Objective To explore the clinical features,diagnostic methods,and treatment strategies for severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)encephalitis confirmed through cerebrospinal fluid(CSF)analysis.Methods The clinical data of patients diagnosed with SARS-CoV-2 encephalitis through CSF analysis in the Neurology Intensive Care Unit of the First Affiliated Hospital of Nanchang University from March 2022 to March 2023 were collected.Additionally,the relevant literature published in both domestic and international databases was analyzed and synthesized.Results The main neurological manifestations of five cases included decreased consciousness(5/5),psychiatric disorder(2/5),seizures(2/5),quadriplegia(1/5),and headaches(1/5).Two cases had abnormal brain magnetic resonance imaging(MRI)changes,involving the temporal lobe,insular lobe,thalamus,hippocampus,and pons.Additionally,CSF analysis showed mildly elevated protein levels in two cases.Next-generation sequencing(NGS)of the CSF identified SARS-CoV-2 in all five cases(sequence:41-1620),and human herpesvirus 1 in one case(sequence:21).The treatment regimen for all cases included antiviral therapy,three were additionally treated with glucocorticoids and one received immunoglobulin therapy.All cases achieved a favorable outcome(mRS:0-2).Conclusion SARS-CoV-2 has the potential to induce encephalitis/meningitis due to its neurotropic nature.The consideration of this condition is warranted in patients with relevant epidemiological history and symptoms related to the central nervous system.CSF NGS serves as a valuable tool for early diagnosis,while active antiviral therapy and immunotherapy may improve patient outcomes.

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Skin biopsy, as a screening method, has greatly improved the diagnostic efficiency of the disease. Recently, researchers have successfully identified that the GGC repeat expansion in the 5' region of the NOTCH2NLC gene is the causative mutation of NIID. In addition to the typical NIID phenotype presenting with episodic/progressive encephalopathy, peripheral neuropathy, and autonomic disturbance, the gene mutation had also been reported to be associated with a small portion of Alzheimer 's disease, Parkinsonism, multiple system atrophy and essential tremor patients. So, the name of NOTCH2NLC-related repeat expansion disorder was proposed to include these variable phenotypes. We revisited the discovery milestones, clinical phenotype, laboratory examinations, as well as new insight into diagnosis and treatment of NIID.

OBJECTIVETo describe clinical and genetic feature in a Chinese family with familial idiopathic basal ganglia calcification 3 (IBGC-3) caused by a novel mutation in the SLC20A2 gene.

METHODSClinical data was collected from a family with familial IBGC-3. All of the family members underwent cerebral CT. Potential mutation of the SLC20A2 gene were screened in the proband, 5 symptomatic patients, 5 asymptomatic family members, and 100 healthy Chinese controls. Exon 8 of the SLC20A2 gene was cloned into plasmid and sequenced.

RESULTSThere were 6 symptomatic patients (3 males and 3 females) in an autosomal dominant pedigree. The patients manifested as juvenile-onset paroxysmal kinesigenic dyskinesia, in addition to pyramidal signs in proband. 5 patients alive had calcification in bilateral basal ganglia and subcortical areas. One asymptomatic member also had calcification in the brain; and 2 cases of asymptomatic young members had bilateral globus pallidus calcification. A novel c.1086delC mutation in SLC20A2 gene has been identified in proband and 7 family members with intracranial calcification. The deletion mutation was not found in 2 family members without intracranial calcification and healthy controls members. There is no clear relationship between clinical symptoms and the severity of calcification in cerebral CT.

CONCLUSIONFamilial idiopathic basal ganglia calcification caused by the SLC20A2 gene mutation can manifest as juvenile onset paroxysmal kinesigenic dyskinesia. Further study should be done to validate the unrelated relationships between the severity of calcification in IBGC 3 cranial CT and clinical symptoms.

