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1.
Chinese Journal of Nephrology ; (12): 121-129, 2021.
Article in Chinese | WPRIM | ID: wpr-885487

ABSTRACT

Objective:To investigate the level of trimethylamine N-oxide (TMAO), one of gut metabolites, in patients undergoing maintenance hemodialysis (MHD) accompanied by congestive heart failure (HF) and its influencing factors.Methods:Those patients of 18-75 years old who received three or more times of hemodialysis sessions per week for three months or longer during Nov 2018 and Mar 2019 were enrolled. Those attended health checkup at the same time without obvious kidney abnormality served as non-kidney disease controls. Serum TMAO concentrations were measured using high-performance liquid chromatography electrospray ionization-tandem mass spectrometry (HPLC-ESI-MS/MS). The levels of TMAO were compared between patients on hemodialysis and controls, between those with heart failure and without heart failure using logrithmically transformed TMAO (lnTMAO). Linear regression analysis was performed to investigate factors influencing TMAO levels.Results:A total of 195 patients undergoing MHD and 40 controls were enrolled. Among them, 30 hemodialysis cases (15.4%) manifested as heart failure symptoms and/or left ventricular ejection fraction less than 50%. Males accounted for 67.2% in patients on hemodialysis and 37.5% in controls ( χ2=12.426, P<0.001) respectively, while the median ages in both groups were 62.0(48.0, 71.0), 45.0(33.3, 55.0) years old respectively ( Z=5.685, P<0.001). TMAO concentrations were significantly higher in patients on hemodialysis than controls [5.54(3.84, 8.91) mg/L vs 0.17(0.11, 0.30) mg/L, after log transformed, t=21.687, P<0.001]. However, there was no statistically significant difference between those with heat failure and those without in male [63.3% vs 67.9%, χ2=0.238, P=0.626], age [64.5(56.8, 71.0) years old vs 61.0(47.0, 72.0) years old, Z=0.894, P=0.372] and TMAO [5.17(3.30, 9.46) mg/L vs 5.57(3.87, 8.95) mg/L, after log transformed, t=-1.537, P=0.135]. Multivariate linear regression analysis demonstrated that in all the participants, serum urea was the main risk factor for TMAO [standardized coefficient ( SB)=0.483]. lnTMAO=0.078×[serum urea(mmol/L)]+0.001×[serum creatinine (μmol/L)]-0.002×[serum uric acid (μmol/L)]-0.003×[platelet (×10 9/L)]+0.014×[age (years old)]+0.344 (if diabetic)-1.266. While in those undergoing MHD, ultrafiltration volume had the most significant effect on TMAO levels ( SB=0.279). lnTMAO=0.249×[ultrafiltration volume(L)]+0.059×[serum albumin (g/L)]+0.008×[age (years old)-0.526 (if heart failure existed)-1.865. Conclusions:MHD patients have gut dysbiosis, while those hemodialysis patients accompanied by heart failure may have peculiar gut microbiota which induces lower serum TMAO levels than those without heart failure after adjusting for multiple related factors. Serum TMAO levels may be associated with ultrafiltration volume and nutrition status etc.

2.
China Journal of Chinese Materia Medica ; (24): 4061-4068, 2021.
Article in Chinese | WPRIM | ID: wpr-888063

ABSTRACT

Reverse prediction and molecular docking techniques were employed to evaluate the feasibility of reniformin A(RA) as an anti-tumor leading compound. Based on the reverse prediction, network pharmacology was used to construct a "disease-compound-target-pathway" network. Thirty-nine tumor-related targets of RA were predicted, which participated in the regulation of multiple cellular activities such as apoptosis, cell cycle, and tumor metastasis, and regulated estrogen signal transduction and inflammatory response. Discovery Studio 2020 was adopted for molecular docking and toxicity prediction(TOPKAT). As revealed by the results, the binding affinity of RA with the tumor-related targets ABL1, ESR1, SRC and BCL-XL was stronger than that of oridonin(OD), while its mutagenicity, rodent carcinogenesis, and oral LD_(50) in rats were all inferior to that of OD. Furthermore, in vitro experiments were performed to confirm the anti-tumor activity of RA, and the mechanism was preliminarily discussed. The results demonstrated that RA was superior to OD in cytotoxicity, inhibition of cell colony formation, and induction of apoptosis. RA, possessing potent anti-tumor activity, is expected to be a new anti-tumor leading compound.


