bluuebunny/crossref_metadata_2025_split huggingface dataset:
A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
Authors: Sowińska-Seidler Anna , Socha Magdalena , Szoszkiewicz Anna , Materna-Kiryluk Anna , Jamsheer Aleksander 
Published: October 2023

Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss, craniofacial malformation, and ectodermal dysplasia. Consequently, the condition is characterized by clinical variability that hinders diagnostic and counseling procedures. SHFM1 is caused by pathogenic variants affecting the DLX5/6 genes and/or their tissue-specific enhancers at the 7q21.3 locus. Herein, we report on seven patients from five unrelated Polish families affected by variable symptoms of the SHFM1 spectrum, all harboring 7q21.3 or 7q21.2-q21.3 rearrangements, and provide a genotype–phenotype correlation in the studied cohort.Methods: We applied GTG banding, array-based comparative genomic hybridization (aCGH), and whole-genome sequencing (WGS) in order to identify the causative aberrations in all affected patients.Results: The identified pathogenic structural variants included deletions and/or translocations involving the 7q21.3 locus, i.e., t(7;10)(q21.3;q22.2) and t(7;12)(q21.3;q21.2) in all affected individuals. Interestingly, a sporadic carrier of the latter aberration presented the SHFM1 phenotype with additional features overlapping with Baker–Gordon syndrome (BAGOS), which resulted from the translocation breakpoint at chromosome 12 within the SYT1 gene.Conclusion: Clinical variability of the studied cohort reflects the composition of the DLX5/6 regulatory elements that were dislocated from their target genes by chromosomal rearrangements. The correlation of our data with the previously published observations enabled us to update the phenotypic subregions and regulatory units within the SHFM1 locus. In addition, we present the first case of SHFM1 and BAGOS-like phenotype that resulted from translocation breakpoints at chromosomes 7 and 12, both of which were pathogenic, and consequently, we show the first evidence that BAGOS can also result from the regulatory loss-of-function SYT1 mutations. In this paper, we emphasize the utility of sequence-based approaches in molecular diagnostics of disorders caused by regulatory structural variants.
The surgical strategy and technical nuances of in situ side-to-side bypass for the management of complex intracranial aneurysms
Authors: Wang Hua-wei , Xue Zhe , Sun Cai-hong , Kong Dong-sheng , Wu Chen , Sun Zheng-hui 
Published: October 2023

BackgroundDespite continuous advances in microsurgical and endovascular techniques, the treatment of complex aneurysms remains challenging. Aneurysms that are dilemmatic for conventional clipping or endovascular coiling often require bypass as part of a strategy to reduce the risk of ischemic complications. In anatomically favorable sites, the intracranial–intracranial in situ bypass may be an appealing choice. This article details the surgical strategies, operative nuances, and clinical outcomes of this technique with a consecutive series in our department.MethodsA retrospective review of a prospectively maintained neurosurgical patient database was performed to identify all patients treated with side-to-side in situ bypass from January 2016 to June 2022. In total, 12 consecutive patients, including 12 aneurysms, were identified and included in the series. The medical records, surgical videos, neuroimaging studies, and follow-up clinic notes were reviewed for every patient.ResultsOf the 12 aneurysms, there were 5 middle cerebral artery aneurysms, 4 anterior cerebral artery aneurysms, and 3 posterior inferior cerebellar artery aneurysms. The morphology of the aneurysms was fusiform in 8 patients and saccular in the remaining 4 patients. There were 3 patients presented with subarachnoid hemorrhage. The treatment modality was simple in situ bypass in 8 cases and in situ bypass combined with other modalities in 4 cases. Bypass patency was confirmed in all cases by intraoperative micro-doppler probe and (or) infrared indocyanine green (ICG) video angiography intraoperatively and with digital subtraction angiography (DSA) or computed tomography angiography (CTA) postoperatively. None of the patients developed a clinically manifested stroke due to the procedure though a callosomarginal artery was intentionally removed in one patient. The median follow-up period was 16.2 months (6-36). All patients had achieved improved or unchanged modified Rankin scale scores at the final follow-ups.ConclusionCerebral revascularization technique remains an essential skill for the treatment of complex aneurysms. The in situ bypass is one of the most effective techniques to revascularize efferent territory when vital artery sacrifice or occlusion is unavoidable. The configuration of in situ bypass should be carefully tailored to each case, with consideration of variations in anatomy and pathology of the complex aneurysms.
Integrated widely targeted metabolomics and network pharmacology revealed quality disparities between Guizhou and conventional producing areas of Codonopsis Radix
Authors: Zhang Kaixian , Zhang Delin , Yang Qingfang , Long Langtao , Xie Jian , Wang Yong , Yao Qiuyang , Wu Faming , Liu Sha 
Published: October 2023

