bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Authors: Justel Maria , Jou Cristina , Sariego-Jamardo Andrea , Juliá-Palacios Natalia Alexandra , Ortez Carlos , Poch Maria Luisa , Hedrera-Fernandez Antonio , Gomez-Martin Hilario , Codina Anna , Dominguez-Carral Jana , Muxart Jordi , Hernández-Laín Aurelio , Vila-Bedmar Sara , Zulaica Miren , Cancho-Candela Ramon , Castro Margarita del Carmen , de la Osa-Langreo Alberto , Peña-Valenceja Alfonso , Marcos-Vadillo Elena , Prieto-Matos Pablo , Pascual-Pascual Samuel Ignacio , López de Munain Adolfo , Camacho Ana , Estevez-Arias Berta , Musokhranova Uliana , Olivella Mireia , Oyarzábal Alfonso , Jimenez-Mallebrera Cecilia , Domínguez-González Cristina , Nascimento Andrés , García-Cazorla Àngels , Natera-de Benito Daniel 
Published: May 2023

BackgroundLimb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by muscle weakness and intellectual disability.MethodsA clinical and histopathological characterisation of 25 Roma individuals with LGMD R18 caused by the homozygousTRAPPC11c.1287+5G>A variant is reported. Functional effects of the variant on mitochondrial function were investigated.ResultsThe c.1287+5G>A variant leads to a phenotype characterised by early onset muscle weakness, movement disorder, intellectual disability and elevated serum creatine kinase, which is similar to other series. As novel clinical findings, we found that microcephaly is almost universal and that infections in the first years of life seem to act as triggers for a psychomotor regression and onset of seizures in several individuals withTRAPPC11variants, who showed pseudometabolic crises triggered by infections. Our functional studies expanded the role of TRAPPC11 deficiency in mitochondrial function, as a decreased mitochondrial ATP production capacity and alterations in the mitochondrial network architecture were detected.ConclusionWe provide a comprehensive phenotypic characterisation of the pathogenic variantTRAPPC11c.1287+5G>A, which is founder in the Roma population. Our observations indicate that some typical features of golgipathies, such as microcephaly and clinical decompensation associated with infections, are prevalent in individuals with LGMD R18.
Advancements in super-selective catheterization and drug selection for intra-arterial chemotherapy for retinoblastoma: a 15-year evolution
Authors: Kocharian Gary , Gobin Y Pierre , Kharas Natasha , Knopman Jared , Francis Jasmine H , Abramson David H 
Published: May 2023

BackgroundRetinoblastoma (Rb) is the most common primary ocular malignancy of childhood. Left untreated, it is 100% fatal and carries a substantial risk of impaired vision and removal of one or both eyes. Intra-arterial chemotherapy (IAC) has become a pillar in the treatment paradigm for Rb that allows for better eye salvage and vision preservation without compromising survival. We describe the evolution of our technique over 15 years.MethodsA retrospective chart review was conducted of 571 patients (697 eyes) and 2391 successful IAC sessions over 15 years. This cohort was separated into three 5-year periods (P1, P2, P3) to assess trends in IAC catheterization technique, complications, and drug delivery.ResultsFrom a total of 2402 attempted IAC sessions, there were 2391 successful IAC deliveries, consistent with a 99.5% success rate. The rate of successful super-selective catheterizations over the three periods ranged from 80% in P1 to 84.9% in P2 and 89.2% in P3. Catheterization-related complication rates were 0.7% in P1, 1.1% in P2, and 0.6% in P3. Chemotherapeutics used included combinations of melphalan, topotecan and carboplatin. The rate of patients receiving triple therapy among all groups was 128 (21%) in P1, 487 (41.9%) in P2, and 413 (66.7%) in P3.ConclusionsThe overall rate of successful catheterization and IAC started high and has improved over 15 years, and catheterization-related complications are rare. There has been a significant trend towards triple chemotherapy over time.
Drone monitoring of volcanic lakes in Costa Rica: a new approach
Authors: Sibaja-Brenes José P. , Terada Akihiko , Solís Rosa Alfaro , Luna Mario Cambronero , Castro Danilo Umaña , Ramírez Daniel Porras , Gutiérrez Rolando Sánchez , Arroyo Mariela Martínez , Godfrey Ian , Cruz María Martínez 
Published: May 2023

