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Objectives:To study the molecular characteristics, virulence gene and resistance profiles of Staphylococcus aureus ( S. aureus, SA) isolates from bloodstream infections (BSI), so as to further understand the molecular characteristics of S. aureus in pediatric patients. Methods:A total of 53 S. aureus strains in bloodstream infections from Shanghai Children′s Hospital between 2016 and 2021 were collected. Antimicrobial susceptibility test were adopted by instrumental and disk diffusion method. Thirty-two kinds of virulence genes were detected by PCR and underwent multi-locus sequence typing (MLST), Staphylococcus protein A (spa) typing and staphylococcal chromosome cassette (staphylococcal cassette chromosome mec, SCCmec) typing characterizing methicillin-resistant Staphylococcus aureus (MRSA). Statistical analysis was performed using χ 2 test or Fisher exact test. Results:MRSA isolates accounted for 50.94% of the total(27/53), with ST398-t034-SCCmecV (6/53, 11.32%) and ST59-t437-SCCmecIV (4/53, 7.55%) as the most common MRSA clones. Methicillin-sensitive Staphylococcus aureus (MSSA) isolates occupied 49.06% (26/53), among which typing ST22-t309 (3/53, 5.66%) and ST7-t091/t1685 (2/53, 3.77% each) were prevalent. Of the 53 strains, all carried ≥6 virulence genes, 33 strains (62.26%) carried ≥10 virulence genes, including 18 strains of MSSA (69.23%) and 15 strains of MRSA (55.56%). The carriage rate of pvl gene in MSSA was higher than that of MRSA isolates (12/26, 33.33% vs. 6/27, 22.22%), and sasX was only detected in MRSA isolates (4/53, 7.55%). The resistant rates of BSI-SA isolates to penicillin, erythromycin and clindamycin were 98.11%, 49.06% and 41.51%, respectively. MRSA were more resistant to clinical antimicrobial agents than MSSA. Conclusions:MRSA strains cover a high proportion in S. aureus bloodstream infection of children, with ST398-t034 and ST59-t437 being the most common clones. The virulence gene carrying rate for BSI-SA was high with a greater pvl gene carrying rate in MSSA isolates while sasX was only detected in MRSA isolates. More clinical attention should be paid to the high resistance status and virulence genes characteristics of BSI-SA.
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Novel coronavirus (2019-nCoV) is the pathogen of COVID-19. Some severe cases may suffer from respiratory failure or even death, which poses a great challenge to global public health. 2019-nCoV proteins not only participate in virus proliferation, but also play an important role in antagonizing host innate immune response, especially interferon response. In this paper, 2019-nCoV proteins involved in regulating host interferon response and the complex interaction between 2019-nCoV and interferons were summarized, aiming to provide a theoretical reference for the prevention and control of COVID-19.
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The pathophysiology of ischemic stroke involves the vascular neural network. Cerebral vein is an indispensable part of vascular neural network, which can provide effective drainage pathway and maintain sufficient cerebral perfusion. More and more evidence have shown that the normal function of cerebral venous drainage system may be as important as arterial perfusion for the outcome of patients with ischemic stroke. However, compared with the cerebral artery system, the cerebral venous system has not attracted enough attention. This article reviews the anatomy of cerebral venous system, the imaging changes after ischemic stroke, and the possible mechanisms of cerebral venous system involved in ischemic stroke and its related complications.
