A5012063967- Tuberculosis Research and Epidemiology
- Neurogenetic and Muscular Disorders Research
- Radiomics and Machine Learning in Medical Imaging
- Mycobacterium research and diagnosis
- Diagnosis and treatment of tuberculosis
- Genetic Neurodegenerative Diseases
- Amyotrophic Lateral Sclerosis Research
- Myasthenia Gravis and Thymoma
- Hepatocellular Carcinoma Treatment and Prognosis
- MRI in cancer diagnosis
- Infectious Diseases and Tuberculosis
- Liver Disease Diagnosis and Treatment
- Glycogen Storage Diseases and Myoclonus
- Thyroid and Parathyroid Surgery
- Radiation Dose and Imaging
- Neurological diseases and metabolism
- Heme Oxygenase-1 and Carbon Monoxide
- RNA Research and Splicing
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Cardiovascular Health and Risk Factors
- Hemostasis and retained surgical items
- Renal cell carcinoma treatment
Shimane University
2025
Peking University First Hospital
2025
Peking University
2018-2025
Hunan Province Chest Hospital
2020-2024
Central South University
2024
Nanchang University
2015-2024
Third Affiliated Hospital of Harbin Medical University
2021-2024
Harbin Medical University
2021-2024
First Affiliated Hospital of Nanchang University
2015-2022
Hainan University
2022
Abstract Objective Trinucleotide GGC repeat expansion in the 5’UTR of NOTCH2NLC gene has been recognized as pathogenesis neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study aimed to address possibility might be associated cases diagnosed MSA. Methods A total 189 probable or possible MSA were recruited screen for by repeat‐primed PCR (RP‐PCR). In...
Recent studies have elucidated the role of lysine-specific demethylase 1 (LSD1), a member histone demethylases, in epigenetic regulation tumor suppressing/promoting genes and neoplastic growth. However, expression LSD1 patients with esophageal squamous cell carcinoma (ESCC) is still unknown. Here, we reported that was elevated cancerous tissue correlated lymph node metastasis poorer overall survival ESCC. Compared to EC109 cells, unregulated aggressive cancer lines KYSE450 KYSE150. Knockdown...
Abstract Background Mutations in the fused sarcoma (FUS) gene have been associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor. Among FUS mutations, p.P525L as a hot spot variant has reported more than 20 patients ALS. Apart from typical ALS phenotype, mutation exhibit some atypical symptoms. However, movement disorders related to not emphasized currently. Methods Two unrelated were evaluated through set of clinical laboratory tests. The...
Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration peripheral nerves, while only 20.0-47.8% dHMN patients are genetically identified. Recently, GGC expansion in the 5'UTR NOTCH2NLC has been associated with dHMN. Accordingly, short tandem repeat (STR) should be further explored unsolved dHMN.A total 128 from 90 unrelated families were clinically diagnosed as dHMN, and underwent comprehensively genetic screening. Skin biopsies...
ABSTRACT Aims Exploring fibrosis index‐4 (FIB‐4)'s predictive value for HBV‐related hepatocellular carcinoma (HCC) in assessing recurrence following stereotactic body radiation therapy (SBRT) patients with HCC. Methods HCC who underwent SBRT were retrospectively enrolled from March 2012 to 2020. Patients divided into and non‐recurrence groups based on the situation. Baseline data collected all before treatment at 3 6 months after treatment, FIB‐4 was calculated corresponding time points....
This study aimed to differentially diagnose thyroid nodules (TNs) of Thyroid Imaging Reporting and Data System (TI-RADS) 3-5 categories using a deep learning (DL) model based on multimodal ultrasound (US) images explore its auxiliary role for radiologists with varying degrees experience.Preoperative US 1,138 TNs TI-RADS were randomly divided into training set (n = 728), validation 182), test 228) in 4:1:1.25 ratio. Grayscale (GSU), color Doppler flow imaging (CDFI), strain elastography (SE),...
Purpose: Using a combination model of preoperative imaging and clinical factors to predict non-transplantable recurrence (NTR) after liver resection assist solitary hepatocellular carcinoma (HCC) patients in the selection early treatment options. Patients Methods: A retrospective analysis was conducted on 253 HCC who underwent radical had MRI. NTR were defined as those exceeding University California, San Francisco (UCSF) criteria at time recurrence. Cox regression employed identify...
This study aimed to investigate the epidemiological and drug resistance (DR) characteristics of extrapulmonary tuberculosis (EPTB) in South-Central China.
Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropathy. However, no patients of MADD mimicking the GBS phenotype are reported previously. Two displayed limb weakness, areflexia, length-dependent sensory disturbances, which clinically indicate diagnosis GBS, but electrophysiological cerebrospinal fluid results threw doubtful points...
Abstract Introduction Mutations in the GFPT1 gene are associated with a particular subtype of congenital myasthenia syndrome (CMS) called limb‐girdle tubular aggregates. However, not all patients show aggregates muscle biopsy, suggesting diversity myopathology should be further investigated. Methods In this study, we reported two unrelated clinically characterized by easy fatigability, weakness, positive decrements repetitive stimulation, and response to pyridostigmine. The routine...
