bluuebunny/crossref_metadata_2025_split huggingface dataset:
Percutaneous Enteral Feeding in Patients With 22q11.2 Deletion Syndrome
Authors: Ebert Bridget , Morrell Noelle , Zavala Hanan , Chinnadurai Sivakumar , Tibesar Robert , Roby Brianne Barnett 
Published: March 2021

Objective: To describe the incidence of percutaneous enteral feeding in patients with 22q11.2 deletion syndrome (22q11.2 DS) and determine factors associated with the need for percutaneous enteral feeding tube placement. Design: Retrospective chart review. Methods: The records of a 22q11.2 DS clinic and pediatric otolaryngology clinic at a tertiary pediatric hospital were reviewed from January 1, 2009, to December 31, 2019. All patients with confirmed 22q11.2 deletion were identified. Cardiac, otolaryngological, and feeding characteristics were recorded along with surgical history. A patient was defined to have a G-tube if the history was significant for any percutaneous gastric feeding tube placement, including a gastrostomy tube, gastrostomyjejunostomy tube, or a Mickey button. Results: One hundred ninety patients with confirmed 22q11.2 DS by genetic testing were included. Thirty-three percent (n = 63) required G-tube placement. G-tube placement was associated with cardiac diagnosis ( P < .01), history of cardiac surgery ( P < .01), aspiration ( P < .01), nasopharyngeal reflux ( P < .01), subglottic stenosis ( P < .01), laryngeal web ( P = .003), and tracheostomy ( P < .01). This suggests these conditions are associated with higher rates of G-tube placement in the 22q11.2 DS population. Conclusions: Patients with 22q11.2 DS often require supplemental nutritional support in the form of G-tube feeding, most often in the first year of life. Congenital heart abnormalities and surgery along with tracheostomy, subglottic stenosis, laryngeal web, aspiration, and nasopharyngeal reflux are significantly associated with the need for G-tube placement. Understanding associations between comorbid conditions and G-tube placement, especially those involving the head and neck, may assist with counseling of patients with 22q11.2 DS.
Anatomical-functional concordance of microperimetry and the simplified age-related macular degeneration study classification: A pilot study
Authors: Leal Cecilia , De Bats Flore , Morales Marco , Decullier Evelyne , Denis Philippe , Amoaku Winfried , Kodjikian Laurent 
Published: March 2021

Purpose: The principal aim of this pilot study was to investigate the concordance between the different stages of Age-Related Macular Degeneration (AMD), as determined by the simplified classification of the Age Related Eye Disease Study Group (AREDS), and new evaluation criteria using a microperimetry system. Methods: A complete eye examination and a microperimetry MAIATM (Macular Integrity Assessment, CenterVue, Padova, Italy) examination was performed on 59 eyes with early, intermediate or advanced AMD. We analysed 19 evaluation criteria for every clinical group category. Results: There were 20 female and 12 male participants included with a median age of 74 years (min: 54, max: 87). Thirteen eyes (22%) were classified as category 1, 11 eyes (18.6%) as category 2, 17 eyes (28.8%) as category 3 and 18 eyes (30.6%) as category 4 AMD. All evaluated microperimetry criteria related to retinal sensitivity were found to have a statistically significant difference among the stages ( p < 0.05). Fixation stability was unstable in 55.6% of the eyes classified as stage 4 ( p = 0.001). The analysis of the distance between the two PRLs – PRL_initial and PRL_final was larger for the stage 4 ( p = 0.0258). The mean sensitivity in stages 2 and 3 correlated with the presence or not of reticular pseudodrusen ( p = 0.0137). Conclusions: The mean sensitivity and the categorized sensitivity (set to 25, 15 and 5 dB), the five higher and lower stimuli sensitivity appeared to be the most sensitive criteria to differentiate the four AMD categories. Microperimetry provides a new reproducible method of anatomical-functional macular analysis.
The Clarion: A Social Enterprise Disrupting School Stationary Industry for Sustainability
Authors: Acharyulu A. V. Ramana , Agarwal Vaishali , Prabhakar Manoj 
Published: March 2021

