bluuebunny/crossref_metadata_2025 huggingface dataset:
Daily cardiac autonomic responses during the Tour de France in a male professional cyclist
Authors: Bourdillon Nicolas , Bellenoue Samuel , Schmitt Laurent , Millet Grégoire P.
Published: January 2024

Background

Heart rate variability (HRV) is a common means of monitoring responses to training, yet in professional cycling, one may question its usefulness, particularly during multi-day competitions such as Grand Tours.

Objectives

This study aims to report and analyze HRV responses in a male professional cyclist over a season, including the Tour de France.

Methods

A professional cyclist recorded resting and exercise inter-beat intervals during 5 months, comprising a training period with two altitude sojourns and two competition blocks, including the Tour de France. Resting recordings lasted 5 min in the supine position and were used for computation of mean heart rate (HR), root mean square of the successive differences (RMSSDs), and power in the low- and high-frequency bands (LF and HF, respectively). Training load quantification was based on recorded HR during exercise and expressed as training impulses (TRIMPSs).

Results

LF (3,319 ± 2,819 vs. 1,097 ± 1,657 ms2), HF (3,590 ± 1858 vs. 1,267 ± 1,683 ms2), and RMSSD (96 ± 26 vs. 46 ± 30 ms) were higher and HR (47 ± 4 vs. 54 ± 2 bpm) was lower during the training period when compared to the two competition blocks. The coefficient of variation (CV) was significantly lower during the training period than during the two competition blocks for RMSSD (26 vs. 72%), LF (85 vs. 160%), and HF (58 vs. 141%).

Discussion

The present study confirms that monitoring daily HRV responses during training periods is valuable in professional cycling, but questions its usefulness during the Tour de France. Moreover, the previous suggestion that CV in RMSSD would help to predict poor performance was not confirmed in a professional cyclist.
Humans gradually integrate sudden gain or loss of visual information into spatial orientation perception
Authors: Voros Jamie , Kravets Victoria , Smith Kieran , Clark Torin K.
Published: January 2024

Introduction

Vestibular and visual information is used in determining spatial orientation. Existing computational models of orientation perception focus on the integration of visual and vestibular orientation information when both are available. It is well-known, and computational models capture, differences in spatial orientation perception with visual information or without (i.e., in the dark). For example, during earth vertical yaw rotation at constant angular velocity without visual information, humans perceive their rate of rotation to decay. However, during the same sustained rotation with visual information, humans can continue to more accurately perceive self-rotation. Prior to this study, there was no existing literature on human motion perception where visual information suddenly become available or unavailable during self-motion.

Methods

Via a well verified psychophysical task, we obtained perceptual reports of self-rotation during various profiles of Earth-vertical yaw rotation. The task involved transitions in the availability of visual information (and control conditions with visual information available throughout the motion or unavailable throughout).

Results

We found that when visual orientation information suddenly became available, subjects gradually integrated the new visual information over ~10 seconds. In the opposite scenario (visual information suddenly removed), past visual information continued to impact subject perception of self-rotation for ~30 seconds. We present a novel computational model of orientation perception that is consistent with the experimental results presented in this study.

Discussion

The gradual integration of sudden loss or gain of visual information is achieved via low pass filtering in the visual angular velocity sensory conflict pathway. In conclusion, humans gradually integrate sudden gain or loss of visual information into their existing perception of self-motion.
Towards ubiquitous and nonintrusive measurements of brain function in the real world: assessing blink-related oscillations during simulated flight using portable low-cost EEG
Authors: Ziccardi Alexia , Van Benthem Kathleen , Liu Careesa Chang , Herdman Chris M. , Ghosh Hajra Sujoy
Published: January 2024

Blink-related oscillations (BRO) are newly discovered neurophysiological phenomena associated with spontaneous blinking and represent cascading neural mechanisms including visual sensory, episodic memory, and information processing responses. These phenomena have been shown to be present at rest and during tasks and are modulated by cognitive load, creating the possibility for brain function assessments that can be integrated seamlessly into real-world settings. Prior works have largely examined the BRO phenomenon within controlled laboratory environments using magnetoencephalography and high-density electroencephalography (EEG) that are ill-suited for real-world deployment. Investigating BROs using low-density EEG within complex environments reflective of the real-world would further our understanding of how BRO responses can be utilized in real-world settings. We evaluated whether the BRO response could be captured in a high-fidelity flight simulation environment using a portable, low-density wireless EEG system. The effects of age and task demands on BRO responses were also examined. EEG data from 30 licensed pilots (age 43.37 +/− 17.86, 2 females) were collected during simulated flights at two cognitive workload levels. Comparisons of signal amplitudes were undertaken to confirm the presence of BRO responses and mixed model ANOVAs quantified the effects of workload and age group on BRO amplitudes. Significant increases in neural activity were observed post-blink compared to the baseline period (p < 0.05), confirming the presence of BRO responses. In line with prior studies, results showed BRO time-domain responses from the delta band (0.5–4 Hz) consisting of an early negative peak followed by a positive peak post-blink in temporal and parietal electrodes. Additionally, task workload and age-related effects were also found, with observations of the enhancement of BRO amplitudes with older age and attenuation of BRO responses in high workloads (p < 0.05). These findings demonstrate that it is possible to capture BRO responses within simulated flight environments using portable, low-cost, easy-to-use EEG systems. Furthermore, biological and task salience were reflected in these BRO responses. The successful detection and demonstration of both task-and age-related modulation of BRO responses in this study open the possibility of assessing human brain function across the lifespan with BRO responses in complex and realistic environments.
Revealing brain connectivity: graph embeddings for EEG representation learning and comparative analysis of structural and functional connectivity
Authors: Almohammadi Abdullah , Wang Yu-Kai
Published: January 2024

