bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
Authors: Duan Ying , Zheng Wanqi , Xia Yu , Zhang Huiwen , Liang Lili , Wang Ruifang , Yang Yi , Zhang Kaichuang , Lu Deyun , Sun Yuning , Han Lianshu , Yu Yongguo , Gu Xuefan , Sun Yu , Xiao Bing , Qiu Wenjuan 
Published: August 2023

BackgroundPrimary adrenal insufficiency (PAI) is a rare but life-threatening condition. Differential diagnosis of numerous causes of PAI requires a thorough understanding of the condition.MethodsTo describe the genetic composition and presentations of PAI. The following data were collected retrospectively from 111 patients with non-21OHD with defined genetic diagnoses: demographic information, onset age, clinical manifestations, laboratory findings and genetic results. Patients were divided into four groups based on the underlying pathogenesis: (1) impaired steroidogenesis, (2) adrenal hypoplasia, (3) resistance to adrenocorticotropic hormone (ACTH) and (4) adrenal destruction. The age of onset was compared within the groups.ResultsMutations in the following genes were identified:NR0B1(n=39),STAR(n=33),CYP11B1(n=12),ABCD1(n=8),CYP17A1(n=5),HSD3B2(n=4),POR(n=4),MRAP(n=2),MC2R(n=1),CYP11A1(n=1),LIPA(n=1) andSAMD9(n=1). Frequent clinical manifestations included hyperpigmentation (73.0%), dehydration (49.5%), vomiting (37.8%) and abnormal external genitalia (23.4%). Patients with adrenal hypoplasia typically presented manifestations earlier than those with adrenal destruction but later than those with impaired steroidogenesis (both p<0.01). The elevated ACTH (92.6%) and decreased cortisol (73.5%) were the most common laboratory findings. We generated a differential diagnosis flowchart for PAI using the following clinical features: 17-hydroxyprogesterone, very-long-chain fatty acid, external genitalia, hypertension and skeletal malformation. This flowchart identified 84.8% of patients with PAI before next-generation DNA sequencing.ConclusionsSTARandNR0B1were the most frequently mutated genes in patients with non-21OHD PAI. Age of onset and clinical characteristics were dependent on aetiology. Combining clinical features and molecular tests facilitates accurate diagnosis.
Colchicine in patients with heart failure and preserved left ventricular ejection fraction: rationale and design of a prospective, randomised, open-label, crossover clinical trial
Authors: Shchendrygina Anastasia , Rachina Svetlana , Cherkasova Natalia , Suvorov Aleksandr , Komarova Irina , Mukhina Nadezhda , Ananicheva Natalia , Gasanova Diana , Sitnikova Violetta , Koposova Aleksandra , Smirnova Julia , Moiseewa Elizaveta , Drogashevskaya Daria 
Published: August 2023

IntroductionSystemic low-grade inflammation is a fundamental pathophysiological mechanism of heart failure with preserved left ventricular ejection fraction (HFpEF). The efficacy of anti-inflammatory therapy in HFpEF is largely understudied. The aim of the study is to assess the anti-inflammatory effect of colchicine in HFpEF by looking at inflammatory biomarkers: high-sensitivity C reactive protein (hsCRP) and soluble suppression of tumorigenicity 2 (sST2).Methods and analysisThis is a single-centre, prospective, randomised controlled, open-label, blinded-endpoint crossover clinical trial of stable but symptomatic patients with HFpEF. Patients will be randomised to either colchicine treatment 0.5 mg two times per day or usual care for 12 weeks followed by a 2-week washout period and crossover to 12 weeks of treatment with the alternate therapy. The primary objective is to investigate if administration of colchicine compared with usual care reduces inflammation in patients with HFpEF measured by primary endpoint sST2 and co-primary endpoint hsCRP at baseline and 12-week follow-up. Secondary objective is to determine if treatment with colchicine influences N-terminal pro-B-type natriuretic peptide levels, left ventricular diastolic function and remodelling, right ventricular systolic function and left atrial volumetric characteristics. We are aiming to enrol a total of 40 participants. This trial will answer the question if colchicine treatment reduces systemic low-grade inflammation and influences left ventricular diastolic function and remodelling with patients with HFpEF.Ethics and disseminationEthical approval was obtained from the Ethics Committee of Sechenov University (reference: 03-22).Trial registration numberNCT05637398.
Exercise regimens for improved sleep quality in adult breast cancer survivors: systematic review and network meta-analysis
Authors: Hasan Faizul , Tu Yu-Kang , Lin Chia-Chin , Yuliana Lia Taurussia , Romadlon Debby Syahru , Chiu Hsiao-Yean 
Published: August 2023