Clarion Education and Skills Private Limited Patna, is a start-up promoted to address the school stationery demand–supply gap in the rural elementary education delivery system and cater to the needs of the rural school children in the states of Bihar, Jharkhand and West Bengal. This case documents the way Clarion pursued disrupting the school notebooks market, with a goal of making a notebook affordable at one-sixth the existing cost of a notebook in the marketplace in 2016. Clarion was promoted by The Better World Foundation (BWF), Patna, a social enterprise working in the area of rural elementary education in Bihar. BWF was of the view that the challenges of school stationery supply chain need to be addressed through a commercial enterprise only, so as to drive changes in the sector, so that BWF could focus on its core objective of creating and developing meaningful elementary educational institutions in the remote rural villages in Bihar, India. This case study details the strategy of Clarion in developing a business model to break the shackles of high-priced branded notebooks by linking the advertising of social marketing campaigns with insertions in the notebook covers, and thus converting the notebook into an advertising medium, and meticulously campaigning for supply of affordable notebooks through various governmental and non-governmental institutions. Clarion challenged the competitive forces on one side and pursued building a cost leadership position for itself through cost-value trade-off initiatives on the other.
Dissection of the uterine wall in a scarred uterus: a case report
Authors: Zilver Sanne J. M. , Wegdam Wouter , Hooker Angelo B. 
Published: March 2021

AbstractUterine rupture is a potentially fatal complication during pregnancy, delivery, or postpartum. Women attempting a trial of labor after a cesarean section have an increased risk of a subsequent rupture. We report a case of a 24-year-old woman, gravida 2 para 1 with a previous cesarean section who underwent a trial of labor. During labor she complained of pain while labor progressed rapidly. Because of signs of fetal distress, a vacuum extraction was performed. Two hours after delivery, the patient complained again of severe abdominal pain. Blood accumulated in a previously non-existent area between the serosa and uterine muscle. A dissection of the uterine wall occurred with serious clinical consequences, compatible with a complete uterine rupture. Emergency laparotomy was performed to repair the uterine wall; a hysterectomy was prevented.
Quantitative evaluation of cellular internalization of polymeric nanoparticles within laryngeal cancer cells and immune cells for enhanced drug delivery
Authors: Ma Li-Juan , Niu Ruichao , Wu Xi , Wu Jun , Zhou En , Xiao Xu-Ping , Chen Jie 
Published: March 2021

AbstractClinical translation of poly (lactic-co-glycolic acid) (PLGA)-based nanomedicine is limited, partly because of the poor delivery efficiency resulting from non-specific phagocytosis by phagocytes. Understanding the nanoparticle interplay between cancer cells and immune cells remains largely elusive. In this study, a quantitative investigation on cellular internalization of fluorescent PLGA particles (100 nm, 500 nm, and 1 µm) against laryngeal carcinoma cells with or without monocytes/macrophages in monoculture or co-culture systems was first performed. PLGA particles at concentrations of 5–20 µg/mL show superior biocompatibility except for 500 nm and 1 µm PLGA particles at 20 µg/mL slightly reduce cell viability. Microscopic observation has discovered all three sizes of particles are effectively ingested by both cancer cells and macrophages; however, quantitative fluorescence examination has disclosed that the uptake index of cancer cells (mean intracellular particle fluorescence per cancer cell normalized to that of per macrophage) is substantially declined for all PLGA particles in co-cultures compared to that in monocultures (1.35–1.05, 1.50–0.59, and 1.4–0.47 for 100 nm, 500 nm, and 1 µm particles, respectively). Quantitative analysis using flow cytometry further confirmed the reduced uptake index of cancer cells in co-cultures, but higher particle counts per macrophage. It has also been found that the formation of multinucleated giant cells via the fusion of macrophages increased after PLGA treatment, which could be further exploited as a potential approach for tumor drug delivery. Overall, these findings provide new insights into the interaction of nanoparticle-immune-cancer cells, which may facilitate the application of PLGA-based nanocarriers for the treatment of laryngeal carcinoma.
Low impact of different SNP panels from two building-loci pipelines on RAD-Seq population genomic metrics: case study on five diverse aquatic species
Authors: Casanova Adrián , Maroso Francesco , Blanco Andrés , Hermida Miguel , Ríos Néstor , García Graciela , Manuzzi Alice , Zane Lorenzo , Verissimo Ana , García-Marín José-Luís , Bouza Carmen , Vera Manuel , Martínez Paulino 
Published: March 2021

