bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel Alzheimer’s disease genes and epistasis identified using machine learning GWAS platform
Authors: Lundberg Mischa , Sng Letitia M. F. , Szul Piotr , Dunne Rob , Bayat Arash , Burnham Samantha C. , Bauer Denis C. , Twine Natalie A. 
Published: October 2023

AbstractAlzheimer’s disease (AD) is a complex genetic disease, and variants identified through genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has been proposed as a major contributor to this ‘missing heritability’, however, many current methods are limited to only modelling additive effects. We use VariantSpark, a machine learning approach to GWAS, and BitEpi, a tool for epistasis detection, to identify AD associated variants and interactions across two independent cohorts, ADNI and UK Biobank. By incorporating significant epistatic interactions, we captured 10.41% more phenotypic variance than logistic regression (LR). We validate the well-established AD loci, APOE, and identify two novel genome-wide significant AD associated loci in both cohorts, SH3BP4 and SASH1, which are also in significant epistatic interactions with APOE. We show that the SH3BP4 SNP has a modulating effect on the known pathogenic APOE SNP, demonstrating a possible protective mechanism against AD. SASH1 is involved in a triplet interaction with pathogenic APOE SNP and ACOT11, where the SASH1 SNP lowered the pathogenic interaction effect between ACOT11 and APOE. Finally, we demonstrate that VariantSpark detects disease associations with 80% fewer controls than LR, unlocking discoveries in well annotated but smaller cohorts.
The L-proline modified Zr-based MOF (Basu-proline) catalyst for the one‐pot synthesis of dihydropyrano[3,2-c]chromenes
Authors: Benrashid Amin , Habibi Davood , Beiranvand Masoumeh , Gilan Maryam Mahmoudiani 
Published: October 2023

AbstractA novel, reusable, and efficient L-proline-modified Zr-based metal–organic framework (Basu-proline) was designed, synthesized, and characterized by Fourier Transform-Infrared spectroscopy (FT-IR), Energy-Dispersive X-ray spectroscopy (EDX), elemental mapping, Field Emission Scanning Electron Microscopy (FE-SEM), X-ray Diffraction analysis (XRD), Thermo-Gravimetric-Differential Thermal Analysis (TGA-DTA), and N2 adsorption–desorption isotherms. Then, its catalytic performance was assessed in the synthesis of dihydropyrano[3,2-c]chromenes via the one-pot, three‐component tandem condensation reaction of 4-hydroxycoumarin, aromatic aldehydes and malononitrile. The Basu-proline catalyst exhibited a better efficiency than some reported protocols regarding higher yields, lower reaction times, and simple separation.
Withaferin-A attenuates diabetes mellitus induced male reproductive dysfunction mediated by ERα in brain and testes of Swiss albino mice
Authors: Baghel Kalpana , Azam Zaffar , Srivastava Rashmi , Gupta Neelima , Kango Naveen 
Published: October 2023

