The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

The Effect of High Intensity Interval Run Training on Cross-sectional Area of the Vastus Lateralis in Untrained College Students.

Aerobic cycling has been repeatedly shown to induce hypertrophy in skeletal muscle across a variety of populations, while there has been a lack of investigation into the impact of running upon hypertrophy. An increasingly popular model of aerobic exercise is high-intensity interval training (HIIT); in addition to its positive impact upon cardiovascular health, HIIT may be sufficient for inducing significant muscular hypertrophy. Therefore, the purpose of this investigation was to examine the influence of a high-intensity interval running protocol upon hypertrophy of the vastus lateralis in an untrained, young population.

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Current practice by clinical diagnostic laboratories is to utilize online prediction programs to help determine the significance of novel variants in a given gene sequence. However, these programs vary widely in their methods and ability to correctly predict the pathogenicity of a given sequence change. The performance of 17 publicly available pathogenicity prediction programs was assayed using a dataset consisting of 122 credibly pathogenic and benign variants in genes associated with the RASopathy family of disorders and limb-girdle muscular dystrophy.

"Open lung ventilation optimizes pulmonary function during lung surgery".

Background: We evaluated an "open lung" ventilation (OV) strategy using low tidal volumes, low respiratory rate, low FiO2, and high continuous positive airway pressure in patients undergoing major lung resections.

Materials And Methods: In this phase I pilot study, twelve consecutive patients were anesthetized using conventional ventilator settings (CV) and then OV strategy during which oxygenation and lung compliance were noted. Subsequently, a lung resection was performed.

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Campomelic dysplasia (CD) is a skeletal dysplasia characterized by Pierre Robin sequence (PRS), shortened and bowed long bones, airway instability, and the potential for sex reversal. A subtype of CD, acampomelic CD (ACD), is seen in approximately 10% of cases and preserves long bone straightness. Both syndromes are caused by alterations in SOX9, with translocations and missense mutations being overrepresented in ACD cases.