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1.
Article in Chinese | WPRIM | ID: wpr-879557

ABSTRACT

OBJECTIVE@#To investigate the clinical phenotype and genetic characteristics of a patient with hypohidrotic ectodermal dysplasia (HED) due to partial deletion of EDA gene.@*METHODS@#The child has presented with HED complicated with epilepsy. Family trio whole exome sequencing (Trio-WES), copy number variation sequencing (CNV-seq), and karyotype analysis were carried out to explore the underlying genetic etiology.@*RESULTS@#The proband, a 7-year-and-8-month-old boy, presented with thin curly hair, thin and sparse eyebrow, xerosis cutis, susceptibility to hyperthermia from childhood, hypohidrosis, sharp/sparse/absent teeth, saddle nose, prominent forehead, auricle adulation and seizure. He was found to have a normal chromosomal karyotype, and no abnormality was found by Trio-WES. Genome-wide CNV-seq revealed a 341.90 kb deletion at Xq13.1q13.1 (chrX: 68 796 566-69 138 468). As verified by PCR-electrophoresis, the deletion has removed part of the EDA gene. The deletion was derived from his mother with normal hair, mild xerosis cutis, and sparse, decidulated and nail-like teeth. The mother was detected with a heterozygous 242.10 kb deletion at Xq13.1q13.1 (chrX: 68 836 154-69 078 250).@*CONCLUSION@#Both the proband and his mother have carried a Xq13.1 microdeletion involving part of the EDA gene. The clinical phenotypes of the mother and the proband were consistent with the clinical characteristics of X-linked recessive HED, for which partial deletion of the EDA gene is probably accountable.


Subject(s)
Child , DNA Copy Number Variations , Ectodermal Dysplasia , Ectodermal Dysplasia 1, Anhidrotic/genetics , Ectodysplasins/genetics , Humans , Male , Phenotype
2.
Article in Chinese | WPRIM | ID: wpr-879167

ABSTRACT

Rubi Fructus is a commonly used traditional Chinese medicine. The origin of Rubi Fructus is the dried fruit of Rubus chingii, a plant of the family Rosaceae, according to the 2015 edition of Chinese pharmacopoeia. There are some differences in the plant origin of Rubi Fructus in ancient herbal literature, to trace back its sources, we conducted a textual research on its origin, producing areas, quality evaluation, processing and concocting, properties, tastes and efficacy etc. based on the records of ancient herbal literatures and combined with plant morphology and related investigation. RESULTS:: showed that the variety of Rubi Fructus was more complex among ancient herbal literature, including R. coreanus, R. hirsutus, R. corchorifolius, R. foliolosus and other mixed varieties. Most scholars believe that the R. chingii has not been recorded in ancient herbal literature, while R. chingii was recorded as early as the Ming Dynasty in Compendium of materia medica through our textual research. Ancient Chinese herbs recorded that Rubi Fructus was mostly produced in Hubei, Shandong, Shanxi and Jiangsu provinces, while R. chingii mainly produced in Anhui, Jiangsu, Zhejiang, Jiangxi, Fujian and other provinces nowadays. Also, it was recorded that Rubi Fructus harvested in wheat field during May were the best. Besides, R. chingii with big, full, grain integrate, firm, yellow and green color, sour taste and impurity free possess the best quality in the contemporary. The ancient records of processing and concocting, properties, tastes and efficacy were basically the same as modern ones.These results provide the basis for the correct utilization and further development of Rubi Fructus.


