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1.
China Pharmacy ; (12): 186-191, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1006176

RESUMO

OBJECTIVE To investigate the inhibitory effects of Ginkgo biloba extract (GBE) on renal inflammation in diabetic nephropathy (DN) model mice, and its potential mechanism. METHODS KK/Ay mice were fed with high fat and high sugar to induce DN model. They were divided into model group, positive control group [metformin 200 mg/(kg·d)], GBE low-dose and high-dose groups [100, 200 mg/(kg·d)], with 6 mice in each group. Six C57BL/6J mice were fed with a regular diet as the control group. Administration groups were given relevant liquid intragastrically, control group and model group were given constant volume of normal saline intragastrically, once a day, for 8 consecutive weeks. The body weight, fasting blood glucose, 24-hour food intake, 24-hour urine output, monocyte chemoattractant protein-1 (MCP-1), interleukin-12 (IL-12), IL-10, advanced glycation end products (AGEs), blood urea nitrogen (BUN) and serum creatinine (Scr) of mice were measured, and the ratio of bilateral kidneys to body weight was also calculated. The pathological injury and fibrotic changes of the renal cortex were observed, and the expressions of macrophage polarization marker proteins [type M1: inducible nitric oxide synthase (iNOS); type M2: arginase-1 (Arg-1)] and AGEs-the receptor of advanced glycation end products (RAGE)/Ras homolog gene pharm_chenjing@163.com family member A (RhoA)/Rho-associated coiled-coil forming protein kinase (ROCK) signaling pathway-related proteins were determined in renal cortex. RESULTS Compared with the model group, the symptoms such as renal cortical hyperplasia, vacuoles, infiltration of inflammatory cells, and renal cortical fibrosis had been improved in GBE low-dose and high-dose groups; body weight, serum level of IL-10, the expression of Arg-1 in the renal cortex were significantly higher than model group (P< 0.01); fasting blood glucose, 24-hour food intake, 24-hour urine output, serum levels of MCP-1, IL-12, BUN, Scr and AGEs, the ratio of bilateral kidneys to body weight, renal injury score, the proportion of renal interstitial fibrosis, the protein expressions of iNOS, RAGE, RhoA and ROCK1 (except for GBE low-dose group) in renal cortex were significantly lower than model group (P<0.01). CONCLUSIONS GBE could improve kidney damage and alleviate inflammatory response in DN model mice, the mechanism of which may be related to inhibiting the AGEs-RAGE/RhoA/ROCK signaling pathway and regulating macrophage polarization.

2.
Acta Pharmaceutica Sinica ; (12): 673-677, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1016628

RESUMO

Five flavonoid glycosides were isolated from the methanol and ethyl acetate fractions of the ethanol extract of Diphylleia sinensi by using various chromatographic methods, including silica gel, MCI gel, Sephadex LH-20, ODS and semi-preparative HPLC. The structures of the isolated compounds were identified as diphyflavonoid A (1), diphyflavonoid B (2), quercetin-3-O-β-D-glucopyranoside (3), kaempferol-3-O-β-D-glucopyranoside (4), kaempferol-3-O-(6″-O-acetyl)-β-D-glucopyranoside (5) by spectroscopy methods (1D NMR, 2D NMR, UV, IR, and MS). Compounds 1 and 2 were two new flavonoid glycosides, and compounds 3 and 5 were isolated from the genus Diphylleia for the first time.

3.
Acta Pharmaceutica Sinica ; (12): 651-660, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1016620

RESUMO

A series of phthalimide-donepezil (PTA-DPZ) hybrids (5a-e, 6a-l) were designed, synthesized and evaluated as selective inhibitors of acetylcholinesterase (AChE). The results showed that some hybrids had strong AChE inhibitory activity with half maximal inhibitory concentration (IC50) at nanomolar range, which was better than the control drugs galanthamine and tacrine, and equivalent to DPZ. Compound 6k exhibited the strongest inhibition to AChE with an IC50 value of 0.13 μmol·L-1. Kinetic and molecular modeling studies showed that 6k targeted both catalytic active site and peripheral anionic site of AChE. Moreover, some compounds could inhibit AChE-induced β-amyloid (Aβ) aggregation. In addition, absorption, distribution, metabolism and excretion prediction results showed 6k conforms to the Lipinski's rule of five and had high partition coefficient P value. These compounds, especially 6k, may be considered as a dual-functional lead compound for in-depth research.

