bluuebunny/crossref_metadata_2025_split huggingface dataset:
Subtypes of cognitive impairment in cerebellar disease identified by cross-diagnostic cluster-analysis: results from a German multicenter study
Authors: Liu Qi , Rubarth Kerstin , Faber Jennifer , Sulzer Patricia , Dogan Imis , Barkhoff Miriam , Minnerop Martina , Berlijn Adam M. , Elben Saskia , Jacobi Heike , Aktories Julia-Elisabeth , Huvermann Dana M. , Erdlenbruch Friedrich , Van der Veen Raquel , Müller Johanna , Nio Enzo , Frank Benedikt , Köhrmann Martin , Wondzinski Elke , Siebler Mario , Reetz Kathrin , Konczak Jürgen , Konietschke Frank , Klockgether Thomas , Synofzik Matthis , Röske Sandra , Timmann Dagmar , Thieme Andreas 
Published: December 2024

Abstract

Background
Cognitive and neuropsychiatric impairment, known as cerebellar cognitive affective syndrome (CCAS), may be present in cerebellar disorders. This study identified distinct CCAS subtypes in cerebellar patients using cluster analysis.

Methods
The German CCAS-Scale (G-CCAS-S), a brief screening test for CCAS, was assessed in 205 cerebellar patients and 200 healthy controls. K-means cluster analysis was applied to G-CCAS-S data to identify cognitive clusters in patients. Demographic and clinical variables were used to characterize the clusters. Multiple linear regression quantified their relative contribution to cognitive performance. The ability of the G-CCAS-S to correctly distinguish between patients and controls was compared across the clusters.

Results
Two clusters explained the variance of cognitive performance in patients’ best. Cluster 1 (30%) exhibited severe impairment. Cluster 2 (70%) displayed milder dysfunction and overlapped substantially with that of healthy controls. Cluster 1 patients were on average older, less educated, showed more severe ataxia and more extracerebellar involvement than cluster 2 patients. The cluster assignment predicted cognitive performance even after adjusting for all other covariates. The G-CCAS-S demonstrated good discriminative ability for cluster 1, but not for cluster 2.

Conclusions
The variance of cognitive impairment in cerebellar disorders is best explained by one severely affected and one mildly affected cluster. Cognitive performance is not only predicted by demographic/clinical characteristics, but also by cluster assignment itself. This indicates that factors that have not been captured in this study likely have effects on cognitive cerebellar functions. Moreover, the CCAS-S appears to have a relative weakness in identifying patients with only mild cognitive deficits.

Study registration
The study has prospectively been registered at the German Clinical Study Register (https://www.drks.de; DRKS-ID: DRKS00016854).
Intravenous thrombolysis and mechanical thrombectomy in acute stroke patients on direct oral anticoagulants
Authors: Kristoffersen Espen Saxhaug , Seiffge David Julian , Meinel Thomas Raphael 
Published: December 2024

Abstract
Intravenous thrombolysis and mechanical thrombectomy reduce morbidity and improve functional outcome in ischemic stroke. However, acute recanalization therapies may increase the risk of symptomatic intracranial hemorrhage due to its effects on the brain tissue. An increasing proportion of patients with ischemic stroke are using direct oral anticoagulants (DOACs). While current international guidelines recommend against intravenous thrombolysis in patients with intake of DOACs within the last 48 h, they also highlight lack of evidence in the area. Based on these guidelines, a significant proportion of patients are consequently disqualified from intravenous thrombolysis. Measuring anticoagulant activity before intravenous thrombolysis has been suggested as a way to select patients with low risk of symptomatic intracranial hemorrhage, but uncertainty exists about feasibility, validity, availability and costs. Reversal agents have demonstrated potential in facilitating safer intravenous thrombolysis administration, though their efficacy is not established in randomized controlled trials, and logistical and cost-related barriers limit their widespread use. During the last couple of years several large cohort studies reported no significant increase in symptomatic intracranial hemorrhage among selected patients on DOACs receiving intravenous thrombolysis compared to those not on anticoagulants, even without the use of DOAC plasma levels or reversal agents. Mechanical thrombectomy appears to be generally safe in patients with recent DOAC intake. The aim of this review is to discuss the uncertainty around the safety and efficacy of intravenous thrombolysis and thrombectomy in patients with a recent intake of DOAC, summarize existing knowledge, and outline potential approaches.
Brain MRI volumetry and atrophy rating scales as predictors of amyloid status and eligibility for anti-amyloid treatment in a real-world memory clinic setting
Authors: Zilioli A. , Rosenberg A. , Mohanty R. , Matton A. , Granberg T. , Hagman G. , Lötjönen J. , Kivipelto M. , Westman E. 
Published: December 2024

