bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations
Authors: Bayram Nurettin , Bayram Ayşe Kaçar , Per Hüseyin , Gümüş Hakan , Ozsaygili Cemal , Doğan Mehmet Said , Çağlayan Ahmet Okay 
Published: May 2021

Purpose: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A ( CRPPA) mutation in different clinical manifestations. Case description: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). Conclusions: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.
A trial of an emotional intelligence intervention in an Iranian residential institution for adolescents
Authors: Ghelbash Zakiye , Zarshenas Ladan , Dehghan Manshadi Zobeydeh 
Published: May 2021

Aims: As a vulnerable group in society, orphaned and abandoned adolescents are faced with various social issues as well as lack of healthy social skills that can lead to high-risk behaviors. The objective of this study was to examine the effect of emotional intelligence skills training on the social skills of orphaned and abandoned adolescents. Methods: The present study was an interventional research with a pretest-posttest design. The sample included 30 orphaned and abandoned male teen-agers, residing in a care center, who were randomly selected and divided into intervention and control groups. The intervention group had four emotional intelligence-based training sessions. In this study, the Matson Evaluation of Social Skills with Youngsters (MESSY) was used to evaluate the variables. The results were analyzed, using SPSS Statistics 22. Results: The results showed significant difference between the mean MESSY scores in the intervention group before and after the intervention ( p < .05). There was also a significant difference between the mean scores of the intervention and control group, following the intervention. Conclusion: An emotional intelligence-based training program can be effective in improving the social skill levels amongst orphaned and abandoned adolescents as a vulnerable social group.
Preoperative Fluoroscopically Guided Regional Erector Spinae Plane Blocks Reduce Opioid Use, Increase Mobilization, and Reduce Length of Stay Following Lumbar Spine Fusion
Authors: Owen Robert J. , Quinlan Noah , Poduska Addisyn , Spiker William Ryan , Spina Nicholas T. , Brodke Darrel S. , Lawrence Brandon D. 
Published: May 2021

Study Design: Retrospective review. Objective: To determine the effectiveness of erector spinae plane (ESP) blocks at improving perioperative pain control and function following lumbar spine fusions. Methods: A retrospective analysis was performed on patients undergoing < 3 level posterolateral lumbar fusions. Data was stratified into a control group and a block group. We collected postop MED (morphine equivalent dosages), physical therapy ambulation, and length of stay. PROMIS pain interference (PI) and physical function (PF) scores, ODI, and VAS were collected preop and at the first postop visit. Chi-square and student’s t-test ( P = .05) were used for analysis. We also validated a novel fluoroscopic technique for ESP block delivery. Results: There were 37 in the block group and 39 in the control group. There was no difference in preoperative opioid use ( P = .22). On postop day 1, MED was reduced in the block group (32 vs 51, P < .05), and more patients in the block group did not utilize any opioids (22% vs 5%, P < .05). The block group ambulated further on postop day 1 (312 ft vs 204 ft, P < .05), and had reduced length of stay (2.4 vs 3.2 days, P < .05). The block group showed better PROMIS PI scores postoperatively (58 vs 63, P < .05). The novel delivery technique was validated and successful in targeting the correct level and plane. Conclusions: ESP blocks significantly reduced postop opioid use following lumbar fusion. Block patients ambulated further with PT, had reduced length of stay, and had improved PROMIS PI postoperatively. Validation of the block demonstrated the effectiveness of a novel fluoroscopic delivery technique. ESP blocks represent an underutilized method of reducing opioid consumption, improving postoperative mobilization and reducing length of stay following lumbar spine fusion.
Increased Total Cost and Lack of Diagnostic Utility for Emergency Department Visits After ACL Injury
Authors: Li Lambert T. , Chuck Carlin , Bokshan Steven L. , Owens Brett D. 
Published: May 2021