AbstractBackgroundThe irruption of Next-generation sequencing (NGS) and restriction site-associated DNA sequencing (RAD-seq) in the last decade has led to the identification of thousands of molecular markers and their genotyping for refined genomic screening. This approach has been especially useful for non-model organisms with limited genomic resources. Many building-loci pipelines have been developed to obtain robust single nucleotide polymorphism (SNPs) genotyping datasets using a de novo RAD-seq approach, i.e. without reference genomes. Here, the performances of two building-loci pipelines, STACKS 2 and Meyer’s 2b-RAD v2.1 pipeline, were compared using a diverse set of aquatic species representing different genomic and/or population structure scenarios. Two bivalve species (Manila clam and common edible cockle) and three fish species (brown trout, silver catfish and small-spotted catshark) were studied. Four SNP panels were evaluated in each species to test both different building-loci pipelines and criteria for SNP selection. Furthermore, for Manila clam and brown trout, a reference genome approach was used as control.ResultsDespite different outcomes were observed between pipelines and species with the diverse SNP calling and filtering steps tested, no remarkable differences were found on genetic diversity and differentiation within species with the SNP panels obtained with a de novo approach. The main differences were found in brown trout between the de novo and reference genome approaches. Genotyped vs missing data mismatches were the main genotyping difference detected between the two building-loci pipelines or between the de novo and reference genome comparisons.ConclusionsTested building-loci pipelines for selection of SNP panels seem to have low influence on population genetics inference across the diverse case-study scenarios here studied. However, preliminary trials with different bioinformatic pipelines are suggested to evaluate their influence on population parameters according with the specific goals of each study.
Characteristics and antithrombotic treatment patterns of patients with concomitant coronary artery disease and atrial fibrillation from Thailand’s COOL-AF registry
Authors: Winijkul Arjbordin , Kaewkumdee Pontawee , Yindeengam Ahthit , Krittayaphong Rungroj 
Published: March 2021

Abstract
Background
Concomitant coronary artery disease (CAD) and atrial fibrillation (AF) are common in clinical practice. The aim of this study was to investigate the characteristics and antithrombotic treatment patterns of patients with concomitant CAD and AF from the COhort of antithrombotic use and Optimal INR Level in patients with non-valvular atrial fibrillation in Thailand (COOL-AF Thailand) registry.

Methods
Registry enrollment criteria included patients aged ≥ 18 years who were diagnosed with AF for any duration at any of 27 public hospitals located across Thailand during 2014–2017. The That Clinical Trials Registry study registration number is TCTR20160113002. Statistical comparisons of characteristics and treatment strategies were performed between patients with and without CAD.

Results
Of a total of 3461 AF patients, 557 had concomitant CAD (16.1%). Patients with concomitant CAD and AF were significantly older, more likely to be male, had more comorbidities, and had more cardiovascular implantable electronic devices. History of stroke/transient ischemic attack and prior bleeding was not significantly different between groups. CHA2DS2-VASc score and HAS-BLED score were both higher in patients with CAD than in patients without CAD (4.17 vs. 2.78, p < 0.001, and 2.01 vs. 1.45, p < 0.001, respectively). Utilization of oral anticoagulant was less in patients with CAD (76.0% vs. 84.3%, p < 0.001). Concomitant use of antiplatelet was found to be a major cause of oral anticoagulant (OAC) underutilization. Specifically, the rate of OAC prescription was 95.9% in patients without antiplatelet, and 43.7% in patients with antiplatelet. Among patients with CAD who were on OAC, the rate of concomitant antiplatelet prescription was still high. In this group, 63% of patients were on triple therapy when percutaneous coronary intervention (PCI) with drug eluting stent was performed within 1 year, and 32.2% of patients without prior PCI or acute coronary syndrome were taking at least one antiplatelet with OAC.

