bluuebunny/crossref_metadata_2025 huggingface dataset:
‘Do I have the capacity to make capacity judgements?’ Researcher reflections from a person-centred dementia support study
Authors: Griffiths Sarah , Gude Alex , Greene Leanne , Weston Lauren , Sutcliffe Caroline L , Wheat Hannah , Oh Tomasina M , Byng Richard
Published: February 2022

Background and purpose

Adults lacking capacity are under-represented in research; therefore, the evidence-base surrounding their support needs is inferior compared to other populations. Involving this group in research is fraught with challenges, including researcher uncertainties about how to carry out capacity judgements. Whilst ethical guidelines and principles provide overarching guidance, there is a lack of detailed guidance and evidence-based training, incorporating practical ‘on the ground’ strategies and advice on communication practices. Experiences and reflections on research procedures used to gauge and address capacity are under reported, resulting in a lack of shared knowledge within the field.

Design

To help address this, we engaged in researcher (co)meta-reflection on the informed capacity judgement procedure for initial consent, within our current, person-centred dementia intervention feasibility study. Our objective was to identify areas to improve our approach, but to also put forward suggestions for wider change within ethical research practice.

Results

Findings reveal challenges and facilitators relating to six areas: ‘Conducting time sensitive research whilst remaining person-centred and building relationships’; ‘Information sharing and supporting communication’; ‘Applying the process flexibly’; ‘The role of the carer and the consultee process’; ‘Judging assent and dissent’ and ‘Researcher related factors’. We questioned our ‘capacity to make capacity judgements’ in terms of both our skills and research time constraints.

Conclusions

Based on our experiences, we argue for greater open discussion between researchers, Patient and Public Involvement contributors and Research Ethics Committees at initial project planning stages. We recommend training and guidance focuses on building researcher skills in applying a standard process flexibly, emphasising naturalistic, conversational approaches to capacity judgement. A crucial consideration for funders is how this time-intensive and sensitive work should be factored into bid application templates and funding grants. Learnings from this article have potential to inform evidence-based guidance and training for researchers, consultees, funders, reviewers and ethics committees.
The (in)accuracies of floating leaves: How people with varying experiences of dementia differently position the same visual metaphor
Authors: Putland Emma
Published: February 2022

Metaphors help shape the social world. Yet, with research and language guidelines focusing primarily on the stigmatising potential of verbal representations, much greater attention is needed regarding visual metaphors’ role in perpetuating and challenging particular views of dementia. Through semi-structured interviews and focus groups, this paper explores how people with dementia and their carers and/or loved ones evaluate one prevalent visual metaphor for dementia that maps autumnal trees losing leaves onto the brain/head. Analysis considers three main responses to the metaphor, that: (1) it does not depict dementia; (2) it meaningfully explains a biomedical account of progressive brain deterioration; and (3) it reinforces inaccurate and/or ‘hopeless’ discourses of what having dementia involves, with individuals suggesting creative alterations to better fit their counter discourses. These findings foreground the importance of attending to subjectivity, nuance and multi-layered discourses within visual metaphors, which can indirectly convey stigmatising representations.
Detection of shallow wall-thinning of pipes using a flexible interdigital transducer-based scanning laser Doppler vibrometer
Authors: Kang To , Han Seong-Jin , Han Soonwoo , Kim Kyung-Mo , Kim Dong-Jin
Published: February 2022

Interdigital transducer (IDT)-based scanning laser Doppler vibrometers (SLDVs) have recently been developed to detect shallow defects in plates. An IDT-based SLDV was augmented with Lamb wave frequency fusion capability to enable the imaging of defects across the entire depth of a plate. Dry-coupled IDTs are a type of field-deployable IDT that do not require the attachment of a couplant to the structure. However, this technique is not applicable to the analysis of shallow wall thinning, because IDTs composed of lead zirconium titanate (PZT) cannot be attached to the curved surface of a structure. To address this issue, we developed a new type of IDT—the flexible IDT—that can be bent along the circumferential direction of a pipe. To set the gap spacing of the flexible IDT, the wavenumber sensitivity and minimum distance from the reference mode (MDRM) was calculated, and the S 0 mode is selected to ensure high-wavenumber sensitivity above the threshold of the MDRM. The proposed flexible IDT-based SLDV was tested by using it to visualize the wall thinning on pipes with 4%, 6%, and 20% thinning. The results of this study will contribute toward the development of systems that improve on existing planar laser scanning schemes and enable shallow defect detection in pipes using laser ultrasonics.
Clinical Results of Arthroscopic Partial Trapeziectomy With Suture-Button Suspensionplasty for Thumb Carpometacarpal Arthritis
Authors: Maeda Akemi , Ikeguchi Ryosuke , Noguchi Takashi , Yamawaki Rie , Nankaku Manabu , Ando Maki , Yoshimoto Koichi , Sakamoto Daichi , Matsuda Shuichi
Published: February 2022

Background:

This study represents the clinical results, especially range of motion (ROM) improvement, of arthroscopic partial trapeziectomy with suture-button suspensionplasty for symptomatic grade II and III thumb carpometacarpal arthritis with a minimum 1-year follow-up.

