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1.
Cancer Research on Prevention and Treatment ; (12): 531-537, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986227

RESUMO

Programmed cell death (PCD) is a genetically determined, active and orderly cell death in the organism, and it affects the evolution of the organism, maintenance of its homeostasis, and development of several tissues and organs. The abnormal regulation of this process is closely related to various human diseases, including cancer. The identified pathways of PCD include apoptosis, autophagy, necroptosis, pyroptosis, and ferroptosis, which can be activated when cells are stimulated by various internal and external environmental factors. These pathways can induce cell death or maintain cell survival in kidney cancer cells under the regulation of various signaling molecules, thus affecting tumor progression or therapeutic efficacy. In this paper, the role of these PCD pathways in the development of kidney cancer was reviewed in light of recent research advances to provide new directions for the in-depth study of the pathogenesis of kidney cancer and the development of targeted antitumor drugs.

2.
Journal of Pharmaceutical Analysis ; (6): 653-663, 2022.
Artigo em Chinês | WPRIM | ID: wpr-955478

RESUMO

MicroRNA-21(miRNA-21)is highly expressed in various tumors.Small-molecule inhibition of miRNA-21 is considered to be an attractive novel cancer therapeutic strategy.In this study,fluoroquinolone de-rivatives Al-A43 were synthesized and used as miRNA-21 inhibitors.Compound A36 showed the most potent inhibitory activity and specificity for miRNA-21 in a dual-luciferase reporter assay in HeLa cells.Compound A36 significantly reduced the expression of mature miRNA-21 and increased the protein expression of miRNA-21 target genes,including programmed cell death protein 4(PDCD4)and phos-phatase and tensin homology deleted on chromosome ten(PTEN),at 10 uM in HeLa cells.The Cell Counting Kit-8 assay(CCK-8)was used to evaluate the antiproliferative activity of A36;the results showed that the IC50 value range of A36 against six tumor cell lines was between 1.76 and 13.0 μM.Meanwhile,A36 did not display cytotoxicity in BEAS-2B cells(lung epithelial cells from a healthy human donor).Furthermore,A36 significantly induced apoptosis,arrested cells at the G0/G1 phase,and inhibited cell-colony formation in HeLa cells.In addition,mRNA deep sequencing showed that treatment with A36 could generate 171 dysregulated mRNAs in HeLa cells,while the expression of miRNA-21 target gene dual-specificity phosphatase 5(DUSP5)was significantly upregulated at both the mRNA and protein levels.Collectively,these findings demonstrated that A36 is a novel miRNA-21 inhibitor.

3.
Chinese Journal of Radiation Oncology ; (6): 24-28, 2022.
Artigo em Chinês | WPRIM | ID: wpr-932622

RESUMO

Radiotherapy is one of the most important components of cancer treatment. Image-guided radiotherapy (IGRT) is the mainstream tool in the precision radiation oncology. Magnetic resonance (MR) accelerator can perform MRI for tumors during radiotherapy, deliver real-time tracing and monitoring of tumors and thus realize the MRI-guided adaptive radiotherapy. Here, the latest research status and clinical application of MR accelerator in lung cancer were reviewed.

4.
Chinese Journal of Radiation Oncology ; (6): 660-665, 2022.
Artigo em Chinês | WPRIM | ID: wpr-956893

RESUMO

Small cell lung cancer (SCLC) is a poorly differentiated, rapidly aggressive and highly chemoradio-sensitive malignancy. Recent research finds that stereotactic body radiation therapy (SBRT) is well tolerated in the treatment of early-stage SCLC with excellent locoregional control rates. This paradigm could offer comparable overall survival and cancer-specific survival with surgery or conventional concurrent chemoradiotherapy. Presently, SBRT has become one of the standard treatment options for patients with stage I-IIA SCLC. Due to the enlightened role of SBRT in the treatment of SCLC, this review aims to discuss the clinical research to date in the application status, clinical value and developing tendency of SBRT in the treatment of patients with early-stage SCLC.