Subject(s)
China , Drugs, Chinese Herbal , Fruit , Humans , Materia Medica , Medicine, Chinese Traditional , Rubus
3.
Article in Chinese | WPRIM | ID: wpr-879115

ABSTRACT

Aspalathus linearis is a needle-shaped shrub that grows in the Cedarberg mountains in southern South Africa, with an extremely high medicinal value. In 2014, China has approved A. linearis as a new food material. Through retrieval in CNKI, Wanfang, VIP, Web of Science, PubMed and Scopus databases, the literatures were excluded, classified and summarized.On the basis of Chinese medicine theory, the traditional Chinese medicine properties were deducted. Finally, 264 relevant li-teratures were included and classified into 6 categories: review, planting, chemical composition, clinical study, pharmacological effects and safety. The traditional Chinese medicinal properties were deducted as sweet flavor and neutral property. It enters kidney, spleen, heart and liver channels. The major functions are to tonify the kidney and benefit the essence, nourish Qi and spleen, nourish Yin and prompt the production of body fluid, tranquilize mind, and relieve pain. It can be used for soreness of the waist and fatigue, sexual disinterest, limbs heaviness, thirst due to insufficiency of fluid and internal heat, irritability and insomnia, forget fulness, stomachache, joint pain, dysmenorrhea, headache. Preparation for external use can treat eczema itching. Water decoction(2-15 g) can also be used as tea directly. This paper defined the traditional Chinese medicine properties of A. linearis, so as to provide the theoretical basis for further clinical application.


Subject(s)
Aspalathus , China , Drugs, Chinese Herbal , Female , Medicine, Chinese Traditional
4.
Article in Chinese | WPRIM | ID: wpr-879114

ABSTRACT

Kaempferiae Parviflorae Rhizoma is the dried rhizome of Kaempferia parviflora in Zingiberaceae. It is originated and widely distributed in Thailand and other tropical and subtropical regions, where it has been used as food and medicine for thousands of years. K. parviflora is also planted in Yunnan and other places of China, but its traditional Chinese medicine properties are not clear, which greatly limits its compatibility with traditional Chinese medicines. In this article, the English and Chinese literatures of K. parviflora were searched from Web of Science, PubMed, Scopus, CNKI, Wanfang, and VIP databases for research and analysis. The medicinal properties of K. parviflora were preliminarily discussed based on the theory of traditional Chinese medicine under the guidance of clinical application and research literatures. The traditional Chinese medicine properties of K. parviflora were inferred as follows: flat, acrid, sweet. The channel tropisms of K. parviflora included kidney, spleen, stomach, and liver. The function of K. parviflora included tonifying kidney to strengthen essence, tonifying Qi and invigorating spleen, soothing liver and relieving depression. K. parviflora was clinically applied for the diseases such as syndrome of kidney essence deficiency, sex apathy, deficiency of spleen Qi, lassitude and asthenia, a weary spirit, obesity, diabetes, liver Qi stagnation, depression, and restless. The equivalent of dry power is 1.5 g·d~(-1) and the equivalent of decoction is 1.5-6 g·d~(-1). The determination of traditional Chinese medicine properties of K. parviflora has indeed laid a theoretical foundation for its application in the field of traditional Chinese medicine and enriched traditional Chinese medicine resources.


Subject(s)
China , Drugs, Chinese Herbal , Medicine, Chinese Traditional , Rhizome , Thailand , Zingiberaceae
5.
Article in Chinese | WPRIM | ID: wpr-879113

ABSTRACT

Based on the research literatures of Passiflora incarnata and the theory of traditional Chinese medicine, the paper discussed the traditional Chinese medicinal properties of P. incarnate, so as to provide a theoretical basis for the compatibility and application of P. incarnata. The literature databases of CNKI, Wanfang, VIP, Web of Science, PubMed and Scopus were selected, and the literatures relating to P. incarnata were reviewed to screen out the scientific research literatures with a high credibility, rational design and reliable conclusions. Foreign pharmacopoeia was consulted, and the listed products were summarized. The traditional Chinese medicine properties of P. incarnata were studied based on 32 clinical trials, 66 pharmacological researches, 64 chemical constituents researches as well as the theory of traditional Chinese medicine. It was preliminarily concluded that the medicinal properties of P. incarnata are sweet, cool, and enter heart, liver channels. The function is mainly to calm the heart and tranquilizing the mind, and calm the liver wind. It is used for hyperactivity of liver-Yang, stagnation of liver-Qi, restlessness of mind, depression, nervousness, insomnia. This paper summarized the source, characteristics of natures, tastes and channel tropism, usage and dosage, function indications of P. incarnata, and defined its clear traditional Chinese medicine property, which lays a theoretical foundation for the compatibility and clinical application of P. incarnata and Chinese medicine.


