Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management
Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
NCCN guidelines insights: kidney cancer, version 1.2021: featured updates to the NCCN guidelines
The NCCN Guidelines for Kidney Cancer provide multidisciplinary recommendations for
diagnostic workup, staging, and treatment of patients with renal cell carcinoma (RCC) …
diagnostic workup, staging, and treatment of patients with renal cell carcinoma (RCC) …
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy
P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
[HTML][HTML] Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
H Northrup, DA Krueger, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …
findings. Disease manifestations continue to develop over the lifetime of an affected …
Neurological and neuropsychiatric aspects of tuberous sclerosis complex
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
Official American Thoracic Society/Japanese Respiratory Society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management
Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily
affects women. The purpose of these guidelines is to provide recommendations for the …
affects women. The purpose of these guidelines is to provide recommendations for the …
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …