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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(5): 957-963, 2021 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-34650302

RESUMO

OBJECTIVE: Distal hereditary motor neuropathy (dHMN) comprises a heterogeneous group of inherited disorders associated with neurodegeneration of motor nerves and neurons, mainly charac-terized by progressive atrophy and weakness of distal muscle without clinical or electrophysiological sensory abnormalities. To improve the recognition and diagnosis of the disease, we summarized the clinical manifestations, electrophysiological, pathological, and genetic characteristics in eight patients with dHMN. METHODS: Eight probands from different families diagnosed with dHMN were recruited in this study between June 2018 and April 2019 at Peking University People's Hospital. Eight patients underwent complete neurological examination and standard electrophysiological examinations. The clinical criteria were consistent with the patients presenting with a pure motor neuropathy with no sensory changes on electrophysiology. The detailed clinical symptoms, neurophysiological examinations, pathological features and gene mutations were analyzed retrospectively. Genetic testing was performed on the eight patients using targeted next-generation sequencing panel for inherited neuromuscular disorder and was combined with segregation analysis. RESULTS: The age of onset ranged between 11 and 64 years (median 39.5 years) in our dHMN patients. All the cases showed a slowly progressive disease course, mainly characterized by distal limb muscle weakness and atrophy. The motor nerve conduction revealed decreased compound muscle action potential amplitude and velocity, while the sensory nerve conduction velocities and action potentials were not affected. Needle electromyography indicated neurogenic chronic denervation in all patients. Muscle biopsy performed in two patients demonstrated neurogenic skeletal muscle damage. Sural nerve biopsy was performed in one patient, Semithin sections shows relatively normal density and structure of large myelinated fibers, except very few fibers with thin myelin sheaths, which suggested very mild sensory nerve involvement. Eight different genes known to be associated with dHMN were identified in the patients by next-generation sequencing, pathogenic dHMN mutations were identified in three genes, and the detection rate of confirmed genetic diagnosis of dHMN was 37.5% (3/8). Whereas five variants of uncertain significance (VUS) were identified, among which two novel variants co-segregated the phenotype. CONCLUSION: dHMN is a group of inherited peripheral neuropathies with great clinical and genetic heterogeneity. Next-generation sequencing is widely used to discover pathogenic genes in patients with dHMN, but more than half of the patients still remain genetically unknown.

2.
Nan Fang Yi Ke Da Xue Xue Bao ; 41(9): 1350-1357, 2021 Aug 31.
Artigo em Chinês | MEDLINE | ID: mdl-34658349

RESUMO

OBJECTIVE: To determine the risk factors of occurrence and treatment failure of peritoneal dialysis associatedperitonitis (PDAP) due to polymicrobial infections. METHODS: We retrospectively collected the clinical data of patients with PDAP from the peritoneal dialysis (PD) centers in 4 general hospitals in Jilin Province from 2013 to 2019. The patients were divided, according to the results of peritoneal dialysate culture, into polymicrobial PDAP group and control group for comparison of the clinical data, treatment outcomes, and long-term prognosis. The independent risk factors of the occurrence and treatment failure of polymicrobial PDAP were explored using multivariate regression analysis. RESULTS: We recruited a total of 625 patients from the 4 PD centers, among whom 1085 episodes of PDAP were recorded. Polymicrobial PDAP accounted for 7.6% of the total PDAP episodes, and this proportion increased from 5.3% in 2013-2016 to 9.4% in 2017-2019 (P= 0.012). Compared with the control group, polymicrobial PDAP group had higher proportions of elderly patients and patients with refractory PDAP, with greater white blood cell counts in the first-day dialysate and longer course of antibiotic treatment (P < 0.05). The risk of catheter removal and treatment failure (catheter removal or PDAP-related death) in polymicrobial PDAP group was 2.972 times (OR=2.972, 95% CI: 1.634-5.407, P < 0.001) and 2.692 times (OR=2.692, 95% CI: 1.578-4.591, P < 0.001) that in the control group, respectively. The risk of withdrawal from PD (technical failure + all-cause death) was 1.5- fold higher in polymicrobial PDAP group than that in the control group (OR=1.500, 95% CI: 1.085-2.074, P=0.014). Elderly patients (>65 years) had a 1.937-fold higher risk of experiencing polymicrobial PDAP than younger patients (OR=1.937, 95% CI: 1.207-3.109, P= 0.006). Diabetes mellitus (OR=5.554, 95% CI: 1.021-30.201, P=0.047), mixed fungal infeciton (OR=343.687, 95% CI: 21.554- 5480.144, P < 0.001), and Pseudomonas aeruginosa infection (OR=11.518, 95% CI: 1.632 to 81.310, P=0.014) were associated with increased risks of treatment failure by 4.554, 342.687 and 10.518 times, respectively. CONCLUSION: The proportion of polymicrobial PDAP in the total PDAP cases tends to increase in recent years. Polymicrobial infection is an independent risk factor of both treatment failure and poor prognosis in patients with PDAP. An old age is an independent risk factor for polymicrobial PDAP, while diabetes mellitus and infections with mixed fungi or Pseudomonas aeruginosa are independent risk factors for treatment failure.