IntroductionWith the internationalization of traditional Chinese medicine, the demand for medicinal and edible Codonopsis Radix (CR) has increased, and its medicinal resources have attracted attention. CR is a well-known traditional Chinese medicine with a long pharmaceutical and edible history. The Guizhou province in China has abundant CR resources, but in the absence of systematic studies on species identification and chemical compositions, the capacity of the capacity of the province to CR resource has not been fully utilized.MethodologyWe used plant morphology and DNA barcoding techniques to identify Luodang (LD) and Weidang (WD) species. To investigate the differences in metabolites between LD and WD, as well as three Chinese Pharmacopeia CRs, and to predict pharmacological mechanisms of action for the dominant differential metabolites, we utilized widely targeted metabolomics and network pharmacology. The results also revealed the material basis for the excellent food properties of both LD and WD.ResultsThe plant traits and DNA barcoding molecular identification results indicated that Luodang and Weidang from Guizhou were Codonopsis tangshen and Codonopsis pilosula, respectively. Widely targeted metabolomics analysis revealed that a total of 1,116 metabolites from 14 categories, including phenolic acids, lipids, flavonoids, were found in five CRs and shared 1,054 (94.4%) metabolites. LD and WD each contained 3 and 10 dominant differential metabolites, respectively, which were primarily flavonoids and amino acids. Amino acids, phenolic acids, and organic acids play important roles in their excellent food attributes. In CR, eight dominant differential metabolites were discovered for the first time, including isoorientin-7-O-(6″-feruloyl) glucoside, N-formyl-L-methionine, and cyclo (Phe-Glu), among others. Network pharmacology analyses showed that, in LD, dominant differential metabolites were closely related to anti-tumor, cardiovascular disease improvement, nervous system protection, and metabolic disease treatment, whereas in WD, they were closely related to nervous system protection and cardiovascular disease improvement.ConclusionThe species of LD and WD were included in the Chinese Pharmacopeia, and their metabolite profiles were remarkably similar to CR from traditional producing areas. Therefore, LD and WD can be used and promoted medicinally as CR, and they have potential value for new drug development. This study enriched the database of CR compounds and provided a reference for quality control, resource development, and new drug development of CR.
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid
Authors: Sheng Zhiyuan , Bu Chaojie , Mei Jie , Xu Sensen , Zhang Ziyue , Guo Guangzhong , Gao Yushuai , Xing Liyuan , Chen Zhongcan , Hernesniemi Juha , Zemmar Ajmal , Bu Xingyao 
Published: October 2023

ObjectiveTumor in situ fluid (TISF) refers to the fluid within surgical cavities of glioma. Several studies preliminarily proved the value of cell-free tumor DNA (cf-tDNA) from TISF in the dynamic characterization of the glioma genome. Here, we assessed the potential utility of TISF cf-tDNA in broad aspects of tumor evolution under therapeutic pressure.MethodsThis study was conducted under an Institutional Review Board-approved protocol at Henan Provincial People’s Hospital (China). Cf-tDNA samples were sequenced with a designed 68-gene panel. A total of 205 cf-tDNA samples from 107 patients were studied. The clinical relevance of serial cf-tDNA profiling during the postoperative course was analyzed.ResultsAt least one tumor mutations were detected in 179/205 (87.3%) TISF cf-tDNA samples. Serial cf-tDNA was complementary to molecular residual disease and to initial tumors. Serial cf-tDNA revealed the selection of pre-existing mismatch repair-deficient cells by temozolomide as a resistant mechanism. Cf-tDNA parameters during treatment were predictive of recurrence, and serial cf-tDNA monitoring had diagnostic value for early recurrence. A total of 223 potentially actionable genomic alterations were assessed in cf-tDNA samples, wherein 78% were not found in any tumor tissue.ConclusionsIn conclusion, serial TISF cf-tDNA profiling is valuable in tracking the tumor evolution of glioma during treatment and may be a feasible non-invasive option for monitoring glioma in future prospective studies and clinical practice.
Physeal bar resection by modified arthroscopically assisted surgery in a closed osteocavity
Authors: Xiao Han , Li Miao , Tan Qian , Ye Weihua , Wu Jiangyan , Mei Haibo , Zhu Guanghui , Yan An 
Published: October 2023