This study employs deep learning techniques to present a compelling approach for modeling brain connectivity in EEG motor imagery classification through graph embedding. The compelling aspect of this study lies in its combination of graph embedding, deep learning, and different brain connectivity types, which not only enhances classification accuracy but also enriches the understanding of brain function. The approach yields high accuracy, providing valuable insights into brain connections and has potential applications in understanding neurological conditions. The proposed models consist of two distinct graph-based convolutional neural networks, each leveraging different types of brain connectivities to enhance classification performance and gain a deeper understanding of brain connections. The first model, Adjacency-based Convolutional Neural Network Model (Adj-CNNM), utilizes a graph representation based on structural brain connectivity to embed spatial information, distinguishing it from prior spatial filtering approaches dependent on subjects and tasks. Extensive tests on a benchmark dataset-IV-2a demonstrate that an accuracy of 72.77% is achieved by the Adj-CNNM, surpassing baseline and state-of-the-art methods. The second model, Phase Locking Value Convolutional Neural Network Model (PLV-CNNM), incorporates functional connectivity to overcome structural connectivity limitations and identifies connections between distinct brain regions. The PLV-CNNM achieves an overall accuracy of 75.10% across the 1–51 Hz frequency range. In the preferred 8–30 Hz frequency band, known for motor imagery data classification (including α, μ, and β waves), individual accuracies of 91.9%, 90.2%, and 85.8% are attained for α, μ, and β, respectively. Moreover, the model performs admirably with 84.3% accuracy when considering the entire 8–30 Hz band. Notably, the PLV-CNNM reveals robust connections between different brain regions during motor imagery tasks, including the frontal and central cortex and the central and parietal cortex. These findings provide valuable insights into brain connectivity patterns, enriching the comprehension of brain function. Additionally, the study offers a comprehensive comparative analysis of diverse brain connectivity modeling methods.
Intergenerational transmission of maternal behavioral traits in mice: involvement of the gut microbiota
Authors: Mogi Kazutaka , Akiyama Uruma , Futagawa Natsumi , Tamura Kanami , Kamiya Mai , Mizuta Mami , Yamaoka Miku , Kamimura Itsuka , Kuze-Arata Sayaka , Kikusui Takefumi
Published: January 2024

The matrilineal transmission of maternal behavior has been reported in several species. Studies, primarily on rats, have suggested the importance of postnatal experience and the involvement of epigenetic mechanisms in mediating these transmissions. This study aims to determine whether the matrilineal transmission of maternal behavior occurs in mice and whether the microbiota is involved. We first observed that early weaned (EW) female mice showed lower levels of maternal behavior, particularly licking/grooming (LG) of their own pups, than normally weaned (NW) female mice. This difference in maternal behavioral traits was also observed in the second generation, even though all mice were weaned normally. In the subsequent cross-fostering experiment, the levels of LG were influenced by the nurturing mother but not the biological mother. Finally, we transplanted the fecal microbiota from EW or NW mice into germ-free (GF) mice raising pups. The maternal behaviors that the pups exhibited toward their own offspring after growth were analyzed, and the levels of LG in GF mice colonized with microbiota from EW mice were lower than those in GF mice colonized with microbiota from NW mice. These results clearly indicate that, among maternal behavioral traits, LG is intergenerationally transmitted in mice and suggest that the vertical transmission of microbiota is involved in this process. This study demonstrates the universality of the intergenerational transmission of maternal behavioral traits and provides new insights into the role of microbiota.
Role of lysosome in healing neurological disorders by nano-bioengineering
Authors: Raj Aiswarya , Bandyopadhyay Urmi
Published: January 2024

Lysosomes primarily recognized as center for cellular ‘garbage-disposing-unit’, which has recently emerged as a crucial regulator of cellular metabolism. This organelle is a well-known vital player in the pathology including neurodegenerative disorders. In pathological context, removal of intracellular damaged misfolded proteins, organelles and aggregates are ensured by ‘Autophagy’ pathway, which initially recognizes, engulfs and seals the toxic cargo at the cytosolic environment. Thereafter the cell completes the task of encapsulated cargo elimination upon delivery of them to the terminal compartment - lysosome, which contains acid hydrolases, that are capable of degrading the abnormal protein-lipid-repertoire. The merge between inseparable ‘Autophagy’ and ‘Lysosomal’ pathways evolved into ‘Autophagy-Lysosome Pathway (ALP)’, through which cell ultimately degrades and recycles bio-materials for metabolic needs. Dysregulation of any of the steps of the multi-step ALP can contribute to the development and progression of disorders including Alzheimer’s disease (AD), Parkinson’s disease (PD), and Huntington’s disease (HD). Therefore, targeting differential steps of ALP or directly lysosomes using nano-bioengineering approaches holds great promise for therapeutic interventions. This review aims to explore the role of distal autophagy pathway and proximal lysosomal function, as cellular degradative and metabolic hubs, in healing neurological disorders and highlights the contributions of nano-bioengineering in this field. Despite multiple challenges, this review underscores the immense potential of integrating autophagy-lysosomal biology with nano-bioengineering to revolutionize the field and provide novel therapeutic avenues for tackling neurological-neurodegenerative-disorders.
Dietary intervention improves metabolic levels in patients with type 2 diabetes through the gut microbiota: a systematic review and meta-analysis
Authors: Xu Xiaoyu , Zhang Fan , Ren Jiajia , Zhang Haimeng , Jing Cuiqi , Wei Muhong , Jiang Yuhong , Xie Hong
Published: January 2024

