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Objective: Analyze the cancer screening status of the cancer screening program in urban areas in Shaanxi province in 2019-2020. Methods: The early diagnosis and early treatment project for urban cancers carried out high-risk population screening for 5 types of high-incidence malignant tumors (breast cancer, lung cancer, upper gastrointestinal cancer, liver cancer, and colorectal cancer) in urban areas. Three prefecture-level cities in Shaanxi province with a population of over 1 million (Xi'an, Baoji, and Shangluo) were selected, and 4 communities with a relatively good working foundation were selected in each city. The general population aged 45-74 years was surveyed on the principles of informed consent and voluntariness, and high-risk groups identified through the questionnaire were further subjected to free endoscopy, ultrasound, CT, and other clinical screenings. The high-risk rates, screening compliance rates, and positive detection rates of the above 5 types of malignant tumors were analyzed. Results: A total of 19 632 people completed the survey effectively, with the proportion of male participants (40.0%) lower than that of females (60.0%). A total of 10 102 high-risk groups were identified, with an initial screening high-risk rate of 51.5%, and the high-risk rates for the 5 types of cancers were 24.1% for breast cancer, 28.6% for lung cancer, 9.1% for upper gastrointestinal cancer, 4.0% for liver cancer, and 20.0% for colorectal cancer. Among the 14 960 person-time initially assessed as high-risk, 5 129 person-time received clinical screening, with a screening compliance rate of 34.3%. The number of people receiving clinical screening and the screening compliance rates for the 5 types of cancers were 1 192 (41.9%) for breast cancer, 2 081 (37.1%) for lung cancer, 574 (32.0%) for upper gastrointestinal cancer, 404 (51.3%) for liver cancer, and 878 (22.3%) for colorectal cancer, with positive detection numbers and rates of 179 (15.0%) for breast, 289 (13.9%) for lung, 9 (1.6%) for upper gastrointestinal, 14 (3.5%) for suspected liver, and 67 (7.6%) for colorectal, respectively. Conclusion: The cancer screening status of the cancer screening program in urban areas in Shaanxi province is beneficial for the detection of precancerous lesions and early cancer patients, and improving the early diagnosis and treatment rate of patients, but the public participation rate is not high, and the project management model and technical plan need to be further improved.
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Neoplasias da Mama , Neoplasias Colorretais , Detecção Precoce de Câncer , Neoplasias Pulmonares , Humanos , Detecção Precoce de Câncer/métodos , Detecção Precoce de Câncer/estatística & dados numéricos , Feminino , Masculino , Pessoa de Meia-Idade , Idoso , China/epidemiologia , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/epidemiologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/diagnóstico por imagem , Programas de Rastreamento/métodos , Inquéritos e Questionários , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/epidemiologia , Neoplasias Hepáticas/diagnóstico por imagem , População Urbana/estatística & dados numéricos , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/epidemiologia , Neoplasias/diagnóstico , Neoplasias/epidemiologiaRESUMO
Objective: To analyze long-term prognosis and influencing factors of recurrence in vocal fold leukoplakia treated by endoscopic cordectomy with CO2 laser. Methods: A retrospective review was conducted on 599 patients with vocal fold leukoplakia [566 males and 33 females, aged 17-84 years (median age 55 years)], undergoing endoscopic cordectomy by CO2 laser under general anesthesia at the Department of Otorhinolaryngology Head and Neck Surgery of Beijing Tongren Hospital, Capital Medical University, from January 2000 to December 2023. The study analyzed the clinical features, pathological grade, surgical methods, postoperative voice function, recurrence, malignant changes