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1.
Cancer Research on Prevention and Treatment ; (12): 110-114, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1011507

RESUMO

Objective To explore a precise method with a microwave antenna for puncture of pulmonary nodules and analyze phenomena that affect the puncture results. Methods Clinical data of 107 cases with solitary malignant pulmonary nodules were collected, and the mean length of pulmonary nodules was 13.6±0.6 mm in CT axial position. A thread-hanging method was used to assist the puncture of pulmonary nodules. The procedure was successful when the needle was not withdrawn and inserted into the central region of the nodule. The success rate and complications of the pulmonary procedure were recorded. The incidence of the following phenomena were also documented: needle coercing, needle slipping, needle tip pushing, pulmonary nodule prolapsing, radial nodule deformation, nodular masking, and radial movement distance of needle tip. Results In all of 107 cases evaluated, the antenna puncture was successful in 101 cases (94.4%) but failed in 6 cases (5.6%). Pneumothorax and pulmonary hemorrhage occurred in 23 (21.5%) and 19 cases (17.8%), respectively. The following phenomena occurred: needle coercing in 9 cases (8.4%), needle slipping in 6 cases (5.6%), needle tip pushing in 19 cases (17.8%), pulmonary nodule prolapsing in 15 cases (14%), radial nodule deformation in 14 cases (13.1%), and nodular masking in 5 cases (4.7%). The mean radial adjusting distance of needle tip was 0.7±0.4 cm. Conclusion The thread-hanging method can assist in the accurate puncture of microwave antenna for pulmonary nodules. We should focus and deal with phenomena that may occur and affect the result of puncture.

2.
Acta Academiae Medicinae Sinicae ; (6): 581-590, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1008105

RESUMO

Objective To investigate the effects of Weidiao-3(WD-3)Mixture on the clinical efficacy of immunotherapy for advanced gastric cancer and the intestinal flora.Methods Fifty-one patients with advanced gastric cancer treated in Wuxi Traditional Chinese Medicine Hospital from January 2020 to December 2021 were randomized into a WD-3 group(immunotherapy + WD-3 Mixture,one dose per day)(n=25)and a gastric cancer(GC) group(only immunotherapy)(n=26)according to the admission time.Ten healthy volunteers were included as the healthy control group.The Karnofsky score and the Quality of Life Questionnare-Core score were evaluated before and after treatment,and the clinical efficacy was compared after treatment.After treatment,the stool samples were collected for 16SrRNA gene high-throughput sequencing and targeted metabolomics.The α and β diversity and structure of the intestinal flora and the content of short-chain fatty acids were compared between groups.Results The quality of life in both groups improved after treatment and was better in the WD-3 group than in the GC group(P=0.035).The dry mouth(P=0.038)and altered taste(P=0.008)were mitigated in the WD-3 group after treatment,and the reflux(P=0.001)and dry mouth(P=0.022)were mitigated in the GC group after treatment.After treatment,the WD-3 group outperformed the GC group in terms of dysphagia(P=0.047)and dry mouth(P=0.045).The WD-3 group was superior to the GC group in terms of objective remission rate and disease control rate,with prolonged median progression-free survival and median overall survival(P=0.039,P=0.043).The α and β diversity indexes of the intestinal flora showed no significant differences between WD-3 and GC groups(all P>0.05).At the phylum level,WD-3 and GC groups had lower relative abundance of Firmicutes(P=0.038,P=0.042)and higher relative abundance of Proteobacteria(P=0.016,P=0.015)than the healthy control group.The relative abundance of Actinomycetes in the GC group was lower than that in the healthy control group(P=0.035)and the WD-3 group(P=0.046).At the genus level,the GC group had lower relative abundance of Bifidobacteria and Coprococcus than the healthy control group and the WD-3 group(all P<0.001).LEfSe revealed the differences in the relative abundance of 6 intestinal bacterial taxa between the WD-3 group and the GC group.At the genus level,Saccharopolyspora had higher relative abundance in the WD-3 group than in the healthy control group and only existed in the WD-3 group.The content of isobutyric acid and isovaleric acid in the WD-3 group was higher than that in the healthy control group(P=0.037,P=0.004).Conclusion WD-3 Mixture may increase the relative abundance of Bifidobacteria and Coprococcus and the content of isobutyric acid and isovaleric acid to alter the intestinal microecology,thereby improving the efficacy of immunotherapy for gastric cancer.


