Zhaoxia Wang
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View article: Clinical Reasoning: A 16-Year-Old Adolescent Boy With Ophthalmoplegia and Unilateral Ptosis
Clinical Reasoning: A 16-Year-Old Adolescent Boy With Ophthalmoplegia and Unilateral Ptosis Open
Ophthalmoplegia with ptosis represents a heterogeneous group of disorders that pose significant diagnostic challenges. We report the case of a 16-year-old adolescent boy presenting with ophthalmoplegia and unilateral ptosis. This case unde…
View article: The link between gut microbiota and multiple sclerosis from the perspective of barrier function
The link between gut microbiota and multiple sclerosis from the perspective of barrier function Open
Recently, more and more studies have begun to focus on the role of gut microbiota in neurological diseases, especially immune-mediated disorders including multiple sclerosis (MS). The bidirectional communication between the gut microbiome …
View article: Expression of inflammatory cytokines in CADASIL and their associations with clinical and neuroimaging features
Expression of inflammatory cytokines in CADASIL and their associations with clinical and neuroimaging features Open
Objectives The aim of our study is to explore the expression levels of inflammatory cytokines in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and to assess the correlat…
View article: Diagnostic performance of “pons chocolate chip sign” in heterozygous HTRA1-related cerebral small vessel disease
Diagnostic performance of “pons chocolate chip sign” in heterozygous HTRA1-related cerebral small vessel disease Open
The "pons chocolate chip sign" demonstrates high specificity for hHTRA1-CSVD and good discriminatory performance in differentiating hHTRA1-CSVD from CADASIL and sporadic CSVD.
View article: Follow-up observation of eye movements in multiple system atrophy and Parkinson’s disease: a cohort study
Follow-up observation of eye movements in multiple system atrophy and Parkinson’s disease: a cohort study Open
Objectives We aimed to explore the changes in oculomotor deficiencies during the follow-up of patients with multiple system atrophy (MSA) and Parkinson’s disease (PD), and to investigate the value of dynamic eye movement examination in the…
View article: Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis
Clinical and genetic analysis of a family with cerebrotendinous xanthomatosis Open
Objective This study aims to analyze the clinical and genetic characteristics of cerebrotendinous xanthomatosis (CTX) in a Chinese family. Methods Clinical data, including medical history, neurologic and auxiliary examinations, imaging stu…
View article: Prolonged Hospital Length of Stay Does Not Improve Functional Outcome in Acute Ischemic Stroke
Prolonged Hospital Length of Stay Does Not Improve Functional Outcome in Acute Ischemic Stroke Open
View article: The prevalence of neuropsychiatric symptoms and correlation with <scp>MRI</scp> findings in <scp>CADASIL</scp> patients
The prevalence of neuropsychiatric symptoms and correlation with <span>MRI</span> findings in <span>CADASIL</span> patients Open
Objective To assess the prevalence, timing, and functional impact of neuropsychiatric symptoms in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to assess whether thes…
View article: Elevated serum circulating cell‐free mitochondrial <scp>DNA</scp> in amyotrophic lateral sclerosis
Elevated serum circulating cell‐free mitochondrial <span>DNA</span> in amyotrophic lateral sclerosis Open
Background and Purpose The substantial role of inflammation in amyotrophic lateral sclerosis (ALS) is gaining support from recent research. Studies indicate that circulating cell‐free mitochondrial DNA (ccf‐mtDNA) can activate the immune s…
View article: Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy
Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy Open
Objectives The aim of this study is to explore the expression of inflammatory cytokines (ICs) in Fabry disease (FD), the correlation between ICs and FD phenotypes, and the impact of enzyme replacement therapy (ERT) on IC expression. Method…
View article: The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study Open
Mitochondrial diseases (MtDs) present diverse clinical phenotypes, yet large‐scale studies are hindered by their rarity. This retrospective, multicenter study, conducted across five Chinese hospitals' neurology departments from 2009 to 201…
View article: Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study
Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study Open
Background This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases. Methods This retrospective cross-sectional study enrolled patients diagnosed…
View article: A frequency selection network for medical image segmentation
A frequency selection network for medical image segmentation Open
View article: The different association between fat mass distribution and intake of three major nutrients in pre- and postmenopausal women
The different association between fat mass distribution and intake of three major nutrients in pre- and postmenopausal women Open
Background Obesity, characterized by excessive body fat accumulation, is associated with various chronic health conditions. Body fat plays a crucial role in health outcomes, and nutrient intake is a contributing factor. Menopause further i…
View article: Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies Open
View article: MELAS with mtDNA 3243A&gt;G mutation presenting as bilateral symmetric occipital and temporal cortices lesions: a case report and literature review
MELAS with mtDNA 3243A>G mutation presenting as bilateral symmetric occipital and temporal cortices lesions: a case report and literature review Open
Background and Purpose: Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the most common maternally inherited mitochondrial diseases. Stroke-like episode affecting the cortical cortex is t…
View article: Abnormal Ocular Movement in the Early Stage of Multiple-System Atrophy With Predominant Parkinsonism Distinct From Parkinson’s Disease
Abnormal Ocular Movement in the Early Stage of Multiple-System Atrophy With Predominant Parkinsonism Distinct From Parkinson’s Disease Open
MSA-P presented the characteristic of catch-up saccades in SPM in the early stage, which may provide some value in differentiating MSA-P from PD.