Subject(s)
Animals , Rats , Drugs, Chinese Herbal/pharmacology , Lead , Molecular Docking Simulation , Neoplasms/genetics , Signal Transduction
3.
Chinese Journal of Medical Education Research ; (12): 233-236, 2021.
Article in Chinese | WPRIM | ID: wpr-883591

ABSTRACT

This study explores the construction and application of online platform for medical continuing education based on libraries and academic conferences. With the consent of the experts participating in the conference, the contents of the conferences are recorded and made into learning videos for continuing education. By constructing network servers, cloud services, and other platforms, the online continuing education can be realized, and such procedures as giving credits also can be completed. And combined with other professional continuing education platforms, a complete continuing education system can be constructed. We have initially designed out the construction mode of medical continuing education platform. The construction of medical continuing education platform has enhanced the class or position of the symposium organization institutions, facilitated the continuing education of professionals and technical personnel, with good social and economic effects, which is worthy of promotion.

4.
Acta Pharmaceutica Sinica ; (12): 611-619, 2019.
Article in Chinese | WPRIM | ID: wpr-780159

ABSTRACT

Adaptation to hypoxia of the plateau environment has been a focus of scientific research in decades. The geographical distributions of such living environment include the Qinghai-Tibet Plateau, Andean Plateau in South America and Ethiopian Plateau. Over the past century, the unique features of physiological adaptation to high-altitude chronic hypoxia have been documented scientifically. The genetic studies of hypoxic adaptation in the past decade have revealed genetic bases of human high-altitude adaptation, with a close relationship to the hypoxia inducible factor (HIF) pathway and hypoxia response elements (HREs). Interestingly, the genetic pattern of adaptation to hypoxia is not the same among the three plateau populations. Tibetan has developed the best high-altitude adaptation, with modification of the HIF pathway as the key genetic element. Due to the wide range of HIF pathways, HIFs could regulate hundreds of downstream genes and are closely related to various diseases such as cancer, inflammation, ischemia, acute organ damage and infection, etc. The treatment researches of these diseases through HIFs-related regulations have led to the development of stabilizers and inhibitors of HIF pathway. We review here the adaptive responses of the three plateau populations to the hypoxic environment, and the genetic mechanism of HIF and HREs in the different ethnic high-altitude populations. Classes of HIF inhibitors, such as PI3K and/or mammalian target of rapamycin (mTOR) inhibitors, DNA-binding inhibitors, histone deacetylase inhibitors, heat-shock protein 90 inhibitors, cardiac glycosides, transcription inhibitors, topoisomerase inhibitors, and HIF activators including 2-OG mimics, Fe2+ chelators, prolyl hydroxylase (PHD) active-site blockers and CUL2 deneddylators have been presented with the drug examples. In addition, the top 3 chemical-disease and chemical-gene (protein) co-occurrences have been presented from the Pubmed literature search. The review could serve as references for research of hypoxia adaptation and HIF-related diseases.

