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Article
Open AccessPhenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity
Autoimmunity is a significant feature of APDS1 patients. We aimed to explore the pathogenic immune phenotype and possible mechanisms of autoimmunity in APDS1 patients.
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Article
Open AccessNintedanib administration after the onset of acute exacerbation of interstitial lung disease in the real world
Nintedanib reduces the decline in forced vital capacity and extends the time to the first acute exacerbation of interstitial lung disease (AE-ILD). However, the effect of additional nintedanib administration a...
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Article
Open AccessNomogram for Predicting Early Mortality after Umbilical Cord Blood Transplantation in Children with Inborn Errors of Immunity
Pediatric patients with inborn errors of immunity (IEI) undergoing umbilical cord blood transplantation (UCBT) are at risk of early mortality. Our aim was to develop and validate a prediction model for early m...
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Article
Open AccessDeep learning-based prediction of mandibular growth trend in children with anterior crossbite using cephalometric radiographs
It is difficult for orthodontists to accurately predict the growth trend of the mandible in children with anterior crossbite. This study aims to develop a deep learning model to automatically predict the mandi...
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Article
Open AccessVariant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort
We aimed to report the clinical and immunological characteristics of variant type X91+ chronic granulomatous disease (CGD) in a Chinese cohort.
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Article
Open AccessChromosomal abnormalities related to fever of unknown origin in a Chinese pediatric cohort and literature review
Fever of unknown origin (FUO) has been difficult to diagnose in pediatric clinical practice. With the gradual change in the disease spectrum, genetic factors have received increasing attention. Limited studies...
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Article
Open AccessReduced frequencies of Foxp3+GARP+ regulatory T cells in COPD patients are associated with multi-organ loss of tissue phenotype
Expression of glycoprotein A dominant repeat (GARP) has been reported to occur only in activated human naturally occurring regulatory T cells (Tregs) and their clones, and not in activated effector T cells, in...
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Article
Open AccessDynamic alterations in the lung microbiota in a rat model of lipopolysaccharide-induced acute lung injury
The lung microbiota have been found to be substantially altered in numerous pulmonary disorders, and crosstalk between the host pathophysiology and lung microbiota plays critical roles in the regulation of dis...
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Article
Open AccessEfficacy of tocilizumab therapy in a patient with severe pancytopenia associated with a STAT3 gain-of-function mutation
We aimed to report the clinical characteristics, immunological features, and treatment of one patient with a de novo STAT3 gain-of-function mutation identified by next generation sequencing. We investigated th...
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Article
Open AccessThe clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations
Loss-of-function (LOF) mutations in signal transducer and activator of transcription 3 (STAT3) is one of the causes of STAT3 hyperimmunoglobulin E (IgE) syndrome (STAT3-HIES), while gain-of-function (GOF) muta...
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Article
Open AccessLIG4 syndrome: clinical and molecular characterization in a Chinese cohort
DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic...
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Article
Open AccessComplete regression of pulmonary squamous carcinoma in IPF following gemcitabine plus cisplatin: a case report and literature review
Lung cancer is one of the most common co-morbid conditions in patients with idiopathic pulmonary fibrosis (IPF) and negatively affects the prognosis of IPF; Current guidelines for the management of IPF do not ...
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Article
Open AccessLDMC design for low complexity MIMO detection and efficient decoding
Low-density multiple-input multiple-output code (LDMC) can reduce the complexity of tree-search detection in MIMO systems. In this paper, we present a new modified progressive edge-growth (PEG) algorithm to co...
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Article
Open AccessOn the performance of an enhanced transmission scheme for cooperative relay networks with NOMA
In this paper, an enhanced transmission scheme for cooperative relaying networks with non-orthogonal multiple access (ECRN-NOMA) is proposed. In the proposed scheme, two different kinds of transmission schemes...
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Article
Open AccessGenome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population
Ventricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number...
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Article
Open AccessMicroRNA-143 Regulates Adipogenesis by Modulating the MAP2K5–ERK5 Signaling
A better understanding of the molecular mechanisms that regulate adipose tissue-derived stromal cell (ADSC) differentiation could provide new insight into some adipose-tissue-related disease. The differentiati...
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Article
Open AccessMammary inflammation around parturition appeared to be attenuated by consumption of fish oil rich in n-3 polyunsaturated fatty acids
Mastitis endangers the health of domestic animals and humans, and may cause problems concerning food safety. It is documented that n-3 polyunsaturated fatty acids (PUFA) play significant roles in attenuating s...
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Article
A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population
Homocysteine is an independent risk factor for various cardiovascular diseases. There are two ways to remove homocysteine from embryonic cardiac cells: remethylation to form methionine or transsulfuration to f...
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Article
Open AccessDisturbance of the OPG/RANK/RANKL pathway and systemic inflammation in COPD patients with emphysema and osteoporosis
Osteoporosis is one of the systemic features of COPD. A correlation between the emphysema phenotype of COPD and reduced bone mineral density (BMD) is suggested by some studies, however, the mechanisms underlyi...
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Article
Open AccessExperimental Evaluation of TCP-Based DTN for Cislunar Communications in Presence of Long Link Disruption
Delay/disruption tolerant networking (DTN) technology is considered a new solution to highly stressed communications in space environments. To date, little work has been done in evaluating the effectiveness an...