4.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 187-195, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1016478

RESUMO

The term ''panvascular'' refers to the human vascular system, which is a complex network of arteries, veins, and lymphatic vessels. Panvascular diseases refer to a group of vascular system diseases, with vascular atherosclerosis as the common pathological feature. The panvascular diseases in target organs such as the heart, brain, kidney, and limbs are caused by ischemia or bleeding, including arterial system diseases, venous system diseases, microcirculation system diseases, and Zangfu organ-blood vessel diseases. The concept of panvascular diseases integrates vascular lesions and target organ damage. In clinical practice, blood vessels in multiple regions are regarded as a large vascular unit system, and vascular lesions and the induced target organ damage are considered as a whole. Based on the holistic concept and the Zangxiang theory in traditional Chinese medicine (TCM), the ''blood vessel-Zangfu organ-syndrome differentiation and treatment'' network is built, on the basis of which a pattern of vascular disease-Zangfu organ dysfunction-syndrome differentiation and treatment is applied to the TCM diagnosis and treatment of panvascular diseases. The theory of treating arterial system diseases from the heart, venous system diseases from the kidneys, and microvascular system diseases from the liver is proposed. According to the causes identified based on syndrome differentiation, this paper summarizes the methods of reinforcing Yang and activating blood (including warming Yang and activating blood, replenishing Qi and activating blood, replenishing Qi, nourishing Yin and activating blood, activating Yang and blood, dispersing cold and activating blood), cooling blood and resolving stasis, tonifying kidney and promoting urination coupled with activating blood and dredging vessels, nourishing Yin and tonifying kidney coupled with activating blood and dredging vessels, and soothing liver and regulating Qi coupled with activating blood and dredging collaterals, as well as wind-extinguishing medicines, applied to the treatment of panvascular diseases, aiming to provide methods and ideas for the treatment of vascular diseases with TCM.

5.
Chinese Pharmacological Bulletin ; (12): 506-514, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1013643

RESUMO

Aim To investigate the effect of miR-141-5p/ZNF705A in chronic myeloid leukemia(CML)cell-derived exosome(Exo)on the adhesion of bone marrow mesenchymal stem cells(BMSCs). Methods The morphology and size of Exo in peripheral blood from CML patients and K562 cells were examined by electron microscopy and NTA particle size analysis. The expressions of Exo and BMSCs marker molecules and adhesion proteins in K562 cells were detected by qRT-PCR and Western blot before and after transfection. The adhesion ability of BMSCs was detected by cell adhesion assay, and the cellular activity of BMSCs was examined using CCK-8. miR-141-5p binding to ZNF705A was detected by luciferase assay. Results qRT-PCR results showed that miR-141-5p expression was significantly reduced in both CML patients and K562 cell-derived Exo. qRT-PCR, Western blot and other results showed that BMSCs in CML patients had significantly reduced the expression of adhesion proteins CD44 and CXCL12, and were able to phagocytose K562 cell-derived Exo. Further, K562-derived Exo was found to reduce CD44 and CXCL12 expression and adhesion in Exo-promoted BMSCs compared with CD34+ cells. Meanwhile, the results of dual luciferase reporter assay verified that miR-141-5p targeted binding to ZNF705A. Finally, we found ZNF705A could be targeted by up-regulating miR-141-5p expression in Exo of K562 cells, which in turn inhibited the adhesion of BMSCs. Conclusions K562 cells down-regulate miR-141-5p expression in Exo and inhibit the adhesion function of BMSCs by targeting ZNF705A, thus regulating the bone marrow hematopoietic function in CML patients.

