reproducible-computational-workflow-for-drug-discovery-to-standardize

Reproducible Computational Workflow for Drug Discovery to Standardize Network Pharmacology and Molecular Docking Analyses

Network pharmacology and molecular docking are widely applied in drug discovery, yet fragmented workflows and inconsistent operations frequently undermine ...

Beijing University of Chinese Medicine

Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in the retinal pigmental epithelium (RPE) that resembled a "beaten-bronze" appearance. Peripheral venous blood was obtained from all patients and their family members for genetic analysis. Exome sequencing was used to analyze the exome of two patients II1, II2. A total of 50709 variations shared by the two patients were subjected to several filtering steps against existing variation databases. Identified variations were verified in all family members by PCR and Sanger sequencing. Compound heterozygous variants p.Y808X and p.G607R of the ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4) gene, which encodes the ABCA4 protein, a member of the ATP-binding cassette (ABC) transport superfamily, were identified as causative mutations for Stargardt disease of this family. Our findings provide one novel ABCA4 mutation in Chinese patients with Stargardt disease.

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

Residential instability during pregnancy has been linked to poor health outcomes. As a first step toward providing better health care to pregnant migrant women, the size and characteristics of this population and factors associated with mobility during pregnancy should be studied.

Mobility patterns and associated factors among pregnant internal migrant women in China: a cross-sectional study from a National Monitoring Survey.

Mammary hamartomas were mostly benign tumors with rare rate of recurrence and malignant transformation. Ultrasound (US)-guided vacuum-assisted breast biopsy (VABB) has been reported sufficiently safe in treating many breast benign tumors but remained undefined in mammary hamartoma for its usual underdiagnosis in US. Thus, this study aims to evaluate the efficiency of US-guided VABB in treating mammary hamartomas.

Mammary hamartoma: is ultrasound-guided vacuum-assisted breast biopsy sufficient for its treatment?

POU3F4 is the causative gene for X-linked deafness-2 (DFNX2), characterized by incomplete partition type III (IP-III) malformation of the inner ear. The purpose of this study was to investigate the clinical characteristics and molecular findings in IP-III patients by Sanger or nanopore single-molecule sequencing.

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.

The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss.

A novel  c.68delC variant is associated with progressive hearing loss in Chinese population and literature review.

The breast imaging reporting and data system (BI-RADS) lexicon provides a standardized terminology for describing leision characteristics but does not provide defined rules for converting specific imaging features into diagnostic categories. The inter-reader agreement of the BI-RADS is moderate. In this study, we explored the use of a simplified protocol and scoring system for BI-RADS categorization which integrates the morphologic features (MF), kinetic time-intensity curve (TIC), and apparent diffusion coefficient (ADC) values with equal weights, with a view to providing a convenient and practical method for breast magnetic resonance imaging (MRI) and improving the inter-reader agreement and diagnostic performance of BI-RADS.

A simplified scoring protocol to improve diagnostic accuracy with the breast imaging reporting and data system in breast magnetic resonance imaging.

Regardless of histological grade, phyllodes tumors (PTs) exhibit the potential of local recurrence. The National Comprehensive Cancer Network (NCCN) recommends wide local excision (WLE) with a 1 cm margin or more for borderline/malignant PTs but excisional biopsy for benign PTs. However, the treatment of benign PTs remains controversial and the clinicopathologic risk factors for the local recurrence is still unclear.

Surgical management and prognosis of phyllodes tumors of the breast.

Breast ultrasound-guided vacuum-assisted excision (US-VAE) has become a scarless solution for the removal of benign breast lesions. This procedure is now favored by more and more female patients for its satisfactory cosmetic outcome and few postoperative complications. However, controversy have been raised regarding its efficacy and safety in treating larger benign breast lesions. This study aimed to evaluate whether US-VAE is sufficient for the treatment of clinical benign breast lesions larger than 3 cm and to investigate the lesion features that affect the complete excision rate and hematoma occurrence rate.

Efficacy and safety of percutaneous ultrasound-guided vacuum-assisted excision for the treatment of clinical benign breast lesions larger than 3 cm: a retrospective cohort study.

The objective of this study was to conduct a systematic review and meta-analysis to identify the adverse effects of acute PM2.5 exposure on lung function in children.

Effect of Acute PM2.5 Exposure on Lung Function in Children: A Systematic Review and Meta-Analysis.

