bluuebunny/crossref_metadata_2025_split huggingface dataset:
Contemporary approach to joint hypermobility and related disorders
Authors: Castori Marco , Hakim Alan 
Published: September 2017

Purpose of review
Joint hypermobility is a common, although largely ignored physical sign. Joint hypermobility is often asymptomatic but may be a feature of an underlying genetic disorder with systemic manifestations. The present article presents a comprehensive approach to considering joint hypermobility and clinically related issues in children and adults.

Recent findings
Ehlers–Danlos syndrome (EDS) is an umbrella term for various Mendelian connective tissue disorders sharing joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile EDS is the default diagnosis in many individuals and still lacks of any confirmatory test. There is also a continuous spectrum of phenotypes between asymptomatic, nonsyndromic joint hypermobility, and hypermobile EDS. In 2017, a new international classification of EDSs, joint hypermobility, and related disorders was published. EDSs are now classified in 13 different variants because of mutations in 19 genes. The gap between joint hypermobility and hypermobile EDS is filled by the descriptive diagnosis of ‘hypermobility spectrum disorders’. Alongside the new criteria recommendations for the assessment and management of selected issues related to joint hypermobility such as fatigue and physical therapy have also been published by expert panels.

Summary
Asymptomatic, nonsyndromic joint hypermobility, hypermobility spectrum disorders and EDS (particularly, the hypermobile type) are the most common phenotypes in children and adults with joint hypermobility. Their prompt recognition is crucial to the appropriate application of evidence-based management and the reduction in burden of ill health.
Variceal Hemorrhage and Adverse Liver Outcomes in Patients With Cystic Fibrosis Cirrhosis
Authors: Ye Wen , Narkewicz Michael R. , Leung Daniel H. , Karnsakul Wikrom , Murray Karen F. , Alonso Estella M. , Magee John C. , Schwarzenberg Sarah Jane , Weymann Alexander , Molleston Jean P. ,   CFLDnet research group
Published: September 2017

ABSTRACTObjectives:Cirrhosis occurs in 5% to 10% of cystic fibrosis (CF) patients, often accompanied by portal hypertension. We analyzed 3 adverse liver outcomes, variceal bleeding (VB), liver transplant (LT), and liver‐related death (LD), and risk factors for these in CF Foundation Patient Registry subjects with reported cirrhosis.Methods:We determined 10‐year incidence rates for VB, LT, LD, and all‐cause mortality (ACM), and examined risk factors using competing risk models and Cox‐proportional hazard regression.Results:From 2003 to 2012, 943 participants (41% females, mean age 18.1 years) had newly reported cirrhosis; 24.7% required insulin, 85% had previous pseudomonas. Seventy‐three subjects had reported VB: 38 with first VB and new cirrhosis reported simultaneously and 35 with VB after cirrhosis report. Ten‐year cumulative VB, LT, and LD rates were 6.6% (95% confidence interval [CI]: 4.0, 9.1%), 9.9% (95% CI: 6.6%, 13.2%), and 6.9% (95% CI: 4.0%, 9.8%), respectively, with an ACM of 39.2% (95% CI: 30.8, 36.6%). ACM was not increased in subjects with VB compared to those without (hazard ratio [HR] 1.10, 95% CI: 0.59, 2.08). CF‐related diabetes (HR: 3.141, 95% CI:1.56, 6.34) and VB (HR: 4.837, 95% CI: 2.33, 10.0) were associated with higher LT risk, whereas only worse lung function was associated with increased LD in multivariate analysis. Death rate among subjects with VB was 24% with LT and 20.4% with native liver.Conclusions:VB is an uncommon complication of CF cirrhosis and can herald the diagnosis, but does not affect ACM. Adverse liver outcomes and ACM are frequent by 10 years after cirrhosis report.
The Effect of Ophthalmic Artery Chemosurgery on Immune Function in Retinoblastoma Patients: A Single Institution Retrospective Analysis
Authors: Fischer Cheryl , Petriccione Mary , Vitolano Stephanie , Guarini Edith , Davis Mary Elizabeth , Dunkel Ira J. 
Published: September 2017

Background:
Ophthalmic artery chemosurgery (OAC) is associated with grade 3 and 4 neutropenia, however the effect on T-cell number and function is unknown. The purpose of this retrospective review was to confirm that patients treated with OAC do not develop immunosuppression warranting Pneumocystis pneumonia prophylaxis.

Procedure:
IRB approval was obtained for a single center retrospective review of immune function tests in retinoblastoma patients who received OAC.