Assuntos
Humanos , Isobutiratos , Microbioma Gastrointestinal , Qualidade de Vida , Neoplasias Gástricas/terapia , Imunoterapia , Resultado do Tratamento
3.
Yonsei Medical Journal ; : 692-695, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1003230

RESUMO

Acute ascending hemorrhagic longitudinally extensive transverse myelitis is a rare inflammatory demyelinating disorder, which invades several vertebral segments and progresses rapidly and manifests severe symptoms. We present a case of acute necrotizing myelitis associated with COVID-19 infection. A 10-year-old female, with no previous medical history and no prior administration of COVID-19 vaccination, contracted COVID-19 in early April 2022. Two weeks later, she suffered from severe posterior neck pain and also presented with motor weakness and numbness in both lower extremities, making it difficult to walk independently and spontaneously void urine. Initial spinal cord MR showed longitudinally segmental extensive T2 hyperintensities. Cerebrospinal fluid (CSF) analysis revealed elevated red blood cell, normal white blood cell, and elevated protein levels and absence of oligoclonal bands. CSF culture and viral polymerase chain reaction were negative. Autoimmune work-up was negative. She was started on intravenous methylprednisolone 1g/day for 5 days and immunoglobulin (Ig) 2 g/kg for 5 days. She was also treated with six courses of therapeutic plasma exchange. Nevertheless, her pain and motor weakness persisted. She eventually developed respiratory failure. Follow-up MR presented a newly noted small hemorrhagic component. She was consequently treated with two additional courses of methylprednisolone and Ig. At 6-months follow-up, neurological examination showed improvement with normal sensory function and motor grade IV function in both upper extremities. We present the case of acute necrotizing myelitis associated with COVID-19 infection. Multiple courses of methylprednisolone and Ig showed mild improvement in motor and sensory function. However, poor prognosis was unavoidable due to rapid progression of the disease.

4.
Yonsei Medical Journal ; : 705-711, 2023.
Artigo em Inglês | WPRIM | ID: wpr-1003220

RESUMO

Purpose@#To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I with chronic respiratory failure. @*Materials and Methods@#We retrospectively reviewed seven patients diagnosed with SMA type I and chronic respiratory failure who were on permanent ventilation and treated with nusinersen at Gangnam Severance Hospital between January 2018 and July 2023. Patient demographics and clinical characteristics were recorded, and treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores. @*Results@#Patients initially developed hypotonia at a mean age of 3.7 months. Mean age at start of nusinersen was 7.3 years; the mean duration of follow-up after starting nusinersen was 46.2 months. At 6-, 18-, 38-, 58-, and 74-month follow-up, the mean changes in CHOP-INTEND scores were 1.0, 2.9, 1.8, 1.5, and 1.5, respectively, and the proportions of patients who showed disease amelioration were 28.6%, 71.4%, 75.0%, 100%, and 100%, respectively. @*Conclusion@#Nusinersen is safe and effective in patients with SMA type I, even those with chronic respiratory failure and those on permanent ventilation. No significant adverse effects of nusinersen were observed.

5.
Journal of Clinical Neurology ; : 67-75, 2023.
Artigo em Inglês | WPRIM | ID: wpr-967101

RESUMO

Background@#and Purpose Orthostatic hypotension (OH) is common in patients with Parkinson’s disease (PD). Early recognition OH is required with sensitive assessments. The purpose of this study was to determine whether blood pressure (BP) changes during exercise can predict the occurrence of OH in PD. @*Methods@#This prospective cohort study included 80 consecutive patients with PD. All patients agreed to participate in a baseline evaluation and cardiopulmonary exercise test (CPET).According to the initial active standing test (AST), those without OH (PD-nonOH) at baseline had their AST results followed up for 6 months. The main outcome was defined as whether patients without OH at baseline would develop OH after 6 months. Logistic regression analysis was applied to identify the relevant variables. A nomogram was constructed based on clinical features and identified variables. The concordance index (C-index) and area under the receiver operating characteristic curve (AUC) were used to evaluate the accuracy and predictive ability of the nomogram, respectively. @*Results@#CPET results indicated that peak load, peak heart rate, heart rate recovery at 1 min, and systolic BP change (ΔSBP) were lower in those with OH than in the PD-nonOH group (p<0.05) at baseline. Logistic regression analysis indicated that peak load and ΔSBP during CPET had significant effects on OH (p<0.05). Age, sex, peak load, and ΔSBP were used to construct the nomogram model (C-index=0.761). The prediction model had an AUC of 0.782 (95% confidence interval=0.649–0.889) and a specificity and sensitivity of 70.0% and 81.8%, respectively. @*Conclusions@#This study has identified predictive factors for OH development in patients with PD. CPET could be used as a complementary examination to identify patients at a high risk of OH.