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Background:Malnutrition is common in patients with cancer, whichadversely affectsthesurvival and quality of life ofcancer patients.However, there is no national data on the prevalence of malnutrition inChinese cancer patients. Thisstudy aims to evaluate the prevalenceof malnutrition and quality of life(QOL)ofChinese patients with localregional, recurrentor metastatic cancer,to address the prognostic value of nutritional status and QOLon the survival of cancer patients in China and to validate the patient-generated subjective global assessment (PG-SGA) questionnaire in Chinese cancer patients.Methods:Thisisanobservational,multi-centered,and hospital-based prospective cohort study.We aimed to recruit 50,000 cancer patients (age 18and above)overan 8-year period.Data collection will occur within 48hrafter patientsare admitted to hospital, 30-days after hospital admission, and the follow-up will be conducted1-8years after enrolment. The primary outcomeisoverall survival, and secondaryoutcomes arelength of hospital stay and hospital costs. Factors measured are demographic characteristics, tumor characteristics, anthropometry measurements,hematological measurement, body composition, PG-SGAscores,Karnofsky performance status scores,and QLQ C30 scores. This protocol wasapproved by local ethical committees of all the participant hospitals.Conclusions: This multi-centered, large-scale, long-time follow-up prospective study will help diagnose malnutrition in cancer patients in China, and identify the related risk factors associated with the negative outcomes. The anticipated results will highlight the need for a truly scientific appraisal of nutrition therapy, and help to improve outcomes among cancer patients in China.Trial Registration: The trial has been registered with the Chinese Clinical Trial Registry, ChiCTR1800020329. Registered on 19 December 2018
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OBJECTIVE:To study the pr otective effect of schisandrin A (SA)on CCl 4-induced liver fibrosis model mice and its mechanism. METHODS :Mice were randomly divided into blank control group ,model group ,silymarin group (positive control,100 mg/kg),SA low-dose and high-dose groups (20,40 mg/kg),with 10 mice in each group. Except for blank control group,other groups were given CCl 4 subcutaneously to induce liver fibrosis model. After successful modeling ,administration groups were given relevant medicine intragastrically ,once a day ,for consecutive 6 weeks;blank control group and model group were given constant volume of 0.5%sodium carboxymethyl cellulose solution intragastrically by the same way. HE staining was used to observe the pathological changes of liver tissue in mice. UV spectrophotometry and ELISA assay were adopted to detect the serum levels of liver injury indexes (ALT and AST )and the contents of inflammatory factors (TNF-α,IL-1β,IL-6). Western blotting assay was used to detect the expression of NOD like receptor protein 3(NLRP3)/NF-κB and TGF-β/Smad signaling pathway protein. RESULTS :Compared with blank control group ,obvious pathological changes of liver fibrosis were observed in model group. The serum levels of liver injury indexes and contents of inflammatory factors were significantly increased (P<0.01). The expression of NLRP 3,apoptosis associated spot-like protein ,Caspase-1 and IL- 1β,TGF-β1 and ratios ofp-NF-κB p65/NF-κB p65,p-IκBα/IκBα,p-Samd3/Smad3 were increased significantly (P<0.01). Compared with model group ,SA could significantly relieve hepatic fibrosis in mice ,reduce serum levels of liver injury indexes and contents of inflammatory factors ,as well as the expression of NLRP 3/NF-κB and TGF-β/Smad signaling pathway protein and phosphorylation level(P<0.01). CONCLUSIONS : SA can effectively relieve liver injury and inflammation of CCl 4-induced hepatic fibrosis model mice ,which may be through the regulation of NLRP 3/NF-κB and TGF-β/Smad3 signaling pathways ,thus inhibiting the process of liver fibrosis.
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Objective:To summarize the clinical and imaging features of five patients of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with cysteine-sparing NOTCH3 gene missense mutations and explore potential pathogenicity of gene mutations.Methods:The clinical data from five patients who were admitted to the People′s Hospital of Zhengzhou University from March 2017 to November 2018 were collected. The patients were found to carry cysteine-sparing NOTCH3 gene mutations through genetic testing and diagnosed pathologically. They were probands confirmed from five unrelated family and all five patients were performed full exon detection and skin biopsy.Results:Genetic testing identified five patients with cysteine-sparing NOTCH3 gene missense mutations, a total of five different mutations, including p.R75Q, p.D80G, p.V237M, p.S1418L and p.R1761H. The first three mutations were found in the epidermal growth factor-like repeats (EGFr), the latter two mutations near the transmembrane domain. Granular osmiophilic material was identified in all cases examined with skin biopsy. The age at initial symptom onset of these five cases was ranged from 22 to 58 years and three cases presented cardiovascular risk factors. The primary clinical manifestations included migraine in one case, ischemic stroke in three cases, psychiatric disturbances in four cases, cognitive dysfunction in five cases, while gait disturbance, pseudobulbar palsy, and seizures accounted for only one case each. Magnetic resonance imaging of five patients all showed white matter hyperintensities (WMLs) and lacunar infarcts, and WMLs involved the anterior temporal pole and external capsules in three cases separately. According to the criteria proposed by Mui?o et al for evaluating the pathogenicity of cysteine-sparing NOTCH3 mutations, all five mutations are potentially pathogenic.Conclusions:Most characteristics of CADASIL patients with cysteine-sparing NOTCH3 gene mutations are similar to those of CADASIL patients with cysteine NOTCH3 gene mutations. Mutations not involving the EGFr may also have potential pathogenicity, and the specific mechanism still needs further study.
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Objective To investigate the distribution and resistance profile of bacterial isolates in Shanghai Children's Hospital. Methods Antimicrobial susceptibility of all isolates was determined by Kirby-Bauer disk diffusion method according to 2016 CLSI standard. The data were analyzed by WHONET 5.6 software. Results A total of 23 259 non-duplicate strains were isolated from 2011 to 2016, including 10 885(46.8%)gram-postive cocci and 12 374(53.2%)gram-negative bacilli. The average prevalence of methicillin-resistant S. aureus(MRSA)and coagulase-negative Staphylococcus(MRCNS)was 35.8% and 82.2%, respectively. The prevalence of MRSA rose from 27.4% in 2011 to 42.9% in 2016. The resistance rate of MRSA and MRCNS strains were significantly higher than methicillin sensitive strains. The resistance rate of Enterococcus faecium strains was significant higher than Enterococcus faecalis. The prevalence of non-susceptible Streptococcus pneumoniae was 31.2%(908). No gram-positive strain was resistant to vancomycin or linezolid. The prevalence of carbapenem resistance increased in gram-negative strains. The resistance rate of Klebsiella pneumoniae to imipenem and meropenem rose from 3.1% and 4.8 % in 2011 to 28.7% and 37.4% in 2016, respectively.The rate of Pseudomonas aeruginosa resistance to imipenem and meropenem rose from 13.8% and 16.5% in 2011 to 18.8% and 19.4% in 2016, respectively, while Acinetobacter baumannii showed resistance rate of 38.3% and 39.9 % in 2011 to 68.4% and 69.7% in 2016. Conclusions Increasing prevalence of MRSA, carbapenem-resistant K. pneumoniae, extensively drug-resistant A.baumannii has become a concern in clinical practice. Therefore, antimicrobial resistance surveillance should be highly strengthened in children's hospital.
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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.
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Objective To explore the clinical features,auxiliary examinations,therapies and prognoses of patients with antibodies against contactin-associated protein-like 2 (CASPR2).Methods The clinical data of 11 anti-CASPR2 encephalitis patients who were admited to the People's Hospital of Zhengzhou University from March 2015 to April 2018 were retrospectively analyzed.Results The age of these 11 cases was (35.6± 19.4) years (ranged 20-74 years),and eight cases were females.There were seven cases with limbic encephalitis which included six cases of epilepsy,four cases of memory impairment,two cases of mental and behavioral abnormalities.Four cases had peripheral nerve hyperexcitability.Four cases had neuropathic pain.There were six cases with autonomic dysfunction including five cases of constipation,three cases of tachycardia,two cases of hyperhidrosis,two cases of urinary disorder.Seven cases had sleep disorder.Four cases had weight loss.Two cases showed cerebellar symptoms and two cases had hyponatremia.Magnetic resonance imaging scan of the brain showed abnormal signal in two cases,mainly involved medial temporal lobe and the hippocampus.Six cases underwent 18F-fluorodeoxyglucose positron emission tomography-computed tomography (PET-CT) examination,and three cases showed abnormalities,including two with temporal hypermetabolism and one with cortical hypermetabolism.Chest enhanced CT and PET-CT showed thymoma in one case.All cases received immunotherapy,and after treatment their symptoms were improved.Long-term follow-up was performed in nine cases,and three cases relapsed.Conclusions The major clinical manifestations of anti-CASPR2 encephalitis were limbic encephalitis,peripheral nerve hyperexcitability,neuropathic pain,autonomic dysfunction,insomnia and so on.Immunotherapy was effective and some patients may have recurrence.
