Project description:An 82-year-old woman with a history of LD stage SCLC of her left upper lobe nine years earlier, had been treated with five cycles chemotherapy cyclophosphamide, doxorubicin and etoposide (CDE)) resulting in a complete response. She received prophylactic cranial irradiation. Now she presented with a palpable mass in the right supra-clavicular fossa. Her further medical history revealed coronary vascular disease, for which she underwent PTCA; mild aortic valve stenosis and a pacemaker to treat a third degree AV block. She has NYHA class II. She had a history of cigarette smoking but she stopped when SCLC was diagnosed nine years ago. She had no dyspnea
Project description:The main goal of the study was to measure the epigenetic age (also known as DNA methylation age) of these tissues. Toward this end, we used the epigenetic clock software described in Horvath S (n=2013) DNA methylation age of human tissues and cell types. Genome Biology.2013, 14:R115. DOI: 10.1186/10.1186/gb-2013-14-10-r115 PMID: 24138928
Project description:Postpartum papillary muscle rupture (PMR) is extremely uncommon and tolerated poorly with limited management options other than emergency surgical intervention. This case demonstrates the challenges of postpartum PMR in a young woman with unrecognized vascular Ehlers-Danlos syndrome and highlights the importance of preconception screening of cardiovascular disease. (Level of Difficulty: Beginner.).
Project description:The main goal of the study was to measure the epigenetic age (also known as DNA methylation age) of these tissues. Toward this end, we used the epigenetic clock software described in Horvath S (n=2013) DNA methylation age of human tissues and cell types. Genome Biology.2013, 14:R115. DOI: 10.1186/10.1186/gb-2013-14-10-r115 PMID: 24138928 Human DNA methylation Beadchip v1.2 was used to obtain n=64 Illumina DNA methylation arrays from 30 tissues. For each of the following tissues, we obtained at least 2 replicates: adipose, adrenal gland, aorta, bone, bone-marrow, breast, buccal cells, cartilage, cerebellum, colon, diaphragm, esophagus , frontal cortex, kidney, heart, hippocampus, liver, lung, lymph node, midbrain, muscle, occipital cortex, pancreas, pericardium skin, spleen, stomach, temporal cortex, thyroid, whole blood.
Project description:Valproate-induced Fanconi Syndrome (VFS) is a rare complication of this therapy that has been previously described only in children with epilepsy. We report the first known case of an adult with VFS. Metabolic derangements lead patients to present with fatigue, confusion, weakness, and even bone fractures. Identification and discontinuation of the offending agent is the treatment of choice and helps confirm the diagnosis. This case highlights the importance of surveillance for metabolic derangements among patients on long term therapy with this commonly prescribed medication.