Methods:

Thirty-two patients (mean: 67.5 years) with grade II and III thumb carpometacarpal arthritis treated with arthroscopic partial trapeziectomy with suture-button suspensionplasty were retrospectively followed up for at least 1 year. The physical assessments included ROM, pain visual analogue scale (VAS), strength, and the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. The physical variables were retrospectively compared before surgery and at the final follow-up.

Results:

Preoperative radial abduction and palmar abduction (45.4 ± 16.4° and 54.3 ± 13.9°, respectively) were significantly increased at the final follow-up (59.7 ± 16.9° and 65.5 ± 14.2°, respectively). Preoperative VAS score, pinch strength, and DASH score (70.5 ± 14.0, 57.2 ± 24.8% and 36.8 ± 14.8, respectively) were also significantly improved at the final follow-up (7.9 ± 9.1, 91.0 ± 39.6%, and 11.7 ± 10.5, respectively). Complications involved 1 case of irritation of the superficial branch of the radial nerve and 1 case of dystonia. Two suture-buttons were removed due to patient discomfort.

Conclusions:

A significant increase in ROM and pain relief was obtained after suture-button suspensionplasty with arthroscopic partial trapeziectomy.
Compliance to hand hygiene and its determinant factors among Community Health Care Providers in Community Clinics: an observational study in Bangladesh
Authors: Rahman Md Hafizur , Hassan Md Nazmul , Khan Md Shafiqul Islam , Hasanuzzaman Md , Awal Nurullah
Published: February 2022

Background

Healthcare-associated infections caused by poor hand hygiene (HH) practices can affect both the care seekers and the health care providers (HCPs) while providing primary health care. No study has been conducted on the compliance of HH practices among the primary level HCPs in Bangladesh.

Objective

The study aimed to assess the compliance rates of HH and its determinant factors among Community Health Care Providers (CHCPs) in Community Clinics (CC).

Methods

A cross-sectional study was conducted from September 2019 to February 2020 among 150 randomly selected CHCPs with functional HH facilities in Patuakhali district, Bangladesh. Structured interviews and observation tools were used to collect data.

Results

Good HH compliance among CHCPs was found to be 16.7% (95% CI: 11.3–21.3). Out of all 1218 possible HH opportunities, only 255 (20.9%) resulted in any HH action. Presence of 70% alcohol-based hand sanitiser at the point of care (aOR: 6.4, 95% CI: 1.1–38.3), HH training (aOR: 4.6, 95% CI: 1.1–18.9), displayed visual cues (aOR: 4.4, 95% CI: 1.1–17.7), knowledge about HH (aOR: 3.8, 95% CI: 1.1–13.6) and number of HH opportunities (aOR: 0.6, 95% CI: 0.4–0.8) were factors associated with HH compliance.

Discussion

Overall HH compliance among CHCPs was relatively low. It was recommended to implement multimodal HH improvement strategies, including a continuous training program, supply of alcohol-based hand rub, reminder, provision of five moments of HH in the training modules and feedback on HH performance.
Implementing a Neurohospitalist Program Improves Stroke Care Metrics and Patient Satisfaction Scores
Authors: Pierre-Louis Renée E. , Pannikodu Kelly , Madhoun Maher , Hartnett Josette , Rose Suzanne
Published: February 2022

Objective

Compare the differences in health outcomes and patient satisfaction between a neurohospitalist model of care and a community-based neurologists model at a single community-based teaching hospital among in-patients diagnosed with a cerebrovascular accident (CVA).

Methods

Data was collected from the Stamford Hospital’s electronic medical records system. An assessment of patient health outcomes and satisfaction scores was conducted, comparing both discrete and continuous variables between the two time periods. An omnibus P-value of 0.05 ( P < 0.05) was considered statistically significant.

Results

The sample consisted of 341 patients between the two periods, pre-period n = 168 (49.3%) post-period n = 173 (50.7%). Door to lab and door to tPA times decreased significantly between pre- and post-periods ( P = 0.003 and P = 0.002, respectively) as did the number of MRIs ( P < 0.001). In addition, statistically significant increases were found between pre-period and post-period percentages, all increasing over time: stroke education ( P < 0.001), discharged on anticoagulant medication ( P < 0.001), and discharged on anti-thrombolytic medication ( P = 0.019). Patient satisfaction scores demonstrated mean gain across both periods for five of six items. Two items “Doctor’s Concern of my Questions/Worries” and “Skill of Doctors” demonstrated statistical significance ( P = 0.020 and P = 0.029, respectively).

Conclusions

The introduction of a neurohospitalist service at a community-based teaching hospital improved patient health outcomes on time to intervention, stroke education, discharge medications as well as patient satisfaction. Therefore, it may be beneficial for hospitals to implement a neurohospitalist model of care for their patients presenting with CVA.
The Rise of the East Asian Gaming Industry: A Value-Added Chain Among the East Asian Game Companies During 2000–2010
Authors: Chen Laichi
Published: February 2022

