bluuebunny/crossref_metadata_2025 huggingface dataset:
Mechanochemical coupling of two coupled kinesin monomers: comparison with that of the single dimer
Authors: Xie Ping
Published: November 2024

The study explores the molecular mechanism of the difference or similarity in the dynamics between the cargo transport by two coupled monomers across the kinesin-1, -2 and -3 families and that by the corresponding single dimer.
A local proton-transport promoter for industrial CO2 electroreduction to multicarbon products
Authors: Guo Haiyi , Huang Qi , Li Di , Dai Shiyu , Yang Kang , Chen Sheng , Ma Wei , Li Qiang , Duan Jingjing
Published: November 2024

ex and in situMulti-scale proton transport studied using density functional theory, molecular dynamics, ex situ four-probe and in situ SECM could not only address the pH effect on thermodynamics and kinetics, but also clarify the proton transport mechanism for the industrial-level eCO2RR.
Synergistic microwave hyperthermia treatment for subcutaneous deep in situ breast cancer using conformal array antennas and a microwave-thermal-sensitive nanomaterial
Authors: Zhang Xinyu , Du Yongxing , Qin Ling , Li Baoshan , Wu Qiong , Meng Xianwei
Published: November 2024

A microwave-thermal-sensitive ZIF-8@HA nanoplatform combined with conformal array antennas enhances MW thermal conversion efficiency, reduces tumor ablation time, and minimizes thermal damage to healthy tissues during treatment.
„Im Fokus steht, Menschen in ihrer Lebenswelt zu unterstützen“ – Gemeinwesenorientierung in der Physiotherapie
Authors: Czernik Claudia
Published: November 2024

Das deutsche Gesundheitssystem ist bekannt für seine strenge Sektorentrennung. Auch die Heilmitteltherapie findet hauptsächlich in abgetrennten Räumen statt. Doch geht es nicht darum, mit Menschen genau dort in Kontakt zu kommen, wo sie sich tagtäglich aufhalten? In der Häuslichkeit, in den Lernstätten, am Arbeitsplatz. Prof. Dr. Sandra Schiller und Karoline Munsch, M.Sc. PT, berichten von ihren theoretischen und praktischen Erfahrungen, wie der Blick vom Individuum auf die Community gerichtet werden kann und welchen hohen Stellenwert die Heilmitteltherapie für die Herstellung sozialer Gerechtigkeit haben könnte.
Wie setzen sich Physiopraxen für das Klima ein? – Wissenschaft nachgefragt
Authors: Veit Katrin
Published: November 2024

In ihrer Bachelorarbeit untersuchte Pia Pfeifer, wie Praxisinhabende in der Physiotherapie in Deutschland Klimaschutzmaßnahmen umsetzen. Ziel der Arbeit war es, eine Datengrundlage zu den bestehenden Gegebenheiten und der Bereitschaft zur Umsetzung solcher Maßnahmen zu schaffen. Diese Erkenntnisse sollen dazu beitragen, zukünftige Klimaschutzstrategien in der Physiotherapie gezielt anzupassen und zu optimieren.
Alarm im Blut – Red Flags erkennen
Authors: von Piekartz Harry , Zalpour Christoff
Published: November 2024

Frührentner Karl hat Kopf- und Kieferschmerzen und eine schmerzhafte Nackenverspannung. Sein Therapeut merkt schnell, dass diese Symptome vermutlich nicht muskuloskelettal bedingt sind. Ein Blick in Karls Mund lässt ihn erschrecken.
Die Rechtsfrage: Gelten Verordnungen stationsübergreifend, und wie ist die Haftung geregelt?
Authors: Schlegel Thomas
Published: November 2024

Bei Verlegung von Patient*innen auf eine Intensivstation kann eine Verordnung über Atemtherapie nach mündlicher Rücksprache mit dem medizinischen Fachpersonal der Intensivstation weitergeführt werden. Kann die alte Verordnung auch ohne Rücksprache fortgesetzt werden, wenn aufgrund einer Verbesserung des Gesundheitszustands eine Verlegung zum Beispiel auf eine orthopädische Station stattfindet? Wer haftet dann für einen Behandlungsfehler?

Therapeutin aus Baden-Württemberg
„Sehnen brauchen das richtige Maß an Belastung“ – Sehnenspezialist Nils Heim im Porträt
Authors: Palisi Anna
Published: November 2024

Nils Heim ist Sporttherapeut, Athletiktrainer, selbstständiger Schmerzcoach und hat sich auf Tendinopathien der unteren Extremität spezialisiert. Diese Spezialisierung ist die Folge eigener Betroffenheit. Er bietet für Personen mit chronischen Beschwerden ein individuelles Coaching an, das auch online stattfinden kann.
Gesetze, Beschlüsse, Interessenkonflikte – So funktioniert Gesundheitspolitik
Authors: Czernik Claudia
Published: November 2024

Gemeinsamer Bundesausschuss, Kassenärztliche Vereinigung, Gesundheitsausschuss – schon mal gehört? Super! Wissen Sie auch, was sie mit mir als Therapeut*in zu tun haben? Unsere neue Serie erklärt in fünf Teilen, warum es sich lohnt, die Grundzüge der Gesundheitspolitik zu verstehen, und wo Sie sich aktiv einbringen können.
Großer Nerv mit großem Einfluss – Blick in die Medizin: Vagusnervstimulation
Authors: Herz Mona
Published: November 2024

