Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis

BackgroundPallister-Killian syndrome (PKS) is a rare disorder caused by the mosaic tetrasomy of chromosome 12p, and is characterized by facial dysmorphism, developmental delay, hypotonia and seizures.ResultsWe report a patient with PKS showing unique polymicrogyria with calcification. He had delayed development and dysmorphic facial features including frontal bossing, hypertelorism, and high arched palate at 6 months of age. Neuroimaging revealed unilateral polymicrogyria with spot calcifications, which predominantly affected the right perisylvian region. Chromosome G-banding showed the karyotype 46,XY, however, array-based comparative genomic hybridization analysis showed mosaic duplication of chromosome 12p, in which CCND2, which encodes cyclin D2 and is a downstream mediator of PI3K-AKT pathway, is located. Supernumerary chromosome of 12p was detected in 58% of buccal mucosa cells by the interphase fluorescence in situ hybridization analysis using chromosome 12 centromere-specific D12Z3 probe. The diagnosis of PKS was made based on distinctive clinical features of our patient and the results of cytogenetic analyses.ConclusionThis report is, to our knowledge, the first case of a patient with PKS who clearly demonstrates polymicrogyria colocalized with calcifications, as shown by CT scans and MRI, and suggests that a patient with PKS could show structural brain anomalies with calcification. We assume that somatic mosaicism of tetrasomy could cause asymmetrical polymicrogyria in our patient, and speculate that increased dosages of CCND2 at chromosome 12p might be involved in the abnormal neuronal migration in PKS.     

双源CT评估冠状动脉钙化与病理诊断符合度

目的　以病理诊断为标准评价双源CT增强扫描定性和定量冠状动脉钙化斑块的准确性。 方法　采用双源CT对离体冠状动脉进行0.6 mm层厚横断面增强扫描,将CT值＞130 HU的斑块定性为钙化斑块,依据钙化斑块在管壁横断面上的弧度将其分为3型：轻度钙化、中度钙化和重度钙化。计算钙化斑块导致的冠状动脉狭窄,并与病理分型和所测冠状动脉狭窄进行对比。 结果　病理切片发现钙化斑块69个,DSCT发现57个,双源CT检测轻度、中度和重度钙化斑块的敏感性分别为88.3%、100%和100%。与病理诊断结果相比,双源CT高估了轻度、中度和重度钙化斑块导致的冠状动脉狭窄程度,分别相差（3.2±2.0）%、（4.9±4.7）%和（14.7±8.2）%,P<0.05。 结论　双源CT增强扫描能够检测定性不同类型的冠状动脉钙化;与病理对比,双源CT高估了钙化斑块导致的冠状动脉狭窄程度较严重。     

Guided Endodontics: Use of a Sleeveless Guide System on an Upper Premolar with Pulp Canal Obliteration and Apical Periodontitis

Guided endodontics has been used for the treatment of anterior teeth with a successful outcome. This approach is not only limited to anterior teeth because it can also be used for the treatment of premolars and molars. However, in such cases, space may be a limitation because a long bur has to be used in addition to the guide being placed on top of the teeth. The aim of this case report was to present a novel guided endodontics technique using a sleeveless 3-dimensional–printed guide. This design can reduce vertical space, allowing an open view of the tooth and irrigation during drilling. A 46-year-old female patient consulted the endodontic department with intermittent pain around tooth #5. Tooth #5 presented pain upon percussion and responded negative to a cold test. The initial periapical radiograph revealed an apical radiolucency with pulp canal obliteration. Clinically, there was no sinus tract. The tooth was diagnosed with pulp necrosis and symptomatic apical periodontitis. Guided endodontic treatment was performed with a sleeveless 3-dimensional–printed guide and long neck carbide bur with a head diameter of 1 mm to drill a minimally invasive access cavity up to the root canal. A completely healed apical area of tooth #5 was visible after 1 year on periapical radiographs. This technique seems to be a promising alternative in comparison with the conventional guided endodontic guide design for the negotiation of pulp canal obliteration in cases in which vertical space is limited.     

