OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

OBJECTIVE: To investigate the association of various polycyclic aromatic hydrocarbon (PAH) metabolites with diverse subtypes of cardiovascular disease (CVD) risk. METHODS: A novel predicting risk of cardiovascular disease EVENTs PREVENT equation was used to estimate the 10-year diverse subtypes of CVD risk, and their associations with PAH metabolites were analyzed using multiple logistic regression models, the weighted quantile sum (WQS) model, the quantile g-computation (qgcomp) model, and a stratified analysis of subgroups. RESULTS: For this study, six thousand seven hundred and forty-five participants were selected, and significant positive associations were observed between PAHs, naphthalene (NAP), and fluorene (FLU), and the risks of total CVD, atherosclerotic cardiovascular disease (ASCVD), and heart failure (HF). NAP and FLU were the primary contributors to the effects of PAH mixtures, and their associations with total CVD, ASCVD, and HF risk were significant in younger participants (30 ≤ age < 50 years); however, the associations of phenanthrene (PHEN) with ASCVD, HF, coronary heart disease (CHD), and stroke were dominant in aging participants (age ≥ 50 years). Notably, pyrene (PYR) was negatively associated with the risk of ASCVD, HF, CHD, and stroke. Similarly, negative associations of PYR with the four CVD subtypes were noticeable in aging participants. CONCLUSION Different PAHs metabolites had different impacts on each CVD subtype among different age groups. Notably, the protective effects of PYR on ASCVD, HF, CHD, and stroke were noticeable in aging individuals.
Humans ; Cardiovascular Diseases/chemically induced* ; Middle Aged ; Polycyclic Aromatic Hydrocarbons/metabolism* ; Male ; Female ; Adult ; Aged ; Risk Factors ; China/epidemiology*

Objective:To investigate the efficacy and safety of acute stent implantation during endovascular treatment for patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis.Methods:A retrospective analysis was carried out on 46 patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis who received endovascular treatment at the Strategic Support Force Medical Center from January 2015 to August 2022. Twenty-seven patients underwent balloon angioplasty alone and 19 patients underwent acute stent implantation. The baseline characteristics, modified thrombolysis in cerebral infarction (mTICI) score of the responsible vessels, modified Rankin scale (mRS) score 90 days after operation, incidence of symptomatic intracranial hemorrhage and mortality of the two groups were evaluated.Results:The proportion of effective recanalization of the offending vessels (mTICI≥2b) in the acute stenting group was slightly higher than that in the balloon angioplasty group (16/19 vs. 81.5%), but the difference was not statistically significant ( P>0.05). Besides, there was no significant difference in the median of mRS between the acute stenting group [3.0(0, 4.0)] and the balloon angioplasty group [4.0(1.0, 5.0)] 90 days after operation ( P>0.05). In terms of safety, the incidence of symptomatic intracranial hemorrhage and mortality were comparable between the two groups ( P>0.05). Conclusions:The effect of acute stent implantation during endovascular treatment for patients with emergent large vessel occlusion due to intracranial atherosclerotic stenosis is not inferior to that of balloon angioplasty, and it does not increase the risk of intracranial bleeding complications.

Clinical cases of necrotizing fasciitis and complete urethral defects in the scrotal region are rare. The diagnosis and treatment are very challenging. This article reports one case. The patient was admitted to the hospital after 1 week of poor urination and 2 days of scrotal swelling, and then underwent bladder diversion, surgical debridement, vacuum-sealing drainage, and wound closure. After four weeks, the wound healed and the patient was discharged. Six months later after surgery, scrotal urethral reconstruction was performed using a circular phimosis pedicled skin flap graft to repair the 12 cm urethral defect. The urethral catheter was removed after three weeks. The bladder fistula tube was removed after 5 weeks. During the follow-up of one year, there was no occurrence of urinary fistula and urinary obstruction.