Results:
Twenty-three patients received ≥3 cycles of OAC and had immune function testing (absolute CD4 count) performed at a median of 34 days postcompletion of therapy (range, 15 to 63 d). Only 1 patient had a low absolute CD4 count of 189 cells/μL (normal, 359 to 1570 cells/μL) 2 and a half months after IV carboplatin and 28 days after their third dose of OAC. This patient was found to have coexisting hypogammaglobulinemia. Repeat immune function testing normalized through continued OAC treatment.

Conclusions:
Clinically significant immune suppression appears rare following OAC alone, but patients previously treated with IV chemotherapy may be immunosuppressed and may benefit from pneumocystis pneumonia prophylaxis until the CD4 count recovers.
Evaluation of Transient Motion During Gadoxetic Acid–Enhanced Multiphasic Liver Magnetic Resonance Imaging Using Free-Breathing Golden-Angle Radial Sparse Parallel Magnetic Resonance Imaging
Authors: Yoon Jeong Hee , Lee Jeong Min , Yu Mi Hye , Hur Bo Yun , Grimm Robert , Block Kai Tobias , Chandarana Hersh , Kiefer Berthold , Son Yohan 
Published: September 2017

Objectives
The aims of this study were to observe the pattern of transient motion after gadoxetic acid administration including incidence, onset, and duration, and to evaluate the clinical feasibility of free-breathing gadoxetic acid–enhanced liver magnetic resonance imaging using golden-angle radial sparse parallel (GRASP) imaging with respiratory gating.

Materials and Methods
In this institutional review board–approved prospective study, 59 patients who provided informed consents were analyzed. Free-breathing dynamic T1-weighted images (T1WIs) were obtained using GRASP at 3 T after a standard dose of gadoxetic acid (0.025 mmol/kg) administration at a rate of 1 mL/s, and development of transient motion was monitored, which is defined as a distinctive respiratory frequency alteration of the self-gating MR signals. Early arterial, late arterial, and portal venous phases retrospectively reconstructed with and without respiratory gating and with different temporal resolutions (nongated 13.3-second, gated 13.3-second, gated 6-second T1WI) were evaluated for image quality and motion artifacts. Diagnostic performance in detecting focal liver lesions was compared among the 3 data sets.

Results
Transient motion (mean duration, 21.5 ± 13.0 seconds) was observed in 40.0% (23/59) of patients, 73.9% (17/23) of which developed within 15 seconds after gadoxetic acid administration. On late arterial phase, motion artifacts were significantly reduced on gated 13.3-second and 6-second T1WI (3.64 ± 0.34, 3.61 ± 0.36, respectively), compared with nongated 13.3-second T1WI (3.12 ± 0.51, P < 0.0001). Overall, image quality was the highest on gated 13.3-second T1WI (3.76 ± 0.39) followed by gated 6-second and nongated 13.3-second T1WI (3.39 ± 0.55, 2.57 ± 0.57, P < 0.0001). Only gated 6-second T1WI showed significantly higher detection performance than nongated 13.3-second T1WI (figure of merit, 0.69 [0.63–0.76]) vs 0.60 [0.56–0.65], P = 0.004).

Conclusions
Transient motion developed in 40% (23/59) of patients shortly after gadoxetic acid administration, and gated free-breathing T1WI using GRASP was able to consistently provide acceptable arterial phase imaging in patients who exhibited transient motion.
Incidental 131I Activity in the Deltoid Region on Posttherapy Radioiodine Scan
Authors: Strober Mark D. , Callahan Brandon R. 
Published: September 2017

Abstract
A 71-year-old woman underwent a posttherapy radioiodine scan after 131I administration for papillary thyroid carcinoma. On day 1 of the posttreatment hospital isolation, the patient received a Pneumovax injection in the left deltoid muscle. A localized hypersensitivity reaction ensued with development of soft tissue edema and erythema at the Pneumovax injection site. This localized reaction persisted up to the subsequent posttherapy radioiodine scan 5 days after injection. Increased activity at the left deltoid region suggests a false-positive finding related to radiotracer sequestration due to inflammation from a localized postvaccination hypersensitivity reaction.
Solitary Osteogenic Sternum Plasmacytoma on Bone Scintigraphy and FDG PET/CT
Authors: Zhang Ying , Zhang Changming , Zhai Hongyan 
Published: September 2017