Background

Poor dietary structure plays a pivotal role in the development and progression of type 2 diabetes and is closely associated with dysbiosis of the gut microbiota. Thus, the objective of this systematic review was to assess the impact of dietary interventions on improving gut microbiota and metabolic levels in patients with type 2 diabetes.

Methods

We conducted a systematic review and meta-analysis following the PRISMA 2020 guidelines.

Results

Twelve studies met the inclusion criteria. In comparison to baseline measurements, the high-fiber diet produced substantial reductions in FBG (mean difference −1.15 mmol/L; 95% CI, −2.24 to −0.05; I2 = 94%; P = 0.04), HbA1c (mean difference −0.99%; 95% CI, −1.93 to −0.03; I2 = 89%; P = 0.04), and total cholesterol (mean difference −0.95 mmol/L; 95% CI, −1.57 to −0.33; I2 = 77%; P = 0.003); the high–fat and low–carbohydrate diet led to a significant reduction in HbA1c (mean difference −0.98; 95% CI, −1.50 to −0.46; I2 = 0%; P = 0.0002). Within the experimental group (intervention diets), total cholesterol (mean difference −0.69 mmol/L; 95% CI, −1.27 to −0.10; I2 = 52%; P = 0.02) and LDL-C (mean difference −0.45 mmol/L; 95% CI, −0.68 to −0.22; I2 = 0%; P < 0.0001) experienced significant reductions in comparison to the control group (recommended diets for type 2 diabetes). However, no statistically significant differences emerged in the case of FBG, HbA1c, HOMA-IR, and HDL-C between the experimental and control groups. The high dietary fiber diet triggered an augmented presence of short-chain fatty acid-producing bacteria in the intestines of individuals with T2DM. In addition, the high-fat and low-carbohydrate diet resulted in a notable decrease in Bacteroides abundance while simultaneously increasing the relative abundance of Eubacterium. Compared to a specific dietary pattern, personalized diets appear to result in the production of a greater variety of beneficial bacteria in the gut, leading to more effective blood glucose control in T2D patients.

Conclusion

Dietary interventions hold promise for enhancing metabolic profiles in individuals with T2D through modulation of the gut microbiota. Tailored dietary regimens appear to be more effective than standard diets in improving glucose metabolism. However, given the limited and highly heterogeneous nature of the current sample size, further well-designed and controlled intervention studies are warranted in the future.
Diet quality indices and odds of metabolic dysfunction-associated fatty liver disease: a case-control study
Authors: Ramaiah Pushpamala , Jamel Baljon Kamilya , Alsulami Sana A. , Lindsay Grace M. , Chinnasamy Lathamangeswari
Published: January 2024

Objectives

There are only limited studies investigating the impact of dietary quality indicators, such as dietary quality index (DQI), dietary diversity score (DDS), and alternative healthy eating index (AHEI), on metabolic dysfunction-associated fatty liver disease (MASLD). Furthermore, these indicators may have different components that could lead to varying results. Therefore, this study aims to assess the nutritional quality indicators and their potential association with MASLD.

Methods

The study included 128 recently diagnosed MASLD patients and 256 controls aged between 20 and 60 years. The dietary intake of participants was evaluated using a validated semi-quantitative food frequency questionnaire that consisted of 168 items. In this study, the method used to evaluate dietary diversity was based on five main food groups, specifically bread and grains, vegetables, fruits, meat, and dairy. The AHEI-2010 was computed using data collected from the FFQ.

Results

After adjusting for confounders in the fully adjusted model, a significant negative correlation was observed between DDS and the risk of MASLD (OR 0.41, 95% CI 0.20, 0.97). Participants in the top quartile of AHEI had a 76% lower risk of MASLD compared with those in the bottom quartile after controlling for all potential confounders in the fully adjusted model (OR 0.24, 95% CI 0.12, 0.56).

Conclusion

The results of our study suggest that there is a significant association between adherence to a high-diversity diet and a reduced likelihood of developing MASLD. Similarly, we observed a similar association between adherence to the AHEI diet and a lower risk of MASLD.
Developing and demonstrating an atomistic and holistic model of anthropometric failure among children under five years of age using the National Family Health Survey (NFHS)-5 data from India
Authors: Nandeep E. R. , Jaleel Abdul , Reddy P. Bhaskar , Geddam J. J. Babu , Reddy Samarasimha N. , Hemalatha Rajkumar
Published: January 2024

Introduction

Composite Index of Anthropometric Failure (CIAF) and its further modifications have not incorporated all the combinations of malnutrition. We propose a new model incorporating all the forms of malnutrition among children under five years of age. However, the current models might misclassify a growing child as malnourished. Our objective is to develop a comprehensive scoring system using the three anthropometric Z-scores [height-for-age (HAZ), weight-for-age (WAZ), and weight-for-height (WHZ) Z-scores] and demonstrate the proposed CIAF model using the National Family Health Survey-5 (NFHS-5) data from India.

