bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association of IRGM gene promoter polymorphisms with hepatitis B virus infection
Authors: Sharma Ambika , Duseja Ajay , Parkash Jyoti , Changotra Harish 
Published: June 2022

AbstractBackgroundIn response to intracellular pathogens, the autophagy gene IRGM plays an essential role in the innate immune response. Various identified IRGM gene risk loci are associated with several diseases but, so far, no study is available that shows the association of IRGM with hepatitis B virus (HBV) infection.MethodsWe genotyped promoter variants (rs4958842, rs4958843, and rs4958846) of IRGM in HBV infected patients (551) and healthy controls (247) for their role in HBV infection. The genotyping was performed by applying methods developed in our laboratory and various biochemical parameters were assessed applying commercially available kits.ResultsData analysis has shown that the mutant allele A of rs4958842 plays a role in the protection from HBV infection in various genetic models that includes allelic, co‐dominant and dominant models with the respective statistical data: allelic (odds ratio [OR] = 0.61; 95% confidence interval [CI] = 0.48–0.78; p = 0.0003), co‐dominant (OR = 0.52; 95% CI = 0.38–0.71; p = 0.0008) and dominant (OR = 0.51; 95% CI = 0.38–0.70, p = 0.0004). In chronic hepatitis B (CHB), protective association was observed in the allelic (OR = 0.48; 95% CI = 0.35–0.65, p = 0.0004), co‐dominant (OR = 0.38; 95% CI = 0.26–0.54, p = 0.0004) and dominant (OR = 0.38; 95% CI = 0.26–0.54, p = 0.0002) models. Mutant allele C of rs49598843 was associated with the risk of CHB in co‐dominant (OR = 1.52; 95% CI = 1.07–2.16, p = 0.04) and dominant (OR = 1.41; 95% CI = 1.00–2.00, p = 0.04) models. The mutant allele C of rs4958846 decreased the risk of HBV infection in allelic (OR = 0.74; 95% CI = 0.59–0.92, p = 0.01), dominant (OR = 0.72; 95% CI = 0.53–0.98, p = 0.05), homozygous (OR = 0.42; 95% CI = 0.24–0.74, p = 0.01) and recessive (OR = 0.42; 95% CI = 0.24–0.74, p = 0.0004) models. However, in the asymptomatic group, it was associated with the increased chance of HBV infection. Haplotypes, ATT (OR = 0.47; 95% CI = 0.33–0.68, p = 0.001) and GTC (OR = 0.68; 95% CI = 0.51–0.92, p = 0.01) protect, whereas GTT (OR = 2.01; 95% CI = 1.55–2.60, p < 0.0001) predisposes the individuals to HBV infection. All of these p values mentioned here were obtained after performing Bonferroni correction.ConclusionsIn conclusion, our findings revealed that mutant allele A of rs4958842, mutant allele C of rs4958843 and rs4958846 were associated with hepatitis B virus infection in the North Indian population.
Association between polymorphisms of ABCB1 and prognosis in esophageal squamous cell carcinoma patients treated with taxane
Authors: Sun Zhiwei , Yang Xin , Du Feng , Shi Youwu , Sun Jing , Jia Jun , Liu Chuanling , Xiao Yanjie , Yu Jing , Zhang Xiaodong , Yang Ying 
Published: June 2022

