bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Authors: Martinez-Cayuelas Elena , Blanco-Kelly Fiona , Lopez-Grondona Fermina , Swafiri Saoud Tahsin , Lopez-Rodriguez Rosario , Losada-Del Pozo Rebeca , Mahillo-Fernandez Ignacio , Moreno Beatriz , Rodrigo-Moreno Maria , Casas-Alba Didac , Lopez-Gonzalez Aitor , García-Miñaúr Sixto , Ángeles Mori Maria , Pacio-Minguez Marta , Rikeros-Orozco Emi , Santos-Simarro Fernando , Cruz-Rojo Jaime , Quesada-Espinosa Juan Francisco , Sanchez-Calvin Maria Teresa , Sanchez-del Pozo Jaime , Bernado Fonz Raquel , Isidoro-Garcia Maria , Ruiz-Ayucar Irene , Alvarez-Mora Maria Isabel , Blanco-Lago Raquel , De Azua Begoña , Eiris Jesus , Garcia-Peñas Juan Jose , Gil-Fournier Belen , Gomez-Lado Carmen , Irazabal Nadia , Lopez-Gonzalez Vanessa , Madrigal Irene , Malaga Ignacio , Martinez-Menendez Beatriz , Ramiro-Leon Soraya , Garcia-Hoyos Maria , Prieto-Matos Pablo , Lopez-Pison Javier , Aguilera-Albesa Sergio , Alvarez Sara , Fernández-Jaén Alberto , Llano-Rivas Isabel , Gener-Querol Blanca , Ayuso Carmen , Arteche-Lopez Ana , Palomares-Bralo Maria , Cueto-González Anna , Valenzuela Irene , Martinez-Monseny Antonio , Lorda-Sanchez Isabel , Almoguera Berta 
Published: November 2022

BackgroundKBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involvingANKRD11cause KBG syndrome, but no genotype–phenotype correlation has been reported.Methods67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a ‘phenotypical score’ were used to perform a genotype–phenotype correlation in 340 patients from our cohort and the literature.ResultsNeurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions.ConclusionWe present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype–phenotype correlation between some KBG features and specificANKRD11variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.
Psychopathology in mothers of children with pathogenic Copy Number Variants
Authors: Niarchou Maria , Cunningham Adam C. , Chawner Samuel J. R. A. , Moulding Hayley , Sopp Matthew ,   IMAGINE-ID, Hall Jeremy , Owen Michael J. , van den Bree Marianne B.M. 
Published: November 2022

BackgroundCaring for children with pathogenic neurodevelopmental Copy Number Variants (CNVs) (ie, deletions and duplications of genetic material) can place a considerable burden on parents and their quality of life. Our study is the first to examine the frequency of psychiatric diagnoses in mothers of children with CNVs compared with the frequency of psychiatric problems in age-matched mothers from a large community study.MethodsCase–control study. 268 mothers of children with a CNV diagnosed in a medical genetics clinic and 2680 age-matched mothers taking part in the Avon Longitudinal Study of Parents and Children study.ResultsMothers of children with CNVs reported higher frequency of depression, anorexia, bulimia, alcohol abuse and drug addiction problems compared with the age-matched mothers from the community sample. Focusing on psychiatric problems arising immediately after the birth of the index child, we found that the levels of depression symptoms were similar between the two groups (48% in mothers of children with CNVs vs 44% in mothers of the community sample, p=0.43), but mothers of children with CNVs had higher frequency of anxiety symptoms (55%) compared with mothers from the community sample (30%, p=0.03).ConclusionOur study highlights the need for healthcare providers to devise treatment plans that not only focus on meeting the child’s needs but also assess and, if needed, address the mental health needs of the parent.
Symptom clusters in oncology outpatients: stability and consistency across a cycle of chemotherapy
Authors: Harris Carolyn S , Kober Kord , Cooper Bruce , Conley Yvette P , Hammer Marilyn J , Dhruva Anand A , Cartwright Frances , Paul Steven , Levine Jon , Miaskowski Christine 
Published: November 2022