5.
Journal of Jilin University(Medicine Edition) ; (6): 1030-1035, 2018.
Article in Chinese | WPRIM | ID: wpr-841857

ABSTRACT

Objective: To investigate the efficacies of pulsed continuous cardiac output (PICCO) and central venous pressure (CVP) monitoring in the treatment of the patients with sepsis shock complicated with cardiac insufficiency, and to clarify the clinical significance of PICCO and CVP monitoring. Methods: A total of 137 cases of septic shock combined with cardiac insufficiency patients were randomly divided into CVP group (n= 68) and PICCO group (n= 69). The patients in CVP group were treated with CVP monitoring to guide therapy, and the patients in PICCO group were treated with PICCO monitoring to guide therapy. The levels of lactic acid and B brain natriuretic peptide (BNP), central venous oxygen saturation (ScvO2), heart rate (HR), mean arterial pressure (MAP) and CVP of the patients in two groups were detected before treatment and 6, 24, 48 h after treatment, respectively; the hemodynamic parameters of the patients of PICCO group were recorded; the vasoactive drug use time, the ICU hospitalization time, the incidence rates of multiple organ dysfunction syndrome (MODS), the mechanical ventilation time and the 28 d-mortality rates of the patients were recorded. Results: Compared with CVP group, the levels lactic acid and BNP and HR of the patients in PICCO group at 6, 24, and 48 h after treatment were significantly decreased (P0. 05). There were no significant differences in the incidence rates of MODS and 28 d-mortality rates between two groups (P>0. 05); however the use time of vasoactive drugs, the ICU hospitalization time and the mechanical ventilation time of the patients in PICCO group were significantly shorter than those in CVP group (P< 0. 05). Conclusion; PICCO monitoring guides the treatment of septic shock complicated with cardiac insufficiency better than CVP monitoring, and has positive clinical significance.

6.
Chinese Journal of Medical Education Research ; (12): 210-213, 2018.
Article in Chinese | WPRIM | ID: wpr-700494

ABSTRACT

Clinical teaching is the critical stage for medical students turning to qualified doctor.In order to overcome the objective problems of insufficient clinical case resources,using the electronic medical record system to collect cases,the real case library of kidney disease was initially constructed,which was presented in the form of network resources.This case database was applied to assist teaching in the probation of eight year medical students at the undergraduate stage,and the application of the case database was evaluated in the form of questionnaire.It is found that case database is helpful to students' clinical learning,and has the necessity of further improvement and good prospects for popularization.It provides a new idea for clinical teaching.

7.
Chinese Journal of Nephrology ; (12): 2-9, 2018.
Article in Chinese | WPRIM | ID: wpr-711081

ABSTRACT

Objectives To investigate whether the presence of metabolic syndrome (MS) modifies overall survival and cardiovascular (CV) outcomes among patients undergoing long-term peritoneal dialysis (PD) and to explore suitable diagnostic criterion for PD patients.Methods A total of 258 patients on PD in Peking University Third Hospital between October 2008 and March 2009 were enrolled and followed until June 2017.According to the diagnostic criteria of WHO,IDF and ATP Ⅲ,the patients were divided into MS group and non-MS group.The median following time was 51.9 (26.8,97.9) months.Overall survival and cardiovascular death were analyzed by the Kaplan-Meier method.The analyses were also done among non-diabetic PD patients.The influence of MS and its components on outcomes was analyzed by Cox regression models.Results Among 258 PD patients,106(41.1%) fulfilled the WHO criteria,121(46.9%) the IDF criteria,and 167(64.7%) the ATP criteria.139 cases were dead,among which 50(36.0%) cases were caused by CV diseases.The patients with MS had worse outcomes than those without MS by WHO and IDF criteria (cumulative survival rates of WHO criteria:21.3% vs 44.8%,P < 0.01;cumulative surviva rats of IDF criteria:23.3% vs 45.7%,P < 0.01).It was the same even in non-diabetic PD patients.The patients with MS had more CV death than those without MS by WHO and IDF criteria (both P < 0.05).Among non-diabetic PD patients,the results remained the same only by IDF criteria (P < 0.05).By ATP criteria,above analyses showed no difference.By multivariate Cox regression analysis,MS and serum albumin (all P < 0.01) were independently associated with increased risk for overall and cardiovascular survival.Among MS components,waist girth,low-density lipoprotein cholesterol (LDL-C) levels and blood sugar (all P < 0.01) were significant risk factors for adverse survival outcomes.Conclusions In patients undergoing PD,both overall survival and cardiovascular survival were worse in patients with MS than those without MS.Waist girth,blood sugar and serum LDL-C were the main risk factors.For PD patients the IDF criterion for MS was recommended.

