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1.
Frontiers of Medicine ; (4): 150-155, 2022.
Article in English | WPRIM | ID: wpr-929187

ABSTRACT

Cystic fibrosis (CF) is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator (CFTR). To identify the potential pathogenic mutations in a Chinese patient with CF, we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic regions. The patient is a compound heterozygote of c.2909G > A, p.Gly970Asp in exon 18 and c.1210-3C > G in cis with a poly-T of 5T (T5) sequence, 3 bp upstream in intron 9. The splicing effect of c.1210-3C > G was verified via minigene assay in vitro, indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript, whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon 10. Overall, c.1210-3C > G, the newly identified pathogenic mutation in our patient, in combination with T5 sequence in cis, affects the CFTR gene splicing and produces nearly no normal transcript in vitro. Moreover, this patient carries a p.Gly970Asp mutation, thus confirming the high-frequency of this mutation in Chinese patients with CF.


Subject(s)
China , Cystic Fibrosis/genetics , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Humans , Mutation , Poly T , RNA, Messenger/genetics
2.
Article in Chinese | WPRIM | ID: wpr-909164

ABSTRACT

Objective:To investigate the clinical application value of craniotomy with hematoma evacuation combined with decompressive craniectomy in the treatment of severe traumatic brain injury.Methods:Sixty-eight patients with severe traumatic brain injury who received treatment in China Coast Guard Bureau Hospital, China between June 2016 and June 2019 were randomly assigned to receive either craniotomy with hematoma evacuation combined with decompressive craniectomy (observation group, n = 34) or conventional craniotomy (control group, n = 34). Surgical value for severe traumatic brain injury and the occurrence of complications were compared between the observation and control groups. Results:Before treatment, there were no significant differences in intracranial pressure, National Institute of Health Stroke Scale score, activity of daily living between the observation and control groups (all P > 0.05). After 7 days of treatment, intracranial pressure in the two groups was significantly decreased compared with before treatment, and intracranial pressure in the observation group was significantly lower than that in the control group ( t = 17.284, P < 0.001). After treatment, Glasgow Coma Scores were significantly increased in the two groups, and Glasgow Coma Scores in the observation group were significantly higher than those in the control group ( t = 5.823, 7.185, 9.234, all P < 0.05). In addition, the numbers of patients with grade I, II and III severe traumatic brain injury in the observation group were significantly lower than those in the control group (all P < 0.05). The number of patients with grade V prognosis in the observation group was significantly higher than that in the control group [20 (58.8%) vs. 8 (23.5%), χ2 = 8.743, P < 0.05]. After treatment, severe traumatic brain injury was mitigated in the two groups. National Institute of Health Stroke Scale score in the observation group was significantly lower than that in the control group, and the activity of daily living in the observation group was significantly higher than that in the control group. The numbers of patients with delayed hematoma, a need for reoperation, hydrocephalus, acute encephalocele, epilepsy, and intracranial infection in the observation group were significantly lower than those in the control group. Conclusion:Craniotomy with hematoma evacuation combined with decompressive craniectomy for treatment of severe traumatic brain injury can greatly decrease intracranial pressure, reduce the degree of injury and improve prognosis.

3.
Article in Chinese | WPRIM | ID: wpr-482354

ABSTRACT

Objective To analyse effect of Danhong injection on serum levels of bone markers and healing time in postoperative patients with tibial fractures.Methods 52 patients who were diagnosed with tibial fractures in our hospital were collected and randomly divided into control group and experimental group.All patients were treated with intramedullary nailing.After the operation, on the basis of routine treatment, patients in control group were treated with ossotide injection 50 mg, dissolved in 250 mL 0.9% sodium chloride solution, one times per day.Patients in experimental group was treated with Danhong injection 20 mL, dissolved in 250 mL 0.9% sodium chloride solution, one times per day.14 days for one period of treatment, two groups were treated for two cycles.After the treatment,the serum levels of bone Gla-protein (BGP), carboxyterminal propeptide of typeⅠprocollagen (PICP), bone alkaline phosphatase (BALP) and the racture healing time were detected in all patients.Results Compared with control group post-treatment, the serum BGP and PICP levels were higher in experimental group (P<0.05);the serum BALP level was higher in experimental group (P<0.05); the average fracture healing time of the patients in experimental group was shorter (P<0.05).Conclusion Danhong injection can significantly increase the serum BGP, PICP and BALP level in postoperative patients with tibial fractures, shorten fracture healing time.

4.
Article in Chinese | WPRIM | ID: wpr-556678

ABSTRACT

Objective To investigate the difference and significance of the clinical index for the aged suffered from type 2 diabetes mellitus in southern part of Guizhou. Methods A total of 240 old patients of type 2 diabetes mellitus were divided into 5 groups according to the complications (non-complications, 43; cerebrovascular disease, 20; macroangiopathy, 43; peripheral neuropathy, 67; diabetic retinopathy, 67) and 5 groups according to the different nationalities (Han 90, Miao 60, Buyi 70, Shui 12, Other 8). The chemical index including serum FBG, HbAlc, TC, TG, and HDL-c of all patients were detected. The results were treated with t-test and X2 test. Results The serum levels of FBG, HbAlc, TC, TG in the diabetic patients with complications were higher than that of non-complication patients (P

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