AbstractDiabetes mellitus (DM) is a chronic metabolic disease, characterized by persistent hyperglycemia resulting from diminished insulin secretion or insulin resistance. The present study evaluated the ameliorative effects of Withaferin-A (WA) on DM-induced reproductive dysfunction in mice. For the same, mice were intraperitoneally injected with Streptozotocin (STZ), (40 mg/kg/day) for 5 consecutive days to induce DM. Mice were then treated with WA (8 mg/kg/day) in normal and diabetic conditions (STZ + WA). Next, blood glucose levels, oral glucose tolerance, intraperitoneal insulin tolerance, oxidative stress and reproductive parameters were estimated. For reproductive performance, immunofluorescent localization of gonadotropin-releasing hormone (GnRH-I) and estrogen receptor alpha (ERα) in the preoptic area and paraventricular nucleus region of hypothalamus and ERα in testes was performed. STZ-induced diabetes triggered reproductive dysfunctions as mediated by low GnRH-I and ERα in the brain and ERα in the testes along with declined testosterone and estradiol levels. Treatment with WA significantly reduced the blood glucose levels and enhanced glucose clearance accompanied by reduced oxidative stress in the brain, pancreas and testes as indicated by the low levels of H2O2 and MDA in diabetic mice treated with WA (STZ + WA). This study reports, for the first time, that WA can efficiently ameliorate DM-induced reproductive dysfunctions by enhancing endogenous testosterone, estrogen and increased GnRH-I and ERα in the brain and ERα in the testes of DM-induced male mice.
Outcomes and prognosis of progressive pulmonary fibrosis in patients with antineutrophil cytoplasmic antibody-positive interstitial lung disease
Authors: Sakamoto Susumu , Suzuki Aika , Homma Sakae , Usui Yusuke , Shimizu Hiroshige , Sekiya Muneyuki , Miyoshi Shion , Nakamura Yasuhiko , Urabe Naohisa , Isshiki Takuma , Kurosaki Atsuko , Kishi Kazuma 
Published: October 2023

AbstractApproximately one-third of fibrosing interstitial lung diseases exhibit progressive pulmonary fibrosis (PPF), a clinicopathological condition distinct yet resembling idiopathic pulmonary fibrosis (IPF). PPF in ANCA-positive ILD (ANCA-ILD) is poorly documented. To clarify incidence, predictors of PPF in ANCA-ILD, and their prognostic impact, 56 patients with ANCA-ILD were followed for ≥ 1 year (April 2004 to April 2021). PPF was defined per ATS/ERS/JRS/ALAT PPF 2022 guideline. We compared PPF and non-PPF in 38 patients with pulmonary function tests and ≥ 1 year follow up. ANCA-ILD (19 male, 19 female; mean age 72 years) comprised 21 patients with microscopic polyangiitis ILD (MPA-ILD) and 17 with ANCA-positive IP without systemic vasculitis (ANCA-IP). PPF occurred in 15/38 (39.5%) overall, and 27% of patients with MPA-ILD and 53% with ANCA-IP. Patient characteristics did not differ between PPF and non-PPF, however, the survival was significantly worse in patients with PPF than those with non-PPF. On multivariate regression analysis, higher age, higher serum SP-D level, and lower baseline %FVC were associated with PPF. In ANCA-ILD, 39.5% of patients demonstrated PPF, which is associated with increased mortality. Predictors of PPF were older age, higher SP-D, and lower baseline %FVC.
Prevalence of polypharmacy among older adults in Ethiopia: a systematic review and meta-analysis
Authors: kitaw Tegene Atamenta , Haile Ribka Nigatu 
Published: October 2023

AbstractPolypharmacy is a significant concern for older adults. Taking multiple medicines to prevent and treat comorbidities is very common in older adults, potentially leading to polypharmacy. Polypharmacy is associated with the development of geriatric syndromes, including cognitive impairment, delirium, falls, frailty, urinary incontinence, and weight loss. The prevalence of polypharmacy varies according to the literature. There is a paucity of data regarding the prevalence of polypharmacy among older adults. Therefore, this study aimed to estimate the pooled prevalence of polypharmacy among older adults in Ethiopia. A comprehensive search of databases, including PubMed, MEDLINE, EMBASE, Hinari, Cumulative Index to Nursing and Allied Health Literature, International Scientific Indexing, Cochrane library and Web of Science, and Google Scholar, was conducted. STATA statistical software (version 17) was used to analyze the data. Forest plot and I2 heterogeneity test were computed to examine the existence of heterogeneity. Subgroup analysis and sensitivity analysis were done to explore the source of heterogeneity. Publication bias was evaluated by using funnel plots and Egger’s test. A random effect model was used to determine the pooled prevalence of polypharmacy. After reviewing 123 studies, 13 studies with a total of 3547 older adults fulfilled the inclusion criteria and were included in this meta-analysis. The result from 13 studies revealed that the pooled prevalence of polypharmacy among older adults in Ethiopia was 37.10% (95CI: 28.28–45.91). A Subgroup Meta-analysis showed that the heterogeneity level was slightly lower among studies done in Oromia region (I2 = 46.62, P-value = 0.154). Higher pooled polypharmacy prevalence was found among older adults with cardiovascular disorders (42.7%) and admitted patients (51.4%). In general, it was found that the pooled prevalence of polypharmacy among older adults in Ethiopia was high. More than one in three older adults take five or more medications at a time. Thus, intervention focusing on rational geriatric pharmacotherapy is significant to prevent unnecessary pill burden, adverse drug events, medical costs, geriatric morbidity, and mortality. Furthermore, enhancing pharmacist roles towards medication therapy management and safety monitoring in older adults is also indicated.
Range-wide and temporal genomic analyses reveal the consequences of near-extinction in Swedish moose
Authors: Dussex Nicolas , Kurland Sara , Olsen Remi-André , Spong Göran , Ericsson Göran , Ekblom Robert , Ryman Nils , Dalén Love , Laikre Linda 
Published: October 2023

