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1.
Bioprocess Biosyst Eng ; 43(2): 293-301, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31602490

RESUMEN

Long-term and excessive use of monocrotophos (MPs) pesticide leads to an accumulation of MPs residues in agricultural products. Electrochemical biosensor technology was developed as a simple and efficient method for detecting MPs. However, commercial acetylcholinesterase (AChE) sensors are not applied in practical MPs detection due to poor stability and reliability. In this study, the advantages of functionalized carbon nanotubes (Cl/MWCNTs) and a bi-enzyme system (horseradish peroxidase (HRP)/AChE) were combined, a novel bi-enzyme electrode (Cl/MWCNTs/HRP/AChE/GCE) was constructed. Under optimal conditions, the bi-enzyme sensor had a wide detection range of 1.0 × 10-11 to 1.0 × 10-7 mol/L and low detection limit of 4.5 × 10-12 mol/L. The proposed AChE biosensor exhibited excellent stability and sensitivity for MPs determination and presented a promising tool for monitoring food safety.


Asunto(s)
Acetilcolinesterasa/química , Técnicas Biosensibles , Enzimas Inmovilizadas/química , Líquidos Iónicos/química , Monocrotofos/análisis , Nanotubos de Carbono/química , Peroxidasa de Rábano Silvestre/química
2.
Zhongguo Zhong Yao Za Zhi ; 45(21): 5238-5247, 2020 Nov.
Artículo en Zh | MEDLINE | ID: mdl-33350241

RESUMEN

This article is to investigate the effect of piperine on the small intestine of mice with Parkinson's disease with dementia(PDD). Ninety-six C57 BL/6 mice of SPF grade were randomly divided into 8 groups(male, 12 in each group): normal group, model group, autophagy inhibitor group(6-amino-3-methylpurine, 3 MA, 30 mg·kg~(-1)), autophagy activator group(rapamycin, 1 mg·kg~(-1)), low, medium, and high dose piperine groups(10, 20, 40 mg·kg~(-1)), and medopar group(112.5 mg·kg~(-1)). Except for the normal group, mice in each group were injected subcutaneously with reserpine(0.1 mg·kg~(-1)) once every 48 hours for 40 days. In addition, on the 20 th day of administration, except for the normal group, the mice in the other groups were subjected to bilateral common carotid artery occlusion to finally prepare PDD models. At the same time, each group was given the corresponding drug treatment once a day for 40 days. After the last administration, the behavioral changes of mice were observed by autonomic activity experiment and hot plate experiment. The expression levels of α-synuclein(α-syn) and tyrosine hydroxylase(TH) in the small intestine were detected by immunohistochemistry. The expression levels of beclin-1, microtubule-associated protein 1 light chain 3 B(LC3 B) and p62 in the small intestine were detected by immunofluorescence assay. Hematoxylin-eosin staining was used to observe the pathological morphology of small intestine tissues in each group. Enzyme-linked immunosorbent assay was adopted for detection of ß-amyloid precursor protein(APP), p-tau, acetylcholine transferase(ChAT), interleukin-6(IL-6) and tumor necrosis factor-α(TNF-α) in small intestine. Real-time fluorescent quantitative polymerase chain reaction was used to detect the expression of α-syn, TH, beclin-1, microtubule-associated protein 1 light chain 3(LC3), and p62 mRNA and mmu-miR-99 a-5 p in the small intestine. The results of this study showed that, as compared with the model group, the number of activities, the expression levels of ChAT, TH, and p62 were significantly increased in the 3 MA group, the various piperine dose groups, and the medopar group(P<0.05), and their first foot licking time was shortened; APP, p-tau, IL-6, TNF-α, α-syn, beclin-1, LC3 B and mmu-miR-99 a-5 p expression levels were significantly reduced(P<0.05). However, as compared with the model group, the number of activities, ChAT, TH, and p62 expression levels in the rapamycin group were significantly reduced(P<0.05), and the APP, p-tau, IL-6, TNF-α, α-syn, beclin-1, LC3 B and mmu-miR-99 a-5 p expression levels were significantly increased(P<0.05). As compared with the 3 MA group, the number of activities, ChAT, TH, and p62 expression levels were significantly reduced in the low and medium dose piperine groups and rapamycin group(P<0.05); howe-ver, their first foot licking time was significantly prolonged, APP, p-tau, IL-6, TNF-α, α-syn, beclin-1, LC3 B and mmu-miR-99 a-5 p expression levels were increased significantly(P<0.05). As compared with the medopar group, the number of activities, ChAT, TH, and p62 expression levels were significantly reduced in low dose piperine group and rapamycin group(P<0.05), but their first foot licking time was significantly extended, and APP, p-tau, IL-6, TNF-α, α-syn, beclin-1, LC3 B and mmu-miR-99 a-5 p expression levels were significantly increased(P<0.05). In addition, as compared with the normal group, the small intestinal epithelial cells of the model group and the rapamycin group were shed off a lot, with severe damages of intestinal mucosa as well as edema and shedding of the small intestine villi. After administration of the therapeutic interventions, the small intestinal epithelial cells of the 3 MA group, each dose group of piperine, and the medopa group were slightly damaged and the villi were slightly shed off. In summary, piperine has a protective effect on the small intestine of PDD model mice, showing reduced expression of mmu-miR-99 a-5 p, pro-inflammatory factors and autophagy factors, and the mechanism of slowing PDD pathological symptoms may be related to the inhibition of autophagy.


