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Objective: To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to improve the diagnosis of this rare disease. Methods: A retrospective case series was conducted to collect the clinical data and results of genetic testing, muscle biopsy, and imaging studies including computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS) of 35 patients with MELAS admitted to the Nanjing Drum Tower Hospital from 2012 to 2021. Descriptive statistical analysis including mean, standard deviation, and frequency percentage were carried out. Results: The average age of onset of the patients was 30.2±2.3 years; the prevalence of family history was 20%. The two main initial symptoms were limb weakness and convulsions. The clinical manifestations of the neuromuscular system were proximal muscle weakness and exercise intolerance. The endocrine system is the most affected outside the neuromuscular system, with diabetes being the most common condition. Among the five patients who underwent brain CT, four showed hypodense lesions and two had calcified lesions. Brain MRI in 26 patients showed that the lesions more often affected the parietal lobe, basal ganglia, temporal lobe, occipital lobe, and frontal lobe than the infratentorial areas. Twelve of these individuals exhibited different levels of brain atrophy. Among the 10 patients who underwent 1H-MRS, nine showed a decrease in N-acetylaspartate (NAA) levels, eight exhibited abnormal lactate elevation (Lac peaks), whereas six had both reduced NAA levels and the presence of Lac peaks. Thirty-one patients underwent genetic testing; among them, 25 were found to have the mt.3243A>G mutation, while the remaining six exhibited rare gene alterations. Muscle biopsies were performed in 21 patients, and 15 showed abnormal mitochondrial proliferation manifested by ragged red fibers and defective oxidative phosphorylation manifested by cytochrome C oxidase (COX) enzyme-deficient muscle fibers. Conclusion: The clinical manifestations of MELAS syndrome are variable and complex, and early atypical symptoms could be missed or misdiagnosed. A detailed clinical history, imaging MRS analysis, muscle biopsy, and genetic testing are necessary to confirm the accurate diagnosis of MELAS.
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Síndrome MELAS , Imagen por Resonancia Magnética , Humanos , Síndrome MELAS/diagnóstico , Estudios Retrospectivos , Adulto , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Masculino , Femenino , Espectroscopía de Resonancia MagnéticaRESUMEN
Objective: To evaluate the efficacy and safety of hepatic arterial infusion chemotherapy (HAIC) combined with lenvatinib and tislelizumab in the treatment of unresectable intrahepatic cholangiocarcinoma (ICC). Methods: The clinical data of 12 patients with unresectable ICC who received HAIC combined with lenvatinib and tislelizumab in the First Affliated Hospital of Soochow University from October 2021 to April 2023 were retrospectively analyzed. HAIC included gemcitabine plus oxaliplatin; this regimen was combined with lenvatinib and tislelizumab within 3-7 days after its initial administration. Relevant laboratory examinations were performed before each cycle of HAIC, and enhanced computed tomography/magnetic resonance imaging examinations were performed every 6-9 weeks. Tumor response to treatment was evaluated using the modified Response Evaluation Criteria in Solid Tumors. The objective response rate, disease control rate, progression-free survival, overall survival, and treatment-related adverse reactions of patients with ICC were statistically analyzed. Results: The objective response rate to HAIC combined with lenvatinib and tislelizumab was 6/12; the disease control rate was 8/12; the median progression-free survival was 11.8 months; and the median overall survival was 14.2 months. Three patients had grade â £ adverse reactions (increased alanine aminotransferase and aspartate aminotransferase thrombocytopenia), while three patients had grade â ¢ adverse reactions (increased total bilirubin, alanine aminotransferase, and aspartate aminotransferase). The remaining patients had grade â -â ¡ adverse reactions. There were no serious complications related to interventional surgery. Conclusions: Use of HAIC (gemcitabine plus oxaliplatin) combined with lenvatinib and tislelizumab in the treatment of unresectable ICC may be safe and feasible. Preliminary clinical studies have shown that this combination can improve the survival and prognosis of patients with ICC.