AbstractUngulate species have experienced severe declines over the past centuries through overharvesting and habitat loss. Even if many game species have recovered thanks to strict hunting regulation, the genome-wide impacts of overharvesting are still unclear. Here, we examine the temporal and geographical differences in genome-wide diversity in moose (Alces alces) over its whole range in Sweden by sequencing 87 modern and historical genomes. We found limited impact of the 1900s near-extinction event but local variation in inbreeding and load in modern populations, as well as suggestion of a risk of future reduction in genetic diversity and gene flow. Furthermore, we found candidate genes for local adaptation, and rapid temporal allele frequency shifts involving coding genes since the 1980s, possibly due to selective harvesting. Our results highlight that genomic changes potentially impacting fitness can occur over short time scales and underline the need to track both deleterious and selectively advantageous genomic variation.
Inertial self-propelled particles in anisotropic environments
Authors: Sprenger Alexander R. , Scholz Christian , Ldov Anton , Wittkowski Raphael , Löwen Hartmut 
Published: October 2023

AbstractSelf-propelled particles in anisotropic environments can exhibit a motility that depends on their orientation. This dependence is relevant for a plethora of living organisms but difficult to study in controlled environments. Here, we present a macroscopic system of self-propelled vibrated granular particles on a striated substrate that displays orientation-dependent motility. An extension of the active Brownian motion model involving orientation-dependent motility and inertial effects reproduces and explains our experimental observations. The model can be applied to general n-fold symmetric anisotropy and can be helpful for predictive optimization of the dynamics of active matter in complex environments.
High-resolution nanoscale NMR for arbitrary magnetic fields
Authors: Meinel Jonas , Kwon MinSik , Maier Rouven , Dasari Durga , Sumiya Hitoshi , Onoda Shinobu , Isoya Junichi , Vorobyov Vadim , Wrachtrup Jörg 
Published: October 2023

AbstractNitrogen vacancy (NV) centers are a major platform for the detection of nuclear magnetic resonance (NMR) signals at the nanoscale. To overcome the intrinsic electron spin lifetime limit in spectral resolution, a heterodyne detection approach is widely used. However, application of this technique at high magnetic fields is yet an unsolved problem. Here, we introduce a heterodyne detection method utilizing a series of phase coherent electron nuclear double resonance sensing blocks, thus eliminating the numerous Rabi microwave pulses required in the detection. Our detection protocol can be extended to high magnetic fields, allowing chemical shift resolution in NMR experiments. We demonstrate this principle on a weakly coupled 13C nuclear spin in the bath surrounding single NV centers, and compare the results to existing heterodyne protocols. Additionally, we identify the combination of NV-spin-initialization infidelity and strong sensor-target-coupling as linewidth-limiting decoherence source, paving the way towards high-field heterodyne NMR protocols with chemical resolution.
A robust poly-reference frequency-domain identification method to extract dynamic properties from vibration data
Authors: Amador Sandro Diord Rescinho , Brincker Rune 
Published: October 2023

