Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database.

Background: Facial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic disorder impacting the mechanistic target of rapamycin (mTOR). Facial angiofibroma can bleed spontaneously, impair eyesight, and cause aesthetic disfiguration causing psychological and social stress. To date, there is little or no evidence on the demographics, and other TSC features associated with facial angiofibroma or the use of mTOR inhibitor for the management of facial angiofibroma.

Caring for Children With Tuberous Sclerosis Complex: What Is the Physical and Mental Health Impact on Caregivers?

Disease burden associated with tuberous sclerosis complex, a genetic disorder characterized by benign tumor growth including lesions in multiple organs, puts tremendous demands on families. This analysis examines the physical and mental health burden of tuberous sclerosis complex caregivers in the United States. An institutional review board-approved web-based survey of tuberous sclerosis complex caregivers collected information; descriptive analyses were conducted on age-based subgroups.

Tuberous sclerosis complex: a survey of health care resource use and health burden.

Purpose: Tuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance.

Methods: This analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States.

Results: A total of 676 TSC patients or caregivers responded.

The burden of subependymal giant cell astrocytomas associated with tuberous sclerosis complex: results of a patient and caregiver survey.

Tuberous sclerosis complex is a genetic disorder characterized by benign tumor growth including lesions in the ventricular system of the brain known as subependymal giant cell astrocytomas. This analysis focuses on the clinical presentation, management, and associated burden of subependymal giant cell astrocytomas in patients with tuberous sclerosis complex in the United States. An institutional review board-approved web-based survey of tuberous sclerosis complex patients and caregivers collected information, and descriptive analyses were conducted on age-based subgroups.

Inflammation exacerbates seizure-induced injury in the immature brain.

We examined the hypothesis that the introduction of an inflammatory agent would augment status epilepticus (SE)-induced neuronal injury in the developing rat brain in the absence of an increase in body temperature. Postnatal day 7 (P7) and P14 rat pups were injected with an exogenous provocative agent of inflammation, lipopolysaccharide (LPS), 2 h prior to limbic SE induced by either lithium-pilocarpine (LiPC) or kainic acid. Core temperature was recorded during the SE and neuronal injury was assessed 24 h later using profile cell counts in defined areas of the hippocampus.