Animals ; Bronchoalveolar Lavage Fluid ; Cigarette Smoking ; Interleukin-17/genetics* ; Lung ; MAP Kinase Signaling System ; Mice ; Mice, Inbred C57BL ; Pulmonary Disease, Chronic Obstructive

Objective:To study the influence of anticoagulation timing on incidence of perioperative deep venous thrombosis (DVT) in elderly patients with hip fracture.Methods:A retrospective analysis was made of the 179 elderly patients with hip fracture who had been admitted to Department of Orthopedics and Traumaology, Hong-Hui Hospital from July 2017 to December 2018. They were 78 males and 101 females, aged from 62 to 91 years (mean, 79.5 years). There were 79 femoral neck fractures and 100 intertrochanteric fractures, 109 of which were treated by internal fixation and 70 by hip replacement. The patients were divided into 3 groups depending on the timing of anticoagulation after injury. In group 1 of 74 cases, anticoagulation started <24 h after injury; in group 2 of 36 cases, anticoagulation started 24 to 48 h after injury; in group 3 of 69 cases, anticoagulation started >48 h after injury. Anticoagulation continued until 12 h before surgery in all patients but was resumed 8 to 12 h after surgery. The 3 groups were compared in incidence of perioperative DVT.Results:The 3 groups were comparable due to insignificant differences between them in their pre-operative general data ( P>0.05). DVT occurred perioperatively in 84 patients, yielding an incidence of 46.9% (84/179). The incidences of perioperative DVT were 27.0% (20/74), 47.2% (17/36) and 68.1% (47/69) in groups 1, 2 and 3, respectively, showing significant differences ( χ2=24.206, P<0.001), between any 2 groups ( P<0.05). Conclusion:Since the earlier anticoagulation starts after injury the lower incidence of perioperative DVT in elderly patients with hip fracture, early standardized prophylactic anticoagulation after injury can effectively reduce incidence of perioperative DVT.

Objective:To understand the current status of foreign dual-degree programs of Medical Doctor (MD) and Master of Public Health (MPH) and provide evidence-based decision-making reference for promoting the education of high-level applied public health talents in China.Methods:The list of involved institutions and information of foreign MD-MPH dual-degree programs was collected through literature retrieval, online information searching, and additional survey of key figures. We extracted the details of each project regarding professional fields, core competence, length of schooling, teaching and learning arrangement, internship eligibility, and graduation assessment. Python 3.8.0 was used for data cleaning, and the occurrence frequency of related items in each dimension was calculated.Results:A total of 99 MD-MPH programs from 104 foreign institutions were included, among which 97.1% of them were implemented in universities from the United States. The School of Public Health provided 42.4% (42/99) of the programs. Epidemiology was the major discipline set up among most programs, accounting for 12.0% (29/241) of all the specialties involved. Epidemiological research methods, health policy management and practice, and public health practice were the top 3 core competencies to be mastered. Of the 99 programs, 87 gave information on the length of the program, of which 74.7% (65/87) were five years, 6.9% (6/87) were four years, and 18.4% (16/87) included both 4-year and 5-year programs.Conclusions:The international MD-MPH programs were sophisticated and mainly organized by the School of Public Health alone or in conjunction with the School of Medicine. Epidemiology is the core course and competence objective, with a length of 4-5 years. Through learning experience from international MD-MPH programs and the Chinese unique medical development background, China should optimize its medical education system to develop a suitable talent training strategy for MD-MPH dual-degree programs in the new era.

