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1.
Chinese journal of integrative medicine ; (12): 62-74, 2024.
Artigo em Inglês | WPRIM | ID: wpr-1010326

RESUMO

Elemene, derived from Curcuma wenyujin, one of the "8 famous genuine medicinal materials of Zhejiang province," exhibits remarkable antitumor activity. It has gained wide recognition in clinical practice for effectiveness on tumors. Dr. XIE Tian, introduced the innovative concept of "molecular compatibility theory" by combining Chinese medicine principles, specifically the "monarch, minister, assistant, and envoy" theory, with modern biomedical technology. This groundbreaking approach, along with a systematic analysis of Chinese medicine and modern biomedical knowledge, led to the development of elemene nanoliposome formulations. These novel formulations offer numerous advantages, including low toxicity, well-defined composition, synergistic effects on multiple targets, and excellent biocompatibility. Following the principles of the "molecular compatibility theory", further exploration of cancer treatment strategies and methods based on elemene was undertaken. This comprehensive review consolidates the current understanding of elemene's potential antitumor mechanisms, recent clinical investigations, advancements in drug delivery systems, and structural modifications. The ultimate goal of this review is to establish a solid theoretical foundation for researchers, empowering them to develop more effective antitumor drugs based on the principles of "molecular compatibility theory".


Assuntos
Humanos , Estudos Retrospectivos , Antineoplásicos/uso terapêutico , Neoplasias/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Sesquiterpenos/uso terapêutico
2.
China Journal of Chinese Materia Medica ; (24): 2059-2067, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981337

RESUMO

Panax notoginseng contains triterpene saponins, flavonoids, amino acids, polysaccharides, volatile oil and other active components, which have the effects of promoting blood circulation, stopping bleeding, removing blood stasis, etc. This study summarized the herbal research, chemical constituents and main pharmacological activities of P. notoginseng, and based on the theory of Q-markers of traditional Chinese medicine, predicted and analyzed the Q-markers of P. notoginseng from the aspects of plant kinship, efficacy, drug properties, measurability of chemical components, etc. It was found that ginsenosides Rg_1, Re, and Rb_1 with specific content ratio, ginsenosides Rb_2, Rb_3, Rc, Rd, Rh_2, and Rg_3, notoginseng R_1, dencichine and quercetin could be used as potential Q-markers of P. notoginseng, which facilitated the formulation of quality standards reflecting the efficacy of P. notoginseng.


Assuntos
Panax notoginseng/química , Ginsenosídeos/análise , Saponinas/análise , Medicina Tradicional Chinesa , Medicamentos de Ervas Chinesas/farmacologia , Panax/química
3.
Chinese Journal of Hepatology ; (12): 742-749, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986204

RESUMO

Objective: To detect the therapeutic efficacy of FGF21 analogues on the zebrafish model of non-alcoholic fatty liver disease. Methods: A zebrafish model of non-alcoholic fatty liver disease was established by providing the normal diet fed to wild-type zebrafish three times daily. PF-05231023 was administered exogenously at a final concentration of 0.5 μmol/L. Body length, body weight, triglycerides, and other indexes were measured after 20 days. Pathological changes were evaluated in liver tissue sections by HE staining. Quantitative PCR was used to identify expressional changes in genes related to lipid metabolism, endoplasmic reticulum stress, and inflammation. Results: QPCR and immunofluorescence staining results showed that FGF21 was highly expressed in the zebrafish model group. The addition of the FGF21 analogue PF-05231023 significantly reduced the body length and body weight (P < 0.01), and the triglyceride content (P < 0.05) in the zebrafish model group. The liver HE staining results showed that PF-05231023 had alleviated the large and tiny bullae fat, lesions, and others in the zebrafish model group. The quantitative PCR results demonstrated that PF-05231023 reduced the expression of lipogenic factors (P < 0.01), inflammatory-related factors (P < 0.001), and genes related to endoplasmic reticulum stress (P < 0.05), but raised lipid-oxidation-related factors (P < 0.05) in the zebrafish model group. The addition of PF-05231023 reduced oleic acid-induced lipid and triglyceride levels in HepG2 cells. Conclusion: FGF21 analogue addition can improve indexes in the zebrafish disease model of non-alcoholic fatty liver disease.


