bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
Authors: Shen Yue , Wang Hao , Liu Zhimin , Luo Minna , Ma Siyu , Lu Chao , Cao Zongfu , Yu Yufei , Cai Ruikun , Chen Cuixia , Li Qian , Gao Huafang , Peng Yun , Xu Baoping , Ma Xu 
Published: October 2020

Abstract
Background
Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.

Case presentation
A two-year-old boy was diagnosed with Joubert syndrome by global development delay and molar tooth sign of mid-brain. Whole exome sequencing was performed to detect the causative gene variants in this individual, and the candidate pathogenic variants were verified by Sanger sequencing. We identified two pathogenic variants (NM_006346.2: c.1147delC and c.1054A > G) of PIBF1 in this Joubert syndrome individual, which is consistent with the mode of autosomal recessive inheritance.

Conclusion
In this study, we identified two novel pathogenic variants in PIBF1 in a Joubert syndrome individual using whole exome sequencing, thereby expanding the PIBF1 pathogenic variant spectrum of Joubert syndrome.
Associated factors of REM sleep without atonia in younger (≤ 50 years) hospitalized psychiatric patients
Authors: Bušková Jitka , Miletínová Eva , Kliková Monika , Bareš Martin , Novák Tomáš , Kosová Jiřina , Stopková Pavla , Kopřivová Jana 
Published: October 2020

Abstract
Background
Isolated REM sleep without atonia (RSWA) as a main polysomnograhic feature of REM sleep behaviour disorder (RBD) is thought to be a prodromal or subclinical state of the disease. RSWA/RBD occurence in psychiatric population is much more frequent than in general population but its associated factors are still not known.

Methods
We invited 88 psychiatry in-patients to undervent video-polysomnography. The visual scoring was focused on RSWA in submentales and flexores digitales superficiales muscles. This parametr was subsequently correlated mainly with age/gender, their medication and mental status.

Results
The RWSA was mostly still in normal range despite the fact, that selected psychiatry patients (≤ 50 years) were taking several classes of psychoactive medication. 3,6% had convincingly RBD, although 35.7% reported rare lifetime occurence of dream-enacting behaviour and 62.8% sporadic nightmares. We found correlation between RSWA and SNRI medication class (p = 0.015), specifically venlafaxine (p = 0.029) as well as quetiapine (p = 0.030). Another significant associated factors were current anxiety (p < 0.001) and depressive symptoms (p = 0.05), but we found no relation between RSWA and given diagnosis.

Conlucions
Isolated RSWA in younger psychiatry patients might be a result of multiple factors, including medication and current mental status but these factors are in most cases not sufficient to manifest RBD.
Non-alcoholic fatty liver disease (NAFLD) as a neglected metabolic companion of psychiatric disorders: common pathways and future approaches
Authors: Soto-Angona Óscar , Anmella Gerard , Valdés-Florido María José , De Uribe-Viloria Nieves , Carvalho Andre F. , Penninx Brenda W. J. H. , Berk Michael 
Published: October 2020

Abstract
Background
Non-alcoholic fatty liver disease (NAFLD) is characterized by hepatic steatosis in over 5% of the parenchyma in the absence of excessive alcohol consumption. It is more prevalent in patients with diverse mental disorders, being part of the comorbidity driving loss of life expectancy and quality of life, yet remains a neglected entity. NAFLD can progress to non-alcoholic steatohepatitis (NASH) and increases the risk for cirrhosis and hepatic carcinoma. Both NAFLD and mental disorders share pathophysiological pathways, and also present a complex, bidirectional relationship with the metabolic syndrome (MetS) and related cardiometabolic diseases.

Main text
This review compares the demographic data on NAFLD and NASH among the global population and the psychiatric population, finding differences that suggest a higher incidence of this disease among the latter. It also analyzes the link between NAFLD and psychiatric disorders, looking into common pathophysiological pathways, such as metabolic, genetic, and lifestyle factors. Finally, possible treatments, tailored approaches, and future research directions are suggested.