Objective:To explore the effects of intracoronary application of tirofiban or nicorandil in patients with acute ST-segment elevation myocardial infarction (STEMI) after percutaneous coronary intervention (PCI).Methods:A total of 198 STEMI patients who were admitted to Hefei High-Tech Cardiovascular Hospital during the period from January 2017 to January 2020 were enrolled. They were divided into tirofiban group, nicorandil group and control group by random number table method, with 66 cases in each group. Patients in the tirofiban group, nicorandil group and control group were given tirofiban, nicorandil and 0.9% sodium chloride in coronary artery before PCI, respectively. After surgery, the three groups were given routine drugs. TIMI blood flow grade and TIMI myocardial perfusion grade (TMPG) before and after surgery in the three groups were recorded. The corrected TIMI frame count (cTFC), TIMI myocardial perfusion frame count (TMPFC), peak levels of serum creatine kinase (CK) and creatine kinase isoenzymes (CK-MB) after surgery in the three groups were statistically analyzed. The reperfusion arrhythmias in PCI, severe hypotension and perioperative bleeding, and number of cases with major adverse cardiac events (MACE) within 3 months after surgery in the three groups were recorded.Results:After surgery, number of cases with TIMI blood flow grading at grade 0- 3 in tirofiban group, nicorandil group and control group was (0, 2, 4, 60) cases, (0, 1, 4, 61) cases and (1, 4, 9, 52) cases, respectively. The number of cases with TMPG grading at grade 0- 3 in tirofiban group, nicorandil group and control group was (0, 3, 6, 57)cases, (0, 2, 5, 59) cases and (1, 5, 11, 49) cases, respectively. TIMI blood flow grading and TMPG in tirofiban group and nicorandil group were significantly better than those in control group ( P<0.05), and there was no significant difference between tirofiban group and nicorandil group ( P>0.05). The cTFC, TMPFC, peak level of CK, peak level of CK-MB, incidence of reperfusion arrhythmia and incidence of MACE in tirofiban group, nicorandil group and control group were [(25.32 ± 5.11) frames, (93.84 ± 13.46) frames, (1 095.32 ± 306.36) U/L, (191.81 ± 63.31) U/L, 19.70%, 18.18%], [(25.17 ± 5.38) frame, (94.74 ± 13.17) frame, (1 113.19 ± 385.68) U/L, (189.72 ± 62.22) U/L, 18.18%, 21.21%] and [(29.85 ± 7.63) frames, (101.38 ± 18.52) frames, (1 669.81 ± 537.61) U/L, (341.68 ± 108.57) U/L, 36.36%, 39.39%], respectively. The above indexes in tirofiban group and nicorandil group were significantly lower than those in control group ( P<0.05), and there was no significant difference between tirofiban group and nicorandil group ( P>0.05). Conclusions:Preoperative intracoronary application of tirofiban or nicorandil is conducive to improving myocardial function and micro-circulation disorders in STEMI patients after PCI, which is of positive roles on improving the short-term prognosis of cardiac function.

BACKGROUND: Coronary atherosclerotic plaque could go through rapid progression and induce adverse cardiac events. This study aimed to evaluate the impacts of smoking status on clinical outcomes of coronary non-target lesions. METHODS: Consecutive patients with coronary heart disease who underwent two serial coronary angiographies were included. All coronary non-target lesions were recorded at first coronary angiography and analyzed using quantitative coronary angiography at both procedures. Patients were grouped into non-smokers, quitters, and smokers according to their smoking status. Clinical outcomes including rapid lesion progression, lesion re-vascularization, and myocardial infarction were recorded at second coronary angiography. Multivariable Cox regression analysis was used to investigate the association between smoking status and clinical outcomes. RESULTS: A total of 1255 patients and 1670 lesions were included. Smokers were younger and more likely to be male compared with non-smokers. Increase in percent diameter stenosis was significantly lower (2.7 [0.6, 7.1] % vs. 3.5 [0.9, 8.9]%) and 3.4 [1.1, 7.7]%, P = 0.020) in quitters than those in smokers and non-smokers. Quitters tended to have a decreased incidence of rapid lesions progression (15.8% [76/482] vs. 21.6% [74/342] and 20.6% [89/431], P = 0.062), lesion re-vascularization (13.1% [63/482] vs. 15.5% [53/432] and 15.5% [67/431], P = 0.448), lesion-related myocardial infarction (0.8% [4/482] vs. 2.6% [9/342] and 1.4% [6/431], P = 0.110) and all-cause myocardial infarction (1.9% [9/482] vs. 4.1% [14/342] and 2.3% [10/431], P = 0.128) compared with smokers and non-smokers. In multivariable analysis, smoking status was not an independent predictor for rapid lesion progression, lesion re-vascularization, and lesion-related myocardial infarction except that a higher risk of all-cause myocardial infarction was observed in smokers than non-smokers (hazards ratio: 3.00, 95% confidence interval: 1.04-8.62, P = 0.042). CONCLUSION Smoking cessation mitigates the increase in percent diameter stenosis of coronary non-target lesions, meanwhile, smokers are associated with increased risk for all-cause myocardial infarction compared with non-smokers.