Assuntos
Animais , Peso Corporal , Dieta Hiperlipídica , Lipídeos , Fígado/patologia , Hepatopatia Gordurosa não Alcoólica/patologia , Triglicerídeos/metabolismo , Peixe-Zebra/metabolismo , Proteínas de Peixe-Zebra
4.
Journal of Experimental Hematology ; (6): 1852-1859, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1010049

RESUMO

OBJECTIVE@#To retrospectively analyze the efficacy and complications of our institution's modified nonmyeloablative allogeneic hematopoietic stem cell transplantation (NST) in treating intermediate-risk acute myeloid leukemia (AML) - first complete remission (CR1) and prognostic factors.@*METHODS@#Clinical data of 50 intermediate-risk AML-CR1 patients who underwent matched related NST at the Fifth Medical Center of Chinese People's Liberation Army General Hospital from August 2004 to April 2021 were collected, the hematopoietic recovery, donor engraftment and complications were observed, and overall survival (OS) rate, leukemia-free survival (LFS) rate, treatment-related mortality (TRM), and cumulative relapse rate were calculated. Statistical analysis of factors affecting prognosis was also preformed.@*RESULTS@#The median times for neutrophil and platelet recovery after transplantation were 10 (6-16) and 13 (6-33) days, respectively. One month after transplantation, 22 patients (44%) achieved full donor chimerism (FDC), and 22 patients (44%) achieved mixed chimerism (MC), among whom 18 cases gradually transited to FDC during 1-11 months, 4 cases maintained MC status. The overall incidence of acute graft-versus-host disease (aGVHD) was 36%, with a rate of 18% for grade II-IV aGVHD and a median onset time of 45 (20-70) days after transplantation. The overall incidence of chronic GVHD (cGVHD) was 34%, with 20% and 14% of patients having limited or extensive cGVHD, respectively. The incidence rates of infections, interstitial pneumonia, and hemorrhagic cystitis were 30%, 10%, and 16%, respectively. The 5-year OS rate, LFS rate, TRM, and cumulative relapse rate were 68%, 64%, 16%, and 20%, respectively. The increase of the number of CD34+ cells infused had shortened the recovery time for neutrophils and platelets (r =0.563, r =0.350). The number of CD34+ cells infused significantly influenced the occurrence of extensive cGVHD (OR =1.36, 95%CI : 1.06-1.84, P =0.024).@*CONCLUSION@#Modified NST is effective in treating intermediate-risk AML-CR1 patients, however, further expansion of sample size is needed to study prognostic factors.


Assuntos
Humanos , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Leucemia Mieloide Aguda/complicações , Prognóstico , Recidiva , Estudos Retrospectivos
5.
Chinese Journal of Contemporary Pediatrics ; (12): 1001-1007, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1009838

RESUMO

OBJECTIVES@#To investigate the risk factors and prognosis of hypotension within 72 hours after birth in extremely preterm infants.@*METHODS@#A retrospective analysis was conducted on clinical data of extremely preterm infants admitted to the Children's Hospital of Zhejiang University School of Medicine from January 2019 to April 2022. Based on the presence of hypotension within 72 hours after birth, the eligible infants were divided into a hypotension group (41 cases) and a normotension group (82 cases). The clinical characteristics, echocardiographic parameters within 72 hours after birth, and early complications were compared between the two groups. Multivariate logistic regression analysis was used to explore the risk factors for hypotension within 72 hours after birth, and receiver operating characteristic curve analysis was performed to evaluate the predictive value of relevant indicators for the occurrence of hypotension within 72 hours after birth in the preterm infants.@*RESULTS@#The proportion of infants who required medication or surgical closure of patent ductus arteriosus (PDA), the proportions of infants with intraventricular hemorrhage ≥ grade III and severe pulmonary hemorrhage, and the mortality rate within 7 days in the hypotension group were significantly higher than those in the normotension group (P<0.05). Multivariate logistic regression analysis showed that lower birth weight, larger PDA diameter, and hemodynamically significant PDA were risk factors for the occurrence of hypotension within 72 hours after birth in extremely preterm infants (P<0.05). The receiver operating characteristic curve analysis showed that the combination of birth weight, PDA diameter, and hemodynamically significant PDA had an area under the curve of 0.873 (95%CI: 0.802-0.944, P<0.05) for predicting hypotension within 72 hours after birth, with a sensitivity of 73.2% and specificity of 91.5%.@*CONCLUSIONS@#Hypotension within 72 hours after birth is closely related to birth weight and PDA, and increases the risk of early severe complications and mortality in extremely preterm infants.


