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1.
Article in Chinese | WPRIM | ID: wpr-905190

ABSTRACT

Objective:To analyze the clinical application and main roles of Cardiopulmonary Exercise Test (CPET) in patients with lung cancer based on the theory of the World Health Organization Family International Classifications (WHO-FICs). Methods:An evidence-based scoping review was implemented. Literatures related to the applications of CPET in patients with lung cancer were retrieved, from databases including PubMed, Web of Science, CNKI and Wanfang data; from January, 2013 to April, 2021. The indications, contraindications, motor dysfunction, pulmonary rehabilitation interventions, evaluation methods and indicators, and the environment factors of CPET applicated in patients with lung cancer was reviewed based on WHO-FICs framework. Results:This paper analyzed the included literatures from five aspects: the type of disease, functioning, pulmonary rehabilitation exercise interventions, functioning evaluation and environment factors. The major diseases included different pathological types of non-small cell lung cancer (NSCLC) (2C25), and the most common complication of lung cancer was chronic obstructive pulmonary disease (COPD) (CA22). The obstacles of CPET conducted in lung cancer patients mainly included physical structure and functional activities and participation obstacles. Pulmonary rehabilitation based on the CPET was divided into therapeutic, preventive and health promotion interventions. The evaluation tools and indicators were oxygen intake, carbon dioxide output, oxygen pulse, heart rate, blood pressure, electrocardiogram, Borg Scale, 6-minute Walking Test, the MOS Item Short Form Health Survey (SF-36), etc. The classification and description of environmental factors were provided. Conclusion:The application of CPET in lung cancer mainly included preoperative evaluation and prognosis prediction, exercise prescription formulation and exercise effect assessment, anti-cancer treatment impact assessment. Based on WHO-FICs theory system, the applications of CPET mainly involved NSCLC, and COPD was the most common complication of lung cancer. Pulmonary rehabilitation for lung cancer is function- and demand-oriented. Based on CPET evaluation results, individualized therapeutic, preventive and health promotion interventions are conducted to improve the overall function and optimize the health outcomes of patients with lung cancer.

2.
Asian Journal of Andrology ; (6): 580-589, 2021.
Article in English | WPRIM | ID: wpr-922375

ABSTRACT

The synaptonemal complex (SC) is a meiosis-specific proteinaceous macromolecular structure that assembles between paired homologous chromosomes during meiosis in various eukaryotes. The SC has a highly conserved ultrastructure and plays critical roles in controlling multiple steps in meiotic recombination and crossover formation, ensuring accurate meiotic chromosome segregation. Recent studies in different organisms, facilitated by advances in super-resolution microscopy, have provided insights into the macromolecular structure of the SC, including the internal organization of the meiotic chromosome axis and SC central region, the regulatory pathways that control SC assembly and dynamics, and the biological functions exerted by the SC and its substructures. This review summarizes recent discoveries about how the SC is organized and regulated that help to explain the biological functions associated with this meiosis-specific structure.


Subject(s)
Animals , Chromosome Segregation , Meiosis/physiology , Synaptonemal Complex/physiology
3.
Chinese Journal of Geriatrics ; (12): 859-862, 2021.
Article in Chinese | WPRIM | ID: wpr-910929

ABSTRACT

Objective:To investigate changes in autonomic nervous system function in elderly coronary heart disease patients with hypertension.Methods:Clinical data of 186 patients with coronary heart disease(CHD)from January 2017 to January 2021 in our hospital were retrospectively collected.Patients were divided into the CHD group(n=93)and the CHD with hypertension group(n=93)according to whether they had hypertension.All subjects underwent 24-hour dynamic electrocardiogram, and differences in heart rate variability(HRV)were analyzed and compared between the groups.Results:Values from time-domain parameters for HRV included the standard deviation of the normal-to-normal R-R intervals( SDNN)[(77.4±15.1)ms vs.(114.6±25.9)ms, t=11.97, P<0.05], the standard deviation of sequential five-minute R-R interval means( SDANN)[(66.8±14.5)ms vs.(97.4±25.0)ms, t=10.21, P<0.05], the SDNN index[(34.1±11.4)ms vs.(51.9±18.0)ms, t=8.07, P<0.05], the root mean square successive difference( rMSSD)[(26.1±13.9)ms vs.(36.1±27.2)ms, t=3.18, P<0.05], and the percentage of successive normal interbeat intervals greater than 50 milliseconds(PNN50)[(5.0±6.4)% vs.(8.3±11.0)%, t=2.53, P<0.05], and were lower in the CHD with hypertension group than in the CHD group.Values from frequency-domain parameters for HRV included low frequency(LF)[(168.9±202.8)ms vs.(443.6±663.6)ms, t=3.78, P<0.05], high frequency(HF)[(203.3±202.5)ms vs.(499.5±1222.7)ms, t=2.28, P<0.05], and the LF/HF ratio(1.0±0.7 vs.1.3±0.8, t=3.18, P<0.05), and were lower in the CHD with hypertension group than in the CHD group. Conclusions:Impairment of cardiac autonomic nervous system function is more serious in elderly CHD patients with hypertension than in elderly CHD patients.Heart rate variability is a valuable clinical indicator and may be used for treatment targets in evaluating dysfunction of the autonomic nervous system in CHD patients with hypertension.

4.
Article in Chinese | WPRIM | ID: wpr-888062

ABSTRACT

This research established the HPLC methods for the determination of perillaketone, perillaldehyde, caffeic acid, scutellarin, and rosmarinic acid in 33 batches of Perillae Folium. Kromasil C_(18)(4.6 × 250 mm, 5 μm) chromatographic column was used, and the mobile phase for determination of the perillaketone and perillaldehyde was methanol-water(55∶45) solution, at a flow rate of 1.0 mL·min~(-1), with the column temperature at 30 ℃. The mobile phase for the determination of caffeic acid, scutellarin and rosmarinic acid was methanol(A)-0.2% phosphoric acid aqueous solution(B) with gradient elution(0-20 min, 25%-30% A; 20-60 min, 30%-43% A). The flow rate was 1.0 mL·min~(-1) and the column temperature was set at 30 ℃. The results showed that the established method can achieve good separation of the five components in samples, with a good linear relationship and high accuracy, indicating that the methods can be used for the determination of Perillae Folium. The results showed that all samples contained five components. And the content of rosmarinic acid(0.04%-1.57%) > scutellarin(0.03%-0.77%) > perillaldehyde(0.02%-0.66%) > perillaketone(0.03%-0.30%) > caffeic acid(0.006%-0.07%). Thirty-three Batches of Perillae Folium can be grouped into 5 categories. There are certain content rules and region specificities under different clusters. Perillaketone, perillaldehyde, and rosmarinic acid can be used as the main markers to evaluate the quality of Perillae Folium.


Subject(s)
Chromatography, High Pressure Liquid , Drugs, Chinese Herbal , Plant Extracts , Plant Leaves
5.
Article in Chinese | WPRIM | ID: wpr-888061

ABSTRACT

In recent years, the establishment of the commercial grade of Yinpian [traditional Chinese medicine(TCM) pieces for decoction] in the TCM industry has been hotly disputed. In this article, Sophorae Flavescentis Radix(SFR) was selected as a representative example to investigated. Through systematic comparison and analysis, the different grades of SFR slices were traced, verified and evaluated. According to the current published local grade standards of SFR slices, the results showed that the first-class of SFR slices were mostly derived from the wild medicinal materials, the second-class were mostly originated from the cultivated materials in 3-4 years, and the third-class products were from a small number of lateral roots and short-growing years or harsh habitat of wild medicinal materials. On the basis of identifying the sources of different grades of SFR slices, the contents of the active components, including matrine, oxymatrine, oxysophocarpine, sophoridine, N-methyl-cytisine, sophocarpine, were quantitatively determined in typical samples, it was found that the grades were inversely proportional to the contents of active ingredients. In order to ensure the universality of the conclusion, the contents of different grades of commercial SFR slices were determined, and the conclusion was verified as "the commercial grades of SFR slices were inversely linked to their contents of active ingredients". This phenomenon is common in the determination of the commercial grade of Yinpian of radix and rhizome. Therefore, we propose that the method or standard of the commercial grade of Yinpian of radix and rhizome based on the size of Yinpian maybe not proper. Whether and how to classify Yinpian commercial grade is not only a multi-disciplinary issue, especially in combination with clinical efficacy, but also a big problem need to consider the production, commercial circulation and other processes link of quality risk and quality assurance, and should be treated with great caution.