5.
Acta Physiologica Sinica ; (6): 828-834, 2021.
Artigo em Chinês | WPRIM | ID: wpr-921286

RESUMO

As a kind of mental illness, depression produces great difficulties in clinical diagnosis and treatment, and has a high disability rate. It is urgent to clarify the mechanism of depression to find potential therapeutic targets and effective clinical treatment methods. As a deacetylase, silent mating type information regulator 2 homolog 1 (SIRT1) is involved in many biological processes such as cell aging, cancer, and cardiovascular disease. In recent years, more and more studies have found that SIRT1 gene plays an important role in the pathogenesis of depression, but the mechanism is still unclear. Therefore, this review mainly summarizes the relevant research progress on the role and mechanism of SIRT1 gene in the hippocampus, prefrontal cortex, amygdala, hypothalamic suprachiasmatic nucleus, and nucleus accumbens in depression, in order to provide new ideas for exploring the mechanism and prevention of depression.


Assuntos
Humanos , Senescência Celular , Depressão/genética , Hipocampo/metabolismo , Núcleo Accumbens , Sirtuína 1/metabolismo
6.
International Eye Science ; (12): 1257-1259, 2020.
Artigo em Chinês | WPRIM | ID: wpr-822255

RESUMO

@#AIM: To explore the prevalence of outer retinal tubulation(ORT)in nAMD patients treated with anti-VEGF and the frequency of anti-VEGF therapy before and after ORT appearance.<p>METHODS:Sixty eyes of 54 patients were included in the study(treated with ranibizumab by pro re nata regimen(PRN)and followed up for 24mo. At baseline, patients underwent fluorescein fundus angiography(FFA), fundus color photography(CFP), best corrected visual acuity(BCVA)and macular optical coherence tomography(OCT), and followed up monthly thereafter. The subretinal hyper reflective material(SHRM)and ORT was recorded at baseline, and the time of new appearance of outer retinal tubulation structure during followup also was noted. The average number of intravitreal injections before and after ORT was compared. The BCVA and central retinal thickness(CRT)were compared between ORT eyes and non-ORT eyes. <p>RESULTS: ORT was found in 15.0%, 21.7%, 25.0% and 46.7% of patients at baseline. After ORT appearance, the average number of injections of anti-VEGF per month decreased(Whitman <i>U</i> test, <i>P</i>=0.006), and the difference was statistically significant. At baseline, 78.3% of the eyes had SHRM, 66.0% of which eventually had ORT, while at baseline, there was only 23.1% of the eyes had ORT in no SHRM eyes, with a relative risk of 2.86(<i>P</i><0.01). The BCVA and CRT were worse in ORT eyes than those in non-ORT eyes. <p>CONCLUSION: ORT increases gradually with the prolongation of the course of the disease, and the frequency of anti-VEGF retreatment decreases after the occurrence of ORT.

7.
Chinese Journal of Nephrology ; (12): 703-710, 2020.
Artigo em Chinês | WPRIM | ID: wpr-871004

RESUMO

Objective:To explore the effect of the interaction between estimated glomerular filtration rate (eGFR) and serum uric acid (SUA) on all-cause and cardiovascular mortality in patients on peritoneal dialysis (PD).Methods:Patients who performed PD catheterization at the PD center of the First Affiliated Hospital of Sun Yat-sen University and had initiated PD therapy for over 3 months from January 2006 to December 2016 were enrolled and followed up until December 2018. Demographic data, baseline clinical and laboratory examination results of the patients were collected. Kaplan-Meier survival curve and Cox regression analysis were used to explore the correlation between SUA and all-cause mortality, cardiovascular mortality in different eGFR groups of PD patients.Results:A total of 2 124 PD patients were enrolled with age of (47.0±15.2) years, among whom 1 269 patients were male and 536 patients had diabetes. The SUA level was (429±96) μmol/L and the median level of eGFR was 6.69(5.17, 8.61) ml·min -1·(1.73 m 2) -1. After a median follow-up time of 42 months, 554 patients died, among whom 275 patients were cardiovascular death. The Cox regression analysis revealed that there was a significant interaction between eGFR and SUA on all-cause mortality ( P=0.043). The Kaplan-Meier curve showed that the tertile 1 (SUA<384 μmol/L) and tertile 3 (SUA>460 μmol/L) group had significantly higher all-cause mortality ( P=0.009) than the reference group of tertile 2 (SUA 384-460 μmol/L) in the higher eGFR group [eGFR>6.69 ml·min -1·(1.73 m 2) -1]but not in the lower eGFR. After adjusting for relevant demographic data, complications, biochemical results and other variables, in patients with higher eGFR, the risk of all-cause mortality increased by 0.2% ( HR=1.002, 95% CI 1.000-1.003, P=0.019) for every 1 μmol/L increase in SUA. In addition, compared with the tertile 2 reference group, the tertile 3 group was independently correlated with higher risk of all-cause mortality ( HR=1.670, 95% CI 1.242-2.245, P=0.001). Conclusions:The eGFR and SUA level significantly interacts with all-cause mortality, and the higher SUA level in higher eGFR group is an independent risk factor for all-cause mortality in PD patients.