Assuntos
Criança , Recém-Nascido , Humanos , Lactente Extremamente Prematuro , Peso ao Nascer , Estudos Retrospectivos , Permeabilidade do Canal Arterial/cirurgia , Hemorragia Cerebral , Prognóstico , Hipotensão/etiologia , Fatores de Risco
6.
China Journal of Chinese Materia Medica ; (24): 6003-6010, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1008798

RESUMO

Angelicae Sinensis Radix is one of the main Chinese medicinal materials with both medicinal and edible values. It has the functions of tonifying and activating blood, regulating menstruation and relieving pain, and moistening intestines to relieve constipation. It is mainly produced in the southeastern Gansu province, and that produced in Minxian, Gansu is praised for the best quality. The chemical components of Angelicae Sinensis Radix mainly include volatile oils, organic acids, and polysaccharides, which have anti-inflammatory, pain-relieving, anti-tumor, anti-oxidation, immunomodulatory and other pharmacological effects. Therefore, this medicinal material is widely used in clinical practice. By reviewing the relevant literature, this study systematically introduced the research status about the chemical constituents and pharmacological effects of processed Angelicae Sinensis Radix products, aiming to provide a theoretical reference and support for the future research, development, and clinical application of related drugs.


Assuntos
Medicamentos de Ervas Chinesas/farmacologia , Angelica sinensis , Óleos Voláteis , Anti-Inflamatórios , Dor
7.
Chinese Journal of Pediatrics ; (12): 240-244, 2023.
Artigo em Chinês | WPRIM | ID: wpr-970274

RESUMO

Objective: To analyze the clinical characteristics, diagnosis and treatment of anomalous aortic origin of a coronary artery (AAOCA) in children. Methods: There were 17 children diagnosed with AAOCA from January 2013 to January 2022 in Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine.Their clinical manifestations, laboratory and imaging data, treatment and prognosis were retrospectively analyzed. Results: These 17 children included 14 males and 3 females, with the age of (8.7±3.5) years. There were 4 anomalous left coronary artery (ALCA) and 13 anomalous right coronary artery (ARCA). Seven children presented with chest pain or chest pain after exercise, three patients presented with cardiac syncope, one complained chest tightness and weakness, and the other six patients had no specific symptoms. Cardiac syncope and chest tightness occurred in patients with ALCA. Fourteen children had the dangerous anatomical basis of myocardial ischemia caused by coronary artery compression or stenosis on imaging. Seven children had coronary artery repair, of whom two were ALCA and five were ARCA. One patient had received heart transplantation because of heart failure. The incidence of adverse cardiovascular events and poor prognosis in ALCA group was higher than that in ARCA group (4/4 vs. 0/13, P<0.05). They were followed up in the outpatient department regularly for 6 (6, 12) months; except for the one who lost visit, the rest of the patients had a good prognosis. Conclusions: Cardiogenic syncope or cardiac insufficiency usually occurs in ALCA, and adverse cardiovascular events and poor prognosis are more common in ALCA than in ARCA. Early surgical treatment should be considered for children with ALCA and ARCA accompanied by myocardial ischemia.


Assuntos
Feminino , Masculino , Humanos , Criança , Pré-Escolar , Estudos Retrospectivos , China , Doença da Artéria Coronariana , Isquemia Miocárdica , Insuficiência Cardíaca , Dor no Peito , Síncope
8.
China Pharmacy ; (12): 620-624, 2023.
Artigo em Chinês | WPRIM | ID: wpr-964776

RESUMO

OBJECTIVE To compare the similarities and differences of the two methods in analyzing the use of opioids in third grade class A medical institutions and provide a reference for the management of opioids in medical institutions. METHODS Two methods, Defined Daily Dose (DDD) and Oral Morphine Equivalent (OME), were used to count the opioid prescription data of five comprehensive medical institutions of third grade class A (named H1-H5) in Shanxi province in 2020, calculate consumption sum of opioid, annual per capita consumption sum, patient cost burden and drug consumption sum ratio, compare the index results presented by the two analysis methods, and explore the application scenarios of the advantages of each of the two evaluation methods. RESULTS The ranking of consumption sum of opioid and patient cost burden calculated by the two methods was the same in the five sample medical institutions, but the ranking of per capita consumption sum was different. Taking the 5 medical institutions as a whole, the top 4 rankings of consumption sum ratio for each species of opioid compared by both methods were the same, i. e. remifentanil>sufentanil>oxycodone>morphine. The ratio of remifentanil was close to 50%. When comparing the ranking of consumption sum ratio in each medical institution, the ranking calculated by the two methods was different for those medical institutions except for H1 medical institutions. The consumption sum ratio of fentanyl calculated by DDD method was significantly higher than that of OME method; whereas consumption sum ratio of remifentanil calculated by OME method was significantly higher than that of DDD method. Perioperative patients had the highest consumption sum ratio, about 50%. The consumption sum ratio of critically ill patients in H3 jwsydey@163.com medical institutions and inpatient patients with cancer pain and other patients in H5 medical institutions calculated by DDD method was significantly higher than that by OME method. There were differences in the order of cost burden of different types of patients calculated by two methods. CONCLUSIONS DDD method can accurately reflect the dosage of opioid drugs and facilitate the monitoring and management of the dosage; OME method can more reflect the analgesic effect and compare the cost burden of patients.

