Cardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre, St Georges University of London, London, United Kingdom.
Published: August 2020
AI Article Synopsis
Article Abstract
Research on tuberous sclerosis complex (TSC) to date has focused mainly on the physical manifestations of the disease. In contrast, the psychosocial impact of TSC has received far less attention. The aim of this study was therefore to examine the impact of TSC on health, quality of life (QoL), and psychosocial well-being of individuals with TSC and their families. Questionnaires with disease-specific questions on burden of illness (BOI) and validated QoL questionnaires were used. After completion of additional informed consent, we included 143 individuals who participated in the TOSCA (TuberOus SClerosis registry to increase disease Awareness) study. Our results highlighted the substantial burden of TSC on the personal lives of individuals with TSC and their families. Nearly half of the patients experienced negative progress in their education or career due to TSC (42.1%), as well as many of their caregivers (17.6% employed; 58.8% unemployed). Most caregivers (76.5%) indicated that TSC affected family life, and social and working relationships. Further, well-coordinated care was lacking: a smooth transition from pediatric to adult care was mentioned by only 36.8% of adult patients, and financial, social, and psychological support in 21.1, 0, and 7.9%, respectively. In addition, the moderate rates of pain/discomfort (35%) and anxiety/depression (43.4%) reported across all ages and levels of disease demonstrate the high BOI and low QoL in this vulnerable population.
The mechanistic target of rapamycin complex 1 (mTORC1) functions as a master regulator of cell growth and proliferation. We previously demonstrated that intracellular calcium ion (Ca) concentration modulates the mTORC1 pathway via binding of the Ca sensor protein calmodulin (CaM) to tuberous sclerosis complex 2 (TSC2), a critical negative regulator of mTORC1. However, the precise molecular mechanism by which Ca/CaM modulates mTORC1 activity remains unclear.
A 2-week-old, 2.6-kg neonate without tuberous sclerosis presented with a severe right ventricular outflow tract obstruction secondary to a large mass. Transthoracic echocardiography revealed a maximum right ventricular outflow tract gradient of at least 95 mmHg.
Lymphangioleiomyomatosis (LAM) is a cystic lung disease that primarily affects women. LAM is caused by the invasion of metastatic smooth muscle-like cells into the lung parenchyma, leading to abnormal cell proliferation, lung remodeling and progressive respiratory failure. LAM cells have TSC gene mutations, which occur sporadically or in people with Tuberous Sclerosis Complex.
Carly Hyde, University of California, Los Angeles; Logan Shurtz, University of Texas Southwestern Medical Center; Nicole McDonald, University of California, Los Angeles; Maria Pizzano, Loyola Marymount University; Charles A. Nelson, Boston Children's Hospital and Harvard Medical School; Elizabeth A. Thiele, Massachusetts General Hospital; Connie Kasari, University of California, Los Angeles; and Shafali Jeste, Children's Hospital Los Angeles.
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study.
Introduction And Significance: Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) is a rare renal tumor primarily associated with female patients and those with tuberous sclerosis complex (TSC). Despite lacking distinct clinical or radiological features, its unique histological characteristics allow for differentiation from other renal neoplasms. While it often exhibits indolent growth, metastatic potential remains a concern.