For the first time ever, samples were collected from volcanic lake waters in Costa Rica using an unmanned aerial vehicle (drone), which represents a major achievement in human–machine interaction and innovation in the technology sector. A Matrice 600 Pro drone was used for remote sampling in the hyperacid crater lake of the Poás volcano, the mildly acidic Lake Botos, and the nearly neutral Lake Hule. A bailer bottle of 250 mL and a HOBO temperature probe, mounted on the drone, were deployed using a specially designed delivery retrieval system. A comparison was carried out relating to the geochemistry of lake water collected by drone as opposed to the hand-collected samples. The SO4−2/Cl ratios of the two samples at Poás hyperacid crater lake were similar, (1.1 ± 0.2) on average, an indication of a lake with homogenous water composition. The Lake Hule showed a similar composition to that registered 20 years ago. The waters from Lake Botos showed some differences, which may be explained by the influence of springs at the bottom of the lake, but the Wilcoxon's signed-rank test showed a good exhibit of a satisfactory level of similarity. Autonomous navigation proves to be very useful for faster, more efficient, reliable, and less hazardous sampling of volcanic lakes.
Hot spot model of nucleon and double parton scattering
Authors: Blok B. , Segev R. , Strikman M. 
Published: May 2023

AbstractWe calculate the rate of double parton scattering (DPS) in proton-proton collisions in the framework of the recently proposed hot spot model of the nucleon structure. The resulting rate, especially for the case of three hot spots, is compared with the current experimental data on DPS at the LHC.
Acetylation of Cellulose Nanocrystals Extracted from Cotton for Drilling Fluid Application: Structural and Thermal Characterization
Authors: Benchikh Lilia , Yazid Aitferhat , Maya Kebaili , Hichem Chorfi , Ilyes Abacha , Melia Guessoum , Abdelhafid Merzougui , Mohamed Benia Hadj , Yves Grohens 
Published: May 2023

In petroleum exploration, cellulose derivatives such as carboxymethylcellulose (CMC) are frequently used in drilling, cementing and fracturing fluids. However, under extreme drilling conditions, these additives have limited performance. In this regard, cellulose nanocrystals particles (CNCs) which are also derived from cellulose material are a suitable candidate due to their shear thinning rheology and thixotropy properties, even at low concentrations, among so many properties thanks to their crystalline structure and their nanometric dimensions.In this work, hydrolyzed fibers from industrial cotton are acetylated using acetic anhydride and sulfuric acid as catalysts, with the aim to modify surface properties of the obtained CNCs without changing their fiber structure and morphology. FTIR analysis pointed out the acetylation success of the obtained nanocrystals whose dimensions were found to be unaltered by the modification process. SEM images of cotton nanocrystal indicate that CNCcsurface modification preserves the nanoscale dimensions of the nanoparticles. Also, TGA analysis showed thermal stability for the acetylated CNCc.
Privacy-Preserving SGD on Shuffle Model
Authors: Zhang Lingjie , Zhang Hai 
Published: May 2023

In this paper, we consider an exceptional study of differentially private stochastic gradient descent (SGD) algorithms in the stochastic convex optimization (SCO). The majority of the existing literature requires that the losses have additional assumptions, such as the loss functions with Lipschitz, smooth and strongly convex, and uniformly bounded of the model parameters, or focus on the Euclidean (i.e.

l

2

d

) setting. However, these restrictive requirements exclude many popular losses, including the absolute loss and the hinge loss. By loosening the restrictions, we proposed two differentially private SGD without shuffle model and with shuffle model algorithms (in short, DP-SGD-NOS and DP-SGD-S) for the

α
,
L

-Hölder smooth loss by adding calibrated Laplace noise under no shuffling scheme and shuffling scheme in the

l

p

d

-setting for

p
∈

1,2

. We provide privacy guarantees by using advanced composition and privacy amplification techniques. We also analyze the convergence bounds of the DP-SGD-NOS and DP-SGD-S and obtain the optimal excess population risks

O

1
/

n

+

d

log

1
/
δ

/

n
ϵ

and

O

1
/

n

+

d

log

1
/
δ

log

n
/
δ

/

n

4
+
α

/

2

1
+
α

ϵ

up to logarithmic factors with gradient complexity

O

n

2
−
α
/
1
+
α

+
n

. It turns out that the optimal utility bound with the shuffle model is superior to the bound without the shuffle model, which is consistent with the previous work. In addition, the DP-SGD-S achieves the optimal utility bound with the

