Objective To analyze the clinical, imaging characteristics and NOTCH3 mutations of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) in Henan, China.Methods CADASIL patients diagnosed by gene or biopsy in People′s Hospital of Zhengzhou University between 2012-2016 were recruited.Clinical and imaging features of these patients were analyzed retrospectively.The distribution of NOTCH3 gene mutations hotspots was described in Henan region at the same time.Results There were 37 patients from 19 families who were diagnosed as CADASIL by genetic testing or biopsy, 27 of whom had symptoms of CADASIL.Two families were confirmed by pathological examination and 17 by genetic testing.Of these 17 families, 13 mutations were found.Mutations in exon 11 were found in eight families, in exon 4 were detected in four families, and in exon 13 were found in two families.Mutation in exons 3, 8 and 20 was detected in one family respectively.Most patients presented with stroke and several presented with cognitive decline.Twelve patients had been attacked by risk factors.Magnetic resonance imaging (MRI) was performed on 22 patients.White-matter lesions were distributed in brain stem, basal ganglia, subcortical, temporal pole, external capsule.There were 19 patients with white-matter lesions in temporal pole and seven in capsula externa, showed as a high signal in T2WI.Conclusions CADASIL patients can be associated with risk factors.T2WI hyperintensities in the anterior temporal lobe were more common than that in the capsular external.Exon 11 and exon 4 were the hotspots for the NOTCH3 mutation in Henan patients.

Objective To investigate the clinical manifestations,imaging features,molecular genetic characteristics and possible pathogenic mechanisms of hereditary cerebral small vessel disease (CSVD) caused by heterozygous mutation of HtrA serine protease-1 (HTRA1) gene.Methods The clinical data of a Chinese Han family with CSVD carrying a heterozygous mutation of HTRA 1 gene,which came from the Department of Neurology,Henan Provincial People's Hospital in March 2018,were analyzed retrospectively.The clinical and radiographic features were summarized.Several high-throughput whole exon high-throughput sequencing was used to capture the mutation sites and the Sanger sequencing was used to validate the results.The family diagram was drawn and the 3D model construction and mutation function prediction were performed using silico tools.The relevant literature was reviewed and the pathogenesis was explored.Results The pedigree map showed that the family had an autosomal dominant inheritance pattern.Three generations of the family were investigated,and three family members in the same generation suffered from the disease.The first symptom of the proband was diplopia at the age of 39,accompanied by recurrent stroke,cognitive impairment and mood disorders,without alopecia.Head magnetic resonance imaging revealed bilateral diffuse,symmetric lesions,multiple lacunar infarcts,perivascular space,and microbleeds.The elder sister of the proband developed symptoms of left limb weakness at the age of 46,whose other clinical and imaging features were similar to those of the proband.The proband's mother died at the age of 59 due to repeated strokes.Whole exon sequencing indicated heterozygous missense mutation at c.821G＞A locus of HTRA1 gene in the proband and her 4th elder sibling,which was a new pathogenic mutation after consulting several mutation sites of databases.Function prediction suggested pathogenicity.Conclusions The heterozygous mutation of c.821G＞A in HTRA1 gene may lead to autosomal dominant CVSD.This genetic type should be given clinical attention.

Objective To investigate the clinical features and therapy of persistent bacterial bronchitis (PBB).Method A retrospective review of 31 patients with PBB from Octorber 2010 to May 2014 in Department 2 of Respiratory Diseases in Beijing Children's Hospital was undertaken.Result (1) The patients (17 boys and 14 girls) were 6 months to 3 years old.The main complaint was chronic wet cough (＞4 weeks);13 cases had fever and 25 cases had wheezing.Rattle was heard on auscultation in all patients.(2) Chest X ray showed an increase in bronchovascular markings in all cases,accompanied by patchy infiltration in 6 cases.The high resolution computed tomography (HRCT) demonstrated bronchial wall thickening in 25 cases,associated with peri-bronchial patchy infiltration in 18 cases,with organized pneumonia in 7 cases (atelectasis in 5 cases).Centrilobular nodules and ground-glass opacity were observed in the remaining 6 patients.(3) Purulent secretion was seen in endobronchial cavity by bronchoscopy.Streptococcus pneumoniae was isolated from sputum culture or bronchoalveolar lavage fluid culture in 16 patients.(4) Patients recovered completely after over 2 weeks' treatment with amoxicillinclavulanate or the second and third generation cephalosporin (including enzyme inhibitors) in 28 cases,carbapenems,teicoplanin,linezolid in 1 case respectively.Conclusion PBB often occurred in 3 years old or younger patients and had chronic wet cough for more than 4 weeks,fever and wheezing.HRCT may reveal bronchial wall thickening,respiratory secretions culture may reveal Streptococcus pneumoniae.Most of patients recovered completely after over 2 weeks'treatment with amoxicillin-clavulanate or the second or third generation cephalosporins (including enzyme inhibitors).