Subject(s)
Drugs, Chinese Herbal , Medicine, Chinese Traditional , Plant Roots , Rhizome , Sophora
6.
Article in Chinese | WPRIM | ID: wpr-888059

ABSTRACT

Paris polyphylla var. chinensis(PPC) is used as one of the origin plants of Paridis Rhizoma described in the Chinese Pharmacopoeia(2020 edition). Its resources shortage makes the planting scale gradually expand, and plenty of aerial parts are abandoned because of not being effectively used. On the basis of previous research, this study separated steroidal saponins to further clarify the chemical composition of the aerial parts of PPC. As a result, three pairs of 25R or 25S epimers of furostanol saponins were obtained by various column chromatography techniques. Their structures were identified as neosolanigroside Y6(1), solanigroside Y6(2), neoprotogracillin(3), protogracillin(4), neoprotodioscin(5) and protodioscin(6) by spectral data combining with chemical transformation. Compound 1 is a new compound, and compounds 2, 3 and 5 are isolated from Paris plants for the first time. Compounds 4 and 6 are isolated from this plant for the first time. Previously, only several spirostanol glycosides with 25S configuration were isolated from Paris plants. Guided by mass spectrometry, the present study isolated the furostanol saponins with 25S configuration from this genus for the first time, which further enriches the chemical information of Paris genus and provides a reference for the isolation of similar compounds.


Subject(s)
Liliaceae , Melanthiaceae , Plant Extracts , Rhizome , Saponins
7.
Article in Chinese | WPRIM | ID: wpr-888058

ABSTRACT

Sophorae Flavescentis Radix,derived from the root of Sophora flavescens in the Leguminosae family,has been widely used in the medicine,agriculture,animal husbandry,and daily chemical industry. A pharmacophore model-based method for rapid discovery of tyrosinase inhibitors( TIs) from S. flavescens was established by molecular docking under Lipinski rules,and verified by enzyme assays. Briefly,the chemical constituent database of S. flavescens( CDSF) was established based on the previous papers. Theoptimal pharmacophore model( OPM) was constructed by DS 2019 on the basis of known active TIs. Eighty-three hits predominated by flavonoids having higher fitting scores with OPM than the positive control were screened out,and subjected to molecular docking based on the three-dimensional structure of tyrosinase crystal protein. The potential TIs such as kurarinone and nor-kurarinone were rapidly discovered from the compounds with higher docking scores than the positive control under the Lipinski rules. The results were verified by the in vitro enzyme assays. The inhibition activities of tyrosinase from non-medicinal parts of S. flavescens were also tested to explore the relationship between the inhibition activity and chemical compositions. This study is expected to provide data support for the comprehensive application and development of S. flavescens and also a new method for the rapid discovery of active substances or functional constituents in the complex systems.


Subject(s)
Animals , Flavonoids , Molecular Docking Simulation , Monophenol Monooxygenase , Plant Extracts/pharmacology , Plant Roots , Sophora
8.
Article in Chinese | WPRIM | ID: wpr-888031

ABSTRACT

As a new strategy capable of uncovering the characteristics of traditional Chinese medicines, the quantitative analysis of multi-components by single-marker(QAMS) has been widely employed for the quality evaluation of Chinese medicinal materials, slices, and extracts. However, its application in the assessment of Chinese patent medicines is yet to be explored. By referring to the determination of three bufogenins in Bufonis Venenum by QAMS described in Chinese Pharmacopoeia(2020 Edition), this paper selected seven representative preparations containing Bufonis Venenum and explored whether the relative correction factors(RCFs) of cinobufagin(CB) to bufalin(BF) and resibufogenin(RB) could be directly used for the quality control of Bufonis Venenum-contained preparations. Based on the qualitative analyses under the same chromatographic conditions as used for toad venom, combing specificity test, five preparations such as Yatong Yili Pills, Houzheng Pills, Xiongdan Jiuxin Pills, Liushen Pills and Niuhuang Xiaoyan Pills, were expected to use validated RCFs for the direct determination of three components. Taking Houzheng Pills as an example, the methodological validation of bufalin, cinobufagin and resibufogenin was carried out, and the recoveries of bufalin, cinobufagin and resibufogenin were 90.64%-106.1%. The obvious difference was not observed between the contents of bufalin and resibufogenin in 24 batches of preparation samples by QAMS and external reference method. In the tested samples, the content of bufalin, cinobufagin and resibufogenin were 1.27-2.61, 2.44-5.66 and 0.988-3.16 mg·g~(-1) in 10 batches of Liushen Pills samples. The contents of bufalin, cinobufagin and resibufogenin were 0.760-1.32, 1.35-2.39 and 0.600-1.55 mg·g~(-1) in 10 batches of Houzheng Pills samples from three manufacturers. The obtained data contribute to improving the quality standard of Bufonis Venenum-contained preparations, and they also provide some ideas for the application of QAMS in the quality evaluation and control of Chinese patent medicines.