AbstractBackgroundIn China, most esophageal cancer patients are squamous cell carcinomas and are treated with taxane‐containing regimens; however, few studies have examined taxane pharmacokinetics genes and esophageal squamous cell carcinoma (ESCC) prognosis.MethodsIn total, 227 pathologically confirmed ESCC patients receiving chemotherapy with taxane were included in the analysis. We genotyped seven SNPs (rs1045642, rs2032582 and rs3213619 of ABCB1; rs2231137 and rs2231142 of ABCG2; and ABCC1 rs246221 and ABCC2 rs3740066) and analyzed their relationship with overall survival.ResultsWith a retrospective cohort study design, by Cox regression and semi‐Bayesian shrinkage, in the genetic recessive model, the variant homozygote of ABCB1 rs1045642 was inversely associated with survival (semi‐Bayesian shrinkage crude hazard ratio = 1.82, 95% confidence interval = 1.00, 3.31; p = 0.0482).ConclusionsBecause of inherent defects of the research itself, the finding that the ABCB1 rs1045642 variant was related to poor prognosis in ESCC patients treated with taxane‐containing regimens needs to be tested in a larger population and by using more genetic and molecular mechanism experiments.
Clinical efficacy and in vitro neutralization capacity of monoclonal antibodies for severe acute respiratory syndrome coronavirus 2 delta and omicron variants
Authors: Brehm Thomas Theo , Pfefferle Susanne , von Possel Ronald , Karolyi Mario , Zoufaly Alexander , Wichmann Dominic , Kobbe Robin , Emmerich Petra , Nörz Dominik , Aepfelbacher Martin , Schulze zur Wiesch Julian , Addo Marylyn M. , Schmiedel Stefan , Lütgehetmann Marc 
Published: June 2022

AbstractWe aimed to provide in vitro data on the neutralization capacity of different monoclonal antibody (mAb) preparations against the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) delta and omicron variant, respectively, and describe the in vivo RNA kinetics of coronavirus disease 2019 (COVID‐19) patients treated with the respective mAbs. Virus neutralization assays were performed to assess the neutralizing effect of the mAb formulations casirivimab/imdevimab and sotrovimab on the SARS‐CoV‐2 delta and omicron variant. Additionally, respiratory tract SARS‐CoV‐2 RNA kinetics are provided for 25 COVID‐19 patients infected with either delta variant (n = 18) or omicron variant (n = 7) treated with the respective mAb formulations during their hospital stay. In the virus neutralization assay, sotrovimab exhibits neutralizing capacity at therapeutically achievable concentrations against the SARS‐CoV‐2 delta and omicron variant. In contrast, casivirimab/imdevimab had neutralizing capacity against the delta variant but failed neutralization against the omicron variant except for a very high concentration above the currently recommended therapeutic dosage. In patients with delta variant infections treated with casivirimab/imdevimab, we observed a rapid decrease of respiratory viral RNA at day 3 after mAb therapy. In contrast, no such prompt decline was observed in patients with delta variant or omicron variant infections receiving sotrovimab.
Functional outcome and CEUS‐assessed deltoid muscle vitality after fracture‐specific versus standard prosthetic design in reverse shoulder arthroplasty for trauma
Authors: Doll Julian , Neide Arndt , Mick Paul , Brunnemer Ulf , Schmidmaier Gerhard , Fischer Christian 
Published: June 2022

AbstractFunctional outcome after reverse‐shoulder‐arthroplasty (RSA) in proximal humerus fractures (PHF) depends on deltoid muscle integrity and successful reattachment of the tuberosities for best possible recovery of rotator‐cuff function. In this monocentric, prospective, randomized, controlled trial we investigated whether a reverse‐fracture‐prosthesis (RFP) with a metaphyseal fenestrated stem achieved superior shoulder and muscle function compared to a common reverse‐prosthesis (RP) design for patients with PHF. Our hypothesis was that patients with RFP may achieve a superior healing rate of the greater tuberosity (GT) compared to patients receiving RP, which translates to significantly higher clinical outcome and functional scores as well as differences in deltoid muscle microperfusion. Forty‐four patients with PHF were randomized preoperatively to one of the prosthesis types in RSA between 2018 and 2020 (22 with RFP and 22 with RP) and prospectively assessed 6 months after surgery. We assessed osteointegration of the GT with radiographs 1 day and 6 months postoperatively and examined shoulder function and patient satisfaction by using established shoulder scores. A contrast‐enhanced ultrasound (CEUS) examination of both shoulders was performed to quantify intramuscular blood flow and evaluate vitality of the deltoid muscle. None of the functional and psychosocial scores or radiographs and ultrasound examinations showed significant differences between the RSA designs. The constant‐Murley score (p = 0.384) and active anterior‐elevation‐abduction, and external rotation were comparable between the RFP and RP group. Similar healing rates of the GT were observed (p = 0.655). CEUS‐assessed deltoid microperfusion revealed equivalent muscle vitality for both groups (p = 0.312). Level of evidence: Level II; Randomized Controlled Trial; Treatment Study. Clinical significance: The radiographic evaluation for the investigation of the GT healing rate indicates that the proclaimed benefits of the fracture prosthesis with fenestration design might not be as great as expected.
Depth of mucosal tunnel in peri‐implant health during 12‐month follow‐up in patients with controlled periodontitis
Authors: Lin Cho‐Ying , Kuo Pe‐Yi , Chiu Meng‐Yao , Wang Hom‐Lay 
Published: June 2022

AbstractBackgroundThe association between thickness of peri‐implant mucosa, known as mucosal tunnel (MT) and related clinical parameters in bone‐level implants has not been investigated.MethodsPosterior implants, in patients with controlled periodontitis, were evaluated at different time intervals: during uncovering surgery (T0), 2‐month after uncovering surgery (T2M) and 12‐month after placement (T12M). Clinical parameters including vertical soft tissue height (VSTH), MT, tooth‐implant discrepancy of bone level (DBL), pocket depth (PD), peri‐implant marginal bone loss (MBL), emergence profile and emergence angle (EA) were collected, and the correlation were assessed at different time points.ResultsForty‐two patients with 60 implants were recruited, and 81.7% of the patients were Stage III‐IV, Grade B–C generalized periodontitis. MT presented no significant difference in PD, VSTH, and MBL. Periodontitis Grade C and absence of bone regeneration were significant predictors for deep MT (>3 mm), and 5.850 less EA at mesial side of implants (p = 0.02).The regression of analysis implied the increase of DBL 1 mm would cause 0.26 mm deeper MT, 1.7 times higher risk of having deep MT (p = 0.041; OR = 1.731; 95% CI:1.02–2.93) and 2.1 times higher risk of having circumferential PD > 4 mm (p = 0.019; OR = 2.1; 95% CI:1.13–3.92).ConclusionsIn bone‐level implants, a correlation between MT and clinical parameters at 12‐month follow‐up was not found. However, history of periodontitis Grade C, absence of bone regeneration and tooth‐implant discrepancy of bone level might define the depth of MT. Additionally, the depth of MT played a critical role in determining restorative design.
New evidence of genetic heterogeneity causing hereditary gingival fibromatosis and ALK and CD36 as new candidate genes
Authors: Machado Renato Assis , de Andrade Rodrigo Soares , Pêgo Sabina Pena Borges , Krepischi Ana Cristina Victorino , Coletta Ricardo D. , Martelli‐Júnior Hercílio 
Published: June 2022

AbstractBackgroundHereditary gingival fibromatosis (HGF) is an uncommon genetic condition characterized by slow but progressive fibrous, non‐hemorrhagic, and painless growth of the gingival tissues due to the increased deposition of collagen and other macromolecules of the extracellular matrix. HGF occurs in approximately 1:750,000 individuals and can exhibit dominant or recessive inheritance. To date, five loci (2p21‐p22, 2p22.3‐p23.3, 4q12, 5q13‐q22, and 11p15) and three genes [REST (RE1‐silencing transcription factor), SOS1 (Son‐of‐Sevenless‐1), and ZNF862 (zinc finger protein 862 gene)] have been associated with HGF. Here, our study aimed to identify genetic variants associated with HGF by applying whole‐exome sequencing (WES) and bioinformatics analyses.MethodsThirteen Brazilian individuals with HGF and nine relatives without HGF from four unrelated families were chosen for our investigation. Blood collected from the patients and their relatives were used for WES. Five Web‐available tools, namely, CADD, PolyPhen, SIFT, Mutation Taster, and Franklin's algorithms, were used to predict protein damage.ResultsWES revealed pathogenic variants affecting the known HGF genes REST (c.1491_1492delAG) and SOS1 (c.3265_3266insTAAC) in two families. Additionally, potentially pathogenic variants segregating in the other two families were mapped to ALK receptor tyrosine kinase gene (ALK) (c.361C > T) and to collagen type I receptor and thrombospondin receptor gene (CD36) (c.1133G > T).ConclusionOur findings reinforce the high genetic heterogeneity of HGF, identifying new variants in HGF known genes (REST and SOS1) and ALK and CD36 as new genes that cause HGF.
Influence of postharvest processing on the quality and sensory profile of groups of arabica coffee genotypesc
Authors: Nadaleti Denis Henrique Silva , de Rezende Abrahão Juliana Costa , Malta Marcelo Ribeiro , dos Santos Cyntia Stephania , Pereira Antonio Alves , Carvalho Gladyston Rodrigues 
Published: June 2022

