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1.
Chinese Medical Journal ; (24): 1207-1215, 2023.
Artículo en Inglés | WPRIM | ID: wpr-980845

RESUMEN

BACKGROUND@#LY01005 (Goserelin acetate sustained-release microsphere injection) is a modified gonadotropin-releasing hormone (GnRH) agonist injected monthly. This phase III trial study aimed to evaluated the efficacy and safety of LY01005 in Chinese patients with prostate cancer.@*METHODS@#We conducted a randomized controlled, open-label, non-inferiority trial across 49 sites in China. This study included 290 patients with prostate cancer who received either LY01005 or goserelin implants every 28 days for three injections. The primary efficacy endpoints were the percentage of patients with testosterone suppression ≤50 ng/dL at day 29 and the cumulative probability of testosterone ≤50 ng/dL from day 29 to 85. Non-inferiority was prespecified at a margin of -10%. Secondary endpoints included significant castration (≤20 ng/dL), testosterone surge within 72 h following repeated dosing, and changes in luteinizing hormone, follicle-stimulating hormone, and prostate specific antigen levels.@*RESULTS@#On day 29, in the LY01005 and goserelin implant groups, testosterone concentrations fell below medical-castration levels in 99.3% (142/143) and 100% (140/140) of patients, respectively, with a difference of -0.7% (95% confidence interval [CI], -3.9% to 2.0%) between the two groups. The cumulative probabilities of maintaining castration from days 29 to 85 were 99.3% and 97.8%, respectively, with a between-group difference of 1.5% (95% CI, -1.3% to 4.4%). Both results met the criterion for non-inferiority. Secondary endpoints were similar between groups. Both treatments were well-tolerated. LY01005 was associated with fewer injection-site reactions than the goserelin implant (0% vs . 1.4% [2/145]).@*CONCLUSION@#LY01005 is as effective as goserelin implants in reducing testosterone to castration levels, with a similar safety profile.@*TRIAL REGISTRATION@#ClinicalTrials.gov, NCT04563936.


Asunto(s)
Humanos , Masculino , Antineoplásicos Hormonales/uso terapéutico , Pueblos del Este de Asia , Hormona Liberadora de Gonadotropina/agonistas , Goserelina/uso terapéutico , Antígeno Prostático Específico , Neoplasias de la Próstata/tratamiento farmacológico , Testosterona
2.
International Eye Science ; (12): 1362-1366, 2023.
Artículo en Chino | WPRIM | ID: wpr-978634

RESUMEN

AIM: To observe the clinical efficacy of Yishen Yanggan Mingmu formula combined with anti-vascular endothelial growth factor(VEGF)in the treatment of wet age-related macular degeneration(wARMD).METHODS: A total of 58 patients(58 eyes)with wARMD who were treated in Ningbo Eye Hospital from September 2020 to November 2022 were collected. They were divided into two groups according to randomized digital table: 29 patients(29 eyes)for the combination group and the other 29 patients(29 eyes)for the injection group. The injection group was only given intravitreal injection of conbercept; the combination group was orally administrated with Yishen Yanggan Mingmu formula combined with intravitreal injection of conbercept. The best corrected visual acuity(BCVA), central macular thickness(CMT)and the improvement of traditional Chinese medicine(TCM)syndromes after 3mo of treatment were observed and the clinical efficacy was evaluated.RESULTS: After 3mo of treatment, the total improved effective rate of the combination group(76%)was higher than the rate of the injection group(66%). After the treatment, the BCVA of the two groups was both higher than that before treatment(P<0.05), the CMT in both groups was lower than that before the treatment(P<0.05), and the improvement of CMT of the combination group was better than the injection group(-155.93±143.79μm vs. -95.36±56.81μm, P<0.05). After 3mo of treatment, each kinds of TCM syndrome in the combination group were significantly improved compared with those syndromes before the treatment(P<0.001). In the injection group, only blurred vision was improved(P<0.05). After the treatment, the scores of dizziness and insomnia, soreness and weakness of waist and knees, paleness and cold limbs, dry eyes and fatigue in the combination group were significantly lower than the injection group(P<0.001).CONCLUSIONS: The Yishen Yanggan Mingmu formula combined with intravitreal anti-VEGF drug injection is effective in the treatment of wARMD.

