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1.
Chinese Journal of Medical Science Research Management ; (4): 266-272, 2023.
Article in Chinese | WPRIM | ID: wpr-995867

ABSTRACT

Objective:To explore the innovation mode of independent transformation-oriented science and technology research program approval by medical new research & development (R&D) institution.Methods:Through analyzing the program layout, funds, review experts, undertaking units, chief experts and interdisciplinarity to summarize the experiences of the independent transformation-oriented municipal program approval by Haihe laboratory of Cell Ecosystem in 2022.Results:As a new medical R&D institution, which vigorously constructed by Tianjin, Haihe laboratory of Cell Ecosystem has carried out the practice of the independent transformation-oriented municipal program through the measures of layout of full-chain transformation, conducting transformation-oriented review, gathering high-level research talents, and emphasizing interdisciplinarity.Conclusions:The experiences of Haihe laboratory of Cell Ecosystem make significance for medical new R&D institutions to explore and cultivate scientific research program with transformation potential and to promote the transformation of scientific and technological achievements, which are powerful factors for new R&D institutions to play a role of pilot and provide important support to scientific and technological innovation and transformation.

2.
Chinese Journal of Laboratory Medicine ; (12): 483-492, 2023.
Article in Chinese | WPRIM | ID: wpr-995754

ABSTRACT

Objective:To analyze the clinical and laboratory characteristics of acute myeloid leukemia (AML) patients with NPM1 mutation, and to explore the prognostic factors.Methods:A total of 77 AML patients with NPM1 gene mutation admitted to Hebei Yanda Ludaopei Hospital from May 1st 2012 to December 31st 2021 were enrolled in the study, including 34 male and 43 female patients. The median age was 40 (3, 68) years old. Patients were selected and divided into 4 groups according to the morphological FAB classification. There were 29 cases (37.7%) of M1 type, 13 cases (16.9%) of M2 type, 23 cases (29.9%) of M4 type, and 12 cases (15.5%) of M5 type. The clinical characteristics, bone marrow/peripheral blood cell morphology, immunophenotype, cytogenetics, molecular biology and overall survival of different groups were retrospectively analyzed, and the risk factors affecting the prognosis of AML were also explored. Cox multivariate regression was used to analyze the clinical influencing factors of survival and prognosis.Results:The white blood cell counts were highest in M4 and M5 patients and lowest in M2 patients, while no significant difference in the red blood cell, hemoglobin, and platelet counts( P>0.05). Morphologically, there were significant differences in the percentage of blasts and blasts with cup-like nuclei on bone marrow (BM) and peripheral blood (PB). The proportion of blasts in BM and PB was the highest in M1 and the lowest in M2 ( P<0.001). The positive rate of blasts with cup-like nuclei was the highest in M1 and the lowest in M5 of BM ( P<0.001), while the highest in M2 and the lowest in M5 of PB ( P=0.006). The scores of myeloperoxidase and chloroacetate esterase were all the highest in M1 and the lowest in M5 ( P<0.001, 0.001, respectively). In terms of molecular biology, the occurence rate of blasts combined with DNMT3A mutation was the highest in M4 and the lowest in M2 ( P=0.044), while those combined with FLT3-ITD mutation was the highest in M4 and the lowest in M5 ( P=0.002). In immunophenotype, there were significant differences in the expression positivities of seven antigens including HLA-DR, CD56, CD11c, CD15, CD14, CD96 and cMPO ( P<0.05). Multivariate COX regression analysis showed that no recurrence after treatment ( P<0.001), complete remission after treatment ( P=0.015) and transplantation ( P<0.001) were correlated with overall survival (OS). No recurrence after treatment ( P=0.033), transplantation ( P=0.027), no mutation of FLT3-ITD ( P=0.040), and hemoglobin concentration ( P=0.023) were associated with relapse-free survival (RFS). Survival analysis by Kaplan-Meier curve showed that there was no significant difference in survival time between the M1, M2, M4 and M5 groups in OS and RFS. Conclusion:There were significant differences in the white blood count, the percentage of blasts and blasts with cup-like nuclear morphology, cytochemical staining (MPO integration, CE integration and percentage of NAS-DCE), gene mutation (DNMT3A and FLT3-ITD) and immunophenotypes (HLA-DR, CD56, CD11c, CD15, CD14, CD96 and cMPO) between the four groups. The multivariate analysis revealed that no recurrence after treatment and transplantation were independent prognostic factors in NPM1 mut AML patients. On the other hand, FLT3-ITD mutation and hemoglobin concentration were associated with RFS and complete remission after treatment was associated with OS in the entire NPM1 mut cohort.

