bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnostic value of regional homogeneity and fractional amplitude of low-frequency fluctuations in the classification of schizophrenia and bipolar disorders
Authors: Cattarinussi Giulia , Di Camillo Fabio , Grimaldi David Antonio , Sambataro Fabio 
Published: June 2024

AbstractSchizophrenia (SCZ) and bipolar disorders (BD) show significant neurobiological and clinical overlap. In this study, we wanted to identify indexes of intrinsic brain activity that could differentiate these disorders. We compared the diagnostic value of the fractional amplitude of low-frequency fluctuations (fALFF) and regional homogeneity (ReHo) estimated from resting-state functional magnetic resonance imaging in a support vector machine classification of 59 healthy controls (HC), 40 individuals with SCZ, and 43 individuals with BD type I. The best performance, measured by balanced accuracy (BAC) for binary classification relative to HC was achieved by a stacking model (87.4% and 90.6% for SCZ and BD, respectively), with ReHo performing better than fALFF, both in SCZ (86.2% vs. 79.4%) and BD (89.9% vs. 76.9%). BD were better differentiated from HC by fronto-temporal ReHo and striato-temporo-thalamic fALFF. SCZ were better classified from HC using fronto-temporal-cerebellar ReHo and insulo-tempo-parietal-cerebellar fALFF. In conclusion, we provided evidence of widespread aberrancies of spontaneous activity and local connectivity in SCZ and BD, demonstrating that ReHo features exhibited superior discriminatory power compared to fALFF and achieved higher classification accuracies. Our results support the complementarity of these measures in the classification of SCZ and BD and suggest the potential for multivariate integration to improve diagnostic precision.
Headache severity in patients with post COVID-19 condition: a case-control study
Authors: Rueb Mike , Ruzicka Michael , Fonseca Gerardo Jesus Ibarra , Valdinoci Elisabeth , Benesch Christopher , Pernpruner Anna , von Baum Max , Remi Jan , Jebrini Tarek , Schöberl Florian , Straube Andreas , Stubbe Hans Christian , Adorjan Kristina 
Published: June 2024

AbstractPost COVID-19 conditions (PCC) present with a wide range of symptoms. Headache is one of the most frequently reported neurological symptoms by patients with PCC. We aimed to assess the prevalence of headache in patients with PCC who attended the Post-COVIDLMU outpatient department at LMU University Hospital in Munich. We hypothesized that headaches occur more frequently in patients with PCC than in the control group. Patients answered a questionnaire containing sociodemographic characteristics, their current symptoms, and prior psychiatric and somatic diagnoses, the WHO Quality of Life assessment (WHOQOL-BREF), 9-item Patient Health Questionnaire (PHQ-9), and the Fatigue Severity Scale (FSS). 188 PCC patients were included in this study and compared to a control group of patients with a history of COVID-19 or a different infectious disease – but no consecutive post-infectious condition (nc=27). 115 (61%) of our PCC patients were female. The median age was 41 years. 60 (32%, p = 0.001) had a pre-existing psychiatric diagnosis. PCC was associated with worse outcomes in all four domains of the WHOQOL-BREF (p < 0.001), high levels of fatigue (FSS; p < 0.001), and a higher likeliness for symptoms of depression (PHQ-9; p < 0.001). We were able to confirm that psychiatric disorders are more frequently associated with headaches in PCC patients. Headache should be assessed and treated in the context of PCC not only by neurologists but by multi-professional teams and regarding all PCC symptoms.
Disorganization in individuals at clinical high risk for psychosis: psychopathology and treatment response
Authors: Biancalani Arianna , Occhionero Michele , Leuci Emanuela , Quattrone Emanuela , Azzali Silvia , Paulillo Giuseppina , Pupo Simona , Pellegrini Pietro , Menchetti Marco , Pelizza Lorenzo 
Published: June 2024

AbstractDisorganization is a nuclear dimension of psychosis, especially in schizophrenia. Despite its relevant association with poor prognosis and negative outcomes, it is still under-investigated compared to positive and negative symptoms, in particular at the onset of illness. This study explored disorganization in youth at Clinical High Risk for Psychosis (CHR-P) over a 2-year period. A sample of 180 CHR-P participants (50% males; 51.1% with baseline second-generation antipsychotic medication) recruited within a specialized CHR-P service completed the Positive and Negative Syndrome Scale (PANSS) and the Global Assessment of Functioning (GAF) scale. Across the follow-up, we examined key associations of disorganization with other domains of psychopathology, functioning, and treatment response using Spearman’s rank correlation coefficients and linear regression analyses. Our results showed a significant longitudinal reduction in disorganization severity levels across the follow-up. This decrease was significantly associated with improvements in negative symptoms and daily functioning, with a shorter duration of untreated psychiatric symptoms, and with baseline equivalent dose of antipsychotic medication. No significant longitudinal associations with other treatment component of the PARMS program were found. Our findings suggest a longitudinal improvement in disorganization dimension in CHR-P individuals, especially in the context of early interventions targeting reduction in the duration of untreated psychiatric symptoms and favoring a prompt antipsychotic therapy.
Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease
Authors: Schaub Annalisa , Erdmann Hannes , Scholz Veronika , Timmer Manuela , Cordts Isabell , Günther Rene , Reilich Peter , Abicht Angela , Schöberl Florian 
Published: June 2024