6.
Chinese Journal of Gastrointestinal Surgery ; (12): 307-311, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986790

RESUMO

Esophageal cancer is a malignant tumor with a high incidence in China. At pesent, advanced esophageal cancer patients are still frequently encountered. The primary treatment for resectable advanced esophageal cancer is surgery-based multimodality therapy, including preoperative neoadjuvant therapy, such as chemotherapy, chemoradiotherapy or chemotherapy plus immunotherapy, followed by radical esophagectomy with thoraco-abdominal two-field or cervico-thoraco-abdominal three-field lymphadenectomy via minimally invasive approach or thoracotomy. In addition, adjuvant chemotherapy, radiotherapy, or chemoradiotherapy, or immunotherapy may also be administered if suggested by postoperative pathological results. Although the treatment outcome of esophageal cancer has improved significantly in China, many clinical issues remain controversial. In this article, we summarize the current hotspots and important issues of esophageal cancer in China, including prevention and early diagnosis, treatment selection for early esophageal cancer, surgical approach selection, lymphadenectomy method, preoperative neoadjuvant therapy, postoperative adjuvant therapy, and nutritional support treatment.


Assuntos
Humanos , Neoplasias Esofágicas/cirurgia , Terapia Combinada , Terapia Neoadjuvante/métodos , Quimiorradioterapia , Quimioterapia Adjuvante , Esofagectomia/métodos
7.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 241-246, 2023.
Artigo em Chinês | WPRIM | ID: wpr-986022

RESUMO

Objective: To analyze the levels and distribution characteristics of blood cadmium and urinary cadmium in American adults, to analyze the relationship between blood cadmium and urinary cadmium and pulmonary function dose response, and to explore the effect of this index on the risk of chronic obstructive pulmonary disease. Methods: In March 2022, 3785 patients from 2007 to 2012 in NHANES database were selected as the subjects. Collect demography data such as gender and age, and test data such as lung function, blood cadmium concentration and Urine cadimium concentration. The relationship between blood and urine cadmium levels and lung function and pulmonary function and chronic obstructive pulmonary diease (COPD) was analyzed by Mann-Whitney U test or Kruskal-Wallis H test, multivariate linear regression and restricted cubic spline method. Results: The geometric mean of blood cadmium and urine cadmium in American adults was 0.37 g/L and 0.28 g/L, FEV(1) and FEV(1)/FVC among different cadmium exposure groups was statistically significant, and there was a negative linear dose-response relationship between serum Cd and urine Cd concentrations and FEV(1)/FVC levels (P(overall)<0.001, P(non-linear)=0.152; P(overall)<0.001, P(non-linear)=0.926). Compared with the lowest quartile concentration (Q1), the highest quartile blood cadmium concentration (Q4) (OR=1.934, P(trend)=0.000) and urinary cadmium concentration (OR=1.683, P(trend)=0.000) may increased the risk of chronic obstructive pulmonary disease. Conclusion: There is a negative correlation between blood cadmium, urinary cadmium levels and lung function in American adults, and cadmium may increase the risk of chronic obstructive pulmonary disease.


Assuntos
Adulto , Humanos , Cádmio , Inquéritos Nutricionais , Pulmão , Doença Pulmonar Obstrutiva Crônica , Testes de Função Respiratória
8.
China Pharmacy ; (12): 2278-2282, 2023.
Artigo em Chinês | WPRIM | ID: wpr-988791

RESUMO

OBJECTIVE To analyze the implementation of insulin centralized volume-based procurement policy (hereinafter referred to as “centralized procurement”) in our hospital and its effect on the use of insulin products in clinical. METHODS The manufacturer, specifications, usage, sales amount and agreed purchase volume of insulin products in our hospital before (July 4, 2021 to January 3, 2022) and after (July 4, 2022 to January 3, 2023) the centralized procurement were collected. The defined daily dose (DDD) method was used to calculate defined daily doses (DDDs), defined daily cost (DDC), the progress of procurement completion and actual cost saving. RESULTS After the centralized procurement, the number of insulin products had increased from 20 to 29 in our hospital; except for the Insulin degludec/aspart injection in our hospital’s original insulin catalog that had not been centrally purchased, all other existing varieties had been included in centralized procurement catalog. The use of Insulin aspart 30 injection produced by Novo Nordisk (China) Pharmaceutical Co., Ltd. always ranked the first place in the list of usage and DDDs before and after the centralized procurement. The sales amount of Insulin glargine injection produced by Ganli Pharmaceutical Co., Ltd. and Tonghua Dongbao Pharmaceutical Co., Ltd. increased significantly due to the significant increase in usage. The centralized procurement of Degu insulin injection from Novo Nordisk (China) Pharmaceutical Co., Ltd. had achieved a relatively high completion rate in our hospital’s original insulin catalog, while the completion rate for new varieties was low. After the centralized procurement, our hospital actually saved a total of 1 388 582.66 yuan in expenses. CONCLUSIONS After the centralized procurement, the selection and usage of insulin varieties in our hospital are reasonable, which saves patients’ insulin treatment costs, and reduces economic pressure on patients and society.

9.
Chinese Journal of Laboratory Medicine ; (12): 464-472, 2023.
Artigo em Chinês | WPRIM | ID: wpr-995752

RESUMO

Objective:To analyze the distribution of different SF3B1 genotypes in patients with myelodysplastic syndromes (MDS) and its prognostic value.Methods:Totally, 377MDS patients who were initially diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to January 2022 were included in the retrospective analysis.The patients were divided into three different groups according to mutation stcote of SF3B1, including 317 patients with SF3B1 wild type (SF3B1 WT) (214 males and 103 females, 63(49, 71) years old),39 patients with SF3B1 K700E mutation(SF3B1 K700E(17 males and 22 females, 65(52, 73)years old)) and 21 patients with SF3B1 non-K700E mutation(SF3B1 non-K700E)(13 males and 8 females, 67(63, 73) years old). MDS-related 20 gene mutations were detected using targeted sequencing technology; Survival curves were constructed by the Kaplan-Meier method; Cox proportional hazards model was established to evaluate different factors at diagnosis on survival by univariate and multivariate analyses.. Results:Compared with SF3B1 non-K700E patients, SF3B1 K700E patients had a higher median absolute neutrophil count ( P=0.002) and were likely to be in the low/int-1 International Prognostic Scoring System (IPSS) categories ( P=0.023). A 20-gene targeted sequencing analysis showed that, compared with SF3B1 WT patients, SF3B1 K700E patients were associated with lower frequency of ASXL1 and U2AF1 mutations ( P=0.018 and P=0.003); while compared with SF3B1 non-K700E patients, the frequency of ASXL1 mutation was significantly lower in SF3B1 K700E cases ( P=0.029). Patients with SF3B1 K700E had better overall survival (OS) in comparison with SF3B1 WT and SF3B1 non-K700E in MDS patients ( P<0.001 and P=0.045, respectively). In comparison with SF3B1 WT patients, SF3B1 MUT patients had more favorable OS and progression-free survival (PFS) in MDS without excess blasts ( P<0.001 and P<0.001, respectively), but no significant difference was found in MDS with excess blasts ( P>0.05). Compared with SF3B1 WT patients, SF3B1 K700E patients had superior OS and PFS in the int-1 IPSS category ( P=0.010 and P=0.013, respectively). By multivariable analysis, the presence of SF3B1 K700Ewas an independent predictor of superior OS ( HR=0.461,95% CI 0.262-0.811, P=0.007). Conclusion:SF3B1 K700E and SF3B1 non-K700E patients had significantly improved OS in comparison with SF3B1 WT MDS patients. Furthermore, SF3B1 K700E patients were associated with a better OS compared with SF3B1 non-K700E MDS patients. SF3B1 mutation could not overcome the poor prognostic effect of excess blasts, which highlights the importance of the SF3B1 mutation subtype in risk assessment of MDS without excess blasts.

10.
Chinese Journal of Dermatology ; (12): 353-356, 2023.
Artigo em Chinês | WPRIM | ID: wpr-994489

RESUMO

As a clinical compulsory course, dermatovenereology is characterized by various diseases, complex etiology, and distinct morphological characteristics, and its teaching during the probation period is faced with many challenges. Based on today′s rich educational resources on the internet, and combined with rich clinical resources in large hospitals, the traditional teacher-led lecturing during the probation period needs to be changed, and the adoption of inquiry-based defensive teaching mode has obvious advantages over the traditional teacher-led teaching mode. In the inquiry-based defensive teaching mode, clinical teachers design a series of clinical questions based on clinical topics, then introduce network teaching videos to students to change classroom teaching into students′ after-class learning, induce students to actively explore issues, encourage them to work together in groups to excavate clinical resources, make presentations and organize defense. This teaching mode turns the traditional teacher-led probationary class into a student-led and teacher-assisted speculative defense session, thereby improving learning efficiency and quality, and promoting the cultivation of students′ core literacy and comprehensive ability. Undergraduates are the main target group of this teaching mode, and this mode can also be adopted in the teaching of postgraduates and resident doctors in the standardized training program for the organization of teaching activities and optimization of assessment modes.

11.
Chinese Journal of Trauma ; (12): 394-403, 2023.
Artigo em Chinês | WPRIM | ID: wpr-992614

RESUMO

Hip fractures are among the most common fractures in the elderly, presenting to be a leading cause of disability and mortality. Surgical treatment is currently the main treatment method for hip fractures. The incidence of perioperative malnutrition is increased after hip fractures in the elderly due to the comorbidities, decreased basal metabolic rate, accelerated protein breakdown, weakened anabolism and surgical stress. However, malnutrition not only increases the incidence of postoperative complications, but also leads to increased mortality, indicating an important role of perioperative nursing management of nutrition for the elderly patients with hip fractures. At present, there still lacks scientific guidance and application standards on perioperative nursing management of nutrition for the elderly patients with hip fractures. Therefore, the Orthopedic Nursing Committee of Chinese Nursing Association and the Editorial Board of Chinese Journal of Trauma organized relevant experts to formulate the Expert consensus on perioperative nursing management of nutrition for elderly patients with hip fractures ( version 2023) according to evidence-based medical evidences and their clinical experiences. Fourteen recommendations were made from aspects of nutrition screening, nutrition assessment, nutrition diagnosis, nutrition intervention and nutrition monitoring to provide guidance for perioperative nursing management of nutrition in elderly patients with hip fractures.