Background: Patients are commonly evaluated at the emergency department (ED) with acute anterior cruciate ligament (ACL) tears, but providers without orthopaedics training may struggle to correctly diagnose these injuries. Hypothesis: It was hypothesized that few patients would be diagnosed with an ACL tear while in the ED and that these patients would be of lower socioeconomic status and more likely to have public insurance. Study Design: Cohort study; Level of evidence, 3. Methods: The 2017 State Ambulatory Surgery and Services Database (SASD) and State Emergency Department Database (SEDD) from the state of Florida were utilized in this study. Cases with Current Procedural Terminology code 29888 (arthroscopically aided ACL reconstruction [ACLR]) were selected from the SASD, and data from the SEDD were matched to patients who had an ED visit for a knee injury within 120 days before ACLR. Chi-square analysis was used to test for differences in patient and surgical variables between the ED visit and nonvisit patient groups. A generalized linear model was created to model the effect of ED visit on total cost for an ACL injury. Results: While controlling for differences in patient characteristics and concomitant procedure usage, a visit to the ED added $4587 in total cost ( P < .001). The ED visit cohort contained a greater proportion of patients with Medicaid (20.2% vs 9.1%), patients who were Black (18.4% vs 10.3%), and patients in the lowest income quartile (34.4% vs 25.0%) ( P < .001 for all). In the ED visit cohort, 14.4% of patients received an allograft versus 10.1% in the non-ED visit cohort ( P = .001) despite having a similar mean age. An ACL sprain was diagnosed in only 29 of the 645 (4.5%) patients who visited the ED. Conclusion: Utilizing the ED for care after an ACL injury was expensive, averaging a $4587 increase in total cost associated with ACLR. However, patients rarely left with a definitive diagnosis, with only 4.5% of patients who underwent ACLR being correctly diagnosed with an ACL tear in the ED. This additional cost was levied disproportionately on patients of low socioeconomic status and patients with Medicaid.
A universal karyotypic system for hexaploid and diploid Avena species brings oat cytogenetics into the genomics era
Authors: Jiang Wenxi , Jiang Chengzhi , Yuan Weiguang , Zhang Meijun , Fang Zijie , Li Yang , Li Guangrong , Jia Juqing , Yang Zujun 
Published: May 2021

Abstract
Background
The identification of chromosomes among Avena species have been studied by C-banding and in situ hybridization. However, the complicated results from several cytogenetic nomenclatures for identifying oat chromosomes are often contradictory. A universal karyotyping nomenclature system for precise chromosome identification and comparative evolutionary studies would be essential for genus Avena based on the recently released genome sequences of hexaploid and diploid Avena species.

Results
Tandem repetitive sequences were predicted and physically located on chromosomal regions of the released Avena sativa OT3098 genome assembly v1. Eight new oligonucleotide (oligo) probes for sequential fluorescence in situ hybridization (FISH) were designed and then applied for chromosome karyotyping on mitotic metaphase spreads of A. brevis, A. nuda, A. wiestii, A. ventricosa, A. fatua, and A. sativa species. We established a high-resolution standard karyotype of A. sativa based on the distinct FISH signals of multiple oligo probes. FISH painting with bulked oligos, based on wheat-barley collinear regions, was used to validate the linkage group assignment for individual A. sativa chromosomes. We integrated our new Oligo-FISH based karyotype system with earlier karyotype nomenclatures through sequential C-banding and FISH methods, then subsequently determined the precise breakage points of some chromosome translocations in A. sativa.

Conclusions
This new universal chromosome identification system will be a powerful tool for describing the genetic diversity, chromosomal rearrangements and evolutionary relationships among Avena species by comparative cytogenetic and genomic approaches.
Effect of intravenous oxycodone on the physiologic responses to extubation following general anesthesia
Authors: Jiang Menglu , Ji Jiawei , Li Xin , Liu Zhenqing 
Published: May 2021

Abstract
Background
Endotracheal intubation and extubation may cause undesirable hemodynamic changes. Intravenous oxycodone has recently been introduced and used for relieving hemodynamic alterations in response to intubation, but there is insufficient information regarding its application in stabilizing hemodynamics during extubation in the patients emerging from general anesthesia.