3.
J Endocrinol Invest ; 2021 Sep 17.
Artigo em Inglês | MEDLINE | ID: mdl-34535888

RESUMO

BACKGROUND: Controversy remains regarding whether closed-loop (CL) insulin delivery or insulin sensor-augmented pump (SAP) delivery is more efficient for clinical treatment. Therefore, we aimed to compare the efficacy and safety of CL insulin delivery systems versus insulin SAP delivery for adults with type 1 diabetes (T1D). METHODS: Embase, Ovid MEDLINE, PubMed, ScienceDirect, Scopus, the Cochrane Library, and other databases were searched for related articles, and we analyzed the average blood glucose (BG), time in range (TIR), and adverse effects (AEs) as primary endpoints to evaluate efficacy and safety. RESULTS: Of 1616 articles, 12 randomized-controlled trials (RCTs) were included in the final analysis. Regarding BG control efficacy, CL insulin delivery resulted better outcomes than SAP therapy with regard to the average BG value, which was detected and recorded by continuous glucose monitoring (mean difference [MD][mmol/L]:  - 0.25 95% confidence interval [CI]  - 0.42 to - 0.08, p = 0.003); TIR 3.9-10 mmol/L (MD [%]: 7.91 95% CI 4.45-11.37, p < 0.00001). Similar results were observed for the secondary outcomes including low blood glucose index (LBGI) (MD:  - 0.41 95% CI - 0.55 to - 0.26, p < 0.00001), high blood glucose index (HBGI) (MD:  - 2.56 95% CI - 3.38 to - 1.74, p < 0.00001), and standard deviation (SD) of glucose variability (MD [mmol/L]: -0.25 95% CI - 0.44 to - 0.06, p = 0.01). Furthermore, SAP therapy was associated with more adverse effects (risk ratio: 0.20 95% CI 0.07-0.52, p = 0.001) than CL insulin delivery, and one of the most common adverse effects was hypoglycemia. CONCLUSIONS: CL insulin delivery appears to be a better treatment method than SAP therapy for adults with T1D because of its increased BG control efficacy and decreased number of hypoglycemic events.

4.
Clin Radiol ; 2021 Sep 24.
Artigo em Inglês | MEDLINE | ID: mdl-34579866

RESUMO

AIM: To determine whether quantitative parameters derived from conventional diffusion-weighted imaging (DWI), intravoxel incoherent motion (IVIM), and dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) correlate with the Ki67 proliferation status in musculoskeletal tumours. MATERIALS AND METHODS: Twenty-eight patients with musculoskeletal tumours diagnosed via surgical specimen histological analysis who underwent standard DWI, IVIM, and DCE were reviewed retrospectively. The mean standard DWI (apparent diffusion coefficient [ADC]), IVIM (pure diffusion coefficient [D], pseudo-diffusion coefficient [D∗] and perfusion fraction [ƒ]), and DCE (volume transfer constant [Ktrans], rate constant [Kep], and extravascular extracellular volume fraction [Ve]) parameters were measured and correlated with the Ki67 index. The Ki67 value was categorised as high (>20%) or low (≤20%). RESULTS: The ADC and D values correlated negatively with the Ki67 index (r=-0.711∼-0.699, p<0.001), whereas the Ktrans and Kep values correlated positively with the Ki67 index (r=0.389-0.434, p=0.021, 0.041). The ADC and D values were lower (p<0.001), whereas the Ktrans and Kep values were higher (p=0.011, 0.005) in musculoskeletal tumours with a high Ki67 status than in those in a low status. The ADC and D demonstrated the largest area under the receiver-operating characteristic curve (AUC = 0.953), which is statistically bigger than the AUC of Ktrans and Kep (0.784 and 0.802, respectively). CONCLUSION: ADC, D, Ktrans, and Kep correlate with the Ki67 index. ADC and D are the strongest quantitative parameters for predicting Ki67 status.

6.
Zhonghua Er Ke Za Zhi ; 59(8): 678-683, 2021 Aug 02.
Artigo em Chinês | MEDLINE | ID: mdl-34333921

RESUMO

Objective: To investigate the clinical and genetic features, and treatment of X-linked hypophosphatemic rickets (XLH). Methods: In this retrospective study, we reviewed the medical records of 25 pediatric patients with XLH who were admitted to Department of Endocrinology Genetics and Metabolism,Beijing Children's Hospital from January 2010 to January 2020. The clinical characteristics, PHEX gene variants, as well as clinical outcome of the patients were summarized. To analyze the correlation between genotype and phenotype, the patients were divided into different subgroups according to the location of the variants, including N-terminal-located vs. C-terminal-located variant, and Zn-binding domain exon 17 or 19 variant vs. non-exon 17 or 19 variant. The age at onset, height standard deviation score (HtSDS), intercondylar or intermalleolar distance, fasting serum phosphorus, and HtSDS and intercondylar or intermalleolar distance at the final follow-up were compared by rank sum test or t text. Results: Among the 25 children with XLH, 8 were boys and 17 were girls. The median age of onset was 1.2 (1.0, 1.8) years, and the median age of diagnosis was 2.5 (1.5, 4.3) years. The main clinical manifestations were abnormal gait and lower limb deformity. The HtSDS was -2.0(-3.2, -0.8), and the intercondylar or intermalleolar distance was 4.5 (3.0, 6.0) cm. The fasting serum phosphorus level was 0.8 (0.7, 0.9) mmol/L, while the serum alkaline phosphatase level was (721±41) U/L and the serum calcium level was (2.5±0.1) mmol/L. Three patients (12%) had parathyroid hormone levels above the upper limit of the normal range. Twenty-five patients (100%) showed radiographic changes of active rickets. Nephrocalcinosis was found in 2 cases (9%). Twenty-four different PHEX variations were detected in 25 patients, among whom 11 (44%) had not been reported previously. No hot spot variation was found. No statistical differences (all P>0.05) were identified in clinical features and outcomes either in comparing patients with N-terminal (21 cases) and C-terminal (4 cases) variants, or in comparing patients with variant located in exon 17 or 19 (4 cases) or not (21 cases). Twenty-four cases (96%) were treated regularly with phosphate supplements and active vitamin D. After 2.7 (1.6, 5.0) years of follow-up, clinical symptoms were relieved in 96% (24/25) of the patients. The HtSDS after treatment had no significant difference compared to that before treatment (-2.0(-3.2, -0.8) vs.-2.0(-2.8, -1.1),Z =-0.156, P>0.05), while the intercondylar or intermalleolar distance after treatment was significantly reduced compared to that before treatment (4.5(3.0, 6.0) vs. 1.5(0, 3.3) cm, Z =-3.043, P<0.05). Bone X-rays were reexamined in 17 cases after treatment, and radiographic signs of rickets were improved. Eighteen cases had secondary hyperparathyroidism and 7 cases had nephrocalcinosis. Conclusions: The main clinical manifestations of XLH are abnormal gait, lower limb deformity and short stature. A high proportion of novel variations of PHEX gene but no hot spot variation neither genotype-phenotype correlation are found. Regular treatment with phosphate supplements and active vitamin D can significantly improve the symptoms except for the height. However, the rate of adverse events including secondary hyperparathyroidism and nephrocalcinosis seems to be high.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Doenças Genéticas Ligadas ao Cromossomo X , Criança , Pré-Escolar , Éxons , Raquitismo Hipofosfatêmico Familiar/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/genética , Humanos , Lactente , Masculino , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Fenótipo , Estudos Retrospectivos
7.
Zhonghua Yi Xue Za Zhi ; 101(29): 2322-2327, 2021 Aug 03.
Artigo em Chinês | MEDLINE | ID: mdl-34333949

RESUMO

Objective: To investigate the efficacy of an etoposide-containing regimen in the treatment of adult-onset Still's disease related hemophagocytic syndrome(AOSD-HLH). Methods: This study adopted the method of retrospective analysis to collect clinical data of 43 AOSD-HLH patients, including the clinical characteristics, laboratory indexes, treatment regimen and prognosis. There were 7 males and 36 females, aged 24-40 years, with a median age of 30. All of them were diagnosed and treated in Beijing Friendship Hospital of Capital Medical University from December 2014 to December 2019. According to whether or not etoposide (VP-16) was included in the initial therapy, patients were divided into group 1 (VP-16 was not administrated in the initial treatment, n=31) and group 2 (the initial treatment included etoposide, n=12). Patients in group 1 who did not respond to the initial treatment were retreated with VP-16-containing regimen, and the effect of initial treatment was compared between the 2 groups. Similarly, according to whether the VP-16-containing regimen was applied or not, patients achieving remission of HLH were divided into group a (not applied, n=6) and group b (applied, n=33), and the laboratory indicators of the two groups were compared. Results: The overall response rate (ORR, 6/31 vs 11/12) and complete response rate (CRR, 1/31 vs 5/12) of patients in group 1 were significantly lower than those in group 2 (both P<0.05). Patients in group 1 who did not respond to the initial treatment were retreated with a VP-16-containing regimen, and we found that the ORR reached 22/24. Among patients in remission, the natural killer cell activity [16.3(14.2, 17.5)% vs 13.1(12.2, 13.8)%] and granulocyte counts [5.6(3.4, 9.3) ×109/L vs 3.9(2.3, 4.7) ×109/L] of patients was significantly higher in group B than that in group A(both P<0.05). There was no statistically significant difference in haemoglobin [103.0 (97.0, 109.5) g/L vs 91.5 (70.0, 118.0) g/L] and platelet counts [(212.2±74.2)×109/L vs (226.0±114.9)×109/L] between the two groups(both P>0.05). Conclusion: The remission status of HLH has an impact on the prognosis of patients. The use of VP-16 in initial treatment can significantly increase the ORR and CRR of AOSD-HLH patients. The application of VP-16 does not cause bone marrow suppression.


