Objective To observe the two different wetting fluid in airway humidification of patients with mechanical ventilation.Methods 40 patients with mechanical ventilation after cardiac surgery in our hospital from January to April,2009,were divided randomly into group A and group B,group A was given 0.45% sodium chloride solution 100ml plus ambroxol 15mg as airway humidification fluid,group B was given sterile water for injection100 ml plus ambroxol 15mg as airway humidification liquid.The amount of sputum aspiration,color,viscosity,the body temperature of patients,the lungs auscultation and chest X-ray were observed.Results No statistical difference was seen in sputum volume,color,viscosity,the body temperature of patients,lungs auscultation as well as chest X ray after mechanical ventilation for 4 hours,8 hours,16 hours,24 hours,1～2 d,3～5 d,6～7 d.No statistical difference was also seen in auscultation of the lung after mechanical ventilation for 4 hours,16 hours,24 hours,1～2 d,3～5 d,6～7 d.But auscultation of the lung in group B was better than that of group A after mechanical ventilation for 8 hours.Conclusions No sufficient fact can prove that different effect exists between 100 ml 0.45% sodium chloride solution plus ambroxol 15mg and 100 ml sterile water for injection plus ambroxol 15mg as airway humidification fluid during mechanical ventilation.

Objective To investigate surgical exposure,reduction and fixation of the severe Pilon fractures. Methods A total of 11 patients with severe Pilon fractures (Rüedi-Allgwer type Ⅲ or AO/OT type C3 ) were managed by anteriormedial malleolar approach in combination with transfibular fracture or fibular osteotomy approach to reveal the tibiotalar joint.Reduction was performed under direct vision and then the tibia was fixed followed by fibula fixation. Results All patients obtained satisfactory bone reduction including nine patients with Ⅰ stage wound healing and two with Ⅱ stage wound healing.No sclerotin infection occurred.The fractures as well as the osteotomy sites were healed. Conclusions The double operative approaches can completely expose the tibiotalar joint,favor the reduction and fixation of the displaced bone fragments and attain satisfactory short-term reduction and fixation effects in the treatment of severe Pilon fractures.

Intracranial atherosclerotic disease is one of the main causes of ischemic stroke. Imaging evaluation plays an important role in the formulation of treatment strategies. More and more studies have shown that the changes in hemodynamics after stenosis may have higher predictive value for stroke onset/recurrence compared to the degree of stenosis. This article reviews the evaluation of cerebral hemodynamics in intracranial atherosclerotic diseases.

OBJECTIVETo confirm the genetic diagnosis of two patients with ring chromosome 22 syndrome and investigate the mechanism underlying the formation of r(22) and potential genetic causes for the clinical phenotypes.

METHODSCytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and single nucleotide polymorphism array (SNP array) were performed.

RESULTSFor case 1, the karyotype was 46,XY,r(22)(p11q13). SNP array has identified a 7.0 Mb heterozygous deletion at 22q13.2q13.33. For case 2, the karyotype was 46,XY,r(22)(p11q13)[84]/45,XY,-22[6]; SNP array has detected a heterozygous microdeletion of 1.6 Mb at 22q13.33.

CONCLUSIONWith combined application of genetic testing, 2 cases of r(22) syndrome were diagnosed, which has improved the understanding of the genotype-phenotype correlation of r(22).

Child, Preschool ; Chromosome Banding ; Chromosomes, Human, Pair 22 ; genetics ; Genetic Testing ; Humans ; Male ; Nerve Tissue Proteins ; genetics ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Ring Chromosomes

Objective:To investigate the pathogenesis, selection of endovascular treatment (EVT) strategies, and efficacies of acute vertebrobasilar artery occlusion (AVBAO) of different lesion sites.Methods:One hundred and five patients with AVBAO, admitted to and accepted EVT in our hospital from February 2017 to September 2019, were chosen in our study. The data of disease onset, imaging findings, EVT status, perioperative complications, and prognoses of these patients were collected. According to DSA results, the involved lesions were divided into 4 sites: the upper segment of basilar artery (BA), the middle segment of BA, the lower segment of BA, and the intracranial segment of vertebral artery (V4 segment), and patients with tandem lesions would be recorded as distal lesions. The risk factors, EVT strategies, and prognoses 90 d after follow-up (modified Rankin scale [mRS] scores≤3: good prognosis) were compared in patients with 4 different lesion sites.Results:There were significant differences in etiological classifications and percentage of patients combined with atrial fibrillation among patients with 4 different lesion sites ( P<0.05). There was significant difference in proportion of patients accepted emergency stent implantation among patients with 4 different lesion sites ( P<0.05): those with lesions at the V4 segment had the highest proportion of patients accepted emergency stent implantation (79.55%), followed by those with lesions at the lower segment of BA (50.00%). There was significant difference in EVT time (the time from arterial puncture to successful recanalization of occluded vessels) among patients with 4 different lesion sites ( P<0.05): the EVT time in patients with lesions at the middle segment of BA was the shortest (87.5 [58.5, 130.8] min), and the EVT time in patients with lesions at the lower segment of BA was the longest (115.0 [81.0, 163.0] min). There was no statistical difference among patients with different lesion sites in good prognosis rate 90 d after follow-up ( P>0.05). Conclusion:The pathogenesis of patients with different AVBAO lesion sites is different, so different EVT strategies should be adopted.