8.
Chinese Medical Journal ; (24): 1472-1479, 2018.
Artigo em Inglês | WPRIM | ID: wpr-688095

RESUMO

<p><b>Background</b>LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes.</p><p><b>Methods</b>Twenty-two patients with LMNA-related muscular dystrophies were enrolled in this study. MRI of the thigh and/or calf muscles was performed in them. The muscle MRI features of the three subtypes were compared by the Mann-Whitney U-test. The relationship between the clinical and MRI findings was also investigated by Spearman's rank analyses.</p><p><b>Results</b>The present study included five EDMD, nine LGMD, and eight L-CMD patients. The thigh muscle MRI revealed that the fatty infiltration of the adductor magnus, semimembranosus, long and short heads of the biceps femoris, and vasti muscles, with relative sparing of the rectus femoris, was the predominant change observed in the EDMD, LGMD, and advanced-stage L-CMD phenotypes, although the involvement of the vasti muscles was not prominent in the early stage of L-CMD. At the level of the calf, six patients (one EDMD, four LGMD, and one L-CMD) also showed a similar pattern, in which the soleus and the medial and lateral gastrocnemius muscles were most frequently observed to have fatty infiltration. The fatty infiltration severity demonstrated higher scores associated with disease progression, with a corresponding rate of 1.483 + 0.075 × disease duration (X) (r = 0.444, P = 0.026). It was noteworthy that in six L-CMD patients with massive inflammatory cell infiltration in muscle pathology, no remarkable edema-like signals were observed in muscle MRI.</p><p><b>Conclusions</b>EDMD, LGMD and advanced-staged L-CMD subtypes showed similar pattern of muscle MRI changes, while early-staged L-CMD showed somewhat different changes. Muscle MRI of L-CMD with a muscular dystrophy pattern in MRI provided important clues for differentiating it from childhood inflammatory myopathy. The fatty infiltration score could be used as a reliable biomarker for outcome measure of disease progression.</p>


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem , Imageamento por Ressonância Magnética , Métodos , Distrofias Musculares , Diagnóstico por Imagem , Distrofia Muscular do Cíngulo dos Membros , Diagnóstico por Imagem , Distrofia Muscular de Emery-Dreifuss , Diagnóstico por Imagem
9.
Chinese Journal of Laboratory Medicine ; (12): 116-121, 2018.
Artigo em Chinês | WPRIM | ID: wpr-712112