9.
International Eye Science ; (12): 1220-1223, 2022.
Artigo em Chinês | WPRIM | ID: wpr-929511

RESUMO

AIM: To investigate the safety and effectiveness of four-valve technique in the improved conjunctivo-dacryocystorhinostomy. METHODS: Retrospective clinical study. A total of 28 patients(28 eyes)who were treated in our hospital from September 2017 to June 2020 with lacrimal disease were selected as the research subjects. These patients were treated with conjunctivo-dacryocystorhinostomy. Postoperative follow-up was performed for 6-12mo to observe the surgical effect, satisfaction and postoperative complications.RESULTS: The positive rate of fluorescein sodium dye excretion test after surgery in this group of patients was 96%(27/28), the success rate of surgery was 96%(27/28), the cure rate was 68%(19/28), the improvement rate was 28%(8/28), the ineffective rate was 4%(1/28)and the overall satisfaction of patients was 93%(26/28). The postoperative complications included ocular foreign body sensation(28 eyes), conjunctival hyperemia(11 eyes), nasal cavity and conjunctival sac bleeding(8 eyes)and lacrimal passage tube out(1 eye). CONCLUSION: The four-valve technique is used to improve the conjunctivo-dacryocystorhinostomy with high success rate, less complications, safety and effectiveness.

10.
Chinese Journal of Contemporary Pediatrics ; (12): 500-506, 2022.
Artigo em Chinês | WPRIM | ID: wpr-928635

RESUMO

OBJECTIVES@#To study the effect of timing of surgical ligation of patent ductus arteriosus (PDA) on the prognosis of very low birth weight infants (VLBWI).@*METHODS@#The medical data of VLBWI who underwent transthoracic ligation for PDA from June 2018 to May 2021 were reviewed retrospectively. The infants were divided into early ligation group (≤21 days of age) and late ligation group (>21 days of age) based on the age of ligation. The two groups were compared in terms of perioperative clinical features, complications, and mortality. The risk factors for early surgical ligation were analyzed.@*RESULTS@#A total of 72 VLBWI were enrolled, with 19 infants (26%) in the early ligation group and 53 infants (74%) in the late ligation group. There were significant differences in birth weight, gestational age, weight at operation, days of age at operation, rates of preoperative invasive and noninvasive mechanical ventilation, incidence rate of pulmonary hemorrhage, incidence rate of hypotension, preoperative PDA internal diameter (mm/kg), intraoperative PDA external diameter (mm/kg), incidence rate of post-ligation cardiac syndrome, and duration of postoperative invasive mechanical ventilation between the two groups (P<0.05). A binary logistic regression analysis showed that pulmonary hemorrhage was an indication of early surgical ligation of PDA (P<0.05). There were no significant differences in the incidence rates of post-operative complications and the mortality rate between the early ligation and late ligation groups.@*CONCLUSIONS@#Early surgical ligation may be performed for VLBWI who are experiencing pulmonary hemorrhage and hemodynamically significant PDA confirmed by cardiac ultrasound after birth. However, post-ligation cardiac syndrome should attract enough attention. In addition, early surgical ligation of PDA does not increase the risk of surgery-related and long-term complications or death, indicating that it is a safe and feasible treatment option.


