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1.
Nature ; 587(7832): 63-65, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-33149293

RESUMEN

Fast radio bursts (FRBs) are millisecond-duration radio transients of unknown physical origin observed at extragalactic distances1-3. It has long been speculated that magnetars are the engine powering repeating bursts from FRB sources4-13, but no convincing evidence has been collected so far14. Recently, the Galactic magnetar SRG 1935+2154 entered an active phase by emitting intense soft γ-ray bursts15. One FRB-like event with two peaks (FRB 200428) and a luminosity slightly lower than the faintest extragalactic FRBs was detected from the source, in association with a soft γ-ray/hard-X-ray flare18-21. Here we report an eight-hour targeted radio observational campaign comprising four sessions and assisted by multi-wavelength (optical and hard-X-ray) data. During the third session, 29 soft-γ-ray repeater (SGR) bursts were detected in γ-ray energies. Throughout the observing period, we detected no single dispersed pulsed emission coincident with the arrivals of SGR bursts, but unfortunately we were not observing when the FRB was detected. The non-detection places a fluence upper limit that is eight orders of magnitude lower than the fluence of FRB 200428. Our results suggest that FRB-SGR burst associations are rare. FRBs may be highly relativistic and geometrically beamed, or FRB-like events associated with SGR bursts may have narrow spectra and characteristic frequencies outside the observed band. It is also possible that the physical conditions required to achieve coherent radiation in SGR bursts are difficult to satisfy, and that only under extreme conditions could an FRB be associated with an SGR burst.

2.
Zhonghua Zhong Liu Za Zhi ; 46(2): 140-145, 2024 Feb 23.
Artículo en Zh | MEDLINE | ID: mdl-38418188

RESUMEN

Objectives: This study aims to explore the clinical significance of lateral pelvic sentinel lymph node biopsy (SLNB) using indocyanine green (ICG) fluorescence navigation in laparoscopic lateral pelvic lymph node dissection (LLND) and evaluate the accuracy and feasibility of this technique to predict the status of lateral pelvic lymph nodes (LPLNs). Methods: The clinical and pathological characteristics, surgical outcomes, lymph node findings and perioperative complications of 16 rectal cancer patients who underwent SLNB using ICG fluorescence navigation in laparoscopic LLND in the Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College during April 2017 and October 2022 were retrospectively collected and analyzed. The patients did not receive preoperative neoadjuvant radiotherapy and presented with LPLNs but without LPLN enlargement (MRI showed the maximum short axes of the LPLNs were ≥5 mm and <10 mm at first visit). Results: All 16 patients were successfully performed SLNB using ICG fluorescence navigation in laparoscopic LLND. Three patients underwent bilateral LLND and 13 patients underwent unilateral LLND. The lateral pelvic sentinel lymph nodes (SLNs) were clearly fluorescent before dissection in 14 patients and the detection rate of SLNs for these patients was 87.5%. Lateral pelvic SLN metastasis was diagnosed in 2 patients and negative results were found in 12 patients by frozen pathological examinations. Among the 14 patients in whom lateral pelvic SLNs were detected, the dissected lateral pelvic non-SLNs were all negative. All dissected LPLNs were negative in two patients without fluorescent lateral pelvic SLNs. The specificity, sensitivity, negative predictive value, and accuracy was 85.7%, 100%, 100%, and 100%, respectively. Conclusions: This study indicates that lateral pelvic SLNB using ICG fluorescence navigation shows promise as a safe and feasible procedure with good accuracy. This technique may replace preventive LLND for locally advanced lower rectal cancer.


Asunto(s)
Laparoscopía , Neoplasias del Recto , Ganglio Linfático Centinela , Humanos , Biopsia del Ganglio Linfático Centinela/métodos , Verde de Indocianina , Relevancia Clínica , Estudios Retrospectivos , Escisión del Ganglio Linfático , Ganglio Linfático Centinela/diagnóstico por imagen , Ganglio Linfático Centinela/cirugía , Ganglio Linfático Centinela/patología , Colorantes , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/cirugía , Ganglios Linfáticos/patología , Laparoscopía/métodos , Neoplasias del Recto/diagnóstico por imagen , Neoplasias del Recto/cirugía , Neoplasias del Recto/patología
3.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 257-263, 2024 Mar 08.
Artículo en Zh | MEDLINE | ID: mdl-38433053

RESUMEN

Objective: To investigate the relationship between 1p/16q loss of heterozygosity (LOH) and 1p gain in Wilms tumor and their clinicopathologic characteristics and prognosis. Methods: A total of 175 Wilms tumor samples received from the Department of Pathology, Beijing Children's Hospital from September 2019 to August 2022 were retrospectively analyzed. The histopathologic type and presence of lymph node involvement were evaluated by two pathologists. The clinical data including patients'gender, age, tumor location, preoperative chemotherapy, and tumor stage were summarized. Fluorescence in situ hybridization (FISH) was done to detect 1p/16q LOH and 1p gain and their correlation with the clinicopathological features and prognosis were analyzed. Results: Among the 175 samples, 86 cases (49.1%) were male and 89 (50.9%) were female. The mean age was (3.5±2.9) years, and the median age was 2.6 years. There were 26 (14.9%) cases with 1p LOH, 28 (16.0%) cases with 16q LOH, 10 (5.7%) cases of LOH at both 1p and 16q, and 53 (30.3%) cases with 1q gain. 1q gain was significantly associated with 1p LOH (P<0.01) and 16q LOH (P<0.01). There were significant differences (P<0.01) between 1q gain, 1p LOH and 16q LOH among different age groups. The rate of 16q LOH in the high-risk histopathological subtype (50.0%) was significantly higher than that in the intermediate-risk subtype (13.6%, P<0.05). The frequency of 1q gain, 1p LOH, and 16q LOH in children with advanced clinical stages (Ⅲ and Ⅳ) was significantly higher than that in children with early clinical stages (Ⅰ and Ⅱ). 1q gain, 1p LOH, and 16q LOH showed no significant correlation with gender, unilateral or bilateral disease, chemotherapy, or lymph node metastasis. The progression-free survival (PFS) time for patients with 1q gain and 1p LOH was significantly shorter than those without these aberrations (P<0.05). Additionally, the PFS time of patients with 16q LOH was slightly shorter than those with normal 16q, although the difference was not statistically significant. Patients with stage Ⅲ to Ⅳ disease exhibiting 1q gain or 1p LOH had a significantly higher relative risk of recurrence, metastasis, and mortality. Conclusions: 1p/16q LOH and 1q gain are associated with age, high-risk histological type, and clinical stage in Wilms tumor. 1q gain and 1p LOH are significantly correlated with the prognosis of Wilms tumor.