ObjectivesImproved understanding of the stability and consistency of symptom clusters across time, symptom dimensions and cancer diagnoses will lead to refinements in symptom assessments and management, and provide direction for mechanistic studies. Study purposes were to describe the occurrence, severity and distress of 38 symptoms; evaluate the stability and consistency of symptom clusters across a cycle of chemotherapy, three symptom dimensions and four distinct cancer types; and identify common and distinct symptom clusters.MethodsOncology outpatients (n=1329) completed the Memorial Symptom Assessment Scale prior to their next cycle of chemotherapy (T1), 1 week after chemotherapy (T2) and 2 weeks after chemotherapy (T3). Symptom clusters were identified using exploratory factor analysis using unweighted least squares. GEOMIN rotated factor loadings with absolute values ≥0.40 were considered meaningful. Clusters were stable if they were identified across each time point and/or dimension. Clusters were consistent if the same two or three symptoms with the highest factor loadings were identified across each time point and/or dimension.ResultsPatients reported 13.9 (±7.2) symptoms at T1, 14.0 (±7.0) at T2 and 12.2 (±6.8) at T3. Psychological, weight gain, gastrointestinal and respiratory clusters were stable across time and dimensions. Only the psychological, weight gain and respiratory clusters were consistent across time and dimensions.ConclusionGiven the stability of the psychological, weight gain and gastrointestinal clusters across cancer diagnoses, symptoms within these clusters need to be routinely assessed. However, respiratory and hormonal clusters are unique to specific cancer types and the symptoms within these clusters are variable.
Particle production in a hybrid approach for a beam energy scan of Au+Au/Pb+Pb collisions between $$\sqrt{s_\textrm{NN}}$$ = 4.3 GeV and $$\sqrt{s_\textrm{NN}}$$ = 200.0 GeV
Authors: Schäfer Anna , Karpenko Iurii , Wu Xiang-Yu , Hammelmann Jan , Elfner Hannah 
Published: November 2022

AbstractHeavy-ion collisions at varying collision energies provide access to different regions of the QCD phase diagram. In particular collisions at intermediate energies are promising candidates to experimentally identify the postulated first order phase transition and critical end point. While heavy-ion collisions at low and high collision energies are theoretically well described by transport approaches and hydrodynamics+transport hybrid approaches, respectively, intermediate energy collisions remain a challenge. In this work, a modular hybrid approach, the coupling 3+1D viscous hydrodynamics () to hadronic transport (), is introduced. It is validated and subsequently applied in Au+Au/Pb+Pb collisions between $$\sqrt{s_\textrm{NN}}$$

s
NN

= 4.3 GeV and $$\sqrt{s_\textrm{NN}}$$

s
NN

= 200.0 GeV to study the rapidity and transverse mass distributions of identified particles as well as excitation functions for $$\textrm{dN}/\textrm{d}y|_{y = 0}$$

dN
/
d
y
|

y
=
0

and $$\langle p_\textrm{T} \rangle $$

⟨

p
T

⟩

. A good agreement with experimental measurements is obtained, including the baryon stopping dynamics. The transition from a Gaussian rapidity spectrum of protons at lower energies to the double-hump structure at high energies is reproduced. The centrality and energy dependence of charged particle $$v_2$$

v
2

is also described reasonably well. This work serves as a basis for further studies, e.g. systematic investigations of different equations of state or transport coefficients.
Scotogenic Dirac neutrino mass models embedded with leptoquarks: one pathway to address the flavor anomalies and the neutrino masses together
Authors: Li Shao-Ping , Li Xin-Qiang , Yan Xin-Shuai , Yang Ya-Dong 
Published: November 2022

AbstractIf the leptoquarks proposed to account for the intriguing anomalies observed in the semileptonic B-meson decays, $$R_{D^{(*)}}$$

R

D

(

∗
)

and $$R_{K^{(*)}}$$

R

K

(

∗
)

, as well as in the anomalous magnetic moment of the muon, $$(g-2)_\mu $$

(
g
-
2
)

μ

, can be embedded into the scotogenic Dirac neutrino mass models, all these flavor anomalies, together with the origin of neutrino masses and the nature of dark matter, could be potentially addressed in a unified picture. Among the minimal seesaw, one-loop, and two-loop realizations of the dimension-4 effective operator $${\mathcal {L}}_{4}$$

L
4

for the Dirac neutrino masses, we show that plenty of diagrams associated with the two-loop realizations of $${\mathcal {L}}_{4}$$

