Case Report: Cancer spectrum and genetic characteristics of a de novo germline POLD1 p.L606M variant-induced polyposis syndrome

Germline variations in the DNA polymerase genes, POLE and POLD1, can lead to a hereditary cancer syndrome that is characterized by frequent gastrointestinal polyposis and multiple primary malignant tumors. However, because of its rare occurrence, this disorder has not been extensively studied. In this report, we present the case of a 22-year-old female patient who had been diagnosed with gastrointestinal polyposis, breast fibroadenoma, multiple primary colorectal cancers, and glioblastoma (grade IV) within a span of 4 years. Next-generation sequencing analysis revealed a germline variant in POLD1 (c.1816C>A; p.L606M). In silico analysis using protein functional predicting software, including SIFT, Polyphen, GERP++, and CADD, further confirmed the pathogenicity of POLD1 p.L606M (classified as ACMG grade Class 4). In line with polymerase deficiency, both rectal cancer and glioblastoma tissues exhibited a high tumor mutation burden, with 16.9 muts/Mb and 347.1 muts/Mb, respectively. Interestingly, the patient has no family history of cancer, and gene examination of both parents confirms that this is a de novo germline variant. Therefore, molecular screening for POLD1 may be necessary for patients with such a cancer spectrum, regardless of their family history

Aggregation-Induced Emission (AIE), Life and Health

Light has profoundly impacted modern medicine and healthcare, with numerous luminescent agents and imaging techniques currently being used to assess health and treat diseases. As an emerging concept in luminescence, aggregation-induced emission (AIE) has shown great potential in biological applications due to its advantages in terms of brightness, biocompatibility, photostability, and positive correlation with concentration. This review provides a comprehensive summary of AIE luminogens applied in imaging of biological structure and dynamic physiological processes, disease diagnosis and treatment, and detection and monitoring of specific analytes, followed by representative works. Discussions on critical issues and perspectives on future directions are also included. This review aims to stimulate the interest of researchers from different fields, including chemistry, biology, materials science, medicine, etc., thus promoting the development of AIE in the fields of life and health

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The Effect of Ultraviolet Wavelength on Corrosion Behavior of 7075 Aluminum Alloy in the Marine Atmospheric Environment

The influence of ultraviolet rays on the corrosion behavior of 7075 aluminum alloy in the marine atmosphere was studied by salt spray corrosion test. Electrochemical methods and surface analysis techniques were used to analyze and compare the corrosion laws of 7075 aluminum alloy in the marine atmosphere under ultraviolet radiation with wavelengths of 0 nm, 185 nm, 254 nm, and 365 nm. The results showed that ultraviolet light irradiation could promote the corrosion of 7075 aluminum alloy. Oxygen was prone to chemical reactions to form oxygen atoms after being irradiated by ultraviolet rays, and oxygen atoms recombined with oxygen to form ozone in the marine atmosphere. The 7075 aluminum alloy in the marine atmosphere accelerated corrosion due to the increasing ozone content. Although there were passivation films with different degrees of protection on the surface of aluminum alloy under ultraviolet irradiation, the surface of 7075 aluminum alloy in the marine atmosphere failed to form a stable passivation film after pitting, and the corrosion rate was the fastest when the ultraviolet wavelength was 185 nm

Enantioselective Synthesis of Polycyclic Indole Derivatives Based on aza-Morita–Baylis–Hillman Reaction

A chiral phosphine-catalyzed asymmetric aza-Morita–Baylis–Hillman reaction between indole-derived sulfonyl imines and bis­(3-chlorophenyl)­methyl acrylate has been developed, giving the desired adducts in good yields and enantiomeric excess values along with the further transformations to polycyclic indoles such as dihydropyrido­[1,2-<i>a</i>]­indole and dihydropyrazino­[1,2-<i>a</i>]­indole skeleton

High-operating-temperature mid-infrared photodetectors via quantum dot gradient homojunction

Colloidal quantum dot gradient homojunction would effectively improve the detectivity of mid-infrared photodetector at high-operating temperatures, motivating interest in low-cost, solution-processed and high-performance mid-infrared photodetection

Edit As You Wish: Video Description Editing with Multi-grained Commands

Automatically narrating a video with natural language can assist people in grasping and managing massive videos on the Internet. From the perspective of video uploaders, they may have varied preferences for writing the desired video description to attract more potential followers, e.g. catching customers' attention for product videos. The Controllable Video Captioning task is therefore proposed to generate a description conditioned on the user demand and video content. However, existing works suffer from two shortcomings: 1) the control signal is fixed and can only express single-grained control; 2) the video description can not be further edited to meet dynamic user demands. In this paper, we propose a novel Video Description Editing (VDEdit) task to automatically revise an existing video description guided by flexible user requests. Inspired by human writing-revision habits, we design the user command as a {operation, position, attribute} triplet to cover multi-grained use requirements, which can express coarse-grained control (e.g. expand the description) as well as fine-grained control (e.g. add specified details in specified position) in a unified format. To facilitate the VDEdit task, we first automatically construct a large-scale benchmark dataset namely VATEX-EDIT in the open domain describing diverse human activities. Considering the real-life application scenario, we further manually collect an e-commerce benchmark dataset called EMMAD-EDIT. We propose a unified framework to convert the {operation, position, attribute} triplet into a textual control sequence to handle multi-grained editing commands. For VDEdit evaluation, we adopt comprehensive metrics to measure three aspects of model performance, including caption quality, caption-command consistency, and caption-video alignment

The effect of urban morphological characteristics on the spatial variation of PM2.5 air quality in downtown Nanjing

Peer reviewe

Pilot study of centralized management system in Shanghai: A promising solution to platelet collection and supply imbalance in small blood banks

Background and Objectives: While there exists a significant wastage of platelets on one side (volatile demands and short lifetime), there is also a shortage for use on the other (lack of donors and emergency transfusions). A new centralized management system was established to tackle this dilemma. Methods: To assess the function of this system, data were collected from the Fengxian Blood Bank (FBB) Collection and Supply Information System during 2016 and 2018, then analyzed by IBM SPSS Statistics version 20. Results: Since implementing the centralized management system, a total of 1340 units of apheresis platelets were distributed by FBB. However, the number of units collected was 2737, twice as much as what had been distributed. With the aid of the system, the excess of 1644 units of apheresis platelets were transferred to the Shanghai Blood Center (SBC) inventory at their disposal. On the other hand, 247 units (included in 1340 distributed units) were compensated by SBC during the platelet shortage. In addition, the hospital demand meeting rate shows a significant increase from 82.61% to 99.78%, especially for type AB which increases from 62% to 100%. Conclusions: In conclusion, the centralized management system vastly improved the efficiency of platelet collection and distribution by the regional supply and demand. Such success would be a superb example of blood banks facing similar problems