An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.

Four multi-species conserved sequences (MCSs) are important enhancers which affect α-globin expression. Deletions of MCS can cause α-thalassemia. So far, duplication of MCS has never been reported to account for thalassemia.

A Dual-Energy Computed Tomography Guided Intelligent Radiation Therapy Platform.

Purpose: The integration of advanced imaging and artificial intelligence technologies in radiation therapy has revolutionized cancer treatment by enhancing precision and adaptability. This study introduces a novel dual-energy computed tomography (DECT) guided intelligent radiation therapy (DEIT) platform designed to streamline and optimize the radiation therapy process. The DEIT system combines DECT, a newly designed dual-layer multileaf collimator, deep learning algorithms for auto-segmentation, and automated planning and quality assurance capabilities.

Multipoint Anionic Bridge: Asymmetric Solvation Structure Improves the Stability of Lithium-Ion Batteries.

In this study, a novel concept of multipoint anionic bridge (MAB) is proposed and proved, which utilizes anions with different sites to connect with the asymmetric solvation structure (ASS). Compared to usual solvation structures, this study utilizes the multifunctional groups of difluoro(oxalate)borate anion (ODFB), which can connect with Li. By tailoring the concentration, the anion serves as a bridge between different solvated structures.

Alpha-asarone alleviates cutaneous hyperalgesia by inhibiting hyperexcitability and neurogenic inflammation via TLR4/NF-κB/NLRP3 signaling pathway in a female chronic migraine rat model.

Migraine is a highly prevalent neurological disorder. Alpha-asarone (ASA), a major active component found in Acorus tatarinowii, plays a crucial role in analgesia and anti-inflammation for neuropathic pain. This study aimed to assess the efficacy of ASA against migraine and elucidate its potential mechanisms using a well-established inflammatory soup (IS) migraine female rat model.

State Interaction for Relativistic Four-Component Methods: Choose the Right Zeroth-Order Hamiltonian for Late-Row Elements.

We present several schemes based on the spin-separation of the Dirac-Coulomb-Breit Hamiltonian for the perturbative treatment of relativistic four-component Hamiltonians within the state interaction framework. While state interaction approaches traditionally use zeroth-order scalar-relativistic states, we develop augmented zeroth-order Hamiltonians with increasing accuracy and investigate convergence to the variational limit as a function of the choice of zeroth-order Hamiltonian. The state interaction schemes developed in this work are benchmarked using ground-state fine-structure splitting of late-row atoms and diatomic hyrides.

Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing.

α-thalassemia major (α-TM) often causes Hb Bart's (c4) hydrops fetalis and severe obstetric complications in the mother. Step-wise screening for couples at risk of having offspring(s) affected by α-TM is the efficient prevention method but some rare genotypes of thalassemia cannot be detected. A 32-year-old male with low HbA2 (2.

MiR-424-5p Inhibits Proliferation, Migration, Invasion and Angiogenesis of the HTR-8/SVneo Cells Through Targeting LRP6 Mediated β-catenin.

The aim of this study was to investigate the effects of miR-424-5p on biological behaviors and angiogenesis of the HTR-8/SVneo Cells. Our study included 60 parturient women, which were divided into an PA group (placenta accreta, n = 30) and a normal group (normal placenta, n = 30). QPCR was used to measure the expression of miR-424-5p in placental tissues.

Microcapsule Modification Strategy Empowering Separator Multifunctionality to Enhance Safety of Lithium-Metal Batteries.

The uncontrollable growth of lithium dendrites and the flammability of electrolytes are the direct impediments to the commercial application of high-energy-density lithium metal batteries (LMBs). Herein, this study presents a novel approach that combines microencapsulation and electrospinning technologies to develop a multifunctional composite separator (P@AS) for improving the electrochemical performance and safety performance of LMBs. The P@AS separator forms a dense charcoal layer through the condensed-phase flame retardant mechanism causing the internal separator to suffocate from lack of oxygen.

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Background: The molecular mechanism of fetal cystic hygroma (CH) is still unclear, and no study has previously reported the transcriptome changes of single cells in CH. In this study, single-cell transcriptome sequencing (scRNA-seq) was used to investigate the characteristics of cell subsets in the lesion tissues of CH patients.

Methods: Lymphoid tissue collected from CH patients and control donors for scRNA-seq analysis.

Tetravalent Cerium Alkyl and Benzyl Complexes.

High-valent cerium complexes of alkyl and benzyl ligands are unprecedented due to the incompatibility of the typically highly oxidizing Ce ion and the reducing alkyl or benzyl ligand. Herein we report the synthesis and isolation of the first tetravalent cerium alkyl and benzyl complexes supported by the tri--butyl imidophosphorane ligand, [NP(Bu)]. The Ce monoiodide complex, [CeI(NP(-butyl))] (), serves as a precursor to the alkyl and benzyl complexes, [Ce(Npt)(NP(-butyl))] () (Npt = neopentyl, CHC(CH)) and [Ce(Bn)(NP(-butyl))] () (Bn = benzyl, CHPh).