Objective:To assess the role of arterial spin labeling (ASL) in detecting the blood-brain barrier (BBB) permeability of cerebral infarction lesions in patients with anterior circulation subacute ischemic stroke (SIS), and to evaluate the value of ASL in predicting hemorrhagic transformation (HT) of SIS patients after endovascular recanalization.Methods:A prospective analysis was performed. Patients with anterior circulation SIS who received endovascular treatment (EVT) in our hospital from January 2021 to September 2021 were enrolled. At 24 h before EVT and immediately after EVT, MRI scans of ASL sequences and dynamic contrast-enhanced magnetic resonance (DCE) sequence were completed, and Xper CT was performed; accordingly, imaging typing was performed. Head CT scan was performed 24-48 h after EVT to observe HT; according to the presence or absence of HT, these patients were divided into HT group and non-HT group; the relative cerebral blood flow (rCBF) values of ASL sequence parameters, volume transfer constant (K trans) of DCE sequence parameters and the differences of ASL, DCE and Xper CT imaging types between the two groups were compared. The weighted Kappa coefficient was used to test the consistency among ASL, DCE and Xper CT imaging types. Results:Among 22 eligible patients, 5 patients occurred HT (5/22, 22.72%). As compared with those in the non-HT group (1.14±0.04; 0.032[0.024, 0.039]/min), patients in the HT group had significantly higher rCBF value (1.57±0.18) and K trans (0.072[0.0455, 0.117]/min, P<0.05). There were significant differences in the distribution of ASL, DCE and Xper CT imaging types between the two groups ( P<0.05); among them, 4 out of 6 patients with ASL imaging type III, 4 out of 6 patients with DCE imaging type III, and 4 out of 5 patients with Xper CT imaging type III had HT. ASL sequence and DCE sequence had a high consistency in the imaging types (Kappa coefficient=0.941, 95%CI: 0.862-1.020, P<0.001). Conclusion:ASL can effectively evaluate the BBB permeability of cerebral infarction lesions in patients with anterior circulation SIS; patients with ASL imaging type III have a relatively high risk of HT.

Objective:To assess the role of arterial spin labeling (ASL) in detecting the blood-brain barrier (BBB) permeability of cerebral infarction lesions in patients with anterior circulation subacute ischemic stroke (SIS), and to evaluate the value of ASL in predicting hemorrhagic transformation (HT) of SIS patients after endovascular recanalization.Methods:A prospective analysis was performed. Patients with anterior circulation SIS who received endovascular treatment (EVT) in our hospital from January 2021 to September 2021 were enrolled. At 24 h before EVT and immediately after EVT, MRI scans of ASL sequences and dynamic contrast-enhanced magnetic resonance (DCE) sequence were completed, and Xper CT was performed; accordingly, imaging typing was performed. Head CT scan was performed 24-48 h after EVT to observe HT; according to the presence or absence of HT, these patients were divided into HT group and non-HT group; the relative cerebral blood flow (rCBF) values of ASL sequence parameters, volume transfer constant (K trans) of DCE sequence parameters and the differences of ASL, DCE and Xper CT imaging types between the two groups were compared. The weighted Kappa coefficient was used to test the consistency among ASL, DCE and Xper CT imaging types. Results:Among 22 eligible patients, 5 patients occurred HT (5/22, 22.72%). As compared with those in the non-HT group (1.14±0.04; 0.032[0.024, 0.039]/min), patients in the HT group had significantly higher rCBF value (1.57±0.18) and K trans (0.072[0.0455, 0.117]/min, P<0.05). There were significant differences in the distribution of ASL, DCE and Xper CT imaging types between the two groups ( P<0.05); among them, 4 out of 6 patients with ASL imaging type III, 4 out of 6 patients with DCE imaging type III, and 4 out of 5 patients with Xper CT imaging type III had HT. ASL sequence and DCE sequence had a high consistency in the imaging types (Kappa coefficient=0.941, 95%CI: 0.862-1.020, P<0.001). Conclusion:ASL can effectively evaluate the BBB permeability of cerebral infarction lesions in patients with anterior circulation SIS; patients with ASL imaging type III have a relatively high risk of HT.

Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10
Aneurysm, Dissecting/genetics* ; Case-Control Studies ; Cluster Analysis ; Cohort Studies ; Collagen Type III/genetics* ; Computational Biology ; Genetic Predisposition to Disease ; Humans

Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.