8.
Shanghai Journal of Acupuncture and Moxibustion ; (12): 1344-1347, 2017.
Article in Chinese | WPRIM | ID: wpr-695840

ABSTRACT

Objective To observe the clinical efficacy of acupuncture of She Medicine in treating acute lumbar sprain.Method Eighty patients with acute lumbar sprain were randomized into a treatment group and a control group,40 cases each.The treatment group was intervened by acupuncture of She medicine,while the control group received conventional medication.After successive 3-day treatment,the changes in Visual Analogue Scale (VAS) and Modified-Modified Schober (MMS) scores were observed,and the clinical efficacies were compared between the two groups.Result After the intervention,the VAS and MMS scores were significant changed in both groups (P<0.01).The VAS and MMS scores of the treatment group were significantly different from those of the control group after the intervention (P<0.01).The total effective rate and recovery rate were respectively 92.5% and 70.0% in the treatment group,versus 77.5% and 40.0% in the control group,and the between-group differences were statistically significant (P<0.01).Conclusion Acupuncture of She medicine is effective in treating acute lumbar sprain,with advantages of swift action in releasing symptoms and high recovery rate.

9.
Chinese Journal of Contemporary Pediatrics ; (12): 1083-1086, 2017.
Article in Chinese | WPRIM | ID: wpr-300444

ABSTRACT

A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.


Subject(s)
Child, Preschool , Humans , Male , Chromosome Deletion , DNA Copy Number Variations , Intellectual Disability , Genetics , Mediator Complex , Genetics , Phenotype , Polymorphism, Single Nucleotide , Syndrome
10.
Chinese Journal of Medical Library and Information Science ; (12): 70-72, 2016.
Article in Chinese | WPRIM | ID: wpr-495077

ABSTRACT

Developing and sharing medical information resources in big data environment play an important role in joint developing and sharing medical information resources in our country.The economic benefits of developing and sharing medical information resources in big data environment were thus elaborated in aspects of their products and service according to their beneficial theory for their rational location.

11.
Chinese Journal of Contemporary Pediatrics ; (12): 560-564, 2015.
Article in Chinese | WPRIM | ID: wpr-346106

ABSTRACT

<p><b>OBJECTIVE</b>To study the association between two single nucleotide polymorphisms (SNP), rs2295080 and rs2536, in mammalian target of rapamycin (mTOR) gene and the susceptibility to pediatric epilepsy.</p><p><b>METHODS</b>A case- control study was performed on 480 children with epilepsy (116 cases of refractory epilepsy) and 503 healthy children. SNP rs2295080 and rs2536 in the mTOR gene were detected by polymerase chain reaction restriction and fragment length polymorphisms (PCR-RFLP). Genotype and allele frequencies of SNP rs2295080 and rs2536 were compared between the children with epilepsy and healthy controls.</p><p><b>RESULTS</b>There were no significant differences in the genotype and allele frequencies of SNP rs2295080 between the children with epilepsy and healthy controls. There were no significant differences in the genotype frequencies of SNP rs2536 between the two groups either, but the frequency of G allele of SNP rs2536 was higher in children with epilepsy than that in healthy controls (P=0.042, OR=1.344, 95%CI: 1.010-1.789).</p><p><b>CONCLUSIONS</b>SNP rs2536 of mTOR gene may be associated with the risk of pediatric epilepsy.</p>


Subject(s)
Humans , Epilepsy , Genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Polymorphism, Single Nucleotide , Risk , TOR Serine-Threonine Kinases , Genetics
12.
China Journal of Chinese Materia Medica ; (24): 1543-1547, 2015.
Article in Chinese | WPRIM | ID: wpr-351311

