bluuebunny/crossref_metadata_2025_split huggingface dataset:
Preferential Maternal Transmission of STX16-GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion
Authors: Kiuchi Zentaro , Reyes Monica , Jüppner Harald 
Published: November 2020

ABSTRACT
Preferential transmission of a genetic mutation to the next generation, referred to as transmission ratio distortion (TRD), is well established for several dominant disorders, but underlying mechanisms remain undefined. Recently, TRD was reported for patients affected by pseudohypoparathyroidism type Ia or pseudopseudohypoparathyroidism. To determine whether TRD is observed also for autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP1B), we analyzed kindreds with the frequent 3-kb STX16 deletion or other STX16/GNAS mutations. If inherited from a female, these genetic defects lead to loss-of-methylation at exon A/B alone or at all three differentially methylated regions (DMR), resulting in parathyroid hormone (PTH)-resistant hypocalcemia and hyperphosphatemia and possibly resistance to other hormones. In total, we investigated 212 children born to 80 females who are unaffected carriers of a STX16/GNAS mutation (n = 47) or affected by PHP1B (n = 33). Of these offspring, 134 (63.2%) had inherited the genetic defect (p = .00012). TRD was indistinguishable for mothers with a STX16/GNAS mutation on their paternal (unaffected carriers) or maternal allele (affected). The mechanisms favoring transmission of the mutant allele remain undefined but are likely to include abnormalities in oocyte maturation. Search for mutations in available descendants of males revealed marginally significant evidence for TRD (p = .038), but these analyses are less reliable because many more offspring of males than females with a STX16/GNAS mutation were lost to follow-up (31 of 98 versus 6 of 218). This difference in follow-up is probably related to the fact that inheritance of a mutation from a male does not have clinical implications, whereas inheritance from an affected or unaffected female results in PHP1B. Lastly, affected PHP1B females had fewer descendants than unaffected carriers, but it remains unclear whether abnormal oocyte development or impaired actions of reproductive hormones are responsible. Our findings highlight previously not recognized aspects of AD-PHP1B that are likely to have implications for genetic testing and counseling. © 2020 American Society for Bone and Mineral Research (ASBMR).
Analysis of laboratory parameters for optimal autologous peripheral blood stem cell collection from lymphoma and myeloma patients
Authors: Kong Jung Hee , Hu Youmi , Kong Sun‐Young , Lee Se‐Na , Eom Hyeon‐Seok , Lee Hyewon , Lee Eunyoung , Shim Hyoeun 
Published: November 2020

AbstractBackgroundPeripheral blood stem cell (PBSC) collection is important for successful hematopoietic stem cell transplantation. This study aimed to investigate the laboratory parameters associated with the optimal timing of autologous PBSC collection from lymphoma and multiple myeloma patients.MethodsWe retrospectively evaluated data from 1105 PBSC apheresis procedures performed on 379 adult patients at the National Cancer Center between June 2005 and December 2019. Laboratory parameters, including cutoff values for the number of hematopoietic progenitor cells (HPCs) and circulating CD34+ cells, were analyzed to determine their association with CD34+ cell yield.ResultsThe pre‐apheresis HPC and CD34+ cell count were statistically significant variables associated with harvested CD34+ cell in lymphoma and MM patients. The optimal cutoff values were 18 × 106/L for pre‐HPC count (66.8% sensitivity, 66.4% specificity) and 11/μL for pre‐CD34+ cell count (85.8% sensitivity, 87.2% specificity), to achieve CD34+ cell yields ≥ 1.0 × 106/kg for each apheresis procedure. Moreover, the optimal cutoff values were 23 × 106/L for pre‐HPC count (71.0% sensitivity, 69.0% specificity) and 18/μL for pre‐CD34+ cell count (87.5% sensitivity, 86.3% specificity) to achieve CD34+ cell yields ≥ 2.0 × 106/kg for each apheresis procedure.ConclusionHPC count is a potential surrogate marker for monitoring the starting time for PBSC collection. Applying cutoff values for the number of HPC and CD34+ cells may be clinically useful for optimizing the timing of PBSC collection.
miR‐30b‐5p up‐regulation related to the dismal prognosis for patients with renal cell cancer
Authors: Zhang Chunduo , Pan Xiang , Peng Xiqi , Liu Kaihao , Wang Jingyao , Zhao Liwen , Chen Xuan , Huang Guocheng , Li Hang , Ye Jing , Lai Yongqing 
Published: November 2020