AbstractWhen performing vibration tests on structural systems, engineers face the challenge of extracting the dynamic properties from the measured data in an accurate and robust manner. Though several methods exist for this purpose, in some circumstances, they fail to provide clear estimates for these properties, particularly when applied to noise-contaminated data. Here we propose a robust and accurate method formulated in frequency-domain modal model for extracting dynamic properties from vibration data. The method is applied to three application examples, namely the vibrations simulated with the aid of a finite element model and the real-life vibration measurements of a platform specimen and of a full-scale concrete heritage court building. Its performance is thereafter assessed by the so-called stabilization diagrams, the relative error between estimated and exact properties, the modal assurance criterion, and by comparing the synthesized frequency functions to their measured counterparts. This assessment shows that the proposed approach tends to provide clearer and more accurate identification results than those from the state-of-the-art identification methods.
Numerical thermal analysis of synchronous reluctance generator for wind energy application
Authors: Tolesa Tefera Kitaba , Tripathy Praveen , Adda Ravindranath 
Published: October 2023

AbstractThis paper focuses on the thermal analysis of the synchronous reluctance generator with a rating of 2.1 kW. It mainly uses explicit, and implicit finite difference methods for thermal analysis to reduce the complexity of thermal calculation for the machine's components. It compares the results with the results obtained using a finite element analysis (FEA) and includes the experimental verification of the obtained results. The explicit, and implicit finite difference thermal analysis is relatively simple and computationally fast. Once the design parameters are known, the electric losses and iron losses of the synchronous reluctance generator are evaluated. These machine parameters are utilized in developing the explicit finite difference (EFD), an implicit finite difference (IFD), and a 3D FEA model for thermal analysis. It is observed that the obtained results from the EFD, IFD, FEA, and experiments are very close to each other, and the temperature rise for the designed machine is within the desired and acceptable range.
Druckulkus unter Kompressionstherapie bei Neuropathie und arteriellem Verschluss
Authors: Stegemann Jana , Miller Anya 
Published: October 2023

ZusammenfassungWir berichten über eine Patientin, die infolge der Komplexen Physikalischen Entstauungstherapie (KPE) ein Ulkus mit Osteomyelitis am Fuß entwickelte.Zur Behandlung eines iatrogenen Lymphödems im Stadium II am linken Unterschenkel und Fuß wurde eine Phase-1-Behandlung (Entstauungsphase) mit täglicher manueller Lymphdrainage (MLD) und Kompressionsbandagierung eingeleitet. Im Verlauf bildete sich ein Ulkus am lateralen Fußrand.Bei Zustand nach Resektion, Polychemotherapie und Radiatio eines Synovialsarkoms der linken Kniekehle vor 22 Jahren, sowie Rekonstruktion der A. poplitea bestand eine Polyneuropathie, weshalb ein Verschluss der A. poplitea bis zu diesem Zeitpunkt symptomlos blieb.Der durch die leitliniengerechte Kompressionsbandagierung und -bestrumpfung erhöhte Druck im linken Fuß führte im Zusammenhang mit der Minderperfusion des Gewebes zur Entstehung eines infizierten Druckulkus mit Osteomyelitis.Durch interventionelle Rekanalisation des arteriellen Stroms, lokale chirurgische Sanierung mit Teilamputation des Os Metatasale V und systemische Antibiose wurde eine Heilung des Ulkus erreicht.
Evaluation Of The Relationship Of Kinesiophobia With Anxiety, Upper
Extremity Disability And Quality Of Life In Patients With Frozen
Shoulders
Authors: Batmaz öznur Uysal , Yakar Burkay , Mirzaoğlu Tacettin , Yılmaz Ahmet , Em Serda , Batmaz Ibrahim 
Published: October 2023