Mit der Stimulation des zehnten Hirnnervs macht sich die Medizin die gute Verbindung des N. vagus ins Gehirn zunutze und beeinflusst durch elektrische Impulse die Nervenaktivität. Eine neuromodulatorische Therapie, die bereits klinisch zum Einsatz kommt und in Zukunft noch für ein breiteres Anwendungsspektrum zur Verfügung stehen soll.
Belüftete Knochen
Authors: Corts Magga
Published: November 2024

In dieser DHZ-Ausgabe beschäftigt sich die Rubrik „Funktionelle Anatomie“ mit Knochenhohlräumen/Pneumatisationen.
Prüfungsthema: Klimaassoziierte und saisonale Gesundheitsrisiken
Authors: Schmid Eva C.
Published: November 2024

Liebe Heilpraktikeranwärterinnen, liebe Heilpraktikeranwärter – mit diesen Karteikarten wollen wir Sie bei der Vorbereitung auf die mündliche Heilpraktikerüberprüfung unterstützen. Viel Erfolg beim Lernen wünscht Ihnen HP Eva C. Schmid!
Was wissen Sie über … saisonale Gesundheitsrisiken und Fieber?
Authors: Schmid Eva C.
Published: November 2024

Liebe Leserinnen, liebe Leser, testen Sie Ihr Wissen und frischen Sie Ihre Kenntnisse auf. Bitte kreuzen Sie jeweils eine Antwort an. Viel Spaß beim Beantworten wünscht Ihnen HP Eva C. Schmid!
Jedes Molekül macht ein Gefühl
Authors: Zimmermann Eliane
Published: November 2024

Gerüche interagieren direkt mit Emotionen und lassen sich in Form von ätherischen Ölen, zum Beispiel über Raumsprays oder Ultraschall-Vernebler (unter Vermeidung von Verkeimung), schnell und einfach in der Raumluft verteilen. Belastende Gerüche, wie sie unter anderem in der Pflege von Langzeit- und Palliativpatienten entstehen, lassen sich über die Raumbeduftung wirksam abmildern. Fast alle ätherischen Öle wirken laut einer Reihe im Artikel vorgestellter Studien in der Raumluft deutlich keimwidrig (insbesondere auf Bakterien und Pilze), aber zum Teil auch immunmodulierend (zum Beispiel Hinoki-Zypresse), angstlösend (Lavendel, Orange) oder konzentrationssteigernd (Rosmarin, Pfefferminze, Zitrone).
Wenn das Klima in den Körper dringt
Authors: Böcel-Witt Martina
Published: November 2024

Dringen äußere pathogene Faktoren, insbesondere Wind, Kälte, Hitze oder Feuchtigkeit in den Körper ein, zeigen sie sich zunächst als akutes Krankheitsbild (vor allem Wind-Hitze, -Kälte und -Feuchtigkeit – Erkältung in der westlichen Terminologie) und müssen wieder über die Oberfläche ausgeleitet werden. Nach dem Schichtenmodell können äußere – insbesondere klimatische – Faktoren in bestimmte Organe eindringen, wie am Beispiel der Blasenentzündung mit Feuchte-Kälte in der Blase gezeigt wird. Die TCM verwendet ausgewählte Rezepturen und Akupunkturpunkte, die auf den spezifischen äußeren pathogenen Faktor wirken – im vorgestellten Fall wird damit eine akute Erkältung erfolgreich behandelt.
Gewappnet für den Klimawandel
Authors: Bierbach Elvira
Published: November 2024

Hitzeperioden, Starkregen, Überschwemmungen und mehr: Es ist zu erwarten, dass Extremwetterereignisse als Folge des Klimawandels weiter zunehmen werden. Entsprechend ist mit einem Anstieg klimatischer Gesundheitsbedrohungen zu rechnen. Die Polykrise der letzten Jahre hat dazu beigetragen, dass sich auch das gesellschaftliche Klima stark verändert hat in Richtung mehr Stress, Aggression und Erschöpfung. Die im Beitrag vorgestellten Informationen und Maßnahmen sollen Heilpraktiker dazu ermutigen, möglichst selbstwirksam auf den Klimawandel und seine Folgen zu reagieren – sei es in der Aufklärung und Behandlung der Patienten oder im Praxismanagement.
Activation of Hippocampal Neuronal NADPH Oxidase NOX2 Promotes
Depressive-Like Behaviour and Cognition Deficits in Chronic Restraint Stress
Mouse Model
Authors: Zuo Zejie , Zhang Hongyang , Li Zhihui , Qi Fangfang , Hu Haojie , Yang Junhua , Yao Zhibin
Published: November 2024

Background Nicotinamide adenosine dinucleotide phosphate oxidases (NOX)
play important roles in mediating stress-induced depression. Three NOX isotypes
are expressed mainly in the brain: NOX2, NOX3 and NOX4. In this study, the
expression and cellular sources of these NOX isoforms was investigated in the
context of stress-induced depression.

Methods Chronic restraint stress (CRS)-induced depressive-like behaviour
and cognitive deficits were evaluated by tail suspension tests, forced swimming
tests and the Morris water maze test. Hippocampal NOX expression was determined
by immunofluorescence staining and western blotting. The hippocampal levels of
the brain-derived neurotrophic factor (BDNF) mRNA were determined via
quantitative real-time –polymerase chain reaction. Glucocorticoid levels in the
hippocampus were measured using ELISA kits.

