A Positive Microbubble Study in Ventricular Septal Defect Patient Without Pulmonary Hypertension.

A stroke patient with supracristal ventricular septal defect accompanying suspected patent foramen ovale underwent transthoracic and transesophageal echocardiography with agitated saline microbubble study, a positive trans-ventricular microbubble jet after Valsalva maneuver provocation was detected, indicating instantaneous transient paradoxical right-to-left shunt at late diastole might be the etiology of embolic events. ().

Differential value of intima thickness in ischaemic stroke due to large-artery atherosclerosis and small-vessel occlusion.

No study has examined the differential value of arterial intima thickness in the subtypes of acute ischaemic stroke. This study aimed to assess whether intima thickness of carotid artery (CIT), radial artery (RIT) and dorsalis pedis artery (PIT) have an independent and additive value in differentiating ischaemic stroke subtypes due to large-artery atherosclerosis (LAA) or small-vessel occlusion (SVO). One hundred and sixty-one patients with LAA and 79 patients with SVO were recruited.

Painful Diabetic Peripheral Neuropathy Study of Chinese Outpatients (PDNSCOPE): A Multicentre Cross-Sectional Registry Study of Clinical Characteristics and Treatment in Mainland China.

Introduction: This aim of this study was to delineate current clinical scenarios of painful diabetic peripheral neuropathy (PDN) and associated anxiety and depression among patients in Mainland China, and to report current therapy and clinical practices.

Methods: A total of 1547 participants were enrolled in the study between 14 June 2018 and 11 November 2019. Recruitment was conducted using a multilevel sampling method.

IRE1α-XBP1 Affects the Mitochondrial Function of Aβ25-35-Treated SH-SY5Y Cells by Regulating Mitochondria-Associated Endoplasmic Reticulum Membranes.

Neurotoxicity induced by the amyloid beta (Aβ) peptide is one of the most important pathological mechanisms of Alzheimer's disease (AD). Activation of the adaptive IRE1α-XBP1 pathway contributes to the pathogenesis of AD, making it a potential target for AD therapeutics. However, the mechanism of IRE1α-XBP1 pathway involvement in AD is unclear.

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.

Introduction: Spinocerebellar ataxias (SCAs) are a heterozygous group of neurodegenerative disorders. Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal-dominant ataxia with pure cerebellum involvement. The clinical characteristics are limb and gait ataxia, trunk ataxia, sensory deficits, abnormal eye movement, dysarthria, and hyperactive tendon reflexes.

The Diagnostic Value of Radial and Carotid Intima Thickness Measured by High-Resolution Ultrasound for Ischemic Stroke.

Background: No study has examined intima thickness of the carotid artery and peripheral arteries in subjects with acute ischemic stroke due to large-artery atherosclerosis (LAAS). The aim of this study was to test whether carotid intima thickness (CIT), radial intima thickness (RIT), and dorsalis pedis intima thickness (PIT) are closely associated to atherosclerotic risk factors and whether they possess independent and additive value for differentiating LAAS stroke.

Methods: One hundred and two patients with LAAS stroke and 104 age- and gender-matched control subjects were enrolled.

Detection and significance of exosomal mRNA expression profiles in the cerebrospinal fluid of patients with meningeal carcinomatosis.

Exosomes are cell-derived membrane vesicles with cargo that can be transported into receiver cells to exert their biological roles. Exosomal RNA signature profiles and exosome-derived proteomics are often used to explore the molecular regulation of diseases, and can mirror the conditional state of their tissue of origin, thus serving as biomarkers. The onset of meningeal carcinomatosis (MC) is concealed, and early diagnosis is difficult.

Vascular endothelial growth factor alleviates mitochondrial dysfunction and suppression of mitochondrial biogenesis in models of Alzheimer's disease.

Purpose: Mitochondrial dysfunction is a prominent feature of Alzheimer's disease (AD). As vascular endothelial growth factor (VEGF) has been shown to be protective in AD, the aim of this study was to investigate the effects of VEGF on mitochondrial function in models of AD.

Materials And Methods: Adeno associated virus (AAV)-VEGF was injected into the hippocampus of APP/PS1 mice.

Activation of Mitochondrial Unfolded Protein Response in SHSY5Y Expressing APP Cells and APP/PS1 Mice.

Alzheimer disease (AD) is the most common form of dementia. Amyloid β-peptide (Aβ) deposition is a major neuropathologic feature of AD. When unfolded or misfolded proteins accumulate in mitochondria, the unfolded protein responses (UPRmt) is initiated.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Background: X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations.

Methods: A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations.

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.

This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180 patients who were consecutively suspected of LGMDs and underwent muscle biopsies from January 2013 to May 2015. The association between genotype and myopathological profiles was analyzed in the genetically confirmed LGMD patients.

Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.

Background: Dysferlinopathy is caused by mutations in the dysferlin (DYSF) gene. Here, we described the genetic features of a large cohort of Chinese patients with this disease.

Methods: Eighty-nine index patients were included in the study.

"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.

Background: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.

Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy.

Introduction: The aim of this study was to evaluate the pattern of thigh muscle MRI changes in a large cohort of patients with dysferlinopathy.

Methods: MRI of the thigh was performed in 60 patients. We correlated the scale of muscle involvement on MRI with the modified Gardner-Medwin and Walton (GM-W) scale and disease duration.

The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies.

Background: The purpose of this study was to evaluate the diagnostic value of the trefoil (three leaflets formed by relative sparing of the sartorius, gracilis, and adductor longus) with single fruit sign (relative sparing of the semitendinosus) in the evaluation of thigh muscle magnetic resonance imaging (MRI) for dystrophinopathies.

Methods: Five examiners blinded to any clinical data analyzed muscle MRI scans from 166 patients with dystrophinopathies (124 cases confirmed genetically and 42 cases confirmed by immunohistochemistry) and from 244 control patients, all treated in our hospital from 2011 to 2014. The controls were patients with other neuromuscular disorders and with dystrophinopathies excluded by genetic testing and/or muscle biopsy.

INF2 mutations associated with dominant inherited intermediate Charcot-Marie-Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients.

Recently, mutations in the inverted formin 2 (INF2) gene have been indentified in patients with dominant inherited intermediate Charcot-Marie-Tooth neuropathy (DI-CMT) with focal segmental glomerulosclerosis (FSGS). We report clinical and nerve pathological changes in two Chinese patients. Case 1 is 27 years old and presented with distal muscle weakness and atrophy of legs at the age of 13 and renal failure at the age of 26.

Lamivudine/telbivudine-associated neuromyopathy: neurogenic damage, mitochondrial dysfunction and mitochondrial DNA depletion.

Aims: Myopathy or neuropathy has been associated with lamivudine/telbivudine therapy in hepatitis B patients. We aim to describe the pathological changes of lamivudine/telbivudine-associated neuromyopathy.

Methods: We retrospectively recruited six patients who were diagnosed with nucleotide analogues-associated myopathy or neuropathy.

Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression.

It has been implicated that Dux4 plays crucial roles in development of facioscapulohumeral dystrophy. But the underlying myopathic mechanisms and related down-stream events of this retrogene were far from clear. Here, we reported that overexpression of Dux4 in a cell model TE671 reduced cell proliferation rate, and increased G1 phase accumulation.