L
4

can support the coexistence of leptoquarks and dark matter candidates. After a simple match of these leptoquarks with the ones introduced to accommodate all the flavor anomalies, we establish the scotogenic Dirac neutrino mass models embedded with leptoquarks, which could address all the problems mentioned above.
Analysis of CKM-favored quasi-two-body $$B \rightarrow D (R\rightarrow ) K \pi $$ decays in PQCD approach
Authors: Zou Zhi-Tian , Fang Wen-Sheng , Liu Xin , Li Ying 
Published: November 2022

AbstractLHCb Collaboration studied the resonant structure of $$B_s\rightarrow \overline{D}^0K^-\pi ^+$$

B
s

→

D
¯

0

K
-

π
+

decays using the Dalitz plot analysis technique, based on a data sample corresponding to an integrated luminosity of $$3.0\textrm{fb}^{-1}$$

3.0

fb

-
1

of pp collision. The $$K^-\pi ^+$$

K
-

π
+

components have been analyzed in the amplitude model, where the decay amplitude is modeled to be the resonant contributions with respect to the intermediate resonances $$K^*(892)$$

K
∗

(
892
)

, $$K_0^*(1430)$$

K
0
∗

(
1430
)

and $$K_2^*(1430)$$

K
2
∗

(
1430
)

. Motivated by the experimental results, we investigate the CKM-favored quasi-two-body $$B \rightarrow \overline{D}^0K\pi $$

B
→

D
¯

0

K
π

decays in the framework of the perturbative QCD (PQCD) approach. We calculate the the branching fractions by introducing the appropriate wave functions of $$K\pi $$

K
π

pair. Our results are in agreement well the available data, and others can be tested in LHCb and Belle-II experiments. Using the narrow-width-approximation, we also extract the branching fractions of the corresponding two-body $$B\rightarrow {\overline{D}} R$$

B
→

D
¯

R

decays, which agree to the previous theoretical calculations and the experimental data within the errors. There are no CP asymmetries in these decays in the standard model, because these decays are all governed by only the tree operators.
160 Gbps capacity and sub-us latency of polarization-independent optical packet switch architecture for free-space optical network using PLZT optical switch
Authors: Meng Jiacheng , Wang Wei , Xie Ningbo , Gao Duorui , Zhu Jiaxuan , Bai Zhaofeng , Xie Xiaoping 
Published: November 2022

In this paper, we discuss the challenges and limitations of current free-space optical (FSO) networks toward scaling beyond the 100 Gbps switch capacity era while achieving low-latency and high-reliability. Owing to the slowdown of Moore’s law, to avoid electronically-induced bottlenecks, we construct an FSO switch network and experimentally evaluate the feasibility of ultrafast optical packet switch architecture based on polarization-independent plomb lanthanum zirconate titanate (PLZT) switch without buffering. The bit error ratio of 160 Gbps ([Formula: see text]) data was validated based on measurements while still preserving the sub-us latency metrics ([Formula: see text] ns). The experimental results may offer a significant reference for FSO communication and network.
Petrogenesis of the Triassic andesites in the East Kunlun Orogen, East Tethys: implications for crustal maturation within an extensional setting
Authors: Zhao Xu , Fu Lebing , Santosh M. , Wei Junhao , Zhang Cheng , Chen Jiajie , Xu Chongwen , Zhang Xinming 
Published: November 2022

The tectonic and crustal evolution of the East Kunlun Orogen in the Triassic remains unclear. We investigated the Triassic andesites (235 and 216 Ma) to investigate these issues. The Mid- and Late Triassic andesites are calc-alkaline with enriched Sr–Nd isotopic compositions: (
87
Sr/
86
Sr)
i
= 0.709210–0.709758 and

ε

Nd
(
t
) = −8.0 to −6.9. The Mid-Triassic andesites have higher Mg, Cr and Ni contents and more depleted Hf isotopic compositions (

ε

Hf
(
t
) = −4.2 to 1.3) than the Late Triassic andesites (

ε

Hf
(
t
) = −7.4 to −5.8). These features are explained by the derivation of magma from partial melting of the mafic lower continental crust, although minor lithospheric mantle materials are also involved in the Mid-Triassic andesites. The andesites were generated in extensional settings related to slab break-off in the Mid-Triassic and lithospheric delamination in the Late Triassic, respectively. The Late Triassic magmatic suites are higher in K and represent a more mature continental crust, indicating that crustal reworking in extensional settings contributes to crustal maturation. In combination with the regional magmatic, structural and sedimentary records, we propose that the East Kunlun Orogen evolved from oceanic subduction in the Late Permian to Mid-Triassic through continental collision in the Mid-Triassic to post-collision in the Late Triassic.
Chapter 10. Sequence stratigraphy in the exploration for North Sea Jurassic stratigraphic traps
Authors: Copestake Philip 
Published: November 2022