Results In the mouse CRS model, a significant increase in NOX2 expression
was observed in the hippocampus, whereas no significant changes in NOX3 and NOX4
expression were detected. Next, NOX2 expression was primarily localised to
neurons (NeuN+) but not microglia (Iba-1+) or astrocytes
(GFAP+). Treatment with gp91ds-tat, a specific NOX2 inhibitor,
effectively mitigated the behavioural deficits induced by CRS. The decreased
expression of the BDNF mRNA in the hippocampus of CRS mice was restored upon
gp91ds-tat treatment. A positive correlation was identified between neuronal
NOX2 expression and serum glucocorticoid levels.

Conclusions Our study indicated that neuronal NOX2 may be a critical
mediator of depression-like behaviours and spatial cognitive deficits in mice
subjected to CRS. Blockade of NOX2 signalling may be a promising therapeutic
strategy for depression.
Hydrotherapie bei Wetterfühligkeit und gesundheitlichen Folgen des Klimawandels
Authors: Gündling Peter W.
Published: November 2024

Vielen bekannt sind Unpässlichkeiten und Beschwerden bei Wetterwechsel wie Klagen über Kopfschmerzen und Kreislaufstörungen. Folge dieser äußeren Reize durch Temperatur- und Luftdruckschwankungen sind Regulationsstörungen des vegetativen Nervensystems. Naturheilverfahren, die der Stimulation und Regeneration der Selbstheilungskräfte dienen, sind als Adaptiva zur Prophylaxe dieser Funktionsstörungen die erste Wahl. Als typische unspezifische Regulationsmaßnahmen sind speziell Wasseranwendungen in besonderer Art und Weise geeignet, diese Fehlregulationen und die der hormonellen Steuerungsmechanismen auszugleichen.
Computed Tomography and Magnetic Resonance Imaging Features of Gracilis Myopathy in Dogs
Authors: Gunovska Hana , Llanos Cesar , Fitzgerald Ella , Alcoverro Emili , Flatz Katharina , Gomes César , Gomes Sergio A.
Published: November 2024

Objectives Gracilis myopathy is a well-recognized syndrome of weight-bearing gait abnormality; however, detailed description of computed tomography (CT) and magnetic resonance imaging (MRI) features of gracilis myopathy is lacking in the literature. This study aims to describe in detail CT and MRI features of gracilis myopathy.

Study design This is a retrospective study. Medical records of dogs with characteristic gait and available pelvic limb MRI or CT, presenting to four referral institutions, were reviewed.

Results Seven cases with MRI (3/7) or CT (4/7) were included, all German Shepherd dogs. MRI findings in all cases included a well-defined, T1-/T2-/proton density-weighted hypointense band along the axial margin of the gracilis muscle, shorter affected muscles, thickening and T2W/STIR hyperintensity with contrast enhancement at the symphyseal tendon, and concurrent focal indentation of the axial border of the gracilis muscle. CT findings included a hyperattenuating band (4/4), single instances of contrast enhancement at the origin of the muscle, thickening of the tendon at the origin and insertion, and concurrent thickening at the musculotendinous muscle.

Conclusion CT and MRI can present advantages in correctly identifying the specific muscles affected within the gracilis–semitendinosus muscle complex. Both modalities can localize anatomically lesions in detail, for instance at the origin or insertion of the muscle, which could present advantages in novel treatment strategies for this condition.
Ex Vivo Biomechanical Comparison of Four Techniques to Tibiotarsus Osteosynthesis in Adult Laying Hens (Gallus gallus domesticus)
Authors: de Carvalho Anderson Luiz , Formenton Ana Bárbara Krummenauer , Campos Joanna Kulczynski , Fraga Junior Vilson Ferreira , Monteiro Eduardo Raposo , Vassoler Jakson Mandredini , Ferreira Márcio Poletto , Alievi Marcelo Meller
Published: November 2024

Objective To assess the biomechanical parameters of intact tibiotarsi (INT) and tibiotarsi with a 5-mm segmental diaphyseal defect repaired using four osteosynthesis techniques: a locking plate (LP), a plate–rod combination, an external skeletal fixator (one end-threaded positive-profile pin per fragment) with an intramedullary pin tie-in (TIF 1), and an external skeletal fixator (two end-threaded positive-profile pins per fragment) with an intramedullary pin tie-in (TIF 2).

Study Design Sixty tibiotarsi from 30 adult laying hens were allocated into five groups for nondestructive dynamic torsion and four-point bending tests, followed by failure tests. Nondestructive dynamic tests evaluated stiffness over time in torsion and bending. Torsion destructive tests provided maximum torque and rotation values, whereas the four-point bending tests provided the yield load, maximum bending load, and maximum displacement.

Results The INT group showed higher torsional stiffness and maximum torque but similar bending stiffness, torsional strength, and bending strength in one or more groups. LP and TIF 2 exhibited the highest similarity frequencies among the treatment groups, whereas the TIF 1 group displayed lower stiffness and strength for most of the evaluated parameters.

Conclusion Similar results for LP and TIF-2 groups suggest the biomechanical equivalence of these methods for tibiotarsal osteosynthesis in adult hens.
Implementation of pharmacogenomics: Experience at Ochsner Health
Authors: Oliver Catherine B , Naik Dhara , Kirkikis Mark , Ghaffari Mary , Oyen Lance J , Thomas Karen C
Published: November 2024

Purpose

Pharmacogenomics is the study of how individual responses to medication are influenced by genetics. As medication experts, pharmacists are uniquely suited to practicing this application of precision medicine. Fundamental operational aspects of developing a pharmacy clinical pharmacogenomics practice are described, and the specific experience of a multisite health system in developing a pharmacogenomics service is discussed.

