Electroencephalographic (EEG) recordings in individuals with Fragile X Syndrome (FXS) and the mouse model of FXS ( KO) display cortical hyperexcitability at rest, as well as deficits in sensory-driven cortical network synchrony. A form of circuit hyperexcitability is observed in cortical slices of KO mice as prolonged persistent activity, or Up, states. It is unknown if the circuit mechanisms that cause prolonged Up states contribute to FXS-relevant EEG phenotypes.
View Article and Find Full Text PDFThe Aven de la Boucle (Corconne, Gard, southern France) is a karst shaft used as a collective burial between 3600 and 2800 cal BCE. The site encompasses the skeletal remains of approximately 75 individuals comprising a large majority of adult individuals, represented by scattered and commingled remains. To date, few studies have explored the potential of ancient DNA to tackle the documentation of Neolithic collective burials, and the funerary selection rules within such structures remain largely debated.
View Article and Find Full Text PDFAutism Spectrum Disorders (ASD) encompass a wide array of debilitating symptoms, including severe sensory deficits and abnormal language development. Sensory deficits early in development may lead to broader symptomatology in adolescents and adults. The mechanistic links between ASD risk genes, sensory processing and language impairment are unclear.
View Article and Find Full Text PDFBackground: Transcatheter edge-to-edge repair (TEER) for the systemic atrioventricular valve has been anecdotally reported as a viable treatment option in symptomatic inoperable adult patients born with congenitally corrected transposition of the great arteries (ccTGA). However, to date, case reports on TEER treatment of both atrioventricular valves are lacking, especially when considering the present availability of specific mitral and tricuspid valve TEER devices.
Case Summary: We present the case of an 84-year-old man with recurrent admissions for acute heart failure due to high-grade regurgitation of both atrioventricular valves.
The oligometastatic disease state, defined as a cancer with 5 or fewer sites of metastasis, is a therapeutic opportunity to improve oncologic outcomes. Colorectal cancer (CRC) was among the first for which oligometastatic treatment was used in routine clinical practice, and recent studies have shown potential for improved overall survival with metastasis-directed therapies. As CRC is the third most common cause of cancer death in men and women, improving oncologic outcomes in this population is of paramount importance.
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