Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report

Publication date: Available online 20 June 2018 Source:Case Reports in Women's Health Author(s): Emre Ekmekci, Berfin Okmen Ozkan, Muhammet Serhat Yildiz, Betul Kocakaya Cardiac tumors are rarely diagnosed in utero. Rhabdomyomas are the most common fetal cardiac tumors. They are usually diagnosed during the first year of life after obstruction of a valve orifice or a cardiac chamber; but they can be detected by echocardiography as early as the second trimester. Rhabdomyomas are usually small. Fetal hydrops and pericardial effusion are rare. The most important indication of tuberous sclerosis in the prenatal period is cardiac rhabdomyoma. Early diagnosis of cardiac rhabdomyoma is thus important for early diagnosis of tuberous sclerosis. This case report concerns the prenatal diagnosis of both multiple fetal cardiac rhabdomyomas and tuberous sclerosis.
Source: Case Reports in Womens Health - Category: OBGYN Source Type: research

Related Links:

Conclusion: Everolimus shows evident improvement and is approved for TSC-associated SEGAs and AMLs. The current study demonstrated the efficacy of oral everolimus in reducing facial angiofibromas, showing the parallel benefits of the treatment protocol for TSC.Dermatology
Source: Dermatology - Category: Dermatology Source Type: research
Contributors : Annie Hien ; Gemma Molinaro ; Botao Liu ; Kimberly M Huber ; Joel D RichterSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMetabotropic glutamate receptor-mediated long-term depression (mGluR-LTD) is a form of synaptic plasticity that is dysregulated in multiple mouse models of autism, including fragile X syndrome and tuberous sclerosis.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
Hypoxic/ischemic preconditioning (HPC/IPC) is an innate neuroprotective mechanism in which a number of endogenous molecules are known to be involved. Tuberous sclerosis complex 1 (TSC1), also known as hamartin, is thought to be one such molecule. It is also known that hamartin is involved as a target in the rapamycin (mTOR) signaling pathway, which functions to integrate a variety of environmental triggers in order to exert control over cellular metabolism and homeostasis. Understanding the role of hamartin in ischemic/hypoxic neuroprotection will provide a novel target for the treatment of hypoxic-ischemic disease. Theref...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
AbstractBackgroundThe aim of this study was to evaluate the safety and efficacy of low-dose everolimus treatment in patients with tuberous sclerosis complex (TSC)-associated angiomyolipoma (AML) with renal dysfunction or low body weight.MethodsWe investigated a total of 50 adult patients underwent everolimus treatment for AML associated with TSC. For patients with renal dysfunction (serum creatinine level  ≥ 1.5 mg/dl) or low body weight (body weight 
Source: International Journal of Clinical Oncology - Category: Cancer & Oncology Source Type: research
We aim to elucidate the disease impact by accounting the prevalence, survival rate, genetics, mTOR inhibitor use and direct costs of tuberous sclerosis complex (TSC) in our local setting. TSC patients with doc...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In this study, we aimed to elucidate the mechanisms of MSCs-extracellular vesicles (EVs) carrying transforming growth factor-beta 1 (TGF-β1) in M2 polarization in mouse macrophages via the microRNA-132 (miR-132)/E3 ubiquitin ligase myc binding protein 2 (Mycbp2)/tuberous sclerosis complex 2 (TSC2) axis. Mouse MSCs were isolated for adipogenic and osteogenic induction, followed by co-culture with mouse macrophages RAW264.7. Besides, mouse macrophages RAW264.7 were co-cultured with MSCs-EVs in vitro, where the proportion of macrophages and inflammation were detected by flow cytometry and ELISA. The experimental data rev...
Source: J Cell Mol Med - Category: Molecular Biology Authors: Tags: J Cell Mol Med Source Type: research
Hurwitz S, Irwin B. White Spots in Tuberous Sclerosis. J Pediatr 1970;77:587-94.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Original Article Source Type: research
Conclusion: Small coincidentally discovered retinal astrocytic hamartomas in older patients can be difficult to diagnose and possibly cause diagnostic confusion with other conditions including myelinated nerve fiber and cotton wool spot. Retinal astrocytic hamartoma is characterized by thickening of the retinal nerve fiber layer and mild compression and disorganization of the underlying retinal layers on spectral domain optical coherence tomography.
Source: Retinal Cases and Brief Reports - Category: Opthalmology Tags: Case Report Source Type: research
Publication date: November 2020Source: Urology Case Reports, Volume 33Author(s): Virgilio Michael Ambrosi Grappelli, Serena Pastore, Claudia Fede Spicchiale, Lorenzo Alteri, Andrea Turbanti, Enrico Finazzi Agrò
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Tuberous sclerosis complex (TSC) represents the prototypic monogenic disorder of the mammalian target of rapamycin (mTOR) pathway dysregulation. It provides the rational mechanistic basis of a direct link between gene mutation and brain pathology (structural and functional abnormalities) associated with a complex clinical phenotype including epilepsy, autism, and intellectual disability. So far, research conducted in TSC has been largely neuron-oriented. However, the neuropathological hallmarks of TSC and other malformations of cortical development also include major morphological and functional changes in glial cells invo...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
More News: OBGYN | Tuberous Sclerosis | Women