View article: A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data
A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data Open
Background We aimed to analyse genome‐wide transcriptome differences between Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients and identify biomarkers that correlate well with muscle magnetic resonance imaging …
View article: Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress
Pathologic changes in neuronal intranuclear inclusion disease are linked to aberrant FUS interaction under hyperosmotic stress Open
CGG repeat expansion in NOTCH2NLC is the genetic cause of neuronal intranuclear inclusion disease (NIID). Previous studies indicated that the CGG repeats can be translated into polyglycine protein (N2CpolyG) which was toxic to neurons by f…
View article: Phenotypic and genotypic characteristics of adult-onset glutaric aciduria type 1: report of two cases and a literature review
Phenotypic and genotypic characteristics of adult-onset glutaric aciduria type 1: report of two cases and a literature review Open
Glutaric aciduria type 1 (GA-1) is an autosomal recessive inherited disorder caused by GCDH variations. GA-1 is a rare disease that typically manifests in infancy and early childhood, with adult-onset cases being even rarer. Currently, dat…
View article: The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial <scp>DNA</scp> single large deletions
The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial <span>DNA</span> single large deletions Open
Background Progressive external ophthalmoplegia (PEO) is a common subtype of mitochondrial encephalomyopathy. Objective The study aimed to investigate the relationship between mitochondrial DNA (mtDNA) abnormalities, muscle pathology, and …
View article: Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophy
Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophy Open
Background An accurate genetic diagnosis of Becker muscular dystrophy (BMD) can be sometimes challenging due to deep intronic DMD variants. Here, we report on the genetic diagnosis of a BMD patient with a novel deep‐intronic splice‐alterin…
View article: The relationship between hematoma morphology and intraventricular hemorrhage in supratentorial deep intracerebral hemorrhage
The relationship between hematoma morphology and intraventricular hemorrhage in supratentorial deep intracerebral hemorrhage Open
Two quantitative parameters of hematoma morphology, sphericity index and the LMA, were significantly associated with the presence of IVH in patients with supratentorial deep ICH. Further prospective studies with larger sample sizes are nee…
View article: Clinicopathological and circulating cell‐free <scp>DNA</scp> profile in myositis associated with anti‐mitochondrial antibody
Clinicopathological and circulating cell‐free <span>DNA</span> profile in myositis associated with anti‐mitochondrial antibody Open
Objective Anti‐mitochondrial antibodies (AMAs) are associated with idiopathic inflammatory myopathies (IIMs). We aimed to summarize the clinicopathological characteristics, assess circulating cell‐free mitochondrial DNA (ccf‐mtDNA), and ci…
View article: Aerobic exercise combined with memory strategy training improve the cognitive function
Aerobic exercise combined with memory strategy training improve the cognitive function Open
Background Type 2 diabetes mellitus (T2DM) is closely associated with the occurrence of cognitive impairment, imposing a heavy burden on the patient's family and society. Aerobic exercise and targeted memory strategies have been widely rep…
View article: Novel mutations in <scp><i>FLVCR1</i></scp> cause tremors, sensory neuropathy with retinitis pigmentosa
Novel mutations in <span><i>FLVCR1</i></span> cause tremors, sensory neuropathy with retinitis pigmentosa Open
The mutations of the feline leukemia virus subgroup C receptor‐related protein 1 ( FLVCR1 ) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1 ‐associated diseases. In this report,…
View article: Brain MRI correlations with disease burden and biomarkers in Fabry disease
Brain MRI correlations with disease burden and biomarkers in Fabry disease Open
Objective To quantitatively evaluate cerebral small vessel disease (CSVD) in brain magnetic resonance imaging (MRI) and its correlation with disease burden and markers in Fabry disease, a rare X-linked lysosomal storage disease. Methods We…
View article: Evaluation of the median nerve by shear wave elastography in patients with Charcot–Marie–Tooth disease type 1A
Evaluation of the median nerve by shear wave elastography in patients with Charcot–Marie–Tooth disease type 1A Open
Aims: Charcot–Marie–Tooth disease type 1A (CMT1A) is characterized by enlargement and stiffness of peripheral nerves due to edema with large numbers of “onion bulbs” in the endoneurium. Ultrasound elastography seems to be an ideal method t…
View article: Aquaporin 4 Mediates the Effect of Iron Overload on Hydrocephalus After Intraventricular Hemorrhage
Aquaporin 4 Mediates the Effect of Iron Overload on Hydrocephalus After Intraventricular Hemorrhage Open
Background Iron overload plays an important role in hydrocephalus development following intraventricular hemorrhage (IVH). Aquaporin 4 (AQP4) participates in the balance of cerebrospinal fluid secretion and absorption. The current study in…
View article: Diazo-carboxyl click chemistry enables rapid and sensitive quantification of carboxylic acid metabolites
Diazo-carboxyl click chemistry enables rapid and sensitive quantification of carboxylic acid metabolites Open
Carboxylic acids are central metabolites in bioenergetics, signal transduction and post-translation protein regulation. Unlike its genomic and transcriptomic counterparts, the quest for metabolomic profiling in trace amounts of biomedical …