ABSTRACT

This research established an HPLC method for determination of six C-Glycoside flavones of warer-soluble total flavonoids from Isodon lophanthoides var. gerardianus (Benth.) H. Hara, and studied the antitumor activity of the warer-soluble total flavonoids. The HPLC system consisted of Kromasil 100-5 C18 (4.6 mm x 250 mm, 5 microm) column and a solution system of methanol, acetonitrile and 0.5% formic acid gradient elution at a flow rate of 0. 8 mL x min(-1) and the wavelength of detector was at 334 nm. The column temperature was 25 degrees C. The antitumor activity of water-soluble flavonoids was assayed using HepG2 cell as the tested cell. The linear ranges of vicenin II, vicenin III, isoschaftoside, schaftoside, vitexin, 6, 8-di-C-a-L-arabinosylapigenin were 0.25-2.53, 0.12-1.20, 0.37-3.69, 0.16-1.63, 0.19-1.92, 0.14-1.42 microg, respectively. The average recoveries (n = 6) were 99.6% (RSD 0.87%), 100.2% (RSD 2.0%), 99.6% (RSD 1.8%), 97.9% (RSD 1.5%), 98.8% (RSD 1.2%), 98.6% (RSD 1.2%), respectively. After exposure in 24, 48, 72 h, the total flavonoids showed inhibitory effect on the proliferation of HepG2 cells with IC50 as the evaluation index, the IC50 values of 1.89, 1.71, 1.51 g x L(-1), respectively. The method is quick, simple and accurate with good re- producibility, and can be used for determination of vicenin II, vicenin III, isoschaftoside, schaftoside, vitexin, 6, 8-di-C-a-L-arabino- sylapigenin in the warer-soluble total flavonoids from L lophanthoides var. gerardianus. The warer-soluble total flavonoids from L lophanthoides have inhibitory effect on the proliferation of HepG2 cells.


Subject(s)
Humans , Antineoplastic Agents, Phytogenic , Pharmacology , Cell Line, Tumor , Cell Proliferation , Chromatography, High Pressure Liquid , Drugs, Chinese Herbal , Pharmacology , Flavones , Pharmacology , Isodon , Chemistry , Monosaccharides , Pharmacology
13.
Chinese Journal of Medical Library and Information Science ; (12): 43-45, 2015.
Article in Chinese | WPRIM | ID: wpr-479235

ABSTRACT

Big data can provide effective data support for clinical research, biomedical technology progress, and individualized treatment of patients.However, medical ethics and data privacy must be considered due to the poor relation between patients and medical workers .The advantages and disadvantages of big data in medical practice were thus analyzed with certain strategies proposed for their development and privacy protection , and for the balance between the benefits and risks of technological innovations .

14.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 146-150, 2014.
Article in English | WPRIM | ID: wpr-351107

ABSTRACT

Previous studies have demonstrated a strong association between carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and HLA-B*1502 in Han Chinese. Here, we extended the study of HLA-B*1502 susceptibility to two different antiepileptic drugs, oxcarbazepine (OXC) and phenobarbital (PB). In addition, we genotyped HLA-B*1511 in a case of CBZ-induced SJS with genotype negative for HLA-B*1502. The presence of HLA-B*1502 was determined using polymerase chain reaction with sequence-specific primers (PCR-SSP). Moreover, we genotyped HLA-B*1502 in 17 cases of antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs), in comparison with AEDs-tolerant (n=32) and normal controls (n=38) in the central region of China. The data showed that HLA-B*1502 was positive in 5 of 6 cases of AEDs-induced SJS (4 CBZ, 1 OXC and 1 PB), which was significantly more frequent than AEDs-tolerant (2/32, 18 CBZ, 6 PB and 8 OXC) and normal controls (3/38). Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B*1502 with AEDs-induced SJS was 6.25 (95% CI: 1.06-36.74) and 4.86 (95% CI: 1.01-23.47). The sensitivity and specificity of HLA-B*1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B*1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B*1502 was not found in 11 children with maculopapular exanthema (MPE) (n=9) and hypersensitivity syndrome (HSS) (n=2). However, we also found one case of CBZ-induced SJS who was negative for HLA-B*1502 but carried HLA-B*1511. It was suggested that the association between the CBZ-induced SJS and HLA-B*1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B*1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B*1502.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Alleles , Anticonvulsants , Asian People , Genetics , Carbamazepine , China , Genetic Predisposition to Disease , Ethnology , Genetics , Genotype , HLA-B15 Antigen , Genetics , Phenobarbital , Polymerase Chain Reaction , Stevens-Johnson Syndrome , Ethnology , Genetics
15.
Chinese Traditional and Herbal Drugs ; (24): 3351-3355, 2014.
Article in Chinese | WPRIM | ID: wpr-854972

