Results 101 to 110 of about 347,356 (359)

Presentation and diagnosis of neonatal tuberous sclerosis complex: A case report and literature review

open access: yesSAGE Open Medical Case Reports
Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging.
Susmin Karki   +7 more
doaj   +1 more source

Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]

open access: yesF1000Research, 2018
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj   +1 more source

Imaging features of rare mesenychmal liver tumours: beyond haemangiomas. [PDF]

open access: yes, 2017
Tumours arising from mesenchymal tissue components such as vascular, fibrous and adipose tissue can manifest in the liver. Although histopathology is often necessary for definitive diagnosis, many of these lesions exhibit characteristic imaging features.
Ahmed, Kareem   +7 more
core   +3 more sources

Pulmonary manifestations in tuberous sclerosis complex

open access: yesAmerican Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Tuberous sclerosis complex has manifestations in many organ systems, including brain, heart, kidney, skin, and lung. The primary manifestations in the lung are lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH).
N. Gupta, E. Henske
semanticscholar   +1 more source

Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields   +4 more
wiley   +1 more source

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

open access: yesCase Reports in Neurological Medicine
Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar   +11 more
doaj   +1 more source

Successful Treatment of Growing Renal Angiomyolipomas With Low-Dose Everolimus in a School-Aged Child With Tuberous Sclerosis Complex. [PDF]

open access: yesNephrology (Carlton)
ABSTRACT Renal angiomyolipomas (AMLs) are a common renal manifestation in tuberous sclerosis complex (TSC), occurring in 50%–85% of cases. Even in asymptomatic individuals, treatment is often initiated based on AML size, with mTOR inhibitors being the primary medical therapy.
Senoo S   +5 more
europepmc   +2 more sources

Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia.

open access: yesJAMA Neurology, 2019
Importance Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders.
A. Liu   +15 more
semanticscholar   +1 more source

Novel Pathogenic Variant in Exon 31 of the TSC2 Gene Associated With a Severe Phenotype of Tuberous Sclerosis

open access: yes
Annals of the Child Neurology Society, EarlyView.
Tabitha D'souza   +2 more
wiley   +1 more source

Ictal emotional features in pediatric and young adult patients with frontal lobe epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objective To assess the localization and lateralization values of ictal emotional features and ictal defensive behaviors in pediatric and young adult patients with frontal lobe epilepsy (FLE). Methods Children and young adults with FLE were identified from a single institution's epilepsy surgery database.
Ming‐Chen Tsai   +6 more
wiley   +1 more source

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