Publications by authors named "Huixia Lin"

Article Synopsis
  • Neuroimaging techniques are commonly used to investigate epilepsy, but the structural and functional changes in patients with MRI-negative drug-resistant epilepsy (DRE) are not fully understood.
  • The study utilized structural and functional MRI to examine gray matter volume (GMV) and regional homogeneity (ReHo) in DRE, drug-sensitive epilepsy (DSE), and healthy controls.
  • The findings reveal that changes in the cerebellum of DRE patients may be linked to abnormal gene expression related to drug resistance, highlighting the role of the transcription factor SP1 in this mechanism.
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Mangoes have a short shelf life because of their high-water content. This study aimed to compare the effect of three drying methods (HAD, FIRD and VFD) on mango slices to improve product quality and reduce costs. Mangoes were dried at various temperatures (50, 60, 70 °C) with different slice thicknesses (3, 5, 7, 10 mm).

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Deposition of insoluble SOD1 aggregates in motor neurons is the hallmark of SOD1-associated ALS. Mutant SOD1 protein promotes structural instability that leads to misfolded SOD1 protein aggregates, which can be recapitulated in vitro. Therefore, aggregation propensity in cell lines can be a reliable indicator for the pathogenicity classification of SOD1 variants.

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  • A diagnostic panel utilizing plasma biomarkers shows promise for accurately diagnosing early Parkinson's disease (PD).
  • This study involved 45 individuals with newly diagnosed PD and 20 healthy controls, measuring specific biomarkers like α-synuclein and phosphorylated tau using advanced technology.
  • Results indicated that higher levels of α-synuclein and phosphorylated tau were significantly associated with worse motor symptoms and cognitive impairment in PD patients, suggesting their potential as effective diagnostic indicators.
  • The combined approach using these biomarkers, along with demographic factors, demonstrated good ability to differentiate PD patients from healthy individuals.
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Reducing body myopathy (RBM) is a rare myopathy characterized by reducing bodies (RBs) in morphological presentation. The clinical manifestations of RBM present a wide clinical spectrum, varying from infantile lethal form through childhood and adult benign forms. FHL1 gene is the causative gene of RBM.

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Levodopa (L-DOPA) is the most effective drug for Parkinson's disease (PD). However, the response to L-DOPA remains individually variable, which hampers the practical value of L-DOPA in the clinic. Genetic factors play a role in L-DOPA efficacy.

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Spinocerebellar ataxia type 3 (SCA3) is an inherited form of ataxia that leads to progressive neurodegeneration. Fatigue is a common non-motor symptom in SCA3 and other neurodegenerative diseases, such as Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS). Although risk factors to fatigue in these diseases have been thoroughly studied, whether or not fatigue can affect clinical phenotypes has yet to be investigated.

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Background: Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population.

Results: Three novel likely pathogenic mutations (c.

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Article Synopsis
  • ALS is a serious neurodegenerative disease that affects motor neurons, and this study focused on understanding its genetic components in Chinese patients.
  • Researchers analyzed 24 familial and 21 early-onset sporadic ALS cases using next-generation sequencing and found 17 known mutations along with 7 novel variants.
  • The findings showed that different genes are more prevalent in Chinese ALS patients compared to Caucasian ones, highlighting the diversity in genetic causes of the disease across populations.
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Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by selective involvement of motor neurons in the central nervous system (CNS). The most common causative gene of ALS in the Chinese population is the Cu/Zn ( gene, which accounts for 20-42.9% of familial ALS (FALS) and 1-2% of sporadic ALS (SALS) cases.

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Background: Contrast-enhanced spectral mammography (CESM) is a new image examination technology that has developed over the past few years. As CESM technology keeps improving, a current meta-analysis review is needed to systematically evaluate the potential diagnostic value of CESM.

Methods: A total of 18 studies were included in the review.

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Background: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCAs worldwide. SCA3 homozygote is defined as expanded CAG repeats in both alleles that might exhibit severe phenotype due to gene dosage effect. However, a study on the systematic comparison of clinical phenotypes between homozygotes and heterozygotes to indicate these verity of phenotypes of homozygotes is still lacking.

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Background: Spinocerebellar ataxia type 3 (SCA3), which is the most common subtype of SCA worldwide, exhibits common neuropsychological symptoms such as depression. However, the contribution of depression to the severity of SCA3 has not yet been thoroughly investigated.

Methods: The present study investigated the prevalence of depression using Beck depression inventory in 104 molecularly confirmed SCA3 patients from China.

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Article Synopsis
  • Spinocerebellar ataxia type 3 (SCA3) is primarily caused by mutations in the ATXN3 gene and is the most common subtype of SCA globally.
  • A study involving 134 SCA3 patients and 136 healthy controls from China revealed that SCA3 patients had a significantly lower body mass index (BMI) compared to controls.
  • The findings suggest that BMI is not only influenced by factors like age at onset and severity of ataxia but also serves as a predictor for disease progression; thus, nutritional interventions to increase BMI could help slow down SCA3 progression.
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Polysaccharide from the seeds of Plantago asiatica L. has many bioactivities, but few papers report on the structural and rheological characteristics of the alkaline extract. The alkaline extracted polysaccharide was prepared from seeds of P.

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