Assuntos
Humanos , Lactente , Recém-Nascido , Permeabilidade do Canal Arterial/cirurgia , Idade Gestacional , Recém-Nascido de muito Baixo Peso , Ligadura , Estudos Retrospectivos
11.
Chinese Journal of Contemporary Pediatrics ; (12): 141-146, 2022.
Artigo em Inglês | WPRIM | ID: wpr-928579

RESUMO

OBJECTIVES@#To study the features of catheter-related bloodstream infection (CRBSI) or central line-associated bloodstream infection (CLABSI) after peripherally inserted central catheterization (PICC) in neonates admitted to the neonatal intensive care unit (NICU) and the risk factors for CRBSI or CLABSI.@*METHODS@#A retrospective analysis was performed on the medical data of the neonates who were treated and required PICC in the NICU of the Children's Hospital, Zhejiang University School of Medicine from June 1, 2018 to May 1, 2020. The catheterization-related data were collected, including placement time, insertion site, removal time, and antimicrobial lock of PICC. The multivariate logistic regression model was used to investigate the risk factors for CRBSI or CLABSI in the neonates.@*RESULTS@#A total of 446 neonates were enrolled, with a mean gestational age of (30.8±4.0) weeks, a mean birth weight of (1 580±810) g, a median age of 9 days, and a median duration of PICC of 18 days. The incidence rates of CLABSI and CRBSI were 5.6 and 1.46 per 1 000 catheter days, respectively. Common pathogens for CLABSI caused by PICC included Staphylococcus epidermidis (n=19) and Klebsiella pneumoniae (n=11), and those for CRBSI caused by PICC included Klebsiella pneumoniae (n=6). The risk of CLABSI caused by PICC increased significantly with prolonged durations of PICC and antibiotic use, and the PICC-related infection probability at head and neck was significantly lower than that in the upper and low limbs (P<0.05), while the above conditions were more obvious in neonates with a birth weight of <1 500 g. The risk of CRBSI caused by PICC decreased with the increase in gestational age (P<0.05).@*CONCLUSIONS@#CRBSI and CLABSI remain serious issues in NICU nosocomial infection. The identification of the risk factors for CRBSI and CLABSI provides a basis for improving the quality of clinical care and management.


Assuntos
Criança , Humanos , Lactente , Recém-Nascido , Infecções Relacionadas a Cateter/etiologia , Cateterismo Venoso Central/efeitos adversos , Cateterismo Periférico/efeitos adversos , Cateteres Venosos Centrais/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Sepse/etiologia
12.
Chinese Journal of Contemporary Pediatrics ; (12): 26-32, 2022.
Artigo em Inglês | WPRIM | ID: wpr-928562

RESUMO

OBJECTIVES@#To study the value of bedside echocardiography in predicting persistent patency of the ductus arteriosus during the early postnatal period in very low birth weight (VLBW) infants.@*METHODS@#A retrospective analysis was performed for 51 VLBW infants who were admitted from March 2020 to June 2021, with an age of ≤3 days and a length of hospital stay of ≥14 days. According to the diameter of patent ductus arteriosus (PDA) on days 14 and 28 after birth, the infants were divided into three groups: large PDA group (PDA diameter ≥2 mm), small PDA group (PDA diameter <2 mm), and PDA closure group (PDA diameter =0 mm). The echocardiographic parameters measured at 72 hours after birth were compared among the three groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the echocardiographic parameters in predicting persistent patency of the ductus arteriosus (PDA≥2 mm) at the ages of 14 and 28 days.@*RESULTS@#On day 14 after birth, there were 17 infants in the large PDA group, 11 in the small PDA group, and 23 in the PDA closure group. On day 28 after birth, there were 14 infants in the large PDA group, 9 in the small PDA group, and 26 in the PDA closure group. There were significant differences in gestational age, birth weight, rate of pulmonary surfactant use, and incidence rate of hypotension among the three groups (P<0.05). PDA diameter, end-diastolic velocity of the left pulmonary artery, left ventricular output, and left ventricular output/superior vena cava flow ratio measured at 72 hours after birth were associated with persistent patency of the ductus arteriosus at the ages of 14 and 28 days (P<0.05), and the ratio of the left atrium to aorta diameter was associated with persistent patency of the ductus arteriosus at the age of 28 days (P<0.05). The ROC curve analysis showed that the area under the curve that the PDA diameter measured at 72 hours after birth predicting the persistent patency of the ductus arteriosus at the ages of 14 and 28 days was the largest (0.841 and 0.927 respectively), followed by end-diastolic velocity of the left pulmonary artery, with the area under the curve of 0.793 and 0.833 respectively.@*CONCLUSIONS@#The indicators obtained by beside echocardiography at 72 hours after birth, especially PDA diameter and end-diastolic velocity of the left pulmonary artery, can predict persistent patency of the ductus arteriosus at the ages of 14 and 28 days in VLBW infants, which provides a basis for the implementation of early targeted treatment strategy for PDA.