ObjectiveThe relative efficacy of exercise regimens for improving sleep quality in adult breast cancer survivors remains unknown. This network meta-analysis aimed to compare the efficacy of various exercise regimens for improving sleep quality in adult breast cancer survivors.MethodsThis study searched four electronic databases for relevant literature from inception to 18 July 2023. Randomised controlled trials reporting the effects of exercise on sleep quality in adults with breast cancer were included. A random-effects network meta-analysis based on the frequentist framework was performed.ResultsIn total, 35 trials including 3374 breast cancer survivors were included. Compared with usual care, endurance training combined with resistance training significantly improved sleep quality (standardised mean differences (SMDs) = −0.97; 95% CI = −1.50 to −0.43; certainty of evidence=moderate) (p<0.05). Endurance training combined with resistance training (SMDs: −1.42; 95% CIs: −2.31 to −0.53; moderate) achieved superior sleep quality results compared with stretching exercises (p<0.05). The surface under the cumulative ranking curve analysis indicated that endurance training combined with resistance training was ranked as the top effective treatment among other exercise regimens for improving sleep quality in breast cancer survivors (71%).ConclusionsEndurance training combined with resistance training is effective in improving sleep quality in adult breast cancer survivors. Our results provide evidence that exercise can improve sleep quality in adult breast cancer survivors.
Impact of unilateral dual-brachial arteries on endothelial-dependent and endothelial-independent vasodilation: a case study
Authors: Courish Molly K. , Shivgulam Madeline E. , MacLeod Jessica R. , Kimmerly Derek S. , O'Brien Myles W. 
Published: August 2023

Brachial artery bifurcation has been documented in ∼5%–10% of cadaver models, but our understanding of arterial function in these rare cases is unknown. This case study examined vasodilatory responses between a right bifurcated (right superficial brachial artery, right deep brachial artery) versus a left nonbifurcated brachial artery in a 28-year-old healthy female. Vasodilatory functions were assessed via flow-mediated dilation and nitroglycerin-mediated dilation (0.4 mg sublingual spray) techniques. Bifurcation of the brachial artery promotes lower endothelial-dependent vasodilation and possibly reduced vascular smooth muscle responsiveness to nitric oxide. Take home message Our case study indicated that a bifurcated brachial artery exhibited worse vasodilatory responses relative to an intact contralateral artery.
CXCL10 Recruitment of γδ T Cells into the Hypoxic Bone Marrow Environment Leads to IL17 Expression and Multiple Myeloma Progression
Authors: Wang Jingya , Peng Ziyi , Guo Jing , Wang Yixuan , Wang Sheng , Jiang Hongmei , Wang Mengqi , Xie Ying , Li Xin , Hu Meilin , Xie Yangyang , Cheng Hao , Li Tiantian , Jia Linchuang , Song Jia , Wang Yafei , Hou Jian , Liu Zhiqiang 
Published: August 2023