RESUMO

Objective To investigate the genetic diversity of MICA, and to analyze the correlation between genetic polymorphisms of MICA and T1DM in population of Han and Li nationalities in Hainan province.Methods This study was performed as a case-control study.Fifty-five individuals with T1DM and Fifty-five healthy controls of Han and Li nationalities from Wuzhishan, Lingshui, Qiongzhong, Baisha, Ledong,Changjiang, Dongfang and Haikou regions in Hainan province(35 Male,20 Female of T1DM of Han;28 Male,27 Female of healthy controls of Han; 33 Male,22 Female of T1DM of Li; 28 Male, 27 Female of healthy controls of Li), were enrolled for the study.MICA allelic variation was analyzed by sequencing-based typing(PCR-SBT).Fisher′s exact test was performed to determine the statistical significance of the distribution and allele frequency of MICA.Results In healthy population,11 MICA-sequence and 5 MICA-STR alleles were found in Han nationality, while 13 MICA-sequence and 5 MICA-STR alleles were detected in Li nationality.The MICA-sequence allele MICA*008:01 and the MICA-STR allele MICA-A5 were most frequently observed in Han nationality[30.85%(29/94)and 41.49%(39/94), respectively],while MICA*002:01 and A4 were the most common in Li nationality[21.57%(22/102) and 36%(36/100), respectively].Among patients with T1DM, 10 MICA-sequence and 5 MICA-STR alleles were detected in Han, and 9 MICA-sequence and 5 MICA-STR alleles were found in Li.MICA*002:01 and A9 were most frequently observed in Han[29%(29/100),29.29%(29/99),respectively], while MICA*012:01, MICA*002:01 and the A4 were the most common in Li[21.15%(22/104), 21.15%(22/104),38.24%(39/102), respectively].The allelic frequency of MICA*002:01, MICA*010, MICA-A5, MICA-A6 and MICA-A9 between the healthy population and T 1DM patients of Han nationality(5.32%,22.34%,41.49 %,9.58%,6.38%, respectively in healthy population;29%,7%, 26.26%,2.02%,29.29%, respectively in T1DM patients), exist significant difference(χ2value were 18.799,9.233,5.218,5.197,16.762, respectively.P value were 0.000,0.002, 0.025,0.024,0.000, respectively.all P<0.05),while no significant difference(all P>0.05)between the healthy population and T1DM patients of Li nationality.Conclusions The most common MICA alleles were MICA*008:01 and MICA-A5 in healthy population of Han nationality, while MICA*002:01 and MICA-A4 in healthy population of Li nationality.MICA*002:01 and MICA-A9 were high frequency in T1DM patients of Han population,while the MICA*010,MICA-A5 and MICA-A6 were low frequency.There was not any MICA alleles associated with T1DM in Li nationality.

10.
Journal of Southern Medical University ; (12): 817-820, 2017.
Artigo em Chinês | WPRIM | ID: wpr-360182

RESUMO

<p><b>OBJECTIVE</b>To investigate the correlation between blood concentrations of tacrolimus (FK506) and cystatin C (Cys C) and the effect of FK506 on glycolipid metabolism in renal transplant recipients.</p><p><b>METHODS</b>A total of 325 patients receiving renal transplantation between August, 2014 and September, 2015 in Nanfang Hospital were divided into 4 groups according to the postoperative time (1 month group, 1-3 months group, 4-6 months group, and 7-12 months group). FK506 blood trough concentration was measured at the time of postoperative follow-up, and creatinine (Scr) and Cys C levels were also detected. Results Plasma FK506 concentration decreased with age in the recipients and showed a positive correlation with Cys C (r=0.985, P=0.015) but no obvious correlation with Scr (r=0.259, P=0.741). FK506 had no effect on blood glucose (5.53-5.59 mmol<L) or blood lipids (TG 1.47-1.55 mmol<L, TC 5.04-5.17 mmol<L, LDL-C 3.00-3.07 mmol<L, and VLDL 0.73-0.76 mmol<L) in patients 1-6 months after renal transplantation.</p><p><b>CONCLUSION</b>FK506 does not affect the level of glycolipid metabolism in patients after renal transplantation. Cys C is positively related to blood concentration of FK506 in the renal transplantation recipients. The rational use of FK506 can improve the effectiveness and safety of the treatment in the recipients.</p>

11.
Journal of Southern Medical University ; (12): 967-974, 2017.
Artigo em Chinês | WPRIM | ID: wpr-360153

RESUMO

<p><b>OBJECTIVE</b>To optimize the formulation of an emollient for treatment of atopic dermatitis prepared using ceramide, sodium hyaluronate, paeonol, and camellia-seed oil.</p><p><b>METHODS</b>The emollients with different ratios of the 4 components were designed according to the L9(34)orthogonal table with 4 factors and 3 levels. The efficacy of the prepared emollients was tested in 4-6 week-old BALB/c mouse models of atopic dermatitis to determine the optimal formulation of the emollient by evaluating skin water content, transepidermal water loss (TEWL), pharmacodynamics and skin irritation.</p><p><b>RESULTS</b>Range analysis of the orthogonal table and analysis of variance showed that ceramide and camellia seed oil contents had the greatest impact on the skin water content and TEWL, respectively, and the optimal composition of the emollient contained the 4 components at the ratios of D1E1F1G1. Pharmacodynamic experiments showed that at high, medium and low doses, the emollient with the optimal formulation significantly improved the skin water content, pH and TEWL in the mice (P<0.05) with similar effects in the positive control group (P>0.05) and a skin irritation test score of 0.</p><p><b>CONCLUSION</b>The emollient we prepared can significantly improve skin water content, pH and TEWL in the mouse model of atopic dermatitis without skin irritations.</p>