Assuntos
Linfo-Histiocitose Hemofagocítica , Doença de Still de Início Tardio , Adulto , Etoposídeo , Feminino , Humanos , Linfo-Histiocitose Hemofagocítica/tratamento farmacológico , Masculino , Indução de Remissão , Estudos Retrospectivos
8.
Zhonghua Gan Zang Bing Za Zhi ; 29(7): 679-684, 2021 Jul 20.
Artigo em Chinês | MEDLINE | ID: mdl-34371539

RESUMO

Objective: To explore the real-world effectiveness and safety of sofosbuvir-based regimen for patients with chronic hepatitis C virus (HCV) genotype 6 infection in Hainan Island. Methods: Fifty-three cases with chronic hepatitis C virus (HCV) genotype 6 infection who were initially treated with a sofosbuvir (SOF)-based regimen [sofosbuvir/velpatasvir (SOF/VEL) for 12 weeks or sofosbuvir combined with ribavirin (SOF+RBV) for 24 weeks], followed by 24 weeks of follow-up after discontinuation of the drug from January 2018 to March 2020 were selected. The primary outcome measures were incidence of sustained virological response at 12 weeks (SVR12) after the drug withdrawal. The secondary outcome measures were adverse drug events with sustained virological response at the end of treatment and 24 weeks after the end of treatment. The occurrence of adverse events was observed during the treatment. An intragroup comparison was performed by t-test. Intention-to-treat and modified intention-to-treat analysis was used for sustained virological respons. Results: The subtype distribution of chronic hepatitis C virus (HCV) genotype 6 in 53 cases of chronic hepatitis C infection were as follows: 22 cases of type 6a, 5 cases of type 6w, 5 cases of type 6xa, 3 cases of type 6v, 2 cases of type 6e, 2 cases of type 6r, 1 case of type 6xh, and 13 cases of special virus strains with undetermined genotype. The overall sustained virological response rate at 12 weeks after the drug withdrawal was 100%. Furthermore, HCV RNA was undetectable during the treatment period (4 weeks), at the end of treatment and after the treatment (24 weeks). There were seven cases of adverse events, mainly including fatigue, anorexia, and mild anemia; however, no serious adverse events were reported. Conclusion: Sofosbuvir-based regimen combined with ribavirin or velpatasvir cannot only achieve high response rate to HCV subtype 6a, but also obtain a good sustained virological response to the rare prevalent sub-genotypes and special virus strains of HCV genotype 6, with mild adverse reactions and acceptable safety profile.


Assuntos
Hepatite C Crônica , Preparações Farmacêuticas , Antivirais/uso terapêutico , Quimioterapia Combinada , Genótipo , Hepacivirus/genética , Hepatite C Crônica/tratamento farmacológico , Humanos , Ribavirina/uso terapêutico , Sofosbuvir/uso terapêutico , Resposta Viral Sustentada , Resultado do Tratamento
10.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(8): 958-964, 2021 Aug 06.
Artigo em Chinês | MEDLINE | ID: mdl-34445833

