bluuebunny/crossref_metadata_2025_split huggingface dataset:
Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia
Authors: Nanetti Lorenzo , Magri Stefania , Fichera Mario , Castaldo Anna , Nigri Anna , Pinardi Chiara , Mongelli Alessia , Sarro Lidia , Pareyson Davide , Grisoli Marina , Gellera Cinzia , Di Bella Daniela , Mariotti Caterina , Taroni Franco 
Published: February 2023

ABSTRACTBackground and ObjectivesSpinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by the concomitant presence of an intermediate‐length expansion in TATA‐box binding protein gene (TBP40–46) and a heterozygous pathogenic variant in the Stip1‐homologous and U‐Box containing protein 1 gene (STUB1). This SCATBP/STUB1 represents the first example of a cerebellar disorder in which digenic inheritance has been identified.ObjectivesWe studied a large cohort of patients with SCATBP/STUB1 with the aim of describing specific clinical and neuroimaging features of this distinctive genotype.MethodsIn this observational study, we recruited 65 affected and unaffected family members from 21 SCATBP/STUB1 families and from eight families with monogenic SCA17. Their characteristics and phenotypes were compared with those of 33 age‐matched controls.ResultsSCATBP/STUB1 patients had multi‐domain dementia with a more severe impairment in respect to patient carrying only fully expanded SCA17 alleles. Cerebellar volume and thickness of cerebellar cortex were reduced in SCATBP/STUB1 compared with SCA17 patients (P = 0.03; P = 0.008). Basal ganglia volumes were reduced in both patient groups, as compared with controls, whereas brainstem volumes were significantly reduced in SCATBP/STUB1, but not in SCA17 patients.ConclusionsThe identification of the complex SCATBP/STUB1 phenotype may impact on diagnosis and genetic counseling in the families with both hereditary and sporadic ataxia. The independent segregation of TBP and STUB1 alleles needs to be considered for recurrence risk and predictive genetic tests. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Broadband dual‐polarized dipole antenna array for 2G/3G/4G/5G base station
Authors: Li Yuan Jun , Li Jian Feng , Ye Liang Hua , Zeng Jing Tao , Huang Kun 
Published: February 2023

AbstractA broadband dual‐polarized antenna array with excellent impedance matching and stable radiation performance is proposed. The array comprises four folded‐dipole antenna elements. Two trapezoidal baluns are used to excite the folded‐dipole antenna to obtain good impedance matching and generate a ±45°‐polarized radiation pattern. To improve the impedance matching and achieve steady radiation performance, a square parasitic director is used and placed above the folded dipoles. The antenna element realizes a broad bandwidth of 76.9% (voltage standing wave ratio [VSWR] < 1.5 from 1.69 to 3.8 GHz) and high isolation of 28 dB. Then an antenna array comprised of four elements is designed. It is fed by two miniaturized 1‐to‐4 power divides. Several metal baffles are added between adjacent elements to reduce the mutual coupling. The array achieves a broad bandwidth of 78.4% (VSWR < 1.5 from 1.66 to 3.8 GHz), high isolation of 25 dB, stable half power beamwidth in the E‐plane within 65° ± 5°, and high gain within 12–15 dBi.
Synthesis and characterization of silver–zinc oxide nanocomposites for humidity sensing
Authors: Dare Enoch , Adanu‐Ogbole Blessing , Oladoyinbo Fatai , Makinde Festus , Uzosike Anthony Okechukwu 
Published: February 2023

