bluuebunny/crossref_metadata_2025_split huggingface dataset:
Promoter analysis and prediction in the human genome using sequence-based deep learning models
Authors: Umarov Ramzan , Kuwahara Hiroyuki , Li Yu , Gao Xin , Solovyev Victor 
Published: December 2018

Abstract

Motivation
Computational identification of promoters is notoriously difficult as human genes often have unique promoter sequences that provide regulation of transcription and interaction with transcription initiation complex. While there are many attempts to develop computational promoter identification methods, we have no reliable tool to analyze long genomic sequences.

Results
In this work, we further develop our deep learning approach that was relatively successful to discriminate short promoter and non-promoter sequences. Instead of focusing on the classification accuracy, in this work we predict the exact positions of the transcription start site inside the genomic sequences testing every possible location. We studied human promoters to find effective regions for discrimination and built corresponding deep learning models. These models use adaptively constructed negative set, which iteratively improves the model’s discriminative ability. Our method significantly outperforms the previously developed promoter prediction programs by considerably reducing the number of false-positive predictions. We have achieved error-per-1000-bp rate of 0.02 and have 0.31 errors per correct prediction, which is significantly better than the results of other human promoter predictors.

Availability and implementation
The developed method is available as a web server at http://www.cbrc.kaust.edu.sa/PromID/.
Skeletal and soft tissue injuries after manual and mechanical chest compressions
Authors: Friberg Niklas , Schmidbauer Simon , Walther Charles , Englund Elisabet 
Published: December 2018

Abstract

Aims
To determine the rate of injuries related to cardiopulmonary resuscitation (CPR) in cardiac arrest non-survivors, comparing manual CPR with CPR performed using the Lund University Cardiac Assist System (LUCAS).

Methods and results
We prospectively evaluated 414 deceased adult patients using focused, standardized post-mortem investigation in years 2005 through 2013. Skeletal and soft tissue injuries were noted, and soft tissue injuries were evaluated with respect to degree of severity. We found sternal fracture in 38%, rib fracture in 77%, and severe soft tissue injury in 1.9% of cases treated with CPR with manual chest compressions (n = 52). Treatment with LUCAS CPR (n = 362) was associated with significantly higher rates of sternal fracture (80% of cases), rib fracture (96%), and severe soft tissue injury (10%), including several cases of potentially life-threatening injuries.

Conclusion
LUCAS CPR causes significantly more CPR-related injuries than manual CPR, while providing no proven survival benefit on a population basis. We suggest judicious use of the LUCAS device for cardiac arrest.
Performance Characteristics and Clinical Value of the Lipoprotein-Associated Phospholipase A2 by an Enzymatic Kinetic Method
Authors: Lu Mengli , Lv Liying 
Published: December 2018

Abstract

Objective
To analyze the performance characteristics, stability, and clinical value of lipoprotein-associated phospholipase A2 (Lp-PLA2) using an enzymatic kinetic method.

Methods
The performance characteristics included reference intervals, precision, and accuracy. We assessed Lp-PLA2 stability by comparing Lp-PLA2 changes under different conditions. Lp-PLA2 was determined in the following groups: control individuals, patients with coronary heart disease (CHD), patients of different lipid subgroups within CHD, and patients with high total cholesterol (TC). Also, correlations between Lp-PLA2 and traditional cardiovascular risk factors were assessed.

Results
The mean (SD) reference interval of serum Lp-PLA2 activity was 451 (113) U per L with sex differences. Inter- and intra-assay precision revealed coefficients of variance (CVs) of 1.81% to 2.63% and 1.43% to 1.77%. The average bias was 0.33%. Lp-PLA2 activity was stable. In the CHD group, high-lipid subgroups, and high-TC group, Lp-PLA2 was elevated, and correlation was observed between Lp-PLA2 and traditional risk factors.

Conclusion
Lp-PLA2 activity has important clinical value in CHD.
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations
Authors: Pornprasert Sakorn , Anurak Rinradee , Ruengdit Chedtapak , Pienthai Nattasit , Tookjai Monthathip , Punyamung Manoo , Pongpunyayuen Panida 
Published: December 2018

Abstract

Background
Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases.

Methods
We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences–Clinical Services Center (AMS-CSC), Chiang Mai, Thailand.