Abstract
Predicting amyloid status is crucial in light of upcoming disease-modifying therapies and the need to identify treatment-eligible patients with Alzheimer’s disease. In our study, we aimed to predict CSF-amyloid status and eligibility for anti-amyloid treatment in a memory clinic by (I) comparing the performance of visual/automated rating scales and MRI volumetric analysis and (II) combining MRI volumetric data with neuropsychological tests and APOE4 status. Two hundred ninety patients underwent a comprehensive assessment. The cNeuro cMRI software (Combinostics Oy) provided automated computed rating scales and volumetric analysis. Amyloid status was determined using data-driven CSF biomarker cutoffs (Aβ42/Aβ40 ratio), and eligibility for anti-Aβ treatment was assessed according to recent recommendations published after the FDA approval of the anti-Aβ drug aducanumab. The automated rating scales and volumetric analysis demonstrated higher performance compared to visual assessment in predicting Aβ status, especially for parietal-GCA (AUC = 0.70), MTA (AUC = 0.66) scores, hippocampal (AUC = 0.68), and angular gyrus (AUC = 0.69) volumes, despite low global accuracy. When we combined hippocampal and angular gyrus volumes with RAVLT immediate recall and APOE4 status, we achieved the highest accuracy (AUC = 0.82), which remained high even in predicting anti-Aβ treatment eligibility (AUC = 0.81). Our study suggests that automated analysis of atrophy rating scales and brain volumetry outperforms operator-dependent visual rating scales. When combined with neuropsychological and genetic information, this computerized approach may play a crucial role not only in a research context but also in a real-world memory clinic. This integration results in a high level of accuracy for predicting amyloid-CSF status and anti-Aβ treatment eligibility.
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Authors: Kakar Naseebullah , Mascarenhas Selinda , Ali Asmat , Azmatullah  , Ijlal Haider Syed M. , Badiger Vaishnavi Ashok , Ghofrani Mobina Shadman , Kruse Nathalie , Hashmi Sohana Nadeem , Pozojevic Jelena , Balachandran Saranya , Toft Mathias , Malik Sajid , Händler Kristian , Fatima Ambrin , Iqbal Zafar , Shukla Anju , Spielmann Malte , Radhakrishnan Periyasamy 
Published: December 2024

Abstract
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied. Recently, five bi-allelic and three mono-allelic variants in NAV3 were reported in 12 individuals from eight unrelated families with neurodevelopmental disorder (NDD). Here, we report five patients from three unrelated consanguineous families segregating autosomal recessive NDD. Patients have symptoms of dysmorphism, intellectual disability, developmental delay, and behavioral abnormalities. Exome sequencing (ES) was performed on two affected individuals from one large family, and one affected individual from each of the other two families. ES revealed two homozygous nonsense c.6325C > T; p.(Gln2109Ter) and c.6577C > T; p.(Arg2193Ter) and a homozygous splice site (c.243 + 1G > T) variants in the NAV3 (NM_001024383.2). Analysis of single-cell sequencing datasets from embryonic and young adult human brains revealed that NAV3 is highly expressed in the excitatory neurons, inhibitory neurons, and microglia, consistent with its role in neurodevelopment. In conclusion, in this study, we further validate biallelic protein truncating variants in NAV3 as a cause of NDD, expanding the spectrum of pathogenic variants in this newly discovered NDD gene.
Day surgery in children: 15-year analysis of unplanned admissions at a Japanese tertiary children’s hospital
Authors: Sueda Aya , Kagawa Tetsuro , Kojima Taiki 
Published: December 2024

Abstract
Purpose
Unplanned hospital admission following pediatric day surgery is a crucial quality indicator. This study examined the incidence, related risks, interventions, and outcomes of unplanned hospital admission following pediatric day surgery among children in Japan.