From a historical perspective, this paper examines how these Asian game companies developed during the period 2000–2010. This research attempts to discern the relationships among the East Asian game companies when they become both game buyers and providers. Based on the model of the global value chain, suggested by Gereffi and others (2005), the results show that, first, the popularity of online games in the intra-Asian market is based on a collaborative relationship, while Korean and Chinese produced games are successfully operated in other markets. Second, the online game business became segmented in East Asia when game companies, in different markets, with their own advantages, were able to play different roles in order to add value to the modular form of the global value chain. Third, the value chains are not evolving along a single trajectory, if economic interdependence among game suppliers and buyers are further examined.
Mössbauer and Raman characterization of iron-loaded woody charcoal: effects of Fe3+-dispersion in wood on reduction of Fe3+ and graphitization in carbonization
Authors: Yamagishi Takayuki , Yamauchi Shigeru , Shibutani Sakae , Suzuki Hikaru , Takayama Tsutomu , Sakai Yoichi
Published: February 2022

An Fe3+-impregnation method was improved to disperse Fe3+ in wood powder more homogeneously, and the wood powder was carbonized at various temperatures. The obtained iron-loaded charcoal samples were analyzed using Mössbauer and Raman spectroscopy to understand the effects of the improved method on the reduction of Fe3+ and graphitization. G′(2D)-band was adopted as a marker of graphitic structure formation among Raman scattering due to sp2-carbon. Mössbauer and Raman characterization confirmed that the reduction from Fe3+ to Fe0 is closely related with the graphitization in charcoal; however, both the chemical changes progressed rapidly from a much lower temperature-range and graphitization occurred more uniformly compared with charcoal synthesized using the previous method containing no decompression-impregnation processes. Moreover, the effects of holding time at carbonization temperature and Fe3+ content in the wood powder were examined in terms of relationship between the reduction of Fe3+ and graphitization. It was suggested that there were multiple reaction paths to graphitization in carbonization.
The relationship of weather with daily physical activity and the time spent out of home in older adults from Germany – the ActiFE study
Authors: Klimek Matthias , Peter Raphael Simon , Denkinger Michael , Dallmeier Dhayana , Rapp Kilian , Rothenbacher Dietrich , Klenk Jochen ,   the ActiFE study group, Böhm B. , Geiger H. , Lukas A. , Stingl J. , Riepe M. , Rapp K. , Scharffetter-Kochanek K. , Koenig W. , Steinacker J. M. , Ludolph A. , Nagel G. , Peter R.
Published: February 2022

Background

There is a need for a comprehensive evaluation of the associations between varieties of weather conditions on the time spent out-of-home (TOH) and on walking duration (WD) among older adults. We aim to investigate the extent to which various weather parameters (temperature, solar radiation, sunshine duration, humidity, windspeed, and rain) determine daily WD the TOH in older adults.

Methods

The ActiFE (Activity and Function in Older People in Ulm) study is a prospective study of participants aged 65 years or older who wore an accelerometer and kept a movement diary in up to three temporally separated waves from 2009 to 2018 for a duration up to seven days per wave (up to three weeks in summary). We used weather data from a weather station near the participants‘ homes. Age-adjusted and gender-stratified generalized mixed models were used to predict WD and TOH (with 95% confidence interval (CI)) within and between weather categories. Generalized additive models were computed for the single predictions at the weather quartile boundaries. Cubic splines (with 95% pointwise confidence bands (CB)) visualized the continuous course of the weather values.

Results

Higher temperatures, solar radiation and more hours of sunshine, led to an increase in WD and TOH, while higher precipitation, humidities and windspeeds led to a decrease. Women had in general higher WD and TOH times than men.

Conclusions

Our data suggest that weather parameters have a considerable influence on PA and TOH. Future analyses and interpretation of PA data should therefore account for weather parameters.
Genomic architecture of phenotypic extremes in a wild cervid
Authors: Anderson S. J. , Côté S. D. , Richard J. H. , Shafer A. B. A.
Published: February 2022

Identifying the genes underlying fitness-related traits such as body size and male ornamentation can provide tools for conservation and management and are often subject to various selective pressures. Here we performed high-depth whole genome re-sequencing of pools of individuals representing the phenotypic extremes for antler and body size in white-tailed deer (Odocoileus virginianus). Samples were selected from a tissue repository containing phenotypic data for 4,466 male white-tailed deer from Anticosti Island, Quebec, with four pools representing the extreme phenotypes for antler and body size after controlling for age. Our results revealed a largely homogenous population but detected highly divergent windows between pools for both traits, with the mean allele frequency difference of 14% for and 13% for antler and body SNPs in outlier windows, respectively. Genes in outlier antler windows were enriched for pathways associated with cell death and protein metabolism and some of the most differentiated windows included genes associated with oncogenic pathways and reproduction, processes consistent with antler evolution and growth. Genes associated with body size were more nuanced, suggestive of a highly complex trait. Overall, this study revealed the complex genomic make-up of both antler morphology and body size in free-ranging white-tailed deer and identified target loci for additional analyses.
Natterin-like depletion by CRISPR/Cas9 impairs zebrafish (Danio rerio) embryonic development
Authors: Seni-Silva Ana Carolina , Maleski Adolfo Luis Almeida , Souza Milena Marcolino , Falcao Maria Alice Pimentel , Disner Geonildo Rodrigo , Lopes-Ferreira Monica , Lima Carla
Published: February 2022

Background

The Natterin protein family was first discovered in the venom of the medically significant fish Thalassophryne nattereri, and over the last decade natterin-like genes have been identified in various organisms, notably performing immune-related functions. Previous findings support natterin-like genes as effector defense molecules able to activate multiprotein complexes driving the host innate immune response, notably due to the pore-forming function of the aerolysin superfamily members. Herein, employing a combination of the CRISPR/Cas9 depletion system, phenotype-based screening, and morphometric methods, we evaluated the role of one family member, LOC795232, in the embryonic development of zebrafish since it might be implicated in multiple roles and characterization of the null mutant is central for analysis of gene activity.