To investigate the value of conventional MRI and diffusion-weighted imaging (DWI) in diagnosing normal-sized pelvic lymph nodes metastases patients with cervical cancer.102 cancer who underwent DWI scan were included. 137 analyzed, including 44 metastatic (MLNs) 93 non-metastatic (non-MLNs). The morphology apparent diffusion coefficient (ADC) measured short-axis diameter (DS), long-axis (DL), ratio short-to-long-axis (DR), fatty hilum, asymmetry, ADCmax, ADCmean ADCmin. Mann-Whitney U-test,...
Abstract Background We performed a prospective multicentre diagnostic study to evaluate the combined interferon-γ (IFN-γ) and interleukin-2 (IL-2) release assay for detect active pulmonary tuberculosis (TB) in China. Methods Adult patients presenting symptoms suggestive of TB were consecutively enrolled three TB-specialized hospitals. Sputum specimens blood sample collected from each participant at enrolment. The levels Mycobacterium (MTB)-specific antigen-stimulated IFN-γ IL-2 determined...
Objectives To investigate the clinical epidemiological and drug resistance (DR) characteristics of lymph node tuberculosis (LNTB) in Hunan Province which locates South-central China, to provide scientific clues for effective prevention treatment LNTB. Methods We retrospectively collected LNTB patients with Mycobacterium culture positive at Chest Hospital, biggest TB reference hospital from January 2013 December 2021. The multiple demographic, susceptibility data were hospital’s electronic...
Abstract Introduction/Aims Oculopharyngodistal myopathy type 4 (OPDM4) arises from a CGG repeat expansion in the 5′ UTR of RILPL1 gene. Reported cases OPDM4 have been limited. The aim this study was to investigate clinical and myopathological characteristics patients with advanced disease. Methods We assessed total 8 affected 12 unaffected individuals an family autosomal dominant inheritance. Muscle biopsy tissue proband underwent histological, enzyme histochemical, immunohistochemical...
<b><i>Background:</i></b> Adult adrenomyeloneuropathy (AMN) is caused by mutations in the <i>ABCD1</i> gene. Some pure AMN patients develop cerebral demyelination late life. However, hypoplasia and agenesis of corpus callosum (CC) has never been reported patients. <b><i>Objective:</i></b> To describe a new clinical variant that possibly novel gene mutation. <b><i>Methods:</i></b> A total 10 members an...
Abstract Background Heteroplasmic mitochondrial 3697G>A mutation has been associated with leber hereditary optic neuropathy (LHON), encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), LHON/MELAS overlap syndrome. However, homoplasmic m.3697G>A was only found in a family Leigh syndrome, the phenotype pathogenicity of this still need to be investigated new patients. Methods The clinical interviews were conducted 12 individuals from multiple‐generation inherited family....
This study investigated the predictive value of apparent diffusion coefficient (ADC) histogram parameters primary tumor for regional lymph node metastasis (LNM) in pathological T3 stage rectal cancer.We retrospectively studied 175 patients with cancer who underwent preoperative MRI, including diffusion-weighted imaging, between January 2015 and October 2017. Based on analysis surgical specimens, 113 were classified into LN- group 62 LN+ group. We analyzed clinical data, radiological...
Objective: To analyze the compliance and related factors of low-dose computed tomography (LDCT) screening among high-risk population lung cancer in three provinces participating early diagnosis treatment program urban areas China. Methods: From October 2017 to 2018, 17 983 people aged between 40 74 years old at high risk were recruited from Zhejiang, Anhui Liaoning provinces. The basic demographic characteristics, living habits, history disease family collected by using a assessment...
Heterozygous variants in the bicaudal D homolog 2 gene (BICD2) are associated with autosomal dominant spinal muscular atrophy lower extremity predominance (SMALED2). This disease is usually characterized by congenital or early-onset muscle weakness and of extremities benign slow progression. We herein described an inherited pedigree SMALED2 which affected individuals presented late adult-onset wasting extremities. Obviously asymmetrical involvement limbs was observed 3 individuals. Muscle...
Studies have demonstrated that fibrinogen-like protein 2 (Fgl2) has been involved in immune and inflammatory responses which might contribute to the pathogenesis of immune-mediated diseases. Experimental autoimmune myocarditis (EAM) provided a model mimics pathophysiology human giant cell myocarditis. We observed effect Fgl2 overexpression on heart function rats using echocardiography detected level cytokines enzyme-linked immunosorbent assay. decreased EAM rat, increased infiltrations,...
Introduction: Spinocerebellar ataxia type 36 (SCA36) is caused by large GGCCTG repeat expansion in the NOP56 gene. The genetic diagnosis based on Southern blot expensive and time-consuming. This study aimed to evaluate reliability effectiveness of whole exome sequencing (WES) for routine suspected SCA36 patients. Methods: Pathogenic expansions SCAs including were first analyzed WES data using ExpansionHunter five probands from SCA families, then results confirmed triplet primed polymerase...