Results
A total of 100 (98.0%) DNA specimens were completely concordant between the microarray and reference methods, whereas discrepancies between the different methods were observed in only 2 DNA specimens with homozygous hemoglobin E (HbE).

Conclusions
The microarray appeared to be a fast, easy to perform, and accurate method for simultaneous detection of α- and β-thalassemias in Thailand and Southeast Asian countries. However, this technique needs to be improved and validated in a larger number of specimens with homozygous HbE before further routine laboratory use.
Pre- and Postoperative Gait Analysis and Video for Selective Dorsal Rhizotomy in Spastic Diplegia: 2-Dimensional Operative Video
Authors: Archer Jacob , Yaacoub Alan P , Angulo-Parker Francisco , Fritsch Gloria , Riner Shana , Coon Ann , Johnson Sarah K , Delima Sarah , Jea Andrew , Raskin Jeffrey S 
Published: December 2018

Abstract
Severe lower limb spasticity can hinder motor tasks and negatively impacts the quality of life in patients with cerebral palsy. Selective dorsal rhizotomy is a well-established neurosurgical intervention aimed at reducing muscle spasticity in patients with such neuromuscular conditions. Long-term outcomes of selective dorsal rhizotomy have been promising among the authors’ institutional series of patients. In this case, we demonstrate the use of L1-S1 osteoplastic laminoplasty and L1-S1 selective dorsal rhizotomy in a 5-year-old male patient with cerebral palsy and spastic lower extremity diplegia. Favorable selection criteria for this case included disabling lower extremity diplegia, young age, good core strength, no cognitive delay, and strong rehabilitation potential. The patient's preoperative functional status was noncommunity ambulator (Gross Motor Function Classification System Level III) with walker use and good dynamic balance. Prior to the procedure, he demonstrated an overall decreased muscle strength in bilateral lower extremities with bilateral hamstring spasticity (Ashworth 3) and bilateral heel cord spasticity (Ashworth 4).
Rhizotomy was performed with identification and selective sectioning of dorsal nerve roots with abnormal stimulation patterns. Fibers with unsustained discharge of appropriate muscles were identified and spared. No intraoperative or postoperative complications were encountered. The patient had minimal back pain and surgical morbidity postoperatively. Following the procedure and highly structured inpatient and outpatient rehabilitation therapies, the patient exhibited significant improvement in gait velocity (84%) and gait cadence (66%) at 5 months. Additionally, the patient demonstrated greater independence of activities of daily living and improvements in mobility by Pediatric Evaluation Disability Index.
Patient consent was obtained from the parent.
CORRELATIONS BETWEEN EXPERIMENTAL MYOPIA MODELS AND HUMAN PATHOLOGIC MYOPIA
Authors: Vutipongsatorn Kritchai , Nagaoka Natsuko , Yokoi Tae , Yoshida Takeshi , Kamoi Koju , Horie Shintaro , Uramoto Kengo , Hirata Akira , Occelli Laurence M. , Petersen-Jones Simon M. , Montiani-Ferreira Fabiano , Cases Olivier , Kozyraki Renata , Jonas Jost B. , Ohno-Matsui Kyoko 
Published: December 2018

Purpose:
To analyze the hallmark features of pathologic myopia developed in animal models and compare them with those seen in patients.

Methods:
A literature review was performed to identify animal models that exhibited key features of pathologic myopia, namely posterior staphyloma, myopic maculopathy, lacquer cracks, and choroidal neovascularization, either spontaneously or induced by monocular deprivation. Using imaging modalities, such as optical coherence tomography, confocal scanning laser ophthalmoscopy, fluorescein angiography, and electron microscopy, these features were compared with those found in myopic maculopathy of patients.

Results:
Three types of animals were identified. The LRP2 knockout mice exhibited posterior staphylomas and chorioretinal atrophy at 21 and 60 days after birth, respectively. Retinopathy globe enlarged (rge) chicks and normal lid-sutured chicks developed lacquer cracks and chorioretinal atrophy. Lacquer cracks detected in rge chicks subsequently progressed to patchy chorioretinal atrophy, which is also commonly seen in patients with pathologic myopia.