Assuntos
Humanos , Lactente , Recém-Nascido , Permeabilidade do Canal Arterial/diagnóstico por imagem , Ecocardiografia , Recém-Nascido de muito Baixo Peso , Estudos Retrospectivos , Veia Cava Superior
13.
Journal of Biomedical Engineering ; (6): 175-184, 2022.
Artigo em Chinês | WPRIM | ID: wpr-928212

RESUMO

The body weight support rehabilitation training system has now become an important treatment method for the rehabilitation of lower limb motor dysfunction. In this paper, a pelvic brace body weight support rehabilitation system is proposed, which follows the center of mass height (CoMH) of the human body. It aims to address the problems that the existing pelvic brace body weight support rehabilitation system with constant impedance provides a fixed motion trajectory for the pelvic mechanism during the rehabilitation training and that the patients have low participation in rehabilitation training. The system collectes human lower limb motion information through inertial measurement unit and predicts CoMH through artificial neural network to realize the tracking control of pelvic brace height. The proposed CoMH model was tested through rehabilitation training of hemiplegic patients. The results showed that the range of motion of the hip and knee joints on the affected side of the patient was improved by 25.0% and 31.4%, respectively, and the ratio of swing phase to support phase on the affected side was closer to that of the gait phase on the healthy side, as opposed to the traditional body weight support rehabilitation training model with fixed motion trajectory of pelvic brace. The motion trajectory of the pelvic brace in CoMH mode depends on the current state of the trainer so as to realize the walking training guided by active movement on the healthy side of hemiplegia patients. The strategy of dynamically adjustment of body weight support is more helpful to improve the efficiency of walking rehabilitation training.


Assuntos
Humanos , Fenômenos Biomecânicos , Marcha , Hemiplegia , Pelve , Amplitude de Movimento Articular , Reabilitação do Acidente Vascular Cerebral , Caminhada
14.
Chinese Journal of Pediatrics ; (12): 435-441, 2022.
Artigo em Chinês | WPRIM | ID: wpr-935716

RESUMO

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.


Assuntos
Criança , Feminino , Humanos , Masculino , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , China/epidemiologia , Criptorquidismo/genética , Transtornos do Desenvolvimento Sexual/genética , Doenças dos Genitais Masculinos , Genótipo , Hipospadia/genética , Proteínas de Membrana/genética , Pênis/anormalidades , Fenótipo , Estudos Retrospectivos , Esteroide 21-Hidroxilase/genética
15.
Chinese Journal of Internal Medicine ; (12): 1324-1329, 2022.
Artigo em Chinês | WPRIM | ID: wpr-957688

RESUMO

Objective:To report a case of combined oxidative phosphorylation deficiency 28 (COXPD28) in China, identified the pathogenic mutation and explored the pathogenic mechanism preliminarily.Methods:The clinical characteristics of a patient with COXPD28 were retrospectively analyzed and the pathogenic mutations were identified by mitochondrial gene sequencing and whole exome sequencing. The wild-type and mutant plasmids of pathogenic genes were constructed, and effect of mutation on protein expression by quantitative real-time PCR (qPCR) and Western blot were evaluated. Statistical methods mainly used one-way ANOVA and LSD test.Results:A 21 year old female patient presented with lactic acid poisoning due to repeated chest distress and wheezing since childhood. The sequencing of the whole exon group gene found that solute carrier family 25 member 26 (SLC25A26) gene had a compound heterozygous mutation (c.34G>C, p.A12P; c.197C>A, p.A66E), which was the first report in China. In vitro function test showed that the expression levels of SLC25A26 mRNA and S-adenosylmethionine carrier (SAMC) protein in cells transfected with SLC25A26 mutant plasmid were significantly lower than those transfected with wild type plasmid. The p.A66E mutant plasmid reduced the expression level of SLC25A26 mRNA and SAMC protein to 6% and 26% of wild type plasmids respectively (both P<0.001), while p.A12P mutant plasmid decreased to 62% and 82% of wild type plasmids respectively ( P<0.001, P=0.044). When the double mutant (p.A66E+p.A12P) plasmids were co-transfected, the expression levels of SLC25A26 mRNA and SAMC protein decreased to 47% and 57% of the wild type plasmids, respectively ( P<0.001, P=0.001). Conclusion:The pathogenic mutation gene of this patient with COXPD28 is SLC25A26 gene mutation (p.A66E, p.A12P), which causes the decrease of SLC25A26 expression level, mitochondrial oxidative phosphorylation dysfunction, and induces COXPD28.

