Objective To compare three dimensional arterial spin labeling(3D-ASL) and dynamic susceptibility contrast-perfusion weighted imaging(DSC-PWI) in evaluating the cerebral hemodynamic of Moyamoya disease. Methods Approved by the institutional review board, 26 cases of Moyamoya patients who were diagnosed by DSA were enrolled. Diffusion weighted image, 3D-TOF-MRA, 3D-ASL, DSC-WPI, and T1WI were performed in 3.0 T MR scanner. ROI were positioned in the abnormal perfusion areas and the control area according to the arterial dominant territory to obtain quantitative parameters of perfusion. Perfusion parameters including cerebral blood flow(CBF) of ASL, cerebral blood flow(CBF), cerebral blood volume(CBV), mean transit time(MTT), and time to peak(TTP)of DSC-PWI , and relative parameters (ASL-rCBF, DSC-rCBF, DSC-rCBV, DSC-rMTT, DSC-rTTP) that the ratio of abnormal perfusion area and the control area were calculated. Meanwhile, the areas of the lower perfusion region of ASL and TTP images in the same slice were measured. Difference of the above-mentioned parameters and areas was processed by paired Student′ t test. Furthermore, correlation of relative values of perfusion parameters(ASL-rCBF, DSC-rCBF, DSC-rCBV, DSC-rMTT, and DSC-rTTP) was processed by Pearson correlation test. Results There were significant statistics differences between values of ASL-CBF, DSC-MTT, and DSC-TTP in abnormal perfusion [(28.18 ± 10.19)ml · 100 g-1 · min-1,(7.98 ± 2.22)s,(29.93 ± 3.95)s] and the control areas [(49.50 ± 11.37)ml · 100 g-1 · min-1,(6.07 ± 1.11)s,(27.34 ± 2.58)s] (t=-12.818, 4.193, 6.163, all P<0.01). There was no significant statistics difference in the lower perfusion area between ASL-CBF [(5 729.63 ± 4 563.79) mm2]and DSC-TTP[(5 875.33 ± 4 723.08)mm2](t=-1.774,P>0.05). Furthermore, the Pearson correlation test showed significant linear dependence between ASL-rCBF(0.56±0.14)and DSC-rMTT(1.34± 0.42), and DSC-rTTP(1.09 ± 0.69)(r=-0.630,-0.748, P<0.01). Conclusions There is a correlation between 3D-ASL and DSC-PWI in assessing the magnitude and areas of the reduction of blood perfusion of Moyamoya patients. Moreover, the ASL technique possesses advantages of non-invasion use of the gadolinium contrast.

Objective To investigate the characteristics of common deafness genes mutation from 222 sensori-neural hearing loss patients in Guangxi province.Methods A deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes.A total of 222 hearing impaired patients,who were selected from January 2015 to April 2016,were tested.The samples that could not be diagnosed with DNA mi-croarray were subjected to PCR and sequenced to detect other mutations.Results Among the 222 patients with sen-sorineural deafness,the total mutation rate was 10.36% (23/222),including GJB2 235delC homozygous in 3 cases (1.35%),235delC single heterozygous mutation in 8 cases (3.60%),35delG single heterozygous mutation in 2 cases (0.90%),GJB2 235delC and 109 A>G mutations in 2 cases (0.90%),SLC26A4 1229C>T homozygous in 2 case (0.90%),IVS7-2 A>G heterozygous mutation in 2 cases (0.90%);IVS7-2A>G,IVS11+47T>C and 1548 insC mutations in 2 cases (0.90%);GJB3 538C>T heterozygous mutation in 1 cases (0.45%);Mitochondrial 12S rRNA gene heterogeneous mutations in 1 case (0.45%).One of them carry both two mutations:GJB2 235 del C and SLC26A4 1226 G>A.Conclusion The results indicate that GJB2 and SLC26A4 were the main genes in this study,and in Guangxi province the mutation rate is significantly lower than the national average level.3 new muta-tions (SLC26A4 IVS11+47T ! C,1548insC and GJB2 109A>G)were found.There may be some rare mutations among sites or genes caused deafness in Guangxi.

