نتایج جستجو برای: tuberous sclerosis complex
تعداد نتایج: 844439 فیلتر نتایج به سال:
BACKGROUND Rhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually r...
Tuberous sclerosis is a rare disease and pulmonary manifestations are extremely rare. Like pulmonary lymphangioleiomyomatosis, tuberous sclerosis of the lung affects only women of childbearing age and carries a very poor prognosis. The radiological and pathological features of the two conditions in the lung are indistinguishable and some authors therefore consider lymphangioleiomyomatosis to be...
What are the clinical features, severity, and rate of progression of lung disease in women with tuberous sclerosis and lymphangioleiomyomatosis (LAM) and how do they differ from patients with sporadic LAM? Data from 94 tuberous sclerosis/LAM and 460 sporadic LAM women were compared. 40 tuberous sclerosis/LAM and 40 sporadic LAM patients were age- and lung function-matched, and changes in volume...
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure w...
Background: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of benign tumors in multiple organs and tissues, especially brain, kidneys, heart, lungs, skin. Brain lesions are frequently associated with cognitive deficits, neuropsychiatric disorders, learning disabilities, seizures. Seizures occur approximately 80% patients 30% to 60% them had West Syndrome...
BACKGROUND Chronic renal failure is rare in tuberous sclerosis, but its precise frequency is not known and treatment modalities have not been evaluated. METHODS A questionnaire was addressed to the 260 French dialysis centres and the characteristics of 65 patients with tuberous sclerosis and chronic renal failure were analysed. RESULTS In France the approximate prevalence of tuberous sclero...
Tuberous sclerosis is a rare genetic disease with autosomal dominant inheritance, associated with multiple hamartomas in several organs, such as the brain, skin, lung, kidney, heart and eyes. The authors of this study report a case of a 30 years old female patient with tuberous sclerosis, presenting multiple angiofibromas on face treated with high frequency equipment (radiofrequency), and discu...
introduction a heart tumor in children is rare and the most primary tumor of the heart is rhabdomyoma. we report a case of cardiac mass diagnosed at 32th weeks of pregnancy while the mother had gestational diabetes mellitus. serial echocardiography revealed regression of the tumor; then follow up of the patient confirmed tuberous sclerosis.
TSC1 (tuberous sclerosis complex 1) encoding hamartin and TSC2 encoding tuberin are tumor suppressor genes responsible for the autosomal dominantly inherited disease tuberous sclerosis. These genes have been demonstrated to negatively regulate cell cycle progression, the activity of cdk2, and the degradation of the cyclin-dependent kinase inhibitor p27. To date, the underlying molecular mechani...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید