDG CT was able to detect additional/CT in post-therapeutic surveillance of colorectal cancer patients as compared with contrast-enhanced CT to allow early detection of recurrent and metastatic cases amenable for curative surgery and thus improve the overall survival of patients.

Results
Of the total 100 patients, 70 proved to have metastasis or local recurrent disease by the standard reference modalities. One hundred eighty-two diseased regions were detected in these 70 patients. PET/CT was positive in 174 regions (95.6%) whereas CECT was positive in 118 regions (64.8%). PET/CT was superior to CECT in detection of hepatic focal lesions, metastatic lymph nodes, pulmonary metastases, and peritoneal and suprarenal metastases whereas both were equal in detection of osseous deposits. CECT detected four lesions that were missed by PET/CT, and these were hepatic metastases from mucinous adenocarcinoma.

Conclusion
PET/CT is a better method to evaluate post-therapeutic colorectal cancer patients. It detected viable residual tumor cells in operative bed scar, small LNs, hepatic focal lesions, peritoneal deposits, pulmonary masses, bone deposits, and suprarenal deposits with significantly higher specificity and sensitivity than CECT avoiding unnecessary surgeries.
International Harmonization of Provisional Diagnostic Criteria for ERBB2-Amplified Metastatic Colorectal Cancer Allowing for Screening by Next-Generation Sequencing Panel
Authors: Fujii Satoshi , Magliocco Anthony M. , Kim Jihun , Okamoto Wataru , Kim Jeong Eun , Sawada Kentaro , Nakamura Yoshiaki , Kopetz Scott , Park Woong-Yang , Tsuchihara Katsuya , Kim Tae Won , Raghav Kanwal , Yoshino Takayuki 
Published: January 2020

PURPOSE ERBB2 amplification (human epidermal growth factor receptor 2 positivity [HER2+]) in metastatic colorectal cancer (mCRC) has important therapeutic implications that necessitate the need for accurate diagnostics. The study purpose was to establish and validate harmonized diagnostic criteria for HER2+ mCRC among 3 groups (GI-SCREEN-Japan, NCTN-SWOG-USA, and Korea). PATIENTS AND METHODS We assessed HER2 status by immunohistochemistry (IHC), ERBB2/CEP17 ratio, gene copy number (GCN) by fluorescence in situ hybridization (FISH), and copy number variation (CNV) using two targeted next-generation sequencing (NGS) panels. Tumor samples from 475 and 16 patients with mCRC in exploratory and validation cohorts, respectively, were used for cross-validation of the NGS panels. RESULTS Consensus diagnostic criteria among the 3 groups for HER2+ mCRC were established as follows: IHC 3+ or IHC 2+ and ERBB2/CEP17 ratio by FISH ≥ 2.0, tumor content > 10% for surgically resected specimens, and necessary tumor content not defined for biopsy specimens. The median GCN and CNV for HER2+ patients were 10.9 and 27.7 compared with 2.5 ( P < .0001) and 3.5 ( P < .0001), respectively, in HER2-negative patients. These findings were validated in a validation cohort (GCN, 16.2 v 2.4 [ P = .0002]; CNV, 42.5 v 2.0 [ P = .0003]). GCN correlated with CNV in both cohorts (exploratory, r = 0.90; validation, r = 0.97; P < .0001). CNV in cross-validation of the 2 NGS panels also showed a strong correlation ( r = 0.98; P < .0001). CNV in patients who fulfilled the consensus criteria was > 4.0 in all, which demonstrates the accuracy of the IHC/FISH criteria and cross-validation of NGS panels. CONCLUSION We have established and verified harmonized diagnostic criteria for HER2+ and demonstrated consistency between IHC/FISH and CNV determined by NGS in mCRC.
Classic and Nonclassic Apparent Mineralocorticoid Excess Syndrome
Authors: Carvajal Cristian A , Tapia-Castillo Alejandra , Vecchiola Andrea , Baudrand Rene , Fardella Carlos E 
Published: January 2020

Abstract

Context
Arterial hypertension (AHT) is one of the most frequent pathologies in the general population. Subtypes of essential hypertension characterized by low renin levels allowed the identification of 2 different clinical entities: aldosterone-mediated mineralocorticoid receptor (MR) activation and cortisol-mediated MR activation.

Evidence Acquisition
This review is based upon a search of Pubmed and Google Scholar databases, up to August 2019, for all publications relating to endocrine hypertension, apparent mineralocorticoid excess (AME) and cortisol (F) to cortisone (E) metabolism.

Evidence Synthesis
The spectrum of cortisol-mediated MR activation includes the classic AME syndrome to milder (nonclassic) forms of AME, the latter with a much higher prevalence (7.1%) than classic AME but different phenotype and genotype. Nonclassic AME (NC-AME) is mainly related to partial 11βHSD2 deficiency associated with genetic variations and epigenetic modifications (first hit) and potential additive actions of endogenous or exogenous inhibitors (ie, glycyrrhetinic acid-like factors [GALFS]) and other factors (ie, age, high sodium intake) (second hit). Subjects with NC-AME are characterized by a high F/E ratio, low E levels, normal to elevated blood pressure, low plasma renin and increased urinary potassium excretion. NC-AME condition should benefit from low-sodium and potassium diet recommendations and monotherapy with MR antagonists.