3.
Clinical Medicine of China ; (12): 237-240, 2023.
Article in Chinese | WPRIM | ID: wpr-992496

ABSTRACT

Infertility is gradually becoming a major problem affecting health worldwide, and male factors also play an important role in infertility. Extracellular vesicles (EVs) are ultramicro membranous vesicles released by cells during activation or apoptosis, which play an important role in cell communication. Relevant studies have shown that extracellular vesicles contain a variety of bioactive substances and participate in infertility related pathophysiological processes by influencing the content of intercellular transmission. Therefore, we reviewed the relationship between extracellular vesicles and male infertility, and expounded the occurrence and potential treatment of male infertility from another perspective.

4.
Chinese Journal of Emergency Medicine ; (12): 1097-1101, 2022.
Article in Chinese | WPRIM | ID: wpr-954534

ABSTRACT

Objective:To investigate the significant effects of enhanced whole-body computed tomography (EWBCT) and non-enhanced whole-body computed tomography (N-EWBCT) on the missed diagnosis rate, renal function and prognosis of patients with severe trauma.Methods:Clinical data of trauma patients admitted from January 1, 2017 to December 31, 2020 were collected from the trauma database of the Trauma Center of the Second Affiliated Hospital of Soochow University. All patients included in this study were divided into the EWBCT group and N-EWBCT group according to whether they underwent enhanced whole-body computed tomography examination. The differences in baseline data, missed diagnosis rate, renal function and prognosis of the two groups of patients were compared.Results:A total of 459 patients were included in this study, including 184 patients in the EWBCT group and 275 patients in the N-EWBCT group. The missed diagnosis rate of the N-EWBCT group was significantly higher than that of the EWBCT group (18% vs. 5%, P < 0.01). The risk ratio of acute kidney injury (AKI) in the EWBCT group and N-EWBCT group was 9% and 7%, respectively, and there was no statistical difference between the two groups ( P >0.05). The mortality rate of patients in the N-EWBCT group was higher than that in the EWBCT group (23% vs. 12%, P=0.002). Conclusions:Compared with N-EWBCT, EWBCT does not significantly increase the risk of renal damage in patients with severe trauma. For patients with severe trauma, early EWBCT can reduce the missed diagnosis rate and improve the clinical prognosis.

5.
Chinese Journal of Internal Medicine ; (12): 565-569, 2022.
Article in Chinese | WPRIM | ID: wpr-933471

ABSTRACT

To study the clinical features of myeloperoxidase(MPO) antineutrophil cytoplasmic antibody (ANCA) associated hypertrophic pachymeningitis (HP). Clinical data of 15 cases diagnosed with MPO-ANCA vasculitis complicated with HP were retrospectively analyzed. Nine cases were males and the other 6 were females, with an average age of (58±8) years. All cases presented with chronic headache. Contrast-enhanced magnetic resonance imaging (MRI) scan showed local or diffused thickening of cerebral and/or spinal dura matter while brain parenchyma were normal. Nine cases developed multiple cranial nerve paralysis, with trigeminal nerve and auditory nerve involved most commonly. The main clinical manifestations were facial pain, hearing loss and tinnitus. Two cases were complicated with hypertrophic spinal pachymeningitis (HSP) and 4 cases were complicated with pulmonary diseases. Positive serum perinuclear pattern ANCA (pANCA) and MPO could be found in all cases, positive serum IgG 4 was seen in two patients. erythrocyte sedimentation rate(ESR;25-116 mm/1h) and C-reactive protein (CRP;29.02-146.00 mg/L) were both elevated in 14 cases. Nine cases had elevated intracranial pressure[180-235 mmH 2O (1 mmH 2O=0.009 8 kPa)] and abnormal protein level (457.6-3710.0 mg/L) in cerebrospinal fluid. Six cases were treated with glucocorticoids (prednisone 20-60 mg/d) and 9 cased with glucocorticoids and immunosuppressants (methotrexate 15 mg/week or cyclophosphamide 100 mg/d po). All patients achieved remission. MPO-ANCA associated HP is a special type of central nervous system involvement in ANCA associated vasculitis (AAV). It rarely involves the lung or kidney. Steroids and immunosuppressive agents are effective. In HP with unknown underlying diseases, it is suggested to screen ANCA and IgG 4 tests for AAV or IgG 4-related disease.

6.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 397-400, 2022.
Article in Chinese | WPRIM | ID: wpr-923392

ABSTRACT

@#Anterior mediastinal inflammatory myofibroblastoma is a rare tumor with insidious onset and easy misdiagnosis. In this report, we presented a case of anterior mediastinal inflammatory myofibroblastoma with thymoma. The mediastinal tumor was found by physical examination, and the prognosis was good after surgical treatment. For this disease, operation is an effective method for definite diagnosis and treatment, and complete excision can achieve good outcomes.