AbstractThis study synthesizes hybrid of silver (Ag) and zinc oxide (ZnO) from their bulk salt to form Ag–ZnO nanocomposites for application as a humidity sensor. The Ag and ZnO nanoparticles are synthesized using chemical reduction method, followed by co‐mixing and calcination to yield the nanocomposite. The synthesized nanoparticles are characterized using SEM, TEM, XRD, and EDX to establish their morphological, structural and elemental composition. Sensing measurements were performed in a controlled proton‐type humidity chamber using saturated solutions of KOH and K2SO4 as dehumidifier and humidifier respectively. We sintered and subjected to direct current resistance (Ω) and sensitivity measurement as a function of relative humidity (RH). Crystallinity pattern showed reflections from face centered cubic Ag and ZnO nanoparticles. The XRD peaks of the Ag–ZnO were attributed to the heterostructure and it agrees with SEM images showing Ag–ZnO isotopic and Ag–ZnO anisotropic under varying conditions. The study finds that sensitivity increases with relative humidity at a 10%RH interval. Ag‐ZnO sensor exhibits a higher sensitivity of 687Hz/%RH in comparison to ZnO nanosensor which has a maximum sensitivity of 324Hz/%RH. The increase in sensitvity of Ag‐ZnO can be attributed to the high surface area of absorption present in porous ZnO shell and the electrical capability of Ag core in transducing the water vapour absorbed into electrical signals. The Ag‐ZnO and ZnO sensor exhibits a fast response and recovery time of 54s and 73s, low hysteresis of 3.76%RH and 5.2%RH respectively. The result of the variation in resistance against relative humidity (RH) reveals a greater significant factor (SF) of 5.25 for Ag‐ZnO and 1,88 for ZnO. The hybrid of Ag‐ZnO nanocomposites proves to be a better humidity sensor and can serve as replacement for many other materials for humidity sensor currently in circulation in the market.
Systematic Review and Meta‐analysis of the Influence of Genetic Variation on Ototoxicity in Platinum‐Based Chemotherapy
Authors: Hong Daniel Z. , Ong Thaned C. C. , Timbadia Dhayan P. , Tan Hui T. A. , Kwa Eunice D. , Chong Wan Q. , Goh Boon C. , Loh Woei S. , Loh Kwok S. , Tan Ene C. , Tay Joshua K. 
Published: February 2023

AbstractObjectiveThe objective of this meta‐analysis is to evaluate the impact of genetic polymorphisms on platinum‐based chemotherapy (PBC)‐induced ototoxicity.Data SourcesSystematic searches of PubMed, Embase, Cochrane, and Web of Science were conducted from the inception of the databases to May 31, 2022. Abstracts and presentations from conferences were also reviewed.Review MethodsFour investigators independently extracted data in adherence to the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines. Differences in the prevalence of PBC‐induced ototoxicity between reference and variant (i) genotypes and (ii) alleles were analyzed. The overall effect size was presented using the random‐effects model as an odds ratio (OR) with a 95% confidence interval (CI).ResultsFrom 32 included articles, 59 single nucleotide polymorphisms on 28 genes were identified, with 4406 total unique participants. For allele frequency analysis, the A allele in ACYP2 rs1872328 was positively associated with ototoxicity (OR: 2.61; 95% CI: 1.06‐6.43; n = 2518). Upon limiting to cisplatin use only, the T allele of COMT rs4646316 and COMT rs9332377 revealed significant results. For genotype frequency analysis, the CT/TT genotype in ERCC2 rs1799793 demonstrated an otoprotective effect (OR: 0.50; 95% CI: 0.27‐0.94; n = 176). Excluding studies using carboplatin or concomitant radiotherapy revealed significant effects with COMT rs4646316, GSTP1 rs1965, and XPC rs2228001. Major sources of variations between studies include differences in patient demographics, ototoxicity grading systems, and treatment protocols.ConclusionOur meta‐analysis presents polymorphisms that exert ototoxic or otoprotective effects in patients undergoing PBC. Importantly, several of these alleles are observed at high frequencies globally, highlighting the potential for polygenic screening and cumulative risk evaluation for personalized care.
Vertebral Anomalies in Microtia Patients at a Tertiary Pediatric Care Center
Authors: Alexander Nicole L. , McLennan Alexandra , Silva Rodrigo C. , Hosek Kathleen , Liu Yi‐Chun C. 
Published: February 2023

