نتایج جستجو برای: tuberous sclerosis

تعداد نتایج: 65457  

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...

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: Cannabidiol (CBD) is a non-psychoactive substance of Cannabis sativa effective in refractory epilepsy due to Dravet syndrome, Lennox-Gastaut syndrome and Tuberous Sclerosis Complex, with few studies other etiologies. There are that show benefit the mutual use clobazam CBD.

2012
Makoto Ishii Koichiro Asano Nobufumi Kamiishi Yuichiro Hayashi Daisuke Arai Mizuha Haraguchi Hiroaki Sugiura Katsuhiko Naoki Sadatomo Tasaka Kenzo Soejima Koichi Sayama Tomoko Betsuyaku

UNLABELLED INTRODUCTION The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions. We report a rare case of tuberous sclerosis complex with no classical clinical findings, which was diagnosed through incidental computed tomography findings of multip...

2012
Seyed Seifollah Beladi-Mousavi Abbasali Zeraati Farzaneh Sharifipour Masih Naghibi Farnaz Kalani Sara Moussavinik Marzieh Beladi-Mousavi

INTRODUCTION Tuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas in different organs of body. Kidney involvement is quite common in this disorder and sometimes it is accompanied by adult polycystic kidney disease. CASE A 46-year-old woman who was being treated for adult polycystic kidney disease and systemic hypertension was admitted to this hospital because of ...

Journal: :Archives of disease in childhood 1992
A M Groves N L Fagg A C Cook L D Allan

Since 1980, 11 examples of cardiac tumour have been detected in the fetus out of a total of 794 congenital cardiac malformations. Patients were referred because of fetal hydrops in two, a family history of tuberous sclerosis in two, and because of the detection of a tumour mass during a scan at the local hospital in seven. The gestational age range at presentation was from 20-34 weeks. Of eight...

Journal: :Current Genomics 2008
Valerio Napolioni Paolo Curatolo

Tuberous Sclerosis Complex is a multisystem disorder exhibiting a wide range of manifestations characterized by tumour-like lesions called hamartomas in the brain, skin, eyes, heart, lungs and kidneys. Tuberous Sclerosis Complex is genetically determined with an autosomal dominant inheritance and is caused by inactivating mutations in either the TSC1 or TSC2 genes. TSC1/2 genes play a fundament...

2012
Seyyed Hassan TONEKABONI Seyyed Hassan Tonekaboni Parviz Tousi Ahmad Ebrahimi Farzad Ahmadabadi Zarrintaj Keyhanidoust Gholamreza Zamani Morteza Rezvani Susan Amirsalari Azita Tavassoli Alireza Rounagh Alireza Rezayi

OBJECTIVE Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic. MATERIALS & METHODS Based on the diagnostic criteria, ...

2017
Clévia Rosset Filippo Vairo Isabel Cristina Bandeira Rudinei Luis Correia Fernanda Veiga de Goes Raquel Tavares Boy da Silva Larissa Souza Mario Bueno Mireille Caroline Silva de Miranda Gomes Henrique de Campos Reis Galvão João I C F Neri Maria Isabel Achatz Cristina Brinckmann Oliveira Netto Patricia Ashton-Prolla

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, following a second hit in a tumor suppressor gene in most hamartomas. Comprehensive screening for mutations in both the TSC1 and TSC2 loci has been per...

Journal: :Seminars in neurology 2015
Anurag Saxena Julian R Sampson

Epilepsy affects 75% to 90% of people with tuberous sclerosis, a multisystem genetic disorder. Although seizures can occur for the first time at any age, onset in infancy or childhood is usual. Around 30% of patients present with infantile spasms that often respond well to treatment with vigabatrin. Later seizures may occur as specific patterns, such as in Lennox-Gastaut syndrome, or with combi...

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...

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