AbstractBACKGROUNDThis study combined qualitative and quantitative approaches to obtain a better understanding of the sensory quality of beverages made from Arabic coffee genotypes subjected to different processing methods. Over 3 consecutive years, 270 accessions of Arabic coffee from the germplasm collection of Minas Gerais State, Brazil, were sensorially characterized after dry postharvest processing. At the end of this period, the 26 genotypes with the greatest potential for the production of specialty coffees were subjected to dry and wet processing. Granulometry and sensory quality were evaluated by scoring and describing the sensory profiles of the samples.RESULTSAdequate management during all postharvest stages maintained the potential coffee quality, regardless of processing. All of the coffees studied were classified as special. There was variation in the perceived nuances of the sensory attributes among the groups of genotypes and as a function of postharvest processing, with emphasis on the increased frequency of high levels of sweetness in wet processing. Among the aroma/flavor sensory attributes, the caramel subcategory, as a long and pleasant aftertaste, were predominant in all of the genotypes studied, regardless of the type of processing.CONCLUSIONThe differences in the perceptions of aroma/flavor and aftertaste in different processes were easier to identify in the commercial cultivars studied, as well as in the Bourbon accessions of Timor Hybrid and their derivatives. The access MG 0159 Maragogipe Hybrid F1 stood out in terms of all of the evaluated characteristics, regardless of the processing method used. © 2022 Society of Chemical Industry.
Outcomes of robotic‐assisted versus open radical cystectomy in a large‐scale, contemporary cohort of bladder cancer patients
Authors: Hoeh Benedikt , Flammia Rocco S. , Hohenhorst Lukas , Sorce Gabriele , Chierigo Francesco , Panunzio Andrea , Tian Zhe , Saad Fred , Gallucci Michele , Briganti Alberto , Terrone Carlo , Shariat Shahrokh F. , Graefen Markus , Tilki Derya , Antonelli Alessandro , Kluth Luis A. , Becker Andreas , Chun Felix K. H. , Karakiewicz Pierre I. 
Published: June 2022

AbstractBackground and ObjectivesTo test for differences in perioperative outcomes and total hospital costs (THC) in nonmetastatic bladder cancer patients undergoing open (ORC) versus robotic‐assisted radical cystectomy (RARC).MethodsWe relied on the National Inpatient Sample database (2016–2019). Statistics consisted of trend analyses, multivariable logistic, Poisson, and linear regression models.ResultsOf 5280 patients, 1876 (36%) versus 3200 (60%) underwent RARC versus ORC. RARC increased from 32% to 41% (estimated annual percentage change [EAPC]: + 8.6%; p = 0.02). Rates of transfusion (8% vs. 16%), intraoperative (2% vs. 3%), wound (6% vs. 10%), and pulmonary (6% vs. 10%) complications were lower in RARC patients (all p < 0.05). Moreover, median length of stay (LOS) was shorter in RARC (6 vs. 7days; p < 0.001). Conversely, median THC (31,486 vs. 27,162$; p < 0.001) were higher in RARC. Multivariable logistic regression‐derived odds ratios addressing transfusion (0.49), intraoperative (0.53), wound (0.68), and pulmonary (0.71) complications favored RARC (all p < 0.01). In multivariable Poisson and linear regression models, RARC was associated with shorter LOS (Rate ratio:0.86; p < 0.001), yet higher THC (Coef.:5,859$; p < 0.001). RARC in‐hospital mortality was lower (1% vs. 2%; p = 0.04).ConclusionsRARC complications, LOS, and mortality appear more favorable than ORC, but result in higher THC. The favorable RARC profile contributes to its increasing popularity throughout the United States.
Phytochemical identification of Xiaoer Huanglong Granule and pharmacokinetic study in the rat using its seven major bioactive components
Authors: Liu Jing , You Longtai , Yang Chunjing , Sai Na , Wu Huimin , Sun Mingyi , Cai Mengru , Peng Hulinyue , Liang Xiao , Yin Xingbin , Ni Jian 
Published: June 2022