Subject(s)
Anti-Anxiety Agents , Anxiety , Drugs, Chinese Herbal , Humans , Medicine, Chinese Traditional , Passiflora , Sleep Initiation and Maintenance Disorders/drug therapy
6.
Article in Chinese | WPRIM | ID: wpr-879112

ABSTRACT

Myrtus communis is a traditional medicinal aromatic plant in the Mediterranean. At present, the plant has been introduced and cultivated in the southern part of China, and it is mostly used for ornamental or cosmetic purposes. Based on literature analysis and the theory of Chinese medicine, we discussed the medicinal parts and properties of M. communis in this paper to provide a theoretical basis for exploring the medicinal value of M. communis and its compatibility with traditional Chinese medicines. Literatures were searched from Web of Science(core collection), PubMed, CNKI, VIP and Wanfang by using the set conditions as key words. Then the obtained literatures were screened and classified. Finally, a total of 376 articles were included, consisting of 44 reviews, 54 germplasm resources, 78 chemical researches, 48 studies on application, extraction, or quality, 18 human trials, 132 pharmacological studies, and 2 safety studies. Based on literature analysis and theories of Chinese medicine, the leaves of M. communis were finally selected as the medicinal part of Chinese medicine, and the traditional Chinese medicine properties of M. communis leaves were deduced as pungent, bitter, and cool. The channel tropisms of M. communis leaves included lung, liver, and large intestine, with functions of detoxifying, resolving a mass, and insecticide. It was used for mouth sores, vaginal itching, hemorrhoids and warts, etc.; appropriate amount shall be applied for external use, and the decoction form shall be used for washing the affected parts; 3-12 g equivalent product shall be used in decoction, and this herb shall be put into the decoction in a later stage. The clarification of the medicinal parts of M. communis, and the determination of the Chinese medicine properties of M. communis leaves would lay a theoretical foundation for its compatibility and application with Chinese medicines, and can do more contribution to the medical and healthcare industry in our country.


Subject(s)
China , Drugs, Chinese Herbal , Humans , Medicine, Chinese Traditional , Myrtus , Plant Leaves , Plants, Medicinal
7.
Article in Chinese | WPRIM | ID: wpr-878985

ABSTRACT

Two phloroglucinol compounds(1-2) were isolated and purified from 95% ethanol extract of Dryopteris fragrans through various column chromatographies on silica gel, Sephadex LH-20, medium pressure column chromatography, and preparative HPLC. Their structures were elucidated as 2',4',6'-trihydroxy-5'-methyl acetate-3'-methyl-1'-butyrophenone(1) and aspidinol B(2) based on their chemical and physicochemical methods and spectroscopic data. Compound 1 is a new phloroglucinol compound named "dryofraginol".


Subject(s)
Chromatography, High Pressure Liquid , Dryopteris , Ethanol , Phloroglucinol , Plant Extracts
8.
Article in Chinese | WPRIM | ID: wpr-878980

ABSTRACT

Artemisiae Annuae Herba is a traditional Chinese medicine for clearing deficiency and heat. It is the only natural source of artemisinin, which is a specific antimalarial drug, and has been widely concerned all over the world. In addition to artemisinin, Artemisiae Annuae Herba also contains many sesquiterpenes, coumarins, flavonoids, volatile oils, polysaccharides and other chemical components, which show antipyretic, anti-inflammatory, antiviral microorganisms, anti-asthma, anti-oxidation, anti-tumor and other pharmacological activities. In addition to their own pharmacological activities, some components could enhance the antimalarial activity of artemisinin through different mechanisms at absorption and metabolism in vivo. In order to understand the pharmacokinetic characte-ristics of the chemical constituents contained in Artemisiae Annuae Herba and provide reference for the full development and clinical utilization of Artemisiae Annuae Herba resources in China, this present paper systematically collated the modern research literatures, and summarized the biosynthesis, in vivo analysis and pharmacokinetics of the chemical constituents in Artemisiae Annuae Herba.