Methods
This single-center, retrospective study analyzed data of 14,529 pediatric patients under the age of 18 years who underwent day surgery between August 2007 and December 2022. Unplanned hospital admission was defined as an overnight hospital stay that was not planned preoperatively, including patients who returned to the emergency department and required admission within 24 h of discharge. Reasons for unplanned hospital admission and interventions were categorized, and risk factors were identified using logistic regression.

Results
The incidence of unplanned hospital admission was 0.19%. The most common reasons for unplanned hospital admission were anesthetic-related, particularly postoperative nausea and vomiting (36%), which was managed primarily with intravenous fluids (36%) and antiemetic medications (21%). Medical and surgical factors were next most common. Logistic regression identified longer operation time (adjusted Odds ratio 1.03; 95% confidence interval [1.01, 1.04]; P < 0.001) and exit from the operating room after 15:00 (adjusted Odds ratio 29.3; 95% confidence interval [7.09, 121]; P < 0.001) as significant risk factors for unplanned hospital admission.

Conclusion
Unplanned hospital admission was most commonly anesthetic-related and was managed with intravenous fluids and antiemetic medications. Longer operation time and later exit from the operating room were significant risk factors. These findings can guide targeted strategies to further reduce unplanned hospital admission and improve pediatric day surgery quality.
Comparison of software-assisted and freehand methods of rotational assessment for diaphyseal femur fractures
Authors: Blough Christian , Huang Kevin , Garlich John , Little Milton , Moon Charles , Marecek Geoffrey 
Published: December 2024

Abstract
Objective
Accurate rotational reduction following femoral shaft fracture fixation is absent in up to 28% of cases yet is critical for lower extremity biomechanics. The objective of this cadaveric study was to compare the results of freehand methods of rotational reduction with software-assisted rotational reduction.

Methods
Four fellowship-trained orthopedic trauma surgeons attempted rotational correction in a cadaveric model with fluoroscopic assistance using (1) their method of choice (MoC) and (2) software assistance (SA). After correction, deviation from baseline rotation was calculated.

Results
The mean difference between the two methods (MoC–SA) was 1.1 which was not significant when comparing all raters and between raters individually. SA had significantly less variability compared to MoC. The rate of clinically relevant rotational deformity (> 15°) was 28% using MoC and 11% using SA.

Conclusion
Rotational assessment of diaphyseal femur fractures in this cadaveric model was not significantly different when compared between method of choice and software augmentation.
Mid-term survival and complications of double-crown-retained removable dental prostheses placed in the dental practice – a retrospective study
Authors: Klotz Anna-Luisa , Hagspiel Stefanie , Büsch Christopher , Zenthöfer Stephanie , Rammelsberg Peter , Zenthöfer Andreas 
Published: December 2024

Abstract

Objectives
Clinical data on the performance of double-crown-retained removable dental prostheses (dcRDPs), especially beyond university studies, are rare. The objective of this retrospective clinical study was to evaluate the survival and complication-freeness probabilities of dcRDPs and to identify risk factors for failure and complications in a dental practice setting.

Materials and methods
Anonymized practice data of 174 patients (56.9% female) fitted with a total of 213 dcRDPs (mean of 3.3 abutment teeth per dcRDP) were evaluated up to 11 years after prothesis placement (mean observation time of 3.9 years). Probabilities of survival and complication freeness were calculated on the prosthesis- and abutment level and visualized using the Kaplan–Meier method. Factors influencing failure and complications were computed using Cox regression analyses (R Ver. 7; alpha < 0.05).

Results
During our observation period, 39 (18%) of the dcRDPs failed. The mean (95% CI) overall survival was 94% (90–97%) after 2 years and 86% (80–92%) after 5 years. DcRDP survival correlated with lower patient age and more abutment teeth (P < 0.05), while other analyzed factors did not. The probability of absence of prosthesis-related complications was 92% after 2 years and 80% after 5 years. The probability of no technical complications of abutments (teeth/implants) was 85% after 2 years and 78% after 5 years, and the probability of no biological complications was 87% after 2 years and 72% after 5 years. In total, 141 dcRDPs (66.2%) faced at least one complication during the observation period.