Abstract
In multiple myeloma (MM), bone marrow stromal cells (BMSC) shape a unique niche within the bone marrow, promoting T-cell dysfunction and driving MM progression; however, the precise underlying mechanisms remain elusive. Here, we show that BMSC-mediated reprogramming of MM cells led to heightened production of CXCL10. CXCL10 orchestrated the recruitment of γδ T cells into the bone marrow, and this was observed in both the Vk*MYC and 5TGM1 mouse models of MM, as well as in patients experiencing refractory or relapsed MM. Furthermore, the dysfunctional γδ T cells in the MM bone marrow niche exhibited increased PD-1 expression and IL17 production. In the Vk*MYC mouse model, MM–associated bone lesions and mortality were markedly alleviated in Tcrd−/− mice, and MM disease progression could be rescued in these mice upon transplantation of γδ T cells expanded from wild-type mice, but not from Il17−/− mice. Mechanistically, the hypoxic microenvironment prevailing in the MM bone marrow niche stimulated the expression of steroid receptor coactivator 3 (SRC-3) in γδ T cells, which in turn interacted with the transcriptional factor RORγt, promoting Il17 transcription. Pharmacologic inhibition of SRC-3 utilizing SI-2 effectively suppressed Il17A expression in γδ T cells, leading to alleviation of MM progression in the murine models and enhancing the anti–multiple myeloma efficacy of bortezomib. Our results illuminated the bone marrow microenvironment's involvement in provoking γδ T-cell dysfunction throughout MM progression and suggest SRC-3 inhibition as a promising strategy to enhance the effectiveness of immunotherapies targeting γδ T cells.
Reading Braille by Touch Recruits Posterior Parietal Cortex
Authors: Liu Yun-Fei , Rapp Brenda , Bedny Marina 
Published: August 2023

Abstract
Blind readers use a tactile reading system consisting of raised dot arrays: braille/⠃⠗⠇. How do human brains implement reading by touch? The current study looked for signatures of reading-specific orthographic processes in braille, separate from low-level somatosensory responses and semantic processes. Of specific interest were responses in posterior parietal cortices (PPCs), because of their role in high-level tactile perception. Congenitally blind, proficient braille readers read real words and pseudowords by touch while undergoing fMRI. We leveraged the system of contractions in English braille, where one braille cell can represent multiple English print letters (e.g., “ing” ⠬, “one” ⠐⠕), making it possible to separate physical and orthographic word length. All words in the study consisted of four braille cells, but their corresponding Roman letter spellings varied from four to seven letters (e.g., “con-c-er-t” ⠒⠉⠻⠞. contracted: four cells; uncontracted: seven letters). We found that the bilateral supramarginal gyrus in the PPC increased its activity as the uncontracted word length increased. By contrast, in the hand region of primary somatosensory cortex (S1), activity increased as a function of a low-level somatosensory feature: dot-number per word. The PPC also showed greater response to pseudowords than real words and distinguished between real and pseudowords in multivariate-pattern analysis. Parieto-occipital, early visual and ventral occipito-temporal, as well as prefrontal cortices also showed sensitivity to the real-versus-pseudoword distinction. We conclude that PPC is involved in orthographic processing for braille, that is, braille character and word recognition, possibly because of braille's tactile modality.
Conditional Generation with a Question-Answering Blueprint
Authors: Narayan Shashi , Maynez Joshua , Amplayo Reinald Kim , Ganchev Kuzman , Louis Annie , Huot Fantine , Sandholm Anders , Das Dipanjan , Lapata Mirella 
Published: August 2023

AbstractThe ability to convey relevant and faithful information is critical for many tasks in conditional generation and yet remains elusive for neural seq-to-seq models whose outputs often reveal hallucinations and fail to correctly cover important details. In this work, we advocate planning as a useful intermediate representation for rendering conditional generation less opaque and more grounded. We propose a new conceptualization of text plans as a sequence of question-answer (QA) pairs and enhance existing datasets (e.g., for summarization) with a QA blueprint operating as a proxy for content selection (i.e., what to say) and planning (i.e., in what order). We obtain blueprints automatically by exploiting state-of-the-art question generation technology and convert input-output pairs into input-blueprint-output tuples. We develop Transformer-based models, each varying in how they incorporate the blueprint in the generated output (e.g., as a global plan or iteratively). Evaluation across metrics and datasets demonstrates that blueprint models are more factual than alternatives which do not resort to planning and allow tighter control of the generation output.
The Iranian Sound Change *w- > *γw- in the Indo-Iranian Borderlands and a New Etymology for Gāndhārī and Sanskrit guśura(ka)-
Authors: Schoubben Niels 
Published: August 2023