Abstract
The application of sequence stratigraphic concepts and methods significantly enhances the evaluation of stratigraphic traps. In this chapter, five examples of, as yet undrilled, potential UK North Sea Jurassic combination stratigraphic traps, from the East Shetland Platform, South Viking Graben, Inner Moray Firth and Central Graben, are discussed and the potential application of sequence stratigraphic methods in their evaluation considered.
Middle to Late Pennsylvanian tetrapod evolution: the Kasimovian bottleneck
Authors: Lucas Spencer G. 
Published: November 2022

Abstract
The Late Pennsylvanian was a critical juncture in tetrapod evolution when many terrestrially adapted taxa first appeared. The Middle Pennsylvanian (Moscovian) tetrapod record reflects a taphonomic megabias that favoured preservation, discovery and collection of aquatic tetrapods that lived in wetland palaeoenvironments (‘coal swamps’). The Kasimovian tetrapod record is limited to seven localities, all but one in the USA, and two of which are singleton records, so it is less abundant, diverse or widespread than earlier Moscovian and later Gzhelian tetrapod records. This ‘Kasimovian bottleneck’ hinders interpretation of tetrapod evolutionary events across the Middle–Late Pennsylvanian boundary. Significant changes did take place across that boundary, but they were spread out over Moscovian through Gzhelian time. Many of the perceived changes in tetrapods across the Middle–Late Pennsylvanian boundary are largely artefacts of facies changes and the Moscovian tetrapod taphonomic megabias and of the limited fossil record of Kasimovian tetrapods. Therefore, there is no simple link between Late Pennsylvanian tetrapod evolutionary events and changes in climate and vegetation.
Clinical Features and Prognosis Analysis of Hormone Receptor-Positive, HER2-Negative Breast Cancer with Differential Expression Levels of Estrogen and Progesterone Receptors: A 10-Year Retrospective Study
Authors: Liu Jin , Gan Mingyu , Lin Zijing , Deng Qin , Deng Juan , Zeng Bin , Shi Yanling , Ming Jia 
Published: November 2022

Background. Estrogen and progesterone receptor status can predict breast cancer patient prognosis and treatment sensitivity, but research on low ER and PR levels and expression balance remains limited. Methods. From January 2010 to October 2016, 283 ER+/PR+/HER2-breast cancer patients who met the inclusion criteria were enrolled and divided into the H group (ER > 10%, N = 261) and the L group (1% ≤ ER ≤ 10%, N = 22). Groups were further divided into the HH group (ER > 10%/PR > 20%, N = 201), the HL group (ER > 10%/ER 1% ≤ PR ≤ 20% PR, N = 60), the LH group (1% ≤ ER ≤ 10%/PR > 20%, N = 5), and the LL group (1% ≤ ER ≤ 10%/1% ≤ PR ≤ 20%, N = 17). The LH group was excluded due to its small size, leaving the clinical and prognostic characteristics of 2 large groups and 3 subgroups to be analyzed. Results. L group patients had significantly more stage N2 axillary lymph nodes than H group patients (31.8% vs. 9.2%,

P

= 0.007). Age (

P

= 0.011), menopause status (

P

= 0.001), and tumor size (

P

= 0.024) were significantly different in the HL vs. HH and LL groups. Five-year DFS (94.6% vs. 77.0%,

P

< 0.001) and 5-year OS (97.2% vs. 85.8%,

P

= 0.001) rates significantly differed between HH and HL. No significant differences in 5-year DFS (77.0% vs. 81.9%,

P

= 0.564) or 5-year OS (85.8% vs. 87.8%,

P

= 0.729) rates were observed between HL and LL; the OS rates of HL and LL were similar. Conclusion. In the group of ER+/PR+/HER2-patients, there was no significant prognostic difference between ER-low positive and ER-high positive groups, but low PR expression was significantly associated with a worse prognosis. The role of ER and PR balance in breast cancer progression and individualized treatment requires further investigation.
The Value of Glycemic Control Prior to Cancer Diagnosis on All-Cause Mortality among Patients with Type 2 Diabetes in Dutch Primary Care
Authors: de Haan-Du Jing , Groenier Klaas H. , Wauben-Spaetgens Brendy , Jalving Mathilde , Kleefstra Nanne , Landman Gijs W.D. , de Bock Geertruida H. 
Published: November 2022

Abstract

Background:
Poor glycemic control prior to cancer diagnosis for patients with preexisting type 2 diabetes (T2DM) may predict a worse cancer diagnosis. We investigated the association between pre-diagnosis glycemic control and all-cause mortality in patients with T2DM who develop cancer.