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Objective To analyze the clinical data of a family with early?onset familial Alzheimer′s disease and to analyze the mutation of the pathogenic gene in the family. Methods The clinical data of a proband who was clinically diagnosed as early?onset Alzheimer′s disease in the Department of Neurology, People′s Hospital of Zhengzhou University in October 2018 and her family members were collected. Moreover, whole exome sequencing was performed on blood sample from the proband, then its deleterious effects were assessed according to the Standards and guidelines for the interpretation of sequence variants, a joint consensus recommendation of the American College of Medical Genomics. Subsequently, the strong pathogenic mutation was validated by Sanger sequencing in the some members of the family and 50 sporadic Alzheimer′s disease and 50 normal individuals of the family. Apolipoprotein E (APOE) typing of 10 family members was all epsilon 3/epsilon 3. Results The proband in this family showed decreased memory, visual space disorder, verbal repetition, personality change and abnormal mental behavior. The mutation at codon 717 of exon 17 of the proband amyloid precursor protein gene was detected by gene detection. The mutation at codon 717 of exon 17 of the proband beta?amyloid precursor protein gene was also found in the other five members of the family. The mutation was not found in 50 sporadic Alzheimer′s disease patients and 50 normal individuals outside the family. The proband′s head magnetic resonance imaging (MRI) showed bilateral hippocampal atrophy on plain scan, especially on the left side. No obvious abnormality was found in the head magnetic resonance angiography. The head MRI of the proband′s sister showed brain atrophy and bilateral hippocampal atrophy. Conclusions The study identified the pathogenic mutation of the beta?amyloid precursor protein gene p. V717I in six patients of a family with early?onset familial Alzheimer′s disease, and the mutation showed a phenomenon of family segregation. This finding is of great significance to the study of early?onset Alzheimer′s disease in Chinese population.
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Objective To evaluate the efficacy and safety of intense pulsed light (IPL) combined with hydroquinone cream for melasma treatment.Methods Thirty-five patients with melasma were treated between February 2015 and February 2017,20 patients treated with IPL combined with hydroquinone cream and 15 patients with IPL alone.All cases were female patients with Fitzpatrick skin types Ⅲ and Ⅳ,and subjected to 4 weeks treatment 1 time,5 times for a course of treatment.All patients were followed up for six months and the efficacy and safety of the treatment were analyzed comprehensively by subjective satisfaction and physician evaluation.Results All the patients were treated without discomfort and treated patients were effectively followed up.The satisfactory rate of IPL treatment group was 73.3%,and that of combined with hydroquinone cream group was 100%.Two groups of satisfactory rates were higher in IPL combined with hydroquinone cream.The total effective rate of the IPL treatment group was 53.3% compared with that of the 35 patients before and after treatment;in IPL combined with hydroquinone cream treatment group the total effective rate was 85.0%.IPL combined with hydroquinone cream treatment group was significantly more effective than the treatment group (P<0.05).All treatment patients did not present with tissue damage,pigmentation and other adverse reactions.Conclusions IPL combined with hydroquinone cream is a safe and effective treatment of melasma,and patients get a higher rate of satisfaction.