Abstract
We reported a rare solitary osteogenic sternum plasmacytoma case. A 49-year-old woman experienced progressing pain in the sternum for 2 years. Abnormal 99mTc-MDP accumulation and increase in 18F-FDG uptake (SUVmax, 4.4) were co-localized with the osteogenic lesion in the sternum body detected by diagnostic CT. The lesion was histologically confirmed as plasma cell neoplasm suggestive of plasmacytoma. The patient had good response to radiotherapy.
Positive Captopril Renography Without Renal Artery Stenosis but a Renal Cell Carcinoma
Authors: Hsieh Ping-Ju , Kuo Yen-Shu , Chen Meng-Lin , Lin Ching-Ling , Su Hung-Yi 
Published: September 2017

Abstract
A positive captopril renography indicates that patient's hypertension is renin dependent, most commonly caused by renal artery stenosis. The authors reported a case of positive captopril renography; however, CT demonstrated that renal arteries were intact, but there was a huge chromophobe renal cell carcinoma. Renin-dependent hypertension was relieved soon after nephrectomy. It is an uncommon cause of positive captopril renography.
131I Whole-Body Scan Incidental Uptake Due to Spermatocele
Authors: Albano Domenico , Motta Federica , Baronchelli Carla , Lucchini Silvia , Bertagna Francesco 
Published: September 2017

Abstract
A 46-year-old man with papillary thyroid cancer post total thyroidectomy was referred for post radioiodine (131I) whole-body scan. Whole-body images revealed intense 131I uptake in the bed thyroid and a focal abnormal uptake in the testicular area. Subsequent SPECT/CT demonstrated that the focal uptake corresponded to the left epididymis, and the pathology report revealed a spermatocele with no immunohistochemical features for thyroid tissue. Many cases of unexpected radioiodine uptake have been reported, and spermatocele could be counted for another possibility of incidental 131I uptake despite an unclear mechanism.
Functional Results and Quality of Life Following Magnetic Anal Sphincter Augmentation in Severely Incontinent Patients
Authors: Kim Mia , Meurette Guillaume , Ragu Ramasamy , Wyart Vincent , Lehur Paul Antoine 
Published: September 2017

Objective:
Magnetic anal sphincter augmentation is a novel surgical option in the treatment of severe fecal incontinence. This study aimed to analyze functional results, quality of life, and satisfaction after implantation in the mid-term, and to identify factors associated with success of this new treatment.

Methods:
All patients, who underwent magnetic anal sphincter augmentation procedure at a single center between December 2008 and January 2016, were consecutively included. Symptom severity [Cleveland Clinic Incontinence Score (CCIS)], quality of life [Fecal-Incontinence Quality of Life Questionnaire (FIQL)], bowel diary data, and patients’ satisfaction were assessed before and after implantation.

Results:
Forty-five patients (43 female), mean (s.d.) age 66.82 (±10.07), were followed for a median of 36 months (range 6–84). Two patients were explanted and 1 lost to follow-up. On a 3-week diary, major leakage rate significantly improved as did CCIS and FIQL. No significant difference was seen for flatus and minor leaks. Postoperative decrease of CCIS by ≥5.5 points correlated best with satisfaction, expressed by 22 patients (48% in intention-to-treat analysis). An independent predictive factor for success after implantation was no previous fecal incontinence surgical treatment.

Conclusions:
Satisfaction, functional, and quality of life outcomes improve significantly following magnetic anal sphincter augmentation.
Outcome Analyses of 15,189 Screenings Via Colonoscopy
Authors: Liu Lan , Gao Hongwei , Yu Weihua , Zhang Shanyan , Guo Jianqiang , Zhu Kongxi 
Published: September 2017

Purpose:
This study investigated the detection rates of common colorectal diseases during colonoscopy procedures to provide reference for clinical diagnoses in China.

Methods:
A total of 15,189 participants, who underwent total colonoscopy, were studied. We analyzed the detection rates of common colorectal diseases in different sex, age, and decade groups.

Results:
The most common indication for colonoscopy is abdominal pain followed by change in bowel habits. Among the 15,189 participants, 5658 cases (37.25%) were normal. The most common positive finding was colorectal polyp (27.32%) followed by nonspecific colitis (12.06%), colorectal cancer (CRC) (7.71%), and ulcerative colitis (4.64%). The frequencies of polyp (31.56% vs. 21.99%; P=0.000) and CRC (8.28% vs. 7.00%; P=0.004) were higher in males than in females. By contrast, ischemic colitis (0.08% vs. 0.31%; P=0.001) and melanosis coli (1.15% vs. 1.87%; P=0.000) were more seen in females than in males. In addition, the detection rates for CRC (2.42% vs. 7.18% vs. 16.67%; P=0.000), colorectal polyp (17.65% vs. 32.27% vs. 34.73%; P=0.000), ischemic colitis (0.09% vs. 0.19% vs. 0.32%; P=0.033), and melanosis coli (0.71% vs. 1.09% vs. 3.21%; P=0.000) increased with age.

