Publications by authors named "Qing Ke"

Background: Familial hypercholesterolemia (FH) is an inherited disorder mainly marked by increased low-density lipoprotein cholesterol (LDL-C) concentrations and a heightened risk of early-onset arteriosclerotic cardiovascular disease (ASCVD). This study seeks to characterize the genetic spectrum and genotype‒phenotype correlations of FH in Chinese pediatric individuals.

Methods: Data were gathered from individuals diagnosed with FH either clinically or genetically at multiple hospitals across mainland China from January 2016 to June 2024.

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Introduction: The prognostic value of 18F-FDG PET/CT metabolic parameters, such as metabolic tumor volume (MTV) and total lesion glycolysis (TLG), in diffuse large B-cell lymphoma (DLBCL) remains inadequately explored. This study aims to assess the correlation between these parameters and patient outcomes.

Methods: A cohort of 156 DLBCL patients underwent 18F-FDG PET/CT imaging at baseline and after 3-4 cycles of R-CHOP or CHOP-like regimen.

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Background: GlcNAc2-epimerase (GNE) myopathy is a rare autosomal recessive disorder caused by pathogenic variants in the gene, which is essential for the sialic acid biosynthesis pathway.

Objective: This multi-centre study aimed to delineate the clinical phenotype and variant spectrum in Chinese patients, enhancing our understanding of the genetic diversity and clinical manifestation across different populations.

Methods: We retrospectively analysed variants from 113 patients, integrating these data with external variants from online databases for a global perspective, examining their consequences, distribution, ethnicity and severity.

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Article Synopsis
  • - This study analyzed the effectiveness and safety of CAR-T therapy for B-cell lymphoma by reviewing published literature and conducting a meta-analysis of the data.
  • - Axi-cel showed better objective response rates and survival compared to tisa-cel, with significant statistical differences, while also having a lower partial response rate.
  • - However, axi-cel was associated with higher rates of adverse effects, specifically cytokine release syndrome (CRS) and immune-related neurotoxicity (ICANS), compared to tisa-cel.
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Background: Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease.

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Late-onset Pompe disease (LOPD) is caused by a genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to progressive limb-girdle weakness and respiratory impairment. The insidious onset of non-specific early symptoms often prohibits timely diagnosis. This study aimed to validate the high-risk screening criteria for LOPD in the Chinese population.

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Background: Symptoms of depression and anxiety are common complications of narcolepsy. Earlier studies have shown that narcolepsy type 1 (NT1) is an autoimmune inflammatory disease and symptoms of depression and anxiety are closely related to fluctuations in inflammatory cytokines. The objective of the current research was to investigate the potential correlation between cytokines and symptoms of depression and anxiety in patients with NT1.

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Background: Colorectal cancer (CRC) is one of the most commonly diagnosed cancers in the world. Mitophagy is associated with tumorigenesis and development of malignancy. However, the specific role of mitophagy has yet not been systematically explored in CRC.

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Background: As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical characteristics of Chinese Han DM1 patients.

Methods: Based on the multicenter collaborating effort of the Pan-Yangtze River Delta Alliance for Neuromuscular Disorders, patients with suspected clinical diagnoses of DM1 were genetically confirmed from January 2020 to April 2023.

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Article Synopsis
  • Myasthenia gravis (MG) is an autoimmune disorder that affects the neuromuscular junction, and new treatments like efgartigimod and rozanolixizumab have shown promise in reducing symptoms by lowering IgG levels.
  • The study aimed to evaluate the effect and safety of a new monoclonal antibody called batoclimab in patients with generalized MG through a randomized clinical trial involving 132 adults across 27 centers in China.
  • Results indicated that batoclimab significantly improved patient outcomes, with 58.2% of treated patients achieving sustained improvement in daily activities compared to 31.3% in the placebo group, making the drug a potentially effective treatment option for MG.
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We investigated the functional mechanism of long non-coding small nucleolar host gene 17 (SNHG17) in diffuse large B-cell lymphoma (DLBCL). lncRNAs related to the prognosis of patients with DLBCL were screened to analyze long non-coding small nucleolar host gene 17 (SNHG17) expression in DLBCL and normal tissues, and a nomogram established for predicting DLBCL prognosis. SNHG17 expression in B-cell lymphoma cells was detected using qPCR.