3.
Journal of China Pharmaceutical University ; (6): 399-409, 2023.
Artículo en Chino | WPRIM | ID: wpr-987659

RESUMEN

@#Ischemic stroke is a major disease affecting human health, and its pathological mechanism has not been fully elucidated. Microglia are important immune cells in the central nervous system, and participate in the pathological process of ischemic stroke.Following an ischemic stroke, a surge in activated microglia occurs, migrating and congregating within the afflicted regions.These microglia engulf deceased cells or fragments, releasing inflammatory or nutritive factors, thereby participating in the pathogenesis of ischemic stroke.The phagocytosis of microglia plays an important role in cerebral ischemic injury and rehabilitation. This article summarizes the molecular mechanism of microglial phagocytosis and reviews the research progress of microglial phagocytosis in ischemic stroke, and discusses the diversity and complexity of microglial phagocytosis in cerebral ischemic injury and rehabilitation, so as to provide new ideas for the treatment and drug development of ischemic stroke.

4.
China Journal of Chinese Materia Medica ; (24): 256-264, 2023.
Artículo en Chino | WPRIM | ID: wpr-970521

RESUMEN

Currently,the research or publications related to the clinical comprehensive evaluation of Chinese patent medicine are increasing,which attracts the broad attention of all circles. According to the completed clinical evaluation report on Chinese patent medicine,there are still practical problems and technical difficulties such as unclear responsibility of the evaluation organization,unclear evaluation subject,miscellaneous evaluation objects,and incomplete and nonstandard evaluation process. In terms of evaluation standards and specifications,there are different types of specifications or guidelines with different emphases issued by different academic groups or relevant institutions. The professional guideline is required to guide the standardized and efficient clinical comprehensive evaluation of Chinese patent medicine and further improve the authority and quality of evaluation. In combination with the characteristics of Chinese patent medicine and the latest research achievement at home and abroad,the detailed specifications were formulated from six aspects including design,theme selection,content and index,outcome,application and appraisal,and quality control. The guideline was developed based on the guideline development requirements of China Assoication of Chinese medicine. After several rounds of expert consensus and public consultation,the current version of the guideline has been developed.


Asunto(s)
Medicina Tradicional China , Medicamentos sin Prescripción , Consenso , China , Estándares de Referencia , Medicamentos Herbarios Chinos
5.
Chinese Journal of Urology ; (12): 40-45, 2022.
Artículo en Chino | WPRIM | ID: wpr-933159

RESUMEN

Objective:To compare the diagnostic efficacy of 18F-prostate specific membrane antigen (PSMA)-1007 PET/CT and mpMRI in the diagnosis of pelvic lymph node metastasis of prostate cancer (PCa). Methods:The clinical data of 30 patients who underwent 18F-PSMA-1007 PET/CT and mpMRI examinations in Sichuan Cancer Hospital from November 2018 to April 2021 were analyzed. The average age was (68.4±6.4) years old. The preoperative total PSA was 45.70(16.07, 100.00)ng/ml. Among 30 patients, 14 cases were found lymph node positive by PET/CT and 7 cases were found lymph node positive by mpMRI.Combined with the two preoperative imaging methods and the patient's PSA level, there was 1 patient in stage T 1, 20 patients in stage T 2, 6 patients in stage T 3, and 3 patients in stage T 4. Twenty-nine cases were classified as high risk group and one case was in moderate risk group.All 30 patients underwent laparoscopic radical prostatectomy and enlarged pelvic lymph node dissection (ePLND). According to the postoperative pathological results, the sensitivity, specificity, positive predictive value and negative predictive value of the two imaging techniques for the diagnosis of PCa pelvic lymph node metastasis were calculated, and the consistency of the two imaging techniques for the postoperative pathological results was observed by Kappa test. Results:All the 30 patients were confirmed to be PCa by postoperative pathology, among which 10 patients were positive for pelvic lymph node biopsy. The sensitivity, specificity, positive predictive value and negative predictive value of 18F-PSMA-1007 PET/CT for pelvic lymph node metastasis were 100.0% (10/10), 80.0% (16/20), 71.4%(10/14) and 100.0%(16/16) respectively, and Kappa value was 0.727. The sensitivity and specificity of mpMRI were 70.0% (7/10) and 100.0% (20/20), the positive and negative predictive values were 100.0% (7/7) and 87.0%(20/23)respectively, and the Kappa value was 0.757. The P values of sensitivity, specificity, positive predictive value and negative predictive value between the two imaging methods were 0.18, 0.07, 0.30, <0.01, respectively. The sensitivity, specificity, positive predictive value and negative predictive value of 18F-PSMA-1007 PET/CT in diagnosing the number of pelvic lymph node metastasis were 100%(28/28), 98.2% (373/380), 80.0% (28/35) and 100.0%(373/373), respectively. The sensitivity, specificity, positive predictive value and negative predictive value of mpMRI in diagnosing the number of pelvic lymph node metastasis were 78.6% (22/28), 100.0% (380/380), 100.0% (22/22) and 98.4%(380/386), respectively. The P values of the sensitivity, specificity, positive predictive value and negative predictive value of lymph node detection by the two imaging methods were all <0.01, and the differences were statistically significant. Conclusions:The sensitivity and negative predictive value of 18F-PSMA-1007 PET/CT for the detection of positive lymph node were higher than mpMRI. The specificity and positive predictive value of mpMRI in detecting positive lymph node metastasis were higher than 18F-PSMA-1007 PET/CT examination.