Methods

A new scoring system was developed using the WAZ, HAZ, and WHZ scores to determine the child’s nutritional status. We also proposed a new CIAF model by including all possible categories of malnutrition and practically demonstrated it using the NFHS-5 dataset after applying the new scoring system. Under-five children with heights, weights, and ages available were included in the analysis. The groups of malnutrition are presented as weighted proportions before and after applying the new score to the proposed model.

Results

Our final analysis included individual-level data of 198,802 children under five years of age (weighted N = 195,197). After applying the new scoring system to the proposed model, the prevalence of stunting has reduced to 11.8% (95% CI 11.66–11.94) from 13.2% (95% CI 13.09–13.39) and wasting prevalence has reduced to 4.9% (95% CI 4.85–5.04) from 6.4% (95% CI 6.29–6.51). The most common forms of anthropometric failures among Indian children by using the newly developed CIAF model are: “Stunting and underweight” (30,127; 15.4%), Stunting only (23,035; 11.8%), and “wasting and underweight” (14,698; 7.5%). We found a new category called “Stunting, underweight, and overweight” (stunting = HAZ < −2SD, underweight = WAZ < −2SD, overweight = WHZ > +2SD). It constituted 0.1% (220 children) of the total sample.

Conclusion

When the new scoring system is applied to the proposed CIAF model, it captures all forms and combinations of malnutrition among under-five children without overlap and prevents misclassifying a growing child as malnourished. The newly identified category shows that stunting (HAZ < −2SD), overweight (WHZ > +2SD) and underweight (WAZ < −2SD) can co-exist in the same child.
Association between ischemic heart disease and dietary intake of lycopene: a case–control study
Authors: Amjadi Arezoo , Alami Farkhondeh , Mohammadian Mohammad Keshavarz , Mirshafaei Seyed Reza , Azaryan Fatemeh , Houshiar-Rad Anahita , Esmaeili Mina , Shekari Soheila , Abdollahi Morteza , Khoshdooz Sara , Ajami Marjan , Doaei Saeid , Gholamalizadeh Maryam
Published: January 2024

Aim

The effect of dietary lycopene on ischemic heart disease (IHD) is not clear. Hence, this study aimed to determine the association between dietary lycopene and IHD.

Methods

This case–control study was conducted on 443 patients with physician confirmed diagnosis of IHD as the case group and 443 healthy individuals as the control group. Data on demographic, medical history, anthropometric, and physical activity of the participants were collected. Food intake was evaluated using a 237-item semi-quantitative food frequency questionnaire (FFQ). The dietary intake of lycopene was assessed using Nutritionist IV software.

Results

A negative association was found between IHD and lycopene (OR: 0.98, CI 95%: 0.963–0.996, p = 0.02). The results remained significant after adjustment for age and sex, additional adjustment for dietary intake of calorie and fat, further adjustments for BMI, and additional adjustment for smoking, drinking alcohol, and physical activity. The risk of IHD in people with the highest quartile of dietary intake of lycopene was significantly lower than those with the lowest quartile (OR = 0.67, CI 95%: 0.46–0.97, p = 0.036).

Conclusion

There was a significant inverse relationship between intake of lycopene and IHD. Further prospective studies in different populations are required to elucidate the roles of lycopene against IHD.
Alterations in gut microbiota caused by major depressive disorder or a low FODMAP diet and where they overlap
Authors: O’Neill Simone , Minehan Michelle , Knight-Agarwal Catherine R. , Pyne David B.
Published: January 2024

Beneficial changes in microbiota observed in individuals with a major depressive disorder (MDD) may be initiated with a low fermentable oligosaccharide, disaccharide, monosaccharide, and polyol (FODMAP) elimination diet. Academic Search Ultimate, APA PsychINFO, Cochrane Library, MEDLINE, Scopus and Web of Science were searched for original research documenting differences in microbiota in MDD or changes with a low FODMAP diet in adults (age 18 years +). Studies with fecal microbiota, 16 s RNA sequencing and QIIME pipelines were included. Studies using antibiotics, probiotics, and medications such as antidepressants were excluded. Additionally, studies based on a single gender were excluded as gender impacts microbiota changes in MDD. Four studies addressed differences in microbiota with MDD and another four assessed shifts occurring with a low FODMAP diet. The abundance of Bacteroidetes, Bacteroidaceae and Bacteroides were lower in individuals with MDD but increased with a low FODMAP diet. Abundance of Ruminoccaceae was lower and Bilophila was higher with both a low FODMAP diet and MDD. These results provide preliminary evidence that a low FODMAP diet might drive changes in microbiota that also benefit people with MDD. Further research to assess whether a low FODMAP diet can treat MDD through modification of targeted microbiota is warranted.
Continuous glucose monitoring for automatic real-time assessment of eating events and nutrition: a scoping review
Authors: Brummer Julian , Glasbrenner Christina , Hechenbichler Figueroa Sieglinde , Koehler Karsten , Höchsmann Christoph
Published: January 2024

Background

Accurate dietary assessment remains a challenge, particularly in free-living settings. Continuous glucose monitoring (CGM) shows promise in optimizing the assessment and monitoring of ingestive activity (IA, i.e., consumption of calorie-containing foods/beverages), and it might enable administering dietary Just-In-Time Adaptive Interventions (JITAIs).