AbstractThe diagnosis of renal cell carcinoma (RCC) is often made late since there is no early symptom, which thus results in dismal patient prognosis. As a result, new biomarkers are urgently needed and efforts should be made to identify their functions in predicting RCC prognosis. microRNAs (miRNAs) are a class of small noncoding RNAs that are about 20‐22 nucleotides in length, and they have been demonstrated to function as prognostic markers in numerous tumors. This study aimed to assess the role of miR‐30b‐5p in predicting the prognosis of RCC postoperatively. In this study, RNA was extracted from 284 formalin‐fixed and paraffin‐embedded kidney cancer tissue samples. After cDNA synthesis, real‐time quantitative PCR (RT‐qPCR) was adopted for detecting the relative miR‐30b‐5p level. Then, the Kaplan‐Meier method, Cox regression analysis, and the receiver operating characteristic curve analysis were applied in analyzing the miR‐30b‐5p effect on the prognosis for patients. Our findings indicated that, following adjustment for age, gender, tumor stage, and tumor size, patients with low miR‐30b‐5p expression had remarkably longer overall survival. Thus, the miR‐30b‐5p level might be related to RCC prognosis.
Novel silver(I)N‐heterocyclic carbene complexes bearing 2‐(4‐hydroxyphenyl)ethyl group: Synthesis, characterization, and enzyme inhibition properties
Authors: Behçet Ayten , Aktaş Aydın , Gök Yetkin , Kaya Rüya , Taslimi Parham , Gülçin İlhami 
Published: November 2020

AbstractHerein, novel silver‐based N‐heterocyclic carbene (NHC) complexes bearing 2‐(4‐hydroxyphenyl)ethyl group were synthesized. Novel Ag(I)NHC complexes were synthesized from the 2‐(4‐hydroxyphenyl)ethyl‐substituted benzimidazolium salts and silver oxide via in situ deprotonation method. The successful formation of all Ag(I)NHC complexes was proved by using 1H NMR, 13C NMR, FTIR spectroscopy, and elemental analysis techniques. In addition, their inhibitory effects have been investigated of these substances on acetylcholinesterase (AChE), α‐glycosidase (α‐Gly), human carbonic anhydrase I (hCA I), and human carbonic anhydrase II (hCA II) enzymes. It has been seen that all compounds have a better ability to inhibit compared with existing tried inhibitors. Among these, the best inhibitor against AChE enzyme is 1g (Ki : 9.54 ± 0.98 μM and IC50 : 17.40), and against α‐Gly, 1c showed the highest effect (Ki 3.09 ± 0.36 μM and IC50 7.91). The best inhibitor against hCA I and hCA II enzymes are 1c and 1g compounds. For hCA I and hCA II, IC50 values were calculated as 17.85 and 9.06 μM and Ki values were measured as 5.45 ± 2.02 and 8.99 ± 2.02 μM, respectively.
Incentives conditioned on tenofovir levels to support PrEP adherence among young South African women: a randomized trial
Authors: Celum Connie L , Gill Katherine , Morton Jennifer F , Stein Gabrielle , Myers Laura , Thomas Katherine K , McConnell Margaret , van der Straten Ariane , Baeten Jared M , Duyver Menna , Mendel Eve , Naidoo Keshani , Dallimore Jacqui , Wiesner Lubbe , Bekker Linda‐Gail 
Published: November 2020