RESUMO

Objective: To examine the trend of stroke disease burden and its main risk-attributable factors in China and regions with different Socio-Demographic Index (SDI) from 1990 to 2017. Methods: With 2017 Global Burden of Disease (GBD) data, years lived with disability (YLDs), years of life lost (YLLs) and disability-adjusted of life years (DALYs) were applied to describe the disease burden and major risk factors of stroke in China and different SDI regions from 1990 to 2017, and to analyze the changing trend of the disease burden and major risk factors of stroke. Results: From 1990 to 2017, the YLD crude rate, YLL crude rate and DALY crude rate for stroke in China showed an increasing trend and the rate of change was 126.5%, 14.6%, and 24.4%, respectively. In 2017, the YLD crude rate, YLL crude rate and DALY crude rate for stroke in China were 502.6 per 100 000, 2 633.1 per 100 000 and 3 135.7 per 100 000, respectively. Among them, the YLD crude rate, YLL crude rate, and DALY crude rate of stroke were the highest in the ≥70 age group, which were 2 617.2 per 100 000, 16 789.4 per 100 000 and 19 406.6 per 100 000, respectively. The YLD crude rate in male was 475.5 per 100 000, which was slightly lower than that of female (530.9 per 100 000), while the DALY crude rate and YLL crude rate for stroke were 3 657.1 per 100 000 and 3 181.7 per 100 000, respectively, which were significantly higher than that of female (2 591.8 per 100 000 and 2 060.9 per 100 000). Compared with regions with different SDI, the age standardized YLD rate, the age standardized YLL rate, the age standardized DALY rate in China were all at a high level. Among them, the age-standardized YLD rate increased from 286.2 per 100 000 to 374.5 per 100 000, with a rate of change of 30.9%; the age-standardized YLL rate decreased from 3 215.6 per 100 000 to 1 967.8 per 100 000, with a rate of change of -38.8%; the age-standardized DALY rate increased from 3 501.8 per 100 000 to 2 342.3 per 100 000, with a rate of change of -33.1%. The top five risk factors for stroke in China were hypertension, excessive sodium intake, insufficient fruit intake, insufficient cereal intake, and smoking in 1990 and 2017. High Body-Mass Index and Alcohol Use's rankings rose from the 9th and 10th in 1990 to the 6th and 7th in 2017, respectively. Conclusion: The burden of stroke disease in China is at a high level, and hypertension is the primary risk factor.


Assuntos
Pessoas com Deficiência , Acidente Vascular Cerebral , China/epidemiologia , Efeitos Psicossociais da Doença , Feminino , Carga Global da Doença , Humanos , Masculino , Anos de Vida Ajustados por Qualidade de Vida , Acidente Vascular Cerebral/epidemiologia
11.
Zhonghua Xue Ye Xue Za Zhi ; 42(7): 570-576, 2021 Jul 14.
Artigo em Chinês | MEDLINE | ID: mdl-34455744

RESUMO

Objective: To observe the local reactions and efficacy of CD19 CAR-T therapy in recurrence/refractory B-cell non-Hodgkin's lymphoma (R/R NHL) patients with >7.5 cm lesions. Methods: 32 R/R NHL patients with >7.5 cm lesions were enrolled and injected with CD19 CAR-T cells. Flow cytometry was used to detect and observe the amplification of CD19 CAR-T cells in vivo. Enzyme-linked immunosorbent assay (ELISA) was used to detect cytokines in peripheral blood of patients. The side effects of CD19 CAR-T cell therapy included systemic side effects and local reactions of tumor. The local side effects were observed by Ultrasound, Computed tomography and Magnetic resonance imaging. Treatment options included glucocorticoid, interleukin-6 antibody and drainage of exudate. Overall response rate (ORR) and overall survival rate (OS) were observed. Results: ①Among the 32 patients, CR (40.63%) , PR (31.25%) and ORR (71.88%) were 13, 10 and 23, respectively. ②In all 23 patients received ORR, 13 patients had grade 1-2 CRS, while 10 patients had grade 3-4 CRS. All the 9 patients in the SD+PD group had grade 1-2 CRS (P=0.030) . ③A total of 15 patients with tumor local reactions, included 9 patients with CR, 5 patients with PR and 1 patient with SD. The local reactions of the tumor included that the diameter of the superficial lesions increased with redness, swelling and heat pain. The deep lesions presented abdominal pain, abdominal distension, suffocation and local pain, and burning of the tumor. The deep lesions were enlarged or accompanied by local edema. The local exudative lesions were found in the abdominal cavity and pleural cavity. ④ Peak proportion of CD19 CAR-T cells in ORR group was higher than that of in SD+PD group[16.8% (5.3%-48.2%) vs 2.9% (1.5%-5.7%) , z=-4.297, P<0.001]. The peak proportion of CD19 CAR-T cells in ORR group with local reactions was higher than that of in patients without local reactions [22.2% (10.5%-48.2%) vs 12.6% (5.3%-21.6%) , z=-3.213, P=0.001]. The peak proportion of CD19 CAR-T cells in multiple lesion group was higher than that of in single lesion group [35.8% (1.5%-48.2%) vs 16.8% (10.5%-18.5%) , z=-2.023, P=0.040]. ⑤Occurrence of local reactions and tumor shrinkage time were both delayed compared with systemic side effects. ⑥In the ORR group, the OS of patients with tumor local reactions was longer than that of patients without tumor local reactions, but there was no difference in the two groups (75% vs 34.6%, P=0.169) . Conclusions: CD19 CAR-T cell therapy in R/R NHL patients with >7.5 cm lesions might cause tumor local reactions later than systemic side effects. Clinicaltrial:: ChiCTR1800018059.