AbstractObjectiveMicrotia is a congenital condition known to be associated with vertebral anomalies and congenital syndromes, most prominently hemifacial microsomia. There is controversy, however, on whether to screen with spinal imaging. Additionally, microtia ear reconstruction utilizes rib harvesting that could potentially worsen pre‐existing vertebral and rib anomalies, specifically scoliosis. We report on the prevalence and characteristics of vertebral anomalies among microtia patients at a tertiary pediatric center.Study DesignRetrospective case review with literature review.SettingTertiary pediatric referral center.MethodsA review of 425 children with microtia was conducted, characterized as either syndromic or nonsyndromic. Data included demographics, spinal imaging performed, indications, anomalies detected, and microtia repair.ResultsAmong 425 microtia patients, 24.5% were syndromic with an average age of 9.7 years. Only 18.4% of all patients had spinal imaging performed (50% syndromic vs 8.1% nonsyndromic). Overall, 10.6% had a vertebral anomaly with a 57.7% detection rate (67.3% syndromic vs 38.5% nonsyndromic). The most common anomaly was scoliosis, with a prevalence of 7.8%. Fusion defects and rib deformities were the next most prominent. Microtia repair, most commonly with an autologous rib graft, was performed in 21.6% of the cohort. However, only 19.2% had spinal imaging and 16.7% with a vertebral anomaly.ConclusionChildren with microtia are at a greater risk of vertebral abnormalities. Scoliosis prevalence in isolated microtia is comparable to the general population (2%‐3%) but greatly increased with genetic syndromes. Screening for vertebral anomalies should be considered when planning microtia reconstructions, especially in the syndromic population.
Revisiting Age Criterion for Surgery in Asymptomatic Primary Hyperparathyroidism
Authors: Horowitz Gilad , Leshno Moshe , Izkhakov Elena , Halpern Daniel , Muhanna Nidal , Greenman Yona , Ungar Omer J. , Carmel‐Neidermann Narin N. , Kampel Liyona , Warshavsky Anton 
Published: February 2023

AbstractObjectiveTo revisit the current age criterion (50 years) for surgical candidacy in patients diagnosed with asymptomatic primary hyperparathyroidism (PHPT).Study DesignA predictive model relying on past publications using the electronic databases “PubMed,” “Embase,” “Medline,” and “Google Scholar.”SettingHypothetical large cohort.MethodsA Markov model was constructed, based on relevant literature, to compare 2 potential treatment algorithms for asymptomatic PHPT patients, parathyroidectomy (PTX), and observation. The various potential health states were characterized for the 2 treatment options and included potential surgical complications, end‐organ deterioration, and death. A 1‐way sensitivity analysis was performed to calculate the quality‐adjusted life year (QALY) gains of both strategies. A Monte‐Carlo simulation for 30,000 subjects was performed and cycled per annum.ResultsOn the basis of the model's assumptions, the QALY value for the PTX strategy was 19.17 versus 17.82 for the observation strategy. The incremental QALY gains for various ages according to the sensitivity analyses for PTX in comparison to observation were: 2.84 QALY for 40‐year‐old patients, 2.2 QALY for 50‐year‐old patients, 1.81 QALY for 55‐year‐old patients, 1.35 QALY for 60‐year‐old patients, and 0.86 QALY for 65‐year‐old patients. The incremental QALY is below 0.5 after the age of 75 years.ConclusionThis study found PTX to be advantageous for asymptomatic PHPT patients older than the current age criterion of 50 years. The calculated QALY gains support a surgical approach for medically fit patients in their 50s. The current guidelines for the surgical treatment of young asymptomatic PHPT patients should be revisited by the next steering committee.
Olfaction and Gustation in Children With Primary Ciliary Dyskinesia
Authors: Zawawi Faisal , Dell Sharon , Wolter Nikolaus E. , Papsin Blake C. , Propst Evan J. 
Published: February 2023