BackgroundPhyseal bar resection has been used for partial growth arrest treatment for a decade while removing the bony bar minimally invasively and accurately is challenging. This research aims to illustrate a modified arthroscopically assisted surgery, by which all the procedure was under all-inside visualization, without the constant exchange between burring under fluoroscopy, followed by irrigation, suction, and arthroscopy of the canal.MethodsWe retrospectively reviewed the patients who sustained physeal bar resection under direct all-inside visualization of the arthroscope during 2016–2021. Patients who underwent physeal bar resection with the aid of an arthroscope for identifying the physeal cartilage but not resecting and visualizing the physeal bar simultaneously were excluded from this study.ResultsIn total, nine patients with ten related joints were included in this study. All the patients were followed up for at least two years. The average following time was 28.5 ± 6.7 months. Eight patients with nine related joints had an improvement of angular deformity, averaging 8.3 ± 6.9 degrees, and one had a worsening of the angular deformity. All the patients had a leg length discrepancy improvement, while four patients still had LLD &gt;1 cm. The surgery time was 3.1 ± 0.7 h. There were no postoperative fractures, infections, or intraoperative complications such as neurovascular injury.ConclusionsUsing clamps to form a closed osteocavity could make physeal bar resection under all-inside arthroscopic visualization feasible, which is minimally invasive, accurate, and safe.
Applying machine learning algorithms to develop a survival prediction model for lung adenocarcinoma based on genes related to fatty acid metabolism
Authors: Cong Dan , Zhao Yanan , Zhang Wenlong , Li Jun , Bai Yuansong 
Published: October 2023

Background: The progression of lung adenocarcinoma (LUAD) may be related to abnormal fatty acid metabolism (FAM). The present study investigated the relationship between FAM-related genes and LUAD prognosis.Methods: LUAD samples from The Cancer Genome Atlas were collected. The scores of FAM-associated pathways from the Kyoto Encyclopedia of Genes and Genomes website were calculated using the single sample gene set enrichment analysis. ConsensusClusterPlus and cumulative distribution function were used to classify molecular subtypes for LUAD. Key genes were obtained using limma package, Cox regression analysis, and six machine learning algorithms (GBM, LASSO, XGBoost, SVM, random forest, and decision trees), and a RiskScore model was established. According to the RiskScore model and clinical features, a nomogram was developed and evaluated for its prediction performance using a calibration curve. Differences in immune abnormalities among patients with different subtypes and RiskScores were analyzed by the Estimation of STromal and Immune cells in MAlignant Tumours using Expression data, CIBERSORT, and single sample gene set enrichment analysis. Patients’ drug sensitivity was predicted by the pRRophetic package in R language.Results: LUAD samples had lower scores of FAM-related pathways. Three molecular subtypes (C1, C2, and C3) were defined. Analysis on differential prognosis showed that the C1 subtype had the most favorable prognosis, followed by the C2 subtype, and the C3 subtype had the worst prognosis. The C3 subtype had lower immune infiltration. A total of 12 key genes (SLC2A1, PKP2, FAM83A, TCN1, MS4A1, CLIC6, UBE2S, RRM2, CDC45, IGF2BP1, ANGPTL4, and CD109) were screened and used to develop a RiskScore model. Survival chance of patients in the high-RiskScore group was significantly lower. The low-RiskScore group showed higher immune score and higher expression of most immune checkpoint genes. Patients with a high RiskScore were more likely to benefit from the six anticancer drugs we screened in this study.Conclusion: We developed a RiskScore model using FAM-related genes to help predict LUAD prognosis and develop new targeted drugs.
Product development and quality of pharmacy compounded chenodeoxycholic acid capsules for Dutch cerebrotendinous xanthomatosis patients
Authors: Bouwhuis Natalja , Jacobs Bart A. W. , Kemper E. Marleen 
Published: October 2023

