This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored.
View Article and Find Full Text PDFPathogenic germline mutations c.1100delC and p.I157T in the CHEK2 gene have been associated with increased risk of breast, colon, kidney, prostate, and thyroid cancers; however, no associations have yet been identified between these two most common European founder mutations of the CHEK2 gene and ovarian cancers of any type.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders with clinical presentation predominantly in the childhood. The NCLs represent lysosomal storage disorders characterized by the accumulation of autofluorescent lipopigment storage material. The most common clinical features include development failure, psychomotor regression, seizures, and progressive loss of vision.
View Article and Find Full Text PDFIn this article, we report the autopsy findings of a 23-year-old woman, who was found unconscious at home by her relatives. During the transportation to the hospital, the woman was handed over to the ambulance personnel, who were the first to provide cardiopulmonary resuscitation. In the hospital, after an hour-lasting asystole, the heart activity was restored.
View Article and Find Full Text PDFIn this paper we report the autopsy findings of a 7 year old girl who presented with headache, nausea and repeated vomiting and died unexpectedly at home. She had no previous history of major illnesses and no history of epileptic seizures. External examination revealed ocular abnormalities.
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