Subject(s)
China , Chromatography, High Pressure Liquid , Medicine, Chinese Traditional , Nonprescription Drugs , Quality Control
9.
Article in Chinese | WPRIM | ID: wpr-888029

ABSTRACT

The dried fruit body of Phylloporia ribis(Hymenochaetaceae), which prefers to live on the stumps of Lonicera japonica(Caprifoliaceae), has a variety of activities, whereas its pharmacodynamic material basis is not completely clear and there are few reports on its quality control and evaluation. In this study, an UPLC-Q-TOF-MS method was used to analyze the nucleosides and nucleobases in P. ribis and a HPLC method was established for simultaneous determination of 10 nucleosides and nucleobases. MS and MS/MS data were acquired in positive ion mode. Based on the data comparison of the sample and the reference substance, the literature data and the compound databases of ChemSpider and PubChem, 18 nucleosides and nucleobases were identified qualitatively from the water extract of P. ribis for the first time. After optimization, the HPLC was performed using a Welch Ultimate AQ C_(18) column(4.6 mm×250 mm, 5 μm) by gradient elution with acetonitrile and water as mobile phase, the flow rate of 1.0 mL·min~(-1), the detection wavelength of 260 nm, and the column temperature of 30 ℃. Through the investigation of the extraction method, solvent and time, it was determined that the test solution should be obtained by cold water extraction for 18 h. At the present HPLC conditions, 10 components of uracil, cytidine, hypoxanthine, uridine, thymine, inosine, guanosine, 2'-deoxyinosine, 2'-deoxyguanosine and thymidine could be well separated(R > 1.5) and showed good linearity(r > 0.999 9) in the concentration ranges of 0.247-24.7, 0.283-28.3, 0.273-27.3, 0.256-25.6, 0.257-25.7, 0.318-31.8, 0.245-24.5, 0.267-26.7, 0.250-25.0 and 0.267-26.7 mg·L~(-1), respectively. The average reco-veries of 10 components were 95.78%-104.5%, and the RSDs were 2.2%-5.2%(n=6). The contents of 10 nucleosides and nucleobases in different samples of P. ribis varied greatly, which were 0.021-0.122, 0.004-0.029, 0.014-0.226, 0.009-0.442, 0.003-0.014, 0.002-0.146, 0.007-0.098, 0-0.054, 0.005-0.069, 0.004-0.081 and 0.072-1.28 mg·g~(-1) for uracil, cytidine, hypoxanthine, uridine, thymine, inosine, guanosine, 2'-deoxyinosine, 2'-deoxyguanosine, thymidine and total 10 components, respectively. These results demonstrated that the components had significant differences in the internal quality, and good quality control was needed to ensure the medical efficacy. This study provides a scientific basis for the discovery of pharmacodynamic ingredients, quality control and evaluation of P. ribis.


Subject(s)
Basidiomycota , Chromatography, High Pressure Liquid , Guanosine , Nucleosides , Tandem Mass Spectrometry
10.
Article in Chinese | WPRIM | ID: wpr-888028

ABSTRACT

Paridis Rhizoma(PR) is prepared from the dried rhizome of Paris polyphylla var. yunnanensis(PPY) or P. polyphylla var. chinensis(PPC) in Liliaceae family. The rapid development of PPY or PPC planting industry resulted from resource shortage has caused the waste of a large number of non-medicinal resources. To clarify the chemical compositions in rhizomes, fibrous roots, stems, leaves, seeds and pericarps of PPC, and explore the comprehensive application value and development prospect of these parts, the qualitative and quantitative analyses on the different parts of PPC were carried out by ultra-high performance liquid chromatography tandem quadrupole time-of-flight mass spectrometry(UPLC-Q-TOF-MS/MS) and high performance liquid chromatography(HPLC). A total of 136 compounds were identified, including 112 steroidal saponins, 6 flavonoids, 11 nitrogen-containing compounds and 7 phytosterols. Rhizomes, fibrous roots, and seeds mainly contained protopennogenyl glycosides and pennogenyl glycosides; leaves and stems mainly contained protodiosgenyl glycosides and diosgenyl glycosides; pericarps mainly contained pennogenyl glycosides, followed by diosgenyl glycosides. The total level of four saponins was the highest in fibrous roots and rhizomes, followed by those in the pericarps and arillate seeds, and the lowest in the stems and exarillate seeds. This study can provide data support for the comprehensive development and rational application of non-medicinal parts of PPC.


Subject(s)
Chromatography, High Pressure Liquid , Liliaceae , Melanthiaceae , Rhizome , Saponins , Tandem Mass Spectrometry
11.
International Eye Science ; (12): 1665-1668, 2021.
Article in Chinese | WPRIM | ID: wpr-886458

ABSTRACT

@#AIM: To investigate the application and therapeutic effect of allogeneic sclera transplantation combined with arbitrary flap plasty in the treatment of moderate and severe deep and full-thickness eyelid defect.<p>METHODS: Medical records of 103 patients(103 eyes)who underwent allogeneic scleral transplantation combined with random flap plasty in the treatment of moderate and severe deep and full-thickness eyelid defect from June 2017 to June 2020 were retrospectively reviewed. All patients were followed up for 1-6mo after operation was performed to evaluate the postoperative effects of the resorption and compatibility of allogeneic sclera, the survival situation of skin flaps, eyelid appearance, eyelid closure, eyelid scar.<p>RESULTS: Follow up observation from 1-6mo after operation, the allogeneic sclera was gradually replaced by the receptor tissue, allogeneic sclera in the inner layer of the eyelid was covered with conjunctival cells, allogeneic sclera and skin join closely together in the outer layer of the eyelid. There was no rejection in allogeneic sclera. All patients had survived skin flaps, good eyelid shape, natural eyelid closure, and no scars.<p>CONCLUSION: The allogeneic sclera transplantation combined with random flap plasty has curative effect in the repair of moderate and severe deep and full-thickness eyelid defect. It has both function and aesthetics result, and it is suitable for clinical promotion.

12.
Article in Chinese | WPRIM | ID: wpr-885614

ABSTRACT

Objective:To observe the effect of combining transcranial direct current stimulation (tDCS) with functional electrical stimulation-assisted cycling (FES-cycling) on lower limb motor function early after a stroke.Methods:Thirty-seven survivors of a recent stroke were divided into a tDCS treatment group ( n=18) and a pseudo-stimulation group ( n=19). While receiving routine rehabilitation training and clinical drug treatment, the tDCS treatment group also cycled in response to functional electrical stimulation while simultaneously receiving tDCS anode stimulation of the motor cortex M1 area. The pseudo-stimulation group followed the same protocol but with the tDCS stimulation inactivated. Both groups were treated for 20min daily, 5 days weekly for 4 weeks. Before and after the 4 weeks of treatment, the lower limb motor function, walking ability and ability in the activities of daily living of both groups were evaluated using the Fugl-Meyer assessment scale for the lower extremities (FMA-LE), the timed up and go test (TUGT) and the modified Barthel index (MBI) respectively. Transcranial magnetic stimulation was used to detect each subject′s cerebral cortex motor threshold (CMT) , cortical latency (CL) and central motor conduction time (CMCT) as well as the amplitude (Amp) of the motor evoked potential of the lower limb primary motor cortex (M1 area). Results:After 4 weeks of treatment, the average FMA-LE and MBI scores and TUGT times of the two groups had improved significantly compared with those before treatment. The average FMA-LE score and TUGT time of the tDCS group were significantly better than those of the pseudo-stimulation group. The average CMT, CL and CMCT in both groups were significantly lower than those before the intervention, while the average Amp had increased significantly, but there were significant differences in the average CMT, Amp, CL and CMCT between the two groups after the 4 weeks of treatment.Conclusions:Transcranial direct current stimulation combined with cycling assisted by functional electrical stimulation can effectively stimulate excitability in the motor cortex soon after a stroke. That should promote the recovery of nerve activity and lower limb function.

13.
Journal of Integrative Medicine ; (12): 167-176, 2021.
Article in English | WPRIM | ID: wpr-880997

ABSTRACT

OBJECTIVE@#Metabolic syndrome is a complex medical condition that has become an alarming epidemic, but an effective therapy for this disease is still lacking. The use of the herbal formula Huangqisan (HQS) to treat diabetes is documented in the Chinese medical literature as early as 1117 A.D.; however, its therapeutic effects and underlying mechanisms remain elusive.@*METHODS@#To investigate the beneficial effects of HQS on metabolic disorders, high-fat diet-induced obesity (DIO), leptin receptor dysfunction (db/db) and low-density lipoprotein receptor-knockout (LDLR@*RESULTS@#HQS lowered body weight, fasting blood glucose and serum lipid levels and improved glucose tolerance and insulin sensitivity in DIO mice and db/db mice (P < 0.05). HQS also blocked atherosclerotic plaque formation in LDLR@*CONCLUSION@#HQS is effective for reversing metabolic disorder and has the potential to be used as therapy for metabolic syndrome.

14.
Article in Chinese | WPRIM | ID: wpr-909500

ABSTRACT

Objective:To explore the chain mediating effect of depression and rumination between negative life events and non-suicidal self-injury(NSSI).Methods:Adolescents self-harm scale was used to investigate 1 000 students in a vocational school of Guizhou Province. A total of 333 vocational students with NSSI were screened through, and further investigated by adolescent self-rating life events check list (ASLEC), the center for epidemiological studies depression scale (CES-D), and ruminative Response Scale (RRS). SPSS 25.0 and Mplus 8.1 software were used for data analysis, and the bias corrected percentile Bootstrap method was used to test the mediating effect.Results:(1)The scores for negative life events, depression, rumination and NSSI were 67.00 (54.00, 79.00), 47.00 (39.00, 53.50), 64.00 (54.00, 76.00) and 7.00 (2.00, 10.00) respectively.(2)Negative life events were positively correlated with depression ( r=0.29, P<0.01), rumination ( r=0.40, P<0.01), and NSSI ( r=0.18, P<0.01). (3)The mediating effect size of depression between negative life events and NSSI was 0.07, accounting for 38.89% of the total indirect effect.The mediating effect size of rumination between negative life events and NSSI was 0.06, accounting for 33.33% of the total indirect effect.The chain mediating effect of depression and rumination between negative life events and NSSI was 0.05, accounting for 27.78% of the total indirect effect. Conclusion:Negative life events can indirectly affect NSSI of vocational education students through depression and rumination, as well as the chain mediating path.

15.
Article in Chinese | WPRIM | ID: wpr-879479

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a patient presenting with dysmorphism, intellectual disability, psychomotor delay and hypoplasia of corpus callosum by using next generation sequencing.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and his family members and subjected to exome sequencing. Suspected variants were verified with Sanger sequencing.@*RESULTS@#The patient was found to carry a heterozygous c.1357delAinsGGA variant in exon 11 of the TCF4 gene, which was verified as de novo by Sanger sequencing. The variant may result in a truncated protein and affect its function.@*CONCLUSION@#The heterozygous c.1357delAinsGGA variant the TCF4 gene probably underlies the disease in the proband.


Subject(s)
Facies , Genetic Testing , Humans , Hyperventilation/genetics , Intellectual Disability/genetics , Male , Transcription Factor 4/genetics
16.
Article in Chinese | WPRIM | ID: wpr-781298

ABSTRACT

OBJECTIVE@#To explore the genetic basis of a patient featuring global developmental delay, intellectual disability, cleft palate, seizures and hypotonia.@*METHODS@#Clinical examination and laboratory tests were carried out. Peripheral blood samples were obtained from the patient and his parents. Whole genomic DNA was extracted and subjected to next generation sequencing. Candidate variation was analyzed by using bioinformatic software and validated by Sanger sequencing.@*RESULTS@#The proband was found to carry a heterozygous c.2117T>C (p.Leu706Pro) variant of the NEDD4L gene, which was a de novo variant validated by Sanger sequencing and predicted to be likely pathogenic according to the American College of Medical Genetics Guidelines.@*CONCLUSION@#The heterozygous variant of c.2117T>C (p.Leu706Pro) of the NEDD4L gene probably underlies the disorders in the patient.