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Anticuerpos Monoclonales Humanizados , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias de los Conductos Biliares , Colangiocarcinoma , Compuestos de Fenilurea , Quinolinas , Humanos , Colangiocarcinoma/tratamiento farmacológico , Quinolinas/administración & dosificación , Quinolinas/uso terapéutico , Anticuerpos Monoclonales Humanizados/administración & dosificación , Anticuerpos Monoclonales Humanizados/uso terapéutico , Estudios Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Compuestos de Fenilurea/administración & dosificación , Compuestos de Fenilurea/uso terapéutico , Neoplasias de los Conductos Biliares/tratamiento farmacológico , Masculino , Femenino , Infusiones Intraarteriales , Gemcitabina , Desoxicitidina/análogos & derivados , Desoxicitidina/administración & dosificación , Persona de Mediana Edad , Oxaliplatino/administración & dosificación , Oxaliplatino/uso terapéutico , Arteria Hepática , Anciano , Resultado del TratamientoRESUMEN
Adeno-associated virus (AAV) vectors have been widely employed in gene therapy for ocular and systemic diseases. However, clinical trial outcomes have indicated that gene therapy may trigger severe adverse events associated with immune-inflammatory reactions, thereby impacting the safety and efficacy of gene therapy. The immune-inflammatory reaction induced after gene therapy in the eye is referred to as gene therapy-associated uveitis, which has become a major obstacle limiting the long-term and effective use of ocular gene therapy. This review comprehensively explores four aspects: the immune response mechanisms of gene therapy, ocular manifestations of associated uveitis, factors influencing immune inflammation, and preventive and therapeutic strategies. The aim is to provide insights for the development of safer and more effective ocular gene therapy.
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Dependovirus , Uveítis , Humanos , Dependovirus/genética , Vectores Genéticos , Terapia Genética , Uveítis/terapia , InmunidadRESUMEN
Diabetes is one of the most important non-communicable chronic diseases. Although a large amount of clinical evidence on the effectiveness of diabetes prevention and treatment interventions has been established, the current quality of care and results are still insufficient. Implementation Research can bridge the gap between research and practice. Implementation Research on diabetes management can clarify what is effective and what is ineffective in management, and promote the transformation of complex, multi-component interventions into medical practice faster and more effectively. This paper reviews the main research contents and application of implementation research of diabetes management at home and abroad, aiming to provide reference for related research and promote the application of implementation research in diabetes management in China.
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Diabetes Mellitus , Autocuidado , Humanos , Autocuidado/métodos , China , Diabetes Mellitus/prevención & controlRESUMEN
Objective: To analyze the association between sleep duration and cognitive function of the elderly in six provinces of China. Methods: Based on the cross-sectional survey data of the elderly from the Healthy Ageing Assessment Cohort Study in 2019, 4 644 participants' sociodemographic and economic indicators, lifestyle, prevalence of major chronic diseases, and sleep status, including night-time sleep duration, daytime sleep duration and insomnia, were collected by questionnaires. Cognitive function was evaluated by the Mini-Mental State Examination. Multivariate logistic regression was used to analyze the association between night-time sleep duration, daytime sleep duration and cognitive function. Results: The mean age of 4 644 respondents was (72.3±5.7) years, and 2 111 of them were males (45.5%). The mean total daily sleep time of the elderly was (7.9±1.9) hours, and the proportion of those who slept less than 7.0, 7.0-8.9 and≥9.0 hours was 24.1% (1 119), 42.1% (1 954) and 33.8% (1 571), respectively. The mean sleep time at night was (6.9±1.7) hours. About 23.7% (1 102) of the elderly did not sleep during the day, and the mean duration of the elderly who slept during the day was (78±51) minutes. Among the elderly with insomnia, 47.9% were still satisfied with their sleep quality. The mean value of MMSE score of 4 644 respondents was (24.5±5.3), and the cognitive impairment rate was 28.3% (1 316). The results of multivariate logistic regression model analysis showed that the OR (95%CI) value of the risk of cognitive impairment in older people who did not sleep, slept for 31 to 60 minutes and slept more than one hour was 1.473 (1.139 to 1.904), 1.277 (1.001 to 1.629) and 1.496 (1.160 to 1.928), respectively, compared with those who slept for 1 to 30 minutes during the daytime. Compared with those who slept for 7.0â8.9 hours at night, the OR (95%CI) value of the risk of cognitive impairment in older people who slept more than 9.0 hours was 1.239 (1.011 to 1.519). Conclusion: The cognitive function is related to sleep duration in the Chinese elderly.