7.
Chinese Journal of Nephrology ; (12): 577-582, 2022.
Article in Chinese | WPRIM | ID: wpr-958059

ABSTRACT

Objective:To explore the effectiveness and complications of non-incision removal of tunneled cuffed catheter (TCC).Methods:The clinical characteristics, surgical plans and complications of patients with TCC removal in the Renal Division of Peking University First Hospital from January 1, 2015 to December 31, 2020 were collected and analyzed retrospectively. The patients were divided into non-incision removal group and traditional incision removal group. The clinical characteristics, procedure success rate, procedural duration and complications were compared between the two groups.Results:A total of 349 patients were included in this study, for whom 368 catheter removal procedures were performed, including 286 procedures in the non-incision removal group, 75 procedures in the traditional incision removal group, and 7 procedures without records of surgical plans. There was no significant difference in age, sex, basic kidney diseases and catheter remaining time and location between the two groups (all P>0.05). Two procedures in the non-incision removal group and 1 procedure in the traditional incision removal group failed respectively, and there was no significant difference in the procedure success rate between the two groups (99.3% vs 98.7%, χ2=0.290, P=0.590). The procedural duration in the non-incision removal group was lower than that in the traditional incision removal group [(5.36±1.70) min vs (17.55±3.28) min, t=44.198, P<0.001]. Among the patients who needed TCC exchange, there was no significant difference in the selection of new catheter position between the two groups ( P=0.330). In terms of complications, there were 2 procedures of local hematoma in the non-incision removal group and 1 procedure of infection in the traditional incision removal group, and there was no severe complication in both groups. Conclusions:There was no significant difference in the procedural success rate and complications between non-incision removal group and traditional incision removal group, and non-incision procedure may be superior in reducing the procedure duration and harm less to the patients. Non-incision procedure is a safe and effective method to remove TCC.

8.
Neuroscience Bulletin ; (6): 81-93, 2021.
Article in Chinese | WPRIM | ID: wpr-952022

ABSTRACT

Stress might exaggerate the compulsion and impair the working memory of patients with obsessive-compulsive disorder (OCD). This study evaluated the effect of stress on the cognitive neural processing of working memory in OCD and its clinical significance using a “number calculation working memory” task. Thirty-eight patients and 55 gender- and education-matched healthy controls were examined. Stress impaired the performance of the manipulation task in patients. Healthy controls showed less engagement of the medial prefrontal cortex and striatum during the task under stress versus less stress, which was absent in the patients with OCD. The diagnosis × stress interaction effect was significant in the right fusiform, supplementary motor area, precentral cortex and caudate. The failure of suppression of the medial prefrontal cortex and striatum and stress-related hyperactivation in the right fusiform, supplementary motor area, precentral cortex, and caudate might be an OCD-related psychopathological and neural response to stress.

9.
Chinese Journal of Perinatal Medicine ; (12): 922-926, 2021.
Article in Chinese | WPRIM | ID: wpr-911993

ABSTRACT

Objective:To investigate the risk factors and establish a risk scoring system for bronchopulmonary dysplasia (BPD) in very and extremely preterm infants.Methods:From December 2013 to December 2018, 254 very and extremely preterm infants with less than 32 weeks of gestation hospitalized for 28 d and above in the Third Staff Hospital of Baotou Steel Group were retrospectively enrolled. According to the diagnostic criteria of BPD, they were divided into the BPD group ( n=129) or the non-BPD group ( n=125). Clinical data and the risk factors for BPD were analyzed with univariate t-test, Chi-square test, rank-sum test, and multivariate logistic regression analysis. Based on the results, the risk scoring system was evaluated by receiver operating characteristic (ROC) curve, sensitivity, and specificity. Results:Logistic regression analysis showed that gestational age, neonatal respiratory distress syndrome (NRDS), ventilator-associated pneumonia (VAP), and duration of ventilation >7 d were the risk factors for BPD (all P<0.05). When the area under the ROC curve was 0.868 (95% CI: 0.823-0.913, P<0.001) and the maximum Youden index was 0.644, the sensitivity of the scoring systems for BPD was 0.884 (95% CI: 0.812-0.931), and the specificity was 0.760 (95% CI: 0.674-0.830). Conclusions:Gestational age, NRDS, VAP, and prolonged duration of ventilation were the risk factors for BPD. The risk scoring system established has the prediction value on BPD in very and extremely preterm infants.