6.
Chinese Journal of Medical Genetics ; (6): 113-119, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1009363

RESUMO

Spastic paraplegia type 4 (SPG4) is the most common type of autosomally inherited spastic paraplegia. Its main clinical features include typical simple hereditary spastic paraplegia, with neurological impairments limited to lower limb spasticity, hypertonic bladder dysfunction, and mild weakening of lower limb vibration sensation, without accompanying features such as nerve atrophy, ataxia, cognitive impairment, seizures, and muscle tone disorders. SPAST is the main pathogenic gene underlying SPG4, and various pathogenic SPAST variants have been discovered. This disease has featured a high degree of clinical heterogeneity, and the same pathogenic variant can have different age of onset and severity among different patients and even within the same family. There is a lack of systematic research on the correlation between the genotype and phenotype of SPG4, and the pathogenic mechanism has remained controversial. This article has provided a review for the clinical characteristics, pathogenic gene characteristics, correlation between the genotype and phenotype, and pathogenic mechanism of this disease, with an aim to provide reference for its clinical diagnosis and treatment.


Assuntos
Humanos , Paraplegia Espástica Hereditária/genética , Mutação , Espastina/genética , Paraplegia/genética , Fenótipo
7.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 176-185, 2024.
Artigo em Chinês | WPRIM | ID: wpr-999174

RESUMO

Coronary microvascular dysfunction (CMD) is one of the important causes of myocardial ischemia and non-obstructive coronary artery ischemic symptoms. However, effective diagnostic methods and targeted treatment strategies for CMD are currently lacking. According to traditional Chinese medicine (TCM), the comorbidity theory of "blood-vessel-cardiac collaterals" plays a central role throughout the entire development process of CMD. It suggests that in the clinical diagnosis and treatment of CMD, the treatment of blood, vessels, and cardiac collaterals should not be neglected. In light of this, insect medicines, known for their efficacy in promoting blood circulation, resolving stasis, and alleviating spasms, hold promise as a potential treatment for CMD. However, there is currently no research or summary on the use of insect medicines for the treatment of CMD. Therefore, this article took the comorbidity theory of "blood-vessel-cardiac collaterals" as the starting point and divided the pathogenesis of CMD into five evolution stages: Beginning in the blood (changes in blood components and hemorheology), progressing in the vessels (atheromatous plaque formation and unstable plaques), occurring in the cardiac collaterals (microvascular endothelial damage and microvascular constriction and spasms), ending in the cardiac collaterals (microvascular remodeling), and resulting in energy metabolism disorders throughout the process, so as to explore the pathogenesis and evolution of CMD. In addition, based on the modern pharmacological research on insect medicines, this article discussed the clinical application of insect medicines in the treatment of CMD from four aspects: Promoting blood circulation and removing blood stasis to relieve vessels' obstruction, relieving spasms to alleviate pain, combating poison with poison to disperse stagnation, and tonifying cardiac collaterals to nourish the heart, which aims to provide a theoretical basis for the use of TCM in treating CMD, broaden the scope of medication, and improve clinical efficacy.