Conclusions
Double-crown-retained prostheses fitted in a dental practice had acceptable mid-term survival rates and common technical and biological complications that were frequently easily manageable. However, prosthesis performance depended on the quality and number of abutment teeth/implants. Within the limitations of this retrospective analysis, the outcomes we observed in a dental practice are comparable to, albeit slightly worse than, those found in university studies.
Clinical relevance.
Evaluation of the clinical performance of dcRDPs fitted in a dental practice is important to estimate durability and complication patterns in order to weigh treatment decisions.
Intermittent theta burst stimulation vs. high-frequency repetitive transcranial magnetic stimulation for post-stroke dysfunction: a Bayesian model-based network meta-analysis of RCTs
Authors: Huang Yanbing , Li Caihui , Cai Rongda , Lin Tianlai , Chen Weiwen 
Published: December 2024

Abstract
Objective
This research aims to comprehensively assess the efficacy of intermittent theta-burst stimulation (iTBS) vs. high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) in post-stroke dysfunction.

Materials and methods
Until January 2024, extensive electronic database searches were conducted (PubMed, Embase, Cochrane Library, Web of Science, etc.). Fugl-Meyer Assessment for Upper Extremities (FMA-UE) was used to assess upper limb (UL) dysfunction; post-stroke dysphagia (PSD) was identified by Standardized Swallowing Assessment (SSA), Fiberoptic Endoscopic Dysphagia Severity Scale (FEDSS), and Penetration/Aspiration Scale (PAS). Results were analyzed by network meta-analysis (NMA), and the mean difference (MD) and 95% confidence intervals (95% CI) were also reported. We conducted a descriptive analysis due to the inability to synthesize data on post-stroke cognitive impairment (PSCI).

Results
19 studies were included for NMA analysis. For UL disorder, the efficacy of treatments was ranked as HF-rTMS [MD (95%CI):3.00 (1.69,4.31)], iTBS [MD (95%CI): 2.16 (0.84, 3.50)], and sham stimulation (reference). For PSD, the efficacy of treatment to reduce scores of FEDSS or SSA were iTBS [FEDSS, MD (95%CI): -0.80 (-1.13, -0.47); SSA, MD (95%CI): -3.37 (-4.36, -2.38)], HF-rTMS [FEDSS, MD (95%CI): -0.43 (-0.76, -0.10); SSA, MD (95%CI): -2.62 (-3.91, -1.35)], and sham stimulation(reference). Descriptive analysis of PSCI found that both iTBS and HF-rTMS were effective in improving PSCI.

Conclusions
HF-rTMS demonstrates superior efficacy in UL dysfunction, while iTBS is more effective in PSD. Clinicians should carefully evaluate the type and severity of post-stroke dysfunction in each patient to select the most appropriate treatment.
Robotic dual-docking surgery for para-aortic lymphadenectomy in endometrial cancer: a prospective feasibility study
Authors: Yanazume Shintaro , Kobayashi Hiroaki , Ushiwaka Takashi , Togami Shinichi , Kamio Masaki 
Published: December 2024

Abstract

Background
The standard for robotic para-aortic lymphadenectomy has not been fully established. Para-aortic lymphadenectomy performed by sharing the same ports with pelvic procedures, a procedure known as dual-docking surgery, can be performed using the latest robotic system. We prospectively examined the ability of standardized dual-docking robotic surgery in endometrial cancer patients.

Methods
This study prospectively verified the feasibility and safety of dual-docking robotic surgeries performed between March 2017 and December 2021. The laterally placed ports were aligned with the umbilicus. Primary outcome was the surgical completion rate; secondary outcomes were blood loss, operative time, unexpected port placement, conversion, complications, length of hospital stay, and survival.

