A rare case report of Huntington's disease with severe psychiatric symptoms as initial manifestations.

INTRODUCTION: Huntington's disease (HD) stands as an inherited and progressive neurodegenerative ailment distinguished by chorea-esque movement patterns, which manifest as archetypal symptoms. The presence of pronounced psychiatric onset symptoms in patients can considerably amplify the intricacies of accurate diagnosis. CASE PRESENTATION: A 43-year-old gentleman was admitted with a five-year chronicle of delusions, hallucinations, and irritability. He had previously received a diagnosis of schizophrenia and had been subjected to a regimen of antipsychotic medications for a span exceeding four years. However, subsequent to the application of cerebral MRI and genetic testing, his condition was conclusively redetermined as HD. CONCLUSION: The salient attribute of this case resides in the deferred diagnosis of HD attributable to the presence of acute psychiatric initial symptoms, a scenario bearing noteworthy ramifications for disease oversight and prognostication. This instance warrants attentive scrutiny and discourse within the professional community.

A rare case report of primary Sjögren's syndrome with clinical characteristics similar to those of CLIPPERS.

BACKGROUND: Primary Sjögren's syndrome (pSS) is an autoimmune inflammatory disease characterized by dryness of the eyes, mouth and other mucous membranes. Patients with pSS can also present with extraglandular manifestations, such as pulmonary, kidney and nervous system involvement. Central nervous system (CNS) manifestations have rarely been described in pSS. CASE PRESENTATION: A 33-year-old man was admitted with a one-month history of dizziness, speech disturbance, and walking instability. His brain enhanced magnetic resonance imaging (MRI) showed symmetrical, enhanced "salt-and-pepper-like" speckled lesions in the brainstem, basal ganglia, and subcortical regions, and his diagnosis was considered possible chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS). Further examination revealed that anti-SSA antibody was positive, and the Schirmer test and labial salivary gland histopathology were abnormal, which supported the diagnosis of pSS. CONCLUSION: pSS is a chronic systemic autoimmune disease that involves neurological complications. This case suggests that CNS lesions of pSS can present with clinical and MRI findings similar to those of CLIPPERS.

A Rare Case Report of Endovascular Therapy for Basilar Artery Occlusion in a Young Adult with Marfan Syndrome.

Basilar artery occlusion (BAO) is one of the most devastating types of ischaemic stroke and is identified by using computed tomography (CT) angiography. Marfan syndrome is an autosomal dominant disorder involving multisystem connective tissue, and the neurological complications are relatively rare. In this article, we report a case of a young Marfan syndrome patient complicated with BAO ischaemic stroke. The patient was an 18-year-old man with right hemiparesis, aphasia and impaired consciousness. CT angiography of the brain showed an occlusion distal to the basilar artery. Endovascular therapy including intravenous thrombolysis and mechanical thrombectomy (MT) was administered to this patient inside the therapeutic window. The patient had a favourable clinical outcome after endovascular therapy. Marfan syndrome may be a rare cause of ischaemic stroke with BAO. In addition, our report provides some evidence that can be used as a reference when planning therapeutic strategies for BAO patients with Marfan syndrome.

Influence of the COVID-19 Pandemic on Quality of Life of Patients with Parkinson's Disease.

INTRODUCTION: This study investigated the influence of lockdown during the 2019 coronavirus disease (COVID-19) pandemic on the quality of life of patients with Parkinson's disease (PD). METHODS: We conducted a questionnaire survey involving 113 patients with PD from Xihu District, Hangzhou, Zhejiang. During the epidemic prevention and control period (February 1 to March 31, 2020), patients enrolled were asked to fill out questionnaires, including the "COVID-19 Questionnaire for PD Patients during the Period of Epidemic Prevention and Control" and "39-item Parkinson's Disease Questionnaire (PDQ-39)." During the phase of gradual release of epidemic prevention and control (April 1 to April 30, 2020), all patients were followed up again, and PDQ-39 questionnaires were completed. RESULTS: The quality of life for patients during the period of epidemic prevention and control was worse than that after epidemic prevention and control (P < 0.001). The biggest problem that they faced was that they could not receive their doctor's advice or guidance regularly. The quality of life of patients who had difficulty getting doctors' guidance or those who changed their routine medication due to lockdown was even worse. Telemedicine was quite effective and efficient for patients to get doctors' guidance during lockdown. CONCLUSIONS: The inconvenient treatment during the pandemic directly caused the aggravation of patients' symptoms and the decline in their quality of life. It is suggested that social media (such as WeChat or Tencent QQ) are used for regular interactions and follow-up appointments for patients with inconvenient medical treatment.

Tissue inhibitor of the metalloproteinases-3 gene polymorphisms and carotid plaque susceptibility in the Han Chinese population.