8.
Journal of Public Health and Preventive Medicine ; (6): 35-38, 2023.
Artigo em Chinês | WPRIM | ID: wpr-959042

RESUMO

Objective To analyze the epidemiological characteristics of pulmonary tuberculosis in the elderly people in Wuhan during 2016-2020, and to provide a basis for formulating effective prevention and control strategies and measures. Methods Using the National Tuberculosis Information Management System, a descriptive statistical analysis was performed on the medical records of elderly (≥60 years old) pulmonary tuberculosis patients registered in Wuhan from 2016 to 2020. Results A total of 9 427 elderly pulmonary tuberculosis patients were registered in Wuhan during 2016-2020, accounting for 32.07% of the total number of registrations in the whole population. The reported incidence rate of tuberculosis in the elderly was significantly higher than that in the total population, and the reported incidence rates in both the elderly and the general population showed declining trends (whole population χ2trend=216.97, P2trend=153.57, P<0.05). The time distribution showed that more cases occurred from April to November (70.90%). The top three districts with the largest number of registered cases were far urban areas, namely Huangpi District (13.81%), Xinzhou District (11.55%), and Jiangxia District (9.82%). The ratio of male to female with pulmonary tuberculosis in elderly patients was 2.85:1. Among the elderly pulmonary tuberculosis, the most registered cases were in the age group of 60 ~ years old, followed by 65 ~ years old. The proportion of smear-positive in elderly patients with pulmonary tuberculosis retreatment was 16.83%. Conclusion From 2016 to 2020, the epidemic situation of elderly pulmonary tuberculosis showed a downward trend in Wuhan. However, the elderly population with tuberculosis registrations still accounted for a relatively high proportion of the total population. According to the epidemiological characteristics of pulmonary tuberculosis among the elderly, the city should carry out tuberculosis prevention and control work in a timely, appropriate and focused manner.

9.
Chinese Medical Ethics ; (6): 606-612, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1005677

RESUMO

With the rapid development of clinical trials, the relevant medical research and molecular detection based on biological samples are closely related to the progress of clinical trials, making the role of biological samples in clinical trials increasingly obvious. The standardized supervision mode of biological samples is an important prerequisite for carrying out high-quality clinical trials. Although the laws and regulations related to clinical trials are becoming more and more perfect, there are still a large number of adverse events related to biological samples, which seriously affects the progress and results of clinical trials, and is one of the important challenges currently facing. Therefore, it is urgent to enhance the supervision of biological samples and improve the management methods of biological samples in clinical trials at this stage. Through in-depth discussion of the current status of biological sample management in clinical trials at home and abroad, this paper analyzed the issues existed during the supervision of biological samples, and supplemented the biological sample management methods by further combing the existing relevant laws and regulations and the Guidelines for the Ethical Management of Biological Samples in Clinical Trials, with a view to providing suggestions and ideas for optimizing the management mode of biological samples in clinical trials.

10.
Chinese Journal of Blood Transfusion ; (12): 1140-1142, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1003951

RESUMO

【Objective】 To investigate the possible molecular pathogenesis of a child with hemophilia A accompanied by coagulation factor Ⅺ reduction by testing coagulation-related indicators and genotyping in the child and his family. 【Methods】 Peripheral blood from the patient and his parents for detection of coagulation factors Ⅷ, Ⅸ, Ⅺ, Ⅻ, VWF∶Ag, lupus anticoagulants and F VIII, F XI inhibitors were collected. All exons and flanking sequences of the genes encoding FⅧ and FⅪ were sequenced and bioinformatically analyzed. 【Results】 The child had low FⅧ and FⅪ activity and no parental abnormalities were observed. The sequencing results showed that there was a c. 1834(exon12) C>T heterozygous mutation in the FⅧ gene and a c. 1817 (exon15) G>A heterozygous mutation in the FⅪ gene, which was de novo. Bioinformatics analysis shows that the FⅪ mutation changes the original protein structure and increases the number of carboxyl groups. 【Conclusion】 For patients with prolonged APTT, in addition to excluding factors that interfere with APTT testing, all coagulation factors related to APTT should be tested to clarify the diagnosis.

11.
China Occupational Medicine ; (6): 312-316, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1003859

RESUMO

Objective To investigate the characteristics and liver function of the population with occupational exposure to hepatotoxicants. Methods A total of 17 093 workers with occupational hepatotoxicants exposure who underwent occupational medical examination during their employment in a occupational medical examination institution of Shanghai in 2021 were selected as the research subjects by judgement sampling method. Occupational medical examination data were collected, and the prevalence of abnormal liver function and fatty liver were analyzed. The association between hepatotoxicants exposure and abnormal liver function were analyzed. Results The median and the 0th-100th percentiles of the duration of exposure to hepatotoxicants was 6.5(1.0-42.0) years. The prevalence of fatty liver was 48.4% and the incidence of abnormal liver function was 23.7%. Among the workers with fatty liver, the prevalence of abnormal liver function was higher in workers exposed to metals, metalloids and their compounds than in unexposed workers (33.9% vs 30.0%, P<0.01). The results of multivariate logistic regression analysis demonstrated that the risk of abnormal liver function increased with the number of different hepatotoxicants mixed exposures (all P<0.01), after correcting for confounding factors including gender, age, years of exposure, marital status, drinking, hypertension, fatty liver and blood sugar. Conclusion Exposure to hepatotoxicants is a risk factor for abnormal liver function. The more diverse types of hepatotoxicants an individual is exposed to, the stronger the association with this risk.