Asunto(s)
Neoplasias Renales , Tumor de Wilms , Niño , Humanos , Femenino , Masculino , Preescolar , Lactante , Hibridación Fluorescente in Situ , Estudios Retrospectivos , Pronóstico , Tumor de Wilms/genética , Aberraciones Cromosómicas , Neoplasias Renales/genética , Pérdida de Heterocigocidad
4.
Zhonghua Bing Li Xue Za Zhi ; 53(4): 344-350, 2024 Apr 08.
Artículo en Zh | MEDLINE | ID: mdl-38556817

RESUMEN

Objective: To investigate the clinicopathological features, immunophenotype and molecular genetic characteristics of congenital spindle cell/sclerosing rhabdomyosarcoma. Methods: Sixteen cases (including 10 consultation cases) of congenital spindle cell/sclerosing rhabdomyosarcoma diagnosed at the Beijing Children's Hospital, Capital Medical University, Beijing China, from April 2017 to January 2022 were collected. These cases were evaluated for clinical profiles, histomorphological features, immunophenotype and molecular characteristics. Results: Among the 16 patients, 9 were male and 7 were female. Five cases were present during maternal pregnancy and 11 cases were found immediately after birth. The tumors were located in the chest wall, low back, retroperitoneum, extremities or perineum. The tumors consisted of fasciculated spindle-shaped cells with localized mesenchymal sclerosis and vitreous metaplasia. Immunohistochemistry showed that the tumor cells expressed Desmin, Myogenin, MyoD1, SMA, CD56 and ALK to varying degrees, but not other markers such as CD34, CD99, pan-TRK, S-100 and BCOR. FISH analyses with NCOA2 (8q13) and VGLL2 (6q22) gene breakage probes revealed a breakage translocation in chromosome NCOA2 (8q13) in 4 cases (4/11). In the 6 cases subject to sequencing, a mutation at the p.L122R locus of MYOD1 gene was detected in 1 case (1/6). Two cases were examined by electron microscopy, which showed bundle-arranged myofilaments with some primitive myofilament formation. Five cases were resected with simple surgery, 2 cases were biopsied and followed up with observation only, and 9 cases were treated with surgery and adjuvant chemotherapy. Follow-up was available in 12 cases. At the end of the follow-up, 2 of the 12 patients developed local recurrences and 2 patients survived with disease. Conclusions: Congenital spindle cell/sclerosing rhabdomyosarcoma is a rare subtype of congenital rhabdomyosarcoma. It more commonly occurs in the chest, back and lower limbs of infants than other sites. NCOA2/VGLL2 gene fusion seems to be the most common genetic change. Its prognosis is better than other subtypes of rhabdomyosarcoma and those in adolescents and adults with the same subtype. Analysis and summary of its clinicopathological features can help differentiate it from other soft tissue tumors in infants and children and provide the information for appropriate treatments.


Asunto(s)
Rabdomiosarcoma , Neoplasias de los Tejidos Blandos , Adulto , Niño , Lactante , Adolescente , Humanos , Masculino , Femenino , Rabdomiosarcoma/genética , Factores de Transcripción/genética , Neoplasias de los Tejidos Blandos/patología , Mutación , Pronóstico
5.
J Endocrinol Invest ; 46(7): 1361-1371, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36508127

RESUMEN

PURPOSE: Pseudohypoxia type (PHT) pheochromocytomas and paragangliomas (PPGLs) are more likely to metastasize and have a poor prognosis. However, application of genetic tests has many restrictions. The study aims to establish a novel nomogram for predicting the risk of PHT PPGLs. METHODS: This retrospective cross-sectional study included 242 patients with pathology confirmed PPGLs in one tertiary care center in China in 2010-2021. Clinical and biochemical characteristics were collected. Next-generation sequencing was performed in all PPGLs patients for detection of mutation. Univariate and multivariable logistic regression analyses were used to select risk factors for constructing the nomogram. The area under the receiver operating characteristic (ROC) curve (AUC) was used to evaluate the discrimination of the nomogram and the calibration curve was performed. RESULTS: Four variables including age ≤ 35 years, hypertension, 24 h urinary output of urinary vanillylmandelic acid (VMA) ≥ 100 umol/24 h and urinary 17-ketosteroide (17 KS) ≤ 50 umol/24 h levels were independently associated with PHT PPGLs in the logistic regression analysis and were included in the nomogram. The nomogram showed a good discrimination performance with AUC of 0.829 [95% confidence interval (CI), 0.767-0.891] in the training set and 0.797 (95%CI, 0.659-0.935) in the validation set, respectively. The calibration curve showed a bias-corrected AUC of 0.809 vs. 0.795, and a Hosmer-Lemeshow (H-L) test yielded a p value of 0.801 vs. 0.885, indicating the nomogram's good ability to distinguish PHT PPGLs from non-PHT PPGLs. CONCLUSION: Our study has proposed a novel nomogram for individualized prediction of the PHT PPGLs, which may make contributions to guide the patients' personalized management, follow-up, and treatment.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales , Paraganglioma , Feocromocitoma , Humanos , Adulto , Nomogramas , Estudios Retrospectivos , Estudios Transversales
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(4): 755-757, 2023 Aug 18.
Artículo en Zh | MEDLINE | ID: mdl-37534663

RESUMEN

Stevens-Johnson syndrome is a type of severe drug eruption, which is characterized by rapid onset and rapid progress. If not treated in time, it can develop into toxic epidermal necrolysis, even life-threatening. Common sensitizing drugs include sulfa, carbamazepine, etc. In China, reports and studies of carbamazepine causing Stevens-Johnson syndrome mainly focus on the HLA-B * 1502 gene, and there are no reports of HLA-A * 3101 gene positive. We reported a patient who got Stevens-Johnson syndrome with HLA-A * 3101 gene positive caused by carbamazepine. She took carbamazepine for trigeminal neuralgia and had never taken the drug before. After 2 weeks, papules and edematous target-like erythema gradually appeared on the trunk and limbs, surface blisters and scabs, and the oral, eyes, and vulvar mucosa appeared erosion, accompanied by fever and pain, with an area of about 3% exfoliation. She was diagnosed with Stevens-Johnson syndrome and admitted to Peking University Third Hospital on March 24, 2020. After admission, in order to identify the sensitizing drugs, We performed a genetic test on her for carbamazepine-related drugs. The results showed that the HLA-A * 3101 gene was positive, and the HLA-B * 1502 and HLA-B * 5801 genes were negative. In terms of treatment, the patient was systematically given a single intravenous infusion of 300 mg of infliximab, and symptomatic treatment and care of the oral, eye, and vulvar mucosa. After 6 days, the rash on the trunk and limbs subsided, and the mucosa returned to normal and was discharged from the hospital. Retrieving domestic and foreign literature, it is not uncommon to report that carbamazepine causes drug eruption, including severe drug eruption, and there are obvious ethnic differences in the pathogenicity of HLA genotyping. In China and Asia, stu-dies on carbamazepine causing Stevens-Johnson syndrome emphasized that the adverse reactions were strongly related to the HLA-B * 1502 gene. However, there is a strong correlation with HLA-A * 3101 gene in people suffering from the disease in Europe and Japan. In this case report, the HLA-B * 1502 gene was negative and the HLA-A * 3101 gene was positive. This is the first domestic report that carba-mazepine causes HLA-A * 3101 positive for Stevens-Johnson syndrome. This report reminds that HLA-A * 3101 gene testing should be taken seriously besides HLA-B * 1502 gene.


Asunto(s)
Carbamazepina , Síndrome de Stevens-Johnson , Femenino , Humanos , Anticonvulsivantes/efectos adversos , Carbamazepina/efectos adversos , Pueblos del Este de Asia , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Síndrome de Stevens-Johnson/genética
7.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(12): 2110-2116, 2023 Dec 06.
Artículo en Zh | MEDLINE | ID: mdl-38186163

RESUMEN

Objective: By analyzing the prevalence and influencing factors of thyroid nodules (TN) among a population undergoing physical examinations in Nantong region, this study aims to provide theoretical basis for early prevention and intervention of TN. Methods: A cross-sectional study was conducted, including 6 950 participants who underwent physical examinations at the Affiliated Hospital of Nantong University from January 2017 to April 2020. All participants underwent high-resolution ultrasound examination of the thyroid, and measurements of height, body mass index (BMI), blood pressure. Fasting blood glucose (FBG), total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C), uric acid (UA), homocysteine (HCY) and other metabolic indicators were detected. Data analysis was performed using SPSS 26.0 statistical software. The numerical variables with normal distribution were expressed as mean±standard deviation (x¯±s), and the t-test was used for comparison between the two groups. Numerical variables with non-normal distribution were expressed as median (interquartile range), namely M (Q1, Q3). The Mann-Whitney U test was used for comparison between two groups, and the Kruskal-Wallis test was used for comparison between multiple groups. Results: The prevalence of thyroid nodules among the 6 950 participants was 53.97% (3 751/6 950), with a rate of 47.08% (2 218/4 711) in males and 68.47% (1 533/2 239) in females, which was significantly higher in females than in males (χ2=278.575, P<0.001). The prevalence of TN increased with age both overall (χ2=552.145, P<0.001), in males (χ2=304.086, P<0.001), and in females (χ2=202.178, P<0.001). The prevalence of TN was higher in females than in males across different age groups (P<0.05). In the comparison between males in the TN and non-TN groups, significant differences were found in terms of alcohol consumption history, BMI, blood pressure, HCY, and FBG (all P<0.05). In the comparison between females in the TN and non-TN groups, significant differences were found in terms of BMI, blood pressure, HCY, FBG, TC, TG, LDL-C, and UA (all P<0.05). Univariate logistic regression model showed that FBG<6.1 mmol/L (P<0.001) and TC<5.2 mmol/L (P=0.013) were protective factors for TN. Normal UA (P=0.013) was a risk factor for TN. After adjusting for gender, smoking, alcohol consumption, BMI, and blood pressure, multivariate logistic regression analysis revealed that FBG<6.1 mmol/L (OR: 0.713, 95%CI: 0.621-0.817, P<0.001) was a protective factor against TN. Conclusion: The prevalence of TN is relatively high in the Nantong region. Gender, age, blood pressure, BMI, and FBG are important influencing factors for TN. Health screening and management should be strengthened for the physical examination population with abnormal indicators.


Asunto(s)
Nódulo Tiroideo , Femenino , Masculino , Humanos , Nódulo Tiroideo/epidemiología , LDL-Colesterol , Estudios Transversales , Examen Físico , Índice de Masa Corporal , Homocisteína
8.
Artículo en Zh | MEDLINE | ID: mdl-36882279

RESUMEN

Objective: To analyze the clinical and imaging characteristics of stage Ⅰ occupational cement pneumoconiosis patients. Methods: In October 2021, the data of patients with occupational cement pneumoconiosis diagnosed by the Third Hospital of Peking University from 2014 to 2020 were collected, and the data of the patients' initial exposure age, dust exposure duration, diagnosis age, incubation period, chest X-ray findings, lung function and other data were analyzed retrospectively. Spearman grade correlation was used for correlation analysis of grade count data. The influencing factors of lung function were analyzed by binary logistic regression. Results: A total of 107 patients were enrolled in the study. There were 80 male patients and 27 female patients. The inital exposure age was (26.2±7.7) years, the diagnosis age was (59.4±7.9) years, the dust exposure duration was (17.9±8.0) years, and the incubation period was (33.1±10.3) years. The initial dust exposure age and the dust exposure duration in female patients were less than those in men, and the incubation period was longer than that in men (P<0.05). The imaging analysis showed the small opacities as"pp"accounted for 54.2%. 82 patients (76.6%) had small opacities distributed in two lung areas. The lung areas distribution of small opacities in female patients was less than that in male patients (2.04±0.19 vs 2.41±0.69, P<0.001). There were 57 cases of normal pulmonary function, 41 cases of mild abnormality and 9 cases of moderate abnormality. The number of lung regions with small opacities on X-ray was the risk factor for abnormal lung function in cement pneumoconiosis patients (OR=2.491, 95%CI=1.197-5.183, P=0.015) . Conclusion: The patients with occupational cement pneumoconiosis had long dust exposure duration and incubation period, light imaging changes and pulmonary function damage. The abnormal lung function was related to the range of pulmonary involvement.


