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Hypereosinophilia with cerebral venous sinus thrombosis and intracerebral hemorrhage:A case report and review of the literature

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World Journal of Clinical Cases 2021年第28期9卷 8571-8578页

作者： Xiu-hua Song Tian Xu guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina

BACKGROUND Hypereosinophilia(HE)is defined as a peripheral blood eosinophil count of>1.5×109/L and may be associated with tissue *** clinical presentations of HE vary;however,myocardial fibrosis and thrombosis can threaten the lives of patients with sustained *** venous sinus thrombosis(CVST)in the setting of eosinophil-related diseases has seldom been ***,we review the literature on HE with CVST to increase knowledge and encourage early *** SUMMARY A previously healthy 41-year-old man was admitted to hospital with diarrhea and abdominal *** was treated with antibiotics for suspected acute *** days later,he experienced headache and *** computed tomography(CT)revealed thrombosis of the left jugular vein to the left transverse sinus ***(PLT)count decreased to 60×1012/L,and absolute eosinophil count(AEC)increased to 2.41×109/*** was treated with low-molecular-weight *** count progressively decreased to 14×109/L,and we terminated anticoagulation and performed PLT *** days after admission,he complained of a worsening *** CT revealed right temporal lobe and left centrum semiovale intracerebral hemorrhage,and AEC increased to 7.65×109/*** used prednisolone for *** level of consciousness decreased,so emergency hematoma removal and decompressive craniectomy for right cerebral hemorrhage were *** patient was alert 2 d after *** was treated with anticoagulation again 2 wk after *** were gradually tapered without any symptomatic recurrence or abnormal laboratory *** HE can induce CVST,and we need to focus on eosinophil counts in patients with CVST.

关键词： Cerebral venous sinus thrombosis Intracerebral hemorrhage Hypereosinophilia Hypereosinophilic syndrome Thrombocytopenia Colitis Case report

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Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations:A literature reanalysis

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Translational Neurodegeneration 2017年第1期6卷 92-97页

作者： guo-hua zhao Xiao-min Liu Department of Neurology Second Affiliated HospitalSchool of MedicineZhejiang UniversityHangzhou 310009China Department of Neurology Fourth Affiliated HospitalSchool of MedicineZhejiang UniversityYiwu 322000China Department of Neurology Qianfoshan HospitalShandong UniversityJinan 16766China

Background:The hereditary spastic paraplegias(HSPs)are a group of clinically and genetically heterogeneous *** 10% of the autosomal dominant(AD)HSPs(ADHSPs)have the spastic paraplegia 3A(SPG3A)genotype which is caused by ATL1 gene *** there are more than 60 reported ATL1 gene mutations and the genotype-phenotype correlation remains *** study aims to investigate the genotypephenotype correlation in SPG3A ***:We performed a reanalysis of the clinical features and genotype-phenotype correlations in 51 reported studies exhibiting an ATL1 gene ***:Most HSPs-SPG3A patients exhibited an early age at onset(AAO)of0.05).The mutational spectrum associated with ATL1 gene mutation is wide,and most mutations are missense mutations,but do not involve the functional motif of ATL1 gene encoded atlastin-1 ***:Our findings indicate that there is no clear genotype-phenotype correlation in HSPs-SPG3A *** also find that exons 4,7,8 and 12 are mutation hotspots in ATL1 gene.

关键词： Hereditary spastic paraplegia SPG3A Age at onset ATL1 Mutation Genotype-phenotype correlation

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High quality Sb-doped SnO2 electrodes with high oxygen evolution potential prepared by in situ hydrothermal synthesis method

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Chinese Chemical Letters 2007年第8期18卷 997-1000页

作者： Ai Sheng huang guo hua zhao Hong Xu Li Department of Chemistry Tongji University Shanghai 200092 China

High quality Sb-doped SnO2 electrode, with high oxygen evolution potential of 3.0 V, was successfully synthesized on the Ti substrates by in situ hydrothermal synthesis method.