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Trastornos del Inicio y del Mantenimiento del Sueño , Trastornos del Sueño-Vigilia , Masculino , Humanos , Anciano , Femenino , Trastornos del Inicio y del Mantenimiento del Sueño/epidemiología , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Estudios Transversales , Estudios de Cohortes , Sueño , Cognición , China/epidemiologíaRESUMEN
To explore the effect of Internet+diet self-management intervention technology on the blood pressure control of hypertension high-risk population through the intervention of hypertension high-risk population in Haikou City community, so as to provide scientific evidence for the prevention and treatment of cardiovascular diseases (CVD). The multi-stage cluster sampling method was used, and 295 hypertension high-risk participants were recruited from 15 communities in Haikou City from July to December 2021. The 15 communities were randomly divided into three groups: blank group, traditional group and Internet plus group by random number table method. The blank group referred to the group (99 participants) that did not take special intervention measures but the routine interventions in accordance with the "National Basic Public Health Service Standards (the Third Edition) Health Education Service Standards". On the basis of the blank group, the traditional group (95 participants) was intervened by giving additional traditional methods such as holding lectures and distributing popular science books. The Internet plus group (101 participants) was given additional Internet measures on the basis of the intervention of the traditional group. After 6 months, questionnaires, laboratory biochemical tests, and physical measurements were conducted. SPSS 25.0 software was applied for data analysis. Measurement data that followed normal distribution were statistically described by using mean±standard deviation, analysis of variance was used for inter group comparisons before intervention, analysis of covariance was used for inter group comparisons after intervention, and Bonferroni adjustment was used for pairwise comparisons between groups. Measurement data that did not follow the Normal distribution were represented by M (Q1, Q3). The rank sum test was used for inter group comparison. The k sample Kruskal Wallis single factor ANOVA was used to compare the distribution between different groups. Counting data were described by composition ratio or rate. Under the premise of balanced comparison between groups before intervention, Chi-squared test was used for inter group comparison after intervention, and Bonferroni adjustment method was used for pairwise comparison between groups. The results showed that a total of 295 participants were included, with males accounting for 35.6% (105) and females accounting for 64.4% (190). The age ranged from 55 to 74 years old, with an average age of (64.69±5.73) years. The number of married accounted for 95.6% (282 participants). There were no statistically significant differences in gender, age, family history, education level, occupation, marital status, drinking habits, regular exercise, dietary status, SBP (systolic blood pressure), DBP (diastolic blood pressure), pulse pressure difference, BMI (body mass index), folic acid, and 24-hour urine sodium among the three groups upon enrollment (P values>0.05). After the intervention, the drinking rate was as follows: Internet plus group (29, 28.7%)Asunto(s)
Enfermedades Cardiovasculares
, Hipertensión
, Automanejo
, Masculino
, Femenino
, Humanos
, Persona de Mediana Edad
, Anciano
, Presión Sanguínea
, Hipertensión/epidemiología
, Hipertensión/prevención & control
, Enfermedades Cardiovasculares/prevención & control
, Dieta
, Sodio
, Internet
, Ácido Fólico
RESUMEN
Objective: To identify BRAF V600E mutations in adult Wilms tumor (WT) with overlapping histologic features of metanephric adenoma (MA) and to investigate the clinicopathological features of adult WT. Methods: The clinical features of adult WT diagnosed at the Fudan University Shanghai Cancer Center, Shanghai, China from 2012 to 2021 were reviewed. HE-stained slides of all cases were reviewed by 2 expert pathologists. Representative tissues were selected for BRAF V600E immunohistochemical (IHC) staining and gene sequencing. Results: In adult WT with MA-like areas (cohort â , n=6), 5 of the 6 cases were composed of epithelial-predominant and were positive for WT-1 and CD56, respectively, and all were positive for CD57. All 6 cases revealed highly variable Ki-67 indices, ranging from 1% in some areas to 60% in others. 5 of the 6 cases harbored a BRAF V600E mutation. All cases in cohort I were followed up for 23 to 71 months, and all survived. In classical adult WT without MA-like areas cohort (cohort â ¡, n=13), all 7 cases with available material were negative for BRAF by IHC and none of them had any BRAF mutation. Conclusions: BRAF V600E mutations are frequently present in adult WT with overlapping morphologically features of MA, but not in those without. More importantly, adult WTs with overlapping histologic features of MA may be an intermediate entity between typical MA and WT that may have a favorable prognosis and possible therapeutic targets.