6.
Acta Pharmaceutica Sinica ; (12): 2791-2797, 2022.
Artículo en Chino | WPRIM | ID: wpr-941497

RESUMEN

Anemoside B4 (B4), a main triterpenoid saponin from a traditional Chinese medicine plant, Pulsatilla chinensis, is a novel anti-inflammatory agent for protection from acute lung injury. We investigated the pulmonary availability and anti-inflammatory efficacy of B4 after intratracheal and intravenous dosing with a view to evaluating the suitability of inhalation delivery. All animal studies were performed under the guidelines approved by the Animal Care and Use Committee of Institute of Medicinal Plant Development, Chinese Academy of Medical Sciences (Approval No: SLXD-20181113046). In vitro evaluation of the aerodynamic characteristics and droplet size distribution showed that the aerosols generated by a commercially available nebulizer were well deposited in the respiratory tract. Following intratracheal administration, B4 underwent pulmonary absorption into the bloodstream, rendering an absolute bioavailability of 103%. Compared to intravenous delivery, intratracheal administration dramatically increased the drug availability in lung tissue of rats by more than 1 000-fold, leading to improved and prolonged concentrations of B4 in lung tissue up to 48 h. In addition, the intratracheal administration of B4 resulted in dose-dependent and prolonged anti-inflammatory efficacy in a lipopolysaccharide (LPS)-induced lung injury model in mice. The present results demonstrate that inhalation delivery of B4 is a promising approach to treat pulmonary inflammation with once-daily dosing.

7.
Chinese Journal of Contemporary Pediatrics ; (12): 425-430, 2021.
Artículo en Chino | WPRIM | ID: wpr-879871

RESUMEN

As one of the most important non-nutritional factors associated with children's growth and development, feeding problems in children are getting more and more attention from medical professionals and guardians. The evaluation of feeding problems has developed from the single-factor and descriptive research in the past to the multi-factor and analytical research at present, and thus a good quantitative analysis system is increasingly important for researchers. However, the development of localized quantitative analysis tools remains a weak link in this field. Therefore, it is a research hotspot to develop child feeding assessment scales and questionnaires with high reliability, validity, and operability in combination with China's cultural background and eating habits and provide effective assessment tools for feeding problems in Chinese children. Through classification based on research mode and screening, this article reviews the research findings in the field of child feeding, so as to provide a basis for future research.


Asunto(s)
Niño , Humanos , Conducta Alimentaria , Relaciones Padres-Hijo , Reproducibilidad de los Resultados , Encuestas y Cuestionarios
8.
Journal of China Pharmaceutical University ; (6): 751-758, 2021.
Artículo en Inglés | WPRIM | ID: wpr-906770

RESUMEN

@#As a key component of glutamatergic system, metabotropic glutamate receptor 5 (mGluR5) has been extensively involved in the regulation of physiological processes such as synaptic transmission, synaptic plasticity and synaptic excitation/inhibition balance.Over the past few decades, mGluR5 has been found to be closely related to multiple neurological and psychiatric disorders, thus it is of considerable interest as a drug target in the treatment of such disorders.This review summarizes the structure and distribution of mGluR5, its normal physiological function, its pathological roles in related central nervous system (CNS) diseases, as well as the current status of its drug development, in order to provide reference for further investigation.