Conclusion
NAFLD is part of a complex system of mental and non-communicable somatic disorders with a common pathogenesis, based on shared lifestyle and environmental risks, mediated by dysregulation of inflammation, oxidative stress pathways, and mitochondrial function. The recognition of the prevalent comorbidity between NAFLD and mental disorders is required to inform clinical practice and develop novel interventions to prevent and treat these complex and interacting disorders.
Effect of heel elevation on breakover phase in horses with laminitis
Authors: Al Naem Mohamad , Litzke Lutz-Ferdinand , Geburek Florian , Failing Klaus , Hoffmann Johanna , Röcken Michael 
Published: October 2020

Abstract
Background
In a laminitic horse, the maximal loading of the toe region occurs during the breakover phase. To date, no kinetic data demonstrates the effect of supportive orthopaedic therapy in horses with laminitis on breakover phase. Thus, the purpose of this study was to examine the effect of heel elevation on the breakover phase. Eight horses with acute laminitis treated medically as well as with application of a hoof cast with heel wedge (HCHW) were included in this study. Immediately following cessation of clinical signs of acute laminitis, two measurements using the Hoof™ System were taken: the first with HCHW and the second immediately following removal of the HCHW, i.e. in barefoot condition (BFC). The hoof print was divided into three regions: toe, middle hoof, and heel. Kinetic parameters included vertical force (VF), stance duration, contact area (CA) for all hoof regions during stance phase, duration of breakover, VF in the toe region at onset of breakover and location of centre of force.

Results
The VF and CA were higher in the heel region (63 and 61%, respectively) and decreased significantly after removal of the HCHW (43 and 28% after removal, respectively). The breakover phase in horses with HCHW lasted 2% of stance phase and was significantly shorter than that in BFC, which lasted 6% of stance phase. The VF at onset of breakover for the toe region in horses with HCHW was significantly lower than that in BFC. The centre of the force was located at the heel region in all horses with the HCHW, and at the middle the hoof region in BFC.

Conclusions
Heel elevation in horses with laminitis as examined on a concrete surface significantly shortens breakover phase and decreases the vertical force in the toe region during breakover. HCHW provides adequate support to the palmar hoof structures by increasing the contact area in the heel region and incorporating the palmar part of frog and sole into weight bearing, thus decreasing the stress on the lamellae. Hoof cast with heel elevation could be a beneficial orthopaedic supportive therapy for horses suffering from acute laminitis.
Splenic marginal zone lymphoma: a case report and literature review
Authors: Zhang Shiyu , Xuan Zefeng , Zhang Liang , Lu Jiahua , Song Penghong , Zheng Shusen 
Published: October 2020

Abstract
Background
Splenic marginal zone lymphoma (SMZL) is a rare non-Hodgkin lymphoma, and much little is known about its clinical characteristics and management strategies. Here we present a case of SMZL and review relevant literature to provide a better recognition of this disease entity.

Case presentation
A 49-year-old Chinese female was admitted to our hospital with complaints of abdominal distension and acid reflux. Physical examinations and imaging investigations suggested the presence of splenomegaly. Laboratory workups revealed mildly reduced white blood cell count otherwise was not remarkable. The patient underwent splenectomy. Histological examination combined with immunohistochemical analysis of the resected spleen confirmed the diagnosis of SMZL. The patient recovered uneventfully during follow-ups.

Conclusions
Due to the rarity and unspecific clinical features, SMZL is extremely challenging to be diagnosed preoperatively. Patients with SMZL are generally associated with favorable prognosis. Combining the staging characteristics of non-Hodgkin’s lymphoma and splenic primary lymphoma may assist in clinical staging management of SMZL.
Lessons learned about the effective operationalization of champions as an implementation strategy: results from a qualitative process evaluation of a pragmatic trial
Authors: Bunce Arwen E. , Gruß Inga , Davis James V. , Cowburn Stuart , Cohen Deborah , Oakley Jee , Gold Rachel 
Published: October 2020