Asunto(s)
Demencia , Enfermedad de Parkinson , Alcaloides , Animales , Autofagia , Benzodioxoles , Intestino Delgado , Masculino , Ratones , Piperidinas , Alcamidas Poliinsaturadas
3.
Clin Lab ; 64(7): 1233-1240, 2018 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-30146825

RESUMEN

BACKGROUND: To evaluate the performance of a chemiluminescence detection reagent for Neuron-specific enolase (NSE). METHODS: Based on the "Guiding principles on performance analysis of diagnostic, reagents in vitro" and the Clinical and Laboratory Standards Institute (CLSI) Guidelines, performance of the CLIA NSE kit was evaluated, including the detection limit, linear range, reportable range, accuracy, precision, cross reactivity, interference factors, Hook effect, and method comparison. RESULTS: The detection limit of the reagent was 0.05 ng/mL. The linear range of the reagent was 0.05 ng/mL - 400 ng/mL. The reagent can be reported as 0.05 ng/mL - 2,500 ng/mL. The recovery rate ranged from 94.95% to 105.12%. The CV of the reagent of the intra-assay was 3.8% - 5.7% and inter-batch was 3.6%, which meets the requirements. The common interference factors such as the blood fat, jaundice, and rheumatoid factor did not affect the quantitative accuracy of the reagent, but hemolysis resulted in higher readings. Cross-reactions were not observed when incubating with major interfering tumor markers; therefore, the kit was highly specific for NSE. The HOOK effect was not observed when the NSE content reached 20,000 ng/mL in samples. The coincidence rate of the reagent and Roche's products reached 94.81% and the correlation r reached 0.968. CONCLUSIONS: The performance of the NSE CLIA reagent was acceptable in all evaluated parameters, meeting requirements for clinical application.


Asunto(s)
Guías como Asunto/normas , Mediciones Luminiscentes/normas , Fosfopiruvato Hidratasa/sangre , Juego de Reactivos para Diagnóstico/normas , Humanos , Límite de Detección , Mediciones Luminiscentes/instrumentación , Mediciones Luminiscentes/métodos , Reproducibilidad de los Resultados
4.
Cell Biol Int ; 34(11): 1099-104, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20597862

RESUMEN

BI-1 (Bax inhibitor-1), an apoptosis-inhibiting gene belonging to the Bcl-2 protein family, plays an important role in mitochondrial apoptosis pathway to suppress Bax-induced apoptosis. To investigate the potential role of BI-1 in promoting cell growth and tumorigenesis, in the present study we overexpressed the BI-1 gene in NIH3T3 cells using the lentivirus-mediated gene expression system. Our in vitro studies showed that NIH3T3 cells overexpressing BI-1 displayed a significantly higher growth rate and formed more and larger colonies than the control cells. In addition, our in vivo studies indicated that the lenti-BI-1-infected cells formed obvious tumours, while no tumours were formed by the control cells after subcutaneously injected into nude mice. These results strongly suggested that the BI-1 gene might play a crucial role in neoplastic genesis and development.


Asunto(s)
Proteínas Reguladoras de la Apoptosis/metabolismo , Transformación Celular Neoplásica , Proteínas de la Membrana/metabolismo , Animales , Apoptosis , Proteínas Reguladoras de la Apoptosis/genética , Transformación Celular Neoplásica/genética , Células Cultivadas , Regulación de la Expresión Génica , Humanos , Proteínas de la Membrana/genética , Ratones , Ratones Desnudos , Células 3T3 NIH , Transfección
5.
Chinese Medical Ethics ; (6): 272-277, 2024.
Artículo en Zh | WPRIM | ID: wpr-1031334

RESUMEN

The medical education perspective of the Johns Hopkins model mainly includes the integration of clinical, teaching, and scientific research, integrating medical humanities elements and conducting elite education with small class teaching, long learning, and high elimination rates. This model has made remarkable achievements in the practice of introducing it into the field of medical education several times, and also had many positive effects on the doctor-patient relationship in the first half of the 20th century. The contemporary doctor-patient relationship has generated new negative sides, mainly including reduced trust and compliance caused by the proliferation of medical information, increased aggression in patients due to information asymmetry between doctors and patients, and conflicts arising from difficulties in doctors-patient shared decision-making. These can be mitigated by taking action through drawing on the medical education perspective of the Johns Hopkins model and transforming it into a more in line with contemporary situations, as well as taking the cultivation of medical talents as the starting point, so as to promote the improvement of doctor-patient relationship.