Abstract
It is generally accepted that the etymology of the Gāndhārī and Sanskrit official title guśura(ka)- has to be sought within the Iranian sphere, but the details remain debatable. In this article, I first give an overview of recently discovered evidence for an early sound change of *w- > *γw- in some Iranian dialects from the Indo-Iranian borderlands. On this basis, I then propose to derive guśura(ka)- from a dialect form such as *γwazurg / *γwuzurg / *γuzurg < *wazr̥ka- ‘strong’. Two by-products of this article are a new Bactrian etymology for the Gāndhārī personal name G̱aṇavhryaka and some notes on the etymology of the Gāndhārī title sturaka-*.
The Role of Local and Remote Processes for Wintertime Surface Energy Budget Extremes over Arctic Sea Ice
Authors: Papritz Lukas , Murto Sonja , Röthlisberger Matthias , Caballero Rodrigo , Messori Gabriele , Svensson Gunilla , Wernli Heini 
Published: August 2023

Abstract
Arctic warm extremes and anomalous sea ice melting have been linked to episodic injections of warm and moist air from midlatitudes, as well as airmass transformations inside the Arctic. However, the relative importance of remote and local processes for such events remains unclear. Here, we focus on events with extreme positive daily-mean surface energy budget (SEB) anomalies over Arctic sea ice in ERA5 data during extended winters (November–March during 1979–2020). Kinematic backward trajectories from the tropospheric column collocated with the SEB anomalies show that near-surface air is of Arctic origin, whereas air farther aloft is transported poleward from the midlatitudes and ascends. Despite the different origin of the air, the entire tropospheric column shows pronounced potential temperature anomalies (on the order of 10 K) building up along air-parcel trajectories over 2–4 days. Quantifying the contributions of horizontal and vertical transport as well as diabatic processes to the generation of these potential temperature anomalies emphasizes the relevance of horizontal advection across the climatological potential temperature gradient for the generation of the anomalies at all levels. Anomalies aloft are further enhanced by latent heating and those near the surface by subsidence, respectively. Surface heat fluxes over subpolar and polar oceans are key for warming and moistening the near-surface air of predominantly Arctic origin and maintaining a positive potential temperature anomaly, which due to its proximity to the surface unfolds the strongest impact on the SEB. This suggests that Arctic airmasses and their local transformations are crucial for generating the most extreme SEB anomalies.
Responses in the Subpolar North Atlantic in Two Climate Model Sensitivity Experiments with Increased Stratospheric Aerosols
Authors: Li Hui , Richter Jadwiga H. , Hu Aixue , Meehl Gerald A. , MacMartin Douglas 
Published: August 2023

Abstract
The subpolar North Atlantic (SPNA) shows contrasting responses in two sensitivity experiments with increased stratospheric aerosols, offering insight into the physical processes that may impact the Atlantic meridional overturning circulation (AMOC) in a warmer climate. In one, the upper ocean becomes warm and salty, but in the other it becomes cold and fresh. The changes are accompanied by diverging AMOC responses. The first experiment strengthens the AMOC, opposing the weakening trend in the reference simulation. The second experiment shows a much smaller impact. Both simulations use the Community Earth System Model with the Whole Atmosphere Community Climate Model component (CESM-WACCM) but differ in model versions and stratospheric aerosol specifications. Despite both experiments using similar approaches to increase stratospheric aerosols to counteract the rising global temperature, the contrasting SPNA and AMOC responses indicate a considerable dependency on model physics, climate states, and model responses to forcings. This study focuses on examining the physical processes involved with the impact of stratospheric aerosols on the SPNA salinity changes and their potential connections with the AMOC and the Arctic. We find that in both cases, increased stratospheric aerosols act to enhance the SPNA upper-ocean salinity by reducing freshwater export from the Arctic, which is closely tied to the Arctic sea ice changes. The impact on AMOC is primarily through the thermal component of the surface buoyancy fluxes, with negligible contributions from the freshwater component. These experiments shed light on the physical processes that dictate the important connections between the SPNA, the Arctic, the AMOC, and their subsequent feedbacks on the climate system.
Objectively Assessing Characteristics of Mesoscale Convective Organization in an Operational Convection-Permitting Model
Authors: Short Ewan , Lane Todd P. 
Published: August 2023