Xiaoer Huanglong Granule is the only Chinese Patent Medicine widely used for treating attention deficit hyperactivity disorder. However, not much is known about the bioactive components and pharmacokinetics of Xiaoer Huanglong Granule even after it was successfully introduced into clinical use. This study analyzed the components in the medication and rat plasma after oral administration with the help of the UNIFI platform and Masslynx. A total of 119 and 37 components were detected in the medication and plasma, respectively, using an ultra‐performance liquid chromatography‐tandem mass spectrometer. We established a rapid and sensitive simultaneous determination of one triterpene saponin, three monoterpene glycosides, and three lignans in rat plasma by solid‐phase extraction. The determination was accomplished within 7.50 min via gradient elution. The values of the lower limit of quantitation were validated at 0.08 ng/ml for tenuifolin, 0.8 ng/ml for lactiflorin, 1.828 ng/ml for albiflorin, 2 ng/ml for paeoniflorin, gomisin B, and gomisin D, 10 ng/ml for schisandrin. The results from validations of other methods were all acceptable (relative standard deviation ≤ 14.94%). This is the first report on the identification and pharmacokinetics studies of components in Xiaoer Huanglong Granule. Moreover, the pharmacokinetic behavior of lactiflorin was studied for the first time.
An Artificial Intelligence‐Based Cosmesis Evaluation for Temporomandibular Joint Reconstruction
Authors: Hidaka Takeaki , Tanaka Kentaro , Mori Hiroki 
Published: June 2022

ObjectiveManagement of the temporomandibular joint (TMJ) following condylar resection remains challenging in the field of mandibular reconstruction. A simple reconstruction of the TMJ with a contoured end of a fibular graft placed into the joint space is a potential option, but its efficacy is unknown partly because there are only few objective assessment systems for aesthetic outcome. This study aimed to develop an artificial intelligence (AI)‐based aesthetic outcome evaluation system for the simple TMJ reconstruction method and evaluate its functional outcomes.MethodsPatients who underwent segmental mandibular resection and reconstruction with fibular flaps at our institution between 2011 and 2020 were retrospectively reviewed. The mandibular asymmetry value was introduced as a primary aesthetic outcome measure, calculated for each patient's photograph using facial recognition AI. The outcomes of the simple TMJ reconstruction method were compared with those of cases in which the native condyle was preserved.ResultsTen patients underwent condylar resection followed by simple TMJ reconstruction, while the native condyle was preserved in 18 patients. No significant difference was observed in the postoperative mandibular asymmetry value between the two treatment groups. No significant differences were found in the functional outcomes of deglutition and speech.ConclusionThe AI‐based asymmetry evaluation system was useful as an aesthetic outcome measure in mandibular reconstruction. Simple TMJ reconstruction with a fibular end seemed to be a promising option, as there were no significant differences in both aesthetic and functional outcomes between this method and those cases in which the native condyle was preserved. Laryngoscope, 133:841–848, 2023
Validation of lipid profile measurement methods and establishment of reference values in a sub‐Saharan African population
Authors: Tang Tsana Cécile Danielle , Sadeu Wafeu Guy , Ama Moor Vicky Jocelyne , Edinga‐Melengue Bertille Elodie , Nkeck Jan René , Nguefack‐Tsague Georges 
Published: June 2022