Considerations for the development of a clinical pharmacy–driven pharmacogenomics service include understanding testing selection, targeting the appropriate patient population, exploration of reimbursement, design of the practice, and education of the pharmacogenomics workforce. Testing can be preemptive or reactive, can occur in house or as a send-out service, and can be panel based or specific to a single gene. Pharmacogenomics is applicable to many medicine specialties, making deployment of services to strategic groups essential. Reimbursement for pharmacogenomics is variable and may pose a barrier to implementation. The demand for pharmacogenomics education for pharmacy students and as a formal postgraduate career path is growing. Pharmacogenomics service planning and implementation details for a multisite health system are described.

Conclusion

The practice of pharmacogenomics presents a remarkable opportunity for clinical pharmacists and health systems to improve patient care outcomes and experiences.
Robust self-supervised learning strategy to tackle the inherent sparsity in single-cell RNA-seq data
Authors: Park Sejin , Lee Hyunju
Published: November 2024

Single-cell RNA sequencing (scRNA-seq) is a powerful tool for elucidating cellular heterogeneity and tissue function in various biological contexts. However, the sparsity in scRNA-seq data limits the accuracy of cell type annotation and transcriptomic analysis due to information loss. To address this limitation, we present scRobust, a robust self-supervised learning strategy to tackle the inherent sparsity of scRNA-seq data. Built upon the Transformer architecture, scRobust employs a novel self-supervised learning strategy comprising contrastive learning and gene expression prediction tasks. We demonstrated the effectiveness of scRobust using nine benchmarks, additional dropout scenarios, and combined datasets. scRobust outperformed recent methods in cell-type annotation tasks and generated cell embeddings that capture multi-faceted clustering information (e.g. cell types and HbA1c levels). In addition, cell embeddings of scRobust were useful for detecting specific marker genes related to drug tolerance stages. Furthermore, when we applied scRobust to scATAC-seq data, high-quality cell embedding vectors were generated. These results demonstrate the representational power of scRobust.
TIPS: a novel pathway-guided joint model for transcriptome-wide association studies
Authors: Wang Neng , Ye Zhenyao , Ma Tianzhou
Published: November 2024

In the past two decades, genome-wide association studies (GWAS) have pinpointed numerous SNPs linked to human diseases and traits, yet many of these SNPs are in non-coding regions and hard to interpret. Transcriptome-wide association studies (TWAS) integrate GWAS and expression reference panels to identify the associations at gene level with tissue specificity, potentially improving the interpretability. However, the list of individual genes identified from univariate TWAS contains little unifying biological theme, leaving the underlying mechanisms largely elusive. In this paper, we propose a novel multivariate TWAS method that Incorporates Pathway or gene Set information, namely TIPS, to identify genes and pathways most associated with complex polygenic traits. We jointly modeled the imputation and association steps in TWAS, incorporated a sparse group lasso penalty in the model to induce selection at both gene and pathway levels and developed an expectation-maximization algorithm to estimate the parameters for the penalized likelihood. We applied our method to three different complex traits: systolic and diastolic blood pressure, as well as a brain aging biomarker white matter brain age gap in UK Biobank and identified critical biologically relevant pathways and genes associated with these traits. These pathways cannot be detected by traditional univariate TWAS + pathway enrichment analysis approach, showing the power of our model. We also conducted comprehensive simulations with varying heritability levels and genetic architectures and showed our method outperformed other established TWAS methods in feature selection, statistical power, and prediction. The R package that implements TIPS is available at https://github.com/nwang123/TIPS.
MetaAll: integrative bioinformatics workflow for analysing clinical metagenomic data
Authors: Bosilj Martin , Suljič Alen , Zakotnik Samo , Slunečko Jan , Kogoj Rok , Korva Misa
Published: November 2024

Over the past decade, there have been many improvements in the field of metagenomics, including sequencing technologies, advances in bioinformatics and the development of reference databases, but a one-size-fits-all sequencing and bioinformatics pipeline does not yet seem achievable. In this study, we address the bioinformatics part of the analysis by combining three methods into a three-step workflow that increases the sensitivity and specificity of clinical metagenomics and improves pathogen detection. The individual tools are combined into a user-friendly workflow suitable for analysing short paired-end (PE) and long reads from metagenomics datasets—MetaAll. To demonstrate the applicability of the developed workflow, four complicated clinical cases with different disease presentations and multiple samples collected from different biological sites as well as the CAMI Clinical pathogen detection challenge dataset were used. MetaAll was able to identify putative pathogens in all but one case. In this case, however, traditional microbiological diagnostics were also unsuccessful. In addition, co-infection with Haemophilus influenzae and Human rhinovirus C54 was detected in case 1 and co-infection with SARS-Cov-2 and Influenza A virus (FluA) subtype H3N2 was detected in case 3. In case 2, in which conventional diagnostics could not find a pathogen, mNGS pointed to Klebsiella pneumoniae as the suspected pathogen. Finally, this study demonstrated the importance of combining read classification, contig validation and targeted reference mapping for more reliable detection of infectious agents in clinical metagenome samples.
Nmix: a hybrid deep learning model for precise prediction of 2’-O-methylation sites based on multi-feature fusion and ensemble learning
Authors: Geng Yu-Qing , Lai Fei-Liao , Luo Hao , Gao Feng
Published: November 2024