12.
Chinese Journal of Endemiology ; (12): 314-319, 2023.
Artigo em Chinês | WPRIM | ID: wpr-991627

RESUMO

Objective:To analyze the individual iodine nutrition status and its influencing factors among students aged 8 to 15 in Dongtai City, Jiangsu Province.Methods:From May to August 2021, a total of 905 students aged 8 to 15 were selected as survey subjects in Dongtai City based on the sampling method in the "National Monitoring Plan for Iodine Deficiency Disorders" (2016 version). Salt samples from students' homes were collected for salt iodine testing. Urine samples of students were collected for urinary iodine and creatinine testing. The creatinine correction method was used to estimate individual 24 h urinary iodine excretion and calculate iodine intake. At the same time, basic information (age, gender, height, weight, etc.) and consumption frequency of iodine rich foods (seafood, eggs, meat, milk, solid snacks) of students were collected through questionnaires and actual measurements.Results:The coverage rate of iodized salt in Dongtai City was 98.2% (889/905), the qualified rate of iodized salt was 97.9% (870/889), and the consumption rate of qualified iodized salt was 96.1% (870/905). The median estimated 24 h urinary iodine excretion was 179.7 μg/d. The median estimated iodine intake was 195.4 μg/d, the constituent ratio of estimated iodine intake < recommended nutrient intake (RNI) was 16.2% (147/905), RNI-tolerable upper intake level (UL) was 63.4% (574/905), and > UL was 20.3% (184/905). The medians estimated 24 h urinary iodine excretion of students aged 8-10, 11-13 and 14-15 were 157.4, 193.0 and 236.5 μg/d, respectively, and the difference was statistically significant ( H = 55.42, P < 0.001). The median estimated 24 h urinary iodine excretion of boys was higher than that of girls (222.6 vs 148.6 μg/d), and the median estimated 24 h urinary iodine excretion of urban students was higher than that of township students (215.6 vs 162.7 μg/d), the differences were statistically significant ( Z = - 8.41, - 5.66, P < 0.001). There were statistically significant differences in the median estimated 24 h urinary iodine excretion between students with different body mass index (weight loss, overweight, obesity, normal; H = 56.15, P < 0.001) and iodine rich foods consumption frequencies (seafood, meat, milk, eggs, solid snacks; H = 23.15, 21.20, 60.77, 20.01, 24.47, P < 0.001). Conclusion:Iodine deficiency or excess exists in students aged 8-15 in Dongtai City, and girls aged 8-10 who are physically emaciated are the focus of attention for iodine deficiency.

13.
The Korean Journal of Internal Medicine ; : 493-506, 2023.
Artigo em Inglês | WPRIM | ID: wpr-977370

RESUMO

Background/Aims@#Tegoprazan, a novel potassium-competitive acid blocker, has shown rapid action and gastric acid inhibition. In this study, we evaluated the efficacy of a tegoprazan-based, nonbismuth-containing quadruple (concomitant) therapy for the primary eradication of Helicobacter pylori. @*Methods@#We conducted a prospective, single-arm, single-center, primitive study to verify the efficacy of a 10-day tegoprazan- based (50-mg dose) concomitant therapy, including amoxicillin (1,000-mg dose), clarithromycin (CLA; 500-mg dose), and metronidazole (MET; 500-mg dose) twice daily as a first-line treatment for H. pylori eradication. @*Results@#We tested consecutive cultures for antibiotic susceptibility and minimum inhibitory concentrations. We enrolled 84 participants; 79 (94.0%) completed first-line therapy. The overall intention-to-treat and per-protocol eradication rates were 90.5% (95% confidence interval [CI], 82.1−95.8) and 96.2% (95% CI, 83.4–97.6), respectively. Of the 73 participants evaluated for antibiotic resistance, 19 (26.0%), 32 (42.5%), and 8 (11.0%) exhibited CLA, MET, and CLA and MET dual resistance, respectively. Of these, 39 participants (66.1%) exhibited successful eradication after the therapeutic regimen despite antibiotic resistance. @*Conclusions@#The 10-day tegoprazan-based concomitant therapy may be an effective first-line treatment for eradicating H. pylori.

14.
Korean Journal of Aerospace and Environmental Medicine ; : 39-44, 2023.
Artigo em Inglês | WPRIM | ID: wpr-977365

RESUMO

Purpose@#Most aviation accidents are caused by human factors, and in recent years in Korea, human factors have been identified as the cause of 70% of aviation accidents.Human factors that influence pilots in the aviation field are closely linked to judgment ability and are crucial factors directly impacting flight proficiency. @*Methods@#To explore the human factors that may affect student pilots during flight training, a survey was conducted among flight instructors holding pilot certificates. @*Results@#The results aim not only to identify the human factors that can influence flight performance during training but also to establish a direction for safety by addressing the human factors related to student pilots, with the goal of maintaining safety. @*Conclusion@#Understanding the human factors that affect student pilots, who will be responsible for transporting hundreds of passengers in the future, is essential for cultivating safety knowledge and risk management skills, making it a highly important matter for accident prevention.

15.
Chinese Journal of Hematology ; (12): 930-935, 2023.
Artigo em Chinês | WPRIM | ID: wpr-1012259

RESUMO

Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BβAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BβSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BβAla98Asp and p.BβSer473* were pathogenic. Protein models demonstrated that the p.BβAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BβSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BβAla98Asp heterozygous missense mutation and the p.BβSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.