Subject(s)
Antimalarials , China , Drugs, Chinese Herbal , Medicine, Chinese Traditional , Oils, Volatile
9.
Article in English | WPRIM | ID: wpr-878333

ABSTRACT

Objective@#This study aims to investigate the correlation of an ultrasonic scoring system with intraoperative blood loss (IBL) in placenta accreta spectrum (PAS) disorders.@*Methods@#A retrospective cohort study was conducted between January 2015 and November 2019. Clinical data for patients with PAS have been obtained from medical records. Generalized additive models were used to explore the nonlinear relationships between ultrasonic scores and IBL. Logistic regressions were used to determine the differences in the risk of IBL ≥ 1,500 mL among groups with different ultrasonic scores.@*Results@#A total of 332 patients participated in the analysis. Generalized additive models showed a significant positive correlation between score and blood loss. The amount of IBL was increased due to the rise in the ultrasonic score. All cases were divided into three groups according to the scores (low score group: ≤ 6 points, @*Conclusions@#The risk of blood loss equal to or greater than 1,500 mL increases further when ultrasonic score greater than or equal to 10 points, the preparation for transfusion and referral mechanism should be considered.


Subject(s)
Adult , Blood Loss, Surgical/statistics & numerical data , Female , Gestational Age , Humans , Logistic Models , Placenta Accreta/surgery , Predictive Value of Tests , Pregnancy , Retrospective Studies , Risk , Ultrasonography, Prenatal/statistics & numerical data
10.
Article in Chinese | WPRIM | ID: wpr-877623

ABSTRACT

OBJECTIVE@#To compare the therapeutic effect on type 2 diabetes mellitus (T2DM) complicated with angina pectoris of coronary heart disease between the combined therapy of acupuncture and western medication and the simple administration of western medication.@*METHODS@#A total of 134 patients with T2DM and angina pectoris of coronary heart disease were randomly divided into two groups, i.e. an acupuncture plus medication group (67 cases, 3 cases dropped off) and a medication group (67 cases, 4 cases dropped off). The routine western medication was used according to symptoms in the patients of both groups. In the acupuncture plus medication group, on the base of medication, acupuncture was applied to Jianshi (PC 5), Quchi (LI 11), Neiguan (PC 6), etc. The needles were retained for 20 min in each treatment and 3 treatments of acupuncture were required weekly. The treatment was given consecutively for 8 weeks in the two groups. Separately, before and after treatment, the symptom scores of TCM were observed and the indexes were detected, including glycolipid metabolism [fasting plasma glucose (FPG), 2-h plasma glucose (2hPG), glucosylated hemoglobin (HbA1c), triacylglycerol (TG) and total cholesterol (TC)], islet β cell function [homeostasis model assessment-β (HOMA-β), homeostasis model assessment-IR (HOMA-IR), fasting insulin (FINS) and insulin sensitivity index (ISI)], cardiac function indexes [cardiac output (CO), early diastolic peak velocity/late diastolic peak velocity (E/A), left ventricular end diastolic diameter (LVEDD) and left ventricular ejection fraction (LVEF)], as well as electrocardiogram QT dispersion (QTd). Besides, the clinical therapeutic effects were compared between the two groups.@*RESULTS@#After treatment, the TCM symptom scores and the values of FPG, 2hPG, HbA1c, TG, TC, HOMA-IR, FINS, E/A and LVEDD as well as QTd were all lower than those before treatment in the two groups (@*CONCLUSION@#The combined therapy of acupuncture and medication is effective in treatment of T2DM complicated with angina pectoris of coronary heart disease. Such therapy effectively improves glucolipid metabolism, islet β cell function, cardiac function and myocardial blood supply. Its curative effect is better than the simple administration of western medicine.