O

n

gradient computations of linearity for

α
≥
1
/
2

. There is a significant tradeoff between

α
,
L

-Hölder smooth losses and gradient complexity for differential privacy of SGD without shuffle model and with shuffle model.
Potential of Chinese Yam (Dioscorea polystachya Turczaninow) By-Product as a Feed Additive in Largemouth Bass (Micropterus salmoides): Turning Waste into Valuable Resources
Authors: Chen Mingshi , Liu Yang , Bao Xiaoxue , Yue Yuhua , Tong Binbin , Yang Xionghui , Yu Hui , Yang Ying , Liu Yuhong , Yu Yingying 
Published: May 2023

Chinese yam (Dioscorea polystachya Turczaninow) by-product produced in the water extraction process is commonly directly discarded resulting in a waste of resources and environmental pollution. However, the value of Chinese yam by-product which still contains effective ingredients is far from being fully realized; hence, it has the potential to be a safe and effective feed additive in aquaculture. To investigate the impacts of Chinese yam by-product on growth performance, antioxidant ability, histomorphology, and intestinal microbiota of Micropterus salmoides, juvenile fish (initial weight 1

3.16
±
0.05

g) were fed diets supplemented with 0% (control), 0.1% (S1), 0.4% (S2), and 1.6% (S3) of Chinese yam by-product for 60 days. The results showed that no significant difference was found in weight gain, specific growth rate, and survival among all the experimental groups (

P
>
0.05

). Feed conversion ratios of the S1 and S3 groups were significantly lower than those in the control group (

P
<
0.05

). SOD activity of the S3 group and GSH contents of Chinese yam by-product groups were significantly higher than those in the control group (

P
<
0.05

). MDA levels of the S2 and S3 groups were significantly lower than those in the control group and the S1 group (

P
<
0.05

). Besides, Chinese yam by-product could protect liver and intestine health, as well as increase the abundance of beneficial bacteria and decrease the abundance of potential pathogens. This study suggests that Chinese yam by-product has the potential to be used as a functional feed additive in aquaculture, providing a reference for efficient recovery and utilization of by-products from plant sources during processing and culturing high-quality aquatic products.
The mTOR Signaling Pathway Interacts with the ER Stress Response and the Unfolded Protein Response in Cancer
Authors: Mafi Sahar , Ahmadi Elham , Meehan Eileen , Chiari Conner , Mansoori Behzad , Sadeghi Hossein , Milani Sahar , Jafarinia Morteza , Taeb Shahram , Mafakheri Bashmagh Bayan , Mansoorian Seyed Mohammad Ali , Soltani-Zangbar Mohammad Sadegh , Wang Kepeng , Rostamzadeh Davoud 
Published: May 2023

Abstract
The mTOR complex 1 (mTORC1) coordinates several important environmental and intracellular cues to control a variety of biological processes, such as cell growth, survival, autophagy, and metabolism, in response to energy levels, growth signals, and nutrients. The endoplasmic reticulum (ER) is a crucial intracellular organelle that is essential for numerous cellular functions, including the synthesis, folding, and modification of newly synthesized proteins, stress responsiveness, and maintainence of cellular homeostasis. mTOR-mediated upregulation of protein synthesis induces the accumulation of misfolded or unfolded proteins in the ER lumen, which induces ER stress, leading to activation of the unfolded protein response (UPR) pathway. Reciprocally, ER stress regulates the PI3K/AKT/mTOR signaling pathway. Therefore, under pathologic conditions, the cross-talk between the mTOR and UPR signaling pathways during cellular stress can critically affect cancer cell fate and may be involved in the pathogenesis and therapeutic outcome of cancer. Here, we discuss accumulating evidence showing the mechanism of action, interconnections, and molecular links between mTOR signaling and ER stress in tumorigenesis and highlights potential therapeutic implications for numerous cancers.
Sleep Behaviors, Genetic Predispositions, and Risk of Esophageal Cancer
Authors: Wang Xiaoyan , Tian Ruiyi , Zong Xiaoyu , Jeon Myung Sik , Luo Jingqin , Colditz Graham A. , Wang Jean S. , Tsilidis Konstantinos K. , Ju Yo-El S. , Govindan Ramaswamy , Puri Varun , Cao Yin 
Published: May 2023

Abstract

Background:
Risk factors contributing to more than 10-fold increase in esophageal cancer in the last 50 years remain underexplored. We aim to examine the associations of sleep behaviors with esophageal adenocarcinoma (EAC) and squamous cell carcinoma (ESCC).