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Objective@#To analyze the clinical data of a family with early-onset familial Alzheimer′s disease and to analyze the mutation of the pathogenic gene in the family.@*Methods@#The clinical data of a proband who was clinically diagnosed as early-onset Alzheimer′s disease in the Department of Neurology, People′s Hospital of Zhengzhou University in October 2018 and her family members were collected. Moreover, whole exome sequencing was performed on blood sample from the proband, then its deleterious effects were assessed according to the Standards and guidelines for the interpretation of sequence variants, a joint consensus recommendation of the American College of Medical Genomics. Subsequently, the strong pathogenic mutation was validated by Sanger sequencing in the some members of the family and 50 sporadic Alzheimer′s disease and 50 normal individuals of the family. Apolipoprotein E (APOE) typing of 10 family members was all epsilon 3/epsilon 3.@*Results@#The proband in this family showed decreased memory, visual space disorder, verbal repetition, personality change and abnormal mental behavior. The mutation at codon 717 of exon 17 of the proband amyloid precursor protein gene was detected by gene detection. The mutation at codon 717 of exon 17 of the proband beta-amyloid precursor protein gene was also found in the other five members of the family. The mutation was not found in 50 sporadic Alzheimer′s disease patients and 50 normal individuals outside the family. The proband′s head magnetic resonance imaging (MRI) showed bilateral hippocampal atrophy on plain scan, especially on the left side. No obvious abnormality was found in the head magnetic resonance angiography. The head MRI of the proband′s sister showed brain atrophy and bilateral hippocampal atrophy.@*Conclusions@#The study identified the pathogenic mutation of the beta-amyloid precursor protein gene p.V717I in six patients of a family with early-onset familial Alzheimer′s disease, and the mutation showed a phenomenon of family segregation. This finding is of great significance to the study of early-onset Alzheimer′s disease in Chinese population.
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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.
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Objective To analyze the clinical and electrophysiological features in a family with spinal muscular atrophy (SMA), and assess the probable causative gene mutations for the family. Methods To identify the nosogenesis of the proband with weakness and atrophy in the double lower proximal limbs, clinical data of his 12 family members were collected, and the proband and his mother were selected for clinical examinations, including laboratory tests, electromyogram (EMG), F-wave, H-reflex, X-ray of the spine and double lower limbs, brain and spinal cord magnetic resonance imaging, etc. Moreover, human whole exome sequencing was performed on blood sample from the proband, then its deleterious effects were assessed according to the Standards and guidelines for the interpretation of sequence variants, a joint consensus recommendation of the American College of Medical Genomics (ACMG) and the Association for Molecular Pathology (AMP). Subsequently, the strong pathogenic mutation was validated by Sanger sequencing. Results Familial investigation showed seven of 12 family members presented with weakness in the double lower proximal limbs. Among them, three had the main manifestation of atrophy in the double lower proximal limbs, one had high arched foot as the main presentation, and the others had weakness in the double lower proximal limbs. EMG studies showed the abnormal results in the anterior horn of the spinal cord. The strong pathogenic mutation in DYNC1H1 gene (exon8, c.2327C>T, p.P776L) was identified from the proband according to ACMG and AMP guidelines. Sanger sequencing revealed six patients had this variant and it was passed mainly from his maternal grandmother. Conclusions A pathogenic mutation of the DYNC1H1 p.P776L in six Chinese pedigrees which cosegregated with SMA was identified. There existed individual differences in clinical presentations. This finding may have important implications for the study of SMA in Chinese patients.