关键词： Metallic oxide electrode Hydrothermal synthesis Oxygen evolution reaction

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Hemichorea due to ipsilateral thalamic infarction: A case report

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World Journal of Clinical Cases 2021年第19期9卷 5287-5293页

作者： zhao-Sheng Li Jia-Jia Fang Xiao-Hui Xiang guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina

BACKGROUND Hemichorea usually results from vascular lesions of the basal *** often,the lesion is contralateral to the affected limb but rarely,it may be *** pathophysiology of ipsilateral hemichorea is still poorly *** review the literature on hemichorea due to ipsilateral cerebral infarction and explore possible mechanisms for its *** SUMMARY A 72-year-old woman presented with complaints of involuntary movements of the muscles of the left side of the face and mild weakness of the right *** symptoms had started suddenly 1 d *** admission to the hospital,the involuntary movements spread to involve the left limbs *** resonance imaging revealed a left thalamic *** patient’s hemichorea subsided after treatment with haloperidol(2 mg per time,3 times/d)for 3 d;the hemiparesis resolved with rehabilitation *** is presently symptom free and on treatment for prevention of secondary *** review the literature on the occurrence of ipsilateral hemichorea following thalamic infarction and discuss the possible pathomechanisms of this unusual *** Ipsilateral hemichorea following a thalamic stroke is rare but it can be explained by structure of the extrapyramidal *** thalamus is a relay station that exerts a bilateral control of motor function.

关键词： Ipsilateral Hemichorea Thalamic infarction Hemiparesis Stroke Case report

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Concomitant Othello syndrome and impulse control disorders in a patient with Parkinson’s disease:A case report

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World Journal of Clinical Cases 2022年第3期10卷 1024-1031页

作者： Tian Xu zhao-Sheng Li Wei Fang Lan-Xiao Cao guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322200Zhejiang ProvinceChina

BACKGROUND Othello syndrome(OS)is characterized by delusional beliefs concerning the infidelity of a spouse or sexual partner,which may lead to extreme *** control disorders refer to behaviors involving repetitive,excessive,and compulsive activities driven by an intense *** OS and impulse control disorders in Parkinson’s disease(PD)may be side effects of dopamine *** present,there are only a few case reports and studies related to PD with concomitant OS and impulse control *** SUMMARY We describe a 70-year-old male patient with PD,OS,and impulse control disorders,who presented with a six-month history of the delusional belief that his wife was having an affair with *** began to show an obvious increase in libido presenting as frequent *** had been diagnosed with PD ten years earlier and had no past psychiatric *** his fourth year of PD,he engaged in binge eating,which lasted approximately one *** OS and hypersexuality were alleviated substantially after a reduction of his pramipexole dosage and a prescription of *** Given its potential for severe consequences,OS should be identified early,especially in patients undergoing treatment with dopamine agonists.

关键词： Othello syndrome Delusional jealousy Impulse control disorders Hypersexuality Parkinson’s disease Case report

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Hyperglycemic hemianopia:A case report

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World Journal of Clinical Cases 2021年第7期9卷 1720-1727页

作者： Xiao-Hui Xiang Jia-Jia Fang Mi Yang guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina

BACKGROUND Nonketotic hyperglycemia(NKH)is characterized by hyperglycemia with little or no *** neurological symptoms have been described in NKH patients,including choreoathetosis,hemiballismus,seizures,and coma in severe *** hemianopia,with or without occipital seizures,caused by hyperglycemia is less readily *** SUMMARY We describe a 54-year-old man with NKH,who reported seeing round,colored flickering lights with right homonymous *** magnetic resonance imaging demonstrated abnormalities in the left occipital lobe,with decreased T2 signal of the white matter,restricted diffusion,and corresponding low signal intensity in the apparent diffusion coefficient *** responded to rehydration and a low-dose insulin regimen,with improvements of his visual field *** Patients with NKH may present focal neurologic *** should be taken into consideration when making an etiologic diagnosis of homonymous hemianopia.

关键词： Nonketotic hyperglycemia Homonymous hemianopia Occipital seizures Imaging manifestations Case report

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Mills’syndrome is a unique entity of upper motor neuron disease with N-shaped progression:Three case reports

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World Journal of Clinical Cases 2022年第19期10卷 6664-6671页

作者： Zhi-Yun Zhang Zhi-Yuan Ouyang guo-hua zhao Jia-Jia Fang Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina Department of Neurology The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Mills’syndrome is an extremely rare degenerative motor neuron disorder first described by Mills in 1900,but its nosological status is still not *** aimed to analyze the clinical features of Mills’*** SUMMARY Herein,we present 3 cases with similar features as those described in Mills’original paper and review the related *** patients showed middle-and older-age onset,with only upper motor neuron symptoms evident throughout the course of the *** hemiplegia began in the lower extremity with a unique progressive *** We consider that Mills’syndrome is a unique entity of motor neuron disorder with an N-shaped *** should maintain a high index of suspicion for the diagnosis of Mills’syndrome when the onset involves lower extremity paralysis without evidence of lower motor neuron or sensory involvement.

关键词： Mills’syndrome Motor neuron disease Primary lateral sclerosis Amyotrophic lateral sclerosis N-shaped progression Case report

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Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review

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World Journal of Clinical Cases 2020年第21期8卷 5446-5456页

作者： Lan-Xiao Cao Mi Yang Ying Liu Wen-Ying Long guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina Central Laboratory The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina

BACKGROUND Cerebrotendinous xanthomatosis(CTX)is a treatable autosomal recessive inherited metabolic *** results from a deficiency of sterol 27-hydroxylase(CYP27A1),which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol *** with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain,eyes,tendons,and vessels,resulting in juvenile cataracts,tendon xanthoma,chronic diarrhea,cognitive impairment,ataxia,spastic paraplegia,and peripheral *** is underdiagnosed as knowledge of the disorder is mainly based on case *** SUMMARY A Chinese family with CTX consisting of one patient and four heterozygous carriers was *** patient is a 47-year-old male,who mainly had psychiatric signs but without some cardinal features of CTX such as cataracts,cerebellar ataxia,pyramidal signs and chronic *** was a significant increase in the concentration of free fatty acid compared to normal *** ultrasound of the urinary system showed multiple left kidney stones,a right kidney cyst,and a hypoechoic area in the bladder,which could move with body *** and axial magnetic resonance imaging(MRI)of the right ankle joint showed apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon,abnormal thickening of the plantar fat,and a small amount of exudation around the fascia in front of the Achilles *** MRI suggested white matter(WM)demyelination and slight cerebral *** diagnosis was confirmed by targeted sequencing,which identified compound heterozygous mutations in exon 2 and intron 7 of the CYP27A1 gene(c.435G>T,c.1263+1G>A).Treatment for 3 wk with a combination of lipid-lowering and antipsychotic therapy improved his psychiatric symptoms and normalized the levels of serum free fatty *** in the bladder disapp

关键词： Cerebrotendinous xanthomatosis CYP27A1 Clinical Genetic Cholestanol Case report Metabolic diseases

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Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

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World Journal of Clinical Cases 2021年第3期9卷 623-631页

作者： Lan-Xiao Cao Ying Liu zhao-Jun Song Bao-Rong Zhang Wen-Ying Long guo-hua zhao Department of Neurology The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina Central Laboratory The Fourth Affiliated HospitalZhejiang University School of MedicineYiwu 322000Zhejiang ProvinceChina Department of Neurology The Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310009Zhejiang ProvinceChina

BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of *** most common symptoms are myoclonus,ataxia and *** is rarely encountered in the Chinese *** SUMMARY A 22-year-old male presented with complaints of progressive myoclonus,ataxia and slurred speech,without visual symptoms;the presenting symptoms began at the age of *** exome sequencing revealed two pathogenic heterozygous missense variants[c.239C>T(p.P80L)and c.544A>G(p.S182G)in the neuraminidase 1(NEU1)gene],both of which have been identified previously in Asian patients with type 1 *** three patients identified in China's Mainland come from three unrelated families,but all three show the NEU1 mutations p.S182G and p.P80L pathogenic *** sialidase activity through chaperones is a promising therapeutic target in *** Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis,we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.

关键词： Sialidosis Myoclonus Ataxia Neuraminidase 1 Case report Mucolipidoses

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Nucleophilic substitution of hydrogen in naphthalene by chloride(Cl^-)in ionic liquids

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Chinese Chemical Letters 2011年第2期22卷 147-150页

作者： Shen Yi Shi Ai guo Kong Xin hua zhao Han Ming Ding Fan Yang Yong Kui Shan Department of Chemistry East China Normal UniversityShanghai 200062China

Nucleophilic aromatic substitution of hydrogen in non-activated aromatic ring,a very rare phenomenon in organic chemistry,is found in ionic liquids containing Cl^- as anion under mild reaction *** reaction may be carried out by the addition of the halogen-bonding adduct（Br2Cl^-） as nucleophile to aromatic ring carbon atom,leading to the formation of the nucleophilic substitution product.

关键词： Ionic liquid Aromatic compound Naphthalene Nucleophilic reaction Halogen bonding

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