mitochondrial disorders (mids) require biochemical or genetic investigations for being diagnosed. in some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. the patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. th...

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context maternal serum human chorionic gonadotropin (hcg) and alpha fetal protein (afp) were originally introduced to detect trisomy 21 and neural tube defects. however, in the absence of aneuploidy or neural tube defects, mid-trimester maternal serum hcg and/or maternal serum afp associated with adverse pregnancy outcomes. pregnancies with unexplained mid-trimester elevation in maternal serum ...