Methods
One hundred patients, who had undergone assorted laparoscopic surgeries under general anesthesia, were randomly assigned to Control group (saline injection, 50 cases) and Study group (intravenous injection of 0.08 mg/kg oxycodone immediately after completion of the surgical procedure, 50 cases). Blood pressure, heart rate, blood oxygen saturation (SpO2) as well as blood concentrations of epinephrine, norepinephrine, and cortisol were recorded or measured immediately before extubation (T0), during extubation (T1), as well as one minute (T2), 5 min (T3), and 10 min after extubation (T4). In addition, coughing and restlessness, time of eye-opening, and duration from completing surgery to extubation as well as Ramsay Sedation Scale were analyzed.

Results
Blood pressure and heart rate as well as blood concentrations of epinephrine, norepinephrine, and cortisol were significantly higher in the Control group compared with the Study group at the time of extubation as well as 1, 5, and 10 min after extubation (P < 0.05). When the patients emerged from general anesthesia, 70 % of the Control group had cough, which was significantly higher than that of Study group (40 %, P < 0.05). Significantly higher number of patients manifested restlessness in the Control group before (40 %) and after extubation (20 %) compared with that in the Study group (20 and 2 %, respectively, P < 0.05). In addition, patients of Control group had lower Ramsay score at extubation (1.7 ± 0.7) as well as 30 min after extubation (2.4 ± 0.9) compared to that of the patients of Study group (2.2 ± 0.9, and 3.0 ± 0.8, respectively, P = 0.003 and 0.001).

Conclusions
Intravenous oxycodone attenuated alterations of hemodynamics and blood hormones associated with extubation during emergence from general anesthesia.

Trial registration
Chinese Clinical Trial Registry: ChiCTR2000040370 (registration date: 11-28-2020) “‘retrospectively registered”.
Cost effectiveness of using Faecal Immunochemical Testing (FIT) as an initial diagnostic investigation for patients with lower gastrointestinal symptoms suggestive of malignancy
Authors: Kearsey CC , Graham C , Lobb HS , Chacko J , Weatherburn R , Rooney PS 
Published: May 2021

Abstract
Background
There has been an increase in the numbers of patients presenting to primary care with suspected colorectal malignancy and subsequently an increase in demand for endoscopy. This study aims to forecast the cost of faecal immunochemical testing (FIT) compared to conventional diagnostic tests as a primary investigation for patients with symptoms suggestive of colorectal malignancy.

Methods
Retrospectively, 1950 patients with symptoms suggestive of colorectal malignancy who were referred through primary care and underwent investigations through standard endoscopic evaluation were included. These patients were used to forecast the cost of faecal immunochemical testing creating theoretical data for sensitivity and specificity. Outcome measures included: the number of investigations under current protocol; cost of current investigations; number of predicted false negatives and false positives and positive/negative predictive values using current sensitivity data for FIT; the cost forecast of using FIT as the primary investigation for colorectal malignancy.

Results
Median age was 65 (IQR 47–82) with 43.7% male and 56.3% female. A total of 1950 investigations were carried out with a diagnostic yield of 26 cancers (18 colon, 8 rectal), 138 polyps and 29 high risk adenomas (HGD ±  > 10 mm). In total, £713,948 was spent on the investigations. The commonest investigation was colonoscopy totalling £533,169. The total cost per cancer diagnosis was £27,459. Sensitivity (92.1% CI 86.9–95.3) and specificity (85.8% CI 78.3–90.1) for FIT in colorectal cancer was taken from NICE and was costed via the manufacturer(s). The projected total cost of FIT for the same population using a ≥ 4 μg haemoglobin cut off was £415,680 (£15,554 per cancer). The total cost of high-risk polyps using ≥ 4 μg cut off was £404,427 (sensitivity 71.2% CI 60.5–87.2, specificity 79.8%CI 76.1–83.7) or £13,945 per polyp.