Conclusion:
The LRP2 knockout mice, retinopathy globe enlarged (rge) chicks, and normal lid-sutured chicks exhibit features typical for myopic maculopathy in patients and could serve to further elucidate the pathogenesis of myopic maculopathy.
Prevalence of migraine in Han Chinese of Fujian province
Authors: Lin Qi-fang , Xia Qiao-qing , Zeng Yu-li , Wu Xiao-yang , Ye Lin-feng , Yao Long-teng , Xin Yong-tong , Huang Gen-bin 
Published: December 2018

Abstract
Migraine is a relatively common disease that is associated with high disability and reduced quality-of-life. This study aimed to investigate the prevalence, epidemiological characteristics, and risk factors of migraine in Han Chinese from Fujian Province, China.
A cross-sectional epidemiological survey study was conducted to evaluate characteristics of migraine in Han Chinese. Demographic and clinical data were collected through a survey administered in face-to-face interviews by trained investigators, and a physical exam and symptom review were performed. Univariate and multivariate regression analyses were performed to assess independent risk factors for migraine.
A total of 7860 subjects aged 15 years and older were surveyed, of which 9.1% (n = 717) were diagnosed with migraine. Among these, a higher percentage was female (12.6%) than male (5.3%). Only 114 subjects (15.9%) were diagnosed as having migraine with aura, which was closely associated with family history of migraine. Multivariate regression analysis showed that the odds of migraine were significantly lower in subjects aged ≥50 years compared with those aged <30 years (odds ratio [OR] ranged from 0.40 to 0.64; P ≤.013) and was higher in females compared with males (OR = 2.89, P <.001). The odds of migraine was significantly greater in subjects with a history of alcohol consumption (OR = 1.81, P <.00) and insomnia (OR = 2.77, P <.001).
Han Chinese in Fujian province has a relatively high prevalence of migraine, and female gender, <50 years of age, insomnia, and use of alcohol are associated with increased odds of having migraine in this population.
Effectiveness of neuromuscular electrical stimulation therapy in patients with urinary incontinence after stroke
Authors: Guo Gai-yan , Kang Yong-gang 
Published: December 2018

Abstract

Background:
This study aimed to evaluate the effectiveness of neuromuscular electrical stimulation (NMES) therapy in patients with urinary incontinence after stroke (UIAS).

Methods:
A total of 82 patients with UIAS were randomly assigned to 2 groups that received NMES therapy (NMES group) or sham NMES (sham group) for 10 weeks. The primary efficacy endpoints were measured by urodynamic values, and Overactive Bladder Symptom Score (OABSS). The secondary efficacy endpoints were assessed by International Consultation on Incontinence Questionnaire-Short Form (ICIQ-SF) score, Barthel Index (BI) scale, and adverse events. All outcomes were evaluated at baseline and at the end of 10 weeks treatment.

Results:
After 10-week treatment, the patients received NMES therapy showed better efficacy in primary endpoints of urodynamic values (P <.01) and OABSS (P <.01), and secondary endpoints of ICIQ-SF (P <.01) and BI (P <.01), compared with patients who underwent sham NMES. No adverse events were recorded in both groups.

Conclusions:
In summary, we demonstrated that 10 weeks of NMES therapy was efficacious in patients with UIAS.
A pilot study of acupuncture at pain acupoints for cervical cancer pain
Authors: Meng Fan-feng , Feng Yan-hong 
Published: December 2018

Abstract
This retrospective study aimed to investigate the feasible effectiveness of acupuncture at pain acupoints for the treatment of patients with cervical cancer pain (CCP). A total of 64 cases were analyzed. All these cases were assigned to an acupuncture group or a control group according to the different therapies they received. The cases in the acupuncture group received acupuncture treatment at pain acupoints, while the subjects in the control group underwent acupuncture at regular acupoints. The primary endpoint was CCP, assessed by numeric rating scale (NRS). The secondary endpoints were evaluated by the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30), and Karnofsky Performance Status (KPS). In addition, adverse events were also recorded during the treatment period. After treatment, patients in the acupuncture group exerted greater outcomes in CCP reduction when compared with patients in the control group (P < .01). In addition, no adverse events were recorded in either group. The results of this study showed that acupuncture at pain acupoints might be efficacious in patients with CCP after 14-day treatment.
Desmoplastic fibroma of the femur with atypical image findings
Authors: Xu Yongming , Wang Yaoting , Yan Jun , Bai Xiaodong , Xing Gengyan 
Published: December 2018

Abstract

Rationale:
Desmoplastic fibroma of the bone (DFB) is an extremely rare benign bone tumor, which can occur in any bone at all ages. Herein, we report a case of non-specific imaging findings.