AbstractValidated reference values and procedures are needed to ensure optimal diagnosis of dyslipidemia in sub‐Saharan Africa. We aimed to validate an analysis method and establish reference intervals of lipid profile parameters in Cameroonians using this method. On a cross‐sectional study conducted from November 2019 to August 2020 in Yaoundé, we have analyzed blood samples with Cobas® 6000. We subscribed to ASQUALAB's External Quality Assessments (EQA) and Outsourced Internal Quality Controls (IQC). Reproducibility, repeatability, correctness accuracy and uncertainty were evaluated using IQC. Consenting adult participants were conveniently sampled, excluding those with any condition that may affect lipid profile. Descriptive statistics were reported accordingly, agreement was assessed with Bland–Altman analysis, and reference intervals were defined according to CLSI and IFCC recommendations. The coefficients of variation for repeatability, reproducibility, and correctness bias ranged between 0.6% and 6%, with all values within the normal range. Expanded uncertainty of total cholesterol, HDL and triglycerides measurements were, respectively, 0.45, 0.24 and 0.18. We included 422 participants with a mean age of 30.2 (10.9) years and 248 (58.8%) females. Reference intervals for total cholesterol, HDL, triglycerides and LDL were, respectively, 2.94–6.02 mmol/L, 0.90–2.06 mmol/L, 0.35–1.36 mmol/L, 1.37–4.13 mmol/L. These intervals were similar between sex and ethnic groups, but lower in younger participants. Lipid profile measurement with Cobas® 6000 is a reliable and accurate analysis in our context. Specific reference intervals must be used in African population, with further studies need for different age subgroups.
Targeted copy number variant identification across the neurodegenerative disease spectrum
Authors: Dilliott Allison A. , Zhang Kristina K. , Wang Jian , Abrahao Agessandro , Binns Malcolm A. , Black Sandra E. , Borrie Michael , Dowlatshahi Dar , Finger Elizabeth , Fischer Corinne E. , Frank Andrew , Freedman Morris , Grimes David , Hassan Ayman , Jog Mandar , Kumar Sanjeev , Lang Anthony E. , Mandzia Jennifer , Masellis Mario , Pasternak Stephen H. , Pollock Bruce G. , Rajji Tarek K. , Rogaeva Ekaterina , Sahlas Demetrios J. , Saposnik Gustavo , Sato Christine , Seitz Dallas , Shoesmith Christen , Steeves Thomas D. L. , Swartz Richard H. , Tan Brian , Tang‐Wai David F. , Tartaglia Maria C. , Turnbull John , Zinman Lorne ,   ONDRI Investigators, Hegele Robert A. 
Published: June 2022

AbstractBackgroundAlthough genetic factors are known to contribute to neurodegenerative disease susceptibility, there remains a large amount of heritability unaccounted for across the diagnoses. Copy number variants (CNVs) contribute to these phenotypes, but their presence and influence on disease state remains relatively understudied.MethodsHere, we applied a depth of coverage approach to detect CNVs in 80 genes previously associated with neurodegenerative disease within participants of the Ontario Neurodegenerative Disease Research Initiative (n = 519).ResultsIn total, we identified and validated four CNVs in the cohort, including: (1) a heterozygous deletion of exon 5 in OPTN in an Alzheimer's disease participant; (2) a duplication of exons 1–5 in PARK7 in an amyotrophic lateral sclerosis participant; (3) a duplication of >3 Mb, which encompassed ABCC6, in a cerebrovascular disease (CVD) participant; and (4) a duplication of exons 7–11 in SAMHD1 in a mild cognitive impairment participant. We also identified 43 additional CNVs that may be candidates for future replication studies.ConclusionThe identification of the CNVs suggests a portion of the apparent missing heritability of the phenotypes may be due to these structural variants, and their assessment is imperative for a thorough understanding of the genetic spectrum of neurodegeneration.