Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
Frontiers in MedicineBackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo +5 more
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Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]
F1000Research, 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
Evidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients. [PDF]
, 2019 Brain-infiltrating lymphocytes (BILs) were isolated from resected brain tissue from 10 pediatric epilepsy patients who had undergone surgery for Hemimegalencephaly (HME) (n = 1), Tuberous sclerosis complex (TSC) (n = 2), Focal cortical dysplasia (FCD) (n
Chang, Julia W +8 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter +6 more
wiley +1 more source
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
GMS Ophthalmology Cases, 2016 Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce +4 more
doaj +1 more source
Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]
, 2018 mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S +2 more
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The Association Between Maternal Asthma and Child Autism: A Systematic Review and Meta‐Analysis
Autism Research, EarlyView.ABSTRACT Maternal asthma has been linked to child autism. In this study, we systematically reviewed observational studies published between July 2001 and February 2024 that assessed maternal asthma during pregnancy (exposure) and child autism (outcome). Databases searched included MEDLINE, CINAHL, EMBASE, and PsycINFO.
Renee van der Schaaf +5 more
wiley +1 more source
Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
, 2018 Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe +6 more
core +3 more sources
Epileptic Disorders, EarlyView.Abstract Objective (1) To compare use, benefits, and complications of stereo‐EEG (SEEG) and subdural EEG (SD) in presurgical epilepsy candidates. (2) To evaluate the effectiveness of both methods in delineation of the epileptogenic zone (EZ) and guiding tailored resective surgery. Methods We included patients with SEEG or SD evaluations in children and
Ahmed Gaballa +7 more
wiley +1 more source
Epitheloid Variant of Angiomyolipoma in a Patient with Tuberous Sclerosis. [PDF]
, 2013 Epitheloid angiomyolipoma of kidney is a type of Perivascular endothelial cell derived tumor with an aggressive behaviour with specific pathological, immunohistochemistrical and genetic characteristics.
Amirtham, U +4 more
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