ABSTRACT

This paper mainly introduced the resource situation including contents and methods of resource protection about rare and endangered characteristic medicinal species in Chinese She nationality. In the meanwhile, authors had summarized and analyzed the kinds and distribution, medicinal value, and present situation of resources protection about the medicinal species which are rare and endangered, characteristic, sharply reduced, and relative scarce. Then, the resources information and corresponding countermeasures and suggestions were provided in the view of the existing problems.

16.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 146-50, 2014.
Article in English | WPRIM | ID: wpr-636526

ABSTRACT

Previous studies have demonstrated a strong association between carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and HLA-B*1502 in Han Chinese. Here, we extended the study of HLA-B*1502 susceptibility to two different antiepileptic drugs, oxcarbazepine (OXC) and phenobabital (PB). In addition, we genotyped HLA-B*1511 in a case of CBZ-induced SJS with genotype negative for HLA-B*1502. The presence of HLA-B*1502 was determined using polymerase chain reaction with sequence-specific primers (PCR-SSP). Moreover, we genotyped HLA-B*1502 in 17 cases of antiepileptic drugs (AEDs)-induced cutaneous adverse drug reactions (cADRs), in comparison with AEDs-tolerant (n=32) and normal controls (n=38) in the central region of China. The data showed that HLA-B*1502 was positive in 5 of 6 cases of AEDs-induced SJS (4 CBZ, 1 OXC and 1 PB), which was significantly more frequent than AEDs-tolerant (2/32, 18 CBZ, 6 PB and 8 OXC) and normal controls (3/38). Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B*1502 with AEDs-induced SJS was 6.25 (95% CI: 1.06-36.74) and 4.86 (95% CI: 1.01-23.47). The sensitivity and specificity of HLA-B*1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B*1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B*1502 was not found in 11 children with maculopapular exanthema (MPE) (n=9) and hypersensitivity syndrome (HSS) (n=2). However, we also found one case of CBZ-induced SJS who was negative for HLA-B*1502 but carried HLA-B*1511. It was suggested that the association between the CBZ-induced SJS and HLA-B*1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B*1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B*1502.

17.
Chinese Journal of Contemporary Pediatrics ; (12): 393-396, 2014.
Article in Chinese | WPRIM | ID: wpr-269465

ABSTRACT

<p><b>OBJECTIVE</b>To study the clinical features and mutations in methyl-CpG-binding protein 2 (MECP2) gene among children with classical Rett syndrome in China.</p><p><b>METHODS</b>PCR and direct sequencing were employed to analyze the three exons of MECP2 gene in 9 children recently diagnosed with Rett syndrome and their parents.</p><p><b>RESULTS</b>Heterozygous mutations were identified in 5 out of 9 patients, with a mutation rate of over 50%; there was one case of insert mutation (c.913insT) and 4 cases of missense mutation (exon 3: c.316C>T (R106W); exon 4: c.502C>T (R168X), c.808C>T (R270X), and c.1126C>T (P376S). A new mutation (c.913insT) was found. No mutations were detected in their parents. Two patients had MECP2 mutations in the transcriptional repression domain (TRD). They had almost lost language functions and were found to have significantly delayed development compared with other patients.</p><p><b>CONCLUSIONS</b>Mutations in MECP2 gene were detected in 5 confirmed cases of Rett syndrome, and most of them were on exon 4. Mutations in the TRD of MECP2 protein may affect the language ability and development in children with Rett syndrome.</p>