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Adenoma , Neoplasias Renales , Tumor de Wilms , Adulto , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , China , Tumor de Wilms/genética , Neoplasias Renales/genética , Neoplasias Renales/patología , Mutación , Adenoma/genética , Biomarcadores de Tumor/genéticaRESUMEN
Objective: To compare the safety and clinical efficacy of endoscopic and surgical treatment of patients with delayed iatrogenic bile duct injury (DBDI) with severity (SG) grade 1 to 2. Methods: The clinical data of 129 patients with SG grade 1 to 2 DBDI who received endoscopic or surgical treatment in the First Hospital of Lanzhou University from November 2007 to November 2021 were retrospectively collected. There were 46 males and 83 females,aged (M(IQR)) 54(22)years(range: 21 to 82 years). The baseline data of the two groups were matched 1â¶1 by propensity score matching(caliper value was 0.2). Independent sample t test,rank sum test,χ2 test or Fisher exact probability test were used to analyze the data of the two matched groups. Results: There were 48 patients in each of the endoscopic treatment and surgical groups after matching,and there was no difference in general information between the two groups(both P>0.05). The bile duct injury-repair interval and intraoperative anesthesia complications were not statistically significant between the two groups after matching(all P>0.05). Compared with the surgical group, patients in the endoscopic treatment group had significantly shorter operative time(50 (30) minutes vs. 185 (100) minutes, Z=7.675,P<0.01) and postoperative hospital stay(5 (5) days vs. 12 (7) days, Z=5.848, P<0.01).For safety,there was no statistical difference in the incidence of immediate postoperative complications between the two groups with Clavien-Dindo classification of surgical complications<â ¢;the incidence of serious postoperative complications (Clavien-Dindo classification of surgical complications≥â ¢) was significantly higher in the surgical group than in the endoscopic treatment group(P=0.012). The incidence of long-term postoperative complications was not statistically different between the two groups(28.1% vs. 20.7%,P=0.562). In terms of efficacy,the postoperative liver function indexes of patients in both groups improved significantly compared with the preoperative period and returned to normal or near normal levels; the postoperative infection indexes of both groups showed an increasing trend,but were within the normal range. Of the 96 patients in both groups,61 obtained follow-up,and the follow-up time was (89.4±48.0)months(range: 3 to 165 months),and there was no statistical difference between the two groups(P=0.079). The probability of excellent long-term follow-up (78.1% vs. 86.2%) was not statistically different between the two groups(P=0.412).In patients with Strasberg-Bismuth type E1,the probability of excellent long-term follow-up was higher in the endoscopic treatment group compared with the surgical group(13/14 vs. 2/5,P=0.037). Conclusions: For DBDI patients with SG grade 1 to 2 and bile duct continuity,endoscopy can be used as the first deterministic treatment. The advantages of endoscopic therapy compared to surgery are the lower incidence of postoperative serious complications,and the shorter duration of surgery and postoperative hospital stay.
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The fragmentation dynamics of two isomers of C3H6, cyclopropane and propene, induced by 4 keV/u Ar8+ are investigated employing a reaction microscope. Four two-body and two three-body dissociation channels of C3H6 2+ dications are identified for each isomer, among which the channels involving CC bond breaking are found to be much more favored than H3 + and H2 + formation channels. The observation of the CH3 + or H3 + formation channels from cyclopropane are direct evidence of the proton migration within the carbon skeleton before dissociation. Obvious isomer effects are revealed by comparing the relative branching ratios of different channels of the two isomers. Moreover, it was shown that a sequential dissociation mechanism with H elimination prior to CC bond cleavage may be dominant for the two three-body dissociation channels for both isomers.
