Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.

Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the causes of DSDs allow genetic-mechanism identification in about 20-35% of cases.

New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies.

Collagenopathy is a rare genetic condition characterized by abnormality in either collagen structure or metabolism. Variations in its clinical presentations highlight diversity in the genetic causes and potential existence of concurrent mutations. Through whole exome sequencing (WES) complemented with multiplex ligation-dependent probe amplification, we identified the genetic etiologies for six cases with osteogenesis imperfecta (OI) in (p.

Topographic Analysis of the Isthmus in Mesiobuccal and Mesial Roots of First Molars in a South Korean Population.

The purpose of this study was to evaluate the incidence and microscopic anatomy of the isthmus to provide more precise anatomical information about the mesiobuccal (MB) roots of the maxillary first molars and the mesial (M) roots of the mandibular first molars. Twenty-eight maxillary and 31 mandibular first molars were embedded, sectioned, stained, and observed at 30× magnification to evaluate the incidence and microscopic anatomy of the isthmus. The incidence of an isthmus 3 mm from the apex was 89.

[Nursing Experience With Reconstructing Self-Control Using Rational-Emotive Behavior Therapy on a Patient With Schizophrenia and Obsessive-Compulsive Symptoms].

This case report describes a nursing experience caring for a patient with schizophrenia and obsessive-compulsive symptoms. This patient suffered from symptoms of being controlled, obsessive thoughts, and compulsive behaviors. In addition, the patient showed no interest in implementing strategies for dealing with anxiety, no motivation for changing this suffering, and an inability to receive a higher level of rehabilitative job training in daycare.

Rare Compound Heterozygous Frameshift Mutations in Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome.

Alström syndrome (AS) is a rare autosomal recessive disorder that shares clinical features with other ciliopathy-related diseases. Genetic mutation analysis is often required in making differential diagnosis but usually costly in time and effort using conventional Sanger sequencing. Herein we describe a Taiwanese patient presenting cone-rod dystrophy and early-onset obesity that progressed to diabetes mellitus with marked insulin resistance during adolescence.

A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.

Background: Patients with severe combined immunodeficiency (SCID), which is caused by genetic defects in immune-related genes involved in the development or activation of the adaptive immune system, often died in infancy due to severe infections before definite molecular diagnosis could be made. Although recent improvement in early diagnosis has been achieved by newborn screening, the genetic basis of many of the patients is still unknown.

Methods: Here we performed whole exome sequencing (WES) to investigate the underlying genetic causes of SCID in a proband identified with newborn screening.

Using a Visible Light-Polymerized Resin to Fabricate an Interim Partial Removable Dental Prosthesis.

An interim partial removable dental prosthesis (RDP) is any dental prosthesis that replaces some teeth in a partially dentate arch designed to enhance esthetics, stabilization, and/or function for a limited period of time, after which it is to be replaced by a definitive dental prosthesis. This article describes a technique that uses a visible light-polymerized (VLP) resin as the base material for an interim partial RDP. This technique can be easily accomplished in a dental office or laboratory and results in a predictable dental prosthesis.

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70-80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20-30% of cases is unknown. We performed next-generation sequencing on germ-line DNA from 27 NS patients lacking a mutation in the known NS genes.