Real-time and programmable transcriptome sequencing with PROFIT-seq.

The high diversity and complexity of the eukaryotic transcriptome make it difficult to effectively detect specific transcripts of interest. Current targeted RNA sequencing methods often require complex pre-sequencing enrichment steps, which can compromise the comprehensive characterization of the entire transcriptome. Here we describe programmable full-length isoform transcriptome sequencing (PROFIT-seq), a method that enriches target transcripts while maintaining unbiased quantification of the whole transcriptome.

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. In recent years, continuous discoveries of new ALS-causing genes have enhanced the understanding of the genotype-phenotype relationship in ALS, aiding in disease progression prediction and providing a more comprehensive basis for genetic diagnosis.

Methods: A total of 1672 ALS patients who visited the Neurology Department of Peking Union Medical College Hospital between January 2014 and December 2022 and met the revised El Escorial diagnostic criteria were included.

Impact of combination of intermittent theta burst stimulation and methadone maintenance treatment in individuals with opioid use disorder: A comparative study.

Prior studies indicate that subjects undergoing methadone maintenance therapy (MMT) may experience anxiety, depression and cravings. This study aimed to explore the impact of intermittent theta burst stimulation (iTBS)-MMT combination on craving and emotional symptoms of opioid use disorder. This comparative study included subjects with opioid use disorder at the Methadone Maintenance Clinic of Pudong New Area between September 2019 and March 2020.

A two-phase clustering approach for traffic accident black spots identification: integrated GIS-based processing and HDBSCAN model.

Identifying black spots effectively and accurately is a pivotal and challenging task to improve road traffic safety. A novel black spot identification model is proposed by integrating the GIS-based processing with hierarchical density-based spatial clustering of applications with noise. Additionally, the optimal clustering parameters are determined based on an internal validation indicator called the density-based clustering validation index to minimize the impact of subjectivity in parameter selection.

CASMART, a one-step CRISPR Cas12a-mediated isothermal amplification for rapid and high-resolution digital detection of rare mutant alleles.

Convenient, ultrasensitive, and accurate detection of rare variants is essential for early cancer diagnosis and precision medicine, however, despite years of efforts, tools that have all these qualities remain elusive. Here, we developed a one-step CRISPR/Cas12a-based digital diagnostic platform for accurately quantifying mutant alleles, referred to as the CRISPR ASsoaciated Mutation Allele Rapid Test (CASMART). The platform accurately quantifies the variant allele frequency of EGFR L858R within 1 h at 42 °C and can detect mutant targets as low as 0.

Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia.

Background: Studies have reported that a noncoding hexanucleotide repeat in C9ORF72, is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among Caucasian population, nevertheless it is rare in Chinese population. Therefore, we aimed to investigate the mutation spectrum of Chinese ALS patients with FTD (ALS-FTD).

Methods: ALS patients with and without cognitive impairments were enrolled.

Correlation of weight and body composition with disease progression rate in patients with amyotrophic lateral sclerosis.

This study aims to observe the nutritional status of Chinese patients with amyotrophic lateral sclerosis (ALS), further investigating its effect on disease progression. One hundred consecutive newly diagnosed ALS patients and fifty controls were included. Weight and body composition were measured by bioelectrical impedance analysis at baseline and follow-ups.

Association between abnormal expression and methylation of LGALS1 in amyotrophic lateral sclerosis.

Objective: DNA methylation has been identified to play an important role in amyotrophic lateral sclerosis (ALS). Galectin-1, encoded by LGALS1 gene, has been proved to be associated with ALS. We aimed to investigate the association between the expression and methylation of LGALS1 in blood samples from ALS patients.

Epigenome-wide DNA methylation study of whole blood in patients with sporadic amyotrophic lateral sclerosis.

Background: Epigenetics, and especially DNA methylation, contributes to the pathogenesis of sporadic amyotrophic lateral sclerosis (SALS). This study aimed to investigate the role of DNA methylation in SALS using whole blood of SALS patients.

Methods: In total, 32 SALS patients and 32 healthy controls were enrolled in this study.

Exploring the cellular landscape of circular RNAs using full-length single-cell RNA sequencing.

Previous studies have demonstrated the highly specific expression of circular RNAs (circRNAs) in different tissues and organisms, but the cellular architecture of circRNA has never been fully characterized. Here, we present a collection of 171 full-length single-cell RNA-seq datasets to explore the cellular landscape of circRNAs in human and mouse tissues. Through large-scale integrative analysis, we identify a total of 139,643 human and 214,747 mouse circRNAs in these scRNA-seq libraries.

Survival analysis of clinical and genetic factors in an amyotrophic lateral sclerosis cohort from China.

Objectives: To investigate the clinical and genetic factors influencing the survival of amyotrophic lateral sclerosis (ALS) patients in China.

Methods: Patients were enrolled in the study between December 2013 and December 2018. Clinical variables were recorded upon patient diagnosis.

Blood-brain barrier dysfunction and myelin basic protein in survival of amyotrophic lateral sclerosis with or without frontotemporal dementia.

Objective: We aim to investigate blood-brain barrier (BBB) dysfunction and myelin basic protein (MBP) in amyotrophic lateral sclerosis (ALS) with or without frontotemporal dementia (FTD) and further determine the effect of these factors on the survival of ALS.

Methods: This was a retrospective study of 113 ALS patients, 12 ALS-FTD patients, and 40 disease controls hospitalized between September 2013 and October 2020. CSF parameters including total protein (TP), albumin (Alb), immunoglobulin-G (IgG), and MBP were collected and compared between groups.