and analyzed the long-term efficacy and and its influencing factors. The patients were followed up for a duration of 6-249 months postoperatively, with a median follow-up time of 48 months. SPSS 20.0 software was used for statistical analysis. Results: Among the 599 patients, the histopathological grades included simple squamous cell hyperplasia in (n=264, 44.08%), mild dysplasia (n=96, 16.03%), moderate dysplasia (n=74, 12.35%), severe dysplasia(n=43, 7.81%), carcinoma in situ(n=35, 5.84%), and carcinoma in situ with microinvasion(n=87, 14.52%). The 3-year and 5-year overall recurrence rates were 12.91% and 16.00%, respectively. In patients with precancerous lesion, 3.91% of recurrences presented with an upgraded pathologic grade and 2.34% evolved into carcinoma. The risk of recurrence was higher in lesions involving the anterior commissure, larger lesions, significant reduction/absence of mucosal waves, neovascularization/suspected neovascularization, and pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinvasion(F=44.76,21.54,11.55,8.78,23.20,respectively,P<0.05). Additionally, patients with recurrent disease exhibited higher reflux symptom index scores compared to those without recurrence. Exophytic lesion characteristics and the inability to cease smoking postoperatively were identified as independent risk factors for recurrence with an upgraded pathological grade, with odds ratios of 8.675 and 11.380 times greater than those with non-exophytic lesions and successful smoking cessation, respectively. At the 6-months postoperative assessment, patients who underwent subepithelial cordectomy (typeâ ) demonstrated a statistically significant increase in fundamental frequency (t=-3.38, P<0.05), and while other voice acoustic parameters were not significantly different.Conversely, those who underwent transmuscular cordectomy (Typeâ ¢) exhibited significant alterations in multiple voice acoustic parameters when compared to preoperative values (P<0.05). Furthermore, postoperative vocal fold adhesions developed in 84 patients with 13 of these individuals requiring surgical intervention for adhesion release. Conclusions: Lesions involving the anterior commissure, larger lesions, pathology of dysplasia/carcinoma in situ/carcinoma in situ with microinfiltration, significant reduction/absence of vocal fold mucosal waves, and neovascularization visible under NBI are indicative of an increased risk of recurrence, whereas exophytic lesions and the inability to cease smoking postoperatively significantly increase the risk of recurrence with elevated pathologic grade. Recovery of postoperative voice quality is procedure-dependent, underscoring the importance of surgical approach selection in the management of vocal fold leukoplakia.
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Lasers de Gás , Leucoplasia , Prega Vocal , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Prega Vocal/cirurgia , Adulto , Idoso , Estudos Retrospectivos , Leucoplasia/cirurgia , Lasers de Gás/uso terapêutico , Adulto Jovem , Idoso de 80 Anos ou mais , Adolescente , Resultado do Tratamento , Neoplasias Laríngeas/cirurgia , Neoplasias Laríngeas/patologiaRESUMO
To determine the efficacy and safety of selinexor combined with venetoclax (VEN) and azactitidine (AZA) for patients with relapsed and/or refractory acute myeloid leukemia (R/R AML) . Twelve patients with R/R AML treated with selinexor plus VEN and AZA in the Affiliated Cancer Hospital of Zhengzhou University from May 2022 to May 2023 were included. Their clinical data were retrospectively analyzed. Among the 12 R/R AML patients, 5 (41.7%) achieved complete remission (CR) , 1 (8.3%) achieved CR with incomplete hematological recovery, and 5 (41.7%) achieved partial remission. The median time to reach CR was 28 (16-59) days. The median PFS was 61 (15-300) days. The main adverse event of the regimen was hematological toxicity. No chemotherapy-related deaths were observed. The combination of selinexor plus VEN and AZA is an effective treatment for R/R AML patients.
