bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of a novel pathogenic MLH1 mutation and recommended genetic screening strategy: An investigation of three Chinese Lynch syndrome pedigrees
Authors: Li Fan , Xia Yunwei , Wang Guoguang , Tang Chaoyang , Zhan Tian , Shen Jian , Zhang Jianping 
Published: June 2020

AbstractBackgroundLynch syndrome (LS) is an autosomal‐dominant disorder that increases the risk of many cancers. The genetic basis of LS is germline mutations in DNA mismatch repair genes.MethodsWe performed next‐generation sequencing on blood cells obtained from the members of three unrelated LS pedigrees. Immunohistochemistry staining was performed to analyze protein expression.ResultsMultigene panel screening revealed three mutL homolog 1 (MLH1) pathogenic mutations (c.199G>A, c.790 + 1G>A, and c.1557_1558 + 8delGGGTACGTAA, unreported) confirmed by Sanger sequencing. Immunohistochemistry showed a loss of MLH1 protein expression. We also confirmed that the unreported mutant allele was inherited for at least three generations.ConclusionThese results provide new insights into the molecular mechanisms underlying the pathogenicity of MLH1 mutations and reaffirm the importance of genetic screening for the early diagnosis of LS.
Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
Authors: Dai Ying , Wei Yongjuan , Chen Yuanyuan , Guo Hui , Zhong Min 
Published: June 2020

AbstractBackgroundGenetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful in identifying these genetic causes.MethodsWe enrolled two girl siblings with ID. Trio whole‐exome sequencing (WES) and Copy number variation sequencing (CNV‐Seq) were performed for genetic molecular analysis in these probands and their parents. The parents also accepted high‐resolution G‐banded karyotype studies.ResultsNo significant homozygous or heterozygous variants were identified through WES. By CNV‐seq, we identified an abnormal 3p26.3p25.3 microdeletion and 14q32.13q32.33 microduplication in the two girl siblings but not in their parents. A balanced translocation 46, XX, t (3, 14) (p25; q32) was found in their mother.ConclusionThe affected siblings have similar phenotype, including ID, short stature, and microcephaly. Their mother had a history of seven first‐trimester miscarriages and one elective termination because of multiple malformations. This abnormal karyotype was also thought to be responsible for the mother's recurrent miscarriage. WES in combination with CNV‐seq analysis is very helpful for identification of the genetic causes of ID without positive karyotype findings.
Miniaturized antenna using DGS and meander structure for dual‐band application
Authors: Swetha Avula , Naidu Kurukundu Rama 
Published: June 2020

AbstractIn this article, the design of a miniaturized planar antenna using defected ground structure (DGS) and meander line structure for C and X‐band applications is presented. A novel star‐shaped and a rectangle DGS created on the ground plane of lambda/4 fed planar antenna and its effect on the size reduction performance is analyzed. Initially, a simple basic antenna (antenna‐1) operates at 14.9 GHz with a reflection coefficient (S11) of −34.56 dB is designed. To achieve miniaturization of 51.27% and 36.77% an antenna is designed by DGS and meander line structure (antenna‐2), which operates at dual‐band frequencies 7.26 and 9.42 GHz with a reflection coefficient (S11) of −32.91 and −22.84 dB, respectively, is presented. The suggested antenna is fabricated on a 1.6 mm thickness of FR4 Epoxy substrate to achieve a reasonable peak gain and directivity of 3.64 and 5.94 dBi at 7.26 GHz, 3.23 and 5.44 dBi at 9.42 GHz, respectively, is achieved.
Whole‐heart, ungated, free‐breathing, cardiac‐phase‐resolved myocardial perfusion MRI by using Continuous Radial Interleaved simultaneous Multi‐slice acquisitions at sPoiled steady‐state (CRIMP)
Authors: Tian Ye , Mendes Jason , Wilson Brent , Ross Alexander , Ranjan Ravi , DiBella Edward , Adluru Ganesh 
Published: June 2020

