Histopathologic and Biochemical Evidence for Mitochondrial Disease Among 279 Patients with Severe Statin Myopathy.

Background: Statins have well-known benefits in the prevention of cardiovascular disease, however, 7-29% of patients develop muscle side effects and up to 0.5% develop severe symptoms. Mitochondrial dysfunction has been associated with severe statin-induced myopathy (SM); however, there is a paucity of systematic studies in affected individuals.

Regulatory T Cells Promote Myositis and Muscle Damage in Toxoplasma gondii Infection.

The coordination of macrophage polarization is essential for the robust regenerative potential of skeletal muscle. Repair begins with a phase mediated by inflammatory monocytes (IM) and proinflammatory macrophages (M1), followed by polarization to a proregenerative macrophage (M2) phenotype. Recently, regulatory T cells (Tregs) were described as necessary for this M1 to M2 transition.

Phytosterols ameliorate clinical manifestations and inflammation in experimental autoimmune encephalomyelitis.

Introduction: Using experimental autoimmune encephalomyelitis (EAE), an animal model for multiple sclerosis (MS), the objective of this study was to examine the effect of phytosterol (PS) administration on inflammation-based EAE development.

Methods: Female SJL mice were orally administered PS prior to disease induction and maintained throughout the experiment. EAE was induced with antigenic peptide (PLP(131-155)).

Hyaline inclusion myopathy: unmasked by statin therapy.

We report a case of a patient with history of alcohol abuse, treatment for hepatitis C and repeated strenuous physical activity who developed severe muscle pain and weakness during statin therapy. The symptoms persisted after discontinuation of the drug. The diagnosis of myopathy was made clinically and by electromyography.

Histogenesis of retinal dysplasia in trisomy 13.

Background: Although often associated with holoprosencephaly, little detail of the histopathology of cyclopia is available. Here, we describe the ocular findings in a case of trisomy 13 to better understand the histogenesis of the rosettes, or tubules, characteristic of the retinal dysplasia associated with this condition.

Methods: A full pediatric autopsy was performed of a near term infant who died shortly after birth from multiple congenital anomalies including fused facial-midline structures.

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.

Corticobasal syndrome (CBS) is a rare cognitive and movement disorder characterized by asymmetric rigidity, apraxia, alien-limb phenomenon, cortical sensory loss, myoclonus, focal dystonia, and dementia. It occurs along the clinical spectrum of frontotemporal lobar degeneration (FTLD), which has recently been shown to segregate with truncating mutations in progranulin (PGRN), a multifunctional growth factor thought to promote neuronal survival. This study identifies a novel splice donor site mutation in the PGRN gene (IVS7+1G-->A) that segregates with CBS in a Canadian family of Chinese origin.