OBJECTIVE: To investigate the mutation characteristics of common deafness gene from 127 non-syndromic hearing loss patients in Guangxi province. METHOD: Deafness-related gene mutations detection kit was used to detect 15 mutation sites in four deafness-associated genes, and a total of 127 hearing impaired patients were tested. The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations. RESULT Among the 127 patients with non-syndromic deafness, the total mutation rate is 8.66% (11/127), including GJB2 235delC homozygous in 3 cases (2.36%), 235delC single heterozygous mutation in 2 cases (1.57%), GJB2 235delC and 109 A > G mutations in 2 cases (1.57%); SLC26A4 1229C > T homozygous in 1 case (0.79%), IVS7-2A > G, IVS11 + 47T > C and 15448insC mutaion in 2 cases (1.57%); mitochondrial 12S rRNA gene mutations were not detected. The result indicates that GJB2 and SLC26A4 were the main genes in this study, and the mutation rate is significantly lower than the national average level. Three new mutations (SLC26A4 IVS11 + 47T > C,1548insC and GJB2 109A > G) were found. There may be rare mutations among sites or genes associated with deafness in Guangxi.
China ; Connexin 26 ; Connexins ; genetics ; DNA Mutational Analysis ; Deafness ; genetics ; Heterozygote ; Homozygote ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics ; Sulfate Transporters

Objective: Clinical medical record data associated with hepatitis B-related acute-on-chronic liver failure (HBV-ACLF) generally have small sample sizes and a class imbalance. However, most machine learning models are designed based on balanced data and lack interpretability. This study aimed to propose a traditional Chinese medicine (TCM) diagnostic model for HBV-ACLF based on the TCM syndrome differentiation and treatment theory, which is clinically interpretable and highly accurate. Methods: We collected medical records from 261 patients diagnosed with HBV-ACLF, including three syndromes: Yang jaundice (214 cases), Yang-Yin jaundice (41 cases), and Yin jaundice (6 cases). To avoid overfitting of the machine learning model, we excluded the cases of Yin jaundice. After data standardization and cleaning, we obtained 255 relevant medical records of Yang jaundice and Yang-Yin jaundice. To address the class imbalance issue, we employed the oversampling method and five machine learning methods, including logistic regression (LR), support vector machine (SVM), decision tree (DT), random forest (RF), and extreme gradient boosting (XGBoost) to construct the syndrome diagnosis models. This study used precision, F1 score, the area under the receiver operating characteristic (ROC) curve (AUC), and accuracy as model evaluation metrics. The model with the best classification performance was selected to extract the diagnostic rule, and its clinical significance was thoroughly analyzed. Furthermore, we proposed a novel multiple-round stable rule extraction (MRSRE) method to obtain a stable rule set of features that can exhibit the model’s clinical interpretability. Result: The precision of the five machine learning models built using oversampled balanced data exceeded 0.90. Among these models, the accuracy of RF classification of syndrome types was 0.92, and the mean F1 scores of the two categories of Yang jaundice and Yang-Yin jaundice were 0.93 and 0.94, respectively. Additionally, the AUC was 0.98. The extraction rules of the RF syndrome differentiation model based on the MRSRE method revealed that the common features of Yang jaundice and Yang-Yin jaundice were wiry pulse, yellowing of the urine, skin, and eyes, normal tongue body, healthy sublingual vessel, nausea, oil loathing, and poor appetite. The main features of Yang jaundice were a red tongue body and thickened sublingual vessels, whereas those of Yang-Yin jaundice were a dark tongue body, pale white tongue body, white tongue coating, lack of strength, slippery pulse, light red tongue body, slimy tongue coating, and abdominal distension. This is aligned with the classifications made by TCM experts based on TCM syndrome differentiation and treatment theory. Conclusion Our model can be utilized for differentiating HBV-ACLF syndromes, which has the potential to be applied to generate other clinically interpretable models with high accuracy on clinical data characterized by small sample sizes and a class imbalance.

Hip fracture is considered as the most severe osteoporotic fracture characterized by high disability and mortality in the elderly. Improved surgical techniques and multidisciplinary team play an active role in alleviating prognosis, which places higher demands on perioperative nursing. Dysfunction, complications, and secondary impact of anaesthesia and surgery add more difficulties to clinical nursing. Besides, there still lack clinical practices in perioperative nursing for elderly patients with hip fracture in China. In this context, led by the Orthopedic Nursing Committee of Chinese Nursing Association, the Expert consensus on clinical practice in perioperative nursing for elderly patients with hip fracture ( version 2023) is developed based on the evidence-based medicine. This consensus provides 11 recommendations on elderly patients with hip fracture from aspects of perioperative health education, condition monitoring and inspection, complication risk assessment and prevention, and rehabilitation, in order to provide guiding advices for clinical practice, improve the quality of nursing and ameliorate the prognosis of elderly patients with hip fracture.