Comparison of Variational and Perturbative Spin-Orbit Coupling within Two-Component CASSCF.

The modeling of spin-orbit coupling (SOC) remains a challenge in computational chemistry due to the high computational cost. With the rising popularity of spin-driven processes and f-block metals in chemistry and materials science, it is incumbent on the community to develop accurate multiconfigurational SOC methods that scale to large systems and understand the limits of different treatments of SOC. Herein, we introduce an implementation of perturbative SOC in scalar-relativistic two-component CASSCF (srX2C-CASSCF-SO).

Variant spectrum of and in hemophilia patients from southern China and 26 novel variants.

Hemophilia, an X-linked recessive disorder, is characterized by spontaneous or trauma-induced prolonged bleeding. It is classified as hemophilia A when caused by variants in the gene, and hemophilia B when caused by variants. Few studies have described hemophilia variants in the Chinese population.

Prenatal diagnosis and outcomes in fetuses with duplex kidney.

Objective: Duplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses.

Methods: This retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023.

Machine learning-based ensemble prediction model for the gamma passing rate of VMAT-SBRT plan.

Purpose: The purpose of this study was to accurately predict or classify the beam GPR with an ensemble model by using machine learning for SBRT(VMAT) plans.

Methods: A total of 128 SBRT VMAT plans with 330 arc beams were retrospectively selected, and 216 radiomics and 34 plan complexity features were calculated for each arc beam. Three models for GPR prediction and classification using support vector machine algorithm were as follows: (1) plan complexity feature-based model (plan model); (2) radiomics feature-based model (radiomics model); and (3) an ensemble model combining the two models (ensemble model).

Exploring Locality in Molecular Dirac-Coulomb-Breit Calculations: A Perspective.

The Dirac-Coulomb-Breit (DCB) operator is widely recognized for its ability to accurately capture relativistic effects and spin-physics in molecular calculations. However, due to its high computational cost, there is a need to develop low-scaling approximations without compromising accuracy. To tackle this challenge, it becomes essential to gain a deeper understanding of the DCB operator's behavior.

Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing.

In the study, we investigated the genetic etiology of the ventricular septal defect (VSD) and comprehensively evaluated the diagnosis rate of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) for VSD to provide evidence for genetic counseling. We carried out chromosomal microarray analysis (CMA) on 468 fetuses with VSD and exome sequencing (ES) on 51 fetuses. In our cohort, 68 (14.

The performance of a new type accelerator uRT-linac 506c evaluated by a quality assurance automation system.

Purpose: The purpose of this study was to evaluate the performance of our quality assurance (QA) automation system and to evaluate the machine performance of a new type linear accelerator uRT-linac 506c within 6 months using this system.

Methods: This QA automation system consists of a hollow cylindrical phantom with 18 steel balls in the phantom surface and an analysis software to process electronic portal imaging device (EPID) measurement image data and report the results. The performance of the QA automation system was evaluated by the tests of repeatability, archivable precision, detectability of introduced errors, and the impact of set-up errors on QA results.

Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations.

Background: Polycystic renal disease is a frequent congenital anomaly of the kidneys, but research using chromosomal microarray analysis and exome sequencing in fetuses with polycystic renal disease remains sparse, with most studies focusing on the multisystem or genitourinary system.

Objective: This study aimed to assess the detection rate of detectable genetic causes of fetal polycystic renal disease at different levels, novel disease-causing variants, and genotype-phenotype correlations.

Study Design: This study included 220 fetal polycystic renal disease cases from January 2014 to June 2022.

Functional analysis of a novel splice site variant in the ASAH1 gene.

Background: Acid ceramidase (ACDase) deficiency is an ultrarare autosomal recessive lysosomal disorder caused by pathogenic N-acylsphingosine amidohydrolase (ASAH1) variants. It presents with either Farber disease (FD) or spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).

Objective: The study aims to identify a novel splice site variant in a hydrops fetus that causes ASAH1-related disorder, aid genetic counseling, and accurate prenatal diagnosis.

Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.

(1) Purpose: Retrospective back-to-back comparisons were performed to evaluate the accuracy, effectiveness, and incremental yield of chromosome microarray analysis (CMA) and exome sequencing (ES) analysis in fetuses with digestive system malformations (DSMs). (2) Methods: In total, 595 women with fetal DSMs who underwent prenatal diagnosis were enrolled. We analyzed the diagnostic yields of CMA and ES and evaluated pregnancy outcomes.

Total marrow lymphoid irradiation IMRT treatment using a novel CT-linac.

Background: A novel CT-linac (kilovolt fan-beam CT-linac) has been introduced into total marrow and lymphoid irradiation (TMLI) treatment. Its integrated kilovolt fan-beam CT (kV FBCT) can be used not only for image guidance (IGRT) but also to re-calculate the dose.

Purpose: This study reported our clinical routine on performing TMIL treatment on the CT-linac, as well as dose distribution comparison between planned and re-calculated based on IGRT FBCT image sets.