12.
Chinese Journal of Biochemistry and Molecular Biology ; (12): 1191-1199, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1015629

RESUMO

The spider neurotoxin hainantoxin-IV(HNTX-IV), which is isolated from the crude venom of the spider Selenocosia hainana, can specifically inhibit the tetrodotoxin-sensitive(TTX-S) sodium channel, and can selectively inhibit Voltage-gated sodium channel(VGSC) Na

13.
Chinese Journal of Biochemistry and Molecular Biology ; (12): 857-869, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1015612

RESUMO

Atherosclerosis involving peripheral arteries can cause skeletal muscle lesions, in which oxidative damage is an important manifestation, and atherosclerosis also reduces the production and secretion of beneficial myokines. Irisin, musclin and β-aminoisobutyric acid (BAIBA) are thought to be involved in improving atherosclerosis. However, the molecular mechanism of atherosclerosis-induced skeletal muscle lesions and the effects of aerobic exercise training on the oxidative damage of skeletal muscle and myokine production remain unclear. In this study, apolipoprotein E knockout (ApoE

14.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 1067-1072, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1014711

RESUMO

Pulmonary fibrosis is a common chronic interstitial lung disease. It is characterized by excessive deposition of extracellular matrix and remodeling of lung tissue structure, resulting in severe impairment of lung function. The cause of its pathogenesis is still unclear. Therefore, it is urgent to explore its pathogenesis and find new targets to combat pulmonary fibrosis. Studies have shown that nuclear factor erythroid 2-related factor 2 can maintain the body's redox homeostasis by regulating antioxidant genes and combining antioxidant response components, thereby protecting tissues and cells from oxidative stress. In recent years, many studies have proved that nuclear factor erythroid 2 -related factor 2 can play an anti-fibrotic role by alleviating oxidative stress, inhibiting macrophage polarization, activating autophagy, inhibiting ferroptosis, and blocking epithelial-mesenchymal transition. This paper provides a brief review of the association and research progress of nuclear factor erythroid 2-related factor 2 with pulmonary fibrosis, with the aim of providing a new direction for the precise treatment of pulmonary fibrosis.

15.
Chinese Journal of Clinical Pharmacology and Therapeutics ; (12): 235-240, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1014691

RESUMO

Pulmonary fibrosis is a chronic, progressive and irreversible respiratory disease characterized by hyperposition of extracellular matrix leading to inflammation and extensive lung remodeling. There is currently no effective treatment. Multiple studies have shown that metformin is a classic antiglycemic drug with antifibrotic potential. However, at present, there is no consensus on the specific mechanism of metformin's anti-fibrosis effect, and this paper reviews the research progress of metformin in the field of pulmonary fibrosis in recent years, mainly from IGF-1/IGF-1R/PI3K signaling, AMPK/mTOR signaling, TGF-β/Smad signaling pathway, and intervening in myofibroblast proliferation and apoptosis, improving oxidative stress, inhibiting epithelial interstitial transformation and transglutaminase. In order to be able to more deeply and comprehensively understand the antifibrosis mechanism and clinical application scope of metformin in the future, and provide new ideas for the treatment of pulmonary fibrosis.