Conclusions
FIT is a cheaper and effective alternative test with the potential to replace current expensive methods. The forecast is based on the limited data available for sensitivity/specificity in the current literature. FIT has now been commenced for symptomatic patients in the UK and therefore sensitivity may change in the future.
Prevalence and profile of nocturnal disturbances in Chinese patients with advanced-stage Parkinson’s disease: a cross-sectional epidemiology study
Authors: He Guiying , Liu Chun-Feng , Ye Qinyong , Liu Zhenguo , Jin Miao , Shang Huifang , Chen Ling , Tuo Houzhen , Jiang Hong , Cai Jifu , Joshi Kalpesh , Cooper James , Zi Lu , Chen Shengdi 
Published: May 2021

Abstract
Background
The impact of nocturnal disturbance (ND) in Parkinson’s disease on quality of life of patients in Western Countries is increasingly understood. Our study aimed to investigate ND prevalence and its quality of life impact in patients with advanced Parkinson’s disease in China.

Methods
In a multicenter, tertiary-care hospital, outpatient-based, cross-sectional study, patients with advanced Parkinson’s disease (Modified Hoehn & Yahr [H&Y] Stage II–IV with ≥3 h awake “off” time/day) from 10 tertiary hospitals throughout China completed the Parkinson’s Disease Sleep Scale-2 (PDSS-2) and Parkinson’s Disease Questionnaire-39 (PDQ-39). The primary endpoint was the percentage of patients with significant ND (PDSS-2 total score ≥ 15). Additional endpoints were demographic and clinical characteristics, PDSS-2 and PDQ-39 total and subscale scores, correlation between PDSS-2 and PDQ-39, and risk factors for ND and higher PDSS-2 or PDQ-39 scores.

Results
Of 448 patients analyzed (mean age 63.5 years, 47.3% female), 70.92% (95% confidence interval: 66.71, 75.13) had significant ND. Presence of ND and higher PDSS-2 scores were associated with longer disease duration and higher H&Y stage. Presence of ND was also associated with more awake “off” time/day and female sex. PDQ-39 scores were significantly worse for patients with ND versus those without ND; worse scores were associated with more awake “off” time/day, female sex, and higher H&Y stage. PDSS-2 and PDQ-39 total scores were associated: Pearson correlation coefficient 0.62 (p < 0.001).

Conclusions
In China, ND was highly prevalent in patients with advanced Parkinson’s disease and adversely impacted quality of life. This study highlights the importance of early diagnosis and optimized management of ND in patients with Parkinson’s disease in China.
Ophthalmic emergency-room visits during the Covid-19 pandemic – a comparative study
Authors: Yehezkeli Veronika , Rotenstreich Ygal , Haim Liron Naftali Ben , Sher Ifat , Achiron Asaf , Belkin Avner 
Published: May 2021

Abstract
Background
The goal of this study is to compare ophthalmic emergency room (OER) visits during the Coronavirus disease-19 (Covid-19) pandemic to those during a control period.

Methods
We compared all visits to the OER to Meir Medical Center in Israel, from March 15th to April 15th, 2020, during the Covid-19 pandemic and government mandated quarantine, to the same period in 2019. Factors analyzed were patient demographics, chief complaints, referral patterns, exam findings, treatments given, hospitalizations and surgical interventions.

Results
We included in this study 1311 visits of 1158 patients, 477 during the 2020 Covid-19 pandemic and 834 during the same period in 2019. The demographic distribution (age, gender, and ethnicity) was similar between the two periods. LogMAR visual acuity at presentation was worse during the Covid-19 pandemic (0.42 ± 0.6 and 0.34 ± 0.5 in 2020 and 2019 respectively; p = 0.025) and the number of emergent surgeries was higher (3.7% in 2020 vs 1.8% in 2019, p = 0.026). In 2019 there was a higher likelihood of involvement of both segments of the eye (4.82% versus 1.2%, p < 0.01) and more diagnoses were given to each patient (1 ± 0.5 versus 0.93 ± 0.35, p = 0.001; During the Covid − 19 pandemic medications (both topical and systemic) were prescribed more often (1.22 ± 0.95 in 2020 and 0.84 ± 0.67 in 2019, p < 0.001).