Results

Multiple sequence alignment revealed that the candidate natterin-like has the highest similarity to zebrafish aep1, a putative and better characterized fish-specific defense molecule from the same family. Compared to other species, zebrafish have many natterin-like copies. Whole-mount in situ hybridization confirmed the knockout and mutant embryos exhibited epiboly delay, growth retardation, yolk sac and heart edema, absent or diminished swim bladder, spinal defects, small eyes and head, heart dysfunction, and behavioral impairment. As previously demonstrated, ribonucleoproteins composed of Cas9 and duplex guide RNAs are effective at inducing mutations in the F0 zebrafish.

Conclusions

The considerably high natterin-like copies in zebrafish compared to other species might be due to the teleost-specific whole genome duplication and followed by subfunctionalization or neofunctionalization. In the present work, we described some of the natterin-like features in the zebrafish development and infer that natterin-like proteins potentially contribute to the embryonary development and immune response.
Association between circadian variation of heart rate and mortality among critically ill patients: a retrospective cohort study
Authors: Zhang Jingjing , Du Linyun , Li Jiamei , Li Ruohan , Jin Xuting , Ren Jiajia , Gao Ya , Wang Xiaochuang
Published: February 2022

Background

Heart rate (HR) related parameters, such as HR variability, HR turbulence, resting HR, and nighttime mean HR have been recognized as independent predictors of mortality. However, the influence of circadian changes in HR on mortality remains unclear in intensive care units (ICU). The study is designed to evaluate the relationship between the circadian variation in HR and mortality risk among critically ill patients.

Methods

The present study included 4,760 patients extracted from the Multiparameter Intelligent Monitoring in Intensive Care II database. The nighttime mean HR/daytime mean HR ratio was adopted as the circadian variation in HR. According to the median value of the circadian variation in HR, participants were divided into two groups: group A (≤ 1) and group B (> 1). The outcomes included ICU, hospital, 30-day, and 1-year mortalities. The prognostic value of HR circadian variation was investigated by multivariable logistic regression models and Cox proportional hazards models.

Results

Patients in group B (n = 2,471) had higher mortality than those in group A (n = 2,289). Multivariable models revealed that the higher circadian variation in HR was associated with ICU mortality (odds ratio [OR], 1.393; 95% confidence interval [CI], 1.112–1.745; P = 0.004), hospital mortality (OR, 1.393; 95% CI, 1.112–1.745; P = 0.004), 30-day mortality (hazard ratio, 1.260; 95% CI, 1.064–1.491; P = 0.007), and 1-year mortality (hazard ratio, 1.207; 95% CI, 1.057–1.378; P = 0.005), especially in patients with higher SOFA scores.

Conclusions

The circadian variation in HR might aid in the early identification of critically ill patients at high risk of associated with ICU, hospital, 30-day, and 1-year mortalities.
Construction of genetic classification model for coronary atherosclerosis heart disease using three machine learning methods
Authors: Peng Wenjuan , Sun Yuan , Zhang Ling
Published: February 2022

Background

Although the diagnostic method for coronary atherosclerosis heart disease (CAD) is constantly innovated, CAD in the early stage is still missed diagnosis for the absence of any symptoms. The gene expression levels varied during disease development; therefore, a classifier based on gene expression might contribute to CAD diagnosis. This study aimed to construct genetic classification models for CAD using gene expression data, which may provide new insight into the understanding of its pathogenesis.

Methods

All statistical analysis was completed by R 3.4.4 software. Three raw gene expression datasets (GSE12288, GSE7638 and GSE66360) related to CAD were downloaded from the Gene Expression Omnibus database and included for analysis. Limma package was performed to identify differentially expressed genes (DEGs) between CAD samples and healthy controls. The WGCNA package was conducted to recognize CAD-related gene modules and hub genes, followed by recursive feature elimination analysis to select the optimal features genes (OFGs). The genetic classification models were established using support vector machine (SVM), random forest (RF) and logistic regression (LR), respectively. Further validation and receiver operating characteristic (ROC) curve analysis were conducted to evaluate the classification performance.

Results

In total, 374 DEGs, eight gene modules, 33 hub genes and 12 OFGs (HTR4, KISS1, CA12, CAMK2B, KLK2, DDC, CNGB1, DERL1, BCL6, LILRA2, HCK, MTF2) were identified. ROC curve analysis showed that the accuracy of SVM, RF and LR were 75.58%, 63.57% and 63.95% in validation; with area under the curve of 0.813 (95% confidence interval, 95% CI 0.761–0.866, P < 0.0001), 0.727 (95% CI 0.665–0.788, P < 0.0001) and 0.783 (95% CI 0.725–0.841, P < 0.0001), respectively.