AbstractIntroductionHIV incidence remains high among African adolescent girls and young women (AGYW), who would benefit from pre‐exposure prophylaxis (PrEP). Strategies to increase PrEP adherence and persistence need to be evaluated in African AGY, including incentives conditional on high adherence.MethodsThe 3Ps for Prevention Study was a 12‐month prospective cohort of 200 women ages 16 to 25 initiating PrEP in South Africa from 2017 to 2018. Participants received retrospective feedback about drug levels at Months 1, 2 and 3; half was randomized to receive a 200 Rand shopping voucher ($13 US) at Months 2, 3 and 4, conditioned on high intracellular tenofovir diphosphate (TFV‐DP) levels in dried blood spots (≥500 fmol/punch at Month 1, ≥700 fmol/punch at Months 2 and 3). The primary analysis was intention‐to‐treat, comparing the proportion with high PrEP adherence (≥700 fmol/punch) at Month 3 by randomized group, based on 100% efficacy among men who have sex with men.ResultsMedian age of the 200 women was 19 years (interquartile range [IQR] 17, 21); 86% had a primary sexual partner. At Month 3, the mean TFV‐DP level was 822 fmol/punch (SD 522) in the incentive group and 689 fmol/punch (SD 546) in the control group (p = 0.11). Forty‐five (56%) of 85 women in the incentive group and 35 (41%) of 85 women in the control group had TFV‐DP levels ≥700 fmol/punch (RR 1.35; 95% CI 0.98, 1.86; p = 0.067), which declined to 8% and 5% in the incentive and control groups at Month 12 (no significant difference by arm). 44% refilled PrEP without gaps, 14% had a gap of ≥3 weeks in coverage subsequently restarted PrEP and 54% accepted at the final dispensing visit at Month 9. No new HIV infections were observed after PrEP initiation.ConclusionsAmong South African AGYW initiating PrEP, drug levels indicated high PrEP adherence in almost half of women at Month 3, with a non‐statistically significant higher proportion with high adherence among those in the incentive group. Over half persisted with the 12‐month PrEP programme although high adherence declined after Month 3. Strategies to support PrEP adherence and persistence and longer‐acting PrEP formulations are needed.
The Interaction of Glymes with Surfactant Micelles
Authors: Petropolis Nicholas P. , Petropolis Harrison M. , MacNeil Nicole E. , Doucet Taylor M. , Marangoni D. Gerrard 
Published: November 2020

AbstractThe critical micelle concentrations (CMC) values and counterion dissociation (α values) have been determined for a number of mixed micellar systems consisting of two typical ionic surfactants and glycol ethers (glymes) as cosurfactants, namely diethylene glycol dimethyl ether, diethylene glycol diethyl ether, triethylene glycol dimethyl ether, and tetraethylene glycol dimethyl ether. Conductance experiments were used to determine the CMC and α values of the mixed micelles as a function of glyme concentration in the aqueous mixed solvent. Favorable interactions between sodium dodecyl sulfate micelles and glyme cosurfactants were deduced from the decreases in the CMC values and the large increase in the α values of these systems as a function of increasing glyme concentration in the mixed solvents. In contrast to the anionic surfactant/glyme systems, in general, there appeared to be little favorable interactions between the surfactant and glymes when micelles of the cationic surfactant dodecyltrimethylammonium bromide were formed in water/glyme solvent systems containing an increasing amount of the glymes. The interaction of glymes with the surfactant micelles was examined closely via 13C nuclear magnetic resonance (NMR) chemical shifts for both surfactant and glyme carbons; these chemical shifts changes were interpreted in terms of the distribution and the localization of the glymes in the aggregates. Finally, partition constants, determined from two‐dimensional diffusion‐oriented spectroscopy (2D‐DOSY) experiments, were used to calculate thermodynamic quantities of transfer of the glymes between the bulk phase and the self‐assembled aggregates. All these results are interpreted in terms of the key contributions that both the glyme ethoxylated groups and alkyl endgroups make to the hydrophobic interactions.
Levodopa‐Induced Dyskinesia Are Mediated by Cortical Gamma Oscillations in Experimental Parkinsonism
Authors: Güttler Christopher , Altschüler Jennifer , Tanev Kaloyan , Böckmann Saskia , Haumesser Jens Kersten , Nikulin Vadim V. , Kühn Andrea A. , van Riesen Christoph 
Published: November 2020

ABSTRACTBackgroundLevodopa is the most efficacious drug in the symptomatic therapy of motor symptoms in Parkinson's disease (PD); however, long‐term treatment is often complicated by troublesome levodopa‐induced dyskinesia (LID). Recent evidence suggests that LID might be related to increased cortical gamma oscillations.ObjectiveThe objective of this study was to test the hypothesis that cortical high‐gamma network activity relates to LID in the 6‐hydroxydopamine model and to identify new biomarkers for adaptive deep brain stimulation (DBS) therapy in PD.MethodsWe recorded and analyzed primary motor cortex (M1) electrocorticogram data and motor behavior in freely moving 6‐OHDA lesioned rats before and during a daily treatment with levodopa for 3 weeks. The results were correlated with the abnormal involuntary movement score (AIMS) and used for generalized linear modeling (GLM).ResultsLevodopa reverted motor impairment, suppressed beta activity, and, with repeated administration, led to a progressive enhancement of LID. Concurrently, we observed a highly significant stepwise amplitude increase in finely tuned gamma (FTG) activity and gamma centroid frequency. Whereas AIMS and FTG reached their maximum after the 4th injection and remained on a stable plateau thereafter, the centroid frequency of the FTG power continued to increase thereafter. Among the analyzed gamma activity parameters, the fraction of longest gamma bursts showed the strongest correlation with AIMS. Using a GLM, it was possible to accurately predict AIMS from cortical recordings.ConclusionsFTG activity is tightly linked to LID and should be studied as a biomarker for adaptive DBS. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society
A 28 GHz GaAs front‐end IC with single positive supply voltage
Authors: Park Jeongsoo , Kim Jeong‐Geun 
Published: November 2020