Conclusions
OER visits were less frequent during the Covid − 19 pandemic as compared to 2019, though the demographics of the patients remained unchanged. Visits during the pandemic tended to be for more severe ocular conditions, with worse visual acuity at presentation and required more medical and surgical treatment which imply higher necessity of ocular evaluation. This analysis can aid healthcare resource management in similar scenarios in the future.
Sedation versus protective stabilization for dental treatment of children with caries and challenging behavior at the dentist (CHOOSE): a study protocol for a non-randomized clinical trial
Authors:   CEDACORE Collaborative Group, da Silva Gabriela Seabra , Anabuki Anna Alice , Viana Karolline Alves , Corrêa-Faria Patricia , Moterane Mônica Maia , Tedesco Tamara Kerber , Costa Paulo Sucasas , Hosey Marie Therese , Raggio Daniela Prócida , Costa Luciane Rezende 
Published: May 2021

AbstractBackgroundThere is a lack of evidence on the effectiveness of moderate sedation in pediatric dentistry, compared to protective stabilization, which remains routinely used in Brazil despite moral questions. This prospective non-randomized clinical trial's objective is to evaluate the effectiveness of moderate sedation, compared to the protective stabilization, in the dental care of children with dental behavior management problems.MethodsParticipants will be 152 children under seven years of age with early childhood caries (ECC) who need specialized dental treatment due to a history of challenging behavior during dental care. The interventions to be compared are moderate sedation with oral administration of ketamine and midazolam and protective stabilization. The primary endpoint will be the child's behavior during treatment assessed using the Ohio State University Behavioral Rating Scale (OSUBRS). The secondary outcomes are (A) child's – behavior according to the visual analogue scale, anxiety, pain, and physiological stress; (B) parent's – satisfaction and anxiety; (C) family and child – impact on oral health-related quality of life (OHRQoL); (D) dentist's – satisfaction and stress; (E) procedure – adverse events of the intervention and dental treatment longevity. A cost-effectiveness analysis will be performed from the perspective of the Brazilian Unified Health System (SUS).DiscussionConsidering the primary outcome, this study hypothesis is that sedated children have better behavior during dental treatment than children whose behavior was managed by protective stabilization without sedation. Additionally, at the end of 12 months, we expect to identify participants' reported outcomes and objective measures related to dental behavior in early childhood.Trial registrationClinicaltrials.gov registration NCT04119180 on October 8th, 2019.https://clinicaltrials.gov/ct2/show/NCT04119180
The relationship between professional self-concept and work-related quality of life of nurses working in the wards of patients with COVID-19
Authors: Farhadi Akram , Bagherzadeh Razieh , Moradi Aynaz , Nemati Reza , Sadeghmoghadam Leila 
Published: May 2021

Abstract
Background
Nurses are at the forefront of providing health care services and their performance is largely determinant of the quality of health care. This study aims to investigate associations between professional self-concept (PSC) and WRQoL among nurses from selected hospitals in Bushehr and Shiraz cities (south of Iran), during the period of COVD-19 pandemic.

Method
This study is designed as a cross-sectional study. Available sampling was performed among active nurses in the care wards of patients with Covid-19 in public hospitals in Bushehr and Shiraz. Data were collected using demographic information form, along with the work-related quality of life and professional self-concept questionnaires. SPSS software and univariate and multivariate linear regression statistical methods with a significance level of 0.05 were used to analyze the data.

Results
The mean scores of the PSC and the WRQoL Scale in nurses were respectively 202.32 ± 38.19 and 68.81 ± 19.12. There was also a significant direct relationship between PSC and WRQoL. PSC together with work location and working experience could thus explain 34.6% of the variance in WRQoL, which was 26.5% for PSC.

Conclusion
Considering the confirmation of the predictive role of nurses’ PSC in their WRQoL in terms of planning and designing interventions to boost their WRQoL, attention to internal factors such as PSC is of utmost importance.