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

Publication date: July 2018Source: Case Reports in Women's Health, Volume 19Author(s): Emre Ekmekci, Berfin Okmen Ozkan, Muhammet Serhat Yildiz, Betul KocakayaAbstractCardiac 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:

SATURDAY, Dec. 7, 2019 -- Prescription-grade CBD may help control hard-to-treat seizures caused by a rare genetic disorder, a preliminary study suggests. The study involved 224 patients with tuberous sclerosis complex (TSC) -- a genetic condition...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
The mTOR inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex (TSC) and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel anticonvulsant medication. There is a lack of information regarding drug-drug interactions between mTOR inhibitors and cannabidiol in clinical practice.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Short Communication Source Type: research
(University of Maryland School of Medicine) The University of Maryland School of Medicine (UMSOM), University of Maryland Medical Center (UMMC), and the Tuberous Sclerosis Alliance (TS Alliance) have joined together to launch first-of-a-kind centers in Maryland to treat adults with neurodevelopmental disabilities, such as autism.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Abstract Tuberous sclerosis complex (TSC) is a multisystem disorder with increased prevalence of autism spectrum disorders (ASDs). This project aimed to characterize the autism phenotype of TSC and identify biomarkers of risk for ASD. Because abnormalities of EEG during sleep are tied to neurodevelopment in children, we compared electroencephalographic (EEG) measures during Stage II sleep in TSC children who either did (ASD+) or did not (ASD-) exhibit symptoms of ASD over 36-month follow up. Relative alpha band power was significantly elevated in the ASD+ group at 24 months of age with smaller differences at ...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
CONCLUSIONS: Early data on everolimus as an adjunctive treatment in TSC-associated epilepsy are promising with regards to both effect and tolerability. FUNDING: none. TRIAL REGISTRATION: not relevant. PMID: 31791480 [PubMed - in process]
Source: Danish Medical Journal - Category: General Medicine Tags: Dan Med J Source Type: research
Contributors : Dritan Liko ; Andrzej RzepielaSeries Type : Non-coding RNA profiling by high throughput sequencingOrganism : Mus musculusLoss of the tumor suppressor tuberous sclerosis complex 1 (Tsc1) in the liver promotes gluconeogenesis and glucose intolerance. We asked whether this could be attributed to aberrant expression of small RNAs. We preformed small-RNA sequencing on liver of Tsc1 knock-out mice, and found that miRNAs of the delta like homolog 1 (Dlk1) – deiodinase iodothyronine type III (Dio3) locus are upregulated in an mTORC1-dependent manner. Sustained mTORC1 signaling during development prevented CpG ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Mus musculus Source Type: research
This study may contribute to understand metabolic disorders such as type 2 diabetes mellitus and morbid obesity and implements alternative therapeutic approaches to alter AMPK activity.Abbreviations: ACTB: actin, beta; ADP: adenosine diphosphate; AMP: adenosine monophosphate; AMPK: AMP-activated protein kinase; ARMC8: armadillo repeat containing 8; ATP: adenosine triphosphate; BafA1: bafilomycin A1; BCAA: branched chain amino acid; BICC1: BicC family RNA binding protein 1; BSA: bovine serum albumin; CAMKK2 kinase: calcium/calmodulin dependent protein kinase kinase 2, beta; CHX: cycloheximide; DMEM: Dulbecco's modified Eagl...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
In conclusion, T2D impairs vascular function by dysregulated autophagy. Therefore, autophagy could be a potential target for overcoming diabetic microvascular complications. To What Degree Does Loss of Skeletal Muscle with Age Contribute to Immunosenescence? https://www.fightaging.org/archives/2019/11/to-what-degree-does-loss-of-skeletal-muscle-with-age-contribute-to-immunosenescence/ Sarcopenia, the progressive loss of muscle mass and strength, is characteristic of aging. A perhaps surprisingly large fraction of the losses can be averted by strength training, but there are nonetheless inexorable process...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
This study demonstrates a clear impact of rapamycin treatment on both the molecular signature associated with senescence and the clinical signs of aging in the skin. These data support the idea that a reduction in the burden of senescent cells underlies these improvements. The results could reflect a modification of the senescent cells present in the skin or a reduction in the number of senescent cells. Although rapamycin has been shown to reduce pro-inflammatory secretions produced by senescent cells, the fact that p16INK4A is reduced suggests that the absolute number of senescent cells in the epidermis is reduced. This i...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
In this study we aimed to further elucidate the relation between microvascular density and cortical developmental abnormalities in a cohort of 97 patients with epilepsy and histologically proven mild malformation of cortical development (mMCD), focal cortical dysplasia (FCD) or tuberous sclerosis complex (TSC). Surgical tissue samples were analyzed with quantitative measures of vessel density, T-cell response, microglial activation and myelin content. Subsequently, the results were compared to an age- and localization matched control group. We observed an increase in microvasculature in white matter of TSC cortical tubers,...
Source: International Journal of Developmental Neuroscience - Category: Neuroscience Authors: Tags: Int J Dev Neurosci Source Type: research
More News: OBGYN | Tuberous Sclerosis | Women