RNA 2’-O-methylation (Nm) is a crucial post-transcriptional modification with significant biological implications. However, experimental identification of Nm sites is challenging and resource-intensive. While multiple computational tools have been developed to identify Nm sites, their predictive performance, particularly in terms of precision and generalization capability, remains deficient. We introduced Nmix, an advanced computational tool for precise prediction of Nm sites in human RNA. We constructed the largest, low-redundancy dataset of experimentally verified Nm sites and employed an innovative multi-feature fusion approach, combining one-hot, Z-curve and RNA secondary structure encoding. Nmix utilizes a meticulously designed hybrid deep learning architecture, integrating 1D/2D convolutional neural networks, self-attention mechanism and residual connection. We implemented asymmetric loss function and Bayesian optimization-based ensemble learning, substantially improving predictive performance on imbalanced datasets. Rigorous testing on two benchmark datasets revealed that Nmix significantly outperforms existing state-of-the-art methods across various metrics, particularly in precision, with average improvements of 33.1% and 60.0%, and Matthews correlation coefficient, with average improvements of 24.7% and 51.1%. Notably, Nmix demonstrated exceptional cross-species generalization capability, accurately predicting 93.8% of experimentally verified Nm sites in rat RNA. We also developed a user-friendly web server (https://tubic.org/Nm) and provided standalone prediction scripts to facilitate widespread adoption. We hope that by providing a more accurate and robust tool for Nm site prediction, we can contribute to advancing our understanding of Nm mechanisms and potentially benefit the prediction of other RNA modification sites.
Effective therapy with simvastatin compound ointment in palmoplantar keratoderma induced by lanosterol synthase (LSS) gene variants
Authors: Wang Yumeng , Zhao Anqi , Huang Haisheng , Zhai Yujuan , Liu Yeqiang , Yang Yifan , Pan Chaolan , Cao Qiaoyu , He Wei , Zeng Qin , Yan Qin , Li Min , Li Ming
Published: November 2024

In this study, palmoplantar keratosis in four patients with variants in the LSS gene showed various degrees of improvement after 4–16 weeks of therapy using simvastatin and cholesterol ointment, while keratosis in a patient with MBTPS2 variant displayed poor response.
Differential functional change in olfactory bulb and olfactory eloquent areas in Parkinson’s disease
Authors: Luo Yu , Miao Xinyuan , Rajan Suraj , Paez Adrian G , Zhou Xinyi , Rosenthal Liana S , Pantelyat Alexander , Kamath Vidyulata , Hua Jun
Published: November 2024

Olfactory dysfunction, or hyposmia, frequently occurs as a prodromal symptom and ongoing sign of Parkinson’s disease. Functional MRI is a powerful tool for studying functional changes in the olfactory brain regions in patients with Parkinson’s disease. However, existing studies show inconsistent results and no study has measured olfactory functional MRI abnormalities in the human olfactory bulb directly. This is mainly due to the well-known susceptibility artefacts in conventional functional MRI images that affect several key olfactory-eloquent brain regions, and especially the olfactory bulb. In this study, olfactory functional MRI was performed using a recently developed functional MRI approach that can minimize susceptibility artefacts and measure robust functional MRI signals in the human olfactory bulb during olfactory stimulation. Experiments were performed on high magnetic field (7 T) in 24 early (<5 years of parkinsonian symptoms) Parkinson’s disease patients and 31 matched healthy controls. Our data showed increased functional MRI signal changes (ΔS/S) in the olfactory bulb in patients with early Parkinson’s disease, which correlated with behavioural olfactory measures. Temporally, functional MRI signals in the olfactory bulb returned to the pre-stimulus state earlier after reaching peak amplitude in patients with early Parkinson’s disease, implicating a faster olfactory habituation effect. The piriform cortex showed reduced numbers of activated voxels in patients with early Parkinson’s disease, which correlated with behavioural olfactory assessment. Several secondary olfactory regions including the orbitofrontal cortex, temporal pole and amygdala exhibited reduced numbers of activated voxels and increased functional MRI signal changes in patients with early Parkinson’s disease. Our data also showed that functional MRI results are highly dependent on voxel selection in the functional analysis. In summary, we demonstrate differential spatial and temporal characteristics of olfactory functional MRI signals between the primary and secondary olfactory regions in patients with early Parkinson’s disease. These results may assist the development of novel quantitative biomarkers (especially in the early stages of Parkinson’s disease) to track and predict disease progression, as well as potential treatment targets for early intervention.
Prognostic value of circulating tumor DNA in different cancer types detected by ultra-low-pass whole-genome sequencing: a systematic review and patient-level survival data meta-analysis
Authors: Sogbe Miguel , Aliseda Daniel , Sangro Paloma , de la Torre-Aláez Manuel , Sangro Bruno , Argemi Josepmaria
Published: November 2024

Ultra-low-pass whole-genome sequencing (ULP-WGS) (≤0.5 × coverage) of plasma cell-free DNA (cfDNA) has emerged as a low-cost, promising tool to assess the circulating tumor DNA (ctDNA) fraction. This meta-analysis aims to summarize the current findings and comprehensively investigate the prognostic value of baseline ctDNA detected by ULP-WGS in solid tumors. A systematic review was carried out by searching PubMed/MEDLINE and Scopus databases to identify eligible studies conducted between January 2014 and January 2024. Inclusion criteria comprised studies with reported overall survival and progression-free survival outcomes across therapy-naïve patients with different solid tumors. All patients underwent baseline ULP-WGS of plasma cfDNA and were categorized as ctDNA positive (tumor fraction ≥10%) or negative (tumor fraction <10%). A one-stage meta-analysis was performed using patient-level survival data reconstructed from published articles. A Cox proportional hazards model with shared frailty was used to assess the difference in survival between arms. A total of six studies, comprising 620 patients (367 negative ctDNA and 253 positive ctDNA), were included in the overall survival analysis, while five studies, involving 349 patients (212 negative ctDNA and 137 positive ctDNA), were included in the progression-free survival analysis. The meta-analysis showed that patients with baseline positive ctDNA had a significantly higher risk of death (HR = 2.60, 95% CI: 2.01–3.36) and disease progression (HR = 2.28, 95% CI: 1.71–3.05) compared to those with negative ctDNA. The presence of a positive ctDNA at baseline is associated with increased risk of death and progression in patients with same-stage cancer.
Comment on ‘A cross-sectional analysis of TikTok content relating to sunscreen conspiracy theories and correlation with published evidence on sunscreen risks’: Debunking Sunscreen Myths and Trends – Lessons for Dermatology Educators
Authors: Nikookam Yasmin , Potluru Aparna , Guckian Jonathan
Published: November 2024

