OBJECTIVE: To investigate the clinical characteristics and genetic variant in a Chinese pedigree affected with thiamine pyrophosphokinase deficiency (TPKD). METHODS: Clinical data of the pedigree were analyzed retrospectively and summarized from the perspectives of clinical manifestation, magnetic resonance imaging (MRI), and genotype. Relevant literature was also reviewed. RESULTS: The proband, a female, has developed paroxysmal ataxia with dystonia at the age of 2-year-and-8-month. The ataxia has recurred for 7-8 times. The child had died at 11 years old due to recurrence and aggravation of the disease. MRI showed diffuse symmetrical lesions of brain parenchyma and spinal cord. Her brother had similar symptoms and died at 6. The parents were consanguineous but healthy. Genetic testing revealed that the girl has carried homozygous c.161C>T variants of the TPK1 gene, suggesting the diagnosis of TPKD. So far 15 cases of TPKD have been reported, among which 9 were from consanguineous marriages. The disease usually occurs before the age of 3, and most patients had featured paroxysmal encephalopathy and recurrent infections. Symmetrical celebral cortex, basal ganglia and cerebellum lesions were common. Missense mutations of the TPK1 gene were common. Vitamin B1 was effective in some cases. CONCLUSION For infants featuring encephalopathy, ataxia, dystonia and other phenotypes, early genetic testing should be recommended in order to provide guidance for clinical treatment and genetic counseling.
Child ; China ; Female ; Genetic Testing ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Mutation ; Pedigree ; Retrospective Studies ; Thiamin Pyrophosphokinase/genetics*

Objective:To systematically describe and analyze the influencing factors of care burden among family caregivers for the disabled elderly.Methods:PubMed, Web of Science, Cochrane Library, EBSCO, CNKI, China Biology Medicine disc, VIP and Wanfang Databases were searched for literatures on the influencing factors of care burden among family caregivers of the disabled elderly. The retrieval period was from establishment of databases to 1 March, 2022. The literature screening, data extraction and quality evaluation were completed by two evaluators. RevMan 5.4 software was used for meta-analysis of data, and descriptive analysis was used for influencing factors that could not be combined.Results:A total of 7 literatures including 3 161 caregivers were included. According to caregiver adaptation model, the associated factors could be grouped into care recipient factors and caregiver factors. The results of meta-analysis showed that the main influencing factors of care burden among family caregivers for the disabled elderly included the degree of disability ( WMD=-10.66, 95% CI: -12.08--9.23, P<0.001), cognitive function ( WMD=3.63, 95% CI: 1.24-6.01, P=0.003), occupational status of caregivers ( WMD=-2.64, 95% CI: -4.35--0.93, P=0.002), self-rating health status ( WMD=12.59, 95% CI: 7.36-17.82, P<0.001), years of care ( WMD=-3.04, 95% CI: -5.15--0.93, P=0.005), length of daily care ( WMD=-4.17, 95% CI: -5.24--3.10, P<0.001) and social support levels ( WMD=-7.20, 95% CI: -10.49--3.91, P<0.001) . Conclusions:The care burden of family caregivers of the disabled elderly is widespread. The degree of disability, cognitive function of the elderly, the occupational status, self-assessed health status, years of care, length of daily care and social support level of the caregivers are the main influencing factors of care burden. Individualized interventions should be tailored to modifiable influencing factors to reduce the burden on caregivers and improve the quality of life of the disabled elderly.

Objective To evaluate the effect of modified corticotomy on periodontal parameters in the treatment of Class Ⅲ surgical patients facilitated by accelerated osteogenic orthodontics.Methods Nine Class Ⅲ surgical patients at the age of 18-30 (7 females and 2 males) who were systematically and periodontally healthy were involved in the study,including 72 teeth and 216 sites.The modified corticotomy (piezotome) and bone graft (tricalcium phosphate,TCP) in maxillary anterior area were conducted after aligning and leveling the dental arch to facilitate the closing of space in upper dentition.Measurements such as plaque index (PLI),probing depth (PD),bleeding index (BI),recession (REC),keratinized gingiva width (KEG),biotype (BIO) were recorded pre-operation,1,2,4 and 8 weeks post-operation.Results The differences of PD,BI and REC before and after operation were not statistically significant (P ＞ 0.05).The median value of PLI before and after operation was 0.The percentage of thin biotype and thick biotype teeth was 74％(53/72) and 26％(19/72) pre-operation respectively.The difference of KEG between pre-operation[(5.1 ± 1.4) mm] and 8 weeks post-operation [(5.1 ± 1.2) mm] was not statistically significant(P =0.658),but the mean value of KEG in other post-operation groups [1 week:(5.7 ± 1.3)mm,2 weeks:(5.8 ± 1.3) mm,4 weeks:(5.6 ± 1.4) mm] was significantly higher than those of pre-operation(F =12.087,P =0.000).Conclusions Modified corticotomy in the treatment of Class Ⅲ surgical patients facilitated by accelerated osteogenic orthodontics is safe to periodontium.

Objective: To compare the clinical efficacies of subgingival glycine air polishing and ultrasonic scaling combined with 0.12% chlorhexidine rinsing on patients with early peri-implant diseases (peri-implant mucositis and early peri-implantitis). Methods: Twenty-two systemically healthy patients with totally 42 implants and early peri-implant diseases, were recruited in this study. The patients were randomly divided into the test group and the control group. Patients in the test group were treated with subgingival glycine air polishing and patients in the control group were treated with ultrasonic scalers combined with 0.12% chlorhexidine rinsing. Periodontal parameters such as probing depth, bleeding index, plaque index and clinical attachment loss, at baseline and 2 months after treatment, respectively, were collected and compared between the test and control groups. Results: For the natural teeth, the parameters of probing depth, bleeding index, plaque index and attachment loss in the two groups were significantly improved after treatments (medians were 0.48 mm vs 0.22 mm, 1.00 vs-0.13, 0.38 vs 0.50, 0.48 mm vs 0.22 mm, respectively for test and control group). There was no statistical difference of median between the two groups after treatment except for that of the attachment loss (medians, 0.48 mm vs 0.22 mm, P=0.034). For the implants, differences of parameters in the two groups at baseline were insignificant. After treatments, the probing depths significantly decreased by 0.67 mm and 0.33 mm in the test group and the control group, respectively. The inter-group differences, however, were insignificant. Significant difference of the bleeding index after treatment was found in the test group (P=0.019), but not in the control group. No adverse reactions were found on patients in the two groups after treatments. Conclusions Efficacy of subgingival glycine air polishing and ultrasonic scaling combined with 0.12% chlorhexidine rinsing is competitive on patients with early peri-implant diseases. However, the former treatment may be more effective oncontrolling the early peri-implant inflammation.