Subject(s)
Genetic Testing , Heterozygote , Humans , Intellectual Disability , Genetics , Male , Mutation , Nedd4 Ubiquitin Protein Ligases , Genetics , Periventricular Nodular Heterotopia , Genetics
17.
Article in Chinese | WPRIM | ID: wpr-781279

ABSTRACT

OBJECTIVE@#To explore the genetic etiology of a girl featuring epilepsy, speech delay and mild mental retardation.@*METHODS@#Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted and subjected to next generation sequencing. Suspected variant was confirmed by Sanger sequencing.@*RESULTS@#The child was found to carry a de novo heterozygous c.3592G>A (p.V1198M) variant of the SMARCA2 gene, which was predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The child was diagnosed with Nicolaides-Baraitser syndrome due to heterozygous variant of the SMARCA2 gene.

18.
Article in Chinese | WPRIM | ID: wpr-781274

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a neonate featuring global developmental delay.@*METHODS@#Clinical and laboratory tests were carried out for the patient. Peripheral venous blood samples were collected from the neonate and his parents for the extraction of DNA. Potential variant was detected by using targeted capture and next generation sequencing for a panel of genes associated with nervous system diseases. Suspected variant was validated by Sanger sequencing.@*RESULTS@#The nine-month-old boy manifested global developmental delay and was unstable to sit alone and distinguish strangers from acquaintance. Genetic testing revealed two novel variants of the SLC19A3 gene in him, namely c.448G>A and c.169C>T. The amino acids encoded by the two codons are highly conservative, and both variants were predicted to be pathogenic by bioinformatic analysis.@*CONCLUSION@#The compound heterozygous c.448G>A and c.169C>T variants probably underlay the onset of disease in the patient. Above finding also enriched the variant spectrum of SLC19A3 gene underlying Biotin-thiamine responsive basal ganglia disease.

19.
Article in Chinese | WPRIM | ID: wpr-799592

ABSTRACT

Objective@#To evaluate the effectiveness of health belief model-based health education intervention in improving blood pressure control of patients with hypertension in community settings.@*Methods@#From September 2016 to September 2017, 400 newly diagnosed patients with hypertension were recruited from 6 community healthcare centers with comparable population size and health services in the Shunyi District of Beijing. All community healthcare centers were randomly assigned to the intervention group (206 patients) and the control group (194 patients). Patients in the intervention group received 3 lectures (20-30 min for each) of health belief model-based health education. Patients in the control group received usual care. The basic characteristics, health beliefs, and health literacy were collected, and blood pressure was measured before and after the intervention, respectively. The difference-in-difference model was used to analyze the change of blood pressure and the influencing factors between two groups before and after the intervention.@*Results@#A total of 134 patients in the intervention group and 129 patients in the control group completed the study. After adjusting for the age, gender, family income, medical insurance, chronic diseases and family history, the score of perceived barriers was increased by 1.65 (P=0.016), and perceived seriousness was decreased by 0.73 (P=0.018). The systolic blood pressure of patients was decreased by 7.37 mmHg (1 mmHg=0.133 kPa, P=0.001) and diastolic blood pressure was decreased by 4.07 mmHg (P=0.014), respectively. The β (95%CI) values were -7.37 (-11.88,-2.86) and -4.07 (-7.30, -0.84). The perceived susceptibility and self-efficacy had a significant influence on the blood pressure of patients (P<0.05).@*Conclusion@#Health belief model-based health education intervention could significantly improve the blood pressure control of patients with hypertension in the community settings.

20.
Article in Chinese | WPRIM | ID: wpr-828310

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic characteristics of an infant girl featuring comprehensive developmental backwardness.@*METHODS@#The patient was subjected to clinical examination, gas chromatography mass spectrometry and next-generation sequencing (NGS).@*RESULTS@#The child was insensitive to sound, could not turn over, raise head, laugh or recognize his mother. Laboratory tests were all normal, but metabolic analysis suggested 3-methylglutaconic aciduria due to elevated 3-methylglutaconic acid and 3-methylglutaric acid. NGS has detected two compound heterozygous CLPB variants in the child, namely c.1085G>A and c.1700A>C, which were respectively inherited from her father and mother. Bioinformatic analysis predicted both variants to be pathogenic. The patient was diagnosed with 3-methylglutaconic aciduria type VII (MGCA7).@*CONCLUSION@#The MGCA7 in the child was probably caused by CLPB gene variants. NGS has provided a powerful diagnostic tool for this rare disorder.


Subject(s)
Endopeptidase Clp , Genetics , Female , Genetic Testing , High-Throughput Nucleotide Sequencing , Humans , Infant , Metabolism, Inborn Errors , Genetics
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