AbstractBackgroundThough the knowledge base on implementation strategies is growing, much remains unknown about how to most effectively operationalize these strategies in diverse contexts. For example, while evidence shows that champions can effectively support implementation efforts in some circumstances, little has been reported on how to operationalize this role optimally in different settings, or on the specific pathways through which champions enact change.MethodsThis is a secondary analysis of data from a pragmatic trial comparing implementation strategies supporting the adoption of guideline-concordant cardioprotective prescribing in community health centers in the USA. Quantitative data came from the community health centers’ shared electronic health record; qualitative data sources included community health center staff interviews over 3 years. Using a convergent mixed-methods design, data were collected concurrently and merged for interpretation to identify factors associated with improved outcomes. Qualitative analysis was guided by the constant comparative method. As results from the quantitative and initial qualitative analyses indicated the essential role that champions played in promoting guideline-concordant prescribing, we conducted multiple immersion-crystallization cycles to better understand this finding.ResultsFive community health centers demonstrated statistically significant increases in guideline-concordant cardioprotective prescribing. A combination of factors appeared key to their successful practice change: (1) A clinician champion who demonstrated a sustained commitment to implementation activities and exhibited engagement, influence, credibility, and capacity; and (2) organizational support for the intervention. In contrast, the seven community health centers that did not show improved outcomes lacked a champion with the necessary characteristics, and/or organizational support. Case studies illustrate the diverse, context-specific pathways that enabled or prevented study implementers from advancing practice change.ConclusionThis analysis confirms the important role of champions in implementation efforts and offers insight into the context-specific mechanisms through which champions enact practice change. The results also highlight the potential impact of misaligned implementation support and key modifiable barriers and facilitators on implementation outcomes. Here, unexamined assumptions and a lack of evidence-based guidance on how best to identify and prepare effective champions led to implementation support that failed to address important barriers to intervention success.Trial registrationClinicalTrials.gov,NCT02325531. Registered 15 December 2014.
Can 68Ga-prostate specific membrane antigen positron emission tomography/computerized tomography provide an accurate lymph node staging for patients with medium/high risk prostate cancer? A diagnostic meta-analysis
Authors: Peng Lei , Li Jinze , Meng Chunyang , Li Jinming , You Chengyu , Tang Dandan , Wei Tangqiang , Xiong Wei , Li Yunxiang 
Published: October 2020

Abstract
Objective
This article aims to evaluate the diagnostic value of 68Gallium-PSMA positron emission tomography/computerized tomography (68Ga-PSMA PET/CT) for lymph node (LN) staging in patients with prostate cancer (PCa) by a meta-analysis of diagnostic tests.

Methods
We systematically retrieved articles from Web of Science, EMBASE, Cochrane Database, PubMed. The time limit is from the creation of the database until June 2019, and Stata 15 was used for calculation and statistical analyses.

Results
Sensitivity, specificity, positive and negative likelihood ratio (PLR, NLR), diagnostic odds ratio (DOR) and 95% confidence intervals (CI) be used to evaluate the diagnostic value. A total of 10 studies were included in our meta-analysis, which included 701 individuals. The results of each consolidated summary are as follows: sensitivity of 0.84 (95% CI 0.55–0.95), specificity of 0.95 (95% CI 0.87–0.98), PLR and NLR was 17.19 (95% CI 6.27, 47.17) and 0.17 (95% CI 0.05–0.56), respectively. DOR of 100 (95% CI 18–545), AUC of 0.97 (95% CI 0.95–0.98).

Conclusion
Our study demonstrates that 68Ga-PSMA PET/CT has a high overall diagnostic value for LN staging in patients with moderate and high-risk PCa. But our conclusions still require a larger sample size, multi-center prospective randomized controlled trial to verify.
Contralateral spontaneous rupture of the esophagus following severe emesis after non-intubated pulmonary wedge resection
Authors: Liu Lei , Wu Wenbin , Gong Longbo , Zhang Miao 
Published: October 2020

Abstract
Background
Non-intubated thoracoscopic lung surgery has been reported to be technically feasible and safe. Spontaneous rupture of the esophagus, also known as Boerhaave’s syndrome (BS), is rare after chest surgery.