Introduction: In 2017 the drug chenodeoxycholic acid (CDCA) became unavailable to Dutch patients with the rare inborn error of metabolism cerebrotendinous xanthomatosis (CTX). This was a direct result of a steep price increase after CDCA was authorized in the EU as an orphan drug. As a result, Dutch health insurance companies were unable to reimburse this drug and the availability of CDCA to patients with CTX was directly at risk creating an unmet medical need. CTX is characterized by juvenile cataract, tendon xanthomas, infantile-onset diarrhea, psychomotor retardation and progressive cerebellar ataxia. Treatment with CDCA, when initiated before neurological symptoms are present, can prevent the onset of neurological complications.Methods: To assure continuation of patient treatment with a high quality product, the hospital pharmacy of the Amsterdam UMC developed CDCA capsules as a pharmacy preparation. A simple and robust formulation was developed for capsules in a broad dose range of 35–250 mg, ensuring that both pediatric and adult patients can receive an exact dose tailored to their specific needs. Capsules are prepared manually on a small scale for the individual patient. To assure the quality of the product, product validation and stability studies were performed.Results: The results show that the product complies with all specifications based on the requirements of the European Pharmacopoeia. The capsules contain the declared amount of CDCA, no degradation product or other (microbiological) impurities are formed during the production process and the capsules show a quick dissolution profile. Stability studies indicate that it is a stable product and no impurities increase or arise over time. These results show that these pharmacy preparations are of high quality and comply to Good Manufacturing Practice (GMP) requirements.Discussion: Through our research, we have demonstrated that pharmacy compounding can be a viable alternative in situations where immediate access to essential medication is crucial or when certain drugs are temporarily inaccessible. The purpose of this paper is to offer comprehensive guidance to other pharmacies to improve the availability of currently inaccessible drugs through the practice of pharmacy compounding, thereby facilitating improved patient care.
The mediating role of anxiety in disease uncertainty and acute stress in acute ischaemic stroke patients in the post-epidemic era
Authors: Tan Hui 
Published: October 2023

ObjectiveTo analyse the influencing factors of anxiety, disease uncertainty and acute stress response in patients with acute ischaemic stroke, and to verify the mediating role of anxiety in the post-epidemic era.Methods240 patients with acute ischaemic stroke were selected from a tertiary hospital in Wuhan City and investigated by questionnaire and convenience sampling methods.ResultsThe total anxiety score, disease uncertainty and acute stress reaction were at moderate levels. Anxiety was positively correlated with illness uncertainty, and anxiety and acute stress response were negatively correlated. Multiple linear regression analysis showed that Sickness uncertainty, acute stress response, age, and work status influenced anxiety. Anxiety mediated the prediction of Sickness uncertainty and acute stress response, with the mediating effect accounting for 35.6% of the total effect.ConclusionDisease uncertainty in patients with acute ischaemic stroke in the post-epidemic era directly affects the acute stress response and indirectly through anxiety.
Convexité au sens direct ou inverse et applications dans l'optimisation vectorielle
Authors: Popovici Nicolae 
Published: October 2023

(in English) The aim of this paper is to study vector optimization poblems involving objective functions which are convex in some direct or inverse sense (i.e. a special class of cone-quasiconvex functions). In particular, it is shown that the image of the objective function is a cone-convex set, property which is important from the scalarization point of view in vector optimization.
(in French) Le but de cet article est d'etudier les problemes d'optimisation vectorielles ayant des fonctions objectifs convexes au sens direct ou inverse. Il s'agit notamment de donner des conditions suffisantes pour que l'image d'un ensemble convexe par des fonction objectifs cone-quasiconvexes soit un ensemble cone-convexe, propriete qui joue un role important dans la plupart des methodes de scalarisation utilisees dans l'optimisation vectorielle.
On the numerical evaluation of certain 2-D singular integrals
Authors: Gori Laura , Cascio Laura Lo , Santi Elisabetta 
Published: October 2023

The problem of approximating certain two-dimensional Cauchy principal value integrals is here considered, product integration formulas with multiple nodes are presented and the behaviour of the remainder is analyzed. Next a particular class of cubature rules is generated, having the peculiar property that the set of the nodes holds fixed while their multiplicities vary. Some numerical examples of application of the latter rules are also provided.
On the flow of a viscous thin layer on an inclined plane driven by a constant surface tension gradient
Authors: Borşa Emilia , Gheorghiu Călin Ioan 
Published: October 2023

