Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.

Background: Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.

Case Presentation: Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature.

[Clinical features and mutations of children with achondroplasia].

Objectives: To study the clinical features and fibroblast growth factor receptor 3 () gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.

Methods: A retrospective analysis was performed on the clinical data and gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.

Results: Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17).

Root Canal Morphology of Mandibular Incisors with Double Root Canals in a Chinese Population.

Objective: To investigate the bilateral symmetry of double root canals, variation in root canal bifurcation and position of canal orifices in mandibular incisors in a Chinese population.

Methods: A total of 149 subjects with mandibular incisors with two canals were selected from 866 patients based on CBCT images and divided into three groups: group 1 (< 21 years), group 2 (21-40 years) and group 3 (> 40 years). The prevalence of bilateral symmetry of double root canals (type III and type V), the distance between the cementoenamel junction (CEJ) and the bifurcation (D1) and the distance between the two canal orifices (D2) were calculated and analysed.

[A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].

Objective: To study the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy (BMD)/Duchenne muscular dystrophy (DMD) so as to provide a theoretical basis for disease management, gene therapy, and prenatal diagnosis.

Methods: A retrospective analysis was performed for the clinical data and gene detection results of 52 children with BMD/DMD. Multiplex ligation-dependent probe amplification (MLPA) was used to detect the DMD gene.

Down-regulated miR-448 relieves spinal cord ischemia/reperfusion injury by up-regulating SIRT1.

MicroRNAs play a crucial role in the progression of spinal cord ischemia/reperfusion injury (SCII). The role of miR-448 and SIRT1 in SCII was investigated in this study, to provide further insights into prevention and improvement of this disorder. In this study, expressions of miR-448 and SIRT1 protein were determined by qRT-PCR and western blot, respectively.

[Cone-beam computed tomography analysis of root canal configuration of 4 674 mandibular anterior teeth].

Objective: To investigate the root canal configuration of mandibular anterior teeth with cone-beam computed tomography (CBCT).

Methods: The CBCT imaging data of 866 patients who visited Peking University School of Stomatology from October 2012 to July 2013 were inspected by an endodontist anda radiologists together. A total of 4 674 mandibular anterior teeth were involved.

[Effect of cementation on fracture toughness of chair-side CAD/CAM ceramic].

Objective: Chair-side CAD/CAM ceramic restorations are esthetic with a time-saving procedure. However, ceramic restorations often failed due to fracture. This study was to investigate the effect of cement thickness on fracture toughness and hardness of CAD/CAM ceramic.