9.
Chinese Journal of Gastrointestinal Surgery ; (12): 54-61, 2021.
Artículo en Chino | WPRIM | ID: wpr-942864

RESUMEN

Objective: To investigate the feasibility and advantages of the SILS+1 technique in the radical right hemicolectomy, by comparing the short-term efficacy, postoperative recovery of intestinal function, and stress and inflammatory response of patients with right-sided colon cancer undergoing the conventional 5-hole laparoscopic technique or the single incision plus one port laparoscopic surgery (SILS+1). Methods: A retrospective cohort study was performed. Thirty-five patients with right-sided colon cancer undergoing SILS+1 surgery at Department of Gastrointestinal Surgery of Fujian Cancer Hospital from January 2018 to September 2020 were enrolled in the SILS+1 group. Then a total of 44 patients who underwent completely 5-hole laparoscopic right hemicolectomy at the same time were selected as the conventional laparoscopic surgery (CLS) group. The intraoperative observation indexes (operative time, intraoperative blood loss, and incision length) and postoperative observation indexes (time to ambulation after surgery, time to flatus, pain score in the first 3 days after surgery, hospitalization days, number of lymph node dissections, postoperative complication morbidity, and postoperative total protein, albumin and C-reaction protein) were compared between the two groups. Results: There was no conversion to laparotomy or laparoscopic-assisted surgery in both groups. All the patients successfully completed radical right hemicolectomy under total laparoscopy. There were no statistically significant differences in gender, age, body mass index or tumor stage between the two groups (all P>0.05). Compared with the CLS group, the SILS+1 group had shorter incision length [(5.1±0.6) cm vs. (8.5±4.1) cm, t=4.124, P=0.012], shorter time to the first ambulation (median: 27.6 h vs. 49.3 h, Z=4.386, P=0.026), and shorter time to the first flatus (median:42.8 h vs. 63.2 h, Z=13.086, P=0.012), lower postoperative pain score [postoperative 1-d: 2.0 ± 1.1 vs. 3.6 ± 0.9; postoperative 2-d: 1.4 ± 0.2 vs. 2.9±1.4; postoperative 3-d: 1.1 ± 0.1 vs. 2.3±0.3, F=49.128, P=0.003), shorter postoperative hospital stay [(9.1 ± 2.7) d vs. (11.2 ± 2.2) d, t=3.267,P=0.001], which were all statistically significant (all P<0.05). On the second day after surgery, as compared to CLS group, SILS+1 group had higher total protein level [(59.7±18.2) g/L vs. (43.0±12.3) g/L, t=2.214, P=0.003], higher albumin level [(33.6±7.3) g/L vs. (23.7±5.4) g/L, t=5.845, P<0.001], but lower C-reactive protein level [(16.3 ± 3.1) g/L vs. (63.3 ± 4.5) g/L, t=4.961, P<0.001], which were all statistically significant. There were no significant differences in the operative time, intraoperative blood loss, number of harvested lymph node, number of metastatic lymph node, and postoperative complication morbidity (all P>0.05). Conclusions: The SILS+1 technique has good operability and potential for popularization. Under the premise of radical resection, this technology not only reduces incision number and postoperative physical pain, but also speeds up postoperative recovery and shortens hospital stay.


Asunto(s)
Humanos , Colectomía/métodos , Neoplasias del Colon/cirugía , Estudios de Factibilidad , Laparoscopía/métodos , Tiempo de Internación , Tempo Operativo , Estudios Retrospectivos , Resultado del Tratamiento
10.
China Journal of Chinese Materia Medica ; (24): 5421-5428, 2020.
Artículo en Chino | WPRIM | ID: wpr-878776

RESUMEN

Pyrrolizidine alkaloids(PAs) are a group of naturally occurring alkaloids with a pyrrolizidine skeleton which can be found in about 3% of the world's flowering plants. It is notorious that PAs are cause the hepatoxic and genotoxic-carcinogenic effects by taking PA-containing herbs, food and dietary supplements. In order to control the poisoning caused by PAs, European Medicines Agency has set a limit of intake of PAs from herbal medicinal products at 0.007 μg of 1,2-unsaturated PAs/kg body weight. Nonetheless, a systematic overview of the amount of PAs in the herb has not been provided. Therefore, this paper is to systematically review the current status of PAs content analysis of herbal medicines and foods reported in the literature, and to provide theoretical and experimental support for the safety risk assessment and control of PAs in Chinese herbal medicines.