The TikTok #AntiSunscreen movement, now garnering millions of views, has spread misleading claims about sunscreen ingredients, fostering unnecessary fear and confusion, especially among younger users relying heavily on social media for health guidance. This letter examines the accuracy and reliability of #AntiSunscreen-related content on TikTok, a popular social media platform predominantly utilised by the younger generation by providing an evidence-based critique.
A case of Japanese spotted fever with purpura fulminans
Authors: Suzuki Sayaka , Hayashi Ryota , Sato Momo , Higuchi Mai , Kase Yukino , Takei Shingo , Oginezawa Mahoko , Kawai Toru , Kanno Naoto , Ogata Hideyuki , Shibata Satoshi , Bamba Yuuki , Abe Riichiro
Published: November 2024

Early intervention is imperative in cases of JSF due to its potentially fatal trajectory if diagnosed belatedly. JSF should be contemplated in the differential diagnosis when generalized purpura, accompanied by a pronounced inflammatory response, is noted, even in the absence of a puncture wound.
Synesthesia is linked to large and extensive differences in brain structure and function as determined by whole-brain biomarkers derived from the HCP (Human Connectome Project) cortical parcellation approach
Authors: Ward Jamie , Simner Julia , Simpson Ivor , Rae Charlotte , del Rio Magda , Eccles Jessica A , Racey Chris
Published: November 2024

There is considerable interest in understanding the developmental origins and health implications of individual differences in brain structure and function. In this pre-registered study we demonstrate that a hidden subgroup within the general population—people with synesthesia (e.g. who “hear” colors)—show a distinctive behavioral phenotype and wide-ranging differences in brain structure and function. We assess the performance of 13 different brain-based biomarkers (structural and functional MRI) for classifying synesthetes against general population samples, using machine learning models. The features in these models were derived from subject-specific parcellations of the cortex using the Human Connectome Project approach. All biomarkers performed above chance with intracortical myelin being a particularly strong predictor that has not been implicated in synesthesia before. Resting state data show widespread changes in the functional connectome (including less hub-based connectivity). These brain-based individual differences within the neurotypical population can be as large as those that differentiate neurotypical from clinical brain states.
Prediction models for ischemic stroke and bleeding in dialysis patients: a systematic review and meta-analysis
Authors: Travlos Christoforos K , Chirgwin-Dasgupta Adario , Trinh Emilie , Sniderman Allan D , Alam Ahsan , Mavrakanas Thomas A
Published: November 2024

Background

Patients with kidney failure on maintenance dialysis have a high stroke and bleeding risk. Multivariable prediction models can be used to estimate the risk of ischemic stroke and bleeding. A systematic review and meta-analysis was performed to determine the performance of the existing models in patients on dialysis.

Methods

MEDLINE and Embase databases were searched, from inception through 12 January 2024, for studies of prediction models for stroke or bleeding, derived or validated in dialysis cohorts. Discrimination measures for models with c-statistic data from three or more cohorts were pooled by random effects meta-analysis and a 95% prediction interval (PI) was calculated. Risk of bias was assessed using PROBAST. The review was conducted according to the PRISMA statement and the CHARMS checklist.

Results

Eight studies were included in this systematic review. All the included studies validated pre-existing models that were derived in cohorts from the general population. None of the identified studies reported the development of a new dialysis specific prediction model for stroke, while dialysis specific risk scores for bleeding were proposed by two studies. In meta-analysis of c-statistics, the CHA2DS2-VASc, CHADS2, ATRIA, HEMORR(2)HAGES and HAS-BLED scores showed very poor discriminative ability in the dialysis population. Six of the eight included studies were at low or unclear risk of bias and certainty of evidence was moderate.

Conclusions

The existing prediction models for stroke and bleeding have very poor performance in the dialysis population. New dialysis-specific risk scores should be developed to guide clinical decision making in these patients.
Addition of ammonium acetate to torula yeast borax and its effect on captures of three species of economically important fruit flies (Diptera: Tephritidae)
Authors: Shelly Todd E , Fezza Thomas J , Kurashima Rick S
Published: November 2024