6.
Artículo en Zh | WPRIM | ID: wpr-1019133

RESUMEN

Objective To investigate the distribution of abnormal karyotypes and their associations with clinical manifestations of the infertile patients in southern Sichuan Province.Methods A total of 4 157 infertile patients who attended the Reproductive Medicine Center of our hospital from July 2018 to June 2021 were included.The chromosome karyotype in peripheral blood was detected by G-banding,and their semen analysis results,uterine development and other clinical data were collected.Results Among the 4 157 patients,chromosomal polymorphisms were found in 239 cases(5.75%),and abnormal karyotypes wee found 137 cases(3.30%).The abnormal karyotypes included 57 cases(41.61%)of sex chromosome aneuploidy,6 cases(4.38%)of Robertsonian transloca-tions,32 cases(23.36%)of balanced translocations,21 cases(15.33%)of chromosomal inversions,9 cases(6.57%)of mosai-cism,8 cases(5.84%)of marker chromosomes,3 cases(2.19%)of sex reversal and 1 case(0.73%)of sex chromosome deletion.In male patients with abnormal karyotypes,91.58%showed abnormal semen parameters,while in those with polymorphic karyotypes,55%had abnormal semen parameters.The patients with Turner syndrome had significantly smaller uterine dimensions(longitudinal,transverse,and anteroposterior)compared to the normal control group(P<0.01).Conclusion Chromosomal abnormalities should be the important cause of infertility.Conducting karyotype analysis combining with clinical manifestations is crucial examination for the di-agnosis and reproductive guidance of infertile patients.

7.
Journal of Medical Biomechanics ; (6): E189-E194, 2023.
Artículo en Zh | WPRIM | ID: wpr-987934

RESUMEN

Microgravity is a typical feature of the space. A large number of space flights and foundation simulation experiments have shown that cells show typical biological characteristics of aging, such as reduced cell proliferation and cell cycle arrest under microgravity or simulated microgravity. However, the molecular mechanism by which microgravity or simulated microgravity affects cellular senescence is not well understood. Understanding the mechanism controlling cellular senescence induced by microgravity environment is helpful for exploring anti-aging strategies and targeted interventions in space. In recent years, domestic and foreign scholars have carried out a number of researches and explorations on the effect of microgravity and simulated microgravity on cellular senescence as well as the related mechanisms. In this review, the latest research progress of this filed was summarized.

8.
International Journal of Surgery ; (12): 653-657, 2023.
Artículo en Zh | WPRIM | ID: wpr-1018040

RESUMEN

Objective:To explore the relationship between the relative expression of miRNA-676-3p and the survival of renal cancer patients, and its effect on the proliferation and invasion of renal cancer by targeting and regulating prefoldin 1 (PFDN1).Methods:OncoRank online software was selected to analyze the relationship between the relative expression of miRNA-676-3p and the survival rate of renal cancer patients. Real-time quantitative polymerase chain reaction (RT-qPCR) was used to detect the relative expression of miRNA-676-3p in renal cancer cell lines. Renal carcinoma CAKI1 cells were resuscitated, and the transfected miRNA-NC was used as the control group, and the transfected precursor miRNA-676-3p was used as the overexpression group. The relative expression of miRNA-676-3p was detected by RT-qPCR. The cell absorbance and invasion number of the two groups were measured by CCK-8 and Transwell invasion assays, respectively. The target gene of miRNA-676-3p was predicted and verified by referring to the TargetScan Release 8.0 website and dual-luciferase reporter gene experiment. The expression of PFDN1 gene and Wnt/β-catenin molecular pathway protein in the two groups of cells were determined by RT-qPCR and Western blotting, respectively. Measurement data were expressed as mean ± standard deviation ( ± s), t-test was used for comparison between two groups, and one-way analysis of variance was used for comparison between multiple groups. Results:The survival rate of renal cancer patients with high expression of miRNA-676-3p was significantly higher than that of renal cancer patients with low expression of miRNA-676-3p, the difference was statistically significant ( P<0.01). The relative expression of miRNA-676-3p in renal cancer cell lines was significantly lower than that in normal renal tubular epithelial cells, the difference was statistically significant ( P<0.01), and the relative expression of miRNA-676-3p in CAKI1 cells was the lowest, the difference was statistically significant ( P<0.01). The relative expression levels of miRNA-676-3p in the control and overexpression groups were 1.04±0.59 and 15.90±1.70, respectively, and the overexpression group was significantly higher than the control group, the difference was statistically significant ( P<0.01). After 24, 48, 60, and 72 h of culture, the absorbance of cells in the overexpression group was lower than that in the control group, the difference was statistically significant ( P<0.05). The number of invasion cells in the control group and the overexpression group were (115.90 ± 24.73) and (43.83 ± 21.94) cells, respectively, and the number of cell invasion in the overexpression group was significantly lower than that in the control group, the difference was statistically significant ( P<0.01). PFDN1 was the downstream target gene of miRNA-676-3p ( P<0.01). The relative expression of PFDN1 gene in the overexpression group was significantly lower than that in the control group, the difference was statistically significant ( P<0.01). The expression of Wnt/β-catenin molecular pathway proteins in the overexpression group was lower than that in the control group. Conclusions:Renal cancer patients with high expression of miRNA-676-3p had a higher survival rate. miRNA-676-3p inhibited the proliferation and invasion of renal cancer CAKI1 cells by significantly down-regulating the expression of PFDN1, thereby inhibiting the development of renal cancer.