Asunto(s)
Neumoconiosis , Humanos , Femenino , Masculino , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Polvo , Hospitales , Procesamiento de Imagen Asistido por Computador
9.
Zhonghua Zhong Liu Za Zhi ; 44(4): 360-363, 2022 Apr 23.
Artículo en Zh | MEDLINE | ID: mdl-35448925

RESUMEN

Objective: To explore the effect of primary and acquired resistance to anti-human epidermal growth factor receptor 2 (HER-2) on the overall survival of patients with HER-2 positive advanced breast cancer. Methods: The clinical characteristics of HER-2 positive patients with advanced breast cancer admitted to Cancer Hospital of Chinese Academy of Medical Sciences from January 1998 to December 2018 were collected, and their neoadjuvant/adjuvant and advanced three-line chemotherapy were summarized. Among them, targeted drugs for HER-2 included trastuzumab, pertuzumab, T-DM1, RC48-ADC, lapatinib, pyrotinib, allitinib, sipatinib, seratinib. Based on the duration of benefit from anti HER-2 treatment, the patients were divided into two groups: primary anti HER-2 resistance group and acquired anti HER-2 resistance group. In this study, the overall survival (OS) was used as the main end point. Kaplan-Meier analysis and Cox proportional risk regression model were used to analyze the effects of different drug resistance mechanisms on the overall survival. Results: The whole group of 284 patients were included. The median age of recurrence and metastasis was 48 years old, 155 (54.6%) were hormone receptor (HR) positive and 129 (45.4%) were HR negative, 128 cases (45.1%) were premenopausal and 156 cases (54.9%) were postmenopausal, 277 cases (97.5%) had a score of 0-1 in ECoG PS and 7 cases (2.5%) had a score of more than 2 in the first diagnosis of relapse and metastasis. There were 103 cases (36.3%) in the primary drug resistance group and 181 cases (63.7%) in the secondary drug resistance group. The median overall survival time of the two groups was 24.9 months and 40.4 months, respectively, with statistical significance (P<0.001). Conclusion: Primary resistance to HER-2 is one of the factors of poor prognosis in HER-2 positive breast cancer, and its mechanism needs to be further explored.


Asunto(s)
Neoplasias de la Mama , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/patología , Resistencia a Medicamentos , Femenino , Humanos , Persona de Mediana Edad , Terapia Neoadyuvante , Pronóstico , Receptor ErbB-2/metabolismo , Trastuzumab/uso terapéutico , Resultado del Tratamiento
10.
Zhonghua Yi Xue Za Zhi ; 102(25): 1864-1869, 2022 Jul 05.
Artículo en Zh | MEDLINE | ID: mdl-35768380

RESUMEN

The anticoagulant management of extracorporeal membrane oxygenation(ECMO) is facing great challenges. Complications related to the coagulation system such as bleeding or embolism are one of the main factors affecting the mortality of patients. How to control the dynamic balance between thrombosis and bleeding complications has become the top priority of ECMO management. This article reviews the coagulation changes during ECMO support, how to choose appropriate anticoagulant drugs and anticoagulation monitoring methods, aiming to explore the best anticoagulation strategy for ECMO patients.


Asunto(s)
Oxigenación por Membrana Extracorpórea , Trombosis , Anticoagulantes/uso terapéutico , Coagulación Sanguínea , Oxigenación por Membrana Extracorpórea/efectos adversos , Hemorragia/complicaciones , Humanos , Trombosis/etiología , Trombosis/prevención & control
11.
Zhonghua Yi Xue Za Zhi ; 102(33): 2607-2613, 2022 Sep 06.
Artículo en Zh | MEDLINE | ID: mdl-36058686

RESUMEN

Objective: To investigate the clinical diagnostic value of multi-target stool fecal immunochemical test-DNA (FIT-DNA) test in colorectal cancer (CRC) and advanced adenoma (AA). Methods: A total of 235 patients who were undergoing colonoscopy or colorectal cancer surgery in the Cancer Hospital, Chinese Academy of Medical Sciences from April 2021 to January 2022 were prospectively enrolled. There were 141 males and 94 females, with an average age of (55±13) years (22-86). The patients were divided into two groups, including 215 patients who were first diagnosed but not treated (86 cases of CRC, 12 cases of AA, 25 cases of non-advanced adenoma, 8 cases of hyperplastic or other polyps and 84 apparently healthy cases) and 20 patients in the intervention group (2 cases with a history of CRC surgery, 6 cases with a history of endoscopic surgery, 4 non-CRC patients with special diseases and 8 cases with a history of neoadjuvant chemoradiotherapy). Fresh stool samples were collected before intestinal preparation or surgery for FIT-DNA test using the matching kit for sample processing and nucleic acid purification. KRAS mutation and methylation of BMP3 and NDRG4 genes were detected by fluorescence probe method, and FIT method was employed to detect fecal occult blood. Colonoscopy or pathological biopsy results were used as the gold standard. And the screening and diagnostic efficacy of FIT-DNA test for colorectal cancer and advanced adenoma were evaluated by receiver operating curve (ROC). Results: The sensitivity of FIT-DNA test for early colorectal cancer and advanced adenoma was 7/7 and 8/12, respectively. And the negative predictive value was 98.1% (104/106) and 93.7% (104/111), respectively. The overall screening sensitivity for both early colorectal cancer and advanced adenoma was 15/19, and the negative predictive value was 96.3% (104/108). Besides, the area under the curves (AUCs) were 0.982 (95%CI: 0.960-1.000, P<0.05), 0.758 (95%CI: 0.592-0.924, P<0.05) and 0.841 (95%CI: 0.724-0.957, P<0.05), respectively. Moreover, the diagnostic sensitivity of FIT-DNA test was 98.8% (85/86) for colorectal cancer, 8/12 for advanced adenoma, and 94.9% (93/98) for both colorectal cancer and advanced adenoma, with a specificity of 88.9% (104/117). The AUCs were 0.968 (95%CI: 0.937-0.997, P<0.05), 0.758 (95%CI: 0.592-0.924, P<0.05) and 0.942 (95%CI: 0.905-0.979, P<0.05), respectively. After the inclusion of intervention group, the overall diagnostic sensitivity and specificity of FIT-DNA test was 91.6% (98/107) and 89.1% (114/128), respectively. Conclusion: FIT-DNA test has a high early screening and diagnostic efficacy for colorectal cancer.


Asunto(s)
Adenoma , Neoplasias Colorrectales , Adenoma/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Colorrectales/patología , ADN , Detección Precoz del Cáncer/métodos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sangre Oculta , Adulto Joven
12.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(9): 1289-1294, 2022 Sep 06.
Artículo en Zh | MEDLINE | ID: mdl-36207893

RESUMEN

Objective: To investigate the association between peripheral blood mitochondrial DNA copy number (mtDNAcn) and incident risk of liver cancer. Methods: At the baseline of Dongfeng-Tongji (DFTJ) cohort, 27 009 retirees were recruited from Dongfeng Motor Corporation in 2008. After excluding people without baseline DNA, with current malignant tumor and loss of follow-up, 1 173 participants were randomly selected into a sub-cohort by age-and gender-stratified sampling method at a proportion of 5% among all retirees. A total of 154 incident liver cancer cases identified from the cohort before December 31, 2018 (4 cases had been selected into the sub-cohort) were selected to form the case cohort of liver cancer. For the above 1 323 participants, their baseline levels of mtDNAcn in peripheral blood cells were measured by using quantitative real-time PCR method. The restricted cubic spline analysis was used to fit the shape of the association between baseline mtDNAcn and incident risk of liver cancer. The weighted Cox proportional hazards model was used to estimate the hazard ratio (HR) and 95%CI. Results: In this case-cohort study, the median follow-up time was 10.3 years. The restricted cubic spline analysis indicated that the relationship between peripheral blood mtDNAcn and incident risk of liver cancer followed a U-shaped pattern (Pnon-linear<0.05). All case-cohort population were divided into four subgroups by sex-specific quartiles of mtDNAcn levels among sub-cohort participants, when compared to participants in the Q2 subgroup of mtDNAcn, those in the Q1 subgroup (HR=2.00,95%CI:1.08-3.70) and Q4 subgroup (HR=4.11,95%CI:2.32-7.26) both had a significantly elevated risk of liver cancer, while those in the Q3 subgroup (HR=1.05,95%CI:0.54-2.05) had not. There were no significant multiply interaction effects of aging, gender, tobacco smoking, alcohol drinking and history of chronic hepatitis on the above association (Pinteraction>0.05). Conclusion: Both extremely low and high baseline level of mtDNAcn in peripheral blood cells are associated with an increased risk of incident liver cancer, but the underlying mechanisms need to be further clarified.


Asunto(s)
ADN Mitocondrial , Neoplasias Hepáticas , Estudios de Cohortes , Variaciones en el Número de Copia de ADN , ADN Mitocondrial/genética , Femenino , Humanos , Neoplasias Hepáticas/epidemiología , Neoplasias Hepáticas/genética , Masculino , Mitocondrias
13.
Zhonghua Gan Zang Bing Za Zhi ; 30(11): 1194-1200, 2022 Nov 20.
Artículo en Zh | MEDLINE | ID: mdl-36891697

RESUMEN

Objective: To investigate the prevalence and independent risk factors of non-alcoholic fatty liver disease (NAFLD) and advanced chronic liver disease among the type 2 diabetes mellitus (T2DM) population in the Shenyang community, so as to provide evidence for the prevention and control of T2DM combined with NAFLD. Methods: This cross-sectional study was conducted in July 2021. 644 T2DM cases from 13 communities in Heping District, Shenyang City were selected. All the surveyed subjects underwent physical examination (measurements of height, body mass index, neck circumference, waist circumference, abdominal circumference, hip circumference, and blood pressure), infection screening (excluding hepatitis B and C, AIDS, and syphilis), random fingertip blood glucose, controlled attenuation parameter (CAP), and liver stiffness measurement (LSM). The study subjects were divided into the non-advanced chronic liver disease group and the advanced chronic liver disease group according to whether the LSM value was greater than 10 kPa. Cirrhotic portal hypertension development was indicated in patients with LSM ≥ 15 kPa. The comparison of multiple mean values among the sample groups was performed by analysis of variance when the normal distribution was met. Results: In the T2DM community population, there were 401 cases (62.27%) combined with NAFLD, 63 cases (9.78%) combined with advanced chronic liver disease, and 14 cases (2.17%) combined with portal hypertension. There were 581 cases in the non-advanced chronic liver disease group and 63 cases (9.78%) in the advanced chronic liver disease group (LSM ≥10 kPa), including 49 cases (7.61%) with 10 kPa≤LSM<15 kPa, 11 cases (1.71%) with 15 kPa ≤LSM<25 kPa, and 3 cases (0.47%) with LSM ≥ 25 kPa. Age, body mass, body mass index, neck circumference, waist circumference, hip circumference, waist-to-height ratio, systolic blood pressure, and CAP were all statistically different between the non-advanced chronic liver disease group and the advanced chronic liver disease group (F=-1.983,-2.598,-4.091,-2.062,-3.909, -4.581,-4.295,-2.474, and -5.191, respectively; P<0.05). There was a statistically significant difference in terms of whether or not there was combined cerebrovascular disease (2=4.632, P=0.031); however, there were no statistically significant differences in terms of lifestyle, diabetes complications, and other complications (P>0.05). Conclusion: Patients with T2DM have a higher prevalence of NAFLD (62.27%) than those with advanced chronic liver disease (9.78%). 2.17% of T2DM cases in the community may not have had early diagnosis and early intervention, and they might have been combined with cirrhotic portal hypertension. So, the management of these patients should be strengthened.