16.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 98-104, 2021.
Artigo em Chinês | WPRIM | ID: wpr-905962

RESUMO

Objective:To explore whether palmatine interferes with the proliferation and apoptosis of colon cancer HCT116 cells by binding to G-quadruplex in the promoter region of MYC proto-oncogene and its possible molecular mechanism. Method:Fluorescence spectrum was used to analyze the binding ability of palmatine to MYC G-quadruplex. Circular dichroism analysis was conducted to confirm the effect of palmatine on the configuration of MYC G-quadruplex, followed by the prediction of their binding mode based on molecular docking and the localization analysis of palmatine in HCT116 cells under a fluorescence microscope. The effects of palmatine on MYC gene transcription and MYC protein expression were determined by real-time fluorescence quantitative polymerase chain reaction and Western blot, respectively. The effects of palmatine on the viability and apoptosis of HCT116 cells were further assayed by thiazolyl blue tetrazolium bromide (MTT) assay and flow cytometry. Result:As revealed by fluorescence spectrum and molecular docking analysis, palmatine might bind to G-quadruplex of MYC gene through stacking. Circular dichroism analysis showed that palmatine could maintain the parallel configuration of MYC<italic> </italic>G-quadruplex. It was discovered in fluorescence imaging that palmatine was distributed in the nucleus and bond to G-quadruplex of MYC gene. In addition, palmatine inhibited MYC gene transcription, MYC protein expression, as well as the viability of HCT116 cells, and promoted the apoptosis of HCT116 cells. Conclusion:Palmatine is able to bind to MYC G-quadruplex to further inhibit the expression of MYC gene and protein expression, which may be one of the molecular mechanisms of palmatine in suppressing the proliferation of colon cancer HCT116 cells and facilitating their apoptosis.

17.
Chinese Herbal Medicines ; (4): 389-395, 2021.
Artigo em Chinês | WPRIM | ID: wpr-953640

RESUMO

Objective: The aim of the present study was to determine the quality marker (Q-Markers) of Sparganii Rhizoma against thrombus through an integration of investigations on its antithrombotic effect, content determination and spectrum-effect correlation analysis. Methods: Based on the concept of Q-Marker, Sparganii Rhizoma was investigated for the identification of chemical component. The pharmacological effects on arachidonic acid-induced thrombosis in zebrafish were also investigated. The material basis in ethanol extract was determined by HPLC-UV. Furthermore, the potential Q-Markers were analyzed and predicted according to the effect-chemical correlation analysis. Finally, the anti-thrombotic Q-Markers were verified through the anti-thrombotic test of monomer components. Results: The model of thrombosis zebrafish was established with larvae exposed to 100 µmol/L arachidonic acid for 1 h. Nine ingredients in Sparganii Rhizoma were identified as 5-hydroxymethylfurfural, vanillic acid, ferulic acid, p-hydroxybenzaldehyde, p-hydroxybenzoic acid, vanillin, protocatechuic acid, p-coumaric acid and isoferulic acid. According to the determination effect of zebrafish thrombosis model and HPLC content analysis results, all the other contents present positive correlation except 5-hydroxymethylfurfural, and the P values of three representative potential Q-Markers (ferulic acid, protocatechuic acid and p-coumaric acid) were 0.002, 0.001 and 0.026, respectively. Conclusion: Sparganii Rhizoma showed a dose-dependent effect on the recovery of reducing cardiac red blood cell on zebrafish model. Three phenolic acids (ferulic acid, protocatechuic acid and p-coumaric acid) were proved to possess the anti-thrombotic effects which could be regarded as the potential Q-Markers for quality assessment of Sparganii Rhizoma.

18.
Chinese Journal of Contemporary Pediatrics ; (12): 229-235, 2021.
Artigo em Chinês | WPRIM | ID: wpr-879838

RESUMO

OBJECTIVE@#To study the clinical effect of multi-oil fat emulsion for parenteral nutrition support in extremely low birth weight (ELBW) infants.@*METHODS@#A retrospective analysis was performed for 49 ELBW infants who were admitted from January 1, 2018 to July 30, 2020, with an age of ≤14 days on admission and a duration of parenteral nutrition of > 14 days. According to the type of lipid emulsion received, the ELBW infants were divided into two groups: soybean oil, medium-chain triglycerides, olive oil, and fish oil (SMOF) (@*RESULTS@#The 49 ELBW infants had a mean birth weight of (892±83) g and a mean gestational age of (28.2±2.3) weeks. There was no significant difference between the two groups in the incidence rates of hemodynamically significant patent ductus arteriosus, intraventricular hemorrhage, neonatal necrotizing enterocolitis, retinopathy of prematurity, bronchopulmonary dysplasia (BPD), grade Ⅲ BPD, sepsis, and pneumonia (@*CONCLUSIONS@#The application of multi-oil fat emulsion in ELBW infants does not reduce the incidence rate of complications, but compared with MCT/LCT emulsion, SMOF can reduce the severity of PNAC in ELBW infants.