9.
Artículo en Zh | WPRIM | ID: wpr-1019098

RESUMEN

Objective To analyze and diagnose the chromosomal genetic etiology of male patients with azoospermia or oligozoospermia,and investigate the clinical application value of combined detection of chromosomal karyotype and Y-chromosome microdeletion in azoospermia or oligozoospermia.Methods The clinical data and peripheral blood samples of 240 male patients with azoospermia or oli-gospermia in Luzhou district of Sichuan were collected.The karyotype analysis of peripheral blood lymphocytes were analyzed by G-ban-ding in conventional chromosomal culture.Multiplex PCR technology was used to detect Y chromosome microdeletions.Results A-mong the 240 male patients with azoospermia or oligospermia,179 cases of azoospermia and 61 cases of severe oligospermia were found.The detection rate of chromosome karyotype abnormalities was 22.92%(55/240),including 30 cases of chromosome number abnor-malities,21 chromosome structure abnormalities and 4 combined abnormalities.The detection rate of Y chromosome microdeletion ab-normalities was 10.42%(25/240)with the highest deletion rate of 7.08%for AZFc abnormalities.The combined detection rate for the abnormalities of karyotype and Y chromosome microdeletion was 30.83%(74/240),among which 6 patients showed abnormalities in both detections.The detection rate of combined detections by the two methods was higher than that of single method(x2=30.24,P<0.001).Conclusion This study systematically reported the incidence and types of karyotypes and Y chromosome microdeletions in male azoospermia or oligospermia patients in Luzhou district of Sichuan.We suggest that the combined application of the two methods may improve the detection rate of abnormality,which provides important guidance for the etiological diagnosis of male infertility pa-tients,genetic counseling and reproductive therapy.

10.
Artículo en Zh | WPRIM | ID: wpr-982761

RESUMEN

Objective:To compare the clinical value of visual analogue scale (VAS), Lebel scale and total nasal symptom scores (TNSS) in evaluating nasal allergen provocation test (NAPT). Methods:A total of 151 patients suspected of allergic rhinitis admitted to the Department of Otolaryngology-Head and Neck Surgery of our hospital from April 2020 to September 2020 were included, of which 76 were positive for house dust mites and 75 were negative for allergens. Nasal airway resistance(NAR) was measured by active anterior nasal manometry. Nasal symptoms were evaluated by VAS, Lebel and TNSS. House dust mite allergen was used for NAPT by spray method. An increase≥40% in NAR was used as the gold standard for objective evaluation of NAPT. ROC curves of VAS, Lebel and TNSS were drawn to compare the evaluation effectiveness of different subjective evaluation methods, and the optimal critical point of each ROC curve was obtained. Results:With NAR increased by ≥40% as the gold standard, the area under ROC curve of VAS was 0.884, and the sensitivity and specificity were 97.75% and 80.65%, respectively. The area under ROC curve of Lebel was 0.773, and the sensitivity and specificity were 68.54% and 75.81%, respectively. The area under ROC curve of TNSS was 0.792, and the sensitivity and specificity were 68.54% and 79.03%, respectively. There was no significant difference between Lebel and TNSS(P>0.05). The VAS differed significantly from Lebel and TNSS(P<0.05). The Kappa values of VAS, Lebel, TNSS and NAR were 0.803, 0.432 and 0.459, respectively. Conclusion:The VAS, Lebel, TNSS subjective scale and NAR are consistent in evaluating the efficacy of NAPT, with the VAS assessment showing highest consistency with NAR. As objective assessment instruments are not widely used in China, subjective assessment method could be adopted to evaluate the efficacy of NAPT in clinical practice, and VAS scale is recommended as a priority.