10.
Chinese Journal of Nephrology ; (12): 474-480, 2021.
Article in Chinese | WPRIM | ID: wpr-911876

ABSTRACT

Objective:To provide clinical experience for the diagnosis and treatment of spontaneous renal hemorrhage through retrospective analysis of clinical features, imaging manifestations, underlying causes, treatment , and prognosis of spontaneous renal hemorrhage. Methods:By searching hospital information system, medical records scanning system, department of the interventional vascular surgery registry system, and picture archiving and communication systems, the patients with spontaneous renal hemorrhage admitted to Peking University First Hospital between January 1, 2000 to April 10, 2020 were enrolled. The clinical manifestations, investigations, imaging features, treatment, and prognosis of patients were retrospectively reviewed. The diagnostic efficiency and the accuracy of etiological diagnosis of renal hemorrhage by imaging examinations such as ultrasound, computed tomography (CT), magnetic resonance imaging (MRI), and angiography were compared and evaluated.Results:A total of 50 patients with 51 events of spontaneous renal hemorrhage were enrolled in the study. Laboratory tests showed hemoglobin was (103.3±29.4) g/L. The most common clinical features were flank or abdominal pain (48 cases, 96.0%), fever (17 cases, 34.0%), nausea (10 cases, 20.0%), vomiting (9 cases, 18.0%), and gross hematuria (4 cases, 8.0%). Nine patients (18.0%) experienced hypovolemic shock (systolic pressure<90 mmHg). With an initial assessment of the imaging method, the diagnostic accuracy of bleeding was 98.0%(49/50), yet the accuracy of underlying causes was 56.0%(28/50). The diagnostic accuracy of bleeding was 100.0%(25/25) by non-contrast abdominopelvic CT. The most common cause of spontaneous renal hemorrhage syndrome was renal tumors (27 cases, 54.0%), among which angiomyolipoma occurred most frequently (20 cases, 40.0%). Other causes included renal cyst (10 cases, 20.0%), autoimmune diseases (4 cases, 8.0%), bleeding diathesis (3 cases, 6.0%), and idiopathic renal hemorrhage (6 cases, 12.0%). Twelve patients (24.0%) received conservative management, 29 patients (58.0%) underwent interventional embolization therapy, and 11 patients (22.0%) received nephrectomy. The success rate on first embolization therapy was 86.2%(25/29), and approximately 13.8%(4/29) required second embolization therapy or nephrectomy.Conclusions:Spontaneous renal hemorrhage has no specific clinical features and is easy to be underdiagnosed or misdiagnosed. Non-contrast CT scan has a high diagnostic value for renal bleeding. Comprehensive judgement consisting of clinical features, laboratory tests, imaging manifestations and pathological examinations should be relied on for finding the underlying causes. Prompt diagnosis and management can guarantee a better prognosis.

11.
Chinese Journal of Dermatology ; (12): 1001-1004, 2021.
Article in Chinese | WPRIM | ID: wpr-911562

ABSTRACT

Objective:To deliver understanding of the latest research progress on clinical trials and approval of dermatological drugs in China in 2020.Methods:A registration and information disclosure platform for drug clinical studies and a query system for domestic and imported drugs in the National Medical Products Administration of China were searched for registered clinical trials and approved dermatological drugs, respectively. The number and stages of clinical trials, indications and classification of involved products, and listed dermatological drugs in 2020 were summarized and depicted.Results:There were 157 dermatological drug trials registered in China in 2020, accounting for 6.16% of all the 2 548 clinical drug trials, including 127 (80.9%) initiated by Chinese pharmaceutical enterprises and 25 (15.9%) international multicenter trials. Among the 127 drug trials initiated by Chinese pharmaceutical enterprises, bioequivalence trials were mostly common, accounting for 55.9% (71/127) . Compared with global pharmaceutical enterprises, domestic pharmaceutical companies initiated significantly decreased proportions of international multicenter trials (1.9% [3/157] vs. 14.0% [22/157], P < 0.001) , but significantly increased proportions of phaseⅠclinical trials and bioequivalence trials (24.4% [31/127] vs. 10.0% [3/30], 55.9% [71/127] vs. 0, respectively, both P < 0.001) . Totally, 90 kinds of dermatological drug were involved in all the trials, psoriasis, atopic dermatitis and melanoma were the most common indications, and innovative drugs accounted for 53.3% (48/90) ; the proportion of innovative drugs was significantly lower in domestic pharmaceutical companies than in global pharmaceutical companies (43.2% [32/74] vs. 16/16, P < 0.001) . In addition, 28 dermatological drugs developed by 22 pharmaceutical companies were approved in China in 2020, of which 21 drugs were developed by domestic pharmaceutical companies. Conclusion:Clinical drug trials carried out by domestic pharmaceutical companies mostly focus on generic drugs, and it is still necessary for domestic pharmaceutical companies to further improve the innovation ability.