Assuntos
Humanos , Lactente , Recém-Nascido , Peso ao Nascer , Emulsões , Emulsões Gordurosas Intravenosas , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Nutrição Parenteral , Estudos Retrospectivos , Óleo de Soja
19.
Chinese Journal of School Health ; (12): 120-123, 2021.
Artigo em Chinês | WPRIM | ID: wpr-862610

RESUMO

Objective@#To evaluate the dynamic prevalence of dental fluorosis of children and levels of fluoride in drinking water after improvement of water in Xi an City, to provide scientific basis for water fluoridation improvement.@*Methods@#A total of 35 fluorosis endemic villages were selected as fixed monitor sites in 2014-2018, the ways of water improvement were surveyed, water fluorine content were detected and the prevalence of dental fluorosis in children aged 8 to 12 years were examined.@*Results@#Rates of excess fluoride in drinking water from 2014 to 2018 were 22.86%, 14.29%,11.43%, 11.43% and 8.57%, the difference were significant(χ2=16.44, P<0.01).The dental fluorosis detection rates of children aged 8 to 12 years were 20.89%,18.22%,17.46%,18.13% and 16.76% in 2014-2018 which showed a obvious descending trend by year(χ2=10.02, P<0.01). The detection rate of dental fluorosis in children aged 8 and 9 years showed a decreasing trend by year(χ2=6.53, 4.54, P<0.05).The difference of total rate of dental fluorisis,rate of mild cases rate of moderate-to-severe cases were statistically between the villages without qualified water and the villages with normal fluorine water(χ2=179.22, 167.93,10.35, P<0.01). The rate of detection in the villages with the water fluorine exceed standard in 2014-2018 showed a declining trend year by year(χ2=28.50, P<0.01). The detection rate were significant different across water improvement methods(χ2=197.76, P<0.01). Detection rate of dental fluorosis decreased from 2014 to 2018 in the areas with municipal water supply showed a decreasing after year(χ2=12.16, P<0.01).@*Conclusion@#The improvement of municipal water supply shows significant effects on water fluorosis control, the detection rate of water fluoride and children s dental fluorosis in some villages with the other ways of water improvement are still higher than expected, the continuously monitor of fluoride content in water and dental fluorosis in children should be strengthened.

20.
Chinese Journal of Contemporary Pediatrics ; (12): 638-642, 2020.
Artigo em Chinês | WPRIM | ID: wpr-828693

RESUMO

OBJECTIVE@#To study the clinical features of neonatal enterovirus infection, especially severe enterovirus infection.@*METHODS@#A retrospective analysis was performed for the clinical data of 244 neonates with enterovirus infection. According to the severity of infection, they were divided into a common infection group with 231 neonates and a severe infection group with 13 neonates. Clinical features were compared between the two groups.@*RESULTS@#Of the 244 neonates, 207 (84.8%) developed the disease in May to October, with the highest number of patients in June to July. Compared with the common infection group, the severe infection group had a significantly lower gestational age at birth and a significantly higher proportion of preterm infants (P<0.05). Compared with the common infection group, the severe infection group had a significantly earlier onset time (P<0.05) and significantly higher incidence rates of skin petechiae and ecchymosis, respiratory symptoms, sepsis-like manifestations (poor appetite, crying less, and less movement), concomitant diseases (such as pneumonia, myocarditis, necrotic hepatitis, and coagulation disorder), thrombocytopenia, prolonged prothrombin time, elevated creatine kinase-MB, and elevated alanine aminotransferase (P<0.05). The severe infection group had a significantly higher mortality rate than the common infection group (P<0.05).@*CONCLUSIONS@#There are significant differences in onset time, common clinical manifestations, and concomitant diseases between the neonates with common and severe enterovirus infection. In the enterovirus epidemic season, if the neonates have rashes and/or sepsis-like manifestations such as poor appetite and less movement, especially if the laboratory tests suggest liver damage and coagulation dysfunction, it is necessary to pay particular attention to the possibility of severe enterovirus infection.


Assuntos
Humanos , Recém-Nascido , Enterovirus , Infecções por Enterovirus , Recém-Nascido Prematuro , Estudos Retrospectivos , Sepse
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