Objective

In a scoping review, we aimed to answer the following questions: (1) Which CGM approaches to automatically detect IA in (near-)real-time have been investigated? (2) How accurate are these approaches? (3) Can they be used in the context of JITAIs?

Methods

We systematically searched four databases until October 2023 and included publications in English or German that used CGM-based approaches for human (all ages) IA detection. Eligible publications included a ground-truth method as a comparator. We synthesized the evidence qualitatively and critically appraised publication quality.

Results

Of 1,561 potentially relevant publications identified, 19 publications (17 studies, total N = 311; for 2 studies, 2 publications each were relevant) were included. Most publications included individuals with diabetes, often using meal announcements and/or insulin boluses accompanying meals. Inpatient and free-living settings were used. CGM-only approaches and CGM combined with additional inputs were deployed. A broad range of algorithms was tested. Performance varied among the reviewed methods, ranging from unsatisfactory to excellent (e.g., 21% vs. 100% sensitivity). Detection times ranged from 9.0 to 45.0 min.

Conclusion

Several CGM-based approaches are promising for automatically detecting IA. However, response times need to be faster to enable JITAIs aimed at impacting acute IA. Methodological issues and overall heterogeneity among articles prevent recommending one single approach; specific cases will dictate the most suitable approach.
Establishment of a pathomic-based machine learning model to predict CD276 (B7-H3) expression in colon cancer
Authors: Li Jia , Wang Dongxu , Zhang Chenxin
Published: January 2024

CD276 is a promising prognostic indicator and an attractive therapeutic target in various malignancies. However, current methods for CD276 detection are time-consuming and expensive, limiting extensive studies and applications of CD276. We aimed to develop a pathomic model for CD276 prediction from H&E-stained pathological images, and explore the underlying mechanism of the pathomic features by associating the pathomic model with transcription profiles. A dataset of colon adenocarcinoma (COAD) patients was retrieved from the Cancer Genome Atlas (TCGA) database. The dataset was divided into the training and validation sets according to the ratio of 8:2 by a stratified sampling method. Using the gradient boosting machine (GBM) algorithm, we established a pathomic model to predict CD276 expression in COAD. Univariate and multivariate Cox regression analyses were conducted to assess the predictive performance of the pathomic model for overall survival in COAD. Gene Set Enrichment Analysis (GESA) was performed to explore the underlying biological mechanisms of the pathomic model. The pathomic model formed by three pathomic features for CD276 prediction showed an area under the curve (AUC) of 0.833 (95%CI: 0.784-0.882) in the training set and 0.758 (95%CI: 0.637-0.878) in the validation set, respectively. The calibration curves and Hosmer-Lemeshow goodness of fit test showed that the prediction probability of high/low expression of CD276 was in favorable agreement with the real situation in both the training and validation sets (P=0.176 and 0.255, respectively). The DCA curves suggested that the pathomic model acquired high clinical benefit. All the subjects were categorized into high pathomic score (PS) (PS-H) and low PS (PS-L) groups according to the cutoff value of PS. Univariate and multivariate Cox regression analysis indicated that PS was a risk factor for overall survival in COAD. Furthermore, through GESA analysis, we found several immune and inflammatory-related pathways and genes were associated with the pathomic model. We constructed a pathomics-based machine learning model for CD276 prediction directly from H&E-stained images in COAD. Through integrated analysis of the pathomic model and transcriptomics, the interpretability of the pathomic model provide a theoretical basis for further hypothesis and experimental research.
Case report: Rare presentation of double primary malignancies of the lung and thyroid: a difficult diagnosis
Authors: Chen Shun-Ping , Li Peng , Pan Yi-Fei , Jiang Xin
Published: January 2024

This report describes a rare case of double primary cancer in a female patient aged 49 years who died 2 years after diagnosis. The patient was diagnosed with BRAFV600E-mutant metastatic papillary thyroid carcinoma (PTC) and ALK fusion-positive metastatic lung adenocarcinoma. She presented with multifocal thyroid lesions and underwent radical thyroidectomy and bilateral cervical lymphadenectomy. Thyroid ultrasound revealed the presence of five hypoechoic nodules with irregular margins and microcalcifications; an irregular inhomogeneous hypoechoic level IV cervical lymph node was also found on the right side. Histological analysis confirmed the presence of metastatic PTC, and the tumor tested positive for the BRAFV600E mutation. Ultrasound of the neck, which was performed 4 months postdischarge, revealed enlargement of the left-sided cervical lymph nodes; a biopsy from these nodes confirmed a diagnosis of metastatic PTC. Positron emission tomography-computed tomography scans revealed the presence of multiple pulmonary hypermetabolic foci scattered across bilateral lung fields. Multiple hypermetabolic foci were also observed in the lymph nodes on both sides of the neck, axillae, and mediastinum; in addition, there was evidence of bone destruction with hypermetabolic foci. Supplementary reports from the histological and immunohistochemical analyses of cervical lymph node tissue obtained during primary surgery confirmed the presence of metastatic PTC and poorly differentiated lung adenocarcinoma. In particular, one enlarged cervical lymph node located on the right side of the neck demonstrated tumor components of both PTC and lung adenocarcinoma. Pathological analysis of axillary lymph node puncture biopsy confirmed the presence of metastatic lung adenocarcinoma, and gene analysis revealed the presence of ALK fusion. The patient received targeted therapy based on a multidisciplinary discussion. However, she had a poor prognosis and died 2 years after the diagnosis. The initial thyroid ultrasound findings were reviewed retrospectively; the findings suggested that the possibility of double primary cancers should be considered in cases where the enlarged cervical lymph nodes are highly suspicious of PTC and present as inhomogeneous hypoechoic masses with irregular morphology.
Associations between genetic variants in sphingolipid metabolism pathway genes and hepatitis B virus-related hepatocellular carcinoma survival
Authors: Jiang Binbin , Qiu Moqin , Qin Liming , Tang Jingmei , Zhan Shicheng , Lin Qiuling , Wei Junjie , Liu Yingchun , Zhou Zihan , Liang Xiumei , Cao Ji , Lian Jiawei , Mai Yuejiao , Jiang Yanji , Yu Hongping
Published: January 2024