Asunto(s)
Diabetes Mellitus Tipo 2 , Diagnóstico por Imagen de Elasticidad , Hipertensión Portal , Enfermedad del Hígado Graso no Alcohólico , Humanos , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Enfermedad del Hígado Graso no Alcohólico/patología , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/complicaciones , Cirrosis Hepática/complicaciones , Estudios Transversales , Hipertensión Portal/complicaciones , Hígado/patología
14.
Ultrasound Obstet Gynecol ; 58(1): 127-132, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33094536

RESUMEN

OBJECTIVE: Transperineal ultrasound is a simple and highly repeatable method that has been used increasingly in the quantification of pelvic organ prolapse, but abnormal uterine descent on ultrasound in Chinese women is still poorly defined. We aimed to determine the optimal cut-off to define abnormal uterine descent on transperineal ultrasound in Chinese women. METHODS: This prospective multicenter study recruited women who were examined in tertiary-level gynecological centers, due to symptoms of lower urinary tract and/or pelvic floor dysfunction, between February 2017 and September 2018. All recruited women underwent a standardized interview, pelvic organ prolapse quantification (POP-Q) examination, and four-dimensional transperineal ultrasound examination. On ultrasound, uterine descent was measured relative to the posteroinferior margin of the symphysis pubis during maximum Valsalva maneuver. The optimal cut-off value for definition of abnormal uterine descent was selected as the value with the highest Youden index and the diagnostic performance of this cut-off for the prediction of prolapse symptoms and POP-Q stage was assessed and compared by means of the area under the receiver-operating-characteristics curve (AUC). RESULTS: In total, 538 Chinese women, with a mean age of 39.4 (range, 18-81) years, were enrolled into the study. Both uterine descent on transperineal ultrasound (P < 0.001) and POP-Q stage (P < 0.001) were associated strongly with presence of prolapse symptoms. Uterine descent on ultrasound was associated significantly with POP-Q stage for apical compartment prolapse (P < 0.001). The optimal cut-off value for the definition of abnormal uterine descent on transperineal ultrasound during maximum Valsalva maneuver in the prediction of prolapse symptoms was 4.79 mm above the symphysis pubis (AUC, 0.75 (95% CI, 0.71-0.78)), while the optimal cut-off values in the prediction of prolapse of POP-Q Stage ≥ 1 and POP-Q Stage ≥ 2 were 6.63 mm above the symphysis pubis (AUC, 0.83 (95% CI, 0.80-0.86)) and 8.42 mm below the symphysis pubis (AUC, 0.85 (95% CI, 0.82-0.88)), respectively. CONCLUSIONS: The optimal cut-off value to define abnormal uterine descent on transperineal ultrasound during maximum Valsalva maneuver for the prediction of prolapse symptoms in this population of Chinese women was 4.79 mm above the symphysis pubis, close to that for predicting apical compartment prolapse of POP-Q Stage ≥ 1 (6.63 mm above the symphysis pubis). These are somewhat different from values described previously in mainly Caucasian populations. Ethnic differences should be taken into account in the evaluation of pelvic organ prolapse using transperineal ultrasound. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Asunto(s)
Síntomas del Sistema Urinario Inferior/diagnóstico por imagen , Trastornos del Suelo Pélvico/diagnóstico por imagen , Ultrasonografía/estadística & datos numéricos , Prolapso Uterino/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , China , Femenino , Humanos , Síntomas del Sistema Urinario Inferior/etiología , Persona de Mediana Edad , Diafragma Pélvico/diagnóstico por imagen , Trastornos del Suelo Pélvico/etiología , Perineo/diagnóstico por imagen , Valor Predictivo de las Pruebas , Estudios Prospectivos , Sínfisis Pubiana/diagnóstico por imagen , Curva ROC , Valores de Referencia , Ultrasonografía/métodos , Prolapso Uterino/complicaciones , Útero/diagnóstico por imagen , Maniobra de Valsalva , Adulto Joven
15.
Zhonghua Zhong Liu Za Zhi ; 43(11): 1164-1169, 2021 Nov 23.
Artículo en Zh | MEDLINE | ID: mdl-34794218

RESUMEN

Objective: To explore the role and molecular mechanism of hepatocyte nuclear factor 4γ (HNF4γ) in proliferation and stemness of gastric cancer. Methods: A total of 102 cases of paraffin-embedded gastric cancer tissues and matched adjacent gastric tissues and 42 cases of fresh-frozen tissues derived from gastric patients who received radical gastrectomy were collected from the First Affiliated Hospital of Zhengzhou University between 2012 to 2015. The expression of HNF4γ was tested by immunohistochemical staining, quantitative real-time polymerase chain reaction (qRT-PCR). HNF4γ overexpressed (AGS-HNF4γ) and shRNA silenced (HGC27-shHNF4γ) gastric cell lines were established. The effects of HNF4γ on cell proliferation and stemness were verified by XTT, clone formation and sphere formation assay. The expression of CD44 was detected by western blot. Results: The mRNA expression level of HNF4γ in fresh-frozen gastric cancer tissue was (12.43±2.702), which was significantly higher than (3.639±1.109) in normal tissue (P<0.001). The high protein expression rate of HNF4γ in paraffin-embedded gastric cancer tissues was 41.2% (42/102), which was significantly higher than 8.8% (9/102) in normal gastric mucosa tissue (P< 0.001). The protein expression of HNF4γ was closely related to the tumor differentiation, infiltration depth, lymph node metastasis and tumor stage (P<0.05). The median survival interval of patients with HNF4γ high expression was 25 months, the 3-year survival rate was 4.8% (2/42), significantly lower than 38 months and 51.7% (31/60) of patients with normal HNF4γ expression (P<0.001). The proliferation and CD44 protein expression of AGS-HNF4γ cells were significantly higher than those of the AGS-Vector cells. The number of clone formation, sphere formation rate of AGS-HNF4γ cells were 243.5±24.5 and (83.5±3.9)%, significantly higher than 81.0±16.0 and (21.8±5.6)% of AGS-Vector cells (P=0.030 and P=0.010, respectively). The proliferation and CD44 protein expression of HGC27-shHNF4 cells were significantly lower than those of the HGC27-vector cells. The number of clone formation, sphere formation rate of HGC27-shHNF4 cells were 26.0±1.0 and (20.8±8.4)%, significantly higher than 83.5±4.5 and (72.5±4.8)% of HGC27-vector cells (P=0.006 and P=0.030, respectively). Conclusions: HNF4γ is upregulated in the gastric cancer tissues and related with the poor prognosis of patients with gastric cancer. Overexpression of HNF4γ promotes the proliferation and remains the stemness of gastric cancer cells by upregulating the expression of CD44.