Assuntos
Humanos , Afibrinogenemia/genética , Códon sem Sentido , Linhagem , Fenótipo , Fibrinogênio/genética , Genótipo
16.
Chinese Journal of Endocrine Surgery ; (6): 579-583, 2022.
Artigo em Chinês | WPRIM | ID: wpr-954643

RESUMO

Objective:To observe the effect of different clinical factors on the level of parathyroid hormone (PTH) and to predict the possibility of permanent hypothyroidism (PHP) after total thyroidectomy (TT) by monitoring the levels of PTH in serum and drainage fluid after TT.Methods:Retrospective analysis was made on 150 patients who underwent TT for papillary thyroid carcinoma (PTC) in the Department of Thyroid Head and Neck Surgery in Jilin Cancer Hospital from Jan. 2020 to Aug. 2021. The changes of serum PTH were recorded at 1, 3, 7, 30 days and 6 months after surgery. The risk factors of postoperative hypoparathyroidism (HP) were investigated by single factor and multi factor methods. The impairment of parathyroid function was predicted combined with the level of PTH in the drainage fluid 1 day after operation.Results:After TT, serum PTH returned to normal value in most patients 1 month after operation. The proportion of PHP was 3.33% (5/150). Univariate analysis showed that bilateral central lymph node dissection, Hashimoto’s thyroiditis, tumor diameter ≥2 cm and intraoperative selective parathyroid autologous transplantation were risk factors for temporary hypoparathyroidism (THP). Multivariate analysis showed that BCND ( OR=0.322, P=0.001) , intraoperative selective parathyroid autograft ( OR=5.442, P=0.001) and tumor diameter ≥2 cm ( OR=2.247, P=0.003) were independent risk factors for THP. ROC curve was used to compare the predictive effect of postoperative serum and drainage PTH levels on postoperative PHP. The statistical results showed that the highest predictive effect of postoperative PHP was found on the first day of drainage PTH level within 1 week after operation (AUC 0.81) . 54 cases whose serum PTH was lower than normal value on the first day after operation were divided into 4 groups according to the level of PTH in drainage fluid from high to low. The results showed that the lower the level of PTH in drainage fluid, the greater the possibility of PHP ( P<0.05). Conclusions:Most of the patients with low PTH one month after operation develop PHP, while bilateral central lymph node dissection, intraoperative selective parathyroid transplantation, tumor diameter ≥2 cm are risk factors for THP after TT. If the serum PTH is lower than the normal value on the first day after operation, there is a possibility of PTH. The lower the PTH in the drainage fluid, the greater the possibility of PHP, which should be paid attention to in clinical practice.

17.
Chinese Journal of Endocrinology and Metabolism ; (12): 19-23, 2022.
Artigo em Chinês | WPRIM | ID: wpr-933363

RESUMO

Objective:To investigate the effects of persistent isolated hypothyroxinemia in the first and second trimester of pregnancy on complications and adverse outcomes of pregnancy.Methods:A retrospective analysis was conducted in 784 pregnant women including 111 cases of persistent isolated hypothyroxinemia in the first and second trimester of pregnancy and 673 pregnant women with normal thyroid function as control group. All women were registered and delivered in the Department of Obstetrics of our hospital from April 2016 to April 2017. The complications and adverse outcomes of pregnancy in the two groups were analyzed.Results:Age, body weight before pregnancy, body mass index(BMI), 1 h plasma glucose and 2 h plasma glucose during oral glucose tolerance test in persistent isolated hypothyroxinemia group were higher than those in control group( P<0.05), with increased incidence of anemia during pregnancy( P<0.05). However, there were no significant differences in the incidences of gestational diabetes mellitus and gestational hypertension between the two groups( P>0.05). No significant statistical differences were found in macrosomia, stillbirth, neonatal malformation, postpartum hemorrhage, acute delivery, premature delivery, fetal intrauterine development delay, and small full-term infants between the two groups( P>0.05). Logistic regression analysis showed that age( OR=1.1, 95% CI 1.0-1.1, P=0.002) and pre-pregnancy body weight( OR=1.0, 95% CI 1.0-1.1, P=0.046) were risk factors for the occurrence of persistent isolated hypothyroxinemia in the first and second trimesters of pregnancy. Persistent isolated hypothyroxinemia in the first and second trimesters was associated with anemia during pregnancy( OR=1.9, 95% CI 1.1-3.2, P=0.024). Conclusions:Pregnant women who are older and heavier before pregnancy should pay more attention to their thyroid function. Pregnant women with persistent isolated hypothyroxinemia in the first and second trimesters should be concerned for anemia.