Adolescent ; Adult ; Basal Ganglia Diseases ; genetics ; Calcinosis ; genetics ; Child ; Female ; Humans ; Male ; Mutation ; Neurodegenerative Diseases ; genetics ; Sodium-Phosphate Cotransporter Proteins, Type III ; genetics ; Tomography, X-Ray Computed

Objective To investigate the clinical features,the radiological characteristics,and the pathological changes of cerebral sparganosis.Methods We retrospectively collectted and summarized the clinical data of 42 patients with cerebral sparganosis from the Iinstitute of Anti-parasitic Diseases of Jiangxi Province and the First Affiliated Hospital of Nanchang University during January 2000 to January 2014.The follow-up period of the 42 patients ranged from 4 to 96 months.Results Forty-two cases (30 males and 12 females) with cerebral sparganosis were enrolled in the study.Among the 42 patients,34 cases suffered from seizures,16 cases experienced headaches,and 14 cases had limb weakness.The brain CT scan showed the small and punctuate calcifications scattering around the lesions in 18 cases.The features of enhanced MRI included aggregating ring-like enhancement in 38 cases,tunnel lesions in 14 cases,and lesion migration in 13 cases.Twenty-four of the 42 patients were performed surgery.The brain tissues revealed multiple inflammatory tunnels,in which live or degenerated larvae were identified in 20 cases,but only eosinophilia tunnels were observed in the other 4 cases.The serum and cerebro-spiral fluid specimens from 18 patients without surgery were positive to spirometra mansoni antigen.Their cerebral lesions disappeared and got a favorable prognosis after administration of praziquantel in long term follow-ups.Conclusions There is a high incidence of cerebral sparganosis in Poyang lake basin.The clinical features of cerebral sparganosis mainly include seizure,headache and hemiparesis.The enhanced lesions show knot or tunnel signs on multi-planar MRI which are associated with the multiple inflammatory tunnels of larvae migration.A longterm administration of high dose opraziquantel can also get a good treatment prognosis without the classical surgical therapy for cerebral sparganosis.

Objective To investigate hemorrhagic transformation (HT) and outcomes in acute ischemic stroke.Methods The demographics,vascular risk factors,imaging and other clinical data in patients with acute ischemic acute were collected retrospectively and compared.Using the susceptibility weighted imaging (SWI) to diagnose HT,and the patients were divided into either a HT group or a non-HT group.The modified Rankin scale was used to evaluate the clinical outcomes.Multivariate logistic regression analysis was used to determine the independent risk factors for HT and poor outcome in HT patients.Results A total of 96 patients with acute ischemic stroke were enrolled and 34 of them had HT (35.4％).The age (66.21 ± 7.04 years vs.61.21 ±13.42 years; t =2.020,P=0.046) and infarct volume (3.88 ±2.20 cm3 vs.1.96 ± 1.37 cm3; t =5.67,P=0.001) in the HT group were significantly older or larger than those in the non-HT group.The proportions of hypertension (58.8％ vs.30.6％;x2 =7.228,P=0.007),diabetes (29.4％ vs.6.5％;x2 =9.293,P=0.002),atrial fibrillation (35.3％ vs.3.2％;x2=18.128,P=0.000),and cardiogenic cerebral embolism (35.3％ vs.3.2％ ; P =0.000) were significantly higher than those in the non-HT group,while the proportion of small arterial occlusive stroke was significantly lower than that in the non-HT group (38.2％ vs.62.9％ ;P =0.032).Multivariate logistic regression analysis showed that age (odds ratio [OR] 1.168,95％ confidence interval [CI] 1.059-3.412; P =0.021),infarct volume (OR 3.461,95 ％ CI 1.317-6.270; P =0.044) and atrial fibrillation (OR 1.284,95％ CI 1.117-2.903; P =0.015) were the independent risk factors for HT.In the HT patients,age (69.46 ±7.17 years vs.64.19 ±6.31 years; t =2.248,P =0.032) in the poor outcome group was significantly older than that in the good outcome group.The proportions of hypertension (84.6％ vs.42.9％ ;x2 =781,P =0.016),diabetes (50.0％ vs.14.3％ ;x2 =6.053,P =0.014),cardiogenic cerebral embolism (61.5％ vs.19.0％ ; P =0.025) and hematoma HT (76.9％ vs.19.0％ ;x2 =11.104,P =0.001) were significantly higher than those in the good outcome group.Multivariate logistic regression analysis showed that the diabetes (OR 2.151,95％ CI 1.179-3.218; P =0.023),atrial fibrillation (OR 4.136,95％ CI1.010 to 8.413; P =0.046) and hernatoma HT (OR 2.134,95％ CI 1.219-4.452; P =0.039) were the independent risk factors for the poor outcomes of HT patients at 3 months after symptom onset.Conelusions The incidence of HT in patients with acute ischemic stroke was 35.4％.Age,infarct volume and atrial fibrillation were the independent risk factors for HT,and diabetes,atrial fibrillation and hematoma HT were the independent risk factors for the poor outcomes in HT patients at 3 months after symptom onset.