RESUMEN
OBJECTIVE: To explore the correlation of cytochrome B-245 alpha chain (CYBA) rs4673 and cholesteryl ester transfer protein (CETP) rs12720922 polymorphisms with the susceptibility of gene-ralized aggressive periodontitis (GAgP). METHODS: The study was a case-control trial. A total of 372 GAgP patients and 133 periodontally healthy controls were recruited. The CYBA rs4673 and CETP rs12720922 polymorphisms were detected by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS). Logistic regression models were used to analyze the correlation of CYBA rs4673 and CETP rs12720922 variants with the susceptibility of GAgP. The interaction between the two gene polymorphisms to the susceptibility of GAgP was analyzed by the likelihood ratio test. The interaction model adopted was the multiplication model. RESULTS: The mean age of GAgP group and control group was (27.5±5.2) years and (28.8±7.1) years respectively. There was significant difference in age between the two groups (P < 0.05). The gender distribution (male/female) was 152/220 and 53/80 respectively, and there was no significant difference between GAgP group and controls (P>0.05). For CYBA rs4673, the frequency of CT/TT genotype in the GAgP group was significantly higher than that in the controls [18.0% (66/366) vs. 10.6% (14/132), P < 0.05]. After adjusting age and gender, the individuals with CT/TT genotype had a higher risk of GAgP (OR=1.86, 95%CI: 1.01-3.45, P < 0.05), compared with CC genotype. There was no statistically significant difference in distributions of the CETP rs12720922 genotypes (GG, AA/AG) between GAgP patients and healthy controls (P>0.05). A significant interaction between CYBA rs4673 and CETP rs12720922 in the susceptibility to GAgP was observed. The GAgP risk of the individuals with CYBA rs4673 CT/TT and CETP rs12720922 GG genotypes was significantly increased (OR=3.25, 95%CI: 1.36-7.75, P < 0.01), compared with those carrying CC and AA/AG genotypes. CONCLUSION: CYBA rs4673 CT/TT genotype is associated with GAgP susceptibility. There is a significant interaction between CYBA rs4673 CT/TT genotype and CETP rs12720922 GG genotype in the susceptibility of GAgP.
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Periodontitis Agresiva , Adulto , Periodontitis Agresiva/genética , Estudios de Casos y Controles , Proteínas de Transferencia de Ésteres de Colesterol/genética , Grupo Citocromo b , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , NADPH Oxidasas/genética , Polimorfismo de Nucleótido Simple , Adulto JovenRESUMEN
Objective: To study the clinical significance of autoantibodies against different ubiquitin carboxyl hydrolase L1 (UCH-L1) epitopes in Sjogren syndrome (SS). Methods: The serum levels of different UCH-L1 epitope autoantibodies in 98 SS patients [SS group, 17 males and 81 females, aged (49.1±12.3) years] in the Fifth Affiliated Hospital of Zhengzhou University and Peking University People's Hospital from January 2017 to January 2020 and 37 healthy controls [control group, 6 males and 31 females, aged (46.3±5.8) years] were determined by enzyme-linked immunosorbent assay (ELISA). Three potential epitopes of UCH-L1 protein were analyzed and synthesized and anti-UCH-L1203-214 and anti-UCH-L158-69 antibodies were studied between the two groups. The levels of the two anti-UCH-L1 antibodies in the two groups were compared. The correlation between the levels of UCH-L1 antibodies and clinical data of SS patients were analyzed by Pearson correlation analysis. Results: The serum levels of anti-UCH-L1203-214 and anti-UCH-L158-69 antibody in SS patients were significantly higher than those in healthy controls (HCs) (anti-UCH-L1203-214: 108.2±54.3 vs 78.9±25.8, P<0.001, anti-UCH-L158-69: 86.8±33.3 vs 60.4±21.5, P<0.001). The positive rates of anti-UCH-L1203-214 and anti-UCH-L158-69 antibodies in serums of SS patients were 27.6 % (27/98) and 25.5% (25/98), and those in HCs were 2.7%(1/37) and 5.4 %(2/37), respectively. In SS patients with positive serum anti-UCH-L158-69 antibody, the levels of IgG, γ globulin and rheumatoid factor (RF) and anti-SS-related antigen B (anti-SSB) antibody positive rate were all significantly higher than those in patients with negative antibody (all P<0.05). In SS patients with negative antinuclear antibody (ANA), anti-RNA binding protein (anti-RNP) antibody, anti-SS-related antigen A (anti-SSA) antibody and anti-SSB antibody, the positive rates of anti-UCH-L1203-214 antibody was 32.1%(9/28), 27.2%(25/92), 36.4%(12/33), 28.6%(18/63), respectively; and the positive rates of anti-UCH-L158-69 antibody was 21.4%(6/28), 30.4%(28/92), 30.3%(10/33), 20.6%(13/63), respectively. The level of serum anti-UCH-L1203-214 antibody in SS patients was positively correlated with the IgA level (r=0.21, P=0.024). The level of anti-UCH-L158-69 antibody in SS patients was positively correlated with the levels of γ-globulin, IgG and RF (r=0.35, 0.33, 0.32, all P<0.01). Conclusion: Autoantibodies against UCH-L1 epitopes are correlated with some clinical parameters of SS patients, which is of promising significance in the screening and diagnosis of SS.