Methods:
We prospectively assessed the associations between sleep behaviors (chronotype, duration, daytime napping, daytime sleepiness, snoring, and insomnia) and EAC and ESCC risk in 393,114 participants in the UK Biobank (2006–2016). Participants with 0, 1, and ≥2 unhealthy behaviors, including sleep &lt;6 or &gt;9 h/d, daytime napping, and usual daytime sleepiness were classified as having a good, intermediate, and poor sleep. For EAC, we also examined interactions with polygenic risk score (PRS). Cox models were used to estimate hazard ratios (HR) and 95% confidence intervals (CI).

Results:
We documented 294 incident EAC and 95 ESCC. Sleep &gt;9 h/d (HR, 2.05; 95% CI, 1.18–3.57) and sometimes daytime napping (HR, 1.36; 95% CI, 1.06–1.75) were individually associated with increased EAC risk. Compared with individuals with good sleep, those with intermediate sleep had a 47% (HR, 1.47; 95% CI, 1.13–1.91) increased EAC risk, and those with poor sleep showed an 87% (HR, 1.87; 95% CI, 1.24–2.82) higher risk (Ptrend &lt; 0.001). The elevated risks for EAC were similar within strata of PRS (Pinteraction = 0.884). Evening chronotype was associated with elevated risk of ESCC diagnosed after 2 years of enrollment (HR, 2.79; 95% CI, 1.32–5.88).

Conclusions:
Unhealthy sleep behaviors were associated with an increased risk of EAC, independent of genetic risk.

Impact:
Sleep behaviors may serve as modifiable factors for the prevention of EAC.
A Multiparameter Molecular Classifier to Predict Response to Neoadjuvant Lapatinib plus Trastuzumab without Chemotherapy in HER2+ Breast Cancer
Authors: Veeraraghavan Jamunarani , Gutierrez Carolina , De Angelis Carmine , Davis Robert , Wang Tao , Pascual Tomas , Selenica Pier , Sanchez Katherine , Nitta Hiroaki , Kapadia Monesh , Pavlick Anne C. , Galvan Patricia , Rexer Brent , Forero-Torres Andres , Nanda Rita , Storniolo Anna M. , Krop Ian E. , Goetz Matthew P. , Nangia Julie R. , Wolff Antonio C. , Weigelt Britta , Reis-Filho Jorge S. , Hilsenbeck Susan G. , Prat Aleix , Osborne C. Kent , Schiff Rachel , Rimawi Mothaffar F. 
Published: May 2023

Abstract

Purpose:
Clinical trials reported 25% to 30% pathologic complete response (pCR) rates in HER2+ patients with breast cancer treated with anti-HER2 therapies without chemotherapy. We hypothesize that a multiparameter classifier can identify patients with HER2-“addicted” tumors who may benefit from a chemotherapy-sparing strategy.

Experimental Design:
Baseline HER2+ breast cancer specimens from the TBCRC023 and PAMELA trials, which included neoadjuvant treatment with lapatinib and trastuzumab, were used. In the case of estrogen receptor–positive (ER+) tumors, endocrine therapy was also administered. HER2 protein and gene amplification (ratio), HER2-enriched (HER2-E), and PIK3CA mutation status were assessed by dual gene protein assay (GPA), research-based PAM50, and targeted DNA-sequencing. GPA cutoffs and classifier of response were constructed in TBCRC023 using a decision tree algorithm, then validated in PAMELA.

Results:
In TBCRC023, 72 breast cancer specimens had GPA, PAM50, and sequencing data, of which 15 had pCR. Recursive partitioning identified cutoffs of HER2 ratio ≥ 4.6 and %3+ IHC staining ≥ 97.5%. With PAM50 and sequencing data, the model added HER2-E and PIK3CA wild-type (WT). For clinical implementation, the classifier was locked as HER2 ratio ≥ 4.5, %3+ IHC staining ≥ 90%, and PIK3CA-WT and HER2-E, yielding 55% and 94% positive (PPV) and negative (NPV) predictive values, respectively. Independent validation using 44 PAMELA cases with all three biomarkers yielded 47% PPV and 82% NPV. Importantly, our classifier's high NPV signifies its strength in accurately identifying patients who may not be good candidates for treatment deescalation.