AbstractThis paper presents 28 GHz GaAs front‐end IC for 5G beamforming systems with single positive supply voltage. A 28 GHz front‐end IC consists of a 3‐stage power amplifier, a 3‐stage low noise amplifier and two reflective type single pole double throw switches in 0.15 μm enhancement‐mode (E‐mode) GaAs pHEMT technology. The proposed 28 GHz front‐end IC is controlled only with single positive supply voltage. The measured front‐end IC Tx mode gain and Rx mode gain are 16.3 dB and 16.8 dB at 28 GHz, respectively. The achieved output P1dB and saturation power (PSAT) in Tx mode are 18 dBm and 21 dBm, respectively. The achieved input P1dB and noise figure in Rx mode are −8 dBm and 3 dB, respectively. The 28 GHz GaAs front‐end IC consumes DC current of 216 mA in Tx mode at 4 V supply voltage and 20 mA in Rx mode at 2.5 V supply voltage. The proposed 28 GHz front‐end IC chip size is 2.5 x 2.2 mm2.
Comparison of hyperpolarized 13C and non‐hyperpolarized deuterium MRI approaches for imaging cerebral glucose metabolism at 4.7 T
Authors: von Morze Cornelius , Engelbach John A. , Blazey Tyler , Quirk James D. , Reed Galen D. , Ippolito Joseph E. , Garbow Joel R. 
Published: November 2020

PurposeThe purpose of this study was to directly compare two isotopic metabolic imaging approaches, hyperpolarized (HP) 13C MRI and deuterium metabolic imaging (DMI), for imaging specific closely related segments of cerebral glucose metabolism at 4.7 T.MethodsComparative HP‐13C and DMI neuroimaging experiments were conducted consecutively in normal rats during the same scanning session. Localized conversions of [1‐13C]pyruvate and [6,6‐2H2]glucose to their respective downstream metabolic products were measured by spectroscopic imaging, using an identical 2D‐CSI sequence with parameters optimized for the respective experiments. To facilitate direct comparison, a pair of substantially equivalent 2.5‐cm double‐tuned X/1H RF surface coils was developed. For improved results, multidimensional low‐rank reconstruction was applied to denoise the raw DMI data.ResultsLocalized conversion of HP [1‐13C]pyruvate to [1‐13C]lactate, and [6,6‐2H2]glucose to [3,3‐2H2]lactate and Glx‐d (glutamate and glutamine), was detected in rat brain by spectroscopic imaging at 4.7 T. The SNR and spatial resolution of HP‐13C MRI was superior to DMI but limited to a short time window, whereas the lengthy DMI acquisition yielded maps of not only lactate, but also Glx production, albeit with relatively poor spectral discrimination between metabolites at this field strength. Across the individual rats, there was an apparent inverse correlation between cerebral production of HP [1‐13C]lactate and Glx‐d, along with a trend toward increased [3,3‐2H2]lactate.ConclusionThe HP‐13C MRI and DMI methods are both feasible at 4.7 T and have significant potential for metabolic imaging of specific segments of glucose metabolism.
Challenges in diagnosing coexisting ocular myasthenia gravis and thyroid eye disease
Authors: Claytor Benjamin , Li Yuebing 
Published: November 2020

AbstractOcular myasthenia gravis (OMG) and thyroid eye disease are two autoimmune conditions that have several overlapping clinical features, and these coexist with a small but not insignificant frequency. Segregating these diagnoses is typically straightforward, but, when the two diseases co‐occur in the same individual, making a diagnosis of OMG can be very challenging. In this review we address what is known about the coexistence of OMG and thyroid eye disease and we highlight the clinical features that are suggestive of overlapping conditions. We also describe the major testing approaches used in the diagnosis of these two entities, with special emphasis on the potential shortcomings of individual tests in patients with overlapping disease. In patients with thyroid eye disease, securing a diagnosis of OMG may not be possible on the basis of a single positive test. A multimodal approach using clinical, serologic, imaging, and electrodiagnostic data, is typically required.
ASnX3—Better than Pb‐based Perovskite
Authors: Bai Dongliang , Wang Haoxu , Bai Yang , Najar Adel , Saleh Na'il , Wang Lianzhou , Liu Shengzhong Frank 
Published: November 2020

