[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.

[Research progress in the performance of clear aligner attachment materials].

For most patients undergoing clear aligner treatment, it could be necessary to bond multiple attachments on their tooth surfaces. The clear aligner attachment is designed to enhance aligner retention, transmit orthodontic forces, and make the programmed tooth movement more predictable. Materials such as restorative resin, orthodontic bonding adhesive, flowable resin, and resin-modified glass ionomer cement are currently used for attachment bonding. But there is currently no conclusion as to which material suits most. The objective of this review is to look into the studies published in recent years, in order to explore the optimal material option for making clear aligner attachments.

[The clinical signifinace of CEA, Cyfra21-1 and SCC in laryngeal carcinoma's clinicopathological parameters].

Objective:To investigate the clinical signifinace of carcinoembryonic antigen (CEA), cytokeratin fragment 21-1 (Cyfra21-1) or squamous cell carcinoma antigen (SCC) in laryngeal carcinoma's clinicopathological parametersthe.Method:CEA, Cyfra21-1, SCC in 53 laryngeal cancer's serum were routine preoperative detected to analyze the relationships between the tumor makers and the patient's age, primary tumor (T staging), lymph node metastasis (N staging), recurrence and metastasis.Result:According to age less than or equal to 60 years old and older than 60 years, lymph node metastasis or not lymph node metastasis, with or not with recurrence and metastasis and the T1+T2 and T3+T4 staging, the patients were divided into two groups. T test show that CEA was statistically significant in recurrence and metastasis (P= 0.047) and it is more prone to recurrence and metastasis, but CEA was not statistically significant in primary tumor (P= 0.252), lymph node metastasis (P= 0.268). Cyfra21-1 was not statistically significant in primary range (P= 0.402), but was statistically in lymph node metastasis (P= 0.041). While the lymph node metastasis, it is more prone to recurrence and metastasis in laryngeal cancer patients with Cyfra21-1's increasing (P= 0.027). SCC was not significant in primary lesions (P= 0.051),but was statistically significant in lymph node metastasis (P= 0.022). While lymph node metastasis, it is more prone to recurrence and metastasis in laryngeal cancer patients with SCC's increasing (P= 0.000). Logistic multivariate regression analization show that CEA,Cyfra21-1 and SCC were statistically significant in the recurrence and postoperative of laryngeal patients (P< 0.05) but not in the age of patient, primary tumor, the relationship and lymph node metastasis (P> 0.05).Conclusion:It is more prone to occurrence lymph node metastasis and recurrence and metastasis in the postoperative serum of laryngeal cancer patients with Cyfra21-1, SCC. CEA and Cyfra21-1 increasing. SCC were independent predictive factor of recurrence and metastasis after surgery. It is more prone to recurrence and metastasis after surgery in the laryngeal cancer patients with CEA, Cyfra21-1 and SCC preoperative increasing.