AbstractObjectivePrimary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder whereby abnormal cilia cause a wide array of respiratory tract manifestations including chronic rhinosinusitis. The purpose of this study was to determine whether olfaction and gustation are impaired in children with PCD.Study DesignCross‐sectional study.SettingTertiary pediatric academic hospital.MethodsChildren with confirmed PCD based on having at least 1 of 3 approved diagnostic criteria as per The American Thoracic Society guidelines were recruited from The PCD Clinic in our tertiary care pediatric hospital. Odor identification ability was tested using the Universal Sniff (U‐Sniff) test and taste threshold was measured using an electrogustometer. The main outcome of this study is to determine the incidence of olfactory dysfunction in children with PCD and investigate if there is an associated gustatory dysfunction.ResultsTwenty‐five children participated (14 male, 11 female), The median age was 10.8 years (range: 4.1‐17.9 years). Only 4/25 (16%) complained of olfactory dysfunction prior to testing. None of the patients complained of dysgeusia. However, 48% (12/25) scored less than 7 on the U‐Sniff, signifying hyposmia or anosmia. In contrast, scores obtained by electrogustometry were in the normal range. There was no correlation between performance on the U‐Sniff and electrogustometry testing.ConclusionOlfactory impairment in children with PCD is common but underrecognized by patients. This is not associated with abnormal gustation. Among other, this places children with PCD at an increased risk with respect to smelling a fire or detecting spoiled or poisonous food.
Predictive Value of Preresidency Academic Metrics on Resident Publication Potential
Authors: Yin Linda X. , Catalano Dominic J. , Bisco Susan E. , Lohse Christine M. , Carlson Matthew L. , Stokken Janalee K. 
Published: February 2023

AbstractObjectiveOtolaryngology residency is highly competitive, and applicant academic metrics are scrutinized. The predictive value of preresidency academic metrics on applicants’ future research productivity and career aspirations remains largely undefined.Study DesignRetrospective cohort studySettingAcademic otolaryngology department, 2014 to 2015.MethodsApplicant demographics, publication history, and United States Medical Licensing Examination (USMLE) scores were downloaded from Electronic Residency Application Service archives. Publications during residency were tallied from all PubMed articles indexed between July 1, 2015 and June 30, 2020. Postresidency career paths were examined by 2 investigators (D.J.C. and L.X.Y.) using Google searches with an emphasis on program websites, Doximity, and LinkedIn profiles. Associations with publication potential and postresidency positions were evaluated with Spearman rank correlation coefficients and Kruskal‐Wallis, Wilcoxon rank sum, and χ2 tests.ResultsOf 321 applicants, 226 (70%) matched, and 205 (64%) completed residency by June 2020. Matched residents published a median of 4 (range: 0‐41) manuscripts during residency. USMLE scores, Alpha Omega Alpha status, and the number of preresidency publications did not significantly correlate with publication potential during residency. The number of research experiences had a significant positive correlation with publications during residency (p < 0.001). Asian race (p = 0.002) and geographical region of residency (p < 0.001) also had significant associations with publication potential. Of the 205 graduates, 118 (58%) enrolled in fellowship. Age and female sex (74% vs 48%; p = 0.002) were the only factors significantly associated with pursuing a fellowship.ConclusionIn otolaryngology, not all preresidency academic metrics are associated with publication potential during residency or propensity for fellowship training. Programs should not use academic metrics alone to predict an applicant's future research productivity or career trajectory.
Effect of dynamic friction and static friction in finite element analysis of carbon fiber preform
Authors: Yoon Manseok , Kang Gu‐Hyeok 
Published: February 2023

AbstractThis paper aims to improve the accuracy of the finite element analysis for the preform shape transformation according to the difference in the type of carbon fiber and friction force. The carbon fiber type (Toray T700, Zoltek), the fiber direction (0°/90°, ± 45°), and the frictional force were measured, which occurred between the fiber and the mold and between the fiber and the fiber. A comparative experiment was conducted through actual preform production by designating it as a variable for element analysis. The analysis was conducted according to the difference between the static friction coefficient and the dynamic friction coefficient in the molding analysis. Within the range of the Coulomb equation, the shear angle changing was compared with the actual preform shape to show similar results.
A close look at polymer degree of crystallinity versus polymer crystalline quality
Authors: Venkatram Shruti , McCollum Jena , Stingelin Natalie , Brettmann Blair 
Published: February 2023