Background

Although the sphingolipid metabolism pathway is known to play a significant role in tumor progression, there have been few studies on how genetic variants in the sphingolipid metabolism pathway genes affect the survival of patients with hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC).

Methods

We utilized available genotyping data to conduct multivariate Cox proportional hazards regression model analysis, examining the associations of 12,188 single nucleotide polymorphisms (SNPs) in 86 sphingolipid metabolism pathway genes on the survival of 866 HBV-HCC patients, and the model was also used in additive interaction analysis. We used bioinformatics functional prediction and expression quantitative trait locus (eQTL) analysis to explore the potential functions of SNPs and to evaluate the association of SNPs with the corresponding mRNA expression, respectively. We also used the online database TIMER2.0 (http://timer.comp-genomics.org/) to analyze the relationship between the corresponding mRNA expression levels and immune cell infiltration.

Results

Our study found that GBA2 rs1570247 G>A was significantly associated with elevated survival of HBV-HCC patients [(hazards ratio (HR)=0.74, 95% confidence interval (CI)=0.64-0.86, P<0.001)]. And on an additive scale, a synergistic effect was observed between the GG genotype of rs1570247 and advanced BCLC stage. Among HBV-HCC patients with advanced BCLC stage, those carrying the GBA2 rs1570247 GG genotype exhibited a significantly elevated risk of mortality (HR=3.32, 95%CI=2.45-4.50). Further functional prediction and eQTL analysis revealed that rs1570247 were located in the 5’ untranslated region of the GBA2, the A allele of SNP rs1570247 was associated with higher mRNA expression levels of GBA2 in normal liver tissues (P=0.009). Moreover, we observed a positive correlation between GBA2 mRNA expression and the infiltration level of B lymphocytes cell (R=0.331, P<0.001), while a negative correlation was noted between GBA2 mRNA expression and the infiltration level of macrophage M2 in HCC (R=-0.383, P<0.001).

Conclusion

Our findings suggest that GBA2 rs1570247 G>A in sphingolipid metabolism pathway may be a key factor for survival of HBV-HCC patients by regulating the expression of corresponding genes and affecting the infiltration level of immune cells.
Vats lobectomy for lung cancer. What has been the evolution over the time?
Authors: Re Cecconi Emanuela , Mangiameli Giuseppe , De Simone Matilde , Cioffi Ugo , Marulli Giuseppe , Testori Alberto
Published: January 2024

Video assisted thoracic surgery (VATS) lobectomy is the treatment of choice for early-stage lung cancer. It is safe and effective compared to open surgery, as demonstrated by a large body of scientific evidence over the last few decades. VATS lobectomy’s evolution was driven by the need to decrease post-operative pain by reducing the extent of surgical accesses, maintaining the same oncological efficacy of open lobectomy with less invasiveness. VATS lobectomy just turned 30 years old, evolving and changing significantly from its origins. The aim of this mini review is to retrace the history, starting from a multiport approach to a single port approach. At the end of this mini review, we will discuss the advanced and the future challenges of the technique that has revolutionized thoracic surgery.
Pharyngeal reconstruction after total laryngectomy with sliding epiglottis: technical aspects with retrospective review
Authors: Grošelj Aleš , Tancer Ivana , Jerman Anže , Paučič Jošt , Pušnik Luka
Published: January 2024

Introduction

Several techniques have been employed for defect reconstruction after total laryngectomy, among others sliding epiglottoplasty. As there is a paucity of data on sliding epiglottoplasty after total laryngectomy, this study aimed to present this reconstruction technique in detail with the retrospective analysis of the patients.

Methods

We retrospectively reviewed single-center medical records of patients who underwent pharyngeal reconstruction after total laryngectomy between 2007-2013, with a follow-up to 2020. The study included patients who had total laryngectomy performed followed by a primary closure or sliding epiglottoplasty. The patients were divided according to the pharyngeal reconstruction technique: sliding epiglottis (n = 38) and primary closure (n = 120).

Results

The baseline characteristics of patients, TNM stages, and previous treatment strategies did not differ significantly between the sliding epiglottis and primary closure group. The postoperative complication rates, including the pharyngocutaneous fistulae formation and strictures were comparable between the analyzed groups; however, a slightly higher incidence of pharyngocutaneus fistulae was noted within the patients after sliding epiglottoplasty. Overall 3-year survival of patients who underwent the epiglottoplasty and primary closure group were 73.7% vs. 57.5%, respectively.