Case presentation
A 60-year-old female non-smoker underwent non-intubated uniportal thoracoscopic wedge resection for a pulmonary nodule. Ultrasound-guided serratus anterior plane block was utilized for postoperative analgesia. However, the patient suffered from severe emesis, chest pain and dyspnea 6 h after the surgery. Emergency chest x-ray revealed right-sided hydropneumothorax. BS was diagnosed by chest tube drainage and computed tomography. Besides antibiotics and tube feeding, a naso-leakage drainage tube was inserted into the right thorax for pleural evacuation. Finally, the esophagus was healed 40d after the conservative treatment.

Conclusions
Perioperative antiemetic therapy is an indispensable item of fast-track surgery. Moreover, BS should be kept in mind when the patients complain of chest distress following emesis after thoracic surgery.
Acute peripheral ischemia in healthy female patient: an indirect and unanticipated diagnosis of spontaneous thrombus in the aortic arch
Authors: Rings Laura , Schwegler Igor , Papadopoulos Nestoras , Häussler Achim , Odavic Dragan , Schmidt Magdalena , Dzemali Omer 
Published: October 2020

Abstract
Background
In this case we discuss the management of a pediculated floating thrombus in the aortic arch which led to peripheral embolization and acute ischemia oft he left leg.

Case presentation
A healthy 46 year old female patient presented with pain in her left leg and progressive numbness. Computed Tomography Angiography (CTA) showed an acute ischemia of the left leg (Rutherford 2 B) with a 2 cm thrombus distal of the aortic bifurcation. Emergency operation with embolectomy, selective thrombembolectomy and patch plasty on the tibioperoneal trunk and local lysis was performed. As part of a further diagnostic examination a thoracic CT scan has been performed revealing a pediculated-floating 2 cm thrombus in the aortic arch. Four days after the initial operation thrombus excision via a minimally invasive access way has been performed. After initiation of the extracorporeal circulation, selective unilateral antegrade cerebral perfusion has been established in mild (30–32 °C) systemic hypothermia. Patients postoperative course was uneventful. Histological evaluation of the mass demonstrated thrombotic material without evidence of infection or malignacy.

Conclusion
A pediculated spontaneous thrombus may develop in aortic arch in patients without traditional risk factors or family history of embolic events. Two stage operation was feasible and safe.
Climate change mitigation in British Columbia’s forest sector: GHG reductions, costs, and environmental impacts
Authors: Smyth C. E. , Xu Z. , Lemprière T. C. , Kurz W. A. 
Published: October 2020

Abstract
Background
The potential contributions from forest-based greenhouse gas (GHG) mitigation actions need to be quantified to develop pathways towards net negative emissions. Here we present results from a comparative analysis that examined mitigation options for British Columbia’s forest sector. Mitigation scenarios were evaluated using a systems perspective that takes into account the changes in emissions and removals in forest ecosystems, in harvested wood product (HWP) carbon stocks, and in other sectors where wood products substitute for emission-intensive materials and fossil fuels. All mitigation activities were assessed relative to a forward-looking ‘business as usual’ baseline for three implementation levels. In addition to quantifying net GHG emission reductions, we assessed economic, and socio-economic impacts as well as other environmental indicators relating to forest species, age class, deadwood availability and future timber supply. We further considered risks of reversal for land-based scenarios, by assessing impacts of increasing future wildfires on stands that were not harvested.

Results
Our spatially explicit analyses of forest sector mitigation options demonstrated a cost-effective portfolio of regionally differentiated scenarios that directed more of the harvested wood to longer-lived wood products, stopped burning of harvest residues and instead produced bioenergy to displace fossil fuel burning, and reduced harvest levels in regions with low disturbance rates. Domestically, net GHG emissions were reduced by an average of -9 MtCO2e year−1 over 2020–2050 for a portfolio of mitigation activities at a default implementation level, with about 85% of the GHG emission reductions achieved below a cost of $50/tCO2e. Normalizing the net GHG reduction by changes in harvested wood levels permitted comparisons of the scenarios with different ambition levels, and showed that a 1 MtCO2 increase in cumulative harvested stemwood results in a 1 MtCO2e reduction in cumulative emissions, relative to the baseline, for the Higher Recovery scenario in 2070.