Subject(s)
Child, Preschool , Female , Humans , Infant , Language Development , Methyl-CpG-Binding Protein 2 , Genetics , Mutation , Rett Syndrome , Genetics , Psychology
18.
Chinese Journal of Epidemiology ; (12): 728-731, 2013.
Article in Chinese | WPRIM | ID: wpr-320994

ABSTRACT

<p><b>OBJECTIVE</b>To introduce the Item Function Analysis(IFA) of Quality of Life- Alzheimer's disease(QOL-AD)Chinese version and to explore the feasibility of its application on Chinese patients with AD.</p><p><b>METHODS</b>Two hundred AD patients were interviewed and assessed by QOL-AD, through the stratified cluster sampling method. Multilog 7.03. was used for Item Function Analysis. Difference scale(a), difficulty scale(b)and Item Characteristic Curve(ICC) of each item of QOL-AD were provided.</p><p><b>RESULTS</b>Different scales of the item 1, 7 were below 0.6, while all the others were above 0.6. As for ICC. The first and last lines for the other items were monotonic in which the two in between were in inverted V-shape, with very steep slopes, except for the item 1 and 7.</p><p><b>CONCLUSION</b>Results form the IFA showed that QOL-AD was applicable to be used in the Chinese patients with AD.</p>


Subject(s)
Aged , Aged, 80 and over , Humans , Alzheimer Disease , Psychology , Asian People , Genetics , Psychometrics , Methods , Quality of Life
19.
Korean Journal of Radiology ; : 869-873, 2013.
Article in English | WPRIM | ID: wpr-219666

ABSTRACT

Breast capillary hemangioma is a type of benign vascular tumor which is rarely seen. Little is known about its presentation on dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI). Here, we describe a case of suspicious breast lesion detected by DCE-MRI and pathologically confirmed as capillary hemangioma. Our case indicates that a small mass with a superficial location, clear boundary, and homogeneous enhancement on DCE-MRI indicates the possible diagnosis of hemangioma, whereby even the lesion presents a washout type curve.


Subject(s)
Adult , Female , Humans , Biopsy , Breast Neoplasms/diagnosis , Contrast Media , Diagnosis, Differential , Hemangioma, Capillary/diagnosis , Magnetic Resonance Imaging/methods
20.
Chinese Journal of Epidemiology ; (12): 606-609, 2012.
Article in Chinese | WPRIM | ID: wpr-288119

ABSTRACT

Objective To investigate the current status and influencing factors regarding quality of life among patients with Alzheimer' s disease (AD).Methods Through stratified cluster sampling method,two hundred patients with AD and their caregivers were chosen and interviewed.AD patients were assessed by questionnaires,Montreal Cognitive Assessment,and Quality of LifeAlzheimer' s Disease (QOL-AD),in order to compare the reports from patients and caregivers on QOL-AD and to analyze related influencing factors.Descriptive analysis,paired t-test,analysis of variance (ANOVA),Pearson' s correlation and multiple linear regression were performed using the Statistical Package for Social Science (SPSS).Results The scores of reports from patients (28.78 ±4.30) were lower than that from the caregivers' (30.05 ± 6.05).The difference was statistically significant (t=2.122,P<0.05) and was positively correlated (r=0.312,P<0.001).Data from multivariate analysis showed that cognitive level (t=3.465,P=0.001),marriage relationship (t=3.062,P=0.003 ),having public activities (t =2.581,P=0.011 ),personal characters (t =2.254,P =0.026),restricted diet pattern (t=3.614,P<0.001),regularly drinking tea (t=2.652,P=0.009) and doing housework (t=3.180,P=0.002) were predictive factors.Conclusion Scores from the caregiver' s report on QOL-AD were higher than that from the patients'.Many factors influenced the quality of life on AD patients.Strategies on improving the quality of life among AD patients can be developed based on the findings of this study.

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