Asunto(s)
Alimentos , Medicina de Hierbas , Fitoterapia , Plantas Medicinales , Alcaloides de Pirrolicidina/toxicidad
11.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 155-162, 2020.
Artículo en Chino | WPRIM | ID: wpr-862707

RESUMEN

<b>Objective::To establish an ultra-high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) for the simultaneous determination of 15 pyrrolidine alkaloids (PAs) and their nitrogen oxides, and determine the content of the 15 PAs in the 15 batches of Farfarae Flos samples obtained from different sources, in order to understand the distribution status of these 15 PAs in Farfarae Flos from different sources, and provide relevant references for the safe and rational use of this medicinal materials. <b>Method::The method was achieved by Agilent Eclipse Plus C<sub>18</sub> column (3.0 mm×150 mm, 1.8 μm) using a mobile phase made up of 0.05%formic acid and 2.5 mmol·L<sup>-1</sup> ammonium formate in water (A)-0.05%formic acid and 2.5 mmol·L<sup>-1</sup> ammonium formate in methanol(B). The flow rate and the injection volume were 0.4 mL·min<sup>-1</sup> and 2 μL, respectively. The column temperature was 40 ℃. The instrument was Agilent 1290-6470 QQQ ultra high performance liquid chromatography-triple quaternary bar mass spectrometer. The components were detected in multiple reaction monitoring mode by mass spectrometry with ionizationmode of ESI<sup>+</sup>. The content of the components measured in the samples was calculated by using the external standard method, and the difference between samples was analyzed based on RSD of different components. <b>Result::The established method had a high sensitivity and good separation degree. The results of methodological investigation met the requirements. The results showed that all of the 15 batches of Farfarae Flos contained PAs and their nitrogen oxides. These PAs had almost the same types of structure. There were significant differences in the content and distribution of PAs in Farfarae Flos obtained from different sources. <b>Conclusion::In general, Farfarae Flos contains pyrrolidine alkaloids and their nitrogen oxides. Senkirkine with a significant hepatotoxicity is the main compound. The content determination of PAs will provide scientific fundaments for the safe and effective use of Farfarae Flos.

12.
Chinese Journal of Surgery ; (12): 114-118, 2020.
Artículo en Chino | WPRIM | ID: wpr-787667

RESUMEN

To investigate the safety and feasibility of longitudinal transpancreatic U-sutures invaginated pancreatojejunostomy (Chen's pancreaticojejunostomy technique) in laparoscopic pancreaticoduodenectomy (LPD). Clinical data of 116 consecutive patients who underwent LPD using Chen's pancreaticojejunostomy technique in Hunan Provincial People's Hospital from May 2017 to December 2018 were retrospectively analyzed. Among these patients, 66 were males and 50 were females. The median age was 58 years old (32-84 yeas old). All 116 patients underwent pure laparoscopic whipple procedure with Child reconstruction method, using Chen's pancreaticojejunostomy technique. The intraoperative and postoperative data of patients were analyzed. All 116 patients underwent LPD successfully. The mean operative time was (260.3±33.5) minutes (200-620 minutes). The mean time of pancreaticojejunostomy was (18.2±7.6) minutes (14-35 minutes). The mean time of hepaticojejunostomy was (14.6±6.3) minutes (10-25 minutes). The mean time of gastrojejunostomy was (12.0±5.5) minutes (8-20 minutes). The mean estimated blood loss was (106.0±87.6) ml (20-800 ml). Postoperative complications were: 11.2%(13/116) of cases had postoperative pancreatic fistula (POPF), including 10.3% (12/116) of biochemical fistula and 0.9%(1/116) of grade B POPF, no grade C POPF occurred; 10.3%(12/116) had gastrojejunal anastomotic bleeding; 3.4%(4/116) had hepaticojejunal anastomotic fistula; 3.4%(4/116) had delayed gastric emptying; 4.3% (5/116) had localized abdominal infection; 12.1%(14/116) had pulmonary infection; postoperative mortality were 0(0/116) and 1.7%(2/116) within 30 days and 90 days, respectively. One patient died of massive abdominal bleeding secondary to Gastroduodenal artery pseudoaneurysm rupture, the other patient died of extensive tumor recurrence and metastasis after surgery. Chen's pancreaticojejunostomy technique is safe and feasible for LPD.It is an option especially for surgeons who have not completed the learning curve of LPD.