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Protocolos de Quimioterapia Combinada Antineoplásica , Compostos Bicíclicos Heterocíclicos com Pontes , Hidrazinas , Leucemia Mieloide Aguda , Sulfonamidas , Triazóis , Humanos , Triazóis/administração & dosagem , Leucemia Mieloide Aguda/tratamento farmacológico , Sulfonamidas/administração & dosagem , Sulfonamidas/efeitos adversos , Hidrazinas/administração & dosagem , Hidrazinas/uso terapêutico , Compostos Bicíclicos Heterocíclicos com Pontes/administração & dosagem , Compostos Bicíclicos Heterocíclicos com Pontes/efeitos adversos , Estudos Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Masculino , Feminino , Quimioterapia de Indução/métodos , Pessoa de Meia-Idade , AdultoRESUMO
An LED-side-pumped Nd:YAG/Cr4+:YAG passively Q-switched (PQS) laser containing an extracavity optical parametric oscillator (EOPO) is demonstrated. As far as we know, it is the first LED-pumped eye-safe laser. The Nd:YAG pump module is optimized to increase the PQS pulse energy to 24 mJ at 1064â nm. By using a single-pass EOPO design, the output energy of the signal pulse at 1573â nm is 7.44 mJ with a pulse width of 16â ns, the peak power is 434â kW, and the pump-to-signal conversion efficiency is 31%. For double-pass EOPO operation, the pump-to-signal conversion efficiency increases to 45.8%, the output energy of signal pulse is up to 10.98 mJ with a pulse width of 23.5â ns, and the peak power is 459â kW.
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Objective: To investigate the risk factors for organoid culture failure in colorectal cancer. Methods: This was a retrospective observational study. Tumor specimens were obtained from 1130 patients with colorectal cancer who had undergone surgery or biopsy and had no other concurrent malignancies at Nanfang Hospital of Southern Medical University from December 2021 to November 2022. Organoid culture was performed on 1231 tumor tissue samples. Univariate analysis and multivariate logistic regression were used to analyze the factors that might have influenced the rate of successful organoid culture of colorectal cancer tissue samples. Results: The median (range) duration of organoid culture was 7 (3-12) days. The overall rate of successful culture was 76.3% (939/1231). The rate of successful organoid cultures varied according to the sampling site, malignant ascites having the highest success rate (96.4%, 27/28), followed by liver metastases (83.1%, 54/65), lung metastases (8/10), primary tumors (76.0%, 816/1074), omental metastases (10/14), peritoneal metastases (61.5%, 16/26), ovarian metastases (3/5), and lymph node metastases (5/9). The difference in rates of successful organoid culture between primary tumors and malignant ascites was statistically significant (P=0.012), whereas none of the other rates of successful organoid culture success differed significantly (all P>0.05). The rate of successful organoid culture was 96.4% (27/28) for malignant ascites obtained by abdominal puncture, 76.5% (864/1130) for surgical specimens, and 65.8% (48/73) for endoscopic biopsies; these differences are statistically significant (χ2=10.773, P=0.005). The rate of successful organoid culture was 62.5% (40/64) in the neoadjuvant chemoradiotherapy group, which is significantly lower than in the non-adjuvant (76.9%, 787/1023) and chemotherapy groups (77.8%, 112/144) (χ2=7.134, P=0.028). Multivariate logistic regression analysis revealed that endoscopic biopsy (OR=0.557, 95%CI: 0.335-0.924, P=0.024) and neoadjuvant chemoradiotherapy (OR=0.483, 95%CI: 0.285-0.820, P=0.007) were independent risk factors for failure of organoid culture of colorectal cancer samples. Malignant ascites (OR=8.537, 95%CI:1.154-63.131,P=0.036) and abdominal puncture (OR=8.294, 95% CI: 1.112-61.882, P=0.039) were identified as independent protective factors. Conclusions: The rate of successful organoid culture was influenced by the sampling site, sampling method, and chemoradiotherapy. The rate of successful organoid culture was lower for endoscopic biopsies and in patients receiving preoperative neoadjuvant chemoradiotherapy, and higher for malignant ascites. We consider that culture of malignant ascites is preferable when peritoneal metastases are suspected.