12.
Chinese Health Economics ; (12): 46-50, 2017.
Artigo em Chinês | WPRIM | ID: wpr-658800

RESUMO

Objective:To analyze the progress and challenges of China's health financing system,and raise some policy suggestions.Methods:Making qualitatively and quantitatively analysis of health financing level and structure,the mode of health inputs and the functions of funding agencies.Results:The development of the Chinese health financing system has made progress in certain aspects since 2009 when the new phase of Chinese health system reform was initiated.The total volume of health financing has been increasing yearly;the structure of health financing has been optimized;financing pattern has been clarified;the financial security level has been improved;input mechanism has been refined;the function of finaucing institutions has been adjusted accordingly.However,there are still some challenges,including lack of top-down design of health financing,high residents' out-of-pocket expenses,inadequate equity,lack of accompanying design fit for the need and demand of the poorest and the richest.Conclusion:It is suggested to improve the financing and management mode,raise the financing level of health insurance and optimize the efficiency of health funds,so as to further promote the construction of health financing system..

13.
Chinese Mental Health Journal ; (12): 768-774, 2017.
Artigo em Chinês | WPRIM | ID: wpr-668290

RESUMO

Objective:To explore the traits of gray matter volume (GMV) and regional homogeneity (ReHo) in patients with schizophrenia and obsessive-compulsive disorder (OCD) by magnetic resonance imaging technique (MRI).Methods:Twenty-two patients with schizophrenia,20 patients with OCD and 23 normal controls were recruited in this study.All of the patients satisfied diagnostic criteria from the Diagnostic and Statistical Manual of Mental Disorders,Fourth Edition (DSM-Ⅳ),patients and the normal controls were well matched for gender,age and years of education.All subjects received structural magnetic resonance imaging (MRI) scans and resting functional MRI scans.The ANOVA and post hoe anolysis were used to compoare the GMV and Relto differences among the subjects.Results:Compared with the normal controls,patients with schizophrenia and OCD had common GMV loss in the right anterior cingulate (P < 0.001,uncorrected),while lower ReHo in the left cuneus(P < 0.001,uncorrected) and higher ReHo in the left upper medial frontal gyrus(P < 0.001,uncorrected) respectively.Conclusion:It suggests that patients with schizophrenia and OCD share common structural changes and functional alterations,which could attribute so many similarities between the two diseases.

14.
Chinese Pharmacological Bulletin ; (12): 1645-1650, 2017.
Artigo em Chinês | WPRIM | ID: wpr-667984

RESUMO

Ets is one largest family of the transcription factors with complex structure and function of all family members. They play an important role in the regulation of many physiological and pathological processes through regulating embryonic develop-ment,cell growth,differentiation,cell apoptosis and interac-tions of cells under the regulation of MAP kinases(ERK,p38 and JNK),Ca2 + relevant signaling pathways and TGF-β path-ways. Notably,many Ets members involve in tumor genesis,in-vasion and metastasis,and these members may be markers of anticipating tumor genesis,development and prognosis. Here the physiological role of Ets family members and its relationship with human diseases are summarized,aiming to provide a theoretical basis for the study of the role of Ets family in human diseases.

15.
Chinese Health Economics ; (12): 46-50, 2017.
Artigo em Chinês | WPRIM | ID: wpr-661719

RESUMO

Objective:To analyze the progress and challenges of China's health financing system,and raise some policy suggestions.Methods:Making qualitatively and quantitatively analysis of health financing level and structure,the mode of health inputs and the functions of funding agencies.Results:The development of the Chinese health financing system has made progress in certain aspects since 2009 when the new phase of Chinese health system reform was initiated.The total volume of health financing has been increasing yearly;the structure of health financing has been optimized;financing pattern has been clarified;the financial security level has been improved;input mechanism has been refined;the function of finaucing institutions has been adjusted accordingly.However,there are still some challenges,including lack of top-down design of health financing,high residents' out-of-pocket expenses,inadequate equity,lack of accompanying design fit for the need and demand of the poorest and the richest.Conclusion:It is suggested to improve the financing and management mode,raise the financing level of health insurance and optimize the efficiency of health funds,so as to further promote the construction of health financing system..