Subject(s)
Acupuncture Therapy , Angina Pectoris/etiology , Blood Glucose , Coronary Disease/drug therapy , Diabetes Mellitus, Type 2/drug therapy , Humans , Stroke Volume , Ventricular Function, Left
11.
Journal of Clinical Hepatology ; (12): 699-703, 2021.
Article in Chinese | WPRIM | ID: wpr-873820

ABSTRACT

Sorafenib, as the first-line treatment drug for advanced hepatocellular carcinoma (HCC), can effectively improve the prognosis of patients with HCC, but sorafenib resistance has become a major obstacle to the therapeutic outcome of HCC. Recent studies have shown that non-coding RNA plays a key role in sorafenib resistance in HCC. This article summarizes that non-coding RNA regulates the sensitivity of HCC to sorafenib by inducing the autophagy of hepatoma cells, promoting the proliferation of liver cancer stem cells, promoting the EMT process of hepatoma cells, inhibiting the apoptosis of hepatoma cells, and regulating the microenvironment of liver cancer tissue. It is pointed out that the molecular mechanism of non-coding RNA in regulating sorafenib resistance in HCC has potential clinical significance in overcoming sorafenib resistance in HCC.

12.
Article in Chinese | WPRIM | ID: wpr-885834

ABSTRACT

Objective:To investigate the awareness of diabetic retinopathy (DR) prevention and treatment knowledge of diabetic patients in the community of Shenzhen, and analyze its influencing factors.Methods:A cluster random sampling method was used to select 904 patients with diabetes diagnosed in 6 community health service centers in 2 administrative districts of Shenzhen and included in this study. Questionnaire survey of patients were performed to understand their knowledge of DR prevention and treatment. The multi-factor logistic regression analysis method was used to analyze the related influencing factors of DR prevention knowledge awareness.Results:Among 904 patients, 144 patients (15.93%, 144/904) knew about DR prevention and treatment knowledge. The highest awareness rate were about "Diabetes can affect vision and even cause blindness" (88.60%, 801/904). The lowest awareness rate (6.20%, 56/904) were about "DR treatment methods". About "diabetes requires regular fundus examinations" and "diabetics", the awareness rate of fundus examination interval were less than 50.00%. The results of multivariate logistic regression analysis showed that gender [odds ratio ( OR)=1.595], education level ( OR=2.963, 3.937), monthly income level ( OR=3.871, 4.675), diabetes course ≥15 years ( OR=1.829), treatment measures ( OR=3.318, 4.512). Whether people had DR ( OR=1.605) were important factors that affected the awareness of DR prevention and treatment knowledge ( P<0.05). Conclusions:The overall awareness of DR prevention and treatment knowledge among diabetic patients in the community of Shenzhen is relatively low. Males, low education and income levels are the main influencing factors.