Asunto(s)
Animales , Humanos , Alérgenos , Pruebas de Provocación Nasal/métodos , Rinitis Alérgica/diagnóstico , Nariz , Pyroglyphidae
11.
Artículo en Zh | WPRIM | ID: wpr-1046292

RESUMEN

The study was aimed to analyze the seasonal pollen allergen spectrum of patients with allergic rhinitis (AR) in Nanchang city, and to provide evidence for improving the clinical diagnosis, treatment, prevention and epidemiology of seasonal AR. A retrospective analysis was conducted on the results of skin prick test (SPT) among 1 752 patients with AR in outpatient at Department of Otolaryngology, the First Affiliated Hospital of Nanchang University from September 2020 to August 2021 (a total of 1 069 males and 683 females, age ranged from 2 to 84 years old). SPSS 22.0 software was used to analyze the positive rates of main allergens and their differences in gender, age, and month of visit. Differences among groups were compared by student t test, Wilcox rank sum test, or χ2 test. The results showed that among 1 752 SPT-positive patients, the number of simple seasonal AR and the number of perennial combined seasonal AR were 102 (5.82%) and 281 (16.04%), respectively. There was no significant difference between male and female patients in positive seasonal pollen allergens (χ2=2.181, P>0.05), but the positive rate of indoor seasonal pollen allergens in males was higher than that in females (χ2=7.901, P<0.05). The seasonal pollen allergens ranking top 5 of the positive rates were willow (6.62%, 116/1 752), humulus scandens (5.71%, 100/1 752), rape (5.54%, 97/1 752), grey pigweed (4.62%, 81/1 752) and birch (3.60%, 63/1 752). The positive rates of indoor and seasonal pollen allergens increased first and then decreased in different age groups, and the highest positive rates of seasonal pollen allergens were in the age group of 31-40 years old, with statistical significance compared with other groups (χ2=61.269, P<0.05). The seasonal allergen positive rate showed two peaks in time: March to May and September to November. The positive rate of pollen in spring was 60.27% (132/219), which was significantly higher than that in autumn (39.73%,87/219) (χ2=9.247, P<0.05). The positive rate of pollen combination in spring and autumn was 68.29% (112/164), which was significantly higher than that in spring and autumn alone (18.9%,31/164) and (12.8%, 21/164) (χ2=14.731, P<0.05). In summary, pollen allergy in Nanchang City cannot be ignored, accounting for more than 20% of the total number of AR. The incidence of seasonal AR in Nanchang City showed two peaks (March to May and September to November). The common allergens for seasonal AR in Nanchang City were willow, humulus scandens, rape, grey chenopods and birch.


Asunto(s)
Humanos , Femenino , Masculino , Adulto , Preescolar , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Estaciones del Año , Rinitis Alérgica , Polen , Hospitales , Alérgenos
12.
Artículo en Zh | WPRIM | ID: wpr-1045969

RESUMEN

The study was aimed to analyze the seasonal pollen allergen spectrum of patients with allergic rhinitis (AR) in Nanchang city, and to provide evidence for improving the clinical diagnosis, treatment, prevention and epidemiology of seasonal AR. A retrospective analysis was conducted on the results of skin prick test (SPT) among 1 752 patients with AR in outpatient at Department of Otolaryngology, the First Affiliated Hospital of Nanchang University from September 2020 to August 2021 (a total of 1 069 males and 683 females, age ranged from 2 to 84 years old). SPSS 22.0 software was used to analyze the positive rates of main allergens and their differences in gender, age, and month of visit. Differences among groups were compared by student t test, Wilcox rank sum test, or χ2 test. The results showed that among 1 752 SPT-positive patients, the number of simple seasonal AR and the number of perennial combined seasonal AR were 102 (5.82%) and 281 (16.04%), respectively. There was no significant difference between male and female patients in positive seasonal pollen allergens (χ2=2.181, P>0.05), but the positive rate of indoor seasonal pollen allergens in males was higher than that in females (χ2=7.901, P<0.05). The seasonal pollen allergens ranking top 5 of the positive rates were willow (6.62%, 116/1 752), humulus scandens (5.71%, 100/1 752), rape (5.54%, 97/1 752), grey pigweed (4.62%, 81/1 752) and birch (3.60%, 63/1 752). The positive rates of indoor and seasonal pollen allergens increased first and then decreased in different age groups, and the highest positive rates of seasonal pollen allergens were in the age group of 31-40 years old, with statistical significance compared with other groups (χ2=61.269, P<0.05). The seasonal allergen positive rate showed two peaks in time: March to May and September to November. The positive rate of pollen in spring was 60.27% (132/219), which was significantly higher than that in autumn (39.73%,87/219) (χ2=9.247, P<0.05). The positive rate of pollen combination in spring and autumn was 68.29% (112/164), which was significantly higher than that in spring and autumn alone (18.9%,31/164) and (12.8%, 21/164) (χ2=14.731, P<0.05). In summary, pollen allergy in Nanchang City cannot be ignored, accounting for more than 20% of the total number of AR. The incidence of seasonal AR in Nanchang City showed two peaks (March to May and September to November). The common allergens for seasonal AR in Nanchang City were willow, humulus scandens, rape, grey chenopods and birch.