AbstractBiallelic pathogenic repeat expansions in RFC1 were recently identified as molecular origin of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) as well as of one of the most common causes of adult-onset ataxia. In the meantime, the phenotypic spectrum has expanded massively and now includes mimics of multiple system atrophy or parkinsonism. After identifying a patient with a clinical diagnosis of amyotrophic lateral sclerosis (ALS) as a carrier of biallelic pathogenic repeat expansions in RFC1, we studied a cohort of 106 additional patients with a clinical main phenotype of motor neuron disease (MND) to analyze whether such repeat expansions are more common in MND patients. Indeed, two additional MND patients (one also with ALS and one with primary lateral sclerosis/PLS) have been identified as carrier of biallelic pathogenic repeat expansions in RFC1 in the absence of another genetic alteration explaining the phenotype, suggesting motor neuron disease as another extreme phenotype of RFC1 spectrum disorder. Therefore, MND might belong to the expanding phenotypic spectrum of pathogenic RFC1 repeat expansions, particularly in those MND patients with additional features such as sensory and/or autonomic neuropathy, vestibular deficits, or cerebellar signs. By systematically analyzing the RFC1 repeat array using Oxford nanopore technology long-read sequencing, our study highlights the high intra- and interallelic heterogeneity of this locus and allows the identification of the novel repeat motif ‘ACAAG’.
Validation of smartwatch electrocardiogram intervals in children compared to standard 12 lead electrocardiograms
Authors: Ernstsson Julia , Svensson Birgitta , Liuba Petru , Weismann Constance G. 
Published: June 2024

AbstractLay people are now able to obtain one-lead electrocardiograms (ECG) using smartwatches, which facilitates documentation of arrhythmias. The accuracy of smartwatch derived ECG intervals has not been validated in children though. Home-based monitoring of ECG intervals using a smartwatch could improve monitoring of children, e.g. when taking QTc prolonging medications. The aim of this study was to validate the ECG intervals measured by smartwatch in comparison to standard 12-lead ECGs in children and adolescents. Prospective study of children (age 5—17 years) at the outpatient clinic of a national pediatric heart center. Patients underwent a smartwatch ECG (ScanWatch, Withings) and a simultaneous standard 12-lead ECG. ECG intervals were measured both automatically and manually from the smartwatch ECG and the 12-lead ECG. Intraclass correlation coefficients and Bland–Altman plots were performed. 100 patients (54% male, median age 12.9 (IQR 8.7–15.6) were enrolled. The ICC calculated from the automated smartwatch and automated 12-lead ECG were excellent for heart rate (ICC 0.97, p < 0.001), good for the PR and QT intervals (ICC 0.86 and 0.8, p < 0.001), and moderate for the QRS duration and QTc interval (ICC 0.7 and 0.53, p < 0.001). When using manual measurements for the smartwatch ECG, validity was improved for the PR interval (ICC 0.93, p < 0.001), QRS duration (ICC 0.92, p < 0.001), QT (ICC 0.95, p < 0.001) and QTc interval (ICC 0.84, p < 0.001).Conclusion: Automated smartwatch intervals are most reliable measuring the heart rate. The automated smartwatch QTc intervals are less reliable, but this may be improved by manual measurements.What is Known:

In adults, smartwatch derived ECG intervals measured manually have previously been shown to be accurate, though agreement for automated QTc may be fair.

What is New:

In children, automated smartwatch QTc intervals are less reliable than RR, PR, QRS and uncorrected QT interval.

Accuracy of the QTc can be improved by peroforming manual measurements.
Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China
Authors: Li Jing , He Peng , Cai Qindong , Chen Lili , Wang Yali , Cai Weifeng , Qiu Yibin , Liu Shunyi , Guo Wenhui , Chen Minyan , Lin Yuxiang , Wang Chuan , Fu Fangmeng 
Published: June 2024

Abstract
Purpose
Limited data are available regarding the partner and localizer of BRCA2 (PALB2) in Chinese patients with early breast cancer. This study aimed to assess the spectrum and characteristics of germline PALB2 pathogenic variants in this population.