Steady flow of a thin layer (trickle, rivulet) of viscous fluid down an
inclined surface is considered, via a thin-film approximation. The work extends
the study by Duffy and Moffatt [7] of gravity-driven thin trickle of viscous fluid
to include the effects of a surface tension gradient. It acts on the free surface of
the layer. At the same time the work tries an alternative analysis to our tradi-
tional approaches exposed in [6] and the papers quoted there. Asymptotic and
numerical results for several values of volume flux and surface tension gradients
are carried out.
Harmonic blending approximation
Authors: Delvos Franz-Jürgen 
Published: October 2023

The concept of harmonic Hilbert space \(H_D({\mathbb R} ^n)\) was introduced in [2] as an extension of periodic Hilbert spaces [1], [2], [5], [6]. In [4] we introduced multivariate harmonic Hilbert spaces and studied approximation by exponential-type function in these spaces and derived error bounds in the uniform norm for special functions of exponential type which are defined by Fourier partial integrals \(S_b(f)\):
\[S_b(f)(x)=\int _{ {\mathbb R} ^n } \chi _{[-b,b]}(t) F(t) \exp(i(t,x)) dt,\]\([-b,b]=[-b_1,b_1]\times ... \times [-b_n ,b_n], \quadb_1>0,...,b_n>0\), where\(F(t)\sim \left( {\textstyle\frac 1{2\pi}}\right) ^n\ \int_{{\mathbbR} ^n}f(x) \exp (-i(x,t))dx \ \in L_2({\mathbb R} ^n) \capL_1({\mathbb R} ^n)\)is the Fourier transform of \(f \in L_2({\mathbb R} ^n) \capC_0({\mathbb R} ^n)\). In this paper we will investigate more general approximation operators \(S_\psi \) in harmonic Hilbert spaces of tensor product type.
Inequalities for some iterated linear operators and their applications in approximation theory
Authors: Knoop Hans-Bernd , Zhou Xinlong 
Published: October 2023

Some inequalities for the ”derivatives” of iterated linear operators will be presented, which will be applied for the investigation of degrees of approximation.
Thus, with the application of the Laplacian we improve some classical results concerning the Jackson type estimate, the inverse theorem as well as the saturation phenomenon
Hermite bicubic spline collocation method for Poisson's equations
Authors: Puşcaş Mihaela 
Published: October 2023

In this paper is presented a bicubic spline collocation method for
the numerical approximation of the solution of Dirichlet problem
for the Poisson's equation. The approximating solution is
effectively determined in a bicubic Hermite spline functions space
by using a suitable basis constructed as a tensorial product of
univariate spline spaces.
Biermann interpolation of Birkhoff type
Authors: Birou Marius 
Published: October 2023

If \(P_{0},P_{1},...,P_{r}\) and \(Q_{0},Q_{1},...,Q_{r}\) are Birkhoff univariate projectors which form the chains\[P_{0}\le P_{1}\le\dots\le P_{r},\quad Q_{0}\le Q_{1}\le\dots\le Q_{r},\]we can define the Biermann operator of Birkhoff type\[B_{r}^{B}=P_{0}^{\prime}Q_{r}^{\prime\prime}\oplus P_{1}^{\prime}Q_{r-1}^{\prime\prime}\oplus\dots\oplus P_{r}^{\prime}Q_{0}^{\prime\prime},\]where \(P_{1}^{\prime},\dots,P_{r}^{\prime}\),\(Q_{1}^{\prime\prime},\dots ,Q_{r}^{\prime\prime}\) are the parametric extension. We give the representations of Biermann interpolant of Birkhoff type for two particular cases (Abel-Goncharov and Lidstone projectors) and we calculate the approximation order of Biermann interpolant in these cases.
On the modified beta approximating operators of second kind
Authors: Miheşan Vasile 
Published: October 2023

We shall define a general linear operator from which we obtain as particular case the modified beta second kind operator\[(T_{p,q}f)(x)=\frac{1}{B(p,q)}\int_0^\infty\tfrac{u^{p-1}}{(1+u)^{p+q}}f\left(\frac{B(p,q)}{B(p+a,q-a)}u^ax\right){\rm d}u.\] We consider here only the case \(a=1\). We obtain several positive linear operators as a particular case of this modified beta second kind operator.