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The impact of a scientific publication is often measured by the number of citations it receives from the scientific community. However, citation count is susceptible to well-documented variations in citation practices across time and discipline, limiting our ability to compare different scientific achievements. Previous efforts to account for citation variations often rely on a priori discipline labels of papers, assuming that all papers in a discipline are identical in their subject matter.

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After investigating the behavior of ions during the growth of conductive filaments, we suggested a model for the growth process and electrical characteristics of the conductive filament under current-driven mode. In this model, the ionic displacement equation is derived by Arrhenius law, and a differential equation for the conductive filament growth has been established. We have also proved that the dielectric layer with the leakage current under current-driven mode can be equivalent to a parallel plate capacitor, which has a the equivalent dielectric constant.

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Traditional Chinese medicine (TCM) has gradually played an indispensable role in people's health maintenance, especially in the treatment of chronic diseases. However, there is always uncertainty and hesitation in the judgment and understanding of diseases by doctors, which affects the status recognition and optimal diagnosis and treatment decision-making of patients. In order to overcome the above problems, we lead into probabilistic double hierarchy linguistic term set (PDHLTS) to accurately describe language information in traditional Chinese medicine and make decisions.

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It is daunting to determine the etiology of rapidly progressive dementia (RPD), which includes metabolic, neoplastic, infectious, autoimmune, neurodegenerative and other conditions. Herein, we illustrate an unusual case of a patient primarily exhibiting RPD, overlapping sleep dysfunction, psychosis and abnormal movement, which was finally defined as anti-IgLON5 disease, a novel and rare autoimmune encephalopathy. Furthermore, we longitudinally described his cognitive and psychological performance in detail, and determined that early initiation of immunotherapy in this patient did not result in a good outcome.

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Background: Rapidly progressive dementia (RPD) is a syndrome originating from various diseases. Recent advances have allowed a better understanding of its categories and spectrum; however, it remains challenging to make an accurate differential diagnosis and prognosis prediction.

Methods: This study was a retrospective evaluation of all participants admitted to the neurology department of a single center in China from January 2015 to December 2019.

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Background: Bacteria are readily nourished in airtight environments with high humidity, such as storage cabinets, clothing closets, and corners, where ventilation is normally low and humidity is high.

Objectives: We characterized the role of humidity and ventilation in bacterial growth and genus distribution at different temperatures (26 °C and 34 °C).

Methods: Fresh pork, which was used as the substrate for bacterial culture, was placed in storage cabinets.

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Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma in adults. Tumour microenvironment is closely related to tumour prognosis and immune checkpoint blocking therapy (ICBT). This study aimed to investigate the immunological and prognostic characteristics of the tumour microenvironment (TME), as well as the regulatory mechanisms.

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Introduction: The lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China.

Methods: Between August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China.

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The non-dystrophic myotonias are inherited skeletal muscle disorders characterized by skeletal muscle stiffness after voluntary contraction, without muscle atrophy. Based on their clinical features, non-dystrophic myotonias are classified into myotonia congenita, paramyotonia congenita, and sodium channel myotonia. Using whole-exome next-generation sequencing, we identified a L703P mutation (c.

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Background: Rapid-onset dystonia parkinsonism (RDP) is a rare disease caused by mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.

Objective: This study aimed to summarize the gene mutation spectrum of associated with RDP, and to explore the correlation of variants with RDP clinical phenotypes.

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Mentorship in science is crucial for topic choice, career decisions, and the success of mentees and mentors. Typically, researchers who study mentorship use article co-authorship and doctoral dissertation datasets. However, available datasets of this type focus on narrow selections of fields and miss out on early career and non-publication-related interactions.

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