A Reconstruction Algorithm for Blade Surface Based on Less Measured Points

A reconstruction algorithm for blade surface from less measured points of section curves is given based on B-spline surface interpolation. The less measured points are divided into different segments by the key geometric points and throat points which are defined according to design concepts. The segmentations are performed by different fitting algorithms with consideration of curvature continuity as their boundary condition to avoid flow disturbance. Finally, a high-quality reconstruction surface model is obtained by using the B-spline curve meshes constructed by paired points. The advantage of this algorithm is the simplicity and effectivity reconstruction of blade surface to ensure the aerodynamic performance. Moreover, the obtained paired points can be regarded as measured points to measure and reconstruct the blade surface directly. Experimental results show that the reconstruction blade surface is suitable for precisely representing blade, evaluating machining accuracy, and analyzing machining allowance

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti-IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder

Phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in X-Linked compared with autosomal recessive chronic granulomatous disease

BACKGROUND : Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI), characterised by recurrent bacterial and fungal infections. It is inherited either in an Xlinked (XL) or autosomal recessive (AR) mode. Phenome refers to the entire set of phenotypes expressed, and its study allows us to generate new knowledge of the disease. The objective of the study is to reveal the phenomic differences between XL and AR-CGD by using Human Phenotype Ontology (HPO) terms. METHODS : We collected data on 117 patients with genetically diagnosed CGD from Asia and Africa referred to the Asian Primary Immunodeficiency Network (APID network). Only 90 patients with sufficient clinical information were included for phenomic analysis. We used HPO terms to describe all phenotypes manifested in the patients. RESULTS : XL-CGD patients had a lower age of onset, referral, clinical diagnosis, and genetic diagnosis compared with AR-CGD patients. The integument and central nervous system were more frequently affected in XL-CGD patients. Regarding HPO terms, perianal abscess, cutaneous abscess, and elevated hepatic transaminase were correlated with XL-CGD. A higher percentage of XL-CGD patients presented with BCGitis/BCGosis as their first manifestation. Among our CGD patients, lung was the most frequently infected organ, with gastrointestinal system and skin ranking second and third, respectively. Aspergillus species, Mycobacterium bovis, and Mycobacteirum tuberculosis were the most frequent pathogens to be found. CONCLUSION : Phenomic analysis confirmed that XL-CGD patients have more recurrent and aggressive infections compared with AR-CGD patients. Various phenotypic differences listed out can be used as clinical handles to distinguish XL or AR-CGD based on clinical features.The Society for Relief of Disabled Children and Jeffrey Modell Foundation.https://www.frontiersin.org/journals/immunologydm2022Paediatrics and Child Healt

Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

Supporting data for Development of a novel enrichment panel for sequencing and a tailored data analysis pipeline for molecular diagnosis of primary immunodeficiencies

This EXCEL file contains two sheets. The first sheet contains the metadata of the molecular diagnosis result from a batch of primary immunodeficiency patients. The content is confidential and contains information about patients.  The second sheet contains a link and a path to the filesystem of the HKU CPOS HPCF2 server. Both direct to a repository containing all the source code used to perform molecular diagnosis of the patients recorded in the first sheet. The repository is currently not publicly available since the source code used to perform molecular diagnosis may be further used for future publications</p

A local regularization scheme of Cauchy problem for the Laplace equation on a doubly connected domain

Abstract The Cauchy problem of the Laplace equation is investigated for both exact and perturbed data on a doubly connected domain, i.e., the numerical reconstruction of the function value and the normal derivative value on a part of the boundary from the knowledge of exact or noisy Cauchy data on the remaining and accessible boundary, which is completely different from the Cauchy problem on a simply connected bounded region. We first establish the existence of a solution through the potential theory. By expressing the solution as a sum of single-layer potentials using boundary value condition, we get the integral equation systems about the density function on the boundary, and by applying local regularization scheme to the obtained integral equation systems, we get the regularization solution of the original problem. Some numerical results are presented to validate the applicability and effectiveness of the proposed method

Catalytic Removal of Volatile Organic Compounds over Porous Catalysts

In this review, we summarize the recent research progress on the preparation and catalytic performance of meso- and macroporous metal oxide or mixed metal oxide (including manganese oxides, cobalt oxides, iron oxides, chromium oxides, and perovskite-type oxides) catalysts and their supported transition metal and noble metal catalysts for the oxidative removal of typical volatile organic compounds (VOCs), which were prepared using the hard-templating and polyvinyl alcohol-protected reduction methods, respectively. Most of these porous catalysts performed well for the addressed reactions, which was associated with their surface areas, adsorbed oxygen species concentrations, low-temperature reducibility, interactions between noble metal or metal oxide and support as well as porous structures. In addition, the perspectives for developing high-performance catalytic materials and novel VOCs removal technologies are also proposed

Catalytic Removal of Volatile Organic Compounds over Porous Catalysts

In this review, we summarize the recent research progress on the preparation and catalytic performance of meso- and macroporous metal oxide or mixed metal oxide (including manganese oxides, cobalt oxides, iron oxides, chromium oxides, and perovskite-type oxides) catalysts and their supported transition metal and noble metal catalysts for the oxidative removal of typical volatile organic compounds (VOCs), which were prepared using the hard-templating and polyvinyl alcohol-protected reduction methods, respectively. Most of these porous catalysts performed well for the addressed reactions, which was associated with their surface areas, adsorbed oxygen species concentrations, low-temperature reducibility, interactions between noble metal or metal oxide and support as well as porous structures. In addition, the perspectives for developing high-performance catalytic materials and novel VOCs removal technologies are also proposed

Natural aporphine alkaloids: A comprehensive review of phytochemistry, pharmacokinetics, anticancer activities, and clinical application

Background: Cancer is the most common cause of death and is still a serious public health problem. Alkaloids, a class of bioactive compounds widely diffused in plants, especially Chinese herbs, are used as functional ingredients, precursors, and lead compounds in food and clinical applications. Among them, aporphine alkaloids (AAs), as an important class of isoquinoline alkaloids, exert a strong anticancer effect on multiple cancer types. Aim of review: This review aims to comprehensively summarize the phytochemistry, pharmacokinetics, and bioavailability of seven subtypes of AAs and their derivatives from various plants and highlight their anticancer bioactivities and mechanisms of action.Key Scientific Concepts of Review.The chemical structures and botanical diversity of AAs are elucidated, and promising results are highlighted regarding the potent anticancer activities of AAs and their derivatives, contributing to their pharmacological benefits. This work provides a better understanding of AAs and combinational anticancer therapies involving them, thereby improving the development of functional food containing plant-derived AA and the clinical application of AAs