Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.

Marfan syndrome (MFS) is a hereditary connective tissue disorder that is primarily caused by mutations in the fibrillin-1 () gene. This disease predominantly affects the eyes, bones, and cardiovascular system, with cardiovascular complications posing the most significant threat to life. Currently, conventional treatments, which are based on pharmacological management and surgical interventions, aim to slow disease progression and manage life-threatening cardiovascular complications.

Development and Internal Validation of a Clinical Imaging-Based Stroke Prediction Model in a Community Cohort.

Background: Existing stroke prediction models tend to overestimate contemporary stroke risk and inadequately incorporate neuroimaging parameters. This study aimed to develop a novel and accurate stroke prediction model for a community-based population by integrating comprehensive neuroimaging data.

Methods: A prospective cohort study was conducted involving 1586 eligible participants from northern rural China.

Association of Serum Neurofilament Light and Glial Fibrillary Acidic Protein with Cerebral Small Vessel Disease in Nondemented Middle-to-Old Aged Population.

Neurofilament light chain (NfL) and brain glial fibrillary acidic protein (GFAP) are promising markers for cerebral vascular damage. We aimed to evaluate if increased serum NfL and GFAP were associated with cerebral small vessel disease (CSVD) markers among the nondemented middle-to-old aged population. We included participants from the Shunyi Study who had serum NfL and GFAP measurements.

The association between long-term trajectories of insulin resistance and brain structural integrity in middle-aged and older adults.

BackgroundThe triglyceride-glucose (TyG) index is considered a robust surrogate for insulin resistance (IR). The relationship between the trajectory patterns of the TyG index and subsequent brain structure changes is still unclear.ObjectiveThis study investigates the relationship between 10-year trajectories of TyG-related indices and brain structural integrity in a 10-year follow-up.

Incidence and risk factors of medical adhesive-related skin injuries in outpatients with peripherally inserted central catheters.

Aims: Skin exposed to the adhesives to protect catheters is prone to Medical Adhesive-Related Skin Injuries (MARSI). Occurrence of these injuries and the risk factors have not been estimated previously in outpatients with peripherally inserted central catheters. The primary aim of this study was to delineate the characteristics of MARSI and quantify 3 types of incidence rates of MARSI among outpatients with PICC placements.

Risk factor differences in five-year progression of Intracranial artery stenosis and cerebral small vessel disease in general population.

Background: Intracranial artery stenosis (ICAS) and cerebral small vessel disease (CSVD) are associated with a heavy socioeconomic burden; however, their longitudinal changes remain controversial.

Methods: We conducted a longitudinal analysis on 756 participants of Shunyi Cohort who underwent both baseline and follow-up brain magnetic resonance imaging (MRI) and MR angiography in order to investigate the risk factors for ICAS and CSVD progression in community population. Incident ICAS was defined as new stenosis occurring in at least one artery or increased severity of the original artery stenosis.

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by mutations affecting the number of cysteines. The pathogenic role of cysteine-sparing mutations with typical clinical CADASIL syndrome is still debated. This review aimed to characterize cysteine-sparing mutations in patients with clinical suspicion of CADASIL.

Correlation between Circle of Willis configuration and intracranial arterial dolichoectasia, and genetic contributions.

Objectives: Intracranial arterial dolichoectasia (IADE) is characterized by the dilation, elongation, and tortuosity of intracranial arteries. We aimed to investigate the association between variations of the Circle of Willis (COW) and IADE in the general population, as well as estimate the genetic correlation between COW variations and IADE.

Methods: A total of 981 individuals from a population-based cohort were included.

Mechanism of fibroblast growth factor 1 regulating fatty liver disorder in mule ducks.

Mule ducks tend to accumulate abundant fat in their livers via feeding, which leads to the formation of a fatty liver that is several times larger than a normal liver. However, the mechanism underlying fatty liver formation has not yet been elucidated. Fibroblast growth factor 1 (FGF1), a member of the FGF superfamily, is involved in cellular lipid metabolism and mitosis.

Association of Rare Variants With Prevalent and Incident Stroke and Dementia in the General Population.

Background: It is uncertain whether rare variants are associated with stroke and dementia in the general population and whether they lead to alterations in cognitive function. This study aims to determine the associations of rare variants with prevalent and incident stroke and dementia, as well as cognitive function changes.

Methods And Results: In the prospective community-based Shunyi Study, a total of 1007 participants were included in the baseline analysis.

Neuroprognostication value of serum neurofilament light chain for out-of-hospital cardiac arrest: A systematic review and meta-analysis.

Background: Neurofilament light chain (NfL) is a novel biomarker for the assessment of neurological function after cardiac arrest (CA). Although meta-analysis has confirmed its predictive value, it has not conducted a more detailed analysis of its research. We conducted a meta-analysis to evaluate the relationship between serum NfL level and neurological prognosis in patients with spontaneous circulation recovery after CA, and subgroup analysis was conducted according to sample collection time, time to assess neurological function, study design, whether TTM was received, the method of specimen determination, and the presence of neurological disease in patients.