Methods
Peripheral blood samples were collected from 1556 patients diagnosed with BRCA1/2-negative early-onset breast cancer. All coding regions and exon‒intron boundaries of the PALB2 genes were screened through next-generation sequencing.

Results
The prevalence of PALB2 pathogenic variants was approximately 0.77% in the cohort. Eleven PALB2 pathogenic variants were identified in twelve participants, including five frameshift mutations and six nonsense mutations. All other variants were detected once, except for PALB2 c.1056_1057del (detected twice). Two PALB2 carriers (2/12, 16.7%) have documented family history of breast cancer and/or ovarian cancer. Patients with a positive family history exhibited a threefold higher possibility of being identified as PALB2 carriers than those without a family history (2% vs. 0.69%), although the difference was not statistically significant (p = 0.178). Compared to non-carriers, PALB2 carriers has a tendency to appear in younger age (≤ 30 years) (25% vs 14.4%), human epidermal growth factor receptor-2 (HER2)-negative status (83.3% vs. 70.2%), and diagnosed with invasive micropapillary carcinoma (16.7% vs 3.1%).

Conclusion
The prevalence of the germline PALB2 pathogenic variants was approximately 0.77% in Chinese patients with BRCA1/2-negative early-onset breast cancer. Our findings is crucial for understanding population-specific genetic risks and offering insights that can enhance genetic counseling and genetic testing strategies in this population.
Nab-paclitaxel plus platinum versus paclitaxel plus platinum as first-line therapy in patients with metastatic or recurrent cervical cancer
Authors: Liu Yuan , Fang Shan-shan , Zhao Run-sheng , Liu Bo , Jin Yi-qiang , Li Quan 
Published: June 2024

Abstract
Purpose
This study aimed to assess the efficacy and safety of nanoparticle albumin-bound paclitaxel (nab-paclitaxel) plus platinum versus paclitaxel plus platinum as first-line therapy in patients with metastatic or recurrent cervical cancer.

Methods
Between October 2020 and March 2022, consecutive patients with diagnosed with metastatic or recurrent cervical cancer were retrospectively recruited in our hospital. Fifty-four patients were treated with nab-paclitaxel plus cisplatin or carboplatin. Twenty-four patients were treated with paclitaxel plus cisplatin or carboplatin. A propensity score matching (PSM) analysis was done using a multivariable logistic regression model. The two groups were compared for objective response rate (ORR), progression-free survival (PFS) and overall survival (OS) in the raw and matched dataset.

Results
The nab-paclitaxel group showed a higher ORR than the paclitaxel group both in the raw dataset (72.2% vs. 45.8%; P = 0.025) and matched dataset (81.1% vs. 47.6%; P = 0.008). The median PFS was significantly longer in the nab-paclitaxel group than in the paclitaxel group both in the raw and matched dataset (12 vs. 7 months; P < 0.05). The median OS was not reached in the nab-paclitaxel group compared with 15 months in the paclitaxel group, with a trend toward prolongation. The most common toxicity was hematological adverse events, including grade 3–4 neutropenia, grade 3 anemia and thrombocytopenia in both groups and no statistical differences were observed between the groups (all P > 0.05).

Conclusion
Compared with paclitaxel plus platinum, nab-paclitaxel plus platinum may be an effective and tolerable option as first-line therapy for patients with metastatic or recurrent cervical cancer.
Enhancing hepatocellular carcinoma management: prognostic value of integrated CCL17, CCR4, CD73, and HHLA2 expression analysis
Authors: Gan Wei , Sun Bao-Ye , Yang Zhang-Fu , Ye Cheng , Wang Zhu-Tao , Zhou Cheng , Sun Guo-Qiang , Yi Yong , Qiu Shuang-Jian 
Published: June 2024

Abstract
Purpose
Hepatocellular carcinoma (HCC) is a critical global health concern, with existing treatments benefiting only a minority of patients. Recent findings implicate the chemokine ligand 17 (CCL17) and its receptor CCR4 as pivotal players in the tumor microenvironment (TME) of various cancers. This investigation aims to delineate the roles of CCL17 and CCR4 in modulating the tumor’s immune landscape, assessing their potential as therapeutic interventions and prognostic markers in HCC.