16.
Chinese Medical Journal ; (24): 1811-1816, 2016.
Artigo em Inglês | WPRIM | ID: wpr-251298

RESUMO

<p><b>BACKGROUND</b>Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies.</p><p><b>METHODS</b>Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders (disease controls). T1-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri's scale. We assessed the sensitivity and specificity of the MRI features of collagen VI-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated.</p><p><b>RESULTS</b>Eleven patients with collagen VI gene mutation-related myopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius (P = 0.033); therefore, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A "target" sign in rectus femoris (RF) was present in seven cases, and a "sandwich" sign in vastus lateralis (VL) was present in ten cases. The "target" and "sandwich" signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96.9% for the diagnosis of collagen VI-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- or C-domain of the collagen VI genes.</p><p><b>CONCLUSIONS</b>The "target" sign in RF and "sandwich" sign in VL are common MRI features and are useful for the diagnosis of collagen VI-related myopathies. The severity of fatty infiltration of muscles may have a relationship with the mutation location of collagen VI gene.</p>


Assuntos
Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Adulto Jovem , Colágeno Tipo VI , Genética , Metabolismo , Imageamento por Ressonância Magnética , Músculo Esquelético , Patologia , Doenças Musculares , Genética , Metabolismo , Patologia , Mutação , Genética , Sensibilidade e Especificidade , Coxa da Perna , Patologia
17.
Chinese Medical Journal ; (24): 1419-1424, 2016.
Artigo em Inglês | WPRIM | ID: wpr-290059

RESUMO

<p><b>BACKGROUND</b>Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion disorder characterized by a triad of onset before 20 years of age, ophthalmoplegia, and pigmentary retinopathy. The heart and central nervous system are commonly involved. We summarized clinical and brain magnetic resonance imaging (MRI) features of a cohort of Chinese KSS patients.</p><p><b>METHODS</b>Nineteen patients confirmed by muscle biopsy and mtDNA analysis were enrolled. We examined clinical profiles, mainly focusing on changes in electrocardiogram (ECG) and brain MRI. The correlation between genotype and phenotype was statistically analyzed.</p><p><b>RESULTS</b>The mean age of onset was 9.6 ± 4.3 years, with all developing the classic triad at the time of diagnosis. Heart conduction block was detected in 63.2%, with four initially presenting as bundle branch block and developing into complete atrioventricular block over 3-72 months. Brain MRI showed symmetric high-T2 signals in 100% of cerebral and cerebellar white matter, as well as brainstem, 46.7% of basal ganglia, and 53.3% of thalamus. There were two patterns of cerebral white matter involvements, one with selective subcortical U-fibers and the other with periventricular white matter. The size of mtDNA deletion did not significantly correlate with age of onset or percentage of ragged blue fibers on muscle pathology.</p><p><b>CONCLUSIONS</b>The clinical features of KSS evolve dynamically, affecting the cardiac conduction system predominantly, highlighting the significance of ECG monitoring. Brain MRI showed changes involving both the white matter and deep gray nuclei. Clinical presentation or severity of muscle pathological changes is not related to the size of mtDNA deletions.</p>


Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Encéfalo , Patologia , Fisiologia , DNA Mitocondrial , Genética , Genótipo , Bloqueio Cardíaco , Diagnóstico , Genética , Síndrome de Kearns-Sayre , Diagnóstico , Genética , Imageamento por Ressonância Magnética , Métodos
18.
International Journal of Cerebrovascular Diseases ; (12): 279-283, 2016.
Artigo em Chinês | WPRIM | ID: wpr-492346

RESUMO

Inflammation plays a key role in the formation of intracranial aneurysm. At present, the pathophysiological processes of intracranial aneurysms are mainly caused by both hemodynamic abnormalities and inflammation. Studies have shown that the inflammatory cels in the intracranial aneurysm wal are mainly mononuclear macrophages, and can secrete various effector molecules, weakening and destroying the structures of the vessel wal . Therefore, the research of the roles of differences played in different subtypes of macrophages and their effector molecules in the pathophysiological processes of intracranial aneurysms wil provide clues for exploring the pathogenesis of intracranial aneurysms and effective targeted therapy.