Conclusions

In conclusion, this study found 12 gene signatures involved in the pathogenic mechanism of CAD. Among the CAD classifiers constructed by three machine learning methods, the SVM model has the best performance.
Diagnosis and treatment of traumatic duodenal rupture in children
Authors: Luo Yuanyuan , He Xiaobing , Geng Lanlan , Ouyang Runxian , Xu Yingyi , Liang Yufeng , Wu Jinhui , Zhang Hong , Ye Zhihua , Zou Rongjun , Wu Qiang , Chai Chengwei
Published: February 2022

Background

The purpose of this study was to investigate the diagnosis and treatment experience of traumatic duodenal ruptures in children.

Methods

Clinical data were collected from four children suffering from a traumatic duodenal rupture who were admitted to and treated by our hospital from January 2012 to December 2020. The early diagnosis and treatment, surgical plan, postoperative management, complications, and prognosis of each child were analyzed. The key points and difficulties of the diagnosis and treatment for this type of injury are summarized.

Results

One child had an extreme infection caused by drug-resistant bacteria, which resulted in severe complications, including wound infection, dehiscence, and an intestinal fistula. One child developed an anastomotic stenosis after the duodenostomy, which improved following an endoscopic balloon dilatation. The other two children had no relevant complications after their operations. All four patients were cured and discharged from hospital. The average hospital stay was 48.25 ± 26.89 days. The follow-up period was 0.5 to 1 year. No other complications occurred, and all children had a positive prognosis.

Conclusions

The early identification of a duodenal rupture is essential, and surgical exploration should be carried out proactively. The principles of damage-control surgery should be followed as much as possible during the operation. Multidisciplinary cooperation and management are both important to reduce the occurrence of postoperative complications and improve cure rates.
Dizziness and benign paroxysmal positional vertigo among retirement home residents: a cross-sectional descriptive and interventional study
Authors: Müller Rainer , Zangger Peter , Straumann Dominik , Bögli Stefan Y.
Published: February 2022

Background

The prevalence of dizziness increases with age. We aimed to determine the point prevalence of dizziness and, in particular, of benign paroxysmal positional vertigo (BPPV) among retirement home residents. Furthermore, we aimed to evaluate the efficacy of a 2-axis turntable based BPPV treatment.

Methods

We contacted all large retirement homes in or around the city of Zurich (Switzerland). 10 retirement homes (with a total of 536 residents) agreed to participate in this study. 83 rejected inquiries by residents led to a potential study population of 453 residents. After a structured interview evaluating the presence and characteristics of dizziness, all willing patients were tested for positional vertigo and nystagmus on a portable and manually operated 2-axis turntable that was transported to the retirement home. Testing consisted of the Dix-Hallpike and supine roll maneuvers to both sides. Participants were immediately treated with the appropriate liberation maneuver whenever BPPV was diagnosed. Otherwise, taking the resident’s medical history, a neuro-otological bedside examination, and a review of the available medical documentation was used to identify other causes of dizziness.

Results

Out of the 453 residents, 75 (16.6%; average age: 87.0 years; 68% female) were suffering from dizziness presently or in the recent past and gave their consent to participate in this study. Among the participants tested on the turntable (n = 71), BPPV was present in 11.3% (point prevalence). Time-related properties, triggering factors and qualitative attributes of vertigo or dizziness were not significantly different between the dizzy participants with and those without BPPV. In all BPPV patients, appropriate liberation maneuvers were successful.

Conclusions

BPPV could be demonstrated in about one tenth of retirement home residents with dizziness or recent dizziness. Such point prevalence of BPPV translates to a much higher yearly prevalence if one assumes that BPPV is not present on every day. Our finding suggests that retirement home residents suffering from dizziness should be regularly tested for BPPV and treated with appropriate liberation maneuvers, ideally on turntable to reduce strain.

Trial registration

ClinicalTrials.gov Identifier NCT03643354.
Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report
Authors: Omori Ayumi , Katayama Kan , Saiki Ryosuke , Masui Satoru , Suzuki Kei , Kanii Yoshinori , Tsujimoto Kayo , Nakamori Shiro , Kurita Tairo , Murata Tomohiro , Inoue Takahiro , Dohi Kaoru
Published: February 2022

Background

Nutcracker syndrome (NCS) is characterized by compression of the left renal vein (LRV) between the aorta and the superior mesenteric artery. While rare, NCS was reported to be accompanied by double inferior vena cava (IVC). We herein report a case of Noonan syndrome (NS) with double IVC who presented with macrohematuria and proteinuria.