13.
Chinese Journal of Neurology ; (12): 320-328, 2021.
Article in Chinese | WPRIM | ID: wpr-885423

ABSTRACT

Objective:To investigate the clinical characteristics and gene mutation of seven cases of CDKL5 gene related early-onset epileptic encephalopathy diagnosed by next-generation sequencing.Methods:The clinical data of children with early-onset epileptic encephalopathy from February 2018 to December 2019 in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were retrospectively analyzed. The whole exome sequencing method was used to analyze the entire exome of the proband, and seven cases of CDKL5 gene mutation positive were screened out, and Sanger sequencing verification on family members was performed to identify the source and the characteristics of gene mutations were analyzed.Results:Among the seven children diagnosed with CDKL5 gene related early-onset epileptic encephalopathy, the ratio of male to female was 2∶5, and the age of onset was 15 days to five months of birth. The clinical phenotypes all included different degrees of developmental delay and repeated seizures, which were manifested as general seizures, myoclonic seizures, convulsive seizures or focal seizures; the outcome of use of antiepileptic drugs to control seizures was poor, and some applications of ketogenic diet had better effects. CDKL5 gene mutation sites were all denovo mutations, including NM_003159: c.772_776del (p.K258Efs *10) frameshift mutation, NM_003159.2 (exon: 9-15) heterozygous deletion, CDKL5 hemizygous deletion, NM_003159: c.268 (exon5) G>T (p.E90 *, 941) and NM_003159: c.2578C>T (p.Q860 *, 171) nonsense mutation, NM_003159: c.211A>G (p.Asn71Asp) and NM_001323289: c.545T>C (p.L182P) missense mutation. Among them, c.772_776del (p.K258Efs *10), c.268 (exon5)G>T and c.2578C>T (p.Q860 *, 171) have not been reported. Conclusions:CDKL5 gene related early-onset epileptic encephalopathy is an early onset epilepsy, which is more common in women, and has different forms of seizures. The early electroencephalogram is characterized as severe abnormal brain discharge, and the disease progresses in various forms. There are no specific changes in head magnetic resonance imaging. Different gene mutation sites may lead to different phenotypes and prognostic differences. Many anti-epileptic treatments are ineffective, and ketogenic diets are effective for some patients.

14.
Chinese Journal of Neurology ; (12): 228-235, 2021.
Article in Chinese | WPRIM | ID: wpr-885407

ABSTRACT

Objective:To investigate the clinical phenotypes, therapy and genetic features of aldehyde dehydrogenase 7 family member A1 (ALDH7A1) gene mutations in five cases of pyridoxine dependent epilepsy (PDE) with diagnosis confirmed by next generation sequencing.Methods:Retrospective analysis was carried out on clinical data of five cases of PDE children with early epilepsy onset who were treated in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University from February 2018 to November 2019. Next generation sequencing approach was used for genetic sequencing of proband ALDH7A1 gene and the first generation Sanger was used for validation of family members. And the characteristics of gene mutations were analyzed.Results:Among the five children diagnosed with PDE, the male to female ratio was 4 ∶ 1 and ages at clinic visit ranged from two months to 10 months old. In clinical phenotypes, all five cases experienced onset in neonatal period, with repeated seizures, manifested as myoclonus, spasms or focal paroxysm. The administration of antiepileptic drugs performed poorly in seizure control while long term oral intake of large dose pyridoxine showed better efficacy. All the five cases of children came from compound heterozygous mutations of father and mother, i.e. slicing homozygous mutation c.247-2(IVS2)A>T, missense mutation c.584A>G (p.N195S) and nonsense mutation c.1003C>T(p.R335 *), missense mutation c.1553G>C(p.R518T) and c.1547A>G(p.Y516C), missense mutation c.1547A>G(p.Y516C) and frameshift mutation c.1566_1568delTAC, missense mutation c.1061A>G(p.Y354C) and nonsense mutation c.841C>T(p.Q281X, 259), among which c.247-2(IVS2)A>T was novel splicing site mutation not reported before. Conclusions:PDE is induced by ALDH7A gene mutation. Early clinical manifestations are mostly onset of refractory epilepsy in neonatal period. Antiepileptic drugs perform poorly in terms of efficacy while pyridoxine can control seizure effectively. Gene analysis should be conducted on such patients for confirmed diagnosis.

