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1.
Article in English | WPRIM | ID: wpr-1041964

ABSTRACT

Sarcopenia, which is characterized by progressive and generalized loss of skeletal muscle mass and strength, has been well described to be associated with numerous poor postoperative outcomes, such as increased perioperative mortality, postoperative sepsis, prolonged length of stay, increased cost of care, decreased functional outcome, and poorer oncological outcomes in cancer surgery. Multimodal prehabilitation, as a concept that involves boosting and optimizing the preoperative condition of a patient prior to the upcoming stressors of a surgical procedure, has the purported benefits of reversing the effects of sarcopenia, shortening hospitalization, improving the rate of return to bowel activity, reducing the costs of hospitalization, and improving quality of life. This review aims to present the current literature surrounding the concept of sarcopenia, its implications pertaining to colorectal cancer and surgery, a summary of studied multimodal prehabilitation interventions, and potential future advances in the management of sarcopenia.

2.
Article in Chinese | WPRIM | ID: wpr-986227

ABSTRACT

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.

3.
Article in Chinese | WPRIM | ID: wpr-1010134

ABSTRACT

OBJECTIVE@#To investigate the diagnostic efficacy of targeted biopsy (TBx), systematic biopsy (SBx), TBx+6-core SBx in prostate cancer (PCa) / clinically significant prostate cancer (cs-PCa) for patients with prostate imaging reporting and data system (PI-RADS) score of 5, and thereby to explore an optimal sampling scheme.@*METHODS@#The data of 585 patients who underwent multiparametric magnetic resonance imaging (mpMRI) with at least one lesion of PI-RADS score 5 at Peking University First Hospital from January 2019 to June 2022 were retrospectively analyzed. All patients underwent mpMRI / transrectal ultrasound (TRUS) cognitive guided biopsy (TBx+SBx). With the pathological results of combined biopsy as the gold standard, we compared the diagnostic efficacy of TBx only, SBx only, and TBx+6-core SBx for PCa/csPCa. The patients were grouped according to mpMRI T-stage (cT2, cT3, cT4) and the detection rates of different biopsy schemes for PCa/csPCa were compared using Cochran's Q and McNemar tests.@*RESULTS@#Among 585 patients with a PI-RADS score of 5, 560 (95.7%) were positive and 25(4.3%) were negative via TBx+SBx. After stratified according to mpMRI T-stage, 233 patients (39.8%) were found in cT2 stage, 214 patients (36.6%) in cT3 stage, and 138 patients (23.6%) in cT4 stage. There was no statistically significant difference in the detection rate of PCa/csPCa between TBx+6-core SBx and TBx+SBx (all P>0.999). Also, there was no statistically significant difference in the detection rate of PCa/csPCa between TBx and TBx+SBx in the cT2, cT3, and cT4 subgroups (PCa: P=0.203, P=0.250, P>0.999; csPCa: P=0.700, P=0.250, P>0.999). The missed diagnosis rate of SBx for PCa and csPCa was 2.1% (12/560) and 1.8% (10/549), and that of TBx for PCa and csPCa was 1.8% (10/560) and 1.4% (8/549), respectively. However, the detection rate of TBx+6-core SBx for PCa and csPCa was 100%. Compared with TBx+SBx, TBx and TBx+6-core SBx had a fewer number of cores and a higher detection rate per core (P < 0.001).@*CONCLUSION@#For patients with a PI-RADS score of 5, TBx and TBx+6-core SBx showed the same PCa/csPCa detection rates and a high detection rates per core as that of TBx+SBx, which can be considered as an optimal scheme for prostate biopsy.


Subject(s)
Male , Humans , Prostatic Neoplasms/pathology , Magnetic Resonance Imaging/methods , Retrospective Studies , Prostate/diagnostic imaging , Image-Guided Biopsy/methods
4.
Article in Chinese | WPRIM | ID: wpr-932622

ABSTRACT

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.

5.
Article in Chinese | WPRIM | ID: wpr-955478

ABSTRACT

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.

6.
Article in Chinese | WPRIM | ID: wpr-956893

ABSTRACT

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.

7.
Acta Physiologica Sinica ; (6): 828-834, 2021.
Article in Chinese | WPRIM | ID: wpr-921286

ABSTRACT

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.


Subject(s)
Humans , Cellular Senescence , Depression/genetics , Hippocampus/metabolism , Nucleus Accumbens , Sirtuin 1/metabolism
8.
Chinese Journal of Nephrology ; (12): 703-710, 2020.
Article in Chinese | WPRIM | ID: wpr-871004

ABSTRACT

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.

9.
International Eye Science ; (12): 1257-1259, 2020.
Article in Chinese | WPRIM | ID: wpr-822255

ABSTRACT

@#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.

10.
Chinese Medical Journal ; (24): 1472-1479, 2018.
Article in English | WPRIM | ID: wpr-688095

ABSTRACT

<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>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Young Adult , Magnetic Resonance Imaging , Methods , Muscular Dystrophies , Diagnostic Imaging , Muscular Dystrophies, Limb-Girdle , Diagnostic Imaging , Muscular Dystrophy, Emery-Dreifuss , Diagnostic Imaging
11.
Article in Chinese | WPRIM | ID: wpr-712112

ABSTRACT

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.

12.
Article in Chinese | WPRIM | ID: wpr-360153

ABSTRACT

<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>

13.
Article in Chinese | WPRIM | ID: wpr-360182

ABSTRACT

<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>

14.
Chinese Health Economics ; (12): 46-50, 2017.
Article in Chinese | WPRIM | ID: wpr-658800

ABSTRACT

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..

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

ABSTRACT

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 Pharmacological Bulletin ; (12): 1645-1650, 2017.
Article in Chinese | WPRIM | ID: wpr-667984

ABSTRACT

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.

17.
Chinese Mental Health Journal ; (12): 768-774, 2017.
Article in Chinese | WPRIM | ID: wpr-668290

ABSTRACT

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.

18.
Article in Chinese | WPRIM | ID: wpr-492346

ABSTRACT

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.
Chinese Medical Journal ; (24): 1811-1816, 2016.
Article in English | WPRIM | ID: wpr-251298

ABSTRACT

<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>


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Young Adult , Collagen Type VI , Genetics , Metabolism , Magnetic Resonance Imaging , Muscle, Skeletal , Pathology , Muscular Diseases , Genetics , Metabolism , Pathology , Mutation , Genetics , Sensitivity and Specificity , Thigh , Pathology
20.
Chinese Medical Journal ; (24): 1419-1424, 2016.
Article in English | WPRIM | ID: wpr-290059

ABSTRACT

<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>


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Brain , Pathology , Physiology , DNA, Mitochondrial , Genetics , Genotype , Heart Block , Diagnosis , Genetics , Kearns-Sayre Syndrome , Diagnosis , Genetics , Magnetic Resonance Imaging , Methods
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