Artificial Intelligence-Empowered Multistep Integrated Radiation Therapy Workflow for Nasopharyngeal Carcinoma.

Purpose: To establish an artificial intelligence (AI)-empowered multistep integrated (MSI) radiation therapy (RT) workflow for patients with nasopharyngeal carcinoma (NPC) and evaluate its feasibility and clinical performance.

Methods And Materials: Patients with NPC scheduled for MSI RT workflow were prospectively enrolled. This workflow integrates RT procedures from computed tomography (CT) scan to beam delivery, all performed with the patient on the treatment couch.

Value of noninvasive prenatal testing in the detection of rare fetal autosomal abnormalities.

Objectives: To evaluate the value of noninvasive prenatal testing (NIPT) in the screening of rare autosomal abnormalities and provide further support for the clinical application of NIPT.

Study Design: A total of 81,518 pregnant women who underwent NIPT at the Anhui Maternal and Child Health Hospital between May 2018 and March 2022 were selected. The high-risk samples were analyzed using amniotic fluid karyotype and chromosome microarray analysis (CMA), and the pregnancy outcomes were followed up.

Chromosomal microarray analysis versus noninvasive prenatal testing in fetuses with increased nuchal translucency.

Objective: To evaluate if the NT value of 2.5 mm ≤ NT < 3.0 mm is an appropriate indication for CMA tests among fetuses with isolated increased NT and NIPT is more suitable instead.

Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.

Purpose: The aim of this study was to assess the detection efficiency and clinical application value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in clinical samples from 39,002 prospective cases.

Methods: A total of 39,002 pregnant women who received NIPT by next-generation sequencing (NGS) with a sequencing depth of 6 M reads in our centre from January 2018 to April 2020 were enrolled. Chromosomal microarray analysis (CMA) was further used to diagnose suspected chromosomal aneuploidies and chromosomal microdeletion/microduplication for consistency assessment.

Quantitative Study on Solubility Parameters and Related Thermodynamic Parameters of PVA with Different Alcoholysis Degrees.

In recent years, inverse gas chromatography (IGC) and molecular dynamics simulation methods have been used to characterize the solubility parameters and surface parameters of polymers, which can provide quantitative reference for the further study of the surface and interface compatibility of polymer components in the future. In this paper, the solubility parameters and surface parameters of two kinds of common alcoholysis, PVA and PVA, are studied by using the IGC method. The accuracy of the solubility parameters obtained by the IGC experiment is verified by molecular dynamics simulation.

Iron phosphonate for highly efficient capture of U(VI) from acidic solution.

In this study, a novel, high surface area iron phosphonate (IP) for highly efficient adsorption of uranyl ion in acidic medium was described. The as-prepared IP was amorphous with its specific surface area and total pore volume as high as 268 m/g and 1.04 cm/g, respectively.

Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies.

Objective: To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies.

Materials And Methods: In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery.

Clinical application of noninvasive prenatal testing in the detection of fetal chromosomal diseases.

Objective: To assess the detection efficiency of noninvasive prenatal testing (NIPT) for fetal autosomal aneuploidy, sex chromosome aneuploidy (SCA), other chromosome aneuploidy, copy number variation (CNV), and to provide further data for clinical application of NIPT.

Materials And Methods: 25,517 pregnant women who underwent NIPT testing in Anhui Province Maternity and Child Health Hospital from September 2019 to September 2020 were selected, and samples with high-risk test results were subjected to karyotype analysis for comparison by using amniotic fluid, with some samples subjected to further validation by chromosomal microarray analysis, and followed up for pregnancy outcome.

Results: A total of 25,517 pregnant women who received NIPT, 25,502 cases were tested successfully, and 294 high-risk samples (1.

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.

Objective: To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases.

Materials And Methods: We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping.

A Novel Sex Chromosome Mosaicism 45,X/45,Y/46,XY/46,YY/47,XYY Causing Ambiguous Genitalia.

Sex chromosomal mosaicism has been considered as a major cause of human sexual differentiation disorders, like partial virilization and ambiguous genitalia. 45,X/46,XX, 45,X/46,XY and 46,XY/47,XXY are three most common sex chromosome mosaics associated with human ambiguous genitalia. Here, we report the case of a 3-year-old boy with ambiguous genitalia, bilateral cryptorchidism, and with an inguinal hernia.

Whole Exome Sequencing Identifies a Novel Mutation in the Gene, Causing Autosomal Dominant Congenital Cataracts in a Chinese Family.

Background: Congenital cataract is the cloudiness of the eye's natural lens and is a primary cause of congenital vision loss. It accounts for almost 10% of childhood vision loss worldwide.

Methods: A four generation Chinese family having seven affected individuals was recruited for the current study.

Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions.

Background: Chromosomal abnormalities are the most common cause of recurrent abortions and miscarriages (RAM), but micro-variations on chromosomes causing RAM have never been previously studied. Single nucleotide polymorphisms (SNPs) are the single nucleotide variations frequently present at genome with the density of at least one common (>20% allele frequency) SNP per kilobase pair. It has already been reported that SNP array examination for chromosomal abnormalities has better performance than the conventional cytogenetic karyotyping.

[Analyses of clinical features and efficacy of sudden deafness with vertigo and dizziness].

Objective: To investigate the clinical characteristics and the effect of drug treatment for sudden hearing loss with vertigo or dizziness.

Methods: In a prospective, randomized, single blinded randomized multicenter clinical study, patients with sudden deafness, ranging in age from 18 to 65 years old, with a duration less than 2 weeks, and with no any medical treatments were collected. In accordance with the hearing curve, those patients were divided into four types, i.

Pharyngeal wall floppiness: a novel technique to detect upper airway collapsibility in patients with OSAS.

Objective: To measure pharyngeal wall floppiness (PWF) under different pressures, a novel method and technique were introduced in the present study.

Study Design: A prospective clinical study.

Subjects And Methods: Forty-seven healthy subjects (32 male; mean age, 37.