نتایج جستجو برای: tuberous sclerosis complex

تعداد نتایج: 844439  

2010

Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...

Journal: :Chang Gung medical journal 2004
Cheng-Han Chao Chin-Yew Lin Siu-Cheung Chan Kuo-Su Chen

Angiomyolipoma of the liver or kidney is one of the clinical manifestations of tuberous sclerosis complex. However, concurrence of angiomyolipoma in both liver and kidney associated with tuberous sclerosis complex is a rare entity. Renal angiomyolipomas with large aneurysms confer a higher probability of rupture as compared to small aneurysms. Herein, we document a case of tuberous sclerosis co...

ژورنال: بیهوشی و درد 2017

Aims and background: Tuberous sclerosis is an autosomal dominant disease characterized by hamartomas lesions in multiple organs. This article reports the case with tuberous sclerosis candidate femur surgery that was performed under general anesthesia without any  problem. case report: The patient was a 44 years old man with a weight of 48 kg and  height of 162 cm, known case tuberous sclerosis ...

ژورنال: پوست و زیبایی 2010
احسانی, امیر هوشنگ, مرادی, عطا‌الله, نورمحمدپور, پدرام,

Tuberous sclerosis complex is a genetic disorder characterized by hamartoma formation in many organs. Its characteristic dermatologic manifestations include angiofibroma, shagreen patch, periungual fibroma and white macules. This disorder is usually accompanied by epilepsy and mental deficiency. Here, a 26-year-old man is presented who has been referred to a teaching hospital with a huge facial...

Journal: :Genes & development 2008
Jill Wildonger Lily Yeh Jan Yuh Nung Jan

Neuronal function depends on the specification of neuronal processes as axons or dendrites. In this issue of Genes & Development Choi and colleagues (2485-2495) show that without Tuberous Sclerosis Complex 1 (Tsc1) or Tsc2, molecules linked to the autosomal dominant disease tuberous sclerosis, an increase in the activity of the translational regulator Target of Rapamycin 1 (TORC1) causes neuron...

Journal: :Journal of medical genetics 1996
R Vrtel S Verhoef K Bouman M M Maheshwar M Nellist A J van Essen P L Bakker C J Hermans M T Bink-Boelkens R M van Elburg M Hoff D Lindhout J Sampson D J Halley A M van den Ouweland

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.3. Clinical criteria for diagnosis have been established, but diagnosis of patie...

Journal: :African Journal of Urology 2023

Abstract Background Angiomyolipoma with epithelial cysts is a rare variant of an angiomyolipoma that typically occurs sporadically. Patients pre-existing kidney lesion or disease have significantly increased risk morbidity and mortality associated trauma. Abnormal diseased kidneys are frequently injured by low insignificant velocity impacts. The vulnerability these related to the type pathology...

2012
Mary Kay Koenig Adelaide A. Hebert Joan Roberson Joshua Samuels John Slopis Audrey Woerner Hope Northrup

BACKGROUND AND OBJECTIVES Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates that rapamycin may be successful in alleviating the appearance of these lesions. The objectives of the current study were to evaluate the safet...

Journal: :journal of lasers in medical sciences 0
mohammad asnaashari department of endodontic, school of dentistry, shahid beheshti university of medical sciences, tehran, iran saranaz azari-marhabi department of oral medicine, school of dentistry, shahid beheshti university of medical sciences, tehran, iran somayeh alirezaei department of oral medicine, school of dentistry, shahid beheshti university of medical sciences, tehran, iran nikoo asnaashari laser application in medical sciences research center, shahid beheshti university of medical sciences, tehran, iran

introduction: several treatment options have been introduced for removal of gingival hyperplasic lesions, but using diode lasers have many advantages such as less bleeding, time saving, better shaping, improved healing and less complication for the patients. case: a 15-year-old girl with multiple fibroma-like lesions in the oral cavity, who had a medical history of tuberous sclerosis, was selec...

Journal: :Indian journal of clinical cardiology 2021

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac marked the presence of multiple rhabdomyomas some cases arrhythmias. In absence symptoms, require no specific treatme...

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