Asunto(s)
Humanos , Femenino , Masculino , Adulto , Preescolar , Niño , Adolescente , Adulto Joven , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Estudios Retrospectivos , Estaciones del Año , Rinitis Alérgica , Polen , Hospitales , Alérgenos
13.
Artículo en Zh | WPRIM | ID: wpr-981775

RESUMEN

OBJECTIVE@#To provide prenatal diagnosis, pedigree analysis and genetic counseling for a pregnant woman who had given birth to a child featuring global developmental delay.@*METHODS@#A pregnant woman who underwent prenatal diagnosis at the Affiliated Hospital of Southwest Medical University in August 2021 was selected as the study subject. Peripheral blood samples were collected from the woman, her husband and child, in addition with amniotic fluid sample during mid-pregnancy. Genetic variants were detected by G-banded karyotyping analysis and copy number variation sequencing (CNV-seq). Pathogenicity of the variant was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Candidate variant was traced in the pedigree to assess the recurrence risk.@*RESULTS@#The karyotypes of the pregnant woman, her fetus, and affected child were 46,XX,ins(18)(p11.2q21q22), 46,X?,rec(18)dup(18)(q21q22)ins(18)(p11.2q21q22)mat and 46,XY,rec(18)del(18)(q21q22)ins(18)(p11.2q21q22)mat, respectively. Her husband was found to have a normal karyotype. CNV-seq has revealed a 19.73 Mb duplication at 18q21.2-q22.3 in the fetus and a 19.77 Mb deletion at 18q21.2-q22.3 in her child. The duplication and deletion fragments were identical to the insertional fragment in the pregnant woman. Based on the ACMG guidelines, the duplication and deletion fragments were both predicted to be pathogenic.@*CONCLUSION@#The intrachromosomal insertion of 18q21.2-q22.3 carried by the pregnant woman had probably given rise to the 18q21.2-q22.3 duplication and deletion in the two offspring. Above finding has provided a basis for genetic counseling for this pedigree.


Asunto(s)
Niño , Femenino , Humanos , Embarazo , Masculino , Variaciones en el Número de Copia de ADN , Pueblos del Este de Asia , Linaje , Diagnóstico Prenatal/métodos , Cromosomas Humanos Par 18/genética , Feto , Mutación INDEL
14.
Acta Pharmaceutica Sinica ; (12): 3040-3048, 2023.
Artículo en Zh | WPRIM | ID: wpr-999066

RESUMEN

In this study, the ovarian surgery (ovariectomy, OVX) was used to establish the osteoporosis mice model of primary menstruation, in order to evaluate the protective effects and mechanisms of Zhibai Dihuang decotion on postmenopausal osteoporosis (PMOP). The animal experimental protocol has been reviewed and approved by Laboratory Animal Ethics Committee of Jinan University (number: 20210315-03), in compliance with the Institutional Animal Care Guidelines. C57BL/6 mice were divided into five groups, including Sham group, OVX group, low (32 g·kg-1·day-1) and high dose (64 g·kg-1·day-1) of Zhibai Dihuang decotion groups, positive drug group (alendronate, 9.9 mg·kg-1·q3d). After modeling, mice were given medication intervention for 8 weeks, and then femoral and tibial tissues were taken to detect indicators such as bone microstructure, bone resorption, and oxidative stress. The experimental results showed that after Zhibai Dihuang decotion administration, the bone microstructure damage caused by OVX surgery was alleviated, and the relevant parameters bone mineral density (BMD), bone volume/total volume (BV/TV), trabecular number (Tb. N) and connectivity density (Conn. D) both significantly increased. At the same time, the number of TRAP positive osteoclasts decreased significantly, and the levels of proteins and genes related to osteoclast differentiation decreased, indicating that Zhibai Dihuang decoction could inhibit the increased activity of osteoclast caused by OVX. Afterwards, network pharmacology was used to construct the active compound action target network of Zhibai Dihuang decotion, and it was found that the target genes of its active ingredients were closely related to the oxidative stress pathway. Finally, the detection results of oxidative stress levels in bone tissues showed that after treatment with Zhibai Dihuang decotion, the levels of oxidative stress products 4-hydroxynonenal (4-HNE) and malondialdehyde (MDA) in bone tissues of mice significantly decreased, while the levels of antioxidant stress substance L-glutathione (GSH) increased. These above results indicated that Zhibai Dihuang decotion can regulate the level of oxidative stress in the body and inhibit osteoclast activity, which played a therapeutic role in PMOP, as well as provided theoretical basis for the prevention and treatment of PMOP with traditional Chinese medicine.

