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May 2, 2023

Logistic Multiple Regression Analysis of CT Image Evaluation of Wrist Arthroscopy-assist ed Small Incision Treatment on Postoperative Healing and Wrist Function of Patients with Distal Radius Fractures

1.1. Objective: To assess the postoperative healing of patients with distal radius fractures treated with wrist arthroscopy-assisted small incision and its effect on wrist function using CT images combined with Logistic multiple regression analysis. 1.2. Methods: 166 patients with distal radius fracture were ran domly divided into control group (open reduction and internal fixation) and study group (wrist arthroscopy-assisted small inci sion treatment), with 83 cases for each group. All patients under went postoperative CT examination, Logistic multiple regression analysis was used to assess the recovery of wrist function, and the postoperative healing of the two groups was also assessed and compared. 1.3. Results: The operation time of the study group was longer than that of the control group, and the intraoperative blood loss and hospitalization time were less than those of the control group (P < 0.05); the fracture wound healing time in study group was shorter than that in control group, and disabilities of the arm, shoulder, and hand (DASH) score at 3 and 6 months after operation in study group was lower than that in control group (P < 0.05); the pain se verity, psychological status, independent ability, and life comfort score at 1, 3, and 6 months after operation in both groups were higher than those before treatment, and the score in study group was higher than that in control group (P < 0.05); CT image found that the palmar inclination angle and ulnar deviation angle in study group were greater than those in control group (P < 0.05). Logistic multiple regression analysis showed that operation time and blood loss could be used as independent factors affecting postoperative fracture healing and wrist joint function recovery in both groups (P

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A Novel Heterozygous Mutation of Slc12a3 Gene in a Chinese Pedigree With Gitelman Syndrome

1.1. Objective: Gitelman syndrome (GS) is an autosomal reces sive tubular disorder characterized by metabolic alkalosis, hypo kalemia, hypomagnesemia and hypocalciuria. GS is mostly caused by inactivating mutations of the SLC12A3 gene. The purpose of this study was to describe the clinical features of a GS patient and investigate the underlying mutations of SLC12A3 gene in the ped igree. 1.2. Methods: A patient suffering from muscle weakness was clin ically diagnosed as GS. Clinical data of the proband were studied retrospectively. All of his family members were screened for SL C12A3 gene mutations. 26 exons and exon-intron boundaries of SLC12A3 gene were amplified by Polymerase Chain Reaction(P CR). PCR products were sequenced directly. 1.3. Results: The proband had hyperreninemia but hypoaldoster onemia, which was distinct from the cases previously reported. The proband and his sick brother were found to have the same compound heterozygous mutations (c.917C>T and IVS 14-8T>C) of SLC12A3 gene. Each mutation was detected in paternal and maternal genomic DNA, respectively. The proband’s healthy brother had one mutation (c.917C>T) only. IVS 14-8T>C was a novel splicing site mutation that had never been reported. 1.4. Conclusion: Hypoaldosteronemia was found in a GS patient. A novel heterozygous splicing site mutation of the SLC12A3 gene was reported, expanding the spectrum of SLC12A3 gene muta tions.

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