Objective To investigate the NOTCH3 gene mutation and clinical features in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) families.Methods The clinical features of 4 CADASIL probands in Henan,China were analyzed retrospectively,and the incidences of other members in their families were investigated.The NOTCH3 gene mutations in the 3rd,4th,llth,and 18th exons were detected and the results were analyzed in the patients and some family members.Results Gene sequencing showed that 6 patients in 4 families and 1 mutant carrier had NOTCH3 gene R607C mutation in exon llth,they all met the clinical features of CADASIL.Three patients accompanied with vascular risk factors.The clinical stroke patients had unilateral limb weakness.All 5 patients with complete head MRIdata had thalamic infarction.Conclusions In the 4 CADASIL families of R607C mutation,the clinical features of 6 patients with CADASIL were similar,but there were individual differences in different family members.Imaging examination has important role in the diagnosis of CADASIL.The vascular risk factors,such as hyperte.

Objective To determine the clinicopathologic characteristics and prognostic factors that may be used to predict the poor outcome of patients with borderline ovarian tumors. Methods All cases with borderline ovarian tumors treated in the West China Second University Hospital from January 2001 to June 2007 were analyzed retrospectively for elinicopathologic features, treatment parameters and outcome of treatment. Univariate and multivariate analyses were used to assess independent prognostic factors using the logistic regression model. Results The median age of 234 patients was 40. 1 years with a range of 14 to 80 years. There were 101 (43.2%), 94 (40.2% ) , 19 (8.1% ), 12 (5.1%) , 8 (3.4%) cases of serous, mutinous, mixed, endometrioid and clear cell tumors, respectively. Out of 234 cases, 182 (77.8%) underwent laparotomy and 45 ( 19.2% ) underwent laparoscopy. Seven women underwent laparoconversion. Fertility sparing surgery was performed on 119 cases (50.9% ) and radical surgery was performed on 115 cases (49.1% ). Totally 161 (68.8% ) patients had stage Ⅰ , 19 ( 8.1% ) had stage Ⅱ, 54 ( 23.1% ) had stage Ⅲ, and none had stage Ⅳ disease. Sixty-four women received postoperative chemotherapy. The median follow-up was 40 months with a range of 8 to 78 months. Recurrence was found in 26 cases (11.1%) during follow-up, and no tumor-related death was reported. The logistic regression model showed that surgery procedure ( OR=2.304, P=0.024), cyst rupture ( OR=2.213, P=0.038 ), stage ( OR= 4.114, P<0.01 ), microinvasion ( OR=2.291, P=0.046) and peritoneal implants ( OR=2.101, P = 0.016) were the five independent prognostic factors affecting recurrence. Conclusions Although patients with borderline ovarian tumors have an excellent prognosis, the risk of recurrence remains in some patients. Emphasis should be put on these patients with high risk factors and preventive strategies should be taken to prevent their progression.

This paper reports the applications of a local non-linear projection technique to extract the fetal component in single-lead recordings from the abdomen of a pregnant woman. We propose the general planning, and then we determine and illustrate four important parameters in the algorithm. The results of experiments show that the method is effective for separating the fetal ECG from the maternal trace and from the other contaminations.
Algorithms ; Electrocardiography ; methods ; Female ; Fetal Heart ; physiology ; Humans ; Nonlinear Dynamics ; Pregnancy ; Signal Processing, Computer-Assisted

The electrocardiograph signal presents the sparseness. In this paper, a new method of extracting the Fetal Electrocardiograph (FECG) is proposed, which uses the Blind Source Separation(BSS) of Sparse Signal. Both the Wavelet Analysis method and a new scheme named Vanish Circle are also involved in order to avoid the influence on the signal separation, because the ECG signals are not completed sparse signals. Some experiments show that the new method is effective.
Adult ; Algorithms ; Electrocardiography ; methods ; Female ; Fetal Heart ; physiology ; Fetal Monitoring ; methods ; Humans ; Pattern Recognition, Automated ; methods ; Pregnancy ; Signal Processing, Computer-Assisted

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 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.

OBJECTIVETo investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms.

METHODSClinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing.

RESULTSThe symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine. Cranial MRI of the patient showed bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. A point mutation in exon 11 of the NOTCH3 gene (R558C) was discovered in the proband and four asymptomatic relatives.

CONCLUSIONCADASIL is characterized by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and mood disturbance. Baldness, lumbago and Parkinson's symptoms may also be seen in such patients.

Alopecia ; etiology ; CADASIL ; complications ; diagnostic imaging ; genetics ; Humans ; Low Back Pain ; etiology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Parkinsonian Disorders ; etiology ; Receptor, Notch3 ; genetics

Objective To investigate the frequency and location of cerebral microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) to understand the imaging and clinical features of the disease.Methods Cranial magnetic resonance imaging and susceptibility-weighted imaging were assessed in seven symptomatic CADASIL patients in People's Hospital of Zhengzhou University from 2014 to 2017.Imaging features and clinical significance of these patients were analyzed retrospectively.Results The seven patients were diagnosed by Notch3 gene detection.Mutations were found in exon 11 in four cases,and in exon 4 in three cases.All the seven patients with CADASIL had cerebral microbleeds,the number of which was 108 (4-36).The number of cerebral microbleeds was found to be higher in cortico-subcortical region than in any other regions.One of CADASIL patients with cerebral microbleeds had intracerebral hemorrhage located in external capsule.The patient with intracerebral hemorrhage had hypertension and multiple cerebral microbleeds.Conclusions Cerebral microbleeds are common imaging characteristics in symptomatic CADASIL,most of which locate in cortico-subcortical region.Cerebral hemorrhage is one of the clinical manifestations of CADASIL patients.