Abstract
The realism of convective organization in operational convection-permitting model simulations is objectively assessed, with a particular focus on the mesoscale aspects, such as convective mode. A tracking and classification algorithm is applied to observed radar reflectivity and simulated radar reflectivity from the operational ACCESS-C convection-permitting forecast domain over northern Australia between October 2020 and May 2022, and the characteristics of real and simulated convective organization are compared. Mesoscale convective systems from the operational forecast model are approximately twice as likely to be oriented parallel to the ambient wind and ambient wind shear than those observed by radar, indicating a bias toward the “training line” systems typically associated with more extreme rainfall. During highly humid active monsoon conditions, simulated convective systems have larger ground-relative speeds than systems observed in radar. Although there is less than 5% difference between the ratios of simulated and observed trailing, leading and parallel stratiform system observations, significant differences exist in other wind shear–based classifications. For instance, in absolute terms, simulated systems are 10%–35% less likely to be upshear tilted, and 15%–30% less likely to be downshear propagating than observed systems, suggesting errors in simulated cold pool characteristics.

Significance Statement
Remarkable progress has been made simulating thunderstorms in operational weather forecasting computer models. While some details of individual storm clouds may be unrealistic, how these storm clouds self-organize, i.e., cluster and regenerate, can be explicitly simulated, with this organization often appearing realistic. However, assessing the realism of this organization in an objective, systematic way has proven challenging. Here we assess organized convection in Australia’s current high-resolution weather prediction model. In some respects, simulated storm clouds organize realistically. High-altitude icy cloud mostly trails behind groups of storm clouds in both simulations and reality. In other respects, organization is unrealistic. Simulated storm clouds are twice as likely to orient along the mean wind direction than in reality, likely contributing to extreme rainfall biases.
Community Health Worker Intervention for Newborns Not Passing Initial Universal Hearing Screening
Authors: Leong Stephen , Medina Kristy , Peretz Patricia J. , Olmeda-Jenkins Maria I. , Oliver Melissa A. , Kuhlmey Megan , Bernstein Stacey A. , Ferrer Fajah , Matiz Luz Adriana , Lalwani Anil K. 
Published: August 2023

Background: Universal newborn hearing screening (UNHS) is effective in identifying newborns with possible hearing loss (HL). Outpatient follow-up for newborns referred after hospital-based screening remains a potential area of improvement. In this study, we evaluate the efficacy of a community health worker (CHW) intervention in promoting adherence to outpatient rescreening for newborns referred after initial UNHS. Methods: A mixed prospective-retrospective cohort study was performed to evaluate a CHW intervention at an academic medical center. Caregivers of referred newborns were contacted by CHWs prior to discharge and educated about HL and the importance of follow-up screening. The CHW outreach intervention was performed for 297 referred newborns between May 2020 and June 2021 and compared to a cohort of 238 newborns without the CHW intervention between March 2019 and June 2021. Statistical analyses were conducted using 2 × 2 Chi-square tests, two-tailed unpaired t-tests, multinomial logistic regression, and multiple linear regression. Results: In the intervention group, 236 of 297 newborns (79.5%) completed their outpatient follow-up rescreening; in the comparison group, 170 of 238 newborns (71.4%) completed their follow-up rescreening ( P = .031, OR = 1.55 with regression P = .04). In the intervention group, the average time to follow-up was 13.4 days versus 12.5 days for the comparison group ( P = .449, multiple R2 = .02 with P = .78). Conclusions: CHW outreach intervention may increase adherence to outpatient follow-up rescreening for newborns referred after initial, hospital-based UNHS. Expansion of nursery teams to include CHWs may thus improve completion of recommended follow-up hearing screens.
State Machinery Building and Economic Transition: Lessons from the German Unification
Authors: Nakamura Yasushi 
Published: August 2023

East Germany was deficient in the human resources to establish a new state machinery that was equal to that of West Germany. The solution was transferring knowledge and know-hows from West to East Germany through dispatching West German personnel, retraining and building informal personal networks. East Germany could establish the new state machinery quickly, although copying West Germany left little room to build a better state machinery, and the sudden change might undermine East German personnel’s efforts to increase their capacities. The German experience suggests that the other ex-socialist countries that could not expect a fast and extensive transfer of knowledge and know-how would need a long period measured by the unit of decade or generation to establish the new state machinery. Those countries needed a commonly understood goal of systemic transformation and public support for it over a long period. JEL: H10, N44, O15, P20, P37