13.
Journal of China Pharmaceutical University ; (6): 497-504, 2019.
Artículo en Chino | WPRIM | ID: wpr-807890

RESUMEN

@#Dysfunctional learning and memorization ability as well as emotion exist in multiple central nervous diseases, which are disastrous to patients and their family. Reports indicate that neuro-inflammation is involved in various central nervous diseases; additionally, it participates in the regulation of learning and memorization ability as well as emotion. This article reviews data on several human diseases of animal model and clinical researches and discusses the relationship between neuro-inflammation and cognitive function. Some therapeutic researches targeting neuro-inflammation to improve neurological diseases are also summarized, with an attempt to provide inspiration and advice for the to development of drugs for diseases alike.

14.
Chinese Medical Journal ; (24): 1533-1540, 2019.
Artículo en Inglés | WPRIM | ID: wpr-771225

RESUMEN

BACKGROUND@#Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay (ID/GDD). The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.@*METHODS@#We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017. Data concerning basic clinical manifestations were collected, and the method of etiology confirmation was recorded. Genome-wide copy number variations (CNVs) detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies. We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.@*RESULTS@#We recruited 1051 children with mild (367, 34.9%), moderate (301, 28.6%), severe (310, 29.5%), and profoundly severe (73, 6.9%) ID/GDD. The main causes of ID/GDD in the children assessed were perinatal factors, such as acquired brain injury, as well as single gene imbalance and chromosomal gene mutation. We identified karyotype and/or CNVs variation in 46/96 (47.9%) of cases in severe ID/GDD patients, which was significantly higher than those with mild and moderate ID/GDD of 34/96 (35.4%) and 15/96 (15.6%), respectively. A total of 331/536 (61.8%) patients with clear etiology have undergone genetic analysis while 262/515 (50.9%) patients with unclear etiology have undergone genetic analysis (χ = 12.645, P < 0.001). Gene structure variation via karyotype analysis and CNV detection increased the proportion of children with confirmed etiology from 51.0% to 56.3%, and second-generation high-throughput sequencing dramatically increased this to 78.9%. Ten novel mutations were detected, recessive mutations in X-linked genes (ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3) and dominant de novo heterozygous mutations in X-linked genes (cyclin-dependent kinase like 5, protocadherin 19, IQ motif and Sec7 domain 2, and methyl-CpG binding protein 2) were reported in the study.@*CONCLUSIONS@#The present study indicates that genetic analysis is an effective method to increase the proportion of confirmed etiology in ID/GDD children and is highly recommended, especially in ID/GDD children with uncertain etiology.

15.
Chinese Medical Journal ; (24): 1533-1540, 2019.
Artículo en Inglés | WPRIM | ID: wpr-802552

RESUMEN

Background@#Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay (ID/GDD). The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.@*Methods@#We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017. Data concerning basic clinical manifestations were collected, and the method of etiology confirmation was recorded. Genome-wide copy number variations (CNVs) detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies. We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.@*Results@#We recruited 1051 children with mild (367, 34.9%), moderate (301, 28.6%), severe (310, 29.5%), and profoundly severe (73, 6.9%) ID/GDD. The main causes of ID/GDD in the children assessed were perinatal factors, such as acquired brain injury, as well as single gene imbalance and chromosomal gene mutation. We identified karyotype and/or CNVs variation in 46/96 (47.9%) of cases in severe ID/GDD patients, which was significantly higher than those with mild and moderate ID/GDD of 34/96 (35.4%) and 15/96 (15.6%), respectively. A total of 331/536 (61.8%) patients with clear etiology have undergone genetic analysis while 262/515 (50.9%) patients with unclear etiology have undergone genetic analysis (χ2 = 12.645, P < 0.001). Gene structure variation via karyotype analysis and CNV detection increased the proportion of children with confirmed etiology from 51.0% to 56.3%, and second-generation high-throughput sequencing dramatically increased this to 78.9%. Ten novel mutations were detected, recessive mutations in X-linked genes (ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3) and dominant de novo heterozygous mutations in X-linked genes (cyclin-dependent kinase like 5, protocadherin 19, IQ motif and Sec7 domain 2, and methyl-CpG binding protein 2) were reported in the study.@*Conclusions@#The present study indicates that genetic analysis is an effective method to increase the proportion of confirmed etiology in ID/GDD children and is highly recommended, especially in ID/GDD children with uncertain etiology.