Abstract
Introduction Frozen shoulder is a painful shoulder disease in which
glenohumeral joint movements are actively and passively restricted in all
directions. If not treated, it can cause various psychological diseases and
muscle and joint diseases. Kinesiophobia; this is defined as a fear of physical
activity resulting from excessive sensitivity and an uncomfortable feeling due
to painful or repeated injury. In this study, it was aimed to evaluate the
relationship of kinesiophobia to upper extremity disability, anxiety and quality
of life in patients with frozen shoulder.
Materials and methods Fırat University Faculty of Medicine,
Department of Physical Medicine and Rehabilitation, between September 2020 and
March 2021; As a result of clinical evaluation and radiological examinations,
patients were enrolled between the ages of 18–75 and who agreed to
participate in the study; 48 patients were diagnosed with frozen shoulder and
met the inclusion and exclusion criteria of the study and were included in the
patient group; Fourty healthy subjects aged between 18–75 years, who did
not have shoulder disease and who met the inclusion and exclusion criteria of
the study, were included in the control group. A total of 88 cases were included
in the study. The following scales were used. TAMPA kinesiophobia scale to
assess kinesiophobia in patients and control group, Beck Anxiety scale to assess
anxiety in patient group; The Disabilities of The Arm, Shoulder and Hand (DASH)
scale to assess upper extremity disability; Short Form (SF)-36 was used to
assess quality of life.
Results TAMPA kinesiophobia scale was found to be significantly different
in the patient group when the patient group and control group were compared.
According to the correlation analysis, the TAMPA kinesiophobia scale showed a
positive correlation with the Beck-Anxiety and DASH scales in the patient group,
while a negative correlation was found with the SF36-Physical function,
emotional role difficulty and social functionality.
Conclusion In patients with frozen shoulder, kinesiophobia seems to be
associated with increased anxiety and upper extremity disability, as well as low
quality of life. Structural disorders as well as psychological factors should be
taken into account among the reasons for the prolonged limitation of movement
and delayed recovery. When the physicians serving in the primary care are
experienced with patient management with frozen shoulder, as evaluated for
therapeutic purposes, planning psychological support treatments in addition to
medical and physical therapy will increase the quality of health care provided
to patients.
Die späte offene Semikonversion mit Prothesenerhalt bei (Typ II­)Endoleckagen mit spätem Aneurysmasackwachstum nach EVAR - Indikationen, Methode und Ergebnisse im eigenen Patientenkollektiv
Authors: Walensi Mikolaj , Krasniuk Iuri , Tsilimparis Nikolaos , Hoffmann Johannes N. 
Published: October 2023