15.
Chinese Journal of Neurology ; (12): 34-39, 2021.
Article in Chinese | WPRIM | ID: wpr-885389

ABSTRACT

Objective:To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) infection.Methods:Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from Children′s Hospital Affiliated to Zhengzhou University in March 2019.Results:The one year and seven month-old child had acute encephalopathy, recurrent convulsions, consciousness disorders, elevated serum transaminase. The number of cerebrospinal fluid (CSF) cells was normal and the protein increased. High throughput gene testing of CSF showed HHV-6. Cranial magnetic resonance imaging showed multiple symmetry damage in the bilateral thalamus, brainstem, and cerebellum. The symptoms improved after the treatment of glucocorticoids, intravenous immunoglobulin, and plasmapheresis.Conclusions:ANE is a rare severe encephalopathy, the characteristic imaging change of which is symmetry multifocal cerebral damage, especially in the bilateral thalamus. ANE should be considered for patients with frequent convulsions and disturbance of consciousness after virus infection.

16.
Chinese Journal of Neurology ; (12): 16-21, 2021.
Article in Chinese | WPRIM | ID: wpr-885387

ABSTRACT

Objective:To report a rare case of early onset epileptic encephalopathy caused by YWHAG gene mutation, and discuss the clinical and genetic characteristics as well as the diagnosis, treatment and prognosis of the disease.Methods:Clinical data of the patient with YWHAG gene deficiency from Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University were collected in January 2018. The whole exome sequencing was performed on the core members of the family, and the characteristics of gene mutations were analyzed.Results:The proband is a girl, three years and 10 months old, presented to the outpatient department of neurology with a history of six-month intermittent convulsions, manifested as epilepsy seizures, mental retardation, motor delay and gait instability, ataxia. The brain magnetic resonance imaging showed myelinated dysplasia, and long-term video electroencephalogram (EEG) showed extensive 1.5-3.0 Hz slow spikes, and multiple spikes during sleep. During the monitoring, the children had clinical seizures and abnormal EEG discharges, indicating that myoclonus was accompanied by atypical absence of consciousness. Whole exome sequencing on the proband detected a de novo mutation c.169C>T (p.Arg57Cys) in YWHAG gene. According to American College of Medical Genetics guidelines (2015), the mutation was considered potentially pathogenic.Conclusion:Early epileptic encephalopathy caused by YWHAG gene mutation is very rare, and the variation of YWHAG gene c.169C>T is the possible pathogenic variation of the genetic cause of early onset epileptic encephalopathy in the proband.

17.
Article in Chinese | WPRIM | ID: wpr-884195

ABSTRACT

Objective:To investigate the applicability of time series model in predicting incidence of nosocomial infection in a cancer center in Shanghai, and to provide the references for early warning and prevention.Methods:The nosocomial infection data of inpatients of a tertiary oncology hospital in Shanghai from 2013 to 2018 were collected. The autoregressive integrated moving average (ARIMA) model and the exponential smoothing model were established by SPSS 22.0 expert modeler. The fitting predictions were compared between these two time series models to select the optimal one. The nosocomial infection data from January 2019 to June 2019 were used to test the predictive effect of the model.Results:A total of 379 477 cancer inpatients were studied, 3 170 of which acquired nosocomial infection and the incidence was 0.84% from 2013 to 2018. Additive Holt-Winters method exponential smoothing model was the better model with R2of 0.82. Using this model, the predicted value fitted well with observed value from January 2019 to June 2019, and the mean relative percentage error was 15.22%. Conclusion:Additive Holt-Winters method exponential smoothing model could be used to fit and predict the tendency of nosocomial infection among cancer patients, which can provide reference for surveillance of nosocomial infection in oncology hospitals.