Objective To analyze the clinical presentation , the mutation of the pathogenic genes and imaging features in a Chinese Han early-onset Alzheimer's disease pedigree.Methods A pedigree of Alzheimer's disease was collected.The DNA sequence of presenilin 1 (PSEN1), presenilin 2, micro-tubule associated protein tau ,β-amyloid precursor protein gene was analyzed , the clinical presentation , results of accessory examination , neuropsychological evaluation of the proband were investigated and the point mutations of some members of the family , 50 sporadic Alzheimer's disease patients , 50 normal controls were verified.Results The proband of the family appeared as language impairment , memory loss, personality change, repeated language, visuospatial impairment, mental and behavior disorder.The gene detection showed p.L226R mutation in the condon 226 in the exon 7 of PSEN1 gene of the proband and five other family members (Ⅲ1 ,Ⅲ2 ,Ⅲ4 ,Ⅲ6 ,Ⅲ7 ).The mother of the proband had the suspicious symptoms , and the sister and the brother of the proband had the similiar symptoms with the proband , all of whom died.Fifty sporadic Alzheimer'disease patients and 50 unrelated normal subjects did not have the mutation .The computed tomographic angiography showed that the brain blood vessels were normal and 18 F-fludeoxyglucose positron emission tomography (18F-FDG-PET) showed brain atrophy and hypometabolism in frontotemporal regions, parietal regions, hippocampal areas, however, the MRI, MRA and 18F-FDG-PET of the two mutation carriers (Ⅲ6 ,Ⅲ7 ) were all normal.Conclusion We reported a novel mutation in an early-onset Alzheimer's disease family presented as language impairment in the early stage of the disease , the p.L226R mutation of PSEN1, which may be a pathogenic mutation to cause the family's dementia.

Objective:To investigate the diagnostic value of computed tomography(CT)combined with TaqMan probe for cardiopulmonary injury of pediatric patients with mycoplasma pneumonia of different clinical features.Methods:The medical records of 80 pediatric patients with mycoplasma pneumonia admitted to Shijiazhuang Maternal and Child Health Care Hospital from March 2020 to March 2023 were collected,and they were divided into<1 year old group(29 cases),1-3 years old group(23 cases)and>3 years old group(28 cases).They also were divided into long disease course group(43 cases,the disease course>7 d)and short disease course group(37 cases,the disease course≤7 d).All of pediatric patients underwent CT combined with TaqMan probe method to detect the cardiopulmonary injury,and to analyze the incidences of cardiopulmonary injury in pediatric patients of different age groups and different disease course groups.The CT and TaqMan probe were adopted to detect the pleural effusion,myocardial thickness,cardiothoracic ratio and the expression level of mycoplasma nucleic acid,and receiver operating characteristic(ROC)curves were adopted to analyze the diagnostic value of CT and probe in detecting cardiopulmonary injury of patients with mycoplasma pneumonia.Results:CT imaging showed that typical pulmonary abnormalities were present in patients of 62.5%,with a diagnostic accuracy of 93.75%(75/80),which main findings were pulmonary ground glass nodules(GGO),combined bacterial pneumonia and reticulation.Bronchiectasis was found in a small portion of patients.Bilateral pulmonary involvement was found in patients with pulmonary abnormalities,and the involvement of lower lobe was the most obvious in them.The 38 pediatric patients with clinically suspected incidental pulmonary embolism(PE)received additional CT examination with contrast agent,and the 24 pediatric patients of them were diagnosed as PE,and the diagnostic accuracy was 63.15%(24/38).TaqMan probe method was adopted to detect mycoplasma infection,and a high sensitivity and wide dynamic range detection system was established,which could conduct six times of dilutions for 10-fold between 0.2-0.2×10-5.Preparation was performed in 1 ng/μ l microbial community(MMC)-DNA standards,which had high linear dynamic range of 6 times of log10 dilutions with regression coefficient of R2=1.The detection lower limit was found to be 2×10-15 g/μl DNA.The incidence of cardiopulmonary injury gradually decreased with increasing age of pediatric patients with mycoplasma pneumonia of different ages.The incidences of cardiopulmonary injury in pediatric patients with mycoplasma pneumonia of<1 year old group,1 to 3 years old group and>3 years old group were respectively 93.10%,73.91%and 21.43%,and there were significant differences among the 3 groups(x2=7.660,33.019,P<0.05).The incidence(93.02%)of cardiopulmonary injury of long disease course group was significantly higher than that of short disease course group(27.03%),and the differences were statistically significant(x2=12.070,36.960,P<0.05),respectively.The amount of pleural effusion in the cardiopulmonary injury group was significantly higher than that in the non-cardiopulmonary damage group,and the myocardial thickness of cardiopulmonary injury group was significantly increased at the same time,and the cardiothoracic ratio of cardiopulmonary injury group was also significantly higher than that of non-cardiopulmonary injury group.There was significant difference in the expression level of mycoplasma nucleic acid(t=9.52,3.33,4.22,10.00,P<0.05).ROC curve analysis showed that the AUC value of CT combined with TaqMan probe method was larger than 0.5 in diagnosing cardiopulmonary injury of pediatric patients with mycoplasma pneumonia of different clinical features,and the AUC value of the combined diagnosis was largest.Conclusion:CT combined with TaqMan probe method has higher diagnostic value for the cardiopulmonary injury of pediatric patients with mycoplasma pneumonia.It should be considered to conduct the diagnosis of cardiopulmonary injury for pediatric patients who persistently exist the clinical symptom of mycoplasma pneumonia.The adaptation of existing TaqMan probe method,and the further expanded dPCR detection combination would improve the microbial diagnostic toolbox,which would provide reliable quantitative data for treatment decisions to cardiopulmonary injury of pediatric patients with mycoplasma pneumonia.