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Autoanticuerpos , Síndrome de Sjögren , Adulto , Anticuerpos Antinucleares , Autoanticuerpos/análisis , Epítopos , Femenino , Humanos , Hidrolasas , Inmunoglobulina G , Masculino , Persona de Mediana Edad , Factor Reumatoide , Síndrome de Sjögren/diagnóstico , Ubiquitina , Ubiquitina TiolesterasaRESUMEN
Objective: The investigation and research on the application status of Hepatic Venous Pressure Gradient (HVPG) is very important to understand the real situation and future development of this technology in China. Methods: This study comprehensively investigated the basic situation of HVPG technology in China, including hospital distribution, hospital level, annual number of cases, catheters used, average cost, indications and existing problems. Results: According to the survey, there were 70 hospitals in China carrying out HVPG technology in 2021, distributed in 28 provinces (autonomous regions and municipalities directly under the central Government). A total of 4 398 cases of HVPG were performed in all the surveyed hospitals in 2021, of which 2 291 cases (52.1%) were tested by HVPG alone. The average cost of HVPG detection was (5 617.2±2 079.4) yuan. 96.3% of the teams completed HVPG detection with balloon method, and most of the teams used thrombectomy balloon catheter (80.3%). Conclusion: Through this investigation, the status of domestic clinical application of HVPG has been clarified, and it has been confirmed that many domestic medical institutions have mastered this technology, but it still needs to continue to promote and popularize HVPG technology in the future.
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Hipertensión Portal , China/epidemiología , Venas Hepáticas , Humanos , Hipertensión Portal/diagnóstico , Cirrosis Hepática , Presión PortalRESUMEN
The case of oral hydrochloric acid poisoning is rare in clinic, and it is easy to be misdiagnosed when the poison is not clear. The clinical data of 1 case of oral hydrochloric acid poisoning successfully treated was retrospectively analyzed to provide reference for diagnosis and treatment of similar clinical cases.
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Intoxicación , Venenos , Administración Oral , Humanos , Ácido Clorhídrico , Estudios RetrospectivosRESUMEN
Objective: To investigate DICER1 hotspot mutations in ovarian Sertoli-Leydig cell tumor (SLCT) and its associated clinicopathological features. Methods: Forty-three SLCTs and 40 other sex cord-stromal tumors (SCSTs) diagnosed between 2010 and 2017 at Fudan University Shanghai Cancer Center were examined for somatic DICER1 hotspot mutations by Sanger sequencing. The associations between mutation status and clinicopathological features, including patient age, tumor differentiation and recurrence, were analyzed. Results: Somatic DICER1 mutations were found in 51% (22/43) of SLCTs, while none in the other 40 SCSTs. The most common mutation of DICER1 was p.D1709N in exon 24 (41%, 9/22) and the second most common mutation of DICER1 was p.E1813K in exon 25 (14%, 3/22). A novel frameshift mutation (c.5464delG, p.M1837fs*16) was identified in one SLCT with microcystic pattern. Mutations were more likely to occur in patients under forty years of age (P=0.046), whereas no significant associations were found between DICER1 mutations and clinical symptoms, morphology or tumor recurrence. Conclusions: Somatic DCIER1 hotspot mutations are specifically found in SLCT and may serve as an ancillary marker in differential diagnosis of SLCT from other SCST. The mutations occur more often in young patients (<40 years old). Additional studies are warranted to examine the associations between DICER1 mutations and clinicopathological features and prognosis of SLCT.
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ARN Helicasas DEAD-box/genética , Neoplasias Ováricas , Ribonucleasa III/genética , Tumor de Células de Sertoli-Leydig , Adulto , China , Femenino , Humanos , Mutación , Neoplasias Ováricas/genética , Tumor de Células de Sertoli-Leydig/genética , Tumores de los Cordones Sexuales y Estroma de las GónadasRESUMEN
The Third UN High-level Meeting on Non-Communicable Diseases was held on September 2018. The conference carried out a series of activities on the theme of "Time To Deliver", and adopted the 2018 Political Declaration on Non-Communicable Diseases. The new "5×5" strategy for non-communicable diseases prevention and control was clearly put forward, slow progress of non-communicable diseases prevention and control was criticized and the seven major challenges hindering the progress of non-communicable diseases prevention and control was analyzed, the main role and responsibility of governments at all levels in coping with the challenges of non-communicable diseases was reiterated, and put forward clear requirements. The declaration also reiterates the importance of strengthening public health measures. The meeting and declaration aroused strong repercussions and were regarded as a milestone to promote the global prevention and control of non-communicable diseases, and also brought a series of important inspirations for the development of public health in China in the new era. In order to cope with the heavy burden of non-communicable diseases in China, we must give full play to our institutional advantages, mobilization advantages and organizational advantages, adhere to prevention-oriented, emphasize the role of professional public health institutions, and consolidate and strengthen the disease control system and capacity building.
