Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.

Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity. Although initially suspected to be the result of fetal infection with CMV, amniocentesis excluded fetal infection and microarray analysis detected a de novo 2.13 MB interstitial deletion of 5q35.2-35.3 involving several genes including the NSD1 gene, thus confirming the diagnosis of Sotos syndrome. This case provides novel characterization of the sonographic phenotype in a fetus with Sotos syndrome and discusses the differential diagnosis.

Identity and Reproductive Aspects in Females with Fragile X Syndrome.

Purpose: Fragile X Syndrome (FXS) is caused by a full mutation in the FMR1 gene, defined by >200 CGG repeats. It is the leading cause of inherited intellectual disability, but presents with a wide range of clinical variability in males and particularly amongst females. This article aims to review the perspectives of women with the full mutation in relation to Fragile X Syndrome identification, romantic desires, and reproductive decision making. Methods: We generated an online survey of 33 questions to be administered to 31 women that had visited our Fragile X Syndrome Clinic and members of the National Fragile X Foundation. We extrapolated common themes from the obtained data. Results: The results showed that most women often struggled with identifying as a female with FXS. Furthermore, many women are interested in childbearing, however most are in need of genetic counseling. Conclusions: Further research to advance the understanding of the specific needs of women with FXS is necessary.

Ellagic Acid, a Dietary Polyphenol, Selectively Cytotoxic to HSC-2 Oral Carcinoma Cells.

BACKGROUND: The antiproliferative and apoptotic effects of ellagic acid, a dietary polyphenol, were studied. MATERIALS AND METHODS: The neutral red cytotoxicity assay compared the sensitivities of gingival fibroblasts and HSC-2 oral carcinoma cells to ellagic acid. The ferrous ion oxidation xylenol orange assay and levels of intracellular reduced glutathione were used to assess pro-oxidant nature of ellagic acid. Antioxidant activity was demonstrated in cells co-treated with H2O2 and ellagic acid by 2',7'-dichlorodihydrofluorescein diacetate staining and in cells co-treated with gallic acid and ellagic acid by morphological analysis. Apoptosis was assessed by microscopy, flow cytometry, luminescence, and immunoblotting. RESULTS: Ellagic acid was cytotoxic to carcinoma cells, but not to normal cells. Its pro-oxidant nature was minimal, whereas its antioxidant property was biologically significant. Ellagic acid-treated cells demonstrated apoptotic morphology, induction of apoptosis (flow cytometry), increase in caspase 3/7 activities (luminescence), and activation of caspase 3 and cleavage of poly ADP ribose polymerase (immunoblot). CONCLUSION: Ellagic acid exhibited significant antioxidant, but not pro-oxidant, activity and was selectively cytotoxic to oral carcinoma cells.