Tissue inhibitor of metalloproteinases (TIMPs) are endogenous inhibitors of matrix metalloproteinases that are involved in normal cellular processes and in the development and progression of atherosclerosis. Our purpose was to evaluate the polymorphisms of the TIMP-3 genes for their associations with carotid plaques or with serum protein levels in the Han Chinese population. Two promoter variants, -915A/G (rs2234921) and -1296T/C (rs9619311), were genotyped in 548 subjects with no plaques, 462 subjects with echogenic plaques, and 427 subjects with mixture plaques. The serum TIMP-3 levels were measured using an enzyme-linked immunosorbent assay (ELISA). There was a strong linkage disequilibrium between -1296T/C and -915A/G (D' = 1.0, r2 = 0.991). The individuals with the genotype (TC+CC) were 1.8 times more likely to have mixture plaques than the individuals with the TT genotype (P = 0.001, OR: 1.836, 95%CI: 1.269-2.665). The frequency of the C allele in the mixture plaque group was significantly higher than in the no plaque group (P = 0.009, CI: 1.119-2.187). We observed a significant elevation of the TIMP-3 levels in the serum of patients affected with mixture plaques compared to those with no plaques (P = 0.013). The current data suggest that genetic variation in the TIMP-3 genes may contribute to individual differences in mixture plaque susceptibility in the Han Chinese population.

Anti-atherosclerotic potential of baicalin mediated by promoting cholesterol efflux from macrophages via the PPARγ-LXRα-ABCA1/ABCG1 pathway.

BACKGROUND: Atherosclerosis (AS) is associated with severe cardiovascular disease. The anti-inflammatory, anti-oxidation, and lipid regulating properties of baicalin suggest potential as an anti-atherosclerotic agent. We therefore investigated whether baicalin can protect against the development of atherosclerosis in an AS rabbit model and explored the underling mechanisms in THP-1 macrophages. METHODS AND RESULTS: In vivo, treatment with baicalin markedly decreased atherosclerotic lesion sizes and lipid accumulation in AS rabbit carotid arteries. Western blotting revealed that the protein expression levels of both peroxisome proliferator-activated receptor gamma (PPARγ) and liver X receptor alpha (LXRα) were up-regulated in the baicalin group compared with the model group. In vitro, baicalin restricted oxidized-low density lipoprotein (ox-LDL)-induced intracellular lipid accumulation and foam cell formation in THP-1 macrophages. Molecular data showed that baicalin significantly increased the expression levels of PPARγ, LXRα, ATP binding cassette transporters (ABC) A1 and ABCG1. Cell transfection experiments (including PPARγ and LXRα siRNAs) suggested that the effects of baicalin are mediated by the PPARγ-LXRα signalling pathway, which stimulates the expression of ABCA1 and ABCG1. CONCLUSION: These results suggest that baicalin potentially exerts anti-atherosclerosis effects, possibly through the PPARγ-LXRα-ABCA1/ABCG1 pathway, by promoting efflux of cholesterol from macrophages and delaying the formation of foam cells.

Celastrol may have an anti-atherosclerosis effect in a rabbit experimental carotid atherosclerosis model.

BACKGROUND: Celastrol may have an anti-atherosclerosis effect. This study aimed to investigate if celastrol had an anti-AS effect using a rabbit experimental carotid atherosclerosis model. METHODS: Forty male Japanese white rabbits were divided into the sham group (normal diet), the model group (high fat diet), the group treated with celastrol (high fat diet) and the group treated with atorvastatin (high fat diet) randomly. The rabbits fed a high fat diet underwent balloon injury of the right common carotid artery and were treated with dimethyl sulfoxide (DMSO) (the model group, 3.5 ml/kg/d), celastrol and its dissolvent DMSO (the celastrol group, 1 mg/kg/d and 3.5 ml/kg/d) and atorvastatin and its dissolvent DMSO (the atorvastatin group, 2.5 mg/kg/d and 3.5 ml/kg/d) for 12 weeks by gavage. RESULTS: The ratio of the plaque area and the arterial wall cross-section area in the celastrol group was significantly less than the model group (P < 0.001), and there was no significant difference compared with the atorvastatin group. The serum level of LDL-C of the celastrol group was significantly lower than the model group (P = 0.014), and there was no significant difference compared with the atorvastatin group. The expression of VEGF in the celastrol group was significantly less compared with the model group (P = 0.014), whereas the expression of VEGF in the atorvastatin group and the model group showed no significant differences. CONCLUSION: Our findings suggest that celastrol effectively reduced the plaque ratio, decreased the serum levels of LDL and downregulated the expression of VEGF, suggesting an anti-AS effect of celastrol.