Conclusions:
Our multiparameter classifier differentially identifies patients who may benefit from HER2-targeted therapy alone from those who need chemotherapy and predicts pCR to anti-HER2 therapy alone comparable with chemotherapy plus dual anti-HER2 therapy in unselected patients.
An Oncolytic Poxvirus Encoding hNIS, Shows Antitumor Efficacy and Allows Tumor Imaging in a Liver Cancer Model
Authors: Chaurasiya Shyambabu , Valencia Hannah , Zhang Zhifang , Kim Sang-In , Yang Annie , Lu Jianming , Woo Yanghee , Warner Susanne G. , Ede Nicholas J. , Fong Yuman 
Published: May 2023

Abstract
Oncolytic viruses (OV) are live viruses that can selectively replicate in cancer cells. We have engineered an OV (CF33) to make it cancer-selective through the deletion of its J2R (thymidine kinase) gene. In addition, this virus has been armed with a reporter gene, human sodium iodide symporter (hNIS), to facilitate noninvasive imaging of tumors using PET. In this study, we evaluated the oncolytic properties of the virus (CF33-hNIS) in liver cancer model, and its usefulness in tumor imaging. The virus was found to efficiently kill liver cancer cells and the virus-mediated cell death exhibited characteristics of immunogenic death based on the analysis of 3 damage-associated molecular patterns: calreticulin, ATP, and high mobility group box-1. Furthermore, local or systemic administration of a single dose of the virus showed antitumor efficacy against a liver cancer xenograft model in mice and significantly increased survival of treated mice. Finally, PET scanning was performed following injection of the radioisotope I-124, for imaging of tumors, and a single dose of virus as low as 1E03 pfu, administered intra-tumorally or intravenously, allowed for PET imaging of tumors. In conclusion, CF33-hNIS is safe and effective in controlling human tumor xenografts in nude mice, and it also facilitates noninvasive imaging of tumors.
KIDS SAVE LIVES: Basic Life Support Education for Schoolchildren: A Narrative Review and Scientific Statement From the International Liaison Committee on Resuscitation
Authors: Schroeder Daniel C. , Semeraro Federico , Greif Robert , Bray Janet , Morley Peter , Parr Michael , Kondo Nakagawa Naomi , Iwami Taku , Finke Simon-Richard , Malta Hansen Carolina , Lockey Andrew , Del Rios Marina , Bhanji Farhan , Sasson Comilla , Schexnayder Stephen M. , Scquizzato Tommaso , Wetsch Wolfgang A. , Böttiger Bernd W. ,   on behalf of the International Liaison Committee on Resuscitation
Published: May 2023

Background:
Basic life support education for schoolchildren has become a key initiative to increase bystander cardiopulmonary resuscitation rates. Our objective was to review the existing literature on teaching schoolchildren basic life support to identify the best practices to provide basic life support training in schoolchildren.

Methods:
After topics and subgroups were defined, a comprehensive literature search was conducted. Systematic reviews and controlled and uncontrolled prospective and retrospective studies containing data on students <20 years of age were included.

Results:
Schoolchildren are highly motivated to learn basic life support. The CHECK-CALL-COMPRESS algorithm is recommended for all schoolchildren. Regular training in basic life support regardless of age consolidates long-term skills. Young children from 4 years of age are able to assess the first links in the chain of survival. By 10 to 12 years of age, effective chest compression depths and ventilation volumes can be achieved on training manikins. A combination of theoretical and practical training is recommended. Schoolteachers serve as effective basic life support instructors. Schoolchildren also serve as multipliers by passing on basic life support skills to others. The use of age-appropriate social media tools for teaching is a promising approach for schoolchildren of all ages.

Conclusions:
Schoolchildren basic life support training has the potential to educate whole generations to respond to cardiac arrest and to increase survival after out-of-hospital cardiac arrest. Comprehensive legislation, curricula, and scientific assessment are crucial to further develop the education of schoolchildren in basic life support.