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Enfermedades no Transmisibles , Salud Pública , Naciones Unidas , China , Atención a la Salud , HumanosRESUMEN
Objective: To study the clinicopathological characteristics of cardiac neoplasms. Methods: A total of 689 cases of cardiac neoplasms from January 1st 1992 to December 31th 2017 at Guangdong Provincial People's Hospital were collected. The clinical data and histologic features were analyzed along with a review of literature. The pathological diagnosis and classification were based on the criteria of WHO 4th edition(2015). Results: Among 689 cases of cardiac neoplasms, 259 were male and 430 were female patients, with age from 0 to 84 years (mean of 48 years). The peak incidence was between the fourth and sixth decade. Among patients younger than 20 years, there were 24 males and 12 females. 674 cases(674/689,97.8%)were primary cardiac tumors and 15 cases were secondary tumors (15/689,2.2%). Amongst the primary cardiac neoplasms, 625 cases were benign(625/674,92.7%), 7 cases were borderline (7/674, 1.0%), and 42 cases were malignant (42/674, 6.2%). The incidences of benign, borderline and malignancy heart tumors among patients below 20 years old were lower than those of patients over 20 years of age (4.8% vs. 95.2%; 3/9 vs. 6/9; 5.5% vs. 94.5%, respectively). Of the benign tumors, 406 cases were female and 219 cases were male. More male than female patients were seen in borderline and malignancy cardiac tumor categories (6â¶3; 34â¶21). Of 625 benign tumors, 577 cases were myxoma(85.6%), which mainly occurred in patients over 20 years of age(85.9% vs. 14.1%) with a female predominance. Non-myxomas mainly occurred in children and adolescent patients compared to adult (55.6% vs. 44.4%, P<0.01) with a male predominance. Overall, 524 tumors originated from the left atrium, 84 cases from the right atrium, 26 cases from the pericardium, 23 cases from the right ventricular, and 11 cases from the left ventricle. However, 21 cases were multicentric or involving cardiac valves. Benign tumors mainly involved left heart(76.3%) vs. right heart(81/625, 12.6%). The mostly common location of borderline tumors was right heart(5/9). Malignant tumors tended to involve the right heart(22/55,40.0%) and pericardium(18/55, 32.7%). Conclusions: Although the incidence of cardiac neoplasms is low,various tumor types can occur, most of which are myxoma with a female predominance. Non-myxomas mainly occur in children and adolescents with a male predominance.
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Neoplasias Cardíacas/patología , Mixoma/patología , Adolescente , Adulto , Distribución por Edad , Factores de Edad , Anciano , Anciano de 80 o más Años , Niño , Preescolar , China/epidemiología , Femenino , Atrios Cardíacos/patología , Neoplasias Cardíacas/epidemiología , Ventrículos Cardíacos , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Mixoma/epidemiología , Distribución por Sexo , Adulto JovenRESUMEN
Objective: To investigate the etiology, clinical features, treatment and outcome of nephrotic syndrome associated with chronic mercury poisoning. Methods: From June 2013 to April 2018, Beijing Chaoyang Hospital, Capital Medical University received 33 patients with chronic mercury-neutral nephrotic syndrome. The clinical manifestations, laboratory tests, treatment methods, and outcomes were analyzed. Results: Among the 33 patients, 27 patients had mercury exposure due to daily-life contact and the other 6 patients were caused by iatrogenic mercury. The symptom was characterized by typical nephrotic syndrome such as lower extremity edema and proteinuria at first onset. The treatment was based on mercury-removing treatment, 19 cases were treated with mercury removal alone, 16 cases were completely relieved; 10 cases were treated with mercury removal and glucocorticoids, all of which were completely relieved; 4 cases were treated with mercury removal, glucocorticoids and immunosuppressive agents, all complete remission; clinical complete remission rate is about 90.9% (30 cases in total) . Urinary mercury levels decreased the fastest between the first and second courses of mercury treatment, but the total amount of urine protein increased. As the amount of urinary mercury excreted increased, the total amount of urine protein decreased gradually (Z=2.86, P<0.01) . Conclusion: The clinical features of chronic mercury-induced nephrotic syndrome are non-specific, easy to be misdiagnosed and missed. The treatment is mainly treated with mercury removal treatment. The prognosis is good. In severe cases, glucocorticoid therapy can be supplemented.