12.
Chinese Critical Care Medicine ; (12): 1094-1098, 2021.
Article in Chinese | WPRIM | ID: wpr-909459

ABSTRACT

Objective:To observe the changes of regional saturation of cerebral oxygenation (rScO 2) and blood neuron specific enolase (NSE) in patients after cardiopulmonary resuscitation (CPR), and to explore its value in evaluating the prognosis of patients' neurological function. Methods:From January 2012 to December 2020, 97 patients with return of spontaneous circulation (ROSC) after cardiac arrest (CA) treated in the intensive care unit (ICU) of the Second Affiliated Hospital of Soochow University were selected. According to the prognosis, the patients were divided into two groups: good neurological function group [Glasgow-Pittsburgh Cerebral Performance Categories (CPC) 1-2, 20 cases] and neurological dysfunction group (CPC classification 3-5, 77 cases). The clinical data of gender, age, the number of patients with defibrillable rhythm, time of ROSC, the number of CA patients outside the hospital, acute physiology and chronic health evaluationⅡ(APACHEⅡ), Glasgow coma scale (GCS), global non-response scale (FOUR), body temperature, mean arterial pressure (MAP), blood lactic acid (Lac) and GCS at discharge, as well as the length of ICU stay, rScO 2 and blood NSE were collected. The differences of rScO 2 and NSE between the two groups were compared; and the receiver operator characteristic curve (ROC curve) was drawn to evaluate the value of rScO 2 and NSE alone or in combination in predicting the prognosis of patients with ROSC after CA. Results:The rScO 2 of good neurological function group was significantly higher than that of neurological dysfunction group at 1, 3, 6, 12, 24 and 48 hours (all P < 0.05). At 24 hours after admission, the rScO 2 on the left and right sides of good neurological function group was significantly higher than that in neurological dysfunction group [left: 0.65 (0.59, 0.76) vs. 0.55 (0.44, 0.67), right: 0.62 (0.61, 0.73) vs. 0.50 (0.30, 0.69), both P < 0.05], and NSE was significantly lower than that in the neurological dysfunction group [ng/L: 21.42 (15.38, 29.69) vs. 45.82 (24.05, 291.26), P < 0.05]. ROC curve analysis showed that both rScO 2 and NSE alone and combined detection had a certain value in predicting the prognosis of neurological function in patients with ROSC after CA, and the area under the ROC curve (AUC) detected by the combination was the largest, which was higher than the AUC predicted by rScO 2 or NSE (0.904 vs. 0.884, 0.792). When the cut-off value of combination was 0.83, the sensitivity and specificity were 75.7% and 100% respectively. Conclusion:Monitoring rScO 2 and NSE can predict the prognosis of neurological function after CPR, especially the combined evaluation of the two indexes, which can greatly improve the accuracy of diagnosis.

13.
International Journal of Cerebrovascular Diseases ; (12): 594-601, 2021.
Article in Chinese | WPRIM | ID: wpr-907369

ABSTRACT

Objective:To investigate the correlation between the imaging markers of cerebral small vessel disease (CSVD) and early hematoma expansion (HE) in patients with spontaneous intracerebral hemorrhage (sICH).Methods:Patients with sICH admitted to the Department of Neurology, the Affiliated Hospital of Qingdao University between January 1, 2015 and December 31, 2019 were enrolled retrospectively. All patients received noncontrast CT (NCCT) within 6 h after onset. Within 24 h after the initial NCCT examination, they were reexamed to determine whether HE occurred, and brain MRI examination was completed within 48 h after onset. HE was defined as the increase of hematoma volume on NCCT reexamination by >33% or >6 ml compared with the baseline. NCCT was used to evaluate the abnormal morphology and density signs, including blend sign, swirl sign, black hole sign, island sign, and satellite sign. MRI was used to evaluate CSVD imaging markers, including lacunar infarcts (LIs), enlarged perivascular space (EPVS), white matter hyperintensities (WMHs), cerebral microbleeds (CMBs), and cortical superficial siderosis (CSS). Multivariate logistic regression analysis was used to determine independent risk factors for HE. The receiver operator characteristic (ROC) curve was used to evaluate the predictive ability of imaging markers for HE in patients with sICH. Results:A total of 216 patients with sICH were included. Their age was 57±15 years, 113 (61.6%) were male, 88 (40.7%) had HE, 123 (56.9%) had NCCT signs, 122 (56.5%) had CMBs, 143 (66.2%) had WMHs, 44 (20.4%) had CSS, 25 (11.6%) had LIs, and 31 (14.4%) had EPVS. The baseline hematoma volume, blood calcium, the modified Rankin Scale score and the National Institutes of Health Stroke Scale score at admission, and detection rates of NCCT signs, CMBs, WMHs and CSS in the HE group were significantly higher than those in the non-HE group (all P<0.05). Multivariate logistic regression analysis showed that the blood calcium (odds ratio [ OR] 0.040, 95% confidence interval [ CI] 0.004-0.238; P=0.001), any NCCT signs ( OR 3.275, 95% CI 1.492-7.188; P=0.003), CMBs grade 4 ( OR 3.591, 95% CI 1.146-11.250; P=0.028), CSS ( OR 3.008, 95% CI 1.214-7.452; P=0.017), NCCT signs+ CMBs grade 3 ( OR 3.390, 95% CI 1.035-11.102; P=0.044), NCCT signs+ CMBs grade 4 ( OR 5.473, 95% CI 1.352-22.161; P=0.017), and NCCT signs+ CSS ( OR 3.544, 95% CI 1.215-10.336; P=0.021) were the independent risk factors for HE in patients with sICH. ROC curve analysis showed that the sensitivity of NCCT signs, CMBs and CSS for predicting HE were 81.8%, 64.8% and 34.1%, respectively, and the specificity were 60.2%, 60.9% and 89.1%, respectively. The predictive sensitivity of NCCT signs+ CMBs and NCCT signs+ CSS (59.1% and 30.7%, respectively) was lower than that of single imaging marker, while the specificity (78.1% and 93.7%, respectively) was higher than that of single imaging marker. Conclusions:The imaging markers of CSVD are closely associated with the risk of HE in patients with sICH. Severe CMBs and CSS are the independent risk factors for HE in patients with sICH. The specificity of NCCT signs combined with CSVD imaging markers for predicting HE is increased but the sensitivity decreased.

14.
Chinese Journal of Nephrology ; (12): 161-167, 2021.
Article in Chinese | WPRIM | ID: wpr-885490

ABSTRACT

Objective:To define more information for familial hematuria by genetic screening in a pedigree with familial hematuria.Methods:This was a 4 generation pedigree included 20 family members. The clinical data and laboratory manifestations of the family members were reviewed and collected from medical records. Meanwhile, the peripheral blood samples of 11 family members of the pedigree were collected, and then DNA samples were extracted by salting out method for genetic analysis. For genetic analysis, firstly, three family members including the proband were selected for whole exome sequencing, and the genetic variations were screened according to the sequence variation interpretation guidelines from the American College of Medical Genetics and Genomics (ACMG) for diagnostic sequence interpretation. Then PCR and Sanger sequencing were used to verify the identified pathogenic variants in all family members in the pedigree.Results:In the pedigree, 6 female members had persistent hematuria. Among them, 2 died due to end-stage renal disease, 2 died due to non-renal diseases, and 2 maintained stable renal function. One of the two members with stable renal function was diagnosed as IgA nephropathy by renal biopsy. Moreover, diffuse basement membrane lesions were identified in her renal biopsy sample after the electron microscope examination, which resulted in the suspected diagnosis of Alport syndrome. Genetic testing in this pedigree revealed two novel mutations in COL4A4 gene (NM_000092), c.G446T:p.G149V in exon 7 and c.G1249A:p.G417R in exon 20. Conclusion:Two novel mutations of COL4A4 gene (c.G446T:p.G149V in exon 7 and c.G1249A:p.G417R in exon 20) in a hematuria pedigree are related with phenotype of familial hematuria.

15.
Chinese Journal of Internal Medicine ; (12): 544-551, 2021.
Article in Chinese | WPRIM | ID: wpr-885170

ABSTRACT

Objective:To explore the efficacy and safety of ticagrelor versus clopidogrel in acute coronary syndrome (ACS) Chinese patients using glycoprotein Ⅱb/Ⅲa inhibitor (GPI).Methods:The data from CCC-ACS (Improving Care for Cardiovascular Disease in China-ACS) project were systematically reviewed in ACS patients with GPI. The patients were divided into ticagrelor and clopidogrel groups. A logistic analysis and propensity score matching (PSM) were performed to compare occurrences of major cardiovascular events (MACE) and bleeding events between the two groups during hospitalization.Results:A total of 63 641 ACS patients were collected from 150 hospitals. Logistic regression analyses showed that there was no statistically significant difference in the reduction of MACE between ticagrelor and clopidogrel when using GPI ( OR=0.881, 95% CI 0.599-1.296; P=0.521). However, major bleeding rate was higher in the ticagrelor group than that in the clopidogrel group ( OR=1.401, 95% CI 1.075-1.852; P=0.013). Similar results were observed after PSM. No statistic difference in MACE between the ticagrelor and clopidogrel group ( OR=0.919, 95% CI 0.613-1.376; P=0.681). Major bleeding rate was higher in the ticagrelor group ( OR=1.559, 95% CI 1.130-2.150; P=0.007). Conclusion:In ACS patients with GPI, ticagrelor did not reduce MACE, but increased the major bleeding risk compared with clopidogrel.