The Gold Coast criteria increases the diagnostic sensitivity for amyotrophic lateral sclerosis in a Chinese population.

Objectives: The aim of this study was to assess and compare the diagnostic utility of a new diagnostic criteria for amyotrophic lateral sclerosis (ALS), abbreviated as the 'Gold Coast Criteria', with the revised El Escorial (rEEC) and Awaji criteria.

Methods: Clinical and electrophysiological data of 1185 patients from January 2014 to December 2019 in the Peking Union Medical College Hospital ALS database were reviewed. The sensitivity of the Gold Coast criteria was compared to that of the possible rEEC and Awaji criteria (defined by the proportion of patients categorized as definite, probable, or possible ALS).

Association of apolipoprotein E ε4 allele and amyotrophic lateral sclerosis in Chinese population.

: Amyotrophic lateral sclerosis (ALS) has a complex genetic origin, and how immune dysregulation may contribute to ALS etiology remain unclear. Given the roles played by apolipoprotein E (APOE) signaling in neuroinflammation and neurodegeneration, an improved knowledge of the association between APOE genotypes and ALS risk in Chinese population may help to understand the underlying etiology of the disease. A retrospective case-control study with participants of Chinese ancestry was conducted, with a total of 683 ALS patients and 369 healthy controls analyzed for APOE genotypes using Sanger sequencing.

A prospective study on split-hand index as a biomarker for the diagnosis of amyotrophic lateral sclerosis.

To determine the practical diagnostic utility of split-hand index (SI) values calculated from F-wave persistence (SI) and the F/M amplitude ratio (SI) for differentiating patients with amyotrophic lateral sclerosis (ALS) from other conditions. : This prospective study recruited consecutive patients from Peking Union Medical College Hospital, China, between June 2019 and December 2019. Patients 18-80 years old who had clinical neuromuscular symptoms affecting the upper limbs and required electrophysiological examinations to aid diagnosis were eligible.

Mixed methods to explore factors associated with the decline of patients in the methadone maintenance treatment program in Shanghai, China.

Background: This study was to characterize the Methadone Maintenance Treatment (MMT) in Shanghai, China, and to explore factors associated with the decline of patients in MMT during 2005-2016.

Methods: Both qualitative and quantitative methods were used in this study. Based on the data from Shanghai Centers for Disease Control (CDC), we described the changes in the number of patients who received MMT, and new enrollment each year from 2005 to 2016.

Role of sLOX-1 in intracranial artery stenosis and in predicting long-term prognosis of acute ischemic stroke.

Objective: The role of sLOX-1 in acute ischemic stroke still remains unclear. This study aims to demonstrate the value of sLOX-1 in evaluating degrees of intracranial artery stenosis and to predict prognosis in stroke.

Methods: Two hundred and seventy-two patients were included in this study and basic data were collected within 72 hr on admission.

Prognostic value of serum thioredoxin levels in ischemic stroke.

Objectives: Thioredoxin (Trx) is one of significant antioxidative molecules to diminish oxidative stress. Current evidence suggests that Trx is a potent antioxidant with cytoprotective functions. The aim of our study was to investigate specifically the association between serum Trx levels and acute ischemic stroke (AIS) patients.

Left atrial size and risk of recurrent ischemic stroke in a Chinese population.

Background: Although a number of studies have reported the role of an increased left atrial (LA) size on stroke, limited data are collected about the relationship between LA enlargement and recurrent ischemic stroke in the Chinese population. Our aim was to assess the association of LA size with the risk of stroke recurrence, particularly with recurrent cardioembolic or cryptogenic stroke in ischemic stroke patients.

Methods: The study recruited 313 consecutive patients with acute first-ever ischemic stroke.

Prognostic factors of Bell's palsy and Ramsay Hunt syndrome.

The aim of this study was to compare clinical characteristics, electroneurography (ENoG) results, and functional outcomes of patients with Bell's palsy (BP) and Ramsay Hunt syndrome (RHS).Around 57 patients with BP and 23 patients with RHS were enrolled in this study from January 2010 and September 2015. Both clinical characteristics and ENoG results were recorded at hospital admission.

Soluble lectin-like oxidized low-density lipoprotein receptor-1 as a novel biomarker for large-artery atherosclerotic stroke.

Background: Serum soluble lectin-like oxidized low-density lipoprotein receptor-1 (sLOX-1) has been shown associated with the progression of atherosclerosis in endothelial cells. We sought to assess whether the baseline serum sLOX-1 levels are correlated with the presence and short-term functional outcome of large-artery atherosclerotic (LAA) stroke.

Methods: The study recruited 241 subjects, including 148 consecutive patients with acute ischemic stroke with the subtype of LAA and 93 non-stroke controls.

Neutrophil-to-Lymphocyte Ratio Is a Prognostic Marker in Acute Ischemic Stroke.

Background: Neutrophil-to-lymphocyte ratio is an independent predictor of mortality in patients with acute ischemic stroke. However, it is uncertain whether neutrophil-to-lymphocyte ratio is related with functional outcome and recurrent ischemic stroke. In this study, we aimed to investigate the relationship of neutrophil-to-lymphocyte ratio with stroke severity, functional outcome, and recurrent ischemic stroke after acute ischemic stroke.

Serum IL-33 Is a Novel Diagnostic and Prognostic Biomarker in Acute Ischemic Stroke.

Interleukin-33 (IL-33), a newly recognized IL-1 family member, is expressed in various tissues and cells, and involved in pathogenesis of many human diseases. For example, IL-33 plays a protective role in cardiovascular diseases. However, the role of IL-33 in acute ischemic stroke (AIS) remains unclear.