15.
Acta Anatomica Sinica ; (6): 461-469, 2022.
Artículo en Zh | WPRIM | ID: wpr-1015306

RESUMEN

[Abstract] Objective To investigate the effect of wingless-type MMTV integration site family member 5b(Wnt5b) gene overexpression mediated by recombinant adenovirus on the differentiation of mouse embryonic liver stem cells and repair of chronic liver injury in mice. Methods Recombinant adenoviruses expressing Wnt5b and green fluorescent protein (GFP) were applied respectively to infect mouse fetal liver stem cells HP14-19, and induced its differentiation and verified the expression of Wnt5b through Real-time PCR and Western blotting. It also applied indocyanine grean(ICG) uptake experiment and periodic acid-schiff(PAS) staining to detect the differentiation ability of HP14-19 into hepatocyte-like cells. The Real-time PCR was chosen to detect hepatocyte markers albumin (Alb) and cytokeratin 18 (CK18) expression. Forty-eight experimental male BALB/ c mice were randomly divided into control group, model group, stem cell treatment group and Wnt5b modified stem cell treatment group. The carbon tetrachloride(CCl

16.
Acta Anatomica Sinica ; (6): 488-497, 2022.
Artículo en Zh | WPRIM | ID: wpr-1015317

RESUMEN

Objective To investigate the effect of knock⁃down 3⁃phosphoglycerin dehydrogenase (PHGDH) targeting energy metabolism on malignant biological behavior and osteogenic differentiation of human osteosarcoma 143B cells. Methods Real⁃time PCR and Western blotting were used to detect the expression of PHGDH in osteoblasts hFOB1. 19 and osteosarcoma cells TE85, MG63 and 143B with different malignant degrees. The short hairpin RNA (shRNA)⁃PHGDH recombinant plasmid was transfected into 143 B cells by liposome transfection method. The expression of PHGDH was detected by Real⁃time PCR and Western blotting. Crystal violet staining, cell counting and CCK⁃8 assay were used to detect cell proliferation; wound healing assay was used to detect cell parallel migration ability, and Transwell assay was used to detect cell vertical migration and invasion ability. Annexin V⁃FITC/ PI double staining and DAPI staining were used to detect apoptosis; Alkaline phosphatase(ALP) staining and alizarin red S staining were used to detect osteogenic differentiation. Western blotting was used to detect the expression of Runt related transcription factor 2 (Runx2) and osteocalcin (OC) . The expression of genes related to energy metabolism, glucose transporter⁃1 (GLUT1), 6⁃ phosphofructokinase⁃1(PFK1), pyruvate kinae subtype M2 (PKM2), lactate dehydrogenase A (LDHA) was detected by Real⁃time PCR. Lactic acid secretion was detected by lactic acid detection kit. Adenosine triphosphate(ATP) production was detected by ATP detection kit. Results The expression of PHGDH in 143B cells was significantly higher than that in hFOB1. 19, MG63 and TE85 cells (P < 0. 01) . After the transfection of shRNA⁃PHGDH recombinant plasmid, the expression of PHGDH in 143 B cells decreased (P<0. 01), proliferation ability decreased (P<0. 01), cell migration and invasion ability decreased (P < 0. 01), apoptosis rate increased (P < 0. 01), ALP staining positive rate increased (P < 0. 01), alizarin red staining positive rate increased (P < 0. 05), Runx2 (P < 0. 05) and OC expression increased (P < 0. 01), expression of genes related to energy metabolism (GLUT1, PFK1, PKM2, LDHA) decreased (P < 0. 01), lactic acid decreased (P < 0. 01), ATP increased (P < 0. 05) . Conclusion Knocking down of PHGDH can inhibit the proliferation, migration and invasion of human osteosarcoma 143B cells through energy metabolism, promote their apoptosis and promote their osteogenic differentiation.

17.
International Eye Science ; (12): 1592-1594, 2022.
Artículo en Zh | WPRIM | ID: wpr-940030

RESUMEN

AIM:A total of 1 084 preschool children in 4 kindergartens in Xining City were surveyed on their visual acuity and refraction status to find out abnormal vision and refraction beyond the normal range. METHODS: A cross-sectional survey study. The overall sampling method was used on October 2019, a total of 1 084 preschool children aged 3-6 years were selected from a kindergarten in the east, west, south and north of Xining City. The children were checked for uncorrected distance vision and refractive status was checked by using a refractive screener.RESULTS: The detection rate of abnormal vision in preschool children in Xining City was 12.21%, and the detection rate of abnormal vision increased with the increasing age(χ2lineartrend=94.40, P&#x003C;0.05), and there were differences among different age groups(χ2=293.55, P&#x003C;0.05). Refractive abnormalities accounted for 6.09% of the total number of examinations. With the increasing age, the proportion of compound hyperopic astigmatism decreased(χ2lineartrend=1.79, P&#x003E;0.05).CONCLUSION: The abnormal visual acuity of preschool children in Xining City gradually increases with the increasing age; The refractive state is dominated by astigmatism, among which the proportion of mixed astigmatism and pure myopia astigmatism is the highest, followed by pure hyperopic astigmatism and compound hyperopic astigmatism; With the increase of age, the diopter of compound hyperopic astigmatism gradually decreases, which is in line with the law of children's eye refractive development.

18.
Chinese Pharmacological Bulletin ; (12): 1121-1127, 2022.
Artículo en Zh | WPRIM | ID: wpr-1014022

RESUMEN

Coronary heart disease (CHI)) is a kind of coronary atheroselerotie cardiovascular disease that seriously endangers human health and needs to he solved urgently in the world.Epidemiological

19.
Artículo en Inglés | WPRIM | ID: wpr-915752

RESUMEN

Background/Aims@#Antidepressants are effective in patients with functional dyspepsia (FD). However, stigma associated with FD and antidepressants may affect treatment adherence. This study aims to explore possible communication strategies to alleviate stigma and improve adherence in patients with FD. @*Methods@#In this randomized, single-center, and single-blind trial, 160 patients with FD initiating antidepressant treatment were recruited. Different communication strategies were performed when prescribing antidepressants. Participants in Group 1 were told that brain is the “headquarters” of gut, and that antidepressants could act as neuromodulators to relieve symptoms of FD through regulating the functions of gut and brain. Participants in Group 2 were told that antidepressants were empirically effective for FD. Stigma scores, medication-related stigma, treatment compliance, and efficacy were analyzed. @*Results@#After 8-week antidepressant treatment, the proportion of patients with FD with decreased stigma scores in Group 1 was significantly higher than in Group 2 (internalized stigma: 64.10% vs 12.00%; perceived stigma: 55.13% vs 13.33%; P < 0.01). Medication-related stigma was lower in Group 1 than in Group 2 (P < 0.05 for 3 of 4 questions). Concurrently, patients in Group 1 had better treatment compliance (0.71 ± 0.25 vs 0.60 ± 0.25, P < 0.01) and efficacy. In Group 1, participants with decreased post-treatment stigma scores showed better treatment compliance and efficacy than those with non-decreased scores. Decrease in stigma scores positively correlated with treatment compliance. @*Conclusion@#Improving knowledge of patients with FD of the disease and antidepressants via proper communication may be an effective way to alleviate stigma and promote adherence.

20.
Journal of Medical Biomechanics ; (6): E659-E663, 2021.
Artículo en Zh | WPRIM | ID: wpr-904452

RESUMEN

In the process of tumor growth, with the proliferation and expansion of cancer cells, the reconstruction of extracellular matrix (ECM) of cancer tissues, the restriction of surrounding tissues and the flow of cancer tissue interstitial fluid, the special stress environment is formed in the tumor tissues. Significant differences are found in the mechanical environment and mechanical characteristics of different regions of tumor tissues, that is, mechanical heterogeneity. The reseach shows that the mechanical properties of tumor tissue invasion frontier areas are more significant and complex. In particular, the epithelial-mesenchymal transition (EMT) of tumor cells also prefers to concentrate on this area. The mechanical stress generated by the invasion front can induce EMT of tumor cells through TWIST1, TGF-β, WNT and other force signal transduction pathways, and promote tumor cell invasion. From the perspective of tumor biomechanics, this review focuses on the relationship between mechanical heterogeneity of tumor cells and EMT, so as to provide the theoretical basis for mechanoenvironment-targeted therapy of tumors.

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