ZusammenfassungDie EVAR (englisch: Endovascular Aortic Repair) ist inzwischen die häufigste Methode zur
Ausschaltung eines Bauchaortenaneurysmas, birgt jedoch prinzipiell und – nach neusten
Erkenntnissen klinisch bestätigt – die Gefahr später auftretender Komplikationen. Diese
können u. a. durch ein (spätes) Aneurysmasackwachstum entstehen. Sind konservative und
interventionelle Therapiemaßnahmen diesbezüglich ausgeschöpft, so ist eine offene Konversion
vonnöten, um einer Aneurysmaruptur vorzubeugen. Hierzu stehen mehrere Verfahren zur
Verfügung, bei denen die EVAR-Prothese komplett erhalten werden kann oder (partiell)
entfernt wird. Die späte offene Semikonversion mit In-situ-Erhalt der EVAR-Prothese und
Raffung des Aneurysmasacks kann für den Patienten im Vergleich zur vollständigen Konversion
eine weniger belastende Operationsmethode darstellen. Ziel der vorliegenden Arbeit ist die
Darstellung der Operationsmethode samt Indikationen und technischen Hinweisen sowie die
Präsentation der Ergebnisse im rezenten klinikeigenen Patientenkollektiv.Alle Patienten, die in unserer Klinik für Gefäßchirurgie und Phlebologie aufgrund einer
(Typ-II-)Endoleckage semikonvertiert wurden, wurden eingeschlossen. Alle Daten werden als n
(%) bzw. Median (Spannweite) angegeben.Zwischen 6/2019 und 3/2023 wurde bei 13 Patienten eine Semikonversion durchgeführt.
Diese fand 6 (2–12) Jahre (Median, Spannweite) nach der initialen EVAR statt, der
Aneurysmasackdurchmesser lag zum Zeitpunkt der Semikonversion bei 69 mm (58–95 mm). Die
Operationszeit lag bei 114 min (97–147 min), der Blutverlust bei 100 ml (100–1500 ml). Fünf
(38%) Patienten erhielten intraoperativ, 2 (15%) postoperativ Bluttransfusionen. Der
Aufenthalt auf der Intensivstation dauerte 1 (1–5) Tage, die Hospitalisationszeit betrug 8
(6–11) Tage. Postoperative Komplikationen waren Darmatonie (3 [23%], 1 [8%] mit
Nausea/Emesis und Magensondeneinlage), Anämie (2 [15%]), Hyponatriämie (2 [15%]), Delir (1
[8%]), COVID-19-Infektion (1 [8%]) sowie 1 [8%] intraabdominelle Nachblutung mit der
Indikation zur operativen Revision und der Transfusion von 8 EKs.Die Semikonversion ist eine sicher durchführbare und mit weniger schweren Komplikationen
behaftete Operationsmethode für ein ausgewähltes Patientenkollektiv und sollte als
Alternative zu invasiveren Methoden mit (partieller) Prothesenentfernung in Betracht gezogen
werden. Weitere Untersuchungen zum Vergleich der Semikonversion mit der vollen Konversion
sind im Langzeitverlauf notwendig um ihre Vorteile zu belegen.
Factors Associated with Antidepressant Effects of Ketamine: A
Reanalysis of Double-Blind Randomized Placebo-Controlled Trial of Intravenous
Ketamine for Treatment-Resistant Depression
Authors: Yonezawa Kengo , Uchida Hiroyuki , Yatomi Taisuke , Ohtani Yohei , Nomoto-Takahashi Kie , Nakajima Shinichiro , Mimura Masaru , Tani Hideaki 
Published: October 2023

Abstract
Introduction Predictors of treatment response to intravenous ketamine
remain unclear in patients with treatment-resistant depression (TRD); therefore,
this study aimed to clarify these predictors using the US National Institutes of
Health database of clinical trials.
Methods Data from a placebo-controlled, double-blind, randomized
controlled trial were used to assess the efficacy of intravenous ketamine in
adult patients with TRD (NCT01920555). For the analysis, data were used from the
participants who had received therapeutic doses of intravenous ketamine
(i. e., 0.5 and 1.0 mg/kg). Logistic and multivariable
regression analyses were conducted to explore the demographic and clinical
factors associated with response to treatment or changes in the Hamilton
Depression Rating Scale 6 items (HAM-D-6) total score.
Results This study included 31 patients with TRD (13 women;
mean±standard deviation age, 48.4±10.9 years). Logistic
regression analysis showed that the age of onset was positively correlated with
treatment response after three days of ketamine administration
(β=0.08, p=0.037); however, no association was observed
between treatment response and age, sex, baseline HAM-D-6 total score, or
dissociative score assessed with the Clinician-Administered Dissociative States
Scale 40 min after ketamine infusion. Multiple regression analysis showed that
no factors were correlated significantly with the percentage change in the
HAM-D-6 total score three days after ketamine administration.
Discussion Later disease onset correlates with a better treatment response
three days after ketamine infusion in patients with TRD. Glutamatergic signal
transmission may be impaired in patients with an earlier onset of depression,
resulting in decreased neuroplasticity, which diminishes ketamine response.