Patient concerns:
A 25-year-old female patient was consulted in the Armed Police General Hospital (Beijing, China) due to repeated pain in the right thigh lasting over 1 year. Imaging examination revealed a space-occupying lesion in the right femur.

Diagnosis:
Desmoplastic fibroma of the femur

Interventions:
Wide surgical resection

Outcomes:
At the 1-year follow-up visit, no relapse in the tumor was observed.

Lessons:
In this case report, we described and emphasized the particularity of the case examined and the possible non-specificity of the imaging results of some DFB cases.
Age-specific and gender-dependent impact of primary headache disorders on dementia risk
Authors: Yin Jiu-Haw , Tsai Chia-Lin , Lee Pei-Jung , Chou Chung-Hsing , Chen Shao-Yuan , Chung Chi-Hsiang , Chien Wu-Chien , Lin Chun-Chieh , Sung Yueh-Feng , Yang Fu-Chi , Tsai Chia-Kuang , Lee Jiunn-Tay 
Published: December 2018

Abstract
Dementia is a global burden of public health. Headache disorders are the third most common cause of disability worldwide and common problems in the elderly population. Few studies focused on the relationship between primary headache disorders (PHDs) and cognitive status, and the results remain controversial. The aim of this countrywide, population-based, retrospective study was to investigate potential association between PHDs and dementia risk.
We enrolled 1346 cases with PHDs to match the 5384 individuals by age, gender and co-morbidities. The definition of PHDs, dementia, and risk factors of dementia was identified according to The International Classification of Diseases, Ninth Revision, Clinical Modification. Cox regression was administered for estimating hazard ratios (HR) for dementia.
During more than 5 years of follow-up, PHDs individuals had 1.52 times (P <.05) greater risk to develop all dementia compared with individuals without PHDs. Elderly (aged ≥65 years) patients with PHDs displayed significantly higher risk to develop all dementia (P <.01) and non-Alzheimer non-vascular dementia (NAVD) P <.01). Female PHDs individuals were at higher risk of suffering from all dementia (P <.05) and NAVD (P <.05). The influence of PHDs on all dementia was highest in the first 2 years of observation.
The results indicated PHDs are linked to a temporarily increased risk for dementia, mainly NAVD, with age-specific and gender-dependent characteristics.
CDC20 overexpression leads to poor prognosis in solid tumors
Authors: Wang Shengjie , Chen Borong , Zhu Zhipeng , Zhang Liang , Zeng Junjie , Xu Guoxing , Liu Gang , Xiong Disheng , Luo Qi , Huang Zhengjie 
Published: December 2018

Abstract

Background:
A plenty of previous researches have reported the prognostic value of CDC20 (Cell Division Cycle Protein 20) in solid tumors. Nevertheless, these researches were restricted by the small sample databases and the results were not strongly consistent among them.

Methods:
We comprehensively searched these relevant studies by PubMed, Web of Science, and EMBASE, in which publications before March 2017 were included. Pooled HR values for OS were cumulatively pooled and quantitatively analyzed in the meta-analysis.

Results:
Hence we composed a meta-analysis based on 8 studies with 1856 patients in order to assess the potential relationship between CDC20 overexpression and OS (overall survival) in human solid tumors. There were a total of 8 studies (n = 1856) assessed in the meta-analysis. What suggested in both univariate and multivariate analysis for survival is that high level of CDC20 expression apparently pointed to poor prognosis. In the univariate analysis, the combined hazard ratio (HR) for OS was 1.75 (95% confidence interval [CI]: 1.07–2.86, P = .03). The pooled HR of multivariate analysis for OS was 2.48 (95% confidence interval [CI]: 2.10–2.94, P < .001).