Weak absorption contrast in biological tissues has hindered x-ray computed tomography from accessing biological structures. Recently, grating-based imaging has emerged as a promising solution to biological low-contrast imaging, providing complementary and previously unavailable structural information of the specimen. Although it has been successfully applied to work with conventional x-ray sources, grating-based imaging is time-consuming and requires a sophisticated experimental setup. In this work, we demonstrate that a deep convolutional neural network trained with a generative adversarial network can directly convert x-ray absorption images into differential phase-contrast and dark-field images that are comparable to those obtained at both a synchrotron beamline and a laboratory facility. By smearing back all of the virtual projections, high-quality tomographic images of biological test specimens deliver the differential phase-contrast- and dark-field-like contrast and quantitative information, broadening the horizon of x-ray image contrast generation.

Virtual differential phase-contrast and dark-field imaging of x-ray absorption images via deep learning.

This research aims to assess the effectiveness and cost-effectiveness of pre-pregnancy deafness screening policies.

A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China.

Universal newborn hearing screening (UNHS) is recognized as the most effective strategy for early detection of congenital hearing loss; however, screening coverage remains inadequate in many countries. In China, newborn hearing screening has been implemented for over two decades. To evaluate our policies and practices during this period and assess resource equity, health impacts, and future challenges, we conducted a nationwide survey focusing on newborn hearing screening coverage, the number of special schools for deaf-mutes, and the proportion of hearing-impaired students in mainstream education. From 2001 to 2020, China's UNHS program coverage increased from 10.9% to 94.3%, while the proportion of hearing-impaired students in mainstream education rose from 24.8% to 57.5%. Concurrently, the number of hearing-impaired students in special schools decreased from 76,554 to 34,945, and the number of special schools for deaf-mutes declined from 639 to 389. Through the implementation of the UNHS program, China has made substantial progress in improving newborn hearing health, yielding long-term benefits for those with congenital hearing loss. However, targeted resource allocation and the establishment of a national platform remain priorities for future development. Our experience may provide valuable insights for similar settings.

Implementation of Universal Newborn Hearing Screening and Analysis of School Enrollment Among Hearing-Impaired Students in China.

Emerging evidence highlights the critical role of visceral adiposity in the pathogenesis of hypertension, with the Metabolic Score for Visceral Fat (METS-VF) emerging as a novel biomarker that requires validation in Chinese populations.

Association between the Metabolic Score for Visceral Fat (METS-VF) and incident hypertension in middle-aged and older Chinese adults: a nationwide prospective cohort study.

Article	Year
Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease. PloS one\| PubMed ID: 24632595	2014
Mobility patterns and associated factors among pregnant internal migrant women in China: a cross-sectional study from a National Monitoring Survey. BMC pregnancy and childbirth\| PubMed ID: 29764425	2018
Mammary hamartoma: is ultrasound-guided vacuum-assisted breast biopsy sufficient for its treatment? Gland surgery\| PubMed ID: 33224802	2020
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III. Orphanet journal of rare diseases\| PubMed ID: 35189936	2022
A novel c.68delC variant is associated with progressive hearing loss in Chinese population and literature review. Laryngoscope investigative otolaryngology\| PubMed ID: 35734045	2022
A simplified scoring protocol to improve diagnostic accuracy with the breast imaging reporting and data system in breast magnetic resonance imaging. Quantitative imaging in medicine and surgery\| PubMed ID: 35782247	2022
Surgical management and prognosis of phyllodes tumors of the breast. Gland surgery\| PubMed ID: 35800748	2022
Efficacy and safety of percutaneous ultrasound-guided vacuum-assisted excision for the treatment of clinical benign breast lesions larger than 3 cm: a retrospective cohort study. Annals of translational medicine\| PubMed ID: 36660716	2022
Effect of Acute PM2.5 Exposure on Lung Function in Children: A Systematic Review and Meta-Analysis. Journal of asthma and allergy\| PubMed ID: 37193111	2023
Virtual differential phase-contrast and dark-field imaging of x-ray absorption images via deep learning. Bioengineering & translational medicine\| PubMed ID: 38023711	2023
A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China. Frontiers in public health\| PubMed ID: 38131025	2023
Implementation of Universal Newborn Hearing Screening and Analysis of School Enrollment Among Hearing-Impaired Students in China. China CDC weekly\| PubMed ID: 40104756	2025
Association between the Metabolic Score for Visceral Fat (METS-VF) and incident hypertension in middle-aged and older Chinese adults: a nationwide prospective cohort study. BMC public health\| PubMed ID: 41618257	2026

Zhili Wang

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