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Neoplasias Colorretais , Neoplasias Peritoneais , Humanos , Neoplasias Peritoneais/secundário , Ascite , Quimiorradioterapia , Estudos Retrospectivos , Neoplasias Colorretais/patologia , Organoides , PrognósticoRESUMO
We present the electronics developed for a sensitive and stable atomic vector magnetometer used in low-field detections. These electronics are required to be not only highly reliable and sophisticated for signal processing but also compact in size and low cost in resource consumption for the purpose of miniaturization. In addition, this magnetometer works with multiple modulations, where the interferences between harmonics of modulation fields often disturb the long-term measurements of the sensor. We work out a robust method to eliminate this problem by choosing the modulation frequencies with separations to match the minimum response points of the low-pass filters used in the demodulation processes. We validate the performance of the electronics and the frequency-selection scheme of the modulation fields with corresponding experimental results.
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Objective: To explore the method and effect of endoscopic assisted functional rhinoplasty for patients with deviated nose and deviated nasal septum, which achieve correction of nasal morphology and ventilation dysfunction. Methods: The clinical data of 226 patients with deviated nose and deviated nasal septum from June 2009 to February 2022 who were treated by endoscopic assisted functional rhinoplasty in the Affiliated Hospital of Qingdao University were analyzed retrospectively. There were 174 males and 52 females, with the age ranging from 7 to 67 years old. The effect was evaluated by subjective and objective evaluation methods. SPSS 27.0 software was used for statistical analysis. Results: All patients were followed up for 6 to 24 months, 174 cases were cured (174/226, 76.99%), 52 cases were effective (52/226, 23.01%), and the total effective rate was 100% (226/226). The difference between preoperative and postoperative facial appearance deviation was statistically significant ((6.84±2.25)mm vs (1.82±1.05)mm, t=38.94, P<0.001), and the nasal ventilation function of all patients was improved. Conclusions: Endoscopic assisted functional rhinoplasty for the patients with deviated nose combined with deviated nasal septum has the advantages of clear surgical field, fewer complications, and good result. It can achieve the purpose of simultaneous correction of nasal and ventilation dysfunction, which is recommended for popularizing in clinical application.
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Neoplasias Laríngeas , Laringe , Neurofibromatose 1 , Humanos , Neoplasias Laríngeas/cirurgiaRESUMO
Objective: Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants. Methods: In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2. Results: We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients. Conclusion: Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.
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Doença de Charcot-Marie-Tooth , Subunidades gama da Proteína de Ligação ao GTP , Povo Asiático/genética , Doença de Charcot-Marie-Tooth/epidemiologia , Doença de Charcot-Marie-Tooth/genética , China , Feminino , GTP Fosfo-Hidrolases/genética , Subunidades gama da Proteína de Ligação ao GTP/genética , Testes Genéticos , Humanos , Masculino , Proteínas Mitocondriais/genética , Mutação , Ubiquitina-Proteína Ligases/genéticaRESUMO
With an increasing incidence rate, ischemic stroke has become a major public health problem. Early and effective secondary prevention is a key strategy for reducing its high morbidity, high recurrence and high mortality. Combined with the clinical phenotypes and imaging features, the application of potential blood biomarkers can provide the scientific basis for early screening and treatment monitoring to assess stroke recurrence risk stratification, then guide individualized secondary prevention. This article describes and analyzes the current clinical application, existing challenge, and the future development model of blood biomarkers in the field of secondary stroke prevention.
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AVC Isquêmico , Acidente Vascular Cerebral , Biomarcadores , Humanos , Incidência , Prevenção Secundária , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/prevenção & controleRESUMO
We investigate the Dirac-cone-like (DCL) topological electronic properties of nematic-like antiferromagnetic (AFM) states of monolayer FeSe and FeTe designed artificially through first-principles calculations and Wannier-function-based tight-binding (WFTB) method. Our calculations reveal most of them have a pair of DCL bands on the Γ-Xline in the Brillouin zone (BZ) near the Fermi level and open a gap of about 20 meV in the absence and presence of spin-orbit coupling (SOC), respectively, similar to the lowest-energy pair-checkerboard AFM FeSe. We further confirm that they are weak topological insulators based on nonzeroZ2and fragile surface states, which are calculated by the WFTB method. For FeSe and FeTe in pair-checkerboard AFM states, we find that the in-plane compression strain in a certain range can give rise to another pair of DCL bands located on the Γ-X' line in the BZ. In addition, the magnetic moments, energies, and Fe-Se/Te distances for various nematic-like AFM configurations are presented. These calculations the combining effect of magnetism and topology in a single material and the understanding of the superconducting phenomena in iron-based FeSe and FeTe.
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Objective: To analyze the clinical characteristics of Wilson's disease (WD) with onset of acute liver failure (ALF) in children. Methods: Clinical data of 19 children diagnosed with WD presented with ALF in Xi'an Children's Hospital from January 2016 to April 2021 were retrospectively analyzed, including general condition, clinical manifestation, laboratory examination, and gene detection. The children were divided into the death group and survival group according to the clinical outcome. The children who had hepatic WD with non-ALF onset during the same period were selected as the control. The general conditions and laboratory indexes were compared between death group and survival group, ALF group and non-ALF group. T-test, Mann Whitney U test or χ2 test were used to compare the differences between the two groups. Results: Of the 19 WD children with ALF onset, 10 were females and 9 were males. The age of admission was (10.1±2.6) years and time to onset of first visit was 9 (4, 15) days. Among the WD children with ALF onset, 4 children were lost to follow-up, 5 cases death (death group) and 10 cases survived (survival group). The ceruloplasmin in the death group was higher than that in the survival group (0.078 (0.055, 0.105) vs. 0.033 (0.027, 0.058) g/L, Z=-2.33, P=0.020). There were 95 children who had hepatic WD with non-ALF onset. The WD patients with ALF onset were older at admission (9.9 (8.0, 11.1) vs. 5.4 (3.7, 6.9) years, Z=-5.25, P<0.001), had higher ceruloplasmin (0.060 (0.030, 0.078) vs. 0.024 (0.006, 0.060) g/L, Z=-3.11, P=0.002), 24 h urinary copper (674 (205, 1 803) vs. 149 (108, 206) µg, Z=-4.25, P<0.001), and positive rate of K-F ring [17/19 vs. 7%(7/95), χ2=50.17, P<0.001] while shorter onset time at initial visit (0.3 (0.1, 0.5) vs. 1.0 (0.7, 6.0) months, Z=-4.28, P<0.001). There was no gender difference between the two groups [9/19 vs. 61%(58/95), χ2=1.22, P=0.269]. Of the 19 WD children with ALF onset, 13 had the ATP7B gene tested, and 15 reported variants were detected. The main variations were c.2333G>T (p. Arg778Leu), c.2621C>T (p. Ala874Val) and c.2975C>T (p. Pro992Leu). The allele frequencies were 6/26(23%), 4/26(15%) and 3/26(12%), respectively. Conclusions: Children of WD onset with ALF are school-aged and above. They have an acute onset, a short course of the disease, and poor prognosis. The positive rate of K-F ring, ceruloplasmin and urinary copper are higher than those of the hepatic WD children with non-ALF onset.