AbstractOrganic‐inorganic halide perovskite solar cells (PSCs) have drawn tremendous attention as their power conversion efficiency (PCE) has soared to 25.2%. Yet the most efficient halide perovskite materials all contain the toxic element lead (Pb). The search for an alternative element is a crucial research direction. Among all candidates, tin (Sn) appears to be the most promising one for its nontoxicity and physical similarity to lead (Pb). Herein, we review and summarize recent advancements in this emerging research area of Sn‐based perovskites. First, we discuss the photophysical dynamics of the Sn‐based perovskites and the relatively high efficiency of corresponding PSCs and other applications. Then, the attention is focused on the fabrication process and methods to improve the performance of Sn‐based photovoltaic devices. Despite the fact that the stabilities of the materials and related devices are far from perfect, the Sn‐based perovskites are still the best candidates with vast potential among all the Pb‐free perovskites for PSC application.
A Cα finite difference method for the Caputo time‐fractional diffusion equation
Authors: Davis Wesley , Noren Richard , Shi Ke 
Published: November 2020

AbstractWe begin with a treatment of the Caputo time‐fractional diffusion equation, by using the Laplace transform, to obtain a Volterra integro‐differential equation. We derive and utilize a numerical scheme that is derived in parallel to the L1‐method for the time variable and a standard fourth‐order approximation in the spatial variable. The main method derived in this article has a rate of convergence of O(kα + h4) for u(x, t) ∈ Cα([0, T]; C6(Ω)), 0 < α < 1, which improves previous regularity assumptions that require C2[0, T] regularity in the time variable. We also present a novel alternative method for a first‐order approximation in time, under a regularity assumption of u(x, t) ∈ C1([0, T]; C6(Ω)), while exhibiting order of convergence slightly more than O(k) in time. This allows for a much wider class of functions to be analyzed which was previously not possible under the L1‐method. We present numerical examples demonstrating these results and discuss future improvements and implications by using these techniques.
Prevalence of depression in a cohort of 400 patients with pancreatic neoplasm attending day hospital for major surgery: Role on depression of psychosocial functioning and clinical factors
Authors: Del Piccolo Lidia , Marinelli Veronica , Mazzi Maria Angela , Danzi Olivia Purnima , Bonamini Deborah , Secchettin Erica , Tuveri Massimiliano , Bassi Claudio , Rimondini Michela , Salvia Roberto 
Published: November 2020

AbstractObjective(1) To determine the prevalence and type of depressive symptoms at day‐hospital clinical evaluation, before undergoing major surgery in patients diagnosed with pancreatic neoplasm. (2) To analyze the association between depression and sociodemographic, clinical, and psychosocial variables. (3) To understand how coping strategies, perceived social support, and self‐efficacy might affect depressive symptoms in this cohort of patients.MethodsSecondary data analysis collected during the baseline phase of a randomized controlled trial performed at the Pancreas Institute of the University Hospital of Verona, Italy, between June 2017 and June 2018.Results18.5% of pancreatic patients had a PHQ‐9 score ≥10 (cut‐off). Depressed patients were basically more often female (p = 0.07), younger (p = 0.06), and married/with a partner (p = 0.02). Depression was associated to high trait anxiety (p < 0.01), the use of anxiolytics (p < 0.01), sleep‐inducing drugs (p < 0.01), and painkillers (p < 0.01). Among psychosocial variables, depressed patients showed lower perceived self‐efficacy (p < 0.01) and family and friends’ social support (p < 0.01) and used significantly more often dysfunctional coping strategies (p < 0.01), compared to nondepressed. A logistic multivariate model using psychosocial variables as explanatory and depression as dependent was calculated and post hoc analyses were conducted to describe the contribution of each psychosocial variable on depression.ConclusionsOur study advocates the need for screening for distress and depression in cancer surgery units and recommends to strengthen patients' adaptive coping, social support, and sense of effectiveness in facing the challenges related to the medical condition and treatment process.