diagnosing mitochondrial disorder without sophisticated means
نویسندگان
چکیده
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. the history was positive for arterial hypertension, hypertrophic cardiomyopathy with systolic dysfunction, diabetes-type 2, mild renal insufficiency, thyroiditis, and polyneuropathy. instrumental investigations additionally revealed hepatopathy, hyperlipidemia, hyperuricemia, bifascicular block, white matter lesions, and subacute stroke. systolic dysfunction resolved upon adequate cardiac treatment. on hospital day 11 the patient suddenly developed asystole. he was successfully resuscitated but died a few hours later from acute myocardial infarction. surprisingly, a more extensive family history was positive for myopathy (patient, brother, daughter), neuropathy (patient), hypoacusis (patient), parkinson syndrome (mother), spasticity (son), diabetes (patient, son), renal failure (patient), and generalized atherosclerosis (patient). the individual and family history was strongly suggestive of an mid. in conclusion, individual and family history may strongly suggest mid. phenotypic variability may be high between family members affected by an mid. mid may be associated with an increasing atherosclerotic risk lastly resulting in coronary heart disease and death.
منابع مشابه
Diagnosing Mitochondrial Disorder without Sophisticated Means.
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...
متن کاملSophisticated quantum search without entanglement
Grover's quantum search algorithm has recently been implemented without entanglement, by replacing multiple particles with a single particle having exponentially many states. We recall that all physical resources must be accounted for to quantify algorithm complexity, and that this scheme typically incurs exponential costs in some other resource(s). In particular, we demonstrate that a recent e...
متن کاملProblems in diagnosing bipolar disorder
Angst (2007) provides more balanced views on the much publicised concerns about the underdiagnosis of bipolar disorder. Psychiatric diagnoses are not robust entities (Baca-Garcia et al, 2007) and most recent research in mood disorders has arisen from redefining and often rigidly applying the DSM criteria, which has proved a hindrance to research. The problem in mood disorder research lies in ou...
متن کاملProblems in diagnosing bipolar disorder
Angst (2007) provides more balanced views on the much publicised concerns about the underdiagnosis of bipolar disorder. Psychiatric diagnoses are not robust entities (Baca-Garcia et al, 2007) and most recent research in mood disorders has arisen from redefining and often rigidly applying the DSM criteria, which has proved a hindrance to research. The problem in mood disorder research lies in ou...
متن کاملProblems in diagnosing bipolar disorder
Angst (2007) provides more balanced views on the much publicised concerns about the underdiagnosis of bipolar disorder. Psychiatric diagnoses are not robust entities (Baca-Garcia et al, 2007) and most recent research in mood disorders has arisen from redefining and often rigidly applying the DSM criteria, which has proved a hindrance to research. The problem in mood disorder research lies in ou...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
acta medica iranicaجلد ۵۳، شماره ۱۰، صفحات ۶۵۹-۶۶۲
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023