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Degeneração Hepatolenticular , Falência Hepática Aguda , Ceruloplasmina/metabolismo , Criança , Cobre/metabolismo , Feminino , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Humanos , Falência Hepática Aguda/diagnóstico , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/terapia , Masculino , Estudos RetrospectivosRESUMO
Objective: To study the expression and effect of small nuclear ribonucleoprotein-associated protein B (SNRPB) on proliferation and metastasis of liver cancer tissues and cells. Methods: The bioinformatics database starBase v3.0 and GEPIA were used to analyze the expression of SNRPB in liver cancer tissue and normal liver tissue, as well as the survival and prognosis of liver cancer patients. The expression of SNRPB mRNA and protein in liver cancer cell lines were analyzed by qRT-PCR and Western blot. RNA interference technique (siRNA) was used to determine SNRPB protein expression down-regulation. The proliferation effect on hepatocellular carcinoma cells was observed by MTT assay. Transwell invasion and migration assay was used to detect the changes in the metastatic ability of liver cancer cells after SNRPB down-regulation. Western blot was used to detect the changes of epithelial mesenchymal transition (EMT) markers in liver cancer cells after down-regulation of SNRPB expression. Data were compared between two groups and multiple groups using t-test and analysis of variance. Results: The expression of SNRPB was significantly higher in liver cancer tissue than normal liver tissue, and its expression level was correlated with the prognosis of liver cancer patients. Compared with the immortalized hepatocyte LO(2), the expression of SNRPB was significantly increased in the liver cancer cells (P < 0.01). siRNA-SNRPB had significantly inhibited the expression of SNRPB mRNA and protein in liver cancer cells. MTT results showed that the absorbance value was lower in SNRPB knockdown group than negative control group, and the difference at 96 h after transfection was most significant (P < 0.01). Transwell assay results showed that compared with the negative control group, the SNRPB knockdown group (MHCC-97H: 121.27 ± 8.12 vs. 46.38 ± 7.54; Huh7: 126.50 ± 6.98 vs. 41.10 ± 8.01) invasion and migration (MHCC-97H: 125.20 ± 4.77 vs. 43.18 ± 7.32; Huh7: 132.22 ± 8.21 vs. 38.00 ± 6.78) ability was significantly reduced (P < 0.01) in liver cancer cells. Western blot showed that the expression level of epithelial phenotype marker E-cadherin was decreased after down-regulation of SNRPB, while the expression levels of mesenchymal phenotype markers N-cadherin and vimentin was increased, suggesting that down-regulation of SNRPB inhibited EMT in liver cancer cells. Conclusion: SNRPB expression is significantly increased in liver cancer tissues and cells, and it is involved in regulating the proliferation, metastasis and EMT of liver cancer cells.
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Carcinoma Hepatocelular , Neoplasias Hepáticas , Carcinoma Hepatocelular/genética , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Transição Epitelial-Mesenquimal , Regulação Neoplásica da Expressão Gênica , Humanos , Neoplasias Hepáticas/genética , Proteínas Centrais de snRNPRESUMO
Objective: To investigate theaccuracy of artificial intelligence sleep staging model in patients with habitual snoring and obstructive sleep apnea hypopnea syndrome (OSAHS) based on single-channel EEG collected from different locations of the head. Methods: The clinical data of 114 adults with habitual snoring and OSAHS who visited to the Sleep Medicine Center of Beijing Tongren Hospital from September 2020 to March of 2021 were analyzed retrospectively, including 93 males and 21 females, aging from 20 to 64 years old. Eighty-five adults with OSAHS and 29 subjects with habitual snoring were included. Sleep staging analysis was performed on the single lead EEG signals of different locations (FP2-M1, C4-M1, F3-M2, ROG-M1, O1-M2) using the deep learning segmentation model trained by previous data. Manual scoring results were used as the gold standard to analyze the consistency rate of results and the influence of different categories of disease. Results: EEG data in 124 747 30-second epochs were taken as the testing dataset. The model accuracy of distinguishing wake/sleep was 92.3%,92.6%,93.5%,89.2% and 83.0% respectively,based on EEG channel Fp2-M1, C4-M1, F3-M2, REOG-M1 or O1-M2. The mode accuracy of distinguishing wake/REM/NREM and wake/REM/N1-2/SWS , was 84.7% and 80.1% respectively based on channel Fp2-M1, which located in forehead skin. The AHI calculated based on total sleep time derived from the model and gold standard were 13.6[4.30,42.5] and 14.2[4.8,42.7], respectively (Z=-2.477, P=0.013), and the kappa coefficient was 0.977. Conclusions: The autonomic sleep staging via a deep neural network model based on forehead single-channel EEG (Fp2-M1) has a good consistency in the identification sleep stage in a population with habitual snoring and OSAHS with different categories. The AHI calculated based on this model has high consistency with manual scoring.
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Inteligência Artificial , Fases do Sono , Adulto , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Redes Neurais de Computação , Estudos Retrospectivos , Sono , Adulto JovemRESUMO
Objective: To analyze the clinical manifestations and gene mutations of patients with Alagille Syndrome (ALGS) to improve diagnosis and provide a boarder spectrum of gene mutagenesis. Methods: A retrospective study was performed in 18 ALGS patients admitted to Xi'an Children's Hospital from January 2016 to January 2020. Clinical characteristics, biochemical parameters, gene mutations and prognosis were collected and analyzed. Next-generation sequencing of liver disease-related gene panels or the whole exome was carried out for the probands. Mutations of candidate genes were verified by Sanger sequencing in their family members. Based on the comparison with a well-known database of disease, the harmfulness and structures of proteins with novel mutations were predicted, and the pathogenicity was evaluated. Results: There were 9 males and 9 females with ALGS in this study, and the age of initial diagnosis was 2.5 (1.9, 6.8) months. All patients initially presented with cholestasis, with other symptoms including 15 cases of special facial features, 11 cases of butterfly vertebrae, 10 cases of congenital heart disease, 5 cases of posterior corneal embryonic ring (among 16 cases with ophthalmological examination), and 1 case of polycystic kidney disease. A total of 14 JAG1 gene mutations and 6 NOTCH2 gene mutations were identified. Among these newly identified mutations, 6 were associated with JAG1 gene, including c.1213delA (p.T405Lfs*7), c.1270dupG(p.A424Gfs*5), c.1741dupG(p.A581Gfs*8), c.3045delC (p.I1016Ffs*20), c.2000-2A>C and c.625C>A(p.H209N); 4 were associated with NOTCH2 gene, including c.6961dupG(p.A2321Gfs*79), c.518G>T(p.G173V), c.6157C>T(p.R2053C) and c.710G>A(p.R237Q). Sixteen patients were followed up for (37.9±31.5) months. Among these cases, 2 died of liver failure (1 case underwent Kasai operation due to misdiagnosis with biliary atresia), 1 improved after liver transplantation, and 13 were in stable condition after medical treatment. Conclusions: The phenotypes of ALGS are diverse, genetic detection can help diagnosis. The JAG1 and NOTCH2 genes showed a wide array of mutations, with many novel mutations identified in this study.
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Síndrome de Alagille , Síndrome de Alagille/genética , Feminino , Humanos , Lactente , Proteína Jagged-1/genética , Proteína Jagged-1/metabolismo , Masculino , Mutação , Fenótipo , Estudos RetrospectivosRESUMO
Objective: To analysis of high-frequency hearing loss status and risk factors among male noise workers in an automobile manufacturing enterprise in Guangzhou. Methods: From February 2020, a cluster sampling method was used to select 3486 male workers exposed to noise in an automobile manufacturing enterprise in Guangzhou in 2018. After screening, 2608 were selected as the research objects. Pure tone hearing threshold test, noise exposure level test and questionnaire survey were conducted, and the cumulative noise exposure was calculated. Chi square test and unconditional logistic regression were used to analyze the correlation between various factors and high frequency hearing loss. Results: The detection rate of high-frequency hearing loss in noise exposed workers was 34.20% (892/2608) , there were significant differences in the two groups among age, marital status, years of noise exposure, noise exposure equivalent A sound level, CNE, different working hours and exposure to electromagnetic radiation (P<0.05) . Multiple logistic regression analysis showed that age, CNE and exposure to electromagnetic radiation were independent risk factors for high-frequency hearing loss (P<0.05) , three shifts and two shifts were the protective factors for the occurrence of high-frequency hearing loss (OR=0.523, P<0.01) . Conclusion: Noise exposure is the main influencing factor of high-frequency hearing loss of noise-receiving workers in automobile manufacturing enterprises. Enterprises should strengthen noise control in the workplace, improve the working environment of electromagnetic radiation, and implement a scientific and healthy work shift system.
