Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent-reported measures.

Background: This study aims to explore the association between the quality of life (QoL) in children with Down syndrome (DS) and its relationship with demographic characteristics of both parents and children. The investigation encompasses five domains: physical and psychological well-being, autonomy and parental relationship, social well-being, and peers, as well as school and the learning environment.

Method: An online questionnaire, the KIDSCREEN-27, was used to measure the QoL of 112 families with DS in Saudi Arabia, referred to as "Parent-Reported Measures.

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Papillon-Lefevre syndrome (PALS) is a rare, autosomal recessive disorder characterized by periodontitis and hyperkeratosis over the palms and soles. Mutations in the cathepsin C gene (CTSC) have been recognized as the cause of PALS since the late 1990s. More than 75 mutations in CTSC have been identified, and phenotypic variability between different mutations has been described.

A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.

Objectives: The present study aimed to identify the genetic cause of non-syndromic primary failure of tooth eruption in a five-generation consanguineous Saudi family using whole-exome sequencing (WES) analysis.

Design: The family pedigree and phenotype were obtained from patient medical records. WES of all four affected family members was performed using the 51 Mb SureSelect V4 library kit and then sequenced using the Illumina HiSeq2000 sequencing system.

Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.

Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Diagnostic approaches for this condition include clinical evaluations and electron microscopy of patients' skin biopsies, followed by Sanger sequencing (SS) of a large gene (118 exons) that encodes the alpha chain of type VII collagen (COL7A1) located on Chromosome 3p21.1.

Effect of lip position and gingival display on smile and esthetics as perceived by college students with different educational backgrounds.

Aim: The aim of this study was to evaluate the influence of education on the perception of female college students on the effect of lip position and gingival display upon smiling and esthetics.

Methods: A photograph of a smiling subject was altered to show varying degrees of gingival display. Female students, who were studying in different colleges, assessed a total of five images, using a numerical rating scale.

Three-dimensional reconstruction of fracture callus morphogenesis.

Rat and mouse femur and tibia fracture calluses were collected over various time increments of healing. Serial sections were produced at spatial segments across the fracture callus. Standard histological methods and in situ hybridization to col1a1 and col2a1 mRNAs were used to define areas of cartilage and bone formation as well as tissue areas undergoing remodeling.

Enhancement of experimental fracture-healing by systemic administration of recombinant human parathyroid hormone (PTH 1-34).

Background: Recombinant human parathyroid hormone (PTH [1-34]; teriparatide) is a new treatment for postmenopausal osteoporosis that can be systemically administered for the primary purpose of increasing bone formation. Because several studies have described the enhancement of fracture-healing and osteointegration in animals after use of PTH, we sought to critically analyze this skeletal effect.

Methods: Two hundred and seventy male Sprague-Dawley rats underwent standard, closed femoral fractures and were divided into three groups that were administered daily subcutaneous injections of 5 or 30 mug/kg of PTH (1-34) or vehicle (control).

Effects of acid hydrolysis and mechanical polishing on surface residual stresses of low-fusing dental ceramics.

Statement Of Problem: Cracks may arise in a ceramic restorative material over time, resulting in sudden fractures at stresses well below the yield stress.

Purpose: This study evaluated by means of indentation technique the effects of acid hydrolysis and mechanical polishing on the surface residual stresses of low-fusing ceramic materials.

Material And Methods: A total of 64 ceramic bars were formed to produce 4 groups of 16 bars each for 4 ceramic materials (Duceram-LFC Dentin, Duceram-LFC Enamel, Finesse Dentin, and Finesse Enamel).

Effects of the local mechanical environment on vertebrate tissue differentiation during repair: does repair recapitulate development?

The local mechanical environment is a crucial factor in determining cell and tissue differentiation during vertebrate skeletal development and repair. Unlike the basic response of bone to mechanical load, as described in Wolff's law, the mechanobiological relationship between the local mechanical environment and tissue differentiation influences everything from tissue type and molecular architecture to the formation of complex joints. This study tests the hypothesis that precisely controlled mechanical loading can regulate gene expression, tissue differentiation and tissue architecture in the adult skeleton and that precise manipulation of the defect's local mechanical environment can initiate a limited recapitulation of joint tissue development.