Asunto(s)
Carcinoma , Factor Nuclear 4 del Hepatocito/fisiología , Neoplasias Gástricas , Línea Celular Tumoral , Proliferación Celular , Gastrectomía , Regulación Neoplásica de la Expresión Génica , Factor Nuclear 4 del Hepatocito/genética , Factor Nuclear 4 del Hepatocito/metabolismo , Factores Nucleares del Hepatocito , Humanos , Pronóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/cirugía
16.
Zhonghua Zhong Liu Za Zhi ; 43(8): 838-842, 2021 Aug 23.
Artículo en Zh | MEDLINE | ID: mdl-34407588

RESUMEN

Objective: To explore the high risk factors of catheter-related thrombosis (CRT) in breast cancer patients, and provide the basis for the development of appropriate prevention and treatment strategies. Methods: A total of 1 432 breast cancer patients scheduled to receive central venous catheterization in National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College from January 1, 2015 to August 31, 2019 were selected. Baseline information and catheterization information of patients were collected. The occurrence of CRT was confirmed by vascular ultrasound examination, and the influencing factors of CRT were analyzed. Results: The total number of catheter days were 121, 980 days in 1 432 patients with breast cancer, and the average number of catheter days in each patient was 85.2 days. The incidence of CRT was 6.8% (97/1 432), which was 0.79 cases/1 000 catheter days. Among 815 patients with centrally inserted central venous catheters (CICC), 43 (5.3%) had CRT, which was 0.70 cases/1 000 catheter days. Among 617 patients with peripherally inserted central venous catheters (PICC), 54 (8.8%) developed CRT, which was 0.90 cases/1 000 catheter days. CRT was most common in subclavian vein (63.9%). Multivariate regression analysis showed that age ≥ 60 years old (OR=1.712, 95% CI: 1.056-2.775, P=0.029), PICC (OR=1.732, 95% CI: 1.130-2.656, P=0.012), the catheter position except subclavian vein (OR=10.420, 95% CI: 1.207-89.991), secondary adjustment of catheter position (OR=3.985, 95% CI: 1.510-10.521, P=0.005) and high D-Dimer level (OR=1.129, 95% CI: 1.026-1.241, P=0.012)were independent risk factors for CRT. Conclusions: The CRT problem can't be ignored in the clinical treatment of breast cancer patients with central venous catheterization. Screening the appropriate age of patients and the type of central venous catheters, reducing the secondary adjustment of catheter position, and timely monitoring the level of D-dimer are helpful to the prevention and treatment of CRT.


Asunto(s)
Neoplasias de la Mama , Cateterismo Venoso Central , Catéteres Venosos Centrales , Trombosis , Cateterismo Venoso Central/efectos adversos , Catéteres Venosos Centrales/efectos adversos , Femenino , Humanos , Persona de Mediana Edad , Factores de Riesgo
17.
Zhonghua Nei Ke Za Zhi ; 60(4): 350-355, 2021 Apr 01.
Artículo en Zh | MEDLINE | ID: mdl-33765705

RESUMEN

Objective: To investigate the predictive value of myoglobin (Mb) for the prognosis of sepsis related chronic critical illness (CCI). Methods: Retrospective study was conducted on septic patients with the length of ICU stay equal or greater than 14 days, and sepsis-related organ failure assessment (SOFA) score equal or greater than 2 on the 14th day in ICU in the First Department of Critical Care Medicine at the First Affiliated Hospital of Sun Yat-sen University from January 2017 to March 2020. Patients' clinical and laboratory data were collected on the 1st and 14th day in ICU. The survival on day 28 in ICU was recorded. According to the myoglobin levels on day 1 and day 14, all subjects were divided into myoglobin elevation group and decline group. Kaplan-Meier survival curve was used to compare the cumulative survival rate at day 28. Cox regression analysis was used to analyze the independent risk factors of mortality. Receiver operating characteristic (ROC) curve was used to analyze the prognostic value of myoglobin. Results: A total of 131 patients with sepsis related CCI were recruited, including 58 patients in the elevation group and 73 in the decline group. The Mb level in elevation group on day 1 was significantly lower than that in decline group [172.40(59.99, 430.53) µg/L vs. 413.60(184.40, 1 328.50) µg/L, Z=3.749, P=0.000], and the Mb level on day 14 was the opposite change in two groups [483.65(230.38, 1 471.75)µg/L in elevation group vs. 132.20(76.86, 274.35)µg/L in decline group, Z=5.595, P=0.000]. Kaplan-Meier survival curve analysis showed that the 28-day cumulative survival rate of the elevation group was significantly lower than that of decline group (χ²=7.051, P=0.008). Cox ratio regression analysis suggested that elevated myoglobin was an independent risk factor for 28-day mortality in septic patients with CCI (OR=2.534, 95%CI 1.212-5.295, P=0.013). ROC curve analysis suggested that the sensitivity of myoglobin elevation in predicting mortality related to CCI within 28 days was 64.5%, and the specificity was 32.0% with area under the curve(AUC) 0.661(95%CI 0.550-0.773,P=0.007) and Jorden Index was 0.325. Conclusion: Elevated myoglobin, an independent risk factor for mortality within 28 days in ICU, can predict the prognosis of sepsis related chronic critical illness.


Asunto(s)
Mioglobina , Sepsis , Enfermedad Crítica , Humanos , Unidades de Cuidados Intensivos , Pronóstico , Curva ROC , Estudios Retrospectivos , Sepsis/diagnóstico
18.
Zhonghua Fu Chan Ke Za Zhi ; 56(2): 96-101, 2021 Feb 25.
Artículo en Zh | MEDLINE | ID: mdl-33631880