Many countries operate continuous trapping programs to detect invasive fruit flies (Diptera: Tephritidae) that threaten fruit and vegetable production. Food-based attractants are an important component of these programs, as they are generalized baits that attract both sexes of all target species. However, food baits are considered weak attractants, and the development of improved food attractants would benefit surveillance efforts. Prior work on protein bait sprays demonstrated that the addition of ammonium acetate increased their attractiveness to tephritid fruit flies, and the present study was conducted to determine whether adding ammonium acetate to torula yeast borax solution (a commonly used food bait) similarly increased its attractiveness. Four field experiments were performed in Hawaii comparing captures of Ceratitis capitata (Wiedemann), Bactrocera dorsalis (Hendel), and Zeugodacus cucurbitae (Coquillett) in Multilure traps baited with standard torula yeast borax solution or with the standard solution plus 1% ammonium acetate. Captures of C. capitata and B. dorsalis were significantly higher for the ammonium acetate-supplemented solution, while results for Z. cucurbitae were inconsistent. In one experiment involving only C. capitata, an additional bait having 5% ammonium acetate was included, and captures for both 1% and 5% ammonium acetate exceeded the standard solution but did not differ from one another. Sex ratios of captured flies were similar between food baits for all three species. These results are compared with similar studies on Anastrepha spp., and implications for surveillance programs are discussed.
Aortoesophageal fistula 19 years after radiotherapy for oesophageal cancer: a case report
Authors: Sakakibara Satoshi , Marumoto Akira
Published: November 2024

Background

Aortoesophageal fistula (AEF) is a life-threatening disease that causes massive bleeding, sepsis, and ultimately death. Therefore, emergency treatments are required. Recently, cases of AEF treated with thoracic endovascular aortic repair (TEVAR) have been reported.

Case summary

An 84-year-old man was referred to a local hospital with massive haematemesis and transient loss of consciousness. The patient’s medical history included radiotherapy for oesophageal cancer 19 years before presentation. Gastrofiberscopy revealed an ulcer in the thoracic oesophagus and no recurrence of oesophageal cancer. Computed tomography (CT) showed that the same area was adjacent to the thoracic aorta and that there was no thoracic aortic aneurysm. The patient was then transferred to our institution for surgical treatment. We diagnosed the patient with an AEF caused by radiotherapy of the oesophagus. Therefore, TEVAR was performed. Due to the patient’s advanced age, condition, and the possibility of strong adhesions, there was a high risk that they would be unable to tolerate oesophagectomy to prevent stent graft infection. Therefore, antibiotic therapy was initiated. However, CT revealed a stent graft infection 24 days after TEVAR. The patient died of sepsis 27 days after the procedure.

Discussion

We describe the first case of AEF as a very late complication of radiotherapy for oesophageal cancer. Surgery to repair oesophageal defects is necessary to prevent stent graft infection. However, the decision for such surgery should be made on a case-by-case basis, taking into account the patient’s condition and ability to tolerate the procedure.
Survival of a patient following initial left ventricular assist device implantation and two successive left ventricular assist device exchanges: case report
Authors: Scarsella Luca , Bentley Alexander , Amer Mohamed Ishaq , Thal Serge C
Published: November 2024

Background

Initially conceptualized as a bridge to heart transplantation, the left ventricular assist device (LVAD) has become an important option for improving survival in patients with severe heart failure and poor prognosis.

Case summary

We report the case of a patient suffering from severe chronic heart failure, complicated by ST-elevation myocardial infarction due to left main coronary artery stenosis (NYHA IV, INTERMACS profile 1). Despite support with veno-arterial extracorporeal membrane oxygenation, inotropes, and catecholamine therapy, the patient’s cardiac function did not recover sufficiently. Consequently, the decision was made to proceed with LVAD implantation as destination therapy. The initial LVAD implantation was uneventful, and the patient received anticoagulant therapy according to standard operating procedure. However, pump thrombosis occurred on the first post-operative day, necessitating an LVAD exchange. Following an extended stay in the cardiac surgery intensive care unit, the patient was eventually discharged. Approximately 15 months later, the patient developed a driveline infection, involving most of the intrapericardial components of the LVAD. A second LVAD exchange was required, and the patient received a third LVAD. To mitigate the risk of recurrent infection, suppressive antibiotic therapy with ampicillin/sulbactam was initiated.

Discussion

This is the first reported case of a patient surviving three LVAD implantations and highlights an instance of off-label use of lifelong antibiotic therapy following a driveline infection.
Discrimination in track recommendation but not in grading: experimental evidence among primary school teachers in Hungary
Authors: Kisfalusi Dorottya , Hermann Zoltán , Keller Tamás
Published: November 2024

This study examines discrimination in teacher assessments and track recommendations against Roma minority students in Hungary. We conducted a pre-registered randomized experiment among 413 primary school teachers. Participating teachers evaluated six mathematics or literacy and grammar tests with fictitious, randomized student names and recommended a high school track. Our results show mixed evidence for discrimination against Roma students: teachers do not discriminate in test evaluations but do so in high school track recommendations, though this latter effect is small. We find that contextual factors play a substantial role in discrimination in track recommendations: teachers who receive tests with fewer Roma than non-Roma names discriminate against Roma students, whereas teachers who receive tests with more Roma names do not. In the latter case, non-Roma students receive similarly low track recommendations as Roma students in both experimental conditions. The results are consistent with stereotype-based theories of discrimination.
Revascularization in frail patients with acute coronary syndromes: a retrospective longitudinal study
Authors: Roman Marius , Miksza Joanne , Lai Florence Yuk-Lin , Sze Shirley , Poppe Katrina , Doughty Rob , Squire Iain , Murphy Gavin James
Published: November 2024

Background and Aims

Frailty is increasingly prevalent in people presenting with acute coronary syndrome (ACS). This high-risk group is typically excluded from trials of interventions in ACS, and there is uncertainty about the risks and benefits of invasive management.

