[Genetic characteristics and clinical analysis of 20 patients with Gaucher's disease].

Gaucher Disease (GD) is an autosomal recessive lysosomal storage disorder characterized by high heterogeneity. This study aimed to further understand the correlation between clinical phenotypes and genotypes in GD patients through a retrospective analysis of 20 cases in Shanxi Bethune Hospital, including their clinical manifestations, laboratory tests, enzyme studies, and genetic results. Among the 20 GD patients, 16 were classified as Type Ⅰ GD with a median age of diagnosis of 24 years, and 4 were classified as Type Ⅲ GD with a median age of diagnosis of 19 years. All patients exhibited splenomegaly and thrombocytopenia, with 16 patients showing skeletal imaging changes, and 5 of them presenting with bone pain symptoms. Genetic analysis revealed 15 distinct mutations, predominantly missense mutations, with L483P being the most prevalent (35.7%), followed by V414L, L303I, and F252I. Mutation sites were predominantly located in exon 7. Noteworthy findings included the first report of the S310G mutation by our research group and the first occurrence of the K196R mutation in the Chinese population. Additionally, the N227S mutation was implicated in a potential association with neuropathy. Despite advancements, Uncertainties still exist in the correlation between clinical phenotypes and genotypes in GD patients.

[Application and development of alveoloplasty in implant-supported full-arch fixed prosthesis].

Implant-supported full-arch fixed prosthesis is hot in edentulous therapy currently. Appropriate contour of bone is the premise of good restoration outcome. Alveoloplasty is an important part during treatment procedure. Alveoloplasty can be used to obtain bone platform for implant insertion, create adequate prosthetic space, achieve good Aesthetic effect, and form appropriate soft tissue morphology. The design of alveoloplasty has evolved from traditional plaster models and cone beam CT to three-dimensional (3D) virtual patients. The surgical techniques of alveoloplasty have also undergone the evolution from free-hand to static guide or dynamic navigation. This article elaborates on the concept, purpose and significance of alveloplasty in implant supported full-arch fixed restoration, technology evolution and process to provide reference for clinical practice.

[Application of neuroendoscopy combined with fluorescence angiography in anterior circulation aneurysm clipping].

Objective: To explore the value of neuroendoscopy combined with fluorescence angiography in anterior circulation aneurysm clipping. Methods: A total of 15 patients with anterior circulation aneurysm from Department of Neurosurgery, Zhongnan Hospital of Wuhan University between October 2018 and January 2019 were enrolled. Neuroendoscopy combined with indocyanine green fluorescence angiography (ICGA) was used to determine the shape of the aneurysm, the specific location of the aneurysm neck and its relationship with the aneurysm-bearing artery during anterior circulation aneurysm clipping. Meanwhile, Neuroendoscopy combined with ICGA can be employed to observe whether there was stenosis and incomplete clamping of the aneurysm-bearing artery after clipping the aneurysm, and whether there was misclamping of the perforating branches hidden under the posterior wall of the aneurysm. Results: The success rate of aneurysm clipping in 15 cases was 15/15. After aneurysm clipping, ICGA and neuroendoscopy were performed. The residual aneurysm neck was detected in 3 cases, and the position of aneurysm clip was adjusted or aneurysm clips were added. In one case, the anterior choroidal aneurysm was found to be mistakenly clipped. After adjusting the aneurysm clip, ICGA and neuroendoscopy showed that the anterior choroidal artery was normal. In another case, the A1 segment aneurysm was clipped. ICGA and neuroendoscopy found that the perforating branch blood vessels were mistakenly clipped. After the adjustment of the aneurysm clip, the blood vessels recovered their patency. There were no surgical-related deaths, disability and coma cases in the study. Conclusions: During aneurysm clipping, neuroendoscopy combined with ICGA can reduce cerebral vasospasm, decrease the misclipping rate of perforation of blood vessels, and avoid residual neck of aneurysm, stenosis or occlusion of aneurysm-bearing artery by using neuroendoscopy to observe whether misclipping of the perforating branch vessels exist and whether the aneurysm is clipped. Therefore, it can reduce postoperative complications.

[Establishment of the characterization of an adult digits-in-noise test based on internet].

Objective:The aim of this study is to explore the sensitivity and specificity of the internet-based digital noise threshold (DIN) test for detecting noise-induced hearing loss, expecting to provide a rapid and effective screening tool for clinical application. Method:This study enrolled 50 adult subjects, of which 34 were normal hearing (NH), 16 patients with sensorineural hearing loss (SNHL). Pure-tone audiometry, acoustic immittance and DIN test were tested respectively. Pearson's correlation coefficient was used to analyze the correlation between NH and SNHL. The eigenvalues, sensitivities and specificities of the tested materials were determined by receiver operating characteristic curve (ROC curve) and the area under the curve. Result:①The correlation between the speech recognition threshold (SRTn) and pure tone audiometry thresholds (average of 0.5, 1, 2 and 4 kHz) was 0.85 (P<0.01). ②The optimal cut off point for DIN-based test materials under noise based on Internet technology was -9.5 dB, which means that hearing loss is highly suspect when DIN is above this value under noise and should be referred to a hearing center for diagnostic tests. ③The sensitivity and specificity was 0.938 and 0.941 respectively with -0.95 dB as the best cutoff point. Conclusion:This DIN test based on Internet, which has an excellent performance as a hearing screening method with good sensitivity and specificity, could be an effective tool for large-scale adult hearing screening.

Physical properties of gastrointestinal stromal tumors based on atomic force microscope analysis.

This study was designed to detect the stiffness of single living gastrointestinal stromal tumor (GIST) cells in vitro using an atomic force microscope as a probe tool. We determined that the stiffness of living GIST cells was 3913 Pa, the stiffness of the membrane was 642 Pa, and the stiffness of the cytoplasm was 17,550 Pa. For comparison, we also determined the stiffness of a normal stomach cell, which was 7374 Pa, and that of in vitro GIST cells after 2 h of exposure, which was 10,680 Pa. Measuring the mechanical properties of individual GIST cells might provide more complementary information for the diagnosis and treatment of GISTs from the perspective of physical characteristics.

[Clinical anti-caries effect of dentifrice containing two fluorides]

Anti-caries effect of dentifrice containing sodium monofluorophophate and sodium fluoride was studied among 2-3 years OLD nursery children.After one year,both mean dft and dfs were very significantly lower than those of control groups.