RESUMEN

Objective: To investigate the associations between pre-pregnancy body mass index (BMI) and occurrence and clinical features in pregnant women complicated by preeclampsia (PE). Methods: We recruited 42 427 pregnant women who were diagnosed with intrauterine pregnancy at Shenzhen Maternity and Child Healthcare Hospital from July 2017 to December 2019, with a gestational age of 6~8+6 weeks, excluding those with basic diseases and incomplete medical records. Among them, 659 were diagnosed with PE. According to the pre-pregnancy BMI, the pregnant women were divided into underweight group (42 cases), normal body weight group (422 cases), overweight group (138 cases) and obesity group (57 cases). Maternal outcomes (the occurrence of preeclampsia, cesarean delivery rate) and neonatal outcomes (birth weight, Apgar score and neonatal ICU admission) were recorded. The maternal outcomes, gestational age of delivery, delivery mode, newborn birth weight, Apgar score and admission to neonatal ICU were compared among the pregnant women in each group. Logistic regression model was established to analyze the influence of different pre-pregnancy BMI on the occurrence and clinical features of PE. Results: The incidence of PE was 1.55% (659/42 427), and the incidence of PE was 0.61% (42/6 941), 1.44% (422/29 297), 2.62% (138/5 273) and 6.22% (57/916) in the underweight group, the normal weight group, the overweight group and the obesity group, respectively. After adjustment for age, parity, educational level, history of preeclampsia, and in vitro fertilization and embryo transfer (IVF-ET), compared with normal group, the adjusted OR for developing early-onset PE were 0.57 (95%CI: 0.29-1.02) for underweight, 1.03 (95%CI: 0.65-1.56) for overweight and 2.15 (95%CI: 1.03-4.02) for obesity groups. The OR for developing late-onset PE were 0.50 (95%CI: 0.33-0.72) for underweight, 1.57 (95%CI: 1.23-1.99) for overweight and 4.25 (95%CI: 3.00-5.91) for obesity group. The OR for PE without severe features were 0.54 (95%CI: 0.30-0.89), 1.40 (95%CI: 0.97-1.99) and 5.11 (95%CI: 3.22-7.84) for underweight, overweight and obesity groups, respectively. The OR for severe PE were 0.51 (95%CI: 0.33-0.75), 1.42 (95%CI: 1.10-1.83) and 2.97 (95%CI: 1.95-4.38) for underweight, overweight and obesity groups, respectively. The median neonate birth weight in women with PE were 2 420 g (1 602-2 845 g), 2 435 g (1 692-3 030 g), 2 540 g (1 922-3 132 g), and 2 950 g (2 050-3 360 g) for underweight, normal, overweight and obesity groups, respectively. The neonatal birth weight in obesity group was heavier than that in normal group (P<0.05). The incidence rates of large for gestational age (LGA) in PE women were 0 (0/42), 3.3% (14/422), 7.3% (10/138) and 17.5% (10/57) for underweight, normal, overweight and obesity groups, respectively. The incidence rate of LGA in obesity group was higher than that in normal group (P<0.05). Conclusions: Pre-pregnancy obesity is an independent risk factor for PE. Obesity related PE is more likely associated with late-onset PE and LGA. It is recommended to control weight before pregnancy, limit weight gain during pregnancy and control blood pressure to reduce the incidence of PE and ensure the safety of mother and child.


Asunto(s)
Obesidad/epidemiología , Preeclampsia/epidemiología , Aumento de Peso , Índice de Masa Corporal , Niño , Femenino , Humanos , Lactante , Recién Nacido , Sobrepeso/epidemiología , Embarazo , Complicaciones del Embarazo/epidemiología , Resultado del Embarazo/epidemiología , Factores de Riesgo
19.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(8): 945-951, 2021 Aug 06.
Artículo en Zh | MEDLINE | ID: mdl-34445831

RESUMEN

Objective: The hvKP phenotype strains were screened from the sensitive and multi-drug resistant Klebsiella pneumoniae, and the distribution and homology of their clinical infection characteristics were compared. Methods: A total of 158 Klebsiella pneumoniae strains isolated from clinical infection specimens in the Third Affiliated Hospital of Sun Yat-sen University from 2014 to 2018 were retrospectively collected. The string test (ST) was used to screen the hvKP infection, and a total of 65 were screened. The number of patients included 51 males and 14 females, with an average age of 56 years. The composition ratio of Klebsiella pneumoniae was analyzed for clinical infection related information. Matrix assisted laser desorption-ionization time of flight mass spectrometry (MALDI-TOF MS) was used to identify the hypervirulent Klebsiella pneumoniae and establish a new database, and bio-tree cluster analysis and principal component analysis were carried out for all strains that met the experimental conditions by using analysis software and the homology of protein level was obtained. Results: A total of 65 strains hvKP were screened, 62 of which were susceptible strains and 3 were multi-drug resistant strains. The main diseases of infected patients were diagnosed as hepatobiliary disease, encephalopathy and liver abscess. The basic diseases of the population were mainly diabetes and hypertension. Dendrogram cluster analysis divided hvKP into 3 groups at a distance of 550 from the horizontal line; principal component analysis found that some strains were closely related, and the Kc group with the largest proportion was mainly related to hepatobiliary diseases. Ka group was mainly related to infection after surgery. Conclusions: HvKP was highly invasive and the clinical manifestations of infection were diverse. The infected patients were mostly elderly patients with weakened immunity. The rapid homology analysis of MALDI-TOF MS mass spectrometry has important clinical significance for the rapid screening of hvKP infection.


Asunto(s)
Klebsiella pneumoniae , Neumonía , Anciano , Antibacterianos/uso terapéutico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neumonía/tratamiento farmacológico , Estudios Retrospectivos , Virulencia
20.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(12): 1085-1089, 2021 Dec 12.
Artículo en Zh | MEDLINE | ID: mdl-34915622

RESUMEN

Objective: To improve the clinical management of acute pulmonary embolism caused by antithrombin Ⅲ (AT Ⅲ) deficiency through gene sequence analysis of the SERPINC1 gene. Methods: The diagnosis and treatment of a 33-year-old male patient with chest pain was reviewed. All exon sequences and flanking regions of 7 related genes of thrombophilia were subjected to detection by high-throughput next generation sequencing technology. The gene mutation was inquired in the gene database and the pathogenic probability of the mutant gene was predicted by Mutation Taster software. Results: The patient was diagnosed with acute pulmonary embolism (intermediate-low risk), with the ATⅢ activity less than 50%. Anticoagulation with nadroparin calcium combined with warfarin was administrated, but hemoptysis was aggravated, and then the medication was replaced by anticoagulant of rivaroxaban. In the end, the embolus was gradually absorbed. A heterozygous missense mutation of c.1148T>A (p.L383H) in the SERPINC1 gene was detected. The gene database and Mutation Taster confirmed the mutation as a new pathogenic mutation with the pathogenic probability of 0.999 999 851 200 991. Conclusions: C.1148T>A (p.L383H) is a novel pathogenic mutation in SERPINC1 gene that complements and updates the gene mutation spectrum of hereditary AT Ⅲ deficiency. The new oral anticoagulant rivaroxaban may be used as the first-line treatment for these patients.


Asunto(s)
Antitrombina III , Embolia Pulmonar , Adulto , Antitrombina III/genética , Humanos , Masculino , Mutación , Embolia Pulmonar/genética
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