Methods
873 HCC patients post-radical surgery from 2008 to 2012 at Zhongshan Hospital, Fudan University were retrospectively examined. These individuals were stratified into a training cohort (n = 354) and a validation cohort (n = 519). Through immunohistochemical analysis on HCC tissue arrays, the expressions of CCL17, CCR4, CD73, CD47, HHLA2, and PD-L1 were quantified. Survival metrics were analyzed using the Cox model, and a prognostic nomogram was devised via R software.

Results
The investigation confirmed the presence of CCL17 and CCR4 within the cancerous and stromal compartments of HCC tissues, associating their heightened expression with adverse clinical markers and survival outcomes. Notably, the interplay between CD73 and CCR4 expression in tumor stroma highlighted a novel cellular entity, CCR4 + CD73 + stromal cells, impacting overall and relapse-free survival. A prognostic nomogram amalgamating these immunological markers and clinical variables was established, offering refined prognostic insights and aiding in the management of HCC. The findings suggest that reduced CCR4 and CCR4 + CD73 + cell prevalence may forecast improved outcomes post-TACE.

Conclusion
This comprehensive evaluation of CCR4, CCL17, and associated markers introduces a nuanced understanding of the HCC immunological milieu, proposing CCR4 + CD73 + stromal cells as critical to HCC pathogenesis and patient stratification.
Recurrent symptomatic urolithiasis in a patient with cystic fibrosis
Authors: Yel Sibel , Dursun Ismail , Köse Mehmet , Kiraz Aslıhan , Poyrazoglu Muammer Hakan , Dündar Munis 
Published: June 2024

AbstractA 6-month-old girl, previously diagnosed with cystic fibrosis (CF), was admitted to hospital for nephrolithiasis. Her parents were first-degree cousins. The patient underwent endoscopic stone management. Despite no family history of stones and medical treatment with potassium citrate, the patient developed recurrent renal stones and atypical urinary tract infections during follow-up. Basic investigations were all normal. Due to consanguinity and early presentation of nephrolithiasis, metabolic causes such as cystinuria and hyperoxaluria were considered. Cystinuria was excluded due to normal cystine levels. High urinary oxalate excretion was found as expected due to absorptive (secondary) hyperoxaluria in CF patients. An early stone burden in the patient with a history of medical treatment and consanguinity led us to perform a genetic testing. Genetic testing revealed a missense homozygous variant in exon 1 of the AGXT gene. The patient was diagnosed with primary hyperoxaluria type 1. Two rare life-threatening genetic diseases were found together in the same child.
Traffic flows time series in a flood-prone area: modeling and clustering on extreme values with a spatial constraint
Authors: Carpita Maurizio , De Luca Giovanni , Metulini Rodolfo , Zuccolotto Paola 
Published: June 2024

AbstractTime series of traffic flows, extracted from mobile phone origin–destination data, are employed for monitoring people crowding and mobility in areas subject to flooding risk. By applying a vector autoregressive model with exogenous covariates combined with dynamic harmonic regression to such time series, we detected the presence of many extreme events in the residuals, which exhibit heavy-tailed distribution. For this reason, we propose a time series clustering procedure based on tail dependence which is suitable for data characterized by a spatial dimension, since objects’ geographical proximity is taken into account. The final aim is to obtain clusters of areas characterized by the common tendency to the manifestation of extreme events, that in this case study are represented by extremely high incoming traffic flows. The proposed method is applied to the Mandolossa, a strongly urbanized area located on the western outskirts of Brescia (northern Italy) which is subject to frequent flooding.
Epiperimetric inequalities in the obstacle problem for the fractional Laplacian
Authors: Carducci Matteo 
Published: June 2024

AbstractUsing epiperimetric inequalities approach, we study the obstacle problem $$\min \{(-\Delta )^su,u-\varphi \}=0,$$

min
{

(
-
Δ
)

s

u
,
u
-
φ
}
=
0
,

for the fractional Laplacian $$(-\Delta )^s$$

(
-
Δ
)

s

with obstacle $$\varphi \in C^{k,\gamma }(\mathbb {R}^n)$$

φ
∈

C

k
,
γ

(

R

n

)

, $$k\ge 2$$

k
≥
2

and $$\gamma \in (0,1)$$

γ
∈
(
0
,
1
)

. We prove an epiperimetric inequality for the Weiss’ energy $$W_{1+s}$$

W

1
+
s

and a logarithmic epiperimetric inequality for the Weiss’ energy $$W_{2m}$$

W

2
m

. Moreover, we also prove two epiperimetric inequalities for negative energies $$W_{1+s}$$

W

1
+
s

and $$W_{2m}$$

W

2
m

. By these epiperimetric inequalities, we deduce a frequency gap and a characterization of the blow-ups for the frequencies $$\lambda =1+s$$