Case presentation

The patient was a 23-year-old man, who had been diagnosed with NS due to RIT1 mutation, after showing foamy macrohematuria 3 weeks previously. A physical examination revealed low-set ears and a webbed neck. A urinalysis showed hematuria and proteinuria, and urinary sediments showed more than 100 isomorphic red blood cells per high-power field. His proteinuria and albuminuria concentrations were 7.1 and 4.5 g/g⋅Cr, respectively. Three-dimensional contrast-enhanced computed tomography (CT) showed double IVC and narrowing of the LRV after interflow of the left IVC. The aortomesenteric angle on a sagittal reconstruction of the CT image was 14.7°. Cystoscopy revealed a flow of macrohematuria from the left ureteral opening. On Doppler ultrasonography, there was scant evidence to raise the suspicion of the nutcracker phenomenon. Since severe albuminuria continued, a left kidney biopsy was performed. Light microscopy showed red blood cells in Bowman’s space and the tubular lumen. Electron microscopy revealed disruption of the glomerular basement membrane (GBM). Vulnerability of the GBM was suspected and a genetic analysis revealed a heterozygous mutation at c.4793 T > G (p.L1598R) in the COL4A3 gene. Screening for coagulation disorders revealed the factor VIII and von Willebrand factor (vWF) values were low, at 47.6 and 23%, respectively. A multimer analysis of vWF showed a normal multimer pattern and he was diagnosed with von Willebrand disease type 1. As the bleeding tendency was mild, replacement of factor VIII was not performed. His macrohematuria and proteinuria improved gradually without treatment, and his urinalysis results have been normal for more than 6 months.

Conclusions

The present case showed macrohematuria and proteinuria due to NCS in NS with double IVC and von Willebrand disease type 1. The macrohematuria and proteinuria originated from glomerular hemorrhage because of vulnerability of the GBM due to COL4A3 mutation.
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
Authors: Durand Christelle M. , Angelini Chloé , Michaud Vincent , Delleci Claire , Coupry Isabelle , Goizet Cyril , Trimouille Aurelien
Published: February 2022

Background

VPS13D is a large ubiquitin-binding protein playing an essential role in mitophagy by regulating mitochondrial fission. Recently, VPS13D biallelic pathogenic variants have been reported in patients displaying variable neurological phenotypes, with an autosomic recessive inheritance.

The objectives of the study were to determine the genetic etiology of a patient with early onset sporadic progressive spastic ataxia, and to investigate the pathogenicity of VPS13D variants through functional studies on patient’s skin fibroblasts.

Case presentation

We report the case of a 51-year-old patient with spastic ataxia, with an acute onset of the disease at age 7. Walking difficulties slowly worsened over time, with the use of a wheelchair since age 26. We have used trio-based whole-exome sequencing (WES) to identify genes associated with spastic ataxia. The impact of the identified variants on mitochondrial function was assessed in patient’s fibroblasts by imaging mitochondrial network and measuring level of individual OXPHOS complex subunits. Compound heterozygous variants were identified in VPS13D: c.946C > T, p.Arg316* and c.12416C > T, p.(Ala4139Val). Primary fibroblasts obtained from this patient revealed an altered mitochondrial morphology, and a decrease in levels of proteins from complex I, III and IV.

Conclusions

Our findings confirmed implication of VPS13D in spastic ataxia and provided further support for mitochondrial defects in patient’s skin fibroblasts with VPS13D variants. This report of long-term follow up showed a slowly progressive course of the spastic paraplegia with cerebellar features. Furthermore, the performed functional studies could be used as biomarker helping diagnosis of VPS13D-related neurological disorders when molecular results are uneasy to interpret.
Comparison of outcomes between intracapsular resection and pseudocapsule-based extracapsular resection for pituitary adenoma: a systematic review and meta-analysis
Authors: Zhang Xiang , Wang Yan-Gang , Tan Jiahe , Zhao Guanjian , Ma Mincai , Chen Jin , Huang Ning
Published: February 2022

Background

Transsphenoidal surgery is the preferred first-line therapy for most pituitary adenoma(PA), and the conventional strategy of treatment is intracapsular resection(IR). The protocol of extracapsular resection(ER), which considers the pseudocapsule as the PA boundary for surgical removal, has also been introduced gradually. In this study, the clinical efficacies and complications were explored and compared between these two procedures.

Methods

A systematic literature review was performed in the PubMed, EMBASE, Web of Science and Cochrane databases. Articles comparing between IR and ER were included.

Results

There were 7 studies containing 1768 cases in accordance with the inclusion criteria. Although the meta-analysis showed no significant difference in complete resection, a sensitivity analysis revealed that ER was more conducive to total PA resection than IR. Moreover, we found a significant difference in favor of ER regarding biochemical remission. Furthermore, there was no significant difference in the incidence rate of certain complications, such as hormone deficiency, diabetes insipidus, intraoperative cerebrospinal fluid(CSF) and postoperative CSF leakage. However, a sensitivity analysis suggested that IR decreased the risk of intraoperative CSF leakage.

Conclusions

This meta-analysis unveiled that ER contributed to biochemical remission. To some extent, our results also showed that ER played a positive role in complete resection, but that IR reduced the incidence of intraoperative CSF leakage. However, the available evidence needs to be further authenticated using well-designed prospective, multicenter, randomized controlled clinical trials.
Acute disseminated encephalomyelitis with bilateral optic neuritis following ChAdOx1 COVID-19 vaccination
Authors: Nagaratnam Sai A. , Ferdi Alex C. , Leaney John , Lee Raymond Lam Kwong , Hwang Yun Tae , Heard Robert
Published: February 2022

Background

Acute disseminated encephalomyelitis (ADEM) is a rare immune-mediated inflammatory demyelinating disease of the central nervous system. We report a case of ADEM presenting with bilateral optic neuritis temporally associated with the ChAdOx1 vaccine against SARS-COVID19 virus.