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Objective To analyze the clinical characteristics,imaging manifestations and prognoses of anti-GABAB receptor antibodies encephalitis.Methods The clinical manifestations,laboratory findings and radiological data of 13 patients with anti-GABAB receptor encephalitis,admitted to our hospital from September 2015 to March 2017,were retrospectively analyzed.Modified Rankin scale (mRs) was performed to evaluate the prognoses (good prognosis:mRs scores < 2;poor prognosis mRs scores≥3).Results These 13 patients had an average age of 58 years (ranged 49-76 years) with a male to female ratio of 12:1.The major clinical features,including epileptic seizure,were found in 12 patients,psychiatric symptoms in 11 patients,cognitive disorder in 7 patients,and disturbance of consciousness in 4 patients.Brain MR imaging showed abnormal signal in 5 patients:4 were located in the hippocampus and amygdaloid,and one in the pons and left temporal lobe.Five patients showed abnormalities in PET-CT,including 4 with temporal hypermetabolism and 1 with cortical hypometabolism.Chest CT showed lung occupying lesions in 4 patients,of which 2 patients were diagnosed as having small cell lung cancer (SCLC) by pathological examination.Ten patients received immunomodulatory therapy,and three were with supportive care.After the average of 8 months of follow-up,7 patients had good prognosis,5 patients had poor prognosis and one patient lost of follow up.Conclusions Anti-GABAB receptor encephalitis frequently occurs in elderly male subjects and the main characteristic includes prominent refractory epilepsy and shows neurological improvement on immunotherapy.It can accompany by SCLC and have a relatively poor prognosis.
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BACKGROUND:Adipose-derived stem cel s (ADSCs) are a subset of mesenchymal stem cel s obtained from adipose tissue, which have paracrine functions, already becoming a focus in anti-aging researching. OBJECTIVE:To review the research progress and application outlook of ADSCs’ paracrine functions in facial anti-aging. METHODS:The first author searched the PubMed and CNKI databases using the keywords of“adipose-derived stem cel s, paracrine, anti-aging”in English and Chinese, respectively, to retrieve relevant articles published from January 2001 to May 2016. Repetitive articles or those with no originality were eliminated. Total y 176 articles were searched initial y, and 66 articles were included in result analysis. RESULTS AND CONCLUSION:ADSCs have paracrine function, which can secrete various growth factors (e.g., epidermal growth factor, transforming growth factorβ, platelet-derived growth factor, vascular endothelial growth factor, col agen and fibronectin) and inflammatory factors (e.g., interferon-γ, interleukin-lβ, interleukin-8, interleukin-9, interleukin-12, interleukin-15, interleukin-17 and tumor necrosis factor-α). These paracrine products of ADSCs have significant effects on anti-aging, such as inhibiting skin aging, whitening skin, assisting lipotransfer, promoting hair regeneration.
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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.
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Newer retinal imaging technologies help us in understanding the pathogenesis of many retinal pathologies,such as diabetic retinopathy,age related macular degeneration,glaucoma and uveitis.Early detection of these retinal diseases can prevent the onset of progressive vision loss,and aid in the development of new treatment options.Retinal functional imager (RFI) is an unique and noninvasive functional imaging system.Unlike most of the available newer retinal imaging tools,the RFI not only shows retinal structural changes,but can directly monitor functional changes and measure hemodynamic parameters,such as retinal bloodflow velocity,oximetric state,etc.This article reviews the utility progress of RFI in various retinal diseases.
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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.
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Objective To investigate the factors affecting the isolation of fastidious bacteria such as Streptococcus pneumoniae and Haemophilus influenzae from lower respiratory tract specimens in children.Methods A total of 210 lower respiratory tract specimens from children were collected and inoculated on both blood agar plate and chocolate agar plate 0.5 h,2 h,6 h,12 h,and 24 h after collection.The effect of specimen turnaround time,transport medium,and inoculation medium on the isolation of fastidious bacteria was studied.Results The results of 200 qualified specimens showed that the isolation of S.pneumoniae and H.influenzae significantly decreased with the increasing of specimen turnaround time (P<0.05),but no significant difference was observed between 0.5 h and 2 h timepoints.The isolation of fastidious bacteria in semi-solid medium was non-significantly higher than the other two transport medium (P>0.05).No significant difference was found in the isolation and growth ofS.pneumoniae and H.influenzae on different inoculation media (P>0.05).Conclusions The appropriate specimen turnaround time,transport medium,and inoculation medium are important for improving the isolation of fastidious bacteria from lower respiratory tract in children.