tuberous sclerosis complex-2
Oncogenic effects of urotensin-II in cells lacking tuberous sclerosis complex-2
... Lymphangioleiomyomatosis (LAM) is a destructive lung disease that can arise sporadically or in adults suffering from the tumor syndrome tuberous sclerosis complex (TSC). Microscopic tumors (‘LAM ...
14
Tuberous Sclerosis Complex Protein 2-Independent Activation of mTORC1 by Human Cytomegalovirus pUL38
... amino acid-sensitive pathway and a growth factor-stimulated PI3K-Akt signaling pathway. Recent studies have investigated the amino acid-mediated signaling pathway leading to mTORC1 ac- tivation. Amino acids accumulated ...
11
Glucose deprivation in tuberous sclerosis complex-related tumors
... with 2-DG and/or a diet without ...of 2- DG and a “ Carb-free ” diet would induce a level of energy stress that would suppress tumor ...0.03% 2-DG by weight to the Western diet led to ~80% of mice ...
15
Risk factors for the development of autism spectrum disorder in children with tuberous sclerosis complex: protocol for a systematic review
... A standardised, pre-piloted form will be used to extract data from the included studies for assessment of quality and evidence synthesis. Extracted information will in- clude (1) number of participants; (2) source ...
6
Genetics of tuberous sclerosis complex: implications for clinical practice
... Genetic testing may be important for counseling and manage- ment of TSC patients. Although TSC is usually diagnosed on clinical criteria alone, results of genetic testing are now considered as major diagnostic criteria ...
8
Tuberous sclerosis complex: everything old is new again
... association with many organs of the body including brain, heart, kidney, skin and lung. Brain involvement however is most debilitating as intractable epilepsy, developmental delay and autism are seen in many patients. ...
9
Everolimus improved renal function without reducing the size of a kidney angiomyolipoma in a patient with tuberous sclerosis complex: a case report
... m 2 per year, and 16% of patients had stage > 3 chronic kidney disease (CKD) at some point during follow-up [1, ...m 2 at baseline (including 3 patients with a GFR < 30 mL/ min/1.73 m 2 at ...
6
An unusual case of congenital melanocytic nevus presenting as neurocutaneous melanoma coexisting with Tuberous Sclerosis complex: A case report
... In 1861, Rokitansky [8] first described NCM in a 14- year-old girl. CNM is a well-known risk factor for the eventual development of melanoma. CNM are classified as large ( ≥ 20 cm), medium (1.5 cm to 19.9 cm), and small ...
5
mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders
... Recent research in TSC has underlined the value of pur- suing targeted therapies based on underlying molecular pathophysiology. TSC serves as a model for modification of acquired and inherited genetic defects causing ...
9
Early manifestations of renal disease in patients with tuberous sclerosis complex
... 15 patients with a TSC2 mutation had both serum creatinine levels and height documented in the chart for appropriate eGFR calculation. Three of these patients had a low eGFR with two having mild renal impairment and one ...
5
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase
... The cases included in this study were obtained from the archives of the departments of neuropathology of the Academic Medical Center (University of Amsterdam) and the University Medical Center in Utrecht (UMCU). We ...
13
Coexistence of pulmonary lymphangioleiomyomatosis and pulmonary angiomyolipoma
... Lymphangioleiomyomatosis (LAM) is a rare, progressive disease that typically results in cystic lung destruction and predominantly affects women [1]. Angiomyolipoma is a mesenchymal tumor and is the most common benign ...
5
Cerebral Diffusion Tensor MR Tractography in Tuberous Sclerosis Complex: Correlation with Neurologic Severity and Tract Based Spatial Statistical Analysis
... assigned 2 points ...ⱖ 2 first-line antiepileptic medications, 1 sei- zure per month for 18 months, or freedom from seizures for fewer than 3 consecutive ...
7
Survivin Expression in Tuberous Sclerosis Complex Cells
... 15% heat-inactivated fetal bovine serum (FBS). C2C12 (mouse muscle myoblast) cells, CT/G vascular smooth muscle cells from human aorta (VSMCs), and A549 (human lung adenocarcinoma) cells were obtained from the American ...
12
Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants
... presented with either or both. Cardiac rhabdomyomas were seen on prenatal imaging in 35% of patients, and 3% met diagnostic criteria for TSC prenatally with brain involvement also seen on imaging (Fig 1). Of 12 infants ...
13
A Rare Highly Aggressive Tumor of the Kidney: The Pure Epithelioid Angiomyolipoma
... Renal epithelioid angiomyolipoma (EAML) has been recognized as a mesenchymal tumor in the 2004 World Health Organization classification of renal tumors [1], and a member of the family of PEComas [2], which may ...
5
Possible Prevention of Tuberous Sclerosis Complex Lesions
... Both sisters underwent comprehensive follow-up examinations at age 6 years, 3 months. Brain MRI revealed . 50% re- duction in SEGA volume in the treated child and stable SEGA volume in her nontreated sister. Kidney ...
6
Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex
... We confirmed that these tumors are seen at their highest frequency in very young children (66% in chil- dren ⬍ 2 years of age). In the majority of patients, there is partial (50%) or complete (18%) resolution of ...
8
Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial
... ≥ 2 as defined by the National Cancer Institute Common Terminology Criteria for Adverse Events, ver- sion ...berous sclerosis complex include hypomelanotic macules, the shagreen patch, periungual or ...
9
Clinical management of tuberous sclerosis complex over the lifetime of a patient
... Identified SENs and SEGAs develop from childhood through adolescence and have a similar histology, although SEGAs are differentiated by their larger size and serial growth. SEGAs occur in 5%–20% of patients with TSC; ...
8