16.
Chinese Pharmacological Bulletin ; (12): 624-629, 2019.
Artículo en Chino | WPRIM | ID: wpr-857252

RESUMEN

Aim To study the effect of total saponins of Schizocapsa plantaginea Hance ( SFSP) on hepatic fibrosis in rats induced by CC14 and to investigate the molecular mechanisms of these effects. Methods 5 SD rats were randomly divided into five groups: Normal control group, model group, colchicine (Col) as positive control group, low-dose SFSP group (SFSP-L), and high-dose SFSP group ( SFSP-H ). After four weeks of continuous administration, serum AST, ALT and hydroxyproline (Hyp) were measured by biochemical detection method. The four indicators of liver fibrosis ( CIV, PC HJ , LN, HA) in serum were measured by enzyme linked immunosorbent assay. The location of liver fibrous tissues was observed by Masson staining. Liver sections were stained with HE, and observed for pathologic changes. Liver ultrastructural changes were observed using a transmission electron microscope. The expressions of mRNA of α-smooth muscle actin(α-SMA) , transforming growth factor pi (TGF-β1) , Smad4 and Smad7 in liver were detected by qPCR. Results In the liver fibrosis model group, the contents of AST, ALT and CIV, PCI, LN, HA, Hyp reflecting liver injury and fibrosis significantly increased ( P < 0. 05 ) , while in SFSP-H group and Col group the contents of the above indicators were significantly reduced, and the pathological results of liver tissues were consistent with it. SFSP significantly inhibited the expression of TGF-β1, Smad4 and α-SMA mR-NA ( P < 0. 01 ) , and increased the expression of Smad7 as well (P < 0. 01). Conclusion SFSP has an antifibrogenic effect through down-regulating the TGF-(β1/Smad signaling pathway in rats.

17.
International Eye Science ; (12): 1805-1807, 2019.
Artículo en Chino | WPRIM | ID: wpr-750509

RESUMEN

@#AIM: To compare and observe the image characteristics of polypoidal choroidal vasculopathy(PCV)with frequency domain optical coherence tomography(OCT)andoptical coherence tomography angiographyoptical(OCTA).<p>METHODS: Totally 25 eyes of 25 patients diagnosed with PCV in our hospital from March 2018 to December 2018 were included in the study. All the patients were examined by fluorescein fundus angiography(FFA)and /or indocyanine green angiography(ICGA)and OCT and OCTA were performed at the same time. Their similarities and differences between OCT and OCTA were compared.<p>RESULTS: OCT examination showed 14 eyes with serous and hemorrhagic pigment epithelial detachment(PED)in 25 eyes. OCTA lesions were in dark areas with low signal and 9 eyes showed strong signal points beside. OCTA showed branch vascular network(BVN)of reticular structure in 11 eyes with double layer sign. In 12 eyes with polyps lensions, OCTA showed strong or low signal areas.<p>CONCLUSION: OCTA is more intuitive to BVN in eyes with PCV. Polyps show strong or weak signals. Serous and hemorrhagic PED, OCT and OCTA images all showed low reflection or low singial dark ares,without characteristic. The lesion location and morphology of the two showed similarities, but also differences.

18.
China Journal of Chinese Materia Medica ; (24): 493-501, 2018.
Artículo en Chino | WPRIM | ID: wpr-771710

RESUMEN

The NAC family is an important transcription factor which regulate plant growth and development, signal transduction, and stress response.In this study, the protein identification, subfamily classification, the determination of physical and chemical properties, protein structure, and expression pattern of NAC family were performed using bioinformatic methods based on the RNA-seq data of ginger. The results showed that a total of 72 NAC transcription factors were identified in 271.1 Mb total nucleotides, and they could be clustered into 13 subfamilies according to the phylogenetic tree.The physical and chemical properties, structure analysis revealed that the amino acid number and isoelectric point were different among 13 NAC subfamilies; the secondary structure of NACs transcription factors mainly consist of random coil, and the tertiary structure is similar.In addition,the expression patterns of genes under different soil moisture and Ralstonia solanacearum infection showed that 23 NACs were differentially expressed, which were mainly distributed in Ⅷ,Ⅶ, and ⅩⅤ subfamilies related to plant senescence, hormone metabolism and cell wall metabolism.The results provide some valuable information for the research and development of NAC transcription factors in ginger.


