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OBJECTIVE@#To explore the genetic basis for a pedigree affected with Alport syndrome.@*METHODS@#Next generation sequencing and Sanger sequencing was applied to detect potential variants of the COL4A3, COL4A4 and COL4A5 genes among members from the pedigree and 100 unrelated healthy controls.@*RESULTS@#The proband and his twin brother were found to carry two novel variants, namely c.4953G>A and c.4623C>A, of the COL4A4 gene, which were respectively inherited from her father and mother. The same variants were not detected among the 100 healthy controls and medical literature. Based on the guidelines of the American College of Medical Genetics and Genomics, both the c.4953G>A and c.4623C>A variants were predicted to be pathogenic (PVS1+PM2_supporting+PP1).@*CONCLUSION@#The c.4953G>A and c.4623C>A variants of the COLA4A gene probably underlay the Alport syndrome in this pedigree. Above finding has enriched the spectrum of COLA4A gene variants.
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Criança , Feminino , Humanos , Masculino , Autoantígenos/genética , Colágeno Tipo IV/genética , Mutação , Nefrite Hereditária/genética , LinhagemRESUMO
Objective To observe the effect of Qi-strengthening and blood-activating Chinese patent medicine Qigui Ershen Granules on the carotid intima-media thickness(IMT ) , atheromatous plaque scores, serum fibroblast growth factor 23 (FGF23) and Klotho protein levels, and oxidation- and inflammation-associated indicators in carotid atherosclerosis patients. Methods Fifty-two carotid atherosclerosis patients were randomized into Chinese medicine group and western medicine group, 26 cases in each group. Chinese medicine group was treated with Qigui Ershen Granules orally, and western medicine group was treated with Atorvastatin Calcium Tablets orally. The mediation for the two groups lasted for 24 continuous weeks. Carotid ultrasonography was performed before and after treatment for the examination of carotid IMT and plaque Crouse scores. Double antibody sandwich enzyme-linked immunosorbent assay(ELISA) was applied for the detection of serum Klotho, FGF23, interleukin 1(IL-1) and tumor necrosis factorα(TNF-α) levels, and radio-immuno-precitation method was used for the assay of serum reactive oxygen species (ROS), malondialdehyde (MDA) and superoxide dismutase (SOD) levels. The clinical efficacy of the two groups was evaluated by the scores of Qi deficiency syndrome and blood stasis syndrome before and after treatment. Results (1) In western medicine group, 5 cases dropped out and were excluded, and a total of 21 cases completed the trial; in Chinese medicine group, 3 cases dropped out and were excluded, and a total of 23 cases completed the trial.(2) After treatment for 24 continuous weeks, IMT and Crouse scores of the plaque in the two groups were obviously reduced(P 0.05). (3) Serum Klotho protein level was increased while FGF23 was decreased in Chinese medicine group after treatment (P 0.05). The effects of Chinese medicine on increasing Klotho protein level and decreasing FGF23 level were superior to those of western medicine (P 0.05).(5) The scores of Qi deficiency syndrome and blood stasis syndrome in Chinese medicine were decreased after treatment (P 0.05). Chinese medicine group had better effect on improving the scores of Qi deficiency syndrome and blood stasis syndrome than western medicine group(P < 0.01).(6) After treatment, the total effective rate for improving Qi deficiency syndrome and blood stasis syndrome in Chinese medicine group was 82.61%, 78.26%, and that in western medicine group was 28.57%, 14.28%respectively, the difference being significant (P<0.01). Conclusion Qi-strengthening and blood-activating Qigui Ershen Granules have certain effects on counteracting atherosclerosis, inflammatory aging and oxidation.
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Chemical modification of DNA bases in recent years has been one of the hot areas of life science research. DNA methylation is a common epigenetic phenomenon and can change the genetic performance without changing the DNA sequence. Various stress factors can induce the variation of DNA methylation in plants, but the response mechanism is still unknown. In this paper, the progress of DNA methylation in plants was reviewed. In combination with the researchconclusions of our own research group, the DNA methylation variation induced by 7Li ion beam and gamma ray was reported to provide a basis for DNA methylation, which may be involved in the phenotypic plasticity of plants.