AbstractIn the broader polymer field, the term ‘crystallinity’ is often used rather loosely. However, increasingly, it becomes critical to clearly distinguish between degree of crystallinity, which provides the fractional amount of crystalline phase in a polymer, and the crystalline quality, which describes the perfection of the crystalline moieties that may form in a polymer. The reason is that these different structural features dictate important properties of plastic materials, including the mechanical properties of commodity polymers and the behavior of macromolecular ferroelectrics; they also determine which photophysical processes occur in semiconducting polymers. Hence, rigor needs to be applied when establishing structure/processing/property interrelations; and it should become a general practice that specific functions are clearly attributed to the degree of crystallinity, the crystalline quality or a combination of the two. In this perspective, in memoriam of Professor Dick Jones, a long‐time member of IUPAC's Polymer Division, we discuss the challenges of identifying—and distinguishing between—these important structural characteristics when using commonly applied measuring techniques and/or theoretical approaches. This task is often elaborate, as small changes in the chemical nature of the polymer and/or processing conditions selected can have drastic effects on both the crystalline quality and the degree of crystallinity, an issue that combined with the general ambiguity of data obtained with methodologies used to characterize polymer structures, theoretically or experimentally based. © 2023 The Authors. Polymer International published by John Wiley & Sons Ltd on behalf of Society of Industrial Chemistry.
In‐depth analysis of potential‐induced degradation in a commercial CIGS PV module
Authors: Yilmaz Pelin , de Wild Jessica , Aninat Rémi , Weber Thomas , Vermang Bart , Schmitz Jurriaan , Theelen Mirjam 
Published: February 2023

AbstractA post‐mortem analysis is conducted after potential‐induced degradation (PID) of a commercial copper‐indium‐gallium‐selenide (CIGS) photovoltaic module. After PID, the conversion efficiency of the total module decreased by 62%. Electroluminescence images of the module show that the edges of the modules were much more affected by the PID than the middle part of the module. Coring samples were prepared of the different areas and chemical compositional information of the various areas was combined with electrical characterisation, cell modelling and luminescence data to obtain an overall perspective on the root cause of degradation in these modules during high voltage stress. Consistent with earlier studies on cell level, the module analysis shows the occurrence of alkali migration. From current–voltage modelling, it was concluded that the degradation of the most affected areas is due to an increase in bulk and CdS/CIGS interface defects, likely induced by ion migration. Further degradation on the same samples occurred when they are taken out of the argon‐filled glovebox and stored under ambient conditions. Remarkably, the PID‐degraded areas show stronger degradation when left in ambient atmosphere, as well as a stronger Na redistribution. These new results show that ion migration not only causes the immediate degradation but also strongly affects the longer‐term stability of the cells in ambient atmosphere. This indicates that PID degradation makes CIGS devices more vulnerable to hermeticity problems, which are most prominent at the module edges.
Outpatient respiratory outcomes in children with BPD on supplemental oxygen
Authors: McGlynn Julianne R. , Aoyama Brianna C. , Martin Amanda , Collaco Joseph M. , McGrath‐Morrow Sharon A. 
Published: February 2023

AbstractIntroductionPreterm children with bronchopulmonary dysplasia (BPD) frequently require supplemental oxygen in the outpatient setting. In this study, we sought to determine patient characteristics and demographics associated with need for supplemental oxygen at initial hospital discharge, timing to supplemental oxygen liberation, and associations between level of supplemental oxygen and likelihood of respiratory symptoms and acute care usage in the outpatient setting.MethodsA retrospective analysis of subjects with BPD on supplemental oxygen (O2) was performed. Subjects were recruited from outpatient clinics at Johns Hopkins University and the Children's Hospital of Philadelphia between 2008 and 2021. Data were obtained by chart review and caregiver questionnaires.ResultsChildren with BPD receiving ≥1 L of O2 were more likely to have severe BPD, pulmonary hypertension, and be older at initial hospital discharge. Children discharged on higher levels of supplemental O2 were slower to wean to room air compared to lower O2 groups (p < 0.001). Additionally, weaning off supplemental O2 in the outpatient setting was delayed in children with gastrostomy tubes and those prescribed inhaled corticosteroids, on public insurance or with lower household incomes. Level of supplemental O2 at discharge did not influence outpatient acute care usage or respiratory symptoms.ConclusionBPD severity and level of supplemental oxygen use at discharge did not correlate with subsequent acute care usage or respiratory symptoms in children with BPD. Weaning of O2 however was significantly associated with socioeconomic status and respiratory medication use, contributing to the variability in O2 weaning in the outpatient setting.