Conclusions:
The frequent positive findings were colorectal polyp, nonspecific colitis, and CRC. Patients showing alarming symptoms definitely require colonoscopy. The detection rates for colorectal polyp and melanosis coli were significantly higher in the later decade, so we should focus on these deseases.
Dynamic changes in clonal architecture during disease progression in follicular lymphoma
Authors: Flensburg Christoffer , Sargeant Tobias , Bosma Astrid , Kluin Roelof J. C. , Kibbelaar Robby E. , Hoogendoorn Mels , Alexander Warren S. , W. Roberts Andrew , Bernards René , de Jong Daphne , Majewski Ian J. 
Published: September 2017

ABSTRACTFollicular lymphoma (FL) is typically a slow growing cancer that can be effectively treated. Some patients undergo transformation to diffuse large B cell lymphoma (DLBCL), which is frequently resistant to chemotherapy and is generally fatal. Targeted sequencing of DNA and RNA was applied to identify mutations and transcriptional changes that accompanied transformation in a cohort of 16 patients, including 14 with paired samples. In most cases we found mutations that were specific to the FL clone dominant at diagnosis, supporting the view that DLBCL does not develop directly from FL, but from an ancestral progenitor. We identified frequent mutations inTP53, cell cycle regulators (cyclins and cyclin-dependent kinases) and the PI3K pathway, as well as recurrent somatic copy number variants (SCNVs) on chromosome 3, 7 and 17p associated with transformation. An integrated analysis of RNA and DNA identified allele specific expression changes in oncogenes, includingMYC, that could be attributed to structural rearrangements. By focusing on serial samples taken from two patients, we identified evidence of convergent tumour evolution, where clonal expansion was repeatedly associated with mutations targeting the same genes or pathways. Analysis of serial samples is a powerful way to identify core dependencies that support lymphoma growth.
Insights into Gasdermin D activation from the crystal structure of its C-terminal domain
Authors: Anton Leonie , Sborgi Lorenzo , Hiller Sebastian , Broz Petr , Maier Timm 
Published: September 2017

AbstractGasdermin D (GSDMD) is the central executioner of pyroptosis, a proinflammatory type of cell death. GSDMD is activated by the proinflammatory caspase-1 and caspase-11 via proteolytic cleavage in the linker connecting its N-terminal and C-terminal domain (GSDMDNterm,Cterm). The released N-terminal domain is sufficient to form pores in the plasma membrane, resulting in swelling and subsequent rupture of the cell. Here, we report the crystal structure of the autoinhibitory C-terminal domain of GSDMD at 2.04 Å resolution to further analyse determinants of GSDMD activation. GSDMDCtermadopts a compact helical fold unique to gasdermin proteins. Structural analysis and comparison to other gasdermin proteins reveals a conserved key interface for interactions between GSDMDNtermand GSDMDCterm. Variations in two additional surface patches involved in interdomain interactions in full-length gasdermins suggest a role of these regions in modulating activation pathways, in agreement with biochemical characterization of different gasdermins.
The U2AF homology motif kinase 1 (UHMK1) is upregulated upon hematopoietic cell differentiation
Authors: Barbutti Isabella , Machado-Neto João Agostinho , Arfelli Vanessa Cristina , de Melo Campos Paula , Traina Fabiola , Olalla Saad Sara Teresinha , Archangelo Leticia Fröehlich 
Published: September 2017