18.
Chinese Journal of Health Management ; (6): 241-245, 2022.
Artigo em Chinês | WPRIM | ID: wpr-932968

RESUMO

Objective:To explore the application effect of the intelligent interactive health education model in the health management of the smokers with high-risk of chronic obstructive pulmonary disease (COPD).Methods:From September 2019 to January 2020, 72 smokers with high-risk of COPD were recruited from Health Management Center, the First Affiliated Hospital of Nanjing Medical Universit y. The subjects were randomly divided into traditional group (35 cases) and intelligent group (37 cases) according to the intervention model. The traditional group used the method of mailing health education materials, while the intelligent group sent health education materials with the help of mobile intelligent platform for interactive feedback and intervention. After 12 weeks of intervention, the subjects′ nicotine dependence, international physical activity, population satisfaction, time consumption for follow-up and other indicators were compared. Results:After the intervention, the score of nicotine dependence in the intelligent group was lower than that in the traditional group [(1.86±1.48) vs (3.77±1.66), P<0.05], the number of smoking cessation cases was more than that in the traditional group (11 vs 1, P<0.05), the number of cases with significant improvement in the score of international physical strength scale was significantly improved than that in the traditional group (15 vs 0, P<0.01), and the satisfaction was higher than that in the traditional group (97.30% vs 42.85%, P<0.01), and the time consumption was less than that in the traditional group [(18.03±2.96) vs (25.14±2.64) min, P<0.01]. Conclusion:The intelligent interactive health education model can improve the health education effect of the smokers with high risk of developing COPD, and improve the health behavior of the population.

19.
Chinese Journal of Hematology ; (12): 35-40, 2022.
Artigo em Chinês | WPRIM | ID: wpr-929527

RESUMO

Objective: To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. Methods: The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Results: The PC:A of the 12 probands decreased significantly, ranging from 18% to 55%, and the PC:Ag of the 10 probands decreased significantly. Eleven mutations were found, out of which four mutations [c.383G>A (p.Gly128Asp) , c.997G>A (p.Ala291Thr) , c.1318C>T (p.Arg398Cys) , and c.532G>C (p.Leu278Pro) ] were discovered for the first time. Six mutations were in the serine protease domain, four mutations were located in epidermal growth factor (EGF) -like domains, and one mutation was located in activation peptide. There were two deletion mutations (p.Met364Trp fsX15 and p.Lys192del) , and the rest were missense mutations. Mutations p.Phe181Val and p.Arg189Trp were identified in three unrelated families. All mutations may be inherited, and consanguineous marriages were reported in two families. Among the probands, nine cases had venous thrombosis, two cases had poor pregnancy manifestations, and one case had purpura. Conclusion: Patients with PC deficiency caused by PROC gene defects are prone to venous thrombosis, especially when there are other thrombotic factors present at the same time.


Assuntos
Humanos , Mutação , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Proteína C/genética , Deficiência de Proteína C/genética
20.
Chinese Pharmacological Bulletin ; (12): 650-654, 2022.
Artigo em Chinês | WPRIM | ID: wpr-1014202

RESUMO

Periostin (POSTN), an evolutionary conserved and secreted extracellular matrix protein, can be easily detected by humoral samples such as blood, urine, interstitial fluid etc., which was firstly found in bone tissues.POSTN is expressed in various tissues and its expression level is closely related to oc¬currence and development of various diseases, which will be a potential molecular marker in early diagnosis of diseases.'Hie paper systematically summarizes the relationship of the expres¬ sion level of POSTN and some diseases including myocardial in¬farction, vascular calcification, diseases related to bone metabo¬lism, chronic nephrosis and various cancers, and explores its function as well as mechanism, which provides scientific basis for the early diagnostic kits or new drug development of diseases based on POSTN.

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