λ
=
1
+
s

and $$\lambda =2m$$

λ
=
2
m

. Finally, we give an alternative proof of the regularity of the points on the free boundary with frequency $$1+s$$

1
+
s

and we describe the structure of the points on the free boundary with frequency 2m, with $$m\in \mathbb {N}$$

m
∈
N

and $$2\,m\le k.$$

2

m
≤
k
.
Karst cave, a seasonal carbon dioxide exchanger: an example of Sloup-Šošůvka Caves (Moravian Karst)
Authors: Faimon Jiří , Lang Marek , Štelcl Jindřich , Rez Jiří , Baldík Vít , Hebelka Jiří 
Published: June 2024

AbstractPart of the gaseous carbon dioxide (CO2) produced in karst soils / epikarst is transported into underground cavities / caves during the growing season by advective flux, diffusive flux, and flux associated with degassing of seeping water. In dynamic caves, accumulated CO2 is released into the outside atmosphere during the autumn-winter period through advective flux associated with ventilation of the cave in the upward airflow mode. This case study from the Moravian Karst (MK) showed that the net weight of CO2 released annually from the Sloup-Šošůvka Caves (total volume of 131,580 m3 and a total area of 17,950 m2) into the external atmosphere was 348 kg. Extrapolating this value to all known MK caves (area about 352,080 m2) yielded a total of CO2 flux of 6820 kg yr−1. This flux is representing only 0.024‰ of the annual soil respiration from entire MK area (about 2.81 × 108 kg CO2 yr−1).
Reducing Obizhaeva–Wang-type trade execution problems to LQ stochastic control problems
Authors: Ackermann Julia , Kruse Thomas , Urusov Mikhail 
Published: June 2024

AbstractWe start with a stochastic control problem where the control process is of finite variation (possibly with jumps) and acts as integrator both in the state dynamics and in the target functional. Problems of such type arise in the stream of literature on optimal trade execution pioneered by Obizhaeva and Wang (J. Financ. Mark. 16:1–32, 2013) (models with finite resilience). We consider a general framework where the price impact and the resilience are stochastic processes. Both are allowed to have diffusive components. First we continuously extend the problem from processes of finite variation to progressively measurable processes. Then we reduce the extended problem to a linear–quadratic (LQ) stochastic control problem. Using the well-developed theory on LQ problems, we describe the solution to the obtained LQ one and translate it back to the solution for the (extended) initial trade execution problem. Finally, we illustrate our results by several examples. Among other things, the examples discuss the Obizhaeva–Wang model with random (terminal and moving) targets, the necessity to extend the initial trade execution problem to a reasonably large class of progressively measurable processes (even going beyond semimartingales), and the effects of diffusive components in the price impact process and/or the resilience process.
The effect of cone beam computerized tomography voxel size and the presence of root filling on the assessment of middle mesial canals in mandibular molar teeth
Authors: Çimen Tansu , Düzgün Salih , Akyüz İpek Eraslan , Topçuoğlu Hüseyin Sinan 
Published: June 2024

Abstract
Introduction
The study aims to compare the detection of the middle mesial canal (MMC) in mandibular molar teeth using cone beam computed tomography (CBCT) with different voxel sizes when the mesiobuccal (MB) and mesiolingual (ML) canals have three distinct phases (unpreparation, preparation and obturation and the removal of the obturation and repreparation).

Methods
Two hundred forty-two extracted human mandibular molars were collected and kept in a physiological saline solution prior to use. 0.2-, 0.28- and 0.35-mm voxel sizes CBCT (n = 242) were performed in three phases (Ph): Ph1, no MB and ML canal preparation or obturation; Ph2, after MB and ML canals preparation and obturation; and Ph3, after the removal of the obturation of MB and ML canals and canals repreparation. Images were analyzed using OnDemand3D® software. After the CBCT acquisition in Ph3, all the samples were clarified to visualize the presence of the MMC directly. A blinded, previously calibrated examiner analyzed all the images.

Results
The MMC was detected in 15 of the 242 teeth after the clearing technique. The lowest MMC detection rate was observed at 0.35-mm voxel size regardless of the ML and MB canal condition, while the highest was observed at 0.2-mm voxel size (P < 0.05). There is no statistically significant difference between 0.2-mm and 0.28-mm voxel sizes (P > 0.05). In all voxel sizes, the highest rate of detectability of the MMC was seen in Phase 1, while the lowest was in Phase 2.

Conclusions
It may be appropriate to take a 0.20-mm voxel size CBCT image, especially after the removal of root canal filling.

Clinical relevance
An appropriate CBCT voxel size and the absence of root canal filling in the root canal system help to detect the missing MMC.