[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].

Objective: Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants. Methods: In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2. Results: We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients. Conclusion: Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.

[Effects of thermal cycling on mechanical properties of resin-ceramic composites].

Objective: To investigate the influence of thermal cycling on the mechanical properties of resin-ceramic composites. Methods: The different groups of resin-ceramic composites A (Lava Ultimate, 3M ESPE, USA), B (block HC, Shofu, Japan), C (Hyramic, Upcera, China), D (Vita Enamic, Vita, German), and the feldspar ceramic E (Mark Ⅱ, Vita, German) were included in this study. The properties of these groups (with 30 samples in each group), including flexural strength, flexural modulus and Vickers hardness were tested before and after thermal cycling (0, 10 000 and 20 000 cycles, respectively). The data were statistically analyzed. Results: Before thermal cycling, the flexural strength of groups A, B and C [(166.28±13.78) MPa, (170.21±11.36) MPa and (202.04±16.55) MPa] were higher than those of groups D and E [(137.09±8.83) MPa and (119.35±5.98) MPa], and the flexural modulus [(62.39±3.40) GPa] and Vickers hardness [(406.97±14.73) HV] of E group were higher than those of other groups (P<0.05). The flexural strength, flexural modulus and Vickers hardness of groups D and E did not change after thermal cycling (all P>0.05), while those of groups A, B and C decreased (all P<0.05). Conclusion: After thermal cycling, the mechanical properties of the A, B and C groups decreased, while those of the groups D and E were stable.

Association between the interleukin-1ß C-511T polymorphism and periodontitis: a meta-analysis in the Chinese population.

The association between the interleukin-1 beta (IL-1ß) C-511T (or rs16944) polymorphism and periodontitis remains inconclusive, even though there have been previous studies on this association. To assess the effects of IL-1ß C-511T variants on the risk of development of periodontitis, a meta-analysis was performed in a single ethnic population. Studies, published up to December 2015, were selected for the meta-analysis from PubMed and Chinese databases. The associations were assessed with pooled OR and 95%CI. This meta-analysis identified 8 studies, including 1276 periodontitis cases and 1558 controls. Overall, a significant association between the IL-1ß C-511T polymorphism and periodontitis was found in the Chinese population (TT vs CC: OR = 1.48, 95%CI = 1.19-1.85; TT + CT vs CC: OR = 1.50, 95%CI = 1.25-1.81; T vs C: OR = 1.33, 95%CI = 1.06-1.68). In the subgroup analyses based on geographical area(s), source of controls, and type of periodontitis, significant results were obtained for the association between IL-1ß C-511T variants and periodontitis. Our meta-analysis indicated that the IL-1ß C-511T polymorphism may be a genetic susceptibility factor for periodontitis in the Chinese population. This marker could be used to identify Chinese individuals at a high risk for periodontitis.

Learning curve in measurement of fetal frontomaxillary facial angle at 11-13 weeks of gestation.

OBJECTIVE: To determine the number of ultrasound examinations required to train sonographers to accurately measure the fetal frontomaxillary facial (FMF) angle at 11-13 weeks of gestation. METHODS: Eight sonographers accredited for nuchal translucency thickness (NT) measurement (and with different levels of experience) were trained to measure the fetal FMF angle using specially acquired three-dimensional (3D) volumes. Training was provided in cycles, and each cycle consisted of a training period on 20 randomly selected cases followed by an examination using 10 randomly selected cases. During training, the sonographer was informed of the true FMF angle value after each FMF angle measurement on a case-by-case basis. During examination, the difference between the measured and the true values of the FMF angle (i.e. the delta angle) was calculated. A measurement was considered accurate if the delta angle was less than 5 degrees . The sonographer was considered to be competent and the training finished if all 10 examination cases satisfied this criterion. Otherwise, the sonographer would undergo further cycles of training-examination, until he/she became competent. RESULTS: The number of training cases required for a sonographer to become competent was 40 for two sonographers, 60 for one, 80 for one, 100 for two, 120 for one and 140 for one, with a median of 90. The median number of failed cases reduced from 2.5 (out of 10) at the first cycle to 0 by the 7(th) cycle. As training cycles increased, the mean angle deviation and measurement time required both reduced significantly. The average delta angle of the passing examination cycle was 2.06 +/- 1.40 degrees . The number of training cases required to become competent in FMF angle measurement was 40 for the two most experienced trainees and 80, 120 and 140 for the three least experienced ones. CONCLUSIONS: We have demonstrated that competence in FMF angle measurement was achieved after a median number of 90 cases, with a range of up to 140. The number required was substantially lower, at 40 cases, among those with extensive experience of NT measurement.

Cardiac cephalalgia: case reports and review.

Diagnosis of myocardial infarction or acute coronary syndrome is difficult, especially in atypical presentation at an emergency department, and sometimes results in serious legal issues. Symptoms of atypical presentation include shortness of breath, dyspnoea on exertion, toothache, abdominal pain, back pain and throat pain. As of now, reports of a headache, especially exertional headache, as the only presentation of acute cardiac ischaemia are rare and only have case reports. We present two patients with a cardiac source of headache and analyse 32 patients with similar situations from MEDLINE search from 1966 to the present. Cardiac cephalalgia is benign in general, but potential risks for death should be considered. If the patient has increased risk of atherosclerosis with exertional headache, anginal headache should be highly suspected and further work-up should be undertaken.

[Expression of secreted frizzled-related protein-1 in patient with oral submucous fibrosis].

Objective: To investigate the concentrations and clinical significance of secreted frizzled-related protein-1(SFRP1) insaliva and gingival crevicular fluid of patients with oral submucous fibrosis (OSF) as well as the expression of SFRP1 in patients' OSF buccal mucosa. Methods: Twenty OSF patients aged 20 to 40 years old were recruited and randomly divided into two experimental groups, of which were triamcinolone acetonide group and combined triamcinolone acetonide and salvia miltiorrhiza group, respectively. Ten healthy volunteers matchable in sex and age with the patients were recruited as control group. Concentrations of SFRP1 in saliva and gingival crevicular fluid were detected by enzyme-linked immunosorbent assay before and after a continuous treatment of 4 weeks. The visual analogue scale(VAS) pain scores and opening size were also recorded. The expression of SFRP1 in samples from OSF patients' buccal mucosa was also detected using immunohistochemical method. SPSS 16.0 was applied to analyze the results of the experiments. Results: The concentrations of SFRP1 in saliva and gingival crevicular fluid before treatment were (105.8±27.6) ng/L and (84.7±33.2) ng/L in triamcinolone acetonide group, and (86.6±23.2) ng/L and (97.0±23.2) ng/L in combining group, which were both significantly lower(P<0.01) than that in normal group([153.0±32.8] ng/L and [157.5±31.1] ng/L), respectively. The positive expression rate of SFRP1 in OSF group(10%[2/20]) was significantly lower than that of the control group(10/10)(P<0.01). After the treatment for 4 weeks, the concentrations of SFRP1 increased to (141.2±35.3) ng/L and (130.6±31.3) ng/L in triamcinolone acetonide group, and to (148.5±65.9) ng/L and (123.0±27.4) ng/L in combining group, which were both significantly higher than those of pre-treatment, respectively(P<0.01). Conclusions: The concentrations of SFRP1 in saliva and gingival crevicular fluid of OSF patients, which positively corelated to the expression of SFRP1 in OSF patients' buccal mucosa, were significantly lower than that of normal individuals and increased significantly after treatments of local injections of triamcinolone acetonide only or combined with salvia miltiorrhiza.