Conclusion
Among patients with concomitant CAD and AF, physicians were reluctant to discontinue antiplatelet. The use of antiplatelet discourages physicians from prescribing OAC. Underutilization of OAC may increase the risk of ischemic stroke, and an inappropriate combination of OAC and antiplatelet may increase the risk of bleeding.
Trial registration The trial has been registered with the Thai Clinical Trials Registry (TCTR) which complied with WHO International Clinical Trials Registry Platform dataset. The Registration Number is TCTR20160113002 (05/01/2016).
Prediction of newborn’s body mass index using nationwide multicenter ultrasound data: a machine-learning study
Authors:   Korean Society of Ultrasound in Obstetrics and Gynecology Research Group, Lee Kwang-Sig , Kim Ho Yeon , Lee Se Jin , Kwon Sung Ok , Na Sunghun , Hwang Han Sung , Park Mi Hye , Ahn Ki Hoon 
Published: March 2021

Abstract
Background
This study introduced machine learning approaches to predict newborn’s body mass index (BMI) based on ultrasound measures and maternal/delivery information.

Methods
Data came from 3159 obstetric patients and their newborns enrolled in a multi-center retrospective study. Variable importance, the effect of a variable on model performance, was used for identifying major predictors of newborn’s BMI among ultrasound measures and maternal/delivery information. The ultrasound measures included biparietal diameter (BPD), abdominal circumference (AC) and estimated fetal weight (EFW) taken three times during the week 21 - week 35 of gestational age and once in the week 36 or later.

Results
Based on variable importance from the random forest, major predictors of newborn’s BMI were the first AC and EFW in the week 36 or later, gestational age at delivery, the first AC during the week 21 - the week 35, maternal BMI at delivery, maternal weight at delivery and the first BPD in the week 36 or later. For predicting newborn’s BMI, linear regression (2.0744) and the random forest (2.1610) were better than artificial neural networks with one, two and three hidden layers (150.7100, 154.7198 and 152.5843, respectively) in the mean squared error.

Conclusions
This is the first machine-learning study with 64 clinical and sonographic markers for the prediction of newborns’ BMI. The week 36 or later is the most effective period for taking the ultrasound measures and AC and EFW are the best predictors of newborn’s BMI alongside gestational age at delivery and maternal BMI at delivery.
Root canal curvature as a prognostic factor influencing the diagnostic accuracy of radiographic working length determination and postoperative canal axis modification: an in vitro comparative study
Authors: Faraj Bestoon Mohammed 
Published: March 2021

Abstract
Background
Radiographic analysis of tooth morphology is mandatory for accurate calibration of the degree of canal curvature angle and radiographic working length to its real dimensions in case difficulty assessment protocols. This study aimed to determine the impact of the degree of root canal curvature angle on maintaining the real working length and the original canal axis of prepared root canals using a reciprocating rotary instrumentation technique.

Methods
Radiographic image analysis was performed on 60 extracted single-rooted human premolar teeth with a moderate canal curvature (10°–25°) and severe canal curvature (26°–70°). Working length and longitudinal canal axis were determined using cone-beam computed tomography (CBCT) and digital periapical radiography. The real canal length was determined by subtracting 0.5 mm from the actual canal length. Root canals were prepared using the WaveOne Gold reciprocating file (Dentsply Maillefer, Ballaigues, Switzerland).