16.
Chinese Pharmacological Bulletin ; (12): 193-199, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1013896

RESUMO

Aim To study the therapeutic effect of Balanophora polysaccharide(BPS)on gastric ulcer(GU)induced by acetic acid in rats and to investigateits mechanisms. Methods Sixty male SD rats were randomly divided into sham-operated group, GU model group, omeprazole positive group(3.6 mg·kg-1), and low, medium and high dose of BPS treatment groups(100, 200 and 400 mg·kg-1). The GU model group was prepared by acetic acid cautery method, and the morphology and pathological changes of ulcers were observed by visual observation combined with HE staining, and the ulcer area and inhibition rate were measured and calculated; superoxide dismutase(SOD)activity, malondialdehyde(MDA)content and glutathione peroxidase(GSH-PX)activity were measured by enzymatic assay; tumor necrosis factor-α(TNF-α)and interleukin-6(IL-6)content were detected by ELISA. The expression levels of epidermal growth factor(EGF)and epidermal growth factor receptor(EGFR)were measured by immunohistochemistry staining and Western blot. Results Compared with the sham-operated group, obvious ulcer damage was seen in the model group. Compared with the model group, the BPS-treated group showed a significant reduction in ulcer area, an increase in SOD and GSH-PX activity and EGF and EGFR expression levels, and a significant decrease in MDA, TNF-α and IL-6 content. Conclusions BPS has a therapeutic effect on GU in rats, and its mechanism may be related to the inhibition of oxidative stress, suppression of inflammatory stimuli and promotion of regenerative repair of gastric mucosa.

17.
Chinese Pharmacological Bulletin ; (12): 622-626, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1013806

RESUMO

Coronavirus disease-19 (COVID-19), a global epidemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), lead to lung injury in millions of people. SARS-CoV-2 can not only cause cytokine storm, acute respiratory distress syndrome and respiratory failure in the phase of acute infection, but also have potential long-term effects on the lungs. Survivors of severe COVID-19 may develop pulmonary fibrosis, resulting in permanent lung injury. In this review we expound the occurrence and development of COVID-19-related pulmonary fibrosis, summarize the key roles of TGF-p/Smad, TGF-fV MAPK, JAK/STAT, Wnt/(3-catenin, YAP/TAZ, NF-KB and PI3K/Akt signal pathways in this process, and analyze the advantages and disadvantages of antiviral drugs, anti-fibrosis drugs, cytokine-targeted drugs, corticosteroids, spironolactone, traditional Chinese medicine prescriptions and lung transplantation in its treatment. This review may provide a reference for the study of pathological mechanism and clinical treatment of COVID-19-re-lated pulmonary fibrosis.

18.
Chinese Pharmacological Bulletin ; (12): 1378-1384, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1013757

RESUMO

Aim To clarify the anti-rheumatoid arthritis effect of Tibetan medicine Pulicaria insignis (P. insignis),sift out the active parts against rheumatoid arthritis,and investigate the mechanism. Methods Rat rheumatoid arthritis (CIA) model was established with bovine type II collagen and incomplete Freund's adjuvant. The effects of the total extract of P. insignis, macroporous resin eluted parts with different concentrations of ethanol and Tripterygium Glycosides (GTW) on the degree of foot swelling in CIA rats were observed,the levels of tumor necrosis factor (TNF-α), intd rheumaerleukin-1β (IL-1β) antoid factor (RF) in serum of rats were detected, the pathological changes of synovial tissues were investigated, and the effects on MAPK/p38/NF-κB, TLR4/NF-κB protein expressions were explored by Western blot. Results Compared with the model group, the total extract of P. insignis and the eluted part of macroporous resin 60% ethanol could significantly reduce the degree of joint swelling in CIA rats, effectively improve the pathological changes of rats synovium tissues, and significantly reduce the levels of rat tumor necrosis factor (TNF-α), interleukin-1β (IL-1β) and rheumatoid factor (RF) in serum inflammatory factors, and markedly decrease the expression of related inflammatory proteins (TLR4, NF-κB, Myd88, p-p38, p-IκBα, iNOS, etc) in synovial tissue. Conclusions (1) P. insignis can relieve the symptoms of joint inflammation in rats with rheumatoid arthritis, and the eluted part of macroporous resin 60% ethanol of P. insignis is the effective active part for anti-rheumatoid arthritis. (2) The total and partial extracts of P. insignis can relieve arthritis symptoms in CIA rats through inhibiting the MAPK/ p38/NF-κB and TLR4/NF-κB signaling pathways.