Conclusions
The analyses conducted in this study contribute to the global understanding of forest sector mitigation options by providing an integrated framework to synthesize the methods, assumptions, datasets and models needed to quantify mitigation activities using a systems approach. An understanding of economically feasible and socio-economically attractive mitigation scenarios along with trade offs for environmental indicators relating to species composition and age, helps decision makers with long-term planning for land sector contributions to GHG emission reduction efforts, and provides valuable information for stakeholder consultations.
Synthesis and evaluation of N-isopropyl-p-[11C]methylamphetamine as a novel cerebral blood flow tracer for positron emission tomography
Authors: Toyohara Jun , Harada Norihiro , Kakiuchi Takeharu , Ohba Hiroyuki , Kanazawa Masakatsu , Tago Tetsuro , Sakata Muneyuki , Ishiwata Kiichi 
Published: October 2020

Abstract
Introduction
Increases in fasting plasma glucose (PG) levels lead to a decrease in 2-deoxy-2-[18F]fluoro-d-glucose ([18F]FDG) uptake in the normal brain, especially in the precuneus, resulting in an Alzheimer’s disease (AD)-like uptake pattern. Therefore, patients with higher PG levels, such as those with diabetes, can be erroneously diagnosed with AD when positron emission tomography (PET) imaging is done using [18F]FDG, due to reduced uptake of [18F]FDG in the precuneus. To help avoid an erroneous diagnosis of AD due to differences in glucose metabolism, evaluating cerebral blood flow (CBF) in the brain is useful. However, current techniques such as single photon emission computed tomography (SPECT) and [15O]H2O PET have limitations regarding early diagnosis of AD because the images they produce are of low resolution. Here, we developed a novel CBF PET tracer that may be more useful than [18F]FDG for diagnosis of AD.

Methods
We synthesized and evaluated N-isopropyl-p-[11C]methylamphetamine ([11C]4) as a carbon-11-labeled analogue of the standard CBF SPECT tracer N-isopropyl-p-[123I]iodoamphetamine. Fundamental biological evaluations such as biodistribution, peripheral metabolism in mice, and brain kinetics of [11C]4 in non-human primates with PET with successive measurement of [15O]H2O were performed.

Results
[11C]4 was synthesized by methylation of the corresponding tributyltin precursor (2) with [11C]MeI in a palladium-promoted Stille cross-coupling reaction. The brain uptake of [11C]4 in mice peaked at 5–15 min after injection and then promptly decreased. Most radioactivity in the brain was detected in the unchanged form, although in the periphery, [11C]4 was rapidly metabolized to hydrophilic components. Acetazolamide (AZM) treatment significantly increased the brain uptake of [11C]4 without affecting the blood levels of radioactivity in mice. Preliminary kinetics analysis showed that the K1 of [11C]4 reflected regional CBF in a vehicle-treated monkey, but that the K1 did not reflect CBF in higher flow regions after AZM loading.

Conclusion
[11C]4 is a potential novel CBF PET tracer. Further validation studies are needed before [11C]4 can be used in humans.
An improved localization method for lesion area in gynecological ultrasound image
Authors: Yan Sujuan , Jin Hong 
Published: October 2020

AbstractThe false positive and false negative rates of current image localization methods in gynecological lesion area are high because the effectiveness is affected by random noise. Therefore, by using Bhattacharyya coefficient-based scale-invariant feature transform (B-SIFT), a novel localization method of lesion area in gynecological ultrasound image is proposed in this paper. Firstly, Rayleigh mean filtering is used to suppress the noise in the ultrasound image based on Rayleigh distribution characteristics of the noise. Then, the segmentation method of the lesion region is designed by using the scale-invariant feature transform (SIFT). Furthermore, the feature extraction function B-SIFT is proposed to locate the lesion region based on the Bhattacharyya coefficient. Finally, two lesion characteristics of Bhattacharyya coefficients are defined, and the B-SIFT-based feature region descriptors are obtained by constructing an eigenvector normalized based on the Bhattacharyya coefficients. Experimental results show that the proposed method has a high positioning accuracy, strong recall ratio, low energy consumption, and low time consumption, which is more effective and feasible than the traditional method for localization of lesions.