PurposeTo develop a whole‐heart, free‐breathing, non‐electrocardiograph (ECG)‐gated, cardiac‐phase‐resolved myocardial perfusion MRI framework (CRIMP; Continuous Radial Interleaved simultaneous Multi‐slice acquisitions at sPoiled steady‐state) and test its quantification feasibility.MethodsCRIMP used interleaved radial simultaneous multi‐slice (SMS) slice groups to cover the whole heart in 9 or 12 short‐axis slices. The sequence continuously acquired data without magnetization preparation, ECG gating or breath‐holding, and captured multiple cardiac phases. Images were reconstructed by a motion‐compensated patch‐based locally low‐rank reconstruction. Bloch simulations were performed to study the signal‐to‐noise ratio/contrast‐to‐noise ratio (SNR/CNR) for CRIMP and to study the steady‐state signal under motion. Seven patients were scanned with CRIMP at stress and rest to develop the sequence. One human and two dogs were scanned at rest with a dual‐bolus method to test the quantification feasibility of CRIMP. The dual‐bolus scans were performed using both CRIMP and an ungated radial SMS saturation recovery (SMS‐SR) sequence with injection dose = 0.075 mmol/kg to compare the sequences in terms of SNR, cardiac phase resolution and quantitative myocardial blood flow (MBF).ResultsPerfusion images with multiple cardiac phases in all image slices with a temporal resolution of 72 ms/frame were obtained. Simulations and in‐vivo acquisitions showed CRIMP kept the inner slices in steady‐state regardless of motion. CRIMP outperformed SMS‐SR in slice coverage (9 over 6), SNR (mean 20% improvement), and provided cardiac phase resolution. CRIMP and SMS‐SR sequences provided comparable MBF values (rest systolic CRIMP = 0.58 ± 0.07, SMS‐SR = 0.61 ± 0.16).ConclusionCRIMP allows for whole‐heart, cardiac‐phase‐resolved myocardial perfusion images without ECG‐gating or breath‐holding. The sequence can provide MBF if an accurate arterial input function is obtained separately.
Ethical Framework for Nutrition Support Resource Allocation During Shortages: Lessons From COVID‐19
Authors: Barrocas Albert , Schwartz Denise Baird , Hasse Jeanette M. , Seres David S. , Mueller Charles M. 
Published: June 2020

AbstractThe coronavirus disease 2019 (COVID‐19) pandemic has impacted all aspects of our population. The “Troubling Trichotomy” of what can be done technologically, what should be done ethically, and what must be done legally is a reality during these unusual circumstances. Recent ethical considerations regarding allocation of scarce resources, such as mechanical ventilators, have been proposed. These can apply to other disciplines such as nutrition support, although decisions regarding nutrition support have a diminished potential for devastating outcomes. The principal values and goals leading to an ethical framework for a uniform, fair, and objective approach are reviewed in this article, with a focus on nutrition support. Some historical aspects of shortages in nutrition supplies and products during normal circumstances, as well as others during national crises, are outlined. The development and implementation of protocols using a scoring system seems best addressed by multidisciplinary ethics and triage committees with synergistic but disparate functions. Triage committees should alleviate the burdens of unilateral decisions by the healthcare team caring for patients. The treating team should make every attempt to have patients and the public at large update or execute/develop advance directives. Legal considerations, as the third component of the Troubling Trichotomy, are of some concern when rationing care. The likelihood that criminal or civil charges could be brought against individual healthcare professionals or institutions can be minimized, if fair protocols are uniformly applied and deliberations well documented.
Exploring the complex interactions of baseline patient factors to improve nursing triage of acute coronary syndrome
Authors: Frisch Stephanie O. , Brown Julissa , Faramand Ziad , Stemler Jennifer , Sejdić Ervin , Martin‐Gill Christian , Callaway Clifton , Sereika Susan M. , Al‐Zaiti Salah S. 
Published: June 2020