19.
Journal of Central South University(Medical Sciences) ; (12): 276-280, 2015.
Artigo em Chinês | WPRIM | ID: wpr-815172

RESUMO

OBJECTIVE@#To detect the levels of neutrophil gelatinase-associated lipocalin (NGAL), cystatin C (Cys-C ) in blood and the level of kidney injury molecule 1 (KIM-1) in urine in elderly patients with renal calculi at diff erent times, and to explore the eff ect of percutaneous nephrostolithotomy (PCNL) combined with flexible ureteroscopy (FU) on early postoperative renal function.@*METHODS@#A total of 46 patients with renal calculi were selected, and their blood or urine specimens were collected respectively at preoperative and postoperative 2, 12, 24, 48, and 72 h. The concentrations of NGAL, Cys-C, KIM-1 were detected.@*RESULTS@#The levels of NGAL and Cys-C began to increase respectively at postoperative 2 and 12 h, and reached peak at postoperative 12 to 24 h. There was significant difference in the levels of NGAL and Cys-C between the postoperative 12 and 2 h or between postoperative 48 and 24 h (all P<0.05). The levels of NGAL and Cys-C began to decline and eventually returned to preoperative levels respectively at postoperative 48 and postoperative 72 h. The KIM-1 began to increase at postoperative 2 h and peaked at postoperative 24 h, which was significant difference between the postoperative 24 and 12 h or postoperative 48 and 24 h (both P<0.05). The level of KIM-1 began to decline and eventually returned to preoperative levels at postoperative 48 h.@*CONCLUSION@#After the combined treatment of percutaneous nephrostolithotomy with flexible ureteroscopy, the concentrations of NGAL, Cys-C and KIM-1 are significantly increased, suggesting injuries on renal function. The time of renal tubular injury and recovery is earlier than that of renal glomerulus.


Assuntos
Idoso , Humanos , Proteínas de Fase Aguda , Urina , Cistatina C , Sangue , Urina , Receptor Celular 1 do Vírus da Hepatite A , Rim , Cálculos Renais , Cirurgia Geral , Lipocalina-2 , Lipocalinas , Sangue , Urina , Glicoproteínas de Membrana , Sangue , Urina , Nefrostomia Percutânea , Período Pós-Operatório , Proteínas Proto-Oncogênicas , Sangue , Urina , Receptores Virais , Sangue , Ureteroscopia
20.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 771-775, 2014.
Artigo em Chinês | WPRIM | ID: wpr-934864

RESUMO

@#Objective To explore the effect of comprehensive intervention on anxiety in patients of acute myocardial infarction (AMI) undergoing intra-aortic balloon pump (IABP). Methods 50 patients with AMI undergoing IABP with the score of Hamilton Anxiety Rating Scale (HAMA) more than 14 points, were divided into conventional intervention group (n=25) and comprehensive intervention group (n=25). The conventional intervention group received all the conventional nursing measures including cognitive behavioral intervention, and the comprehensive intervention group received propofol intravenous pumping in addition with Ramsay sedation at II-III level. The vital signs, HAMA scores, major cardiovascular events, and vascular complications were recorded before and the 1st-5th days after intervention. Results The HAMA scores, systolic blood pressure, diastolic blood pressure and mean pressure decreased in most of the time points after intervention in the comprehensive intervention group (P<0.05). And there was no complication such as low blood pressure, respiratory depression. The incidence rates of cardiac arrhythmias, puncture hematoma/bleeding and catheter displacement were lower in the comprehensive intervention group than in the conventional intervention group (P<0.05). Conclusion Comprehensive intervention can improve the symptoms of anxiety in the patients with AMI undergoing IABP, and reduce the incidence of arrhythmia, vascular complications and catheter displacement.

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