18.
Article in Chinese | WPRIM | ID: wpr-883495

ABSTRACT

Mammalian catechol-O-methyltransferases(COMT)are an important class of conjugative enzymes,which play a key role in the metabolism and inactivation of catechol neurotransmitters,catechol es-trogens and a wide range of endobiotics and xenobiotics that bear the catechol group.Currently,COMT inhibitors are used in combination with levodopa for the treatment of Parkinson's disease in clinical practice.The crucial role of COMT in human health has raised great interest in the development of more practical assays for highly selective and sensitive detection of COMT activity in real samples,as well as for rapid screening and characterization of COMT inhibitors as drug candidates.This review summarizes recent advances in analytical methodologies for sensing COMT activity and their applications.Several lists of biochemical assays for measuring COMT activity,including the probe substrates,along with their analytical conditions and kinetic parameters,are presented.Finally,the challenges and future perspec-tives in the field,such as visualization of COMT activity in vivo and in situ,are highlighted.Collectively,this review article overviews the practical assays for measuring COMT activities in complex biological samples,which will strongly facilitate the investigations on the relevance of COMT to human diseases and promote the discovery of COMT inhibitors via high-throughput screening.

19.
Article in Chinese | WPRIM | ID: wpr-882409

ABSTRACT

Post-stroke cognitive impairment (PSCI) is a series of syndromes caused by stroke, involving impairment of one or more cognitive functions, such as attention, language function, executive function, visuospatial cognition, episodic memory and working memory, etc. The traditional treatment methods of PSCI include drug therapy and cognitive training. The treatment modalities are limited and the maintenance effect is not good. Therefore, an auxiliary treatment method is urgently needed to improve its therapeutic effect. Transcranial direct current stimulation (tDCS) is a safe and mature non-invasive brain stimulation technique, which generates weak direct current (1-2 mA) through electrodes placed on the scalp to change the resting membrane potential of neurons, regulate the excitability of the cerebral cortex, so as to achieve the purpose of treatment. This article reviews the effect of tDCS on PSCI, and hopes to provide reference and guidance for its rehabilitation treatment.

20.
Article in Chinese | WPRIM | ID: wpr-882207

ABSTRACT

Objective:To understand the epidemic status of patients with hypertension and diabetes among residents aged ≥35 years in Shanghai. Methods:The data of "Monitoring of Chronic Diseases and Behavioral Risk Factors in Shanghai in 2013" were used for analysis. Residents aged ≥35 years were selected to analyze the prevalence, awareness, treatment and control in patients with hypertension and diabetes. Results:The prevalence rate of patients with both hypertension and diabetes was 11.25% (95%CI:10.29%-12.29%) among residents aged ≥35 years in Shanghai. The older the age was, the higher the prevalence rated. The rate was the highest in urban area, second in rural area, and the lowest in urban-rural area. Education level of senior high school or above had lower rate than junior high school or below. The non-occupational group had the highest rate and the non-agricultural occupation group had the lowest. The widowed/separated/divorced groups had the highest rate and the married group had the lowest. The rate in obese people was the highest and normal people was the lowest. People with sleep time ≥6 h had a lower rate than those with sleep <6 h. All the above differences were statistically significant (χ2=890.98, 28.91, 61.92, 315.34, 123.72, 441.45, 8.77,all P<0.05). The awareness rate was 50.09% (95%CI:46.54%-53.64%), the highest in 60-74 years old group and the lowest in 35-44 years old group. The awareness rate in urban area was higher than that in the urban-rural junction, and the rural area was the lowest. The treatment rate was 45.67% (95%CI:42.45%-48.92%) and the age was proportional to the treatment rate. The treatment rate from high to low in order was city, urban and urban-rural junction, rural areas. The differences in age, region awareness rate and treatment rate were statistically significant (χ2=43.27, 35.19, 37.59, 37.56,all P<0.05). Control rates was 6.45% (95%CI:5.17%-8.01%), 60-74 age group had the highest, and the age group from 35 to 44 years old had the lowest, and the difference was statistically significant (χ2=20.35,P<0.05). The treatment control rate was 14.11% (95%CI:11.54%-17.15%). Conclusion:The prevalence rate of patients with co-existing hypertension and diabetes in Shanghai residents is high, the awareness rate and treatment rate are general, and the control rate is low. It is urgent to improve the comprehensive prevention and treatment level of patients with hypertension and diabetes.

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