Conclusion
NC-AME has a higher prevalence and a milder phenotypical spectrum than AME. NC-AME etiology is associated to a first hit (gene and epigene level) and an additive second hit. NC-AME subjects are candidates to be treated with MR antagonists aimed to improve blood pressure, end-organ damage, and modulate the renin levels.
Model fidelity of group antenatal and postnatal care: a process analysis of the first implementation of this innovative service model by the Preterm Birth Initiative-Rwanda
Authors: Butrick Elizabeth , Lundeen Tiffany , Phillips Beth S. , Tengera Olive , Kambogo Antoinette , Uwera Yvonne Delphine Nsaba , Musabyimana Angele , Sayinzoga Felix , Nzeyimana David , Murindahabi Nathalie , Musange Sabine , Walker Dilys 
Published: January 2020

Background: For a large trial of the effect of group antenatal care on perinatal outcomes in Rwanda, a Technical Working Group customized the group care model for implementation in this context. This process analysis aimed to understand the degree of fidelity with which the group antenatal care model was implemented during the trial period. Methods: We used two discreet questionnaires to collect data from two groups about the fidelity with which the group antenatal care model was implemented during this trial period. Group care facilitators recorded descriptive data about each visit and self-assessed process fidelity with a series of yes/no checkboxes. Master Trainers assessed process fidelity with an 11-item tool using a 5-point scale of 0 (worst) to 4 (best). Results: We analyzed 2763 questionnaires completed by group care facilitators that documented discreet group visits among pregnant and postnatal women and 140 questionnaires completed by Master Trainers during supervision visits. Data recorded by both groups was available for 84 group care visits, and we compared these assessments by visit. Approximately 80% of all group visits were provided as intended, with respect to both objective measures (e.g. group size) and process fidelity. We did not find reliable correlations between conceptually-related items scored by Master Trainers and self-assessment data reported by group visit facilitators. Conclusions: We recommend both the continued participation of expert observers at new and existing group care sites and ongoing self-assessment by group care facilitators. Finally, we present two abbreviated assessment tools developed by a Rwanda-specific Technical Working Group that reviewed these research results.
ANALYSIS OF THE PASTORAL STRATEGIC PLANNING PRIORITIES OF THE VICARIATE EPISCOPAL OF TONSEA OF THE DIOCESE OF MANADO
Authors: Ohoitimur Johanis , Krejci James , Raco Jozef Richard , Raton Yulius , Taroreh Frankie 
Published: January 2020

Strategic planning is commonly used in profit-oriented institutions. However, it is rarely applied to non-profit organizations such as churches. The Holy Bible reveals the extensive use of strategic management by the believers as documented both in the Old and New Testament, in regards to the implementation of strategic planning to organize the people of God. The Vicariate Episcopal of Tonsea of the Diocese of Manado, as a local Catholic Church Community decided on applying strategic planning methods to rank priorities of tasks required to meet their pastoral mission. Using the Analytical Hierarchy Process, the study reveals that the ranking of the key elements of their mission, the program of the Ministry of the Word and Sacrament, was the highest priority at 23.8%, followed by preserving the treasury of faith of 20.1%, then the fellowship and leadership with 19.7%, promoting the dignity of the laity with 14.4%, the Catholic education with 11.9% and the last was managing the Church property with 10.2%. The highest ranked sub-criteria were; organizing pastoral structure (7.6%), followed by the upgrading catechetic program (7.2%), then role model and competency of liturgy leadership (7.0%). This study provides direction to the parish priests of the Vicariate Episcopal of Tonsea and provides a methodology to formulate their strategic plans and best utilize their resources. This study demonstrated the importance of the Analytical Hierarchy Process in determining the priority of the programs identified by the Church. The researchers recommend further and deeper research on other Vicariates of the Diocese of Manado.
Bacterial isolates from bryozoan Pleurocodonellina sp.: Diversity and antimicrobial potential against pathogenic bacteria
Authors: Asagabaldan Meezan Ardhanu , Bedoux Gilles , Bourgougnon Nathalie , Kristiana Rhesi , Ayuningrum Diah , Sabdono Agus , Trianto Agus , Radjasa Ocky Karna 
Published: January 2020

Abstract. Asagabaldan MA, Bedoux G, Bourgougnon N, Kristiana R, Ayuningrum D, Sabdono A, Trianto A, Radjasa OK. 2019. Bacterial isolates from bryozoan Pleurocodonellina sp.: Diversity and antimicrobial potential against pathogenic bacteria. Biodiversitas 20: 2528-2535. There is an urgent need to discover new compounds with antibacterial activity, which can be developed into lead structures for the treatment of human disease caused by multidrug-resistant (MDR) bacteria. In this study, we focussed on bryozoan-associated bacteria to screen them toward antibacterial activities, since the microbiome of these organisms can still be regarded as under-investigated. Most of the few publications about bryozoan-associated bacteria focused on taxonomy and the potential as producers of antibacterial natural products were neglected. Four specimens of bryozoan Pleurocodonellina sp. were collected from Teluk Awur, Jepara in Java Sea, Indonesia. Therefrom, 56 bacterial strains were isolated, and 17 displayed antibacterial activities against MDR bacteria Pseudomonas aruginosa, Klebsiella pneumoniae, Acinetobacter baumannii, Enterobacter cloacae, and methicillin-resistant Staphylococcus aureus (MRSA). Taxonomic identification of the bacteria by 16S rRNA gene sequencing revealed them belonging to the genera Virgibacillus, Pseudoalteromonas, Halomonas, and Bacillus. Most interestingly, the genus Virgibacillus was dominantly obtained from the Pleurocodonellina sp. specimens, i.e., 12 active isolates. Nevertheless, the best activities against MDR bacteria (both Gram-positive and Gram-negative) were contributed to isolates showing >99% identity to Pseudoalteromonas. The results further suggest adding the genus Virgibacillus as bacteria associated with bryozoan, since to the best of our knowledge there were no reports of this genus isolated from bryozoan.