AbstractUHMK1 (KIS) is a nuclear serine/threonine kinase that possesses a U2AF homology motif and phosphorylates and regulates the activity of the splicing factors SF1 and SF3b155. Mutations in these components of the spliceosome machinery have been recently implicated in leukemogenesis. The fact that UHMK1 regulates these factors suggests that UHMK1 might be involved in RNA processing and perhaps leukemogenesis. Here we analyzed UHMK1 expression in normal hematopoietic and leukemic cells as well as its function in leukemia cell line.In the normal hematopoietic compartment, markedly higher levels of transcripts were observed in differentiated lymphocytes (CD4+, CD8+and CD19+) compared to the progenitor enriched subpopulation (CD34+) or leukemia cell lines.UHMK1expression was upregulated in megakaryocytic-, monocytic-and granulocytic-induced differentiation of established leukemia cell lines and in erythrocytic-induced differentiation of CD34+cells. No aberrant expression was observed in patient samples of myelodysplastic syndrome (MDS), acute myeloid (AML) or lymphoblastic (ALL) leukemia. Nonetheless, in MDS patients, increased levels ofUHMK1expression positively impacted event free and overall survival.Lentivirus mediated UHMK1 knockdown did not affect proliferation, cell cycle progression, apoptosis or migration of U937 leukemia cells, although UHMK1 silencing strikingly increased clonogenicity of these cells. Thus, our results suggest that UHMK1 plays a role in hematopoietic cell differentiation and suppression of autonomous clonal growth of leukemia cells.
Modelling knowledge integration process in early contractor involvement procurement at tender stage – a Western Australian case study
Authors: Hastie James , Sutrisna Monty , Egbu Charles 
Published: September 2017

Purpose
This paper aims to disseminate the knowledge integration process modelling throughout the phases of the early contractor involvement (ECI) procurement methodology, to optimise the benefit of ECI procurement method. The development of the model was aimed at taking advantage from the associated benefits of integrating knowledge and of ECI procurement. ECI provides contractors with an alternative means to tendering, designing and constructing projects. Thus, this paper explores knowledge interconnectivity and its integration involving numerous disciplines with various stakeholders to benefit from the collaborative environment of ECI.

Design/methodology/approach
The methodology implemented in the research includes a thorough literature review to establish the characteristics of the ECI tender stage as well as the characteristics of knowledge to be integrated in an ECI setting. Following this, an embedded case study research methodology was used involving three healthcare ECI projects undertaken by a Western Australian commercial contractor through 20 semi-structured interviews and project archival study, followed by the development of knowledge integration process models throughout the ECI process of the studied cases.

Findings
The research findings provide the basis to develop a knowledge integration process model throughout the ECI stages. The tender stage was found to be the most crucial stage for knowledge integration, particularly from the main contractor’s perspective to impart change and to influence the project outcome. The outcome of this research identifies the richness and interconnectivity of knowledge throughout the knowledge integration process in an ECI project starting from the intra-organisational knowledge integration process followed by the inter-organisational process of knowledge integration. This inside-out perspective of knowledge integration also revealed the need for mapping the implementation of knowledge integration from instrumental to incremental approach throughout the ECI stages in optimising the intended benefits of integrating knowledge.

Originality/value
This paper reports the development of a knowledge integration process model with the view to optimise the management effectiveness of integrating knowledge in ECI projects. Although knowledge integration and ECI can be considered existing and widely accepted concepts, the novelty of this research lies in the specific use of the knowledge integration process to analyse the knowledge flow, transformation and, hence, management in ECI projects. As it has been acknowledged that knowledge integration is beneficial but also a complex process, the methodology implemented here in modelling the process can be used as the basis to model knowledge integration in other ECI projects to further capitalise from ECI as a collaborative procurement method.
Conservation planning of built heritages of Old Dhaka, Bangladesh
Authors: Huq Ferdous Farhana , Akter Rabeya , Hafiz Roxana , Mamun Abdullah Al , Rahman Mashrekur 
Published: September 2017

Purpose
Built heritage is a unique resource, an irreplaceable expression of the richness and diversity of our past and of the generations who have gone before us. Old Dhaka has an outstanding built heritage that is of significance not only in the local, but also in a national and regional context. But senseless urbanization and ignorance of such an important issue in the existing detailed area plan is destroying the built heritages of Dhaka. As a result, many heritage buildings of Dhaka have been destroyed and the destruction is going on unabated. Therefore, there is a need to re-examine how such destruction can be prevented. The paper aims to discuss these issues.

Design/methodology/approach
This research aims at the identification of heritages, their assessment and classification which is utterly significant for preserving the invaluable heritages. Heritages are classified according to their present condition which will show which type of heritage needs which type of attention.

Findings
The research indicates the way how a conservation planning for heritages can be done in a systematic and logical way. It reveals the present condition of the heritage buildings which will point out the way of preservation. There is no such document available which will tell general people about the most important or rare or significant heritages, the location of these heritages, or their background information. This research addresses these all issues.

Originality/value
To date, no conservation plans were implemented for Dhaka and there are no attempts to improve Old Dhaka through an urban design. The methodological approach in this research is new and effective for conserving heritages.