AbstractEmergency department (ED) nurses need to identify patients with potential acute coronary syndrome (ACS) rapidly because treatment delay could impact patient outcomes. Aims of this secondary analysis were to identify key patient factors that could be available at initial ED nurse triage that predict ACS. Consecutive patients with chest pain who called 9‐1‐1, received a 12‐lead electrocardiogram in the prehospital setting, and were transported via emergency medical service were included in the study. A total of 750 patients were recruited. The sample had an average age of 59 years old, was 57% male, and 40% Black. One hundred and fifteen patients were diagnosed with ACS. Older age, non‐Caucasian race, and faster respiratory rate were independent predictors of ACS. There was an interaction between heart rate by Type II diabetes receiving insulin in the context of ACS. Type II diabetics requiring insulin for better glycemic control manifested a faster heart rate. By identifying patient factors at ED nurse triage that could be predictive of ACS, accuracy rates of triage may improve, thus impacting patient outcomes.
Using motivational interviewing to enhance emerging adults' engagement in weight loss: The Live Well RVA pilot randomized clinical trial
Authors: LaRose Jessica Gokee , Gorin Amy A , Fava Joseph L. , Bean Melanie K. , Lanoye Autumn , Robinson Elizabeth , Carey Kate 
Published: June 2020

SummaryBackgroundEmerging adults (ages 18–25) are at high risk for overweight/obesity, yet traditional adult behavioural weight loss (BWL) interventions do not meet the needs of individuals at this developmental stage. Motivational interviewing (MI) is an evidence‐based approach to promote behaviour change but has not been tested for weight loss in this population. The study aimed to test the feasibility and preliminary efficacy of an MI‐enhanced weight loss programme to promote engagement, retention and weight loss in emerging adults.MethodsEmerging adults with overweight/obesity (N = 47, 81% female, 47% racial/ethnic minority, body mass index [BMI] = 33.2 ± 4.6 kg/m2) were randomized to either standard BWL or MI‐enhanced BWL (MIBWL). Weight was assessed objectively at baseline and posttreatment (3 months). Engagement (in‐person session attendance [weeks 1 and 2], online self‐monitoring [weeks 3–12] and online content viewing [weeks 3–12]) was tracked throughout the program.ResultsThough results did not reach the level of statistical significance, participants in MIBWL demonstrated greater programme engagement (77% vs. 61.0%, p = .11; Cohen d = .48), retention (71% vs. 48.0%, p = .10; Cohen h = .47) and intent‐to‐treat weight loss (−3.3% vs. −2.2%, p = .37; Cohen d = .26) compared with those in BWL.ConclusionsEffect sizes suggest that MI might be a viable approach to enhance engagement and retention in weight loss programmes targeting emerging adults. This finding is meaningful, given the documented challenges with engagement and retention in this vulnerable population and the relationship between engagement and better weight loss outcomes. The results of this small pilot study support efforts to replicate these findings within the context of a fully powered trial.
Parents lose less weight than nonparents in an intensive lifestyle intervention
Authors: Bramante Carolyn T. , Thornton Rachel L. J. , Pilla Scott J. , Maruthur Nisa M. , Venkataramani Maya , Clark Jeanne M. 
Published: June 2020

SummaryObjectiveUnderstand whether parents lose less weight than nonparents in behavioural weight interventions.MethodsThe Look AHEAD (Action for Health in Diabetes) trial randomized adults with Type 2 diabetes and overweight to an intensive lifestyle intervention (ILI) or control (diabetes support and education [DSE]). Participants who reported living with a child under age 18 were designated as ‘parents’ for this analysis. Intention to treat analysis was performed of the effect of the ILI on change in weight at 1 year by parental status. Adherence to attending intervention visits was compared between parents and nonparents. Subgroup analyses were done based on previous subgroup findings in the Look AHEAD study.ResultsAmong 4,547 participants, 15% were parents. Parents were younger and more likely to have self‐identified as African American or Hispanic/Latino. Comparing ILI with DSE, parents lost less weight than nonparents (−7.1% vs. −8.3%, p = 0.021). African American female parents lost 4% body weight compared with 7% in African American female nonparents (p = 0.01).ConclusionsIn a randomized trial, parents lost less weight than nonparents, and this difference was largest for African American women. These findings suggest parents face unique challenges achieving weight loss; more research is needed to understand and optimize interventions for parents.
Polyaniline/sulfonated‐covalent organic polymer nanocomposite: Structural and dye adsorption properties
Authors: Afshari Mohaddeseh , Dinari Mohammad , Moradi Hanieh , Noori Zahra 
Published: June 2020