Access to original canal trajectory after deviation and perforation with guided endodontic assistance

Procedural accidents are eventualities that may occur during endodontic treatment because of lack of attention to detail or even unforeseeable situations. Knowledge of the root canal anatomy and its variations is a prerequisite for successful endodontic treatment. This case report describes an endodontic treatment where there was an intercurrence, generating deviation and perforation, which was solved with the aid of guided endodontics. A 37 years old, ASA1, was referred to the clinic for localisation and treatment of a calcified canal of the second right upper premolar. The tomographic images revealed the presence of only one canal and deviation with apical perforation. With the help of CBCT and CAD/CAM, it was possible to perform the guided access technique even after deviation and root perforation. Once again, this technique proved to be safe and predictable, allowing for a favourable prognosis in the long term.     

慢性肾脏病3~5期患者冠状动脉钙化危险因素分析及其与铁代谢指标的相关性

目的探讨慢性肾脏病(chronic kidney diseases,CKD)3~5期患者冠状动脉钙化(coronary artery calcification,CAC)的危险因素以及铁代谢指标与CAC相关性。方法纳入安徽医科大学第二附属医院CKD 3~5期患者162例,收集临床资料及实验室指标,检测血清铁、铁蛋白、转铁蛋白、总铁结合力(total iron-binding capacity,TIBC),计算转铁蛋白饱和度(transferrin saturation,TSAT),铁蛋白>800μg/L和(或)TSAT>50%定义为铁超载。采用多层螺旋计算机断层扫描测定冠状动脉钙化积分(coronary artery calcification score,CACs),CACs>10为钙化组。分析CAC危险因素及其与铁代谢指标的相关性,探讨危险因素对CAC的预测价值。结果合并CAC的患者92例,占56.8%。转铁蛋白、TIBC与CACs负相关(r值分别为-0.293、-0.253,P值分别为<0.001、0.001)。二元Logistic回归分析显示高龄(OR=1.050,95%CI:1.013~1.088,P=0.007)、糖尿病(OR=4.712,95%:CI:1.445~15.371,P=0.010)、高中性粒细胞与淋巴细胞比值(neutrophil-lymphocyte,NLR)(OR=1.253,95%CI:1.025~1.533,P=0.028)、高血磷(OR=3.981,95%CI:1.791~8.849,P=0.001)以及转铁蛋白水平降低(OR=0.130,95%CI:0.044~0.378,P<0.001)是CAC的独立危险因素。ROC曲线显示,年龄、糖尿病、NLR、血磷、转铁蛋白联合预测CAC的曲线下面积为0.828(95%CI 0.766~0.891,P<0.001),灵敏度为79.3%,特异度为75.7%。结论CKD3~5期患者CAC发生率较高,高龄、糖尿病、高磷血症、高NLR和血转铁蛋白水平减低是CAC的独立危险因素,以上危险因素的联合指标对CAC的发生有较好的预测价值。     

群组管理干预对维持性血液透析患者的影响

目的:探讨群组管理干预对维持性血液透析(MHD)患者营养状态、血管钙化及生活质量的影响。方法:将2018年4月1日~2019年6月1日收治的86例MHD患者为研究对象,按照随机数字表法分为干预组和对照组各43例。对照组给予常规护理干预,干预组在对照组基础上给予群组管理干预。比较两组干预前及干预3个月后营养状态[采用营养不良炎症评分表(MIS)、测量三头肌皮褶厚度(TSF)、上臂周径(MAC)]、血管钙化情况[检测人成纤维细胞生长因子(FGF-23)、胎球蛋白-A(Fetuin-A)]、心理状态[采用康奈尔医学指数量表(CMI)]和生活质量[采用血液透析患者生活质量量表(KDQ-SF)]。结果:干预3个月后,两组MIS评分、FGF-23水平、CMI评分均低于干预前(P<0.05),且干预组低于对照组(P<0.05);干预3个月后,两组TSF、MAC、Fetuin-A水平及KDQ-SF评分均优于干预前(P<0.05),且干预组优于对照组(P<0.05)。结论:群组管理干预能够改善MHD患者营养状态和血管钙化情况,提升其生活质量,缓解负性情绪,从而改善患者心理状况。     