Case presentation

A 36-year-old female presented with bilateral optic neuritis following her first dose of the ChAdOx1 vaccine. Initial MRI Brain showed evidence of demyelination within the subcortical white matter, with no radiological involvement of the optic nerves. Visual evoked potentials were consistent with bilateral optic neuritis which was confirmed radiologically on follow up MRI. She was treated with intravenous steroids with improvement both in symptoms and radiological appearance. A pseudo-relapse occurred which was treated with a further course of intravenous steroids followed by an oral taper. The clinical, radiological and serological results were most consistent with diagnosis of ADEM.

Conclusions

ADEM is an exceedingly rare complication of ChAdOx1 vaccine despite millions of doses. While it is imperative clinicians remain aware of neurological complications of vaccines, the importance of vaccination to control a pandemic should not be undermined.
The prognostic and predictive value of ESR1 fusion gene transcripts in primary breast cancer
Authors: Vitale Silvia R. , Ruigrok-Ritstier Kirsten , Timmermans A. Mieke , Foekens Renée , Trapman-Jansen Anita M. A. C. , Beaufort Corine M. , Vigneri Paolo , Sleijfer Stefan , Martens John W. M. , Sieuwerts Anieta M. , Jansen Maurice P. H. M.
Published: February 2022

Background

In breast cancer (BC), recurrent fusion genes of estrogen receptor alpha (ESR1) and AKAP12, ARMT1 and CCDC170 have been reported. In these gene fusions the ligand binding domain of ESR1 has been replaced by the transactivation domain of the fusion partner constitutively activating the receptor. As a result, these gene fusions can drive tumor growth hormone independently as been shown in preclinical models, but the clinical value of these fusions have not been reported. Here, we studied the prognostic and predictive value of different frequently reported ESR1 fusion transcripts in primary BC.

Methods

We evaluated 732 patients with primary BC (131 ESR1-negative and 601 ESR1-positive cases), including two ER-positive BC patient cohorts: one cohort of 322 patients with advanced disease who received first-line endocrine therapy (ET) (predictive cohort), and a second cohort of 279 patients with lymph node negative disease (LNN) who received no adjuvant systemic treatment (prognostic cohort). Fusion gene transcript levels were measured by reverse transcriptase quantitative PCR. The presence of the different fusion transcripts was associated, in uni- and multivariable Cox regression analysis taking along current clinico-pathological characteristics, to progression free survival (PFS) during first-line endocrine therapy in the predictive cohort, and disease- free survival (DFS) and overall survival (OS) in the prognostic cohort.

Results

The ESR1-CCDC170 fusion transcript was present in 27.6% of the ESR1-positive BC subjects and in 2.3% of the ESR1-negative cases. In the predictive cohort, none of the fusion transcripts were associated with response to first-line ET. In the prognostic cohort, the median DFS and OS were respectively 37 and 93 months for patients with an ESR1-CCDC170 exon 8 gene fusion transcript and respectively 91 and 212 months for patients without this fusion transcript. In a multivariable analysis, this ESR1-CCDC170 fusion transcript was an independent prognostic factor for DFS (HR) (95% confidence interval (CI): 1.8 (1.2–2.8), P = 0.005) and OS (HR (95% CI: 1.7 (1.1–2.7), P = 0.023).

Conclusions

Our study shows that in primary BC only ESR1-CCDC170 exon 8 gene fusion transcript carries prognostic value. None of the ESR1 fusion transcripts, which are considered to have constitutive ER activity, was predictive for outcome in BC with advanced disease treated with endocrine treatment.
Prevalence and diagnostic ability of β-zone parapapillary atrophy in open-angle glaucoma: a systematic review and meta-analysis
Authors: Zhou Dengming , Cao Mengdan , Duan Xuanchu
Published: February 2022

Background

β-Zone parapapillary atrophy (β-PPA) is a common sign in patients with open-angle glaucoma (OAG). Some studies have suggested that β-PPA can aid in the diagnosis of OAG. We performed a systematic review and meta-analysis of the prevalence and diagnostic ability of β-PPA in OAG.

Methods

We performed a literature search in PubMed, Web of Science, Embase and Google Scholar from inception to 1st November, 2021. Both hospital-based and population-based studies that reported details of β-PPA in OAG were included.

Results

We screened 1404 articles from these databases and ultimately included 24 articles in our meta-analysis. The prevalence of β-PPA in OAG was 0.73 (95% CI 0.67 to 0.78). The results of subgroup analysis by country revealed prevalence rates of 0.83 (95% CI 0.78 to 0.88) in Japan, 0.85 (95% CI 0.64 to 0.97) in Korea, 0.64 (95% CI 0.55 to 0.73) in the USA, 0.61 (95% CI 0.58 to 0.63) in Germany and 0.57 (95% CI 0.39 to 0.74) in China. Fundus photography, Heidelberg retina tomography (HRT), Heidelberg retina angiography (HRA) + indocyanine green angiography (ICGA), Spectral domain optical coherence tomography (SD-OCT)and Swept source optical coherence tomography(SS-OCT) values were 0.65 (95% CI 0.58 to 0.71), 0.70 (95% CI 0.50 to 0.86), 0.78 (95% CI 0.61 to 0.91), 0.77 (95% CI 0.65 to 0.88) and 0.99(95% CI 0.87 to 1.00) respectively. The sensitivity and specificity of β-PPA as a diagnostic marker were 0.78 (95% CI 0.68 to 0.85) and 0.63 (95% CI 0.51 to 0.73), respectively.