Methods

Patients with an ACS diagnosis between 2010 and 2015 in England were identified from Hospital Episode Statistics, with linked Office for National Statistics mortality data. Frailty was defined by the Hospital Frailty Risk Score. Causal inference analysis used regional variation in revascularization as an instrumental variable to estimate average treatment effects of revascularization on cardiovascular mortality up to 5 years in people presenting with ACS and low-, intermediate-, or high-risk frailty.

Results

The analysis included 565 378 ACS patients, of whom 11.6% (n = 65 522) were at intermediate risk and 4.7% (n = 26 504) were at high risk of frailty. Intermediate and high frailty risks were associated with reduced likelihood of echocardiography, invasive angiography, or revascularization and increased likelihood of mortality and major adverse cardiovascular events compared with low frailty risk. Cardiovascular death at 5 years was 78.6%, 77.3%, and 75.7% in people at low, intermediate, and high frailty risk, respectively. Instrumental variable analysis suggested that revascularization resulted in a higher absolute reduction in cardiovascular mortality in high and intermediate frail risk patients compared with low risk at 1-year post-ACS.

Conclusions

Frailty is common in people presenting with ACS, where cardiovascular causes are the principal mode of death. Revascularization is associated with short- and long-term survival benefits in people at intermediate and high risk of frailty after adjustment for measured and unmeasured confounders.
The genome of the cryopelagic Antarctic bald notothen, Trematomus borchgrevinki
Authors: Rayamajhi Niraj , Rivera-Colón Angel G , Minhas Bushra Fazal , Cheng C H Christina , Catchen Julian M
Published: November 2024

The Antarctic bald notothen, Trematomus borchgrevinki (family Nototheniidae) occupies a high latitude, ice-laden environment and represents an extreme example of cold-specialization among fishes. We present the first, high-quality, chromosome-scale genome of a female T. borchgrevinki individual comprised of 23 putative chromosomes, the largest of which is 65 megabasepairs (Mbp) in length. The total length of the genome 935.13 Mbp, composed of 2,094 scaffolds, with a scaffold N50 of 42.67 Mbp. Annotation yielded 22,192 protein-coding genes while 54.75% of the genome was occupied by repetitive elements; an analysis of repeats demonstrated that an expansion occurred in recent time. Conserved synteny analysis revealed that the genome architecture of T. borchgrevinki is largely maintained with other members of the notothenioid clade, although several significant translocations and inversions are present, including the fusion of orthologous chromosomes 8 and 11 into a single element. This genome will serve as a cold-specialized model for comparisons to other members of the notothenioid adaptive radiation.
Repeat-Rich Regions Cause False-Positive Detection of NUMTs: A Case Study in Amphibians Using an Improved Cane Toad Reference Genome
Authors: Cheung Kelton , Rollins Lee Ann , Hammond Jillian M , Barton Kirston , Ferguson James M , Eyck Harrison J F , Shine Richard , Edwards Richard J
Published: November 2024

Mitochondrial DNA (mtDNA) has been widely used in genetics research for decades. Contamination from nuclear DNA of mitochondrial origin (NUMTs) can confound studies of phylogenetic relationships and mtDNA heteroplasmy. Homology searches with mtDNA are widely used to detect NUMTs in the nuclear genome. Nevertheless, false-positive detection of NUMTs is common when handling repeat-rich sequences, while fragmented genomes might result in missing true NUMTs. In this study, we investigated different NUMT detection methods and how the quality of the genome assembly affects them. We presented an improved nuclear genome assembly (aRhiMar1.3) of the invasive cane toad (Rhinella marina) with additional long-read Nanopore and 10× linked-read sequencing. The final assembly was 3.47 Gb in length with 91.3% of tetrapod universal single-copy orthologs (n = 5,310), indicating the gene-containing regions were well assembled. We used 3 complementary methods (NUMTFinder, dinumt, and PALMER) to study the NUMT landscape of the cane toad genome. All 3 methods yielded consistent results, showing very few NUMTs in the cane toad genome. Furthermore, we expanded NUMT detection analyses to other amphibians and confirmed a weak relationship between genome size and the number of NUMTs present in the nuclear genome. Amphibians are repeat-rich, and we show that the number of NUMTs found in highly repetitive genomes is prone to inflation when using homology-based detection without filters. Together, this study provides an exemplar of how to robustly identify NUMTs in complex genomes when confounding effects on mtDNA analyses are a concern.
Balancing selfing and outcrossing: the genetics and cell biology of nematodes with three sexual morphs
Authors: Adams Sally , Tandonnet Sophie , Pires-daSilva Andre
Published: November 2024

Trioecy, a rare reproductive system where hermaphrodites, females, and males coexist, is found in certain algae, plants, and animals. Though it has evolved independently multiple times, its rarity suggests it may be an unstable or transitory evolutionary strategy. In the well-studied Caenorhabditis elegans, attempts to engineer a trioecious strain have reverted to the hermaphrodite/male system, reinforcing this view. However, these studies did not consider the sex-determination systems of naturally stable trioecious species. The discovery of free-living nematodes of the Auanema genus, which have naturally stable trioecy, provides an opportunity to study these systems. In Auanema, females produce only oocytes, while hermaphrodites produce both oocytes and sperm for self-fertilization. Crosses between males and females primarily produce daughters (XX hermaphrodites and females), while male-hermaphrodite crosses result in sons only. These skewed sex ratios are due to X-chromosome drive during spermatogenesis, where males produce only X-bearing sperm through asymmetric cell division. The stability of trioecy in Auanema is influenced by maternal control over sex determination and environmental cues. These factors offer insights into the genetic and environmental dynamics that maintain trioecy, potentially explaining its evolutionary stability in certain species.