Conclusions

Sliding epiglottoplasty is considered a safe reconstruction technique. Although slightly better outcomes were noted within the epiglottoplasty group, it is still considered inferior to the primary closure. This technique ought to be considered in meticulously selected patients in whom primary closure is not feasible, epiglottis with nearby structures is spared from disease, and when the distal flaps are less appropriate or contraindicated.
Case report: Stereotactic MR-guided adaptive radiotherapy for inoperable urothelial carcinoma at the renal pelvis
Authors: Thaweerat Wajana , Dankulchai Pittaya
Published: January 2024

We report the case of an 87-year-old woman with upper tract urothelial carcinoma at the left renal pelvis. She received stereotactic body radiotherapy of 35 Gy in five fractions for palliative treatment of hematuria that was delivered by a 1.5-T magnetic resonance (MR) imaging-guided linear accelerator. Her symptom was relieved after treatment, and posttreatment imaging revealed a complete response of the primary tumor. Thus, this case showed that stereotactic MR-guided radiotherapy could be an appealing option for inoperable patients although radiotherapy is infrequently mentioned in the current treatment guideline of upper tract urothelial carcinoma. Daily adaptive planning from MR images obtained before treatment could improve the target dose and minimize the organ at risk dose. This may lead to a decrease in radiation adverse effects including worsening renal function due to the renal pelvis tumor’s proximity to the kidney.
Case report: Benign and malignant tumors in adult patients with neurofibromatosis type 1: a comprehensive case series from a large oncologic reference center
Authors: Vidal-Millan Silvia , Zatarain-Barrón Zyanya Lucia , Daza-Galicia Kena , Shveid Gerson Daniela , Pichardo-Rojas Pavel Salvador , Salazar-Pigeon Alejandro , Wegman-Ostrosky Talia
Published: January 2024

Purpose

Neurofibromatosis type 1 (NF1) is a complex, multisystem disorder that is characterized, among other features, by a higher risk of developing benign and malignant tumors. Despite NF1 being one of the most common autosomal dominant genetic disorders, data from adult individuals in several world regions remain elusive, including Hispanics.

Methods

The present is a retrospective cohort study conducted among adult patients with a confirmed diagnosis of NF1 who attended a single cancer-reference center, the Instituto Nacional de Cancerología in Mexico City from 2001 to 2021. Data were extracted from electronic health records and collected in an anonymous database by an NF1-expert physician in order to obtain demographic characteristics and detailed information regarding the development of tumors among this patient subgroup. All patients with malignant tumors or with benign tumors, which severely affected their quality of life, were included in this study.

Results

Patient records were reviewed from 2001 to 2021. A total of N = 29 patients met the criteria, with a higher proportion of female compared with male subjects [N = 22 (75.9%) vs. N = 7 (24.1%)]. Patients had a mean age at diagnosis of tumors of 32.2 years (SD = 11.2 years). In terms of malignant neoplasms, the most frequent malignant tumor presented by patients in this cohort was malignant peripheral nerve sheath tumors (N = 7, 24.1%), this was followed by breast cancer (n = 4, 13.8% among all patients, 18.2% among female patients). Other tumors also identified in this cohort included melanoma, gastrointestinal stromal tumors, and rectal cancer.

Conclusion

In Mexico, patients diagnosed with NF1 develop diverse tumors as adults. As described in other studies, the most frequent malignant tumor in this patient population is the malignant peripheral nerve sheath tumor. Further studies are required to increase the scarce information available for adult Hispanics with NF1.
A real-world study of PARP inhibitors in 75 patients with platinum-sensitive recurrent ovarian cancer from China
Authors: Chen Jinghong , Zhang Mengpei , Li Kemin , Duan Yuanqiong , Lin Xiaojuan , Zhong Lan , Li Qintong , Yin Rutie
Published: January 2024

Objective

The aim of this study is to assess the efficacy and safety of poly (ADP-ribose) polymerase inhibitor (PARPi) as a maintenance therapy for patients with platinum-sensitive recurrent epithelial ovarian cancer (PSROC) at the largest center of gynecologic oncology in Western China.

Patients and methods

The efficacy of PARPi was evaluated by progression-free survival (PFS) and overall survival (OS) in this real-world single-center retrospective cohort study conducted at West China Second University Hospital. The safety of PARPi was assessed using Common Terminology Criteria for Adverse Events Version 5.0.

Results

In this study, we included a total of 75 eligible patients, of which 54 (72.0%) received olaparib and 21 (28.0%) received niraparib. Among these patients, 24 (32.0%) had breast cancer susceptibility gene (BRCA) mutations, 27 (36.0%) achieved complete response after their last platinum-based therapy, and 22 (29.3%) had previously received ≥3rd-line chemotherapy. The median progression-free survival (mPFS) was 19.1 months (95% CI 8.5-29.7), and the median overall survival (mOS) had not been reached. Log-rank analysis revealed that age (<65 years old V.S. ≥65 years old) and previous lines of chemotherapy (2nd-line V.S. 3rd-line V.S. ≥4th-line) were associated with prolonged PFS (P <0.05). However, multivariate COX regression analysis did not identify any independent factors associated with prognosis (P >0.05). The most common grade≥3 adverse events in the olaparib group were anemia, thrombocytopenia, and leukopenia, while in the niraparib group, they were anemia and thrombocytopenia.