Conclusions

β-PPA is a potential diagnostic marker for OAG. However, a more detailed understanding of β-PPA characteristics is needed to improve the ability to predict OAG.
Myocardial infarction due to thrombotic occlusion despite anticoagulation in Kawasaki disease – a case report
Authors: van Stijn Diana , Schoenmaker Nikki J. , Planken R. Nils , Koolbergen Dave R. , Gouw Samantha C. , Kuijpers Taco W. , Blom Nico A. , Kuipers Irene M.
Published: February 2022

Background

Kawasaki disease (KD) is a pediatric vasculitis. Mainly the coronary arteries become affected due to acute inflammation and formation of coronary artery aneurysms (CAAs) can occur. The larger the CAA, the higher the risk for clinical complications and major adverse cardiac events, as the blood flow changes to vortex or turbulent flow facilitating thrombosis. Such patients may develop life threatening thrombotic coronary artery occlusion and myocardial ischemiaunless anti-platelet and anti-coagulation therapy is timely initiated.

Case presentation

We present a unique case of a 5-year-old girl with KD associated giant CAAs suffering from myocardial ischemia due to acute progressive thrombus growth despite intensive anticoagulation treatment (acetylsalicylic acid, acenocoumarol and clopidogrel) after 21 months of onset of disease. Thrombus growth continued even after percutaneous coronary intervention (PCI) with thrombolytic treatment and subsequent systemic thrombolysis, finally causing lasting myocardial damage. Acute coronary artery bypass grafting (CABG) was performed, although technically challenging at this very young age. Whereas myocardial infarction was not prevented, follow-up fortunately showed favorable recovery of heart failure.

Conclusions

Anticoagulation and thrombolysis may be insufficient for treatment of acute coronary syndrome in case of impending thrombotic occlusion of giant coronary aneurysms in KD. Our case demonstrates that a thrombus can still continue to grow despite triple anticoagulation therapy and well-tailored cardiovascular follow-up, which can be most likely attributed to the state of low blood flow inside the aneurysm.
Perinatal, neonatal, developmental and demographic predictors of intelligence at 4 years of age among low birth weight children: a panel study with a 2-year follow-up
Authors: Kenyhercz Flóra , Kósa Karolina , Nagy Beáta Erika
Published: February 2022

Intoduction

Childhood intelligence is an important predictor of later outcomes in life such as socioeconomic status or health. Hence, a deeper understanding of predictors of child intelligence should suggest points of intervention for children facing adversities.

Objectives

The purpose of this study is to examine the predictive value of demographic, perinatal and neonatal variables after birth and developmental characteristics at age 2 for 4-year intelligence as outcome among low birth weight children.

Methods

We designed a panel study with a 2-year follow-up with 114 child-mother pairs. The outcome variable was IQ intelligence quotient at 4 years of age of LBW low birth weight children measured by the Wechsler Primary and Preschool Scales of Intelligence. Potential predictors were maternal education, family wealth, ethnic identity; sex, twin pregnancy, gestational age, birth weight, Apgar scores, maternal smoking during pregnancy; diagnosis of intravetricular haemorrhage, retinopathy of prematurity, bronchopulmonary dysplasia after birth and cognitive, language and motor development at age 2 measured by one composite score of the three Bayley Scales of Infant and Toddler Development aggregated.

Results

Stepwise backward regression was carried out including significant variables from the bivariate analysis. The best model included 4 predictors which accounted for 57% of the variance of the full IQ intelligence at 4-years of age. Maternal higher education was significant positive, below average family wealth and neonatal diagnosis of bronchopulmonary dysplasia were significant negative predictors in the model after birth. 2-year developmental characteristics such as cognitive, motor and language skills were positive predictors of the IQ intelligence at age 4.

Conclusion

Sociodemographic assessment at birth and developmental assessment at two years of age are of crucial importance to recognize children at high risk for delayed cognitive development. High-risk children should be directed to supportive interventions and their development should be regulary monitored.
Preferences of psychotherapists for blended care in Germany: a discrete choice experiment
Authors: Phillips Elena A. , Himmler Sebastian , Schreyögg Jonas
Published: February 2022

Objectives

Digital treatment formats are emerging within mental health care. Evidence suggests that mental health care providers and recipients prefer a combination of digital and traditional elements within psychotherapy treatment formats, also called blended care (BC), over standalone digital formats. We examined the attitudes and preferences of licensed psychotherapists in Germany regarding such BC applications.

Methods

We fielded a survey among psychotherapists, including questions about attitudes, previous experiences, and expectations regarding BC, as well as a discrete choice experiment. Attributes for the experiment were developed using a stepwise qualitative approach. A Bayesian D-efficient design was used to generate the choice tasks. The choice data were analyzed by applying mixed logit models.

Results

The survey was completed by 200 psychotherapists. Attitudes towards BC were mainly positive, with strong reported intentions to use BC formats. In the choice experiment, recommendation from a professional society for a BC online component was the most important characteristic. Greater effectiveness and a larger share of face-to-face vs. online time were also desired features, while a financial incentive to use BC was less relevant.