AbstractThe aim of this work is developing an adsorbent for the removal of anionic Acid Blue 45 dye from aqueous solutions. In this regard, the polyaniline/sulfonated‐covalent organic polymer nanocomposites (PANI/S‐COP NCs) were synthesized by in situ chemical polymerization method. The structure and morphology of these prepared nanocomposites were characterized by different techniques. The structural stability of the synthesized adsorbent was examined under different pH conditions. To optimize the adsorption conditions, various parameters such as pH, dye concentration, adsorbent dosage, contact time, and temperature were investigated. The maximum adsorption capacity of the prepared composite for 100 ppm of dye (at 25.0°C, pH: 5, and time: 120 minutes as optimum conditions) was 117 mg g−1. Different adsorption models were applied for the fitting of the obtained experimental data. It was found that the adsorption data can be well fitted to the linear Langmuir model (R2: .999). The adsorption kinetics can also be well described by the linear pseudo‐second‐order model, indicating the chemical adsorption mechanism for the dye molecules on the PANI/S‐COP NCs surface.
Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP)
Authors: Virgone Calogero , Andreetta Marina , Avanzini Stefano , Chiaravalli Stefano , De Pasquale Maria Debora , Crocoli Alessandro , Inserra Alessandro , D'Angelo Paolo , Alaggio Rita , Opocher Giuseppe , Cecchetto Giovanni , Ferrari Andrea , Bisogno Gianni , Dall'Igna Patrizia 
Published: June 2020

AbstractBackgroundPheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra‐adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated.Materials and methodsAmong over 1000 patients registered into the Tumori Rari in Età Pediatrica—rare tumors in pediatric age project—from 2000 to 2019, 50 were affected by PC/PGL. All clinical and therapeutic data were evaluated.ResultsTwenty‐eight patients had PC and 22 had PGL. Age at diagnosis ranged between 5 and 17 years. Thirty‐five patients had symptoms related to catecholamine hypersecretion; in 7 of 50 patients, diagnosis was incidental or done during assessment of a familial syndrome. In all cases, conventional imaging was effective to assess the presence of a tumor. In addition, 18 of 38 functional imaging studies were positive (61%). Forty‐eight patients were eligible for surgery: a complete resection was more frequently achieved in PC than in PGL (26/28 vs 11/22). All relapses were treated with surgery alone, surgery plus medical treatment, or chemotherapy alone; one PC with metastasis at diagnosis received radiotherapy only. Forty‐four patients were in the first, second, or third complete remission (10/50 recurred; 8/10 carried a germline mutation). Five of 50 patients were alive with disease. One patient died of disease.ConclusionsSurgery can be curative in most tumors but it may not be always effective in removing PGLs. Severe postsurgical sequelae may affect these patients. Genetic tests should always be considered in individuals affected, and genetic counseling should be offered to their families.
Clinical manifestations of children with COVID‐19: A systematic review
Authors: de Souza Tiago H. , Nadal José A. , Nogueira Roberto J. N. , Pereira Ricardo M. , Brandão Marcelo B. 
Published: June 2020

AbstractBackgroundThe coronavirus disease 2019 (COVID‐19) outbreak is an unprecedented global public health challenge, leading to thousands of deaths every day worldwide. Despite the epidemiological importance, clinical patterns of children with COVID‐19 remain unclear. The aim of this study was to describe the clinical, laboratorial, and radiological characteristics of children with COVID‐19.MethodsThe Medline database was searched between December 1st 2019 and April 6th 2020. No language restrictions were applied. Inclusion criteria were (a) studied patients younger than 18 years old; (b) presented original data from cases of COVID‐19 confirmed by reverse‐transcription polymerase chain reaction; and (c) contained descriptions of clinical manifestations, laboratory tests, or radiological examinations.ResultsA total of 38 studies (1124 cases) were included. From all the cases, 1117 had their severity classified: 14.2% were asymptomatic, 36.3% were mild, 46.0% were moderate, 2.1% were severe, and 1.2% were critical. The most prevalent symptom was fever (47.5%), followed by cough (41.5%), nasal symptoms (11.2%), diarrhea (8.1%), and nausea/vomiting (7.1%). One hundred forty‐five (36.9%) children were diagnosed with pneumonia and 43 (10.9%) upper airway infections were reported. Reduced lymphocyte count was reported in 12.9% of cases. Abnormalities in computed tomography were reported in 63.0% of cases. The most prevalent abnormalities reported were ground‐glass opacities, patchy shadows, and consolidations. Only one death was reported.ConclusionsClinical manifestations of children with COVID‐19 differ widely from adult cases. Fever and respiratory symptoms should not be considered a hallmark of COVID‐19 in children.
Development of ultrahigh‐performance liquid chromatography/mass spectrometry and ultrahigh‐performance supercritical fluid chromatography/mass spectrometry assays to determine the concentration of Bitrex™ and sodium saccharin in homemade facemask fit testing solutions
Authors: Herniman Julie M. , Langley G. John 
Published: June 2020