Conclusions:
The meta-analysis indicated that high level of CDC20 expression is significantly correlated with decreased survival in most case of human solid tumors. In addition, CDC20 shows promise as a meaningful prognostic biomarker and original therapeutic target, on the basis of its expression level in solid tumors.
Postural control and balance in a cohort of healthy people living in Europe
Authors: Patti Antonino , Bianco Antonino , Şahin Neşe , Sekulic Damir , Paoli Antonio , Iovane Angelo , Messina Giuseppe , Gagey Pierre Marie , Palma Antonio 
Published: December 2018

Abstract
In the past 20 years, posturography has been widely used in the medical field. This observational study aimed to report the values derived from posturography of a wide set of healthy subjects from various European countries using a plantar pressure platform and a standardized method of measurement.
A random cluster sampling of 914 healthy subjects aged between 7.0 and 85.99 years, stratified by age, was carried out. To provide percentile values of our cohort, data were processed to obtain 3 curves corresponding to the following percentiles: 25th, 50th, 75th, and the interquartile range. Distance-weighted least squares method was used to represent the percentile on appropriate graphs.
In our sample, the balance to improve with age, up to approximately 45 years, but the trend to reverse with older age. The data show that the oscillations on the sagittal plane (y-mean) change with advancing age. Young people had more retro-podalic support than older people; the balance shifted forward in elderly people.
As the study included a relatively large quantity of data collected using a standardized protocol, these results could be used as normative values of posturography for similar populations. On the basis of this data, correct diagnostic clues will be available to clinicians and professionals in the field. However, further studies are needed to confirm our findings.
Single level discectomy with and without disc prosthesis
Authors: Çakir Tayfun , Çakir Mürteza , Okay Hilmi Önder , Yolaş Coşkun , Tanriverdi Osman , Ömeroğlu Muhammed , Arslan Yusuf Kemal 
Published: December 2018

Abstract

Background:
Low back and leg pain due to lumbar discal hernia (LDH) is an important health issue. Current evidences support surgery in carefully selected patients who have failed conservative treatment and do not exhibit any psychosocial overlay. However, as known, sometimes it may be still very difficult to normalize the life qualities of patients for long times. Now different surgical methods for LDH are in use with new technological materials. One of them is lumbar disc prosthesis. In this study, the radiological and clinical effects of using lumbar disc prosthesis were evaluated with comparing patients underwent simple lumbar microdsicectomy. The purpose of this study is to reveal whether inserting the disc prosthesis into the intervertebral distance after lumbar microdiscectomy is beneficial or not both radiologically and clinically.

Methods:
A total of 114 patients were analyzed; the first cohort consisted of 57 patients who received a lumbar discectomy at a single level along with the implantation of a disc prosthesis and the second consisted of 57 patients only received a lumbar discectomy at a single level. These 2 groups were studied by comparing the disc space on the level of carried out operations with pain scales, foramen diameters of coming about related roots preoperatively and postoperatively at 3 years.

Results:
One of the significant results of the implementation of the disc prosthesis is fulfilment of a healthy disc height again after microdiscectomy due to LDH. We concluded that fulfilment of a healthy disc height with lumbar disc prosthesis was clinically beneficial for patients underwent microdiscectomy.

Conclusions:
Based on the results obtained in this study, it can be concluded that the implantation of a disc prosthesis in appropriate patients is more favorable regarding pain and spinal physiology when compared to simple microdiscectomy.
Clinical and molecular characterization of early T-cell precursor acute lymphoblastic leukemia
Authors: Wang Xiao-Xue , Wu Danyang , Zhang Lijun 
Published: December 2018

Abstract

Rationale:
Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a small subtype of T-cell acute lymphoblastic leukemia with a typical immune-phenotype: lack of T-lineage cell surface markers CD1a and CD8 expression, weak or absent CD5 expression, at least one of the myeloid or hematopoietic stem cell markers. It is characterized by high rate of induction failure and the effective unified treatment strategies are still indeterminate. We present 2 ETP-ALL cases.

Patient concerns:
A 42-year-old man presented with abnormal hemogram for 4 months, intermittent fever for 2 months and cough for 1 week. A 27-year-old woman was admitted to the hospital for a fever and headache for that had persisted for 1 week.

Diagnosis:
The peripheral blood examination, the bone marrow aspiration and flow cytometry for both patients revealed ETP-ALL.

Interventions:
Both cases accepted chemotherapy including cytarabine.

Outcomes:
In case one, the patient reached complete hematological remission with negative minimal residual detected by flow cytometry after the first circle of chemotherapy. In case 2, the patient received complete remission after the second circle of chemotherapy with high doses of cytarabine.

Lessons:
The application of the high-dose cytarabine in induction chemotherapy of ETP-ALL can bring better outcome. ETP-ALL with myeloid features may benefit from therapies used in myeloid malignancies.