FGF23、sclerostin蛋白、fetuin-A与慢性肾脏病患者血管钙化的相关性研究

目的探讨成纤维细胞生长因子23(FGF23)、骨硬化蛋白(sclerostin蛋白)、胎球蛋白A(fetuin-A)与慢性肾脏病患者血管钙化的相关性。方法选取2018年2月至2020年2月该院诊治的200例慢性肾脏病患者,根据冠状动脉有无钙化分为观察组(102例)与对照组(98例),比较两组FGF23、sclerostin蛋白、fetuin-A水平,评估FGF23、sclerostin蛋白、fetuin-A诊断血管钙化的效能。其中,观察组根据冠状动脉钙化积分分为3组,每组34例,比较不同钙化组的FGF23、sclerostin蛋白、fetuin-A水平,以及分析血管不同钙化程度与FGF23、sclerostin蛋白、fetuin-A的相关性,以及评估FGF23、sclerostin蛋白、fetuin-A诊断血管重度钙化的效能。结果观察组患者FGF23、sclerostin蛋白水平高于对照组,而fetuin-A水平低于对照组(P<0.05)。受试者工作特征曲线分析显示,FGF23、sclerostin蛋白、fetuin-a的曲线下面积(AUC)分别为0.990、0.967、0.722(P<0.05)。在不同钙化组中,FGF23、sclerostin蛋白水平均为轻度钙化组<中度钙化组<重度钙化组,而fetuin-A水平为轻度钙化组>中度钙化组>重度钙化组,差异均有统计学意义(P<0.05)。Spearman相关分析显示,慢性肾脏病患者的血管钙化严重程度与FGF23、sclerostin蛋白呈正相关(P<0.05),与fetuin-A呈负相关(P<0.05)。血管重度钙化患者的FGF23、sclerostin蛋白、fetuin-A的AUC分别为0.917、0.926、0.749(P<0.05)。结论FGF23、sclerostin蛋白、fetuin-A水平与慢性肾脏病患者血管钙化的严重程度有关,可将以上指标作为临床诊断血管钙化的参考指标。     

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study

Objectives:

The aim of the present study was to analyse the mineralization pattern of enamel and dentin in patients affected by X-linked hypophosphatemic rickets (XLHR) using micro-CT (µCT), and to associate enamel and dentin mineralization in primary and permanent teeth with tooth position, gender and the presence/absence of this disease.

Methods:

19 teeth were collected from 5 individuals from the same family, 1 non-affected by XLHR and 4 affected by XLHR. Gender, age, tooth position (anterior/posterior) and tooth type (deciduous/permanent) were recorded for each patient. Following collection, teeth were placed in 0.1% thymol solution until µCT scan. Projection images were reconstructed and analysed. A plot profile describing the greyscale distance relationship in µCT images was achieved through a line bisecting each tooth in a region with the presence of enamel and dentin. The enamel and dentin mineralization densities were measured and compared. Univariate ANOVA and post hoc Tukey tests were used for all comparisons.

Results:

Teeth of all affected patients presented dentin with a different mineralization pattern compared with the teeth of healthy patients with dentin defects observed next to the pulp chambers. Highly significant differences were found for gray values between anterior and posterior teeth (p < 0.05), affected and non-affected (p < 0.05), as well as when position and disease status were considered (p < 0.05).

Conclusions:

In conclusion, the mineralization patterns of dentin differed when comparing teeth from patients with and without FHR, mainly next to pulp chambers where areas with porosity and consequently lower mineral density and dentin defects were found.     

Comparative Effects of Etelcalcetide and Maxacalcitol on Serum Calcification Propensity in Secondary Hyperparathyroidism: A Randomized Clinical Trial

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