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Metilação de DNA , Epigênese Genética , Epigenômica , Plantas , GenéticaRESUMO
Objective To evaluate the clinical efficacy and safety of integrated traditional Chinese and Western medicine in treating active rheumatoid arthritis (aRA).Methods A prospective randomized controlled study was carried out. Totally 148 aRA patients were divided into the control group and the treatment group, 74 cases in each group. Control group was treated with MTX (methotrexate) and LEF (leflunomide), while the treatment group took traditional Chinese medicine based on syndrome differentiation, on the basis of treatment with MTX and LEF. The therapeutic course for all was 3 months. Efficacy indexes, like clinical symptoms and signs, ESR, TCM syndrome integrals, DAS 28 score, and safety indexes were observed.Results This study finally completed 136 cases, including 69 cases in the treatment group and 67 cases in the control group. In the two groups, significant improvement of clinical signs and symptoms, ESR, DAS28, and TCM syndrome integrals after treatment were shown, with statistical significance (P0.05). The significant efficiency of the treatment group was 11.59% (8/69), and the control group was 5.97% (4/67), with statistical significance (P<0.05). Adverse reactions occurred fewer in the treatment group than in the control group (P<0.01).Conclusion Compared with single traditional Chinese medicine, integrated traditional Chinese and Western medicine for treating aRA can better improve DAS28 and TCM syndrome integrals, and reduce the incidence of adverse reactions.
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Mast cells and monocyte-macrophage cells share similar phenotypic characteristics.In recent years, it has been found that mast cell plays a role in the many pathophysiological processes such as the chronic inflammation, angiogenesis, and tissue remodeling and progressive fibrosis.More and more evidences showed that mast cells played a catalytic role in the renal chronic inflam-mation and progressive fibrosis and were related to the development and prognosis in patients with chronic kidney disease( CKD) .This paper will review the pathogenesis of renal injury induced by mast cells, especially in promoting the renal fibrosis in order to provide some new ideas for treatment and prognosis evaluation of CKD patients.
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Objective Summarize the clinical nursing keys and experiences for tranplantation of leg island flap. Methods Follow- up 111 patients with transplantation of leg island flap. Results There were 109 patients had accepted survival of island flap, their function of wounded limb were recoveried satisfactory by one- year follow up. There were 2 amputation patients because of disturbance of blood circulation of distal wounded limb. Conclusions Careful perioperative nursing and observation are the keys of survival for tranplantation of leg island flap. Proper rehabilitaiton education can guarantee the satisfactory prognosis.
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Objective:To investigate the clinical characteristics of renal injury caused by Guanxinsuhe pill(冠心苏合丸,including slander dutchanspipe root(青木香)).Methods:The clinical data of 27 patients with renal injury caused by Guanxinsuhe pill were studied.The clinical characteristics of the renal damage caused by Guanxinsuhe pill and the relationships between duration of illness,duration of taking Guanxinsuhe pill,anemia,renal atrophy and the progression of renal injury respectively were also analyzed.Results:Twenty-seven patients all taken Guanxinsuhe pill for suspicious coronary heart disease(CHD) and were diagnosed as chronic tubulointerstitial nephropathy accompanied with renal tubular acidosis,renal glucosuria and hyposthenuria after admission.Anemia was of more severity than renal dysfunction.Atrophic kidney occurred in 26 patients.The main complains were nonspecific symptoms including fatigue,anorexia,nausea,vomiting,etc.and accompanied with different degrees of chronic renal dysfunction.Twentyfour hours urinary protein excretions were 120-900 mg((490?250) mg).There were few red and white cells in uroscopy.Sixteen patients discontinuously took the Guanxinsuhe pill(one capsule,2-3 times a day) according to the pharmacopoeia for a long period.Ten patients took a dosage(two capsules,2-3 times a day) higher than that limited by the pharmacopoeia.Twenty-six patients took Guanxinsuhe pill discontinuously.One patient continuously took Guanxinsuhe pill until got renal dysfunction.The duration of taking Guanxinsuhe pill was 1-120 months(37.38?31.58),and the amount of 50-43 800 pills(4 576.00?8 830.54) were used,but the amount of pills of 3 cases was uncertain.The renal injury occurred within 30-216 months(95.41?56.74) after initiation of the drug taken.The renal injury obviously correlated with the anemia and the duration of taking Guanxinsuhe pill.Conclusion:Taking Guanxinsuhe pill can cause renal injury.The Guanxinsuhe pill dose indicated in pharmacopoeia also causes renal damage.The onset of renal injury is insidious.Most of the patients have the history of CHD and when the chronic nephropathy in most of such patients is detected,it is advanced to stage 5.The renal injury induced by Guanxinsuhe pill usually presents as chronic tubulointerstitial nephropathy,renal tubular dysfunction and anemia.Anemia is of more severity than renal dysfunction.The 24 hours urinary protein excretions of all the patients are lower than 1 000 mg daily.It is suggested to avoid taking Guanxinsuhe pill,adjust the prescription of Guanxinsuhe pill and do not use slander dutchanspipe root as an ingredient.