Assuntos
Perda Auditiva Provocada por Ruído , Ruído Ocupacional , Doenças Profissionais , Exposição Ocupacional , Automóveis , Perda Auditiva de Alta Frequência , Perda Auditiva Provocada por Ruído/epidemiologia , Perda Auditiva Provocada por Ruído/etiologia , Humanos , Masculino , Ruído Ocupacional/efeitos adversos , Doenças Profissionais/epidemiologiaRESUMO
Objective: To study LIM kinase 1 (LIMK1) expressional condition, and its regulatory effects on the proliferation and metastasis of hepatocellular carcinoma cells and tissues. Methods: The online database starBase v3.0 and GEPIA were used to analyze the LIMK1 expression in hepatocellular carcinoma cells and normal liver tissues, and then the relevant survival analysis was performed. LIMK1 expression in hepatocellular carcinoma cell line was analyzed by Western blot. Hep3B and Huh7 cells were transiently transfected after LIMK1 protein expression was down-regulated by small interfering RNA (siRNA). LIMK1 effects on the proliferation of Hep3B and Huh7 cells were observed by MTT assay and colony formation assay. Transwell assay was used to detect the change in metastatic ability of hepatocellular carcinoma cell after the down-regulation of LIMK1 expression. Western blot was used to detect the changes of related indexes in the process of epithelial mesenchymal transition after the down-regulation of LIMK1 expression. Data were analyzed by one-way ANOVA. Results: The expression level of LIMK1 in liver cancer tissues was significantly higher than that of normal liver tissues, and was related with prognosis (P â< 0.01). Furthermore, LIMK1 expression in HCC cell lines was significantly higher than that of immortalized liver L02 cells (P < 0.05). Functional correlated experiment showed that the proliferation and metastatic ability of liver cancer cells were significantly inhibited after LIMK1 expression down-regulation (P < 0.05). Simultaneously, LIMK1 was also involved in the process of epithelial-mesenchymal transition. Conclusion: LIMK1 was overexpressed in HCC tissues and cells, and may regulate the proliferation and metastasis of HCC cells and participate in epithelial-mesenchymal transition process.
Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Carcinoma Hepatocelular/genética , Linhagem Celular , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Transição Epitelial-Mesenquimal , Regulação Neoplásica da Expressão Gênica , Humanos , Quinases Lim/genética , Quinases Lim/metabolismo , Neoplasias Hepáticas/genética , Invasividade NeoplásicaRESUMO
Objective: To analyze the effects of noise exposure on the hearing at different frequencies in workers from the automobile manufacturing industry. Methods: A total of 4723 noise workers in a large automobile manufacturing company in Guangzhou were chosen as the research object by using judgment sampling method between April and July, 2018, and carried out 0.5, 1.0, 2.0, 3.0, 4.0 and 6.0 kHz pure tone audiometry threshold to analyze the characteristics of the status of hearing loss at different frequencies and its relationship with the noise exposure time. Results: The detection rate of hearing loss in noise-exposed workers was 29.8% (1406/4723) . Among them, the binaural hearing loss was 21.2% (999/4723) , and single unilateral hearing loss accounted for 8.6% (407/4723) . The hearing loss detection rate of right ear was higher than that of the left ear (P<0.05) , especially in the 6.0 kHz (P<0.001) . The detection rate of increased speech frequency hearing threshold was 1.9% (90/4723) , and the detection rate of increased high-frequency hearing threshold was 28.9% (1366/4723) . The detection rate of increased threshold in both the left and the right ear increased with the increase of frequency (P<0.001) , the increased hearing threshold was the highest at the frequency of 6.0 kHz. The auditory threshold of left ear in 0.5 kHz were higher than that of right ear at the same frequency (P<0.05) . The detection rate of hearing loss increased with the increase of noise exposure time (P<0.001) , and the increased threshold of 3.0, 4.0 and 6.0 kHz from workers increased with the increase of noise exposure time (P<0.001) . Conclusion: There is a significant increased threshold in workers exposed to noise frequency of 6.0 kHz, right ear is more easily damaged than left ear, there is a dose-response relationship for the noise exposure time and high-frequency hearing loss.