16.
Chinese Journal of Orthopaedic Trauma ; (12): 443-447, 2021.
Article in Chinese | WPRIM | ID: wpr-884278

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Objective:To compare the therapeutic outcomes between use of antibiotic cement versus non-use of antibiotic cement in the treatment of tibial osteomyelitis after radical debridement.Methods:A retrospective analysis was made of the 68 patients with local tibial osteomyelitis of Cierny-Mader Type Ⅳ who had been treated at Department of Orthopaedic Trauma, The Second People’s Hospital of Shenzhen from January 2010 to June 2015. The dead space was filled with antibiotic-impregnated bone cement beans after radical debridement of the infected bone in 32 of them (cement group) but was not in 36 of them (no-cement group). The operations for both groups were performed by the same surgical team who filled the bone defects after excision of infected bone using Ilizarov bone transport. The 2 groups were compared in terms of Paley functional scores of bone and limb, external fixation index (EFI), infection recurrence rate, total hospital costs and other complications.Results:The 2 groups were comparable because there was no significant difference between them in the preoperative general data ( P>0.05). The cement group was followed up for (71.2±8.9) months and the no-cement group for (71.6±9.7) months, showing no significant difference ( P>0.05). By the Paley functional scores, the good to excellent rate for bone was 100% for both groups (32/32 versus 36/36) while the good to excellent rate for limb was 93.8% (30/32) for the cement group and 94.4% (34/36) for the no-cement group, showing no significant differences between them ( P>0.05). The EFI was (49.0±10.5) d/cm for the cement group and (49.5±11.4) d/cm for the no-cement group, showing no significant differences between them ( P>0.05). The infection recurrence rate at the final follow-up was 3.12% (1/32) for the cement group and 2.78% (1/36) for the no-cement group, showing no significant differences between them ( P>0.05). The total hospital cost was (70,944.1 ± 1,135.5) Yuan RMB for the cement group and (55,205.2 ± 897.3) Yuan RMB for the no-cement group, showing a significant difference ( P<0.05). No serious complications with sequelae were found in either of the 2 groups. Conclusion:In the treatment of local tibial osteomyelitis of Cierny-Mader Type Ⅳ, it is not necessary to fill the dead space with antibiotic cement when radical debridement is achieved.

17.
Chinese Journal of Trauma ; (12): 720-725, 2020.
Article in Chinese | WPRIM | ID: wpr-867771

ABSTRACT

Objective:To Analyze the risk factors and prognosis of patients with hyperfibrinolysis after severe trauma.Methods:A prospective case-control study was conducted to analyze the clinical data of severe trauma patients whose injury severity score (ISS)≥16 points admitted to First People's Hospital of Taicang from October 2017 to December 2018. Blood clot dissolution rate parameter (LY30) ≥3% was diagnosed as hyperfibrinolysis. The patients were divided into hyperfibrinolysis group ( n=27) and non-hyperfibrinolysis group ( n=27). Data were collected including patients' general information, hemoglobin (Hb), hematocrit (Hct), platelet count (PLT), fibrinogen (Fg), lactic acid value and thrombelastograghy (TEG). Univariate and multivariate Logistic regression analysis were used to identify risk factors of hyperfibrinolysis after severe trauma. Prognostic indicators and K-M survival curve of the patients were analyzed. Results:(1) A total of 142 patients with severe trauma were enrolled. There were 101 males and 41 females, aged 45-65 years (mean, 56 years). The incidence of hyperfibrinolysis was 14.8%. (2) Univariate analysis showed that ISS, abbreviated injury scale (AIS) ratio of pelvic limbs ≥3 points, shock index (SI) ratio >1, temperature, PLT, Fg and lactic acid value were correlated with the occurrence of hyperfibrinolysis after severe trauma ( P<0.05). (3) Multivariate Logistic regression analysis showed that PLT ( OR=1.035), ISS ( OR=0.898) and lactate acid value ( OR=0.735) were independent risk factors for hyperfibrinolysis after severe trauma ( P<0.05 or 0.01). (4) Hyperfibrinolysis group required more massive transfusion (38.1% vs. 2.5%), were more prone to multiple organ dysfunction syndrome (MODS) (90.5% vs. 48.8%), and had a higher 24-hour mortality (47.6% vs. 8.3%), when compared with non-hyperfibrinolysis group ( P<0.01). K-M survival curve indicated that the median survival time in hyperfibrinolysis group after trauma was 1.33 days ( IQR, 0.40-17.20 days). Conclusions:The incidence of hyperfibrinolysis after severe trauma is low. ISS, PLT and lactic acid value are the independent risk factors for hyperfibrinolysis after severe trauma. Patients with severe post-traumatic hyperfibrinolysis are characterized by high probabilities of massive transfusion and MODS, short survival time and high early mortality.

18.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 1172-1176, 2020.
Article in Chinese | WPRIM | ID: wpr-829267

ABSTRACT

@#Objective    To investigate the safety and feasibility of thoracoscopic surgery of anterior mediastinal tumors via subxiphoid approach under scissors position (SASP) and lateral thoracic approach under lateral position (LALP). Methods    Clinical data of 69 patients who received anterior mediastinal tumor excision surgery in our hospital from June 2016 to November 2019 were retrospectively analyzed, including 32 males and 37 females with an average age of 46.38±11.52 years. The clinical effects of the two groups were compared. Results    There was no perioperative death or conversion to thoracotomy. There was no statistically significant difference between the two groups in the operative time (123.34±12.64 min vs. 125.05±17.02 min, P=0.642), intraoperative blood loss [50.00 (73.75) mL vs. 50.00 (80.00) mL, P=0.643], tumor diameter (2.75±0.57 cm vs. 2.89±0.45 cm, P=0.787) and total hospital expenses [32.70 (5.30) thousand yuan vs. 32.90 (4.80) thousand yuan, P=0.923]. However, the postoperative catheterization time [2.00 (1.00) d vs. 4.00 (1.50) d, P=0.000], postoperative drainage [260.00 (200.00) mL vs. 400.00 (225.00) mL, P=0.031], postoperative pain index [2.00 (1.00) points vs. 4.00 (2.00) points, P=0.000], postoperative analgesic time [1.50 (1.00) d vs. 3.00 (2.00) d, P=0.000], postoperative fever time [1.50 (1.00) d vs. 2.00 (1.00) d, P=0.000] in the SASP group were better than those in the LALP group. Conclusion    Thoracoscopic surgery via SASP is more suitable for the treatment of anterior mediastinal tumor with rapid postoperative recovery and reduced pain, and the postoperative curative effect is definite. However, there is a high requirement for the surgical experience and techniques. It can be promoted in the clinic.

19.
Chinese Journal of Thoracic and Cardiovascular Surgery ; (12): 690-693, 2020.
Article in Chinese | WPRIM | ID: wpr-871683

ABSTRACT

Objective:By comparing the clinical outcome of the modified triple tube method and the traditional three-tube method in the treatment of thoracic internal fistula after esophageal cancer surgery, in order to provide a basis for the clinical treatment of thoracic fistula after esophageal cancer surgery.Methods:The traditional three-tube method for the treatment of thoracic fistula after esophageal cancer surgery was the traditional group, and the modified three-tube method was the modified group. There was no spillover of the contrast agent during the above gastrointestinal angiography and the patient could eat normally as the standard of cure. In this study, we collected the data of thoracic fistula patients after esophageal cancer surgery who were treated with two kinds of treatment methods in our hospital in different time period(the traditional group: 10 patients from February 2008 to June 2014; the modified group: 36 patients from January 2012 to December 2019). Retrospective analysis of the two groups of patients in terms of general data(sex, age, etiology and other factors), time to cure and other indicators, compare the pros and cons of these two methods in the treatment of postoperative thoracic fistula.Results:There was no significant difference in general data such as sex, age, and cure time between the two groups, but there was significant difference in the cure time( P<0.01). The average cure time of the modified group was(38.08±11.97) days, which was significantly better than that of the traditional group(95.60 ± 7.79) days. Conclusion:Compared with the traditional three-tube method, the modified three-tube method can significantly shorten the treatment time when treating patients with thoracic fistula after esophageal cancer surgery.

20.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 903-906, 2020.
Article in Chinese | WPRIM | ID: wpr-871227

ABSTRACT

Objective:To explore the effect of swallowing training combined with respiratory intervention on the swallowing function and early neurodevelopment of preterm infants.Methods:Sixty-two preterm infants in neonatal intensive care were randomly divided into a study group of 30 and a control group of 32. All received routine treatment and nursing care plus touching, but the study group was additionally provided with swallowing and respiratory training. The duration of gastric tube use was observed, and a 20-item neonatal behavioral neurological assessment (NBNA) was administered at 40 weeks of corrected gestational age.Results:The average period of gastric intubation in the study group [(56.27±22.26) days] was significantly shorter than the control group′s average [(68.97±23.96) days]. The study group′s average NBNA score was significantly higher. Moreover, the NBNA scores were significantly negatively correlated with the intubation times.Conclusions:Swallowing training combined with respiratory intervention can improve the swallowing function of preterm infants, shorten the time a gastric tube is needed, and improve their early neurodevelopment.

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