Conclusion

This study confirmed that olaparib and niraparib are effective and tolerate for PSROC in real-world settings. At the follow-up endpoint, no independent prognostic factor associated with prolonged PFS was identified.
Heritability of nervous system tumors: a sibling-based design
Authors: Tettamanti Giorgio , Kuja-Halkola Ralf , Lavebratt Catharina , Talbäck Mats , Viktorin Alexander , Scheurer Michael E. , Feychting Maria , Adel Fahmideh Maral
Published: January 2024

Background

The contribution of genetic and environmental factors to susceptibility to nervous system tumors remains unclear. We performed a quantitative genetic study using a sibling design to estimate the heritability of nervous system tumors, as well as the proportion of the risk of these tumors, which is attributable to environmental factors.

Methods

We conducted a population-based cohort study using Swedish National Register data. All individuals born in Sweden during 1950–2010 with available information on both biological parents were included. A Multi-Generation Register was used to identify family clusters, including both full- and half-siblings. Initially, one index person was randomly selected from each cluster containing only full siblings and one sibling was randomly assigned to this index person. Subsequently, within each of the remaining clusters of full- and half-siblings, an index person was randomly selected, and a half-sibling was randomly assigned to this index person. Among the randomly selected siblings, cases of nervous system tumors were identified using the cancer registry. Quantitative genetic models were used to estimate the proportion of the variance in nervous system tumors attributable to additive genetic factors, shared environment, and individual-specific environment.

Results

The heritability of nervous system tumors was estimated to be 29% (95% confidence interval (CI) = 19%–39%), while the contribution of the non-shared environment to the variance of nervous system tumors was estimated to be 71% (95% CI = 61%–81%). The shared environmental parameter was estimated as zero in the full model.

Conclusion

The variation in susceptibility to nervous system tumors is predominantly attributable to non-shared environmental factors, followed by genetic factors.
Differential behavioral response to predator odor in neuropathic pain in mice
Authors: Natsi Amalia , Valkanou Mary , Anousi Elissavet , Labrakakis Charalampos
Published: January 2024

Neuropathic pain, a type of chronic pain caused by injury or disease of the somatosensory system, affects ∼10% of the general population and is difficult to treat. It is strongly associated with mood disorder comorbidities and impairs quality of life. It was recently suggested that hypervigilance caused by chronic pain might be of advantage in some species, helping them avoid predators during injury when they are most vulnerable. Here, we sought to confirm the hypervigilance hypothesis by using two predator odor (PO) paradigms, one with transient and one with continuous odor presentation. We observed behavioral responses to PO in neuropathic and control mice in an open field setting. We find that neuropathic mice show hypervigilance to PO, confirming previous results. However, we also find increased anxiety responses to neutral odor in neuropathic mice, which manifests as maladaptive pain. This demonstrates that this maladaptive nature of pain could be an evolutionary adaptation aimed at reducing injury-induced vulnerability.
Case report: Suspected transfusion-related acute lung injury type II in a child with refractory systemic juvenile idiopathic arthritis complicated by macrophage activation syndrome
Authors: Gagro Alenka , Tomičić Maja , Škarić Ivančica , Dawidowsky Barbara
Published: January 2024

Introduction

Transfusion-related acute lung injury is a rare but potentially fatal complication, which may appear during or post-transfusion of blood products. Patients with macrophage activation syndrome, a serious life-threatening complication associated with systemic juvenile idiopathic arthritis, often require transfusion or administration of blood products for correction of cytopenia, coagulopathy and hypofibrinogenemia.

Case report

A 6-year-old girl with a past medical history of systemic juvenile idiopathic arthritis had the first relapse of the disease during which she developed macrophage activation syndrome. During this life-threatening complication, she received a second dose of whole blood derived filtered and irradiated platelets from a single male donor due to profound thrombocytopenia. Approximately one hour post-infusion, the patient developed progressive dyspnea, hypoxemia and bilateral pulmonary edema. She was promptly intubated and placed on mechanical ventilation for 40 h. Clinical, laboratory and radiological findings, as well as the success of supportive ventilation therapy were highly suggestive of transfusion-related acute lung injury, a life-threatening complication that occurs within six hours of blood component transfusion. Blood immunology showed no presence of anti-human neutrophil antigen and anti-leukocyte antigen class I and class II antibodies in the donor's or patient's plasma.

Conclusion

To the best of our knowledge, we report the first case of a child with systemic juvenile idiopathic arthritis complicated with macrophage activation syndrome who developed type II transfusion-related acute lung injury following platelet transfusion. It is important to consider transfusion-related acute lung injury in transfusion settings in these children and apply critical and restrictive approach for platelet transfusion.
Case report: Fibrotic interstitial lung disease as the initial manifestation of hereditary pulmonary alveolar proteinosis caused by CSF2RB mutation
Authors: Li Qiuhong , Xie Huikang , Li Manhui , Cheng Kebin
Published: January 2024

A 50-year-old male was admitted to the hospital with a 3-year history of dyspnea and cough. Chest high-resolution computed tomography (HRCT) did not show typical features of pulmonary alveolar proteinosis (PAP), but rather atypical features of interstitial lung disease with fibrosis. The diagnosis of PAP was confirmed through transbronchial lung cryobiopsy. Whole exome sequencing identified a rare homozygous frame shift mutation (c.304_305del:p.S102Ffs*5) in exon 3 of the CSF2RB gene in our patient. This case represents a rare occurrence of fibrotic interstitial lung disease in PAP.