Results
Most patients (14/15, 93%) underwent surgery using our methods without additional port placements, and one patient was converted to laparotomy. Median blood loss was 162 mL (range: 20–685 mL). Median operative time was 183 and 206 min in the upper and lower abdomen. Median number of resected para-aortic lymph nodes was 19 (range: 6–29), and pelvic lymph nodes was 28 (range: 15–42). Although there was no difficulty in moving the forceps intraoperatively, major complications including vessel injury, and pelvic abscesses were observed. The lateral ports could be placed 6–10 cm apart in patients with any range of body type.

Conclusion
Dual-docking surgery for endometrial cancer has the potential to be a standard procedure for robotic endometrial cancer surgery, although a greater number of cases are needed to acquire proficiency.
Impact of hyperkalaemia on renin–angiotensin–aldosterone (RAAS) inhibitor reduction or withdrawal following hospitalisation
Authors: Ellis Hugh Logan , Al-Agil Mohammad , Kelly Philip A. , Teo James , Sharpe Claire , Whyte Martin B. 
Published: December 2024

Abstract
Background
Inhibitors of the renin–angiotensin–aldosterone system (RAAS), such as ACE inhibitors (ACEi), angiotensin-II receptor blockers and mineralocorticoid receptor antagonists, reduce morbidity and mortality in hypertension, congestive heart failure and chronic kidney disease. However, their use can lead to hyperkalaemia. We examined the proportions of RAAS inhibitor (RAASi) reduction or withdrawal, across GFR strata, following hospitalisation and the effect on patient mortality.

Methods
This was a retrospective cohort study of adult patients hospitalised from 1 January2017 to 31 December2020. Biochemistry data, clinical notes and medicines use were extracted using the CogStack platform, from electronic health records. Patients were identified by creatinine measurement during hospitalisation. Hyperkalaemia was defined as potassium > 5.0 mmol/L, with severity categorisation. RAASi discontinuation defined as ≥ 48 h without administration. Mortality risk associated with RAASi cessation was assessed using Cox proportional hazards models.

Results
Among 129,172 patients with potassium measurements, 49,011 were hospitalised. Hyperkalaemia prevalence was 8.57% in the emergency department and 16.79% among hospitalised patients. Higher hyperkalaemia levels correlated with increased CKD and heart failure. RAASi use was more common in hyperkalaemic patients, with higher discontinuation rates during hospitalisation (36% with potassium 5–5.5 mmol/L; 61% with potassium > 6.5 mmol/L). By discharge, 32% of patients had RAASi stopped, and 2% doses reduced. Discontinuation of RAASi was associated with 37% worse survival probability.

Conclusion
RAASi cessation was greater with hyperkalaemia and associated with increased mortality in hospitalised patients. Reinstitution of RAASi after hospital discharge, or alternative management of hyperkalaemia if maintained on RAASi therapy, may improve clinical outcomes.
Besonderheiten der Pharmakotherapie Jugendlicher mit Epilepsie
Authors: Feucht M. , Pimpel B. 
Published: December 2024

Zusammenfassung
Epilepsien gehören zu den häufigsten chronischen neurologischen Erkrankungen des Jugendalters. Umfassende hormonelle Veränderungen führen zu Änderungen der klinischen Repräsentanz (inklusive assoziierter komorbider Störungen) bei seit der Kindheit bestehenden sowie zur Erstmanifestation einer Reihe neuer Epilepsiesyndrome, während altersgebundene Syndrome in dieser Zeit meist spontan remittieren. Geschlechtsspezifische Hormonveränderungen beeinflussen die Pharmakodynamik und -kinetik der zur Behandlung verfügbaren anfallssupprimierenden Substanzen und damit deren Wirk- und Nebenwirkungsspektren. Schließlich muss sich die Arzt-Patienten-Beziehung – soweit möglich – schrittweise vom familien- in Richtung eines patientenzentrierten Zugangs mit Unterstützung zunehmender Eigenverantwortung der jungen PatientInnen für ihre Erkrankung entwickeln. Die vorliegende Übersicht behandelt die Besonderheiten der Pharmakotherapie der Epilepsien im Jugendalter sowie Unterschiede zu den rezent publizierten Leitlinien für Erwachsene.