Asunto(s)
Intoxicación por Mercurio , Síndrome Nefrótico , Humanos , Intoxicación por Mercurio/complicaciones , Síndrome Nefrótico/inducido químicamente , Síndrome Nefrótico/terapia , Proteinuria , Resultado del TratamientoRESUMEN
As a fast-developing technique for in situ multi-element analysis method, laser induced breakdown spectroscopy - LIBS is, however, developing slowly on liquid analysis due to some technical difficulties. We propose a new method, namely capillary mode, to quantify the concentrations of the elements in solution using LIBS. A Nd:YAG laser with repetition of 10 Hz were used to analyze the solution of Na2CrO4 and no any sample preparation in measurements. The experimental results show that the splashing of liquid induced by laser pulses is decreased significantly and the pollution of mirrors is avoided effectively using liquid capillary mode. The results of quantitative analysis for liquid are also improved than other method. The calibration curves of Cr and Na are well characterized by straight lines and the regression coefficient values of the linear fit are better than 0.998. The limits of detection (LODs) of Cr and Na are determined to be 28.9 mg/L and 1.0 mg/L in this work, respectively. The experimental results show that the liquid capillary mode provides a more practical and very simple approach to improve accuracy of quantitative element analysis in liquids by LIBS technique.
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We propose an approach to determine the excitation energy distribution due to multiphoton absorption in the case of excited systems following decays to produce different ion species. This approach is based on the measurement of the time-resolved photoion position spectrum by using velocity map imaging spectrometry and an unfocused laser beam with a low fluence and homogeneous profile. Such a measurement allows us to identify the species and the origin of each ion detected and to depict the energy distribution using a pure Poisson's equation involving only one variable which is proportional to the absolute photon absorption cross section. A cascade decay model is used to build direct connections between the energy distribution and the probability to detect each ionic species. Comparison between experiments and simulations permits the energy distribution and accordingly the absolute photon absorption cross section to be determined. This approach is illustrated using C60 as an example. It may therefore be extended to a wide variety of molecules and clusters having decay mechanisms similar to those of fullerene molecules.
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Objective: To explore the clinical features, etiological features and prognostic risk factors of long-term glucocorticoid users with community-acquired pneumonia (CAP). Methods: A retrospective study included 100 long-term glucocorticoid users with CAP (G-CAP group) from 11 hospitals of China between January 2014 and December 2014, while 100 non-immunocompromised patients with community-acquired pneumonia were enrolled as controls (nICH-CAP group). Characteristics including age, gender, underlying diseases, corticosteroids, symptoms, disease severity, imaging manifestations, etiology, respiratory failure, mechanical ventilation, whether the application of vasoactive drugs, antibiotics application, hospital mortality rate between the two groups were compared, and the prognostic factors of G-CAP were investigated using Logistic regression. Results: The peripheral blood lymphocytes[1.06(0.70, 1.68) vs 1.44 (0.87, 1.98)]in G-CAP group was less than nICH-CAP group (P<0.05). CT with pulmonary interstitial change (28.6% vs 9.9%), the proportion of patients with respiratory failure (25.0% vs 7.0%), mechanical ventilation (9.0% vs 2.0%), noninvasive mechanical ventilation (12.0% vs 2.0%), septic shock (9.0% vs 2.0%), and the hospital mortality rate (13.0% vs 3.0%) in G-CAP group were significantly higher than in nICH-CAP group (all P<0.05). Bacterial infection accounted for the highest proportion of infection (61.3%) in G-CAP group, but also virus infection (19.4%) and mixed infection (16.1%). Pseudomonas accounted for the highest proportion (47.4%) in bacterial infection of G-CAP. Logistic regression analysis showed that peripheral blood lymphocytes (OR=0.004, 95% CI: 0.000-0.234; P<0.05) and respiratory failure (OR=17.766, 95% CI: 4.933-131.0; P<0.05) were independent predictors of death in G-CAP group. Conclusions: The proportion of severe pneumonia and the mortality rate of patients with G-CAP are higher than the patients with nICH-CAP. Lymphopenia and respiratory failure are associated with poor outcome of patients with G-CAP.