Risk factors and prognosis of early neurological deterioration in patients with posterior circulation cerebral infarction.

Background: The incidence, risk factors, and pathogenesis of early neurological deterioration (END) in posterior circulation stroke are still unclear. In this study, we aimed to determine the risk factors and prognosis of END in patients with acute posterior circulation cerebral infarction.

Methods: Acute posterior circulation ischemic stroke patients who had completed neuroimaging within 72 h of onset were selected from a prospective registry study Demographic characteristics, physiological data, medical history, laboratory data, in-hospital evaluation, neurological severity and TOAST classification, treatment, and the modified Rankin Scale (mRS) score of patients were assessed.

Aquaporin-4 Antibody Dynamics and Relapse Risk in Seropositive Neuromyelitis Optica Spectrum Disorder Treated with Immunosuppressants.

Objective: To investigate aquaporin-4 antibody (AQP4-IgG) dynamics and relapse risk in patients with seropositive neuromyelitis optica spectrum disorder treated with immunosuppressants.

Methods: This observational cohort study with prospectively collected data included 400 neuromyelitis optica spectrum disorder patients seropositive for AQP4-IgG and treated with immunosuppressants. Serum AQP4-IgG was detected by fixed cell-based assay every 6 months.

Anatomical variations in the Circle of Willis and the formation and rupture of intracranial aneurysms: A systematic review and meta-analysis.

Background: The anterior (AcomA) and posterior communicating arteries (PcomA) are two of the most frequent sites for intracranial aneurysms. Anatomical variations in the Circle of Willis (COW) are frequently observed in patients with AcomA and PcomA aneurysms. Strong evidence is needed to determine the pooled estimate of the effect of COW variations on the formation and rupture of these aneurysms.

Predictive Value of Leucine-Rich Alpha-2 Glycoprotein 1 in Cerebrospinal Fluid for the Prognosis of Aneurysmal Subarachnoid Hemorrhage: A Prospective Study.

Objective: To determine whether leucine-rich alpha-2 glycoprotein 1 (LRG1) is a potential prognostic and severity biomarker in patients with aneurysmal subarachnoid hemorrhage (aSAH).

Methods: This observational and prospective study included 44 patients with aSAH from Nanjing Drum Tower Hospital from June to December 2020. Concentrations of LRG1 in the cerebrospinal fluid (CSF) were determined by enzyme-linked immunosorbent assay within 24 hours after aSAH.

Development and external validation of models to predict acute respiratory distress syndrome related to severe acute pancreatitis.

Background: Acute respiratory distress syndrome (ARDS) is a major cause of death in patients with severe acute pancreatitis (SAP). Although a series of prediction models have been developed for early identification of such patients, the majority are complicated or lack validation. A simpler and more credible model is required for clinical practice.

Investigating the Genetic Characteristics of Hippocampal Volume and Plasma β-Amyloid in a Chinese Community-Dwelling Population.

Background And Objectives: The genetic characteristics and correlations of hippocampal volume (HV) and plasma β-amyloid (Aβ), probable endophenotypes for dementia, remain to be explored in a Chinese community cohort. Using whole-exome sequencing (WES) and single nucleotide polymorphism (SNP) array genotyping, we sought to identify rare and common variants and genes influencing these 2 endophenotypes and calculate their heritability and genetic correlation.

Methods: Association analyses with both WES and SNP array genotyping data were performed for HV and plasma Aβ with mixed-effect linear regression model adjusted for sex, age, and total intracranial volume or ε4 while considering familial relatedness.

Prognostic value of left atrial mechanics in cardiac light-chain amyloidosis with preserved ejection fraction: a cohort study.

Background: Light-chain amyloidosis is a plasma cell disorder associated with poor outcomes, especially when the heart is involved. The characteristics of left atrial (LA) function and its prognostic implications in cardiac amyloidosis (CA) have not been fully investigated.

Methods: Between April 2014 and June 2019, 93 patients with a diagnosis of CA, normal left ventricular ejection fraction (LVEF) and sinus rhythm were included.

Inflammatory biomarkers and cerebral small vessel disease: a community-based cohort study.

Background And Purpose: Although inflammation has been proposed to be a candidate risk factor for cerebral small vessel disease (CSVD), previous findings remain largely inconclusive and vary according to disease status and study designs. The present study aimed to investigate possible associations between inflammatory biomarkers and MRI markers of CSVD.

Methods: A group of 15 serum inflammatory biomarkers representing a variety of those putatively involved in the inflammatory cascade was grouped and assessed in a cross-sectional study involving 960 stroke-free subjects.

Different Types of Circulatory Inflammatory Biomarkers Associated with Cerebral Arterial Atherosclerosis and Dolichoectasia.

Background: Although inflammation is found to be related to arteriopathy pathogenesis, it is yet to be determined the distinct correlations of specific inflammatory biomarker types contributing to different cerebral large vessel diseases. We aimed to investigate the association between multiple inflammatory biomarkers and cerebral atherosclerosis and dolichoectasia in a community-based sample.

Methods: A total of 960 participants of the Shunyi study were included.