Assuntos
Linfoma de Células B , Receptores de Antígenos Quiméricos , Antígenos CD19 , Humanos , Linfoma de Células B/terapia , Recidiva Local de Neoplasia , Linfócitos T
12.
Zhonghua Zhong Liu Za Zhi ; 43(8): 889-896, 2021 Aug 23.
Artigo em Chinês | MEDLINE | ID: mdl-34407597

RESUMO

Objective: To analyze the survival benefits and treatment related toxic effects of simultaneous integrated boost intensity-modulated radiotherapy (SIB-RT) for non-operative esophageal squamous cell carcinoma patients. Methods: The data of 2 132 ESCC patients who were not suitable for surgery or rejected operation, and underwent radical radiotherapy from 2002 to 2016 in 10 hospitals of Jing-Jin-Ji Esophageal and Esophagogastric Cancer Radiotherapy Oncology Group (3JECROG) were analyzed. Among them, 518 (24.3%) cases underwent SIB (SIB group) and 1 614 (75.7%) cases did not receive SIB (No-SIB group). The two groups were matched with 1∶2 according to propensity score matching (PSM) method (caliper value=0.02). After PSM, 515 patients in SIB group and 977 patients in No-SIB group were enrolled. Prognosis and treatment related adverse effects of these two groups were compared and the independent prognostic factor were analyzed. Results: The median follow-up time was 61.7 months. Prior to PSM, the 1-, 3-, and 5-years overall survival (OS) rates of SIB group were 72.2%, 42.8%, 35.5%, while of No-SIB group were 74.3%, 41.4%, 31.9%, respectively (P=0.549). After PSM, the 1-, 3-, and 5-years OS rates of the two groups were 72.5%, 43.4%, 36.4% and 75.3%, 41.7%, 31.6%, respectively (P=0.690). The univariate survival analysis of samples after PSM showed that the lesion location, length, T stage, N stage, TNM stage, simultaneous chemoradiotherapy, gross tumor volume (GTV) and underwent SIB-RT or not were significantly associated with the prognosis of advanced esophageal carcinoma patients who underwent radical radiotherapy (P<0.05). Cox model multivariate regression analysis showed lesion location, TNM stage, GTV and simultaneous chemoradiotherapy were independent prognostic factors of advanced esophageal carcinoma patients who underwent radical radiotherapy (P<0.05). Stratified analysis showed that, in the patients whose GTV volume≤50 cm(3), the median survival time of SIB and No-SIB group was 34.7 and 30.3 months (P=0.155), respectively. In the patients whose GTV volume>50 cm(3), the median survival time of SIB and No-SIB group was 16.1 and 20.1 months (P=0.218). The incidence of radiation esophagitis and radiation pneumonitis above Grade 3 in SIB group were 4.3% and 2.5%, significantly lower than 13.1% and 11% of No-SIB group (P<0.001). Conclusions: The survival benefit of SIB-RT in patients with locally advanced esophageal carcinoma is not inferior to non-SIB-RT, but without more adverse reactions, and shortens the treatment time. SIB-RT can be used as one option of the radical radiotherapy for locally advanced esophageal cancer.


Assuntos
Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Neoplasias de Cabeça e Pescoço , Radioterapia de Intensidade Modulada , Neoplasias Gástricas , Quimiorradioterapia , Análise de Dados , Neoplasias Esofágicas/tratamento farmacológico , Neoplasias Esofágicas/radioterapia , Carcinoma de Células Escamosas do Esôfago/tratamento farmacológico , Humanos , Estudos Retrospectivos
13.
Zhonghua Bing Li Xue Za Zhi ; 50(7): 745-750, 2021 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-34405608

RESUMO

Objective: To unravel the CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas from EWSR1 rearrangement-negative undifferentiated round cell sarcomas in the bone and soft tissues. Methods: Twenty-eight cases of EWSR1 rearrangement-negative undifferentiated round cell sarcomas of bone and soft tissues, tested for CIC rearrangement and BCOR rearrangement by fluorescence in situ hybridization and related immunostaining were analyzed, and some of the BCOR rearrangement cases were verified by reverse transcription-polymerase chain reaction. Results: Five of 28 (17.9%) tested cases were positive for CIC rearrangement and six (21.4%) for BCOR rearrangement. Histopathologically, CIC rearrangement sarcomas comprised nodular aggregates of round to polygonal cells, containing hyperchromatic nuclei, prominent nucleoli and moderate cytoplasm, with focal variable necrosis and myxoid stroma. BCOR-CCNB3 sarcomas mostly comprised diffusely arranged, round to oval to short spindly cells with angulated nuclei, vesicular chromatin, inconspicuous nucleoli and interspersed vessels. Immunohistochemically, five of six BCOR-CCNB3 sarcomas showed CCNB3 immunostaining, which could be helpful for diagnosis. Two patients with CIC rearrangement sarcoma died of the diseases in seven months and twenty-two months. One patient with BCOR-CCNB3 sarcoma died of the diseases in forty-six months. Conclusions: Overall, 39.3% of the EWSR1 rearrangement-negative undifferentiated round cell sarcomas are CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas. Molecular testing is helpful for diagnosis.


Assuntos
Biomarcadores Tumorais , Sarcoma , Biomarcadores Tumorais/genética , Rearranjo Gênico , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas/genética , Proteína EWS de Ligação a RNA/genética , Proteínas Repressoras/genética , Sarcoma/genética
14.
Zhonghua Er Ke Za Zhi ; 59(7): 588-593, 2021 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-34405642

RESUMO

Objective: To explore the clinical and genetic characteristics of Noonan syndrome in children. Methods: The clinical characteristics,genetic analysis and follow-up data of 20 children diagnosed with Noonan syndrome who were admitted to Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University from March 2016 to December 2020 were retrospectively analyzed. Results: Among 20 children with Noonan syndrome, 13 were males and 7 were females. The age at diagnosis was 5.9 years (1.1 years to 12.2 years). The most common clinical complaints were delayed height growth, followed by hypospadias or cryptorchidism in 2 cases, and special facial appearance in 1 case. Physical examination revealed 12 cases of Noonan syndrome with facial features, 9 cases with cryptorchidism and hypospadias, 10 cases with abnormal cardiac structure, and 10 cases with mental retardation; Twelve patients were detected with PTPN11 variations, 4 patients carried SOS2 variations, 2 cases were confirmed with variations in SHOC2 and SOS1. Six children received recombinant human growth hormone treatment, and their height increased by 4.0 (2.5-6.0) cm to varying degrees at 9 months. No adverse events occurred. Conclusions: Male Noonan syndrome is more frequently found with external genitalia. In addition to the high frequency of PTPN11 variation, the frequency of gene variation in SOS2 gene is higher than previously reported. All of the SOS2 variations are de novo. The syndrome phenotype profiles could vary with the admitted clinical departments. To understand the full picture of the syndrome, it is necessary to collect medical information from different departments.


Assuntos
Síndrome de Noonan , Criança , Facies , Feminino , Testes Genéticos , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Mutação , Síndrome de Noonan/genética , Fenótipo , Estudos Retrospectivos
16.
Phys Rev Lett ; 127(3): 031102, 2021 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-34328784

RESUMO

We report observations of gamma-ray emissions with energies in the 100-TeV energy region from the Cygnus region in our Galaxy. Two sources are significantly detected in the directions of the Cygnus OB1 and OB2 associations. Based on their positional coincidences, we associate one with a pulsar PSR J2032+4127 and the other mainly with a pulsar wind nebula PWN G75.2+0.1, with the pulsar moving away from its original birthplace situated around the centroid of the observed gamma-ray emission. This work would stimulate further studies of particle acceleration mechanisms at these gamma-ray sources.

17.
Poult Sci ; 100(8): 101191, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34242943

RESUMO

Chicken ovaries are known to develop asymmetrically and only the left ovary fully develops. Although both have been greatly investigated, a gap in scientific reports is still felt between 2-mo-old and sexual maturity. In this study, we aimed at investigating the changes in components that occur during growth to analyze the morphohistological correlation between the left ovary and the follicle development at different age stages in Gallus domesticus. The ovaries were harvested from 60 chickens aged 1 and 3-wk-old, 1, 2, 3, and 4-mo-old (n = 10 per age group), then fixed in AAF solution. Hematoxylin-and Eosin protocol was used to stain the tissue for microscopic observations. Results revealed that the left ovary exhibited an ovarian tissue, a site of follicular growth that displayed various shapes from smooth to greatly indented as the follicles differentiated. Atretic follicles at various regression stages were noticed frequently as the chicks grew in age from 3-wk-old onward along with their differentiation. Rete ovarii, remnants from the male homologs were observed throughout the whole study showing epoöphoron, connecting rete, and gland-like structures that tend to diminish with age. The feature of the left ovary is closely related to the follicular developmental stage, and the bigger and differentiated the follicles are, the more indented and irregular its epithelium appears. Atresia is a normal physiological process that we observed throughout the whole study. Also that, rete ovarii do not spontaneously arise in the ovary but it develops and grows in juvenile chicken as well as in adult ones.


