Postmorterm Computed Tomography and Autopsy to Confirm Sudden Death Due to Tracheal Compression by Mediastinal Fat Tissue in a Young Man With Obesity.

A man in his early twenties with obesity was found dead in his apartment. The deceased was found naked and surrounded by empty bottles of electrolytes. An autopsy performed approximately 6 days postmortem and gross inspection revealed the absence of injury and no apparent extrinsic cause of death.

Immunological abnormalities in patients with early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH) is a neurodegenerative disorder caused by mutation in the aprataxin (APTX)-coding gene APTX, which is involved in DNA single-strand break repair (SSBR). The neurological abnormalities associated with EAOH are similar to those observed in patients with ataxia-telangiectasia. However, the immunological abnormalities in patients with EAOH have not been described.

Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.

Objective: To report detail of a patient with infantile spasms whose cytogenetic analysis revealed mosaic monocentric and duplicated supernumerary marker chromosome (SMC) 15.

Subject And Methods: The subject for this case was a 13-month-old girl with infantile spasms and delayed developmental milestones. Chromosomal analysis with G-band showed the presence of SMC in mosaic.