Genetic modifiers modulate phenotypic expression of tafazzin deficiency in a mouse model of Barth syndrome.

Barth syndrome is an X-linked disorder caused by loss-of-function mutations in Tafazzin (TAZ), an acyltransferase that catalyzes remodeling of cardiolipin, a signature phospholipid of the inner mitochondrial membrane. Patients develop cardiac and skeletal muscle weakness, growth delay and neutropenia, although phenotypic expression varies considerably between patients. Taz knockout mice recapitulate many of the hallmark features of the disease.

A new murine model of Barth syndrome neutropenia links TAFAZZIN deficiency to increased ER stress-induced apoptosis.

Barth syndrome is an inherited X-linked disorder that leads to cardiomyopathy, skeletal myopathy, and neutropenia. These symptoms result from the loss of function of the enzyme TAFAZZIN, a transacylase located in the inner mitochondrial membrane that is responsible for the final steps of cardiolipin production. The link between defective cardiolipin maturation and neutropenia remains unclear.

Membrane potential (V) measurements during mesenchymal stem cell (MSC) proliferation and osteogenic differentiation.

Background: Electrochemical signals play an important role in cell communication and behavior. Electrically charged ions transported across cell membranes maintain an electrochemical imbalance that gives rise to bioelectric signaling, called membrane potential or V. V plays a key role in numerous inter- and intracellular functions that regulate cell behaviors like proliferation, differentiation and migration, all playing a critical role in embryonic development, healing, and regeneration.

Inconsistent diagnostic criteria for convergence insufficiency.

Background: Convergence insufficiency (CI) is a common entity but seems to be an ill-defined diagnosis that incorporates many near-vision symptoms. The current literature often varies in its criteria for diagnosis. Without a clear definition and standardization of the clinical examination, there is the potential for misdiagnosis and/or the inclusion of other diagnoses as CI.

Personalized Prognosis of Uveal Melanoma Based on Cytogenetic Profile in 1059 Patients over an 8-Year Period: The 2017 Harry S. Gradle Lecture.

Purpose: To determine the personalized rate of uveal melanoma-related metastasis on the basis of individual tumor cytogenetic profile.

Design: Retrospective case series.

Participants: A total of 1059 patients with uveal melanoma.