RationaleFast and easily transferable chromatography/mass spectrometry assays were required to detect and quantify the amount of Bitrex™ and sodium saccharin in homemade facemask fit testing solutions.MethodsBitrex™ solutions were analysed using reversed‐phase ultrahigh‐performance liquid chromatography coupled with positive ion electrospray ionisation mass spectrometry (UHPLC/ESI‐MS). Separation was achieved using a mobile phase gradient with an Acquity BEH C18‐packed column. Sodium saccharin solutions were analysed using ultrahigh‐performance supercritical fluid chromatography coupled with negative ion electrospray ionisation (UHPSFC/ESI‐MS). Separation was achieved using isocratic elution with an Acquity UPC2 Torus Diol packed column and a methanol (25 mM ammonium acetate) co‐solvent.ResultsThe calibration curves obtained using the ratio of the active compound to an internal standard generated linear regression values (R2) >0.99. Samples analysed prior to and after an autoclave sterilisation process and bottling gave repeatable measurements within 10% of the expected concentration.ConclusionsThe two assays afford a fast robust and quantitative analytical method for the detection of the active components used to test the efficacy of the homemade facemask testing solutions.
Evaluation of two lipid removal methods for stable carbon and nitrogen isotope analysis in whale tissue
Authors: Smith Kerri J. , Trueman Clive N. , France Christine A.M. , Peterson Markus J. 
Published: June 2020

RationaleThe presence of lipids in animal tissues can influence the interpretation of stable isotope data, particularly in lipid‐rich tissues such as the skin and muscle of marine mammals. The traditionally employed chloroform–methanol delipidation protocol has the potential to alter δ15N values in proteinaceous tissues. Our objective was to determine whether the use of cyclohexane could be an alternative extraction method, effectively removing lipids without altering δ15N values.MethodsKidney, liver, muscle, and skin samples were collected from beach‐cast Sowerby's beaked whales (Mesoplodon bidens). Control subsamples were processed without delipidation extraction, and duplicate subsamples were extracted with either chloroform–methanol or cyclohexane. δ13C, δ15N, and C:N values were determined by continuous‐flow elemental analysis isotope ratio mass spectrometry. Paired Wilcoxon tests were used to evaluate the change in isotope ratios after extraction, and unpaired Wilcoxon tests were used to evaluate differences in isotope ratios between extractions.ResultsUse of cyclohexane is an effective delipidation technique for tissues with low and moderate lipid content. Chemical delipidation influenced δ15N values; extracted samples generally showed an increase in δ15N values which varied from 0.0‰ to 1.7‰. Chloroform–methanol extraction resulted in alterations to δ15N values greater than the analytical precision for all analyzed tissues. Changes to δ15N values after cyclohexane extraction were at or near the analytical precision for liver and muscle but greater than the analytical precision for kidney and skin.ConclusionsWe recommend processing duplicate subsamples for stable isotope analysis, one with and one without extraction, in order to obtain accurate values for each isotope ratio. Prolonged chemical extractions are not necessary to effectively remove lipids. When samples are limited, we suggest using cyclohexane for tissues with low or moderate lipid content, and chloroform–methanol for lipid‐rich tissues.