Results
There was no significant relation of the degree of canal curvature angle to the accuracy of radiographic working length estimated on CBCT and digital periapical radiographic techniques (P > 0.05). Postinstrumentation changes in the original canal axis between moderate and severe canal curvature angles, assessed on CBCT and periapical digital radiographic images were statistically non-significant (P > 0.05).

Conclusions
A standardized digital periapical radiographic method performed similarly to the CBCT technique near to its true working length. No significant interaction exists between the diagnostic working length estimation, postoperative root canal axis modification, and the degree of canal curvature angle, using reciprocating rotary instrumentation technique.
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome
Authors: Chen Jing , Xia Zhongmin , Zhou Yulin , Ma Xiaomin , Wang Xudong , Guo Qiwei 
Published: March 2021

Abstract
Background
KBG syndrome is a rare autosomal dominant genetic disease mainly caused by pathogenic variants of ankyrin repeat domain-containing protein 11 (ANKRD11) or deletions involving ANKRD11. Herein, we report a novel de novo heterozygous frameshift ANKRD11 variant via whole exome sequencing in a Chinese girl with KBG syndrome.

Case presentation
A 2-year-2-month-old girl presented with a short stature and developmental delay. Comprehensive physical examinations, endocrine laboratory tests and imaging examination were performed. Whole‐exome sequencing and Sanger sequencing were used to detect and confirm the variant associated with KBG in this patient, respectively. The pathogenicity of the variant was further predicted by several in silico prediction tools. The patient was diagnosed as KBG syndrome with a short stature and developmental delay, as well as characteristic craniofacial abnormalities, including a triangular face, long philtrum, wide eyebrows, a broad nasal bridge, prominent and protruding ears, macrodontia of the upper central incisors, dental crowding, and binocular refractive error. Her skeletal anomalies included brachydactyly, fifth finger clinodactyly, and left-skewed caudal vertebrae. Electroencephalographic results generally showed normal background activity with sporadic spikes and slow wave complexes, as well as multiple spikes and slow wave complexes in the bilateral parietal, occipital, and posterior temporal regions during non-rapid-eye-movement sleep. Brain MRI showed a distended change in the bilateral ventricles and third ventricle, as well as malformation of the sixth ventricle. Whole exome sequencing revealed a novel heterozygous frameshift variant in the patient, ANKRD11 c.1366_1367dup, which was predicted to be pathogenic through in silico analysis. The patient had received physical therapy since 4 months of age, and improvement of gross motor dysfunction was evident.

Conclusions
The results of this study expand the spectrum of ANKRD11 variants in KBG patients and provide clinical phenotypic data for KBG syndrome at an early age. Our study also demonstrates that whole exome sequencing is an effective method for the diagnosis of rare genetic disorders.
Label-free proteomics uncovers SMC1A expression is Down-regulated in AUB-E
Authors: Jia Yingxian , Luo Jie , Lan Yibing , Li Chunming , Ma Linjuan , Zhu Xiaoming , Ruan Fei , Zhou Jianhong 
Published: March 2021

Abstract
Background
While heavy menstrual bleeding (HMB) is a prevalent symptom among women with abnormal uterine bleeding caused by endometrial disorder (AUB-E) seeking gynecologic care, the primary endometrial disorder remains poorly understood.

Methods
Five human endometrial samples from women with AUB-E and the age-matched healthy women were selected, respectively. Proteins from the samples were analyzed by a linear ion trap (LTQ)-Orbitrap Elite mass spectrometer based label-free proteomic approach. The purpose protein was validated by western blot and immunohistochemistry staining.

Results
A total of 2353 protein groups were quantified under highly stringent criteria with a false discovery rate of < 1% for protein groups, and 291 differentially expressed proteins were significantly changed between the two groups. The results showed that the down-regulation of structural maintenance of chromosomes protein 1A (SMC1A) in AUB-E patients. Next, this change in the glandular epithelial cells was validated by immunohistochemistry.

Conclusion
The results indicated a novel mechanism for the cause of AUB-E, as down-expression SMC1A potentially regulated the cell cycle progression in endometrial glandular epithelium further led to bleeding.