نتایج جستجو برای: tuberous sclerosis complex tsc

تعداد نتایج: 845362  

Journal: :iranian journal of public health 0
hosein dalili family health institute, breastfeeding research center, tehran university of medical sciences, tehran, iran. elahe amini family health institute, maternal- fetal& neonatal research center, tehran university of medical sciences, tehran, iran. parvin akbari asbagh dept. of pediatric, school of medicine, tehran university of medical sciences, tehran, iran. tahereh esmaeilnia shrivany family health institute, breastfeeding research center, tehran university of medical sciences, tehran, iran. nikoo niknafs family health institute, maternal- fetal& neonatal research center, tehran university of medical sciences, tehran, iran. fatemeh nayyeri family health institute, maternal- fetal& neonatal research center, tehran university of medical sciences, tehran, iran.

tuberous sclerosis complex (tsc) is an autosomal-dominant hereditary disorder. this syndrome is characterized by tumor-like malformations in several organs, as well as the heart. this report summarizes a case of tsc in a premature infant, born at 34 weeks' gestation with ascites. after birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. to our knowledge, th...

Journal: :Journal of Nihon University Medical Association 2012

2015
Kamini Gupta Amit Goyal Kavita Saggar Avik Banerjee

Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to confirm the diagnosis of TSC, but also helps in identifying clinically significan...

Journal: :Journal of tropical pediatrics 2015
Vehbi Doğan Şule Yeşil Şeyma Kayalı Serdar Beken Senem Özgür İlker Ertuğrul Ceyhun Bozkurt Utku Arman Örün Selmin Karademir

UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous scleros...

Journal: :iranian journal of child neurology 0
seyyed hassan tonekaboni associate professor of pediatric neurology, pediatric neurology research center, shahid beheshti university of medical sciences (sbmu), tehran, iran parviz tousi professor of dermatology, skin research center, shahid beheshti university of medical sciences, tehran, iran ahmad ebrahimi assistant professor of molecular genetic, shiraz university of medical sciences, shiraz, iran farzad ahmadabadi fellowship of pediatric neurology, assistant professor of pediatrics, pediatric neurology research center, shahid beheshti university of medical sciences (sbmu), tehran, iran zarrintaj keyhanidout associate professor of pediatric neurology, tehran university of medical sciences, tehran, iran gholamreza zamani assistant professor of pediatric neurology, children’s medical center, tehran university of medical sciences (tums ),tehran, iran

how to cite this article: tonekaboni sh, tousi p, ebrahimi a, ahmadabadi f, keyhanidoust z, zamani gh, rezvani m, amirsalari s, tavassoli a, rounagh a, rezayi a. clinical and para clinical manifestations of tuberous sclerosis: a cross sectional study on 81 pediatric patients. iran j child neurol 2012; 6(3): 25-31. objective migraine is a disabling illness that causes absence from school andaffe...

2016
Anna Jeong

Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.

Journal: :iranian journal of child neurology 0
ambey ravi assistant professor, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india doddamani veerabhadra postgraduate student, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india gupta richa senior resident, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india sonamani ngangbam postgraduate student, department of pediatrics, gajraraja medical college and kamlaraja hospital, gwalior, madhyapradesh, india

how to cite this article: ravi a, veerabhadra d, richa g, ngangbam s. a rare occurrence of shagreen patch on the face of apediatric patient with tuberous sclerosis. iranian journal of child neurology 2012;6(1):39-42. tuberous sclerosis is a neurocutaneous syndrome characterized by a clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and l...

Journal: :The European respiratory journal 2008
A Warth E Herpel A Schmähl H Hoffmann F J F Herth P Schirmacher H Dienemann P A Schnabel

Classical angiomyolipomas are benign tumours composed of various tissues, including components of fat, abnormal blood vessels and smooth muscle cells. They are often found in association with tuberous sclerosis complex (TSC). The present study reports a male patient affected by TSC with intermittent, massive chylous pleural effusions, who developed recurrent mediastinal angiomyolipomas. The tum...

Journal: :Journal of clinical images and medical case reports 2023

A middle aged female from Northern India, presented to the Outpatient department with cutaneous lesions typical of Tuberous Sclerosis Complex (TSC) without intellectual disability. She had multiple skin which are enlisted below:

2017
Yiyuan Cao Hanfei Zhang Feifei Wang Dongyong Zhu Meiyan Liao

Tuberous sclerosis complex (TSC) is a rare, auto-somal dominant, hereditary neurocutaneous syndrome, in which hamartomas develop in various organs. Cutaneous features and computed tomography (CT) findings are of great value in the diagnosis of TSC. The present study reported an unusual case of multiple organ abnormalities in a patient with TSC. Radiological findings indicated the presence of ce...

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