Objective To investigate the clinical features,etiology and risk factors of the inpatients with ischemic stroke in the Department of Cardiology.Methods The medical records of the inpatients with ischemic stroke and the inpatients in a control group were collected retrospectively.The demographics,vascular risk factors,clinical features,and other related factors were compared in both groups.Multivariate logistic regression analysis was used to analyze the independent risk factors for in-hospital ischemic stroke in the Department of Cardiology.Results A total of 2 789 inpatients in departments of cardiology were enrolled,and 26 of them (0.93％) had in-hospital stroke.One hundred thirty inpatients from 2 763 patients without in-hospital stroke were used randomly as control cases.The proportions of the inpatients of hypertension (73.08％ vs.50.77％ ; x2=4.348,P=0.037),atrial fibrillation (50.00％ vs.15.38％; x2=15.56,P=0.000),infection (30.77％ vs.7.69％ ; x2 =11.304,P =0.003),smoking (46.15％ vs.21.54％ ; x2 =6.886,P =0.009),alcohol (26.92％ vs.11.54％ ;x2 ＝ 4.233,P =0.040),previous stroke history (19.23％ vs.4.61％ ;x2 =7.062,P =0.008),and taking anti-hypertensive drugs (42.31％ vs.21.54％ ;x2 =4.985,P =0.026),as well as systolic blood pressure (143.43 ± 18.59 mm Hgvs.129.52 ± 23.52 mm Hg; t =3.209,P=0.003; 1 mmHg =0.133 kPa),diastolic blood pressure (88.77± 11.35 mm Hg vs.77.55± 14.60 mmHg; t=2.421,P =0.020),and homocysteine levels (19.27 ± 11.08 μnol/L vs.15.30 ±5.25 μmol/L; t =2.814,P =0.006) in the stroke group were significantly higher than those in the control group in the Department of Cardiology.Multivariate logistic regression analysis showed that atrial fibrillation (odds ratio [OR] 3.310,95％ confidence interval [CI] 1.207-9.076; P =0.020),infection (OR 3.270,95％ CI 1.024-10.438; P =0.045),systolic blood pressure (OR 1.023,95％ Cl 1.002-1.045; P =0.031),and homocysteine level (OR 1.089,95％ CI 1.009-1.175; P =0.029) were the independent risk factors for in-hospital ischemic stroke in the Department of Cardiology.Conclusions Atrial fibrillation,infection,systolic blood pressure,and high homocysteine levels are the independent risk factor for in-hospital ischemic stroke in the Department of Cardiology.Active intervention and control these risk factors may have great significance for reducing its risk.

Objective To report the clinical features and inwardly rectifying potassium channel 18 (KCNJ18) gene mutation in a group of patients with thyrotoxic periodic paralysis (TTP).Methods Fiftyseven TTP cases (55 male and 2 female) were collected in our clinic from July 2002 to October 2011.The KCNJ18 gene was directly sequenced in 57 TTP patients and 50 health Chinese controls through the nested PCR.According to the results of gene screening,the clinical features of KCNJ18 patients and non-KCNJ18 patients were retrospectively summarized and analyzed.Results In 4 male patients with TPP,we found 3 novel heterogeneous mutations (p.Q126X,p.K360T,p.E388K) and 1 reported mutation (p.A200P) in the KCNJ18 gene.The age of onset was 19-25 years old,and the duration ranged from 2 to 8 hours.The 4 patients all presented severe muscle weakness.The attacks of muscle weakness preceded overt symptoms of hyperthyroidism in the 4 patients. Three patients showed recurrent weakness during the 13-28 months follow-up,while the episodic weakness never appeared when patients got euthyroid. Conclusions The mutations in the KCNJ18 gene are responsible for a part of Chinese patients with TPP.The patients with KCNJ18 mutations have a shorter disease course,severer manifestation,and higher prevalence of recurrence as compared with those TPP patients without KCNJ18 mutations.

ObjectiveWe report the clinical and pathological features of 8 Chinese myopathy patients with antibodies to the signal recognition particle(SRP).MethodsSerum myositis antibody profiles were tested with immunoblotting.Muscle biopsies were performed for histological,enzyme histochemical and immunohistochemical stainings.The first antibody in the immunohistochemical staining was mouse anti-human monoclonal antibodies including CD8,CD20,CD68,MHC- Ⅰ and CD31.ResultsEight cases showed stark positive of anti SRP antibody,3 of them with positive anti Ro-52 antibody.The muscle biopsies showed necrotic and regenerative muscle fibers associated with infiltration of macrophage,but scattered T lymphocytes in 2 patients.Two of them presented with fiber hypertrophy and proliferation of connective tissue.There were some fibers with positive MHC-Ⅰexpression.Capillaries were almost normal.Conclusion The muscle weakness of myopathy with antibodies to SRP presents as a chronic progressive course and could associate with lung involvement.Fiber necrosis and regeneration are the main myopathological features,which can mimic muscular dystrophy in some cases.

ObjectiveTo investigate the characteristic of pathology in Chinese patients with Nonaka myopathy.MethodsThirteen patients (7 males and 6 females) diagnosed with Nonaka myopathy in our laboratory from January 2002 to March 2011 were included in this study.Their mean age was 39.5 years old and the mean duration of illness was 4.15 years.The most common symptoms were weakness of raising feet with sparing of quadriceps femoris muscles in the early stage of disease.One patient presented the initial symptoms of upper limb weakness. Muscles biopsies were obtained from all these 13 patients. Histology study including immunohistochemical (IHC) staining with antibody against amyloid 3,phosphorylated tau protein,ubiquitin,glucose-regulated protein of molecular weight 78 000(GRP78),calnexin,caspase-12and Bax were performed.Skeletal muscle samples from 3 chronic fatigue syndrome patients,2 myofibrillar myopathy patients were used for control in the IHC staining. All coding exons of uridinediphospho-N-acetylglucosamine 2-epimerase gene were directly sequenced in genomic DNA from these patients.Results The main pathological changes of tibialis anterior muscle in 12 cases were muscle dystrophy with rimmed vacuoles.The rimmed vacuoles were positive for anti-β-amyloid,tau protein and ubiquitin in IHC studies.In the atrophy fibers,IHC showed the increased expression of endoplasmic reticulum stress related proteins GRP78 and calnexin,and apoptosis proteins of caspase-12 and Bax.ConclusionsThere is accumulation of abnormal proteins in muscle fibers in Chinese patients with Nonaka myopahty.These proteins may stimulate endoplasmic reticulum stress and apoptosis,which may be a mechanism responsible for muscle damage.

ObjectiveTo report a novel HTRA1 gene mutation caused cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) with migraine,urinary retention and constipation.MethodsThe patient was a 34-year-old woman who suffered from myalgia with cramp for 16 years,lumbago for 5 years,migraine and mild alopecia for 3 years,right hemiparesis for 5 months,and urinary retention and constipation for 1 month.Vertebral MRI showed degeneration of vertebral bodies with disc herniations.Brain MRI revealed diffuse white matter lesions and lacunar infarcts.Sural nerve and skin biopsies were performed in the patient. HTRA1 gene analysis was performed in patient,her parents and 2 brothers,and Notch3 gene analysis in the patient.ResultsThe sural biopsy demonstrated discontinuous of elastica internal with thickness of intima of arterioles.The capillary basement membranes were thickness with mini granular changes.A homozygous T to A transition at position 524( c.524T ＞ A) was found in HTRA1 gene.The heterozygous c.524T ＞ A mutation appeared in the parents and 2 brothers,but not in the controls.Notch3 mutations were not found in the patient. Conclusion CARASIL caused by novel homozygous c.524T ＞ A mutation of HTRA1 gene can present with migraine,urinary retention and constipation.