Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1016/j.amjmed.2014.06.036 http://scihub22266oqcxt.onion/10.1016/j.amjmed.2014.06.036 C4563803!4563803!25016127     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med 2014 ; 127 (12): 1233-41 Nephropedia Template TP {{tp|p=25016127|t=2014. Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium |pdf=|usr=}}{{25016127}} gab.com Text Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium JO: Am J Med http://www.kidney.de/pget.php?&tw=1&pmid=25016127 #FOAvip Background: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical and genetic features of 108 subjects. Methods: Between Sep 2010?Dec 2012, 108 subjects with acute porphyrias [90 acute intermittent porphyria, 9 hereditary coproporphyria, 9 variegate porphyria] were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central data base. Selected features were compared to data for adults in the USA. Results: Most subjects [88/108, 81%] were female with self-reported onset of symptoms in 2nd?4th decades of life. The most common symptom was abdominal pain. Appendectomies and cholecystectomies were common prior to a diagnosis of porphyria. The diagnosis was delayed by a mean of 15 years. Anxiety and depression were common, and 18% complained of chronic symptoms, especially neuropathic and other pains. The incidences of and systemic arterial hypertension, chronic kidney disease, seizure disorders, and psychiatric conditions were markedly increased. Mutations of the known causative genes were found in 102/105 of those tested, with novel mutations being found in 37 including in 7/8 subjects with hereditary coproporphyria. Therapy with intravenous hematin was the most effective therapy both for treatment of acute attacks and for prevention of recurrent attacks. Conclusions: Acute porphyrias often remain undiagnosed for more than a decade after first symptoms develop. Intravenous hematin is the treatment of choice, both for treatment of acute attacks and for prevention of recurrent attacks. Trial Registration: clinicaltrials.gov identifier: NCT01561157 Twit Text FOAVip Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium ????Am J Med http://www.kidney.de/pget.php?&tw=1&pmid=25016127 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25016127 #FOAvip English Wikipedia <ref>{{Cite pmid|25016127}}</ref> Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium #MMPMID25016127 Bonkovsky HL; Maddukuri VC; Yazici C; Anderson KE; Bissell DM; Bloomer JR; Phillips JD; Naik H; Peter I; Baillargeon G; Bossi K; Gandolfo L; Light C; Bishop D; Desnick RJ Am J Med 2014[Dec]; 127 (12): 1233-41 PMID25016127show ga Background: Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical and genetic features of 108 subjects. Methods: Between Sep 2010?Dec 2012, 108 subjects with acute porphyrias [90 acute intermittent porphyria, 9 hereditary coproporphyria, 9 variegate porphyria] were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central data base. Selected features were compared to data for adults in the USA. Results: Most subjects [88/108, 81%] were female with self-reported onset of symptoms in 2nd?4th decades of life. The most common symptom was abdominal pain. Appendectomies and cholecystectomies were common prior to a diagnosis of porphyria. The diagnosis was delayed by a mean of 15 years. Anxiety and depression were common, and 18% complained of chronic symptoms, especially neuropathic and other pains. The incidences of and systemic arterial hypertension, chronic kidney disease, seizure disorders, and psychiatric conditions were markedly increased. Mutations of the known causative genes were found in 102/105 of those tested, with novel mutations being found in 37 including in 7/8 subjects with hereditary coproporphyria. Therapy with intravenous hematin was the most effective therapy both for treatment of acute attacks and for prevention of recurrent attacks. Conclusions: Acute porphyrias often remain undiagnosed for more than a decade after first symptoms develop. Intravenous hematin is the treatment of choice, both for treatment of acute attacks and for prevention of recurrent attacks. Trial Registration: clinicaltrials.gov identifier: NCT01561157 äAcute Porphyrias in the USA: Features of 108 Subjects from Porphyria C(epmc).pdf DeepDyve Pubget Overpricing