Asunto(s)
Regulación de la Expresión Génica de las Plantas , Zingiber officinale , Genética , Familia de Multigenes , Filogenia , Proteínas de Plantas , Genética , Estructura Terciaria de Proteína , ARN de Planta , Genética , Análisis de Secuencia de ARN , Factores de Transcripción , Genética
19.
Chinese Journal of Medical Genetics ; (6): 498-501, 2018.
Artículo en Chino | WPRIM | ID: wpr-688206

RESUMEN

<p><b>OBJECTIVE</b>To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.</p><p><b>RESULTS</b>Four pathogenic mutations of the DYSF gene were detected, which included a de novo mutation and three mutations with uncertain significance. In pedigree 1, the proband carried compound heterozygous mutations of c.1667T to C (p.Leu556Pro) and c.5567T to A (p.Val1856Glu), which were respectively inherited from her mother and father. Proband of pedigree 2 carried compound heterozygous mutations of c.4853A to G (p.Tyr1618Cys) and c.4876G to A (p.Val1612Ile), among which c.4876G to A (p.Val1626Ile) was also found in his father and grandfather, while c.4853A to G (p.Tyr1618Cys) was detected in his mother and grandmother.</p><p><b>CONCLUSION</b>The two compound heterozygous mutations of the DYSF gene probably underlie the LGMD2B in the two pedigrees. Next generation sequencing has conferred great advantage for gene diagnosis of hereditary myopathy.</p>

20.
Chinese Journal of Anesthesiology ; (12): 571-574, 2018.
Artículo en Chino | WPRIM | ID: wpr-709818

RESUMEN

Objective To evaluate the influence of peritoneal lavage with different concentrations of povidone-iodine on hemodynamics and acid-base balance in rabbits.Methods Twenty-four clean-grade healthy adult male New Zealand white rabbits,aged 3 months,weighing 2.8-3.2 kg,were divided into 4 groups (n=6 each) using a random number table:control group (group C),povidone-iodine 1/3 of original concentration group (group TI),povidone-iodine l/2 of original concentration group (group HI) and povidone-iodine of original concentration group (group OI).Rabbits were anaesthetized with intraperitoneal 3% pentobarbital 1.5 ml/kg,the left femoral artery was cannulated for invasive blood pressure monitoring,and the abdominal cavity was opened.Peritoneal lavage was performed with normal saline,povidone-iodine diluted with normal saline (1 ∶ 2),povidone-iodine diluted with normal saline (1 ∶ 1) and original povidone-iodine 20 ml at 10 min after opening abdominal cavity in C,TI,HI and OI groups,respectively.The fluid for peritoneal lavage was sucked out using a sterile gauze 2 min later and then the abdominal cavity was closed.Mean arterial pressure (MAP) and heart rate (HR) were recorded immediately before lavage (T0) and at 5,10 and 20 min and 1 and 2 h after the end of lavage (T1-5).Arterial blood samples were collected at T0,T4 and T5 for blood gas analysis,and the pH value,BE and lactic acid level were recorded.The duration of anesthesia before peritoneal lavage,cumulative dose of anesthetics,fluid volume and urine volume at 2 h after anesthesia,and mortality at 3 h after peritoneal lavage were recorded.Results Compared with group C,MAP at T1-5 and HR at T3-5 were significantly decreased in TI,HI and OI groups,pH value was significantly decreased and BE negative value was increased at T4,5 in HI and OI groups,the lactic acid level was significantly increased at T5 in group OI,and the mortality rate were significantly increased in HI and OI groups (P<0.05).Compared with group TI,MAP at T4,5 and pH value at T5 were significantly decreased,BE negative value was increased at T5,and the lactic acid level was increased at T4,5 in group Ol (P<0.05).There was no significant difference in each parameter between group OI and group HI (P>0.05).Conclusion Peritoneal lavage with povidone-iodine dose-dependently leads to hemodynamic deterioration and acid-base imbalance in rabbits.

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