Methods:
This prospective cohort study linked data from three sources covering 1989 to 2019: a T2DM benchmarking database, the Netherlands Cancer Registry, and the Personal Records Database. We included patients with T2DM and incident primary breast, colorectal, or prostate cancer (stage 0–III), with target glycemic control defined according to Dutch guidelines. Analysis involved estimating the association between glycemic control and all-cause mortality with Cox proportional hazard models, accounting for individual expected survival relative to the general population and relevant disease (e.g., diabetes duration and medications) and individual (e.g., age and gender) characteristics.

Results:
Of the 71,648 linked cases, 620 had breast cancer, 774 had colorectal cancer, and 438 had prostate cancer, with follow-up data available for 6.4 (4.2–8.4), 5.6 (2.7–7.6), and 6.3 (4.5–8.2) years, respectively. Compared with patients with pre-diagnosis glycemic control at target, the HRs and 95% confidence intervals for mortality among those with pre-diagnosis glycemic control not at target were 1.40 (1.00–1.96) for breast cancer, 1.45 (1.12–1.88) for colorectal cancer, and 1.39 (0.98–1.98) for prostate cancer.

Conclusions:
Among patients with T2DM in Dutch primary care, poor glycemic control before diagnosis with breast and colorectal cancer can increase mortality compared with good control.

Impact:
Glycemic control prior to cancer diagnosis is of prognostic value.
Leonardo da Vinci’s Visualization of Gravity as a Form of Acceleration
Authors: Gharib Morteza , Roh Chris , Noca Flavio 
Published: November 2022

AbstractDespite limited tools, Leonardo da Vinci displayed ingenious problem-solving. The authors examine a combination of Leonardo’s thought and physical experiments regarding the acceleration of falling objects. Leonardo recorded that if a water-pouring vase moves transversally (sideways), mimicking the trajectory of a vertically falling object, it generates a right (as in orthogonal) triangle with equal leg length, composed of falling material lining up diagonally (forming the hypotenuse) and the vase trajectory forming one of the legs. On the hypotenuse, Leonardo wrote “Equatione di Moti,” or equalization of motions, noting the equivalence of the two orthogonal motions, one effected by gravity and the other prescribed by the experimenter. The authors present an analytical solution using Newtonian mechanics to confirm Leonardo’s “Equivalence principle.”
Dynamic interactions between anterior insula and anterior cingulate cortex link perceptual features and heart rate variability during movie viewing
Authors: Sonkusare Saurabh , Wegner Katharina , Chang Catie , Dionisio Sasha , Breakspear Michael , Cocchi Luca 
Published: November 2022

Abstract
The dynamic integration of sensory and bodily signals is central to adaptive behaviour. Although the anterior cingulate cortex (ACC) and the anterior insular cortex (AIC) play key roles in this process, their context-dependent dynamic interactions remain unclear. Here, we studied the spectral features and interplay of these two brain regions using high-fidelity intracranial-EEG recordings from five patients (ACC: 13 contacts, AIC: 14 contacts) acquired during movie viewing with validation analyses performed on an independent resting intracranial-EEG dataset. ACC and AIC both showed a power peak and positive functional connectivity in the gamma (30–35 Hz) frequency while this power peak was absent in the resting data. We then used a neurobiologically informed computational model investigating dynamic effective connectivity asking how it linked to the movie’s perceptual (visual, audio) features and the viewer’s heart rate variability (HRV). Exteroceptive features related to effective connectivity of ACC highlighting its crucial role in processing ongoing sensory information. AIC connectivity was related to HRV and audio emphasising its core role in dynamically linking sensory and bodily signals. Our findings provide new evidence for complementary, yet dissociable, roles of neural dynamics between the ACC and the AIC in supporting brain-body interactions during an emotional experience.