19.
Chinese Journal of Preventive Medicine ; (12): 253-258, 2023.
Artigo em Chinês | WPRIM | ID: wpr-969875

RESUMO

The molecular genetic characteristics of a family with rare -88 C>G (HBB: c.-138 C>G) β-thalassemia gene mutation were studied using cohort study. The cohort study was conducted from June to August 2022 by Prenatal Diagnosis Center of Sanya Women and Children's Hospital Managed by Shanghai Children's Medical Center. The phenotype and genotype were analyzed by hematological cytoanalyzer, automatic electrophoretic analysis system, and next-generation sequencing (NGS). And then, Sanger sequencing was used to verify the rare gene results. The results showed that the proband, her father, her uncle and her younger male cousin had discrete microcytosis (MCV 70.1 fl, 71.9 fl, 73.1 fl and 76.6 fl, respectively) and hypochromia (MCH 21.5 pg,22.0 pg,22.6 pg and 23.5 pg, respectively), elevated hemoglobin A2 level (5.3%, 5.4%, 5.4% and 5.5%, respectively), slightly elevated or normal fetal hemoglobin (Hb F), but no anemia. The proband was identified to have co-inherited ɑ-thalassemia (Hb Westmead gene heterozygous mutation, ɑwsɑ/ɑɑ) and β-thalassemia with a rare -88 C>G (HBB: c.-138 C>G) heterozygous mutation (β-88 C>G/βN). Her mother had the same α-thalassemia as the proband. Her father, her uncle and her younger male cousin had the same rare -88 C>G heterozygous mutations as the proband. While her grandmother and younger brother were not carrier of thalassemia. In conclusion, 4 cases of rare -88 C>G(HBB:c.-138 C>G) heterozygous mutation had been detected in a Chinese family. Carriers of this beta-thalassemia are clinically asymptomatic. This study enriches the knowledge of the thalassemia mutation spectrum in Chinese people and provides valuable information for genetic counseling, prenatal diagnosis, and prevention of thalassemia, providing a scientific basis for improving the quality of birth population and preventing birth defects.


Assuntos
Feminino , Humanos , Masculino , Talassemia alfa/genética , Globinas beta/genética , Talassemia beta/diagnóstico , China , Estudos de Coortes , Genótipo , Biologia Molecular , Mutação
20.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 216-223, 2023.
Artigo em Chinês | WPRIM | ID: wpr-969618

RESUMO

Heart failure refers to a group of clinical syndromes caused by structural or functional abnormalities of the heart that lead to impaired ejection or filling of the ventricles. The traditional Chinese medicine (TCM) theory of cardiac and renal coordination holds that the kidney governs water and plays a key role in maintaining the balance of fluid metabolism. Therefore, the treatment of water retention in heart failure can start from the heart and kidney. The basic pathogenesis of heart failure is kidney deficiency, blood stasis, and water stagnation, and the therapies including dredging the heart and kidneys, warming yang and excreting water, tonifying kidneys and activating blood, and dredging meridians and collaterals. Aquaporins (AQPs), the key molecular basis of water metabolism, are involved in the pathogenesis of water retention in heart failure together with the arginine vasopressin system (AVP), renin-angiotensin-aldosterone system (RAAS), and diuretic resistance. Studies have shown that herbal medicines that regulate the heart and kidney can alleviate water retention in heart failure by targeting AQPs, thereby delaying or even reversing the progression of heart failure. This paper expounds the TCM name and pathogenesis of heart failure from the theory of cardiac and renal coordination, the role of AQPs in the pathogenesis of water retention in heart failure, and the modern connotation of the therapy of tonifying heart and kidney for heart failure, aiming to provide ideas for the prevention and treatment of water retention in heart failure by TCM.

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