Assuntos
Galinhas , Ovário , Animais , Feminino , Fase Folicular , Crescimento e Desenvolvimento , Masculino , Folículo Ovariano
18.
Artigo em Chinês | MEDLINE | ID: mdl-34256488

RESUMO

Objective: To explore the role and mechanism of long non-coding RNA RP11-159K7.2 in the progression of sinonasal squamous cell carcinoma (SNSCC). Methods: Sixty-five cases of SNSCC tissues and adjacent tissues were selected from the Department of Otorhinolaryngology Head and Neck Surgery, the Second Affiliated Hospital of Harbin Medical University from 2009 to 2014. The expression of RP11-159K7.2 in SNSCC and adjacent tissues was detected by RNAscope in situ hybridization to observe its association with prognosis. Clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR associated proteins 9 (CRISPR/Cas9) was used to knockout the expression of RP11-159K7.2 in RPMI-2650 cells (SNSCC cell line). Cell counting kit-8 (CCK-8), wound healing and Transwell were performed to observe the changes of proliferation, migration and invasion of SNSCC cells in vitro after down-regulation of RP11-159K7.2. Moreover, the growth of xenograft in nude mice after down-regulation of RP11-159K7.2 was examined in vivo. Mechanically, the protein chip, Western blot and RNA immunoprecipitation were performed to identify the proteins bound by RP11-159K7.2. SPSS 17.0 was used for statistical analysis. Results: The expression of RP11-159K7.2 in SNSCC tissue was significantly higher than that in adjacent tissues. RP11-159K7.2 expression was closely related with T grade, nodal metastasis and differentiation of SNSCC (χ2 value was 4.697, 4.235 and 10.753, respectively, all P<0.05). The five-year survival rate of RP11-159K7.2 high expression patients was significantly lower than that of RP11-159K7.2 low expression ones (P=0.013 7). After the down-regulation of RP11-159K7.2, the proliferation, migration and invasion ability of SNSCC cells decreased significantly, and the growth of SNSCC xenograft was significantly inhibited. There were 31 candidate proteins that may bind to RP11-159K7.2. RP11-159K7.2 directly bound to nuclear factor-κB (NF-κB) in SNSCC cells, and the regulation of RP11-159K7.2 on the proliferation and invasion of SNSCC cells depended on NF-κB. Conclusion: The increased expression of RP11-159K7.2 in SNSCC may serve as a potential molecular marker for SNSCC prognosis assessment. It is currently considered that the carcinogenic mechanism of RP11-159K7.2 in SNSCC is related to the regulation of NF-κB protein.


Assuntos
Carcinoma de Células Escamosas , RNA Longo não Codificante , Animais , Carcinoma de Células Escamosas/genética , Linhagem Celular Tumoral , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Humanos , Camundongos , Camundongos Nus , Transplante de Neoplasias , Prognóstico , RNA Longo não Codificante/genética
19.
Rev Sci Instrum ; 92(5): 053501, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-34243359

RESUMO

A toroidal soft x-ray array system for spectrum and intensity measurements on the EXL-50 spherical tokamak is described. Silicon drift detectors and digital multichannel analyzers are adopted for all 21 channels of the array, and an average energy resolution of 147 eV at 5.89 keV has been achieved at count rates over 500 kcps. In total, 20 channels of the array are symmetrically observed in both co- and counter-current directions on the EXL-50 mid-plane with a spatial resolution of around 10 cm, and the remaining one serves as a background reference channel. Tungsten emissions from tungsten coating of the limiters on the central post are observed. The influence of hard x rays on measured soft x-ray spectra and system operation is discussed.

20.
Rev Sci Instrum ; 92(4): 043513, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-34243380

RESUMO

A tangential hard x-ray (HXR) diagnostic on the newly constructed ENN XuanLong-50 (EXL-50) spherical tokamak for fast electron emission studies is presented. The HXR detection system consists of a symmetrical CdZnTe semiconductor detector array with a spectral sensitivity range of 20-300 keV. 25 channels have been designed on the 270° horizontal vacuum port with 12 sight lines to observe the forward emission, 12 sight lines to observe the backward emission of fast electrons, and 1 for viewing the central. Currently, ten channels have been in operation in the EXL-50 experiments. The systems are designed to measure the x-ray spectra for the estimation of fast electron temperature and electron velocity distribution in the EXL-50 experiment, which will be useful for understanding the dynamics of fast electrons generated by electron cyclotron resonance heating, for plasma instability and transport studies and for the analysis of plasma heating efficiency.

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