The porphyrias.

M B Poh-Fitzpatrick

Home/Archive/PubMed

PubMed · 3549079

The porphyrias.

M B Poh-Fitzpatrick

View original source ↗Export metadata ↓

Abstract

The porphyrias are a group of disorders of heme metabolism that result from partial defects in the several enzymes that control heme biosynthesis. Accumulation of porphyrins or porphyrin precursors in several different patterns results from these defects and biochemically characterizes each specific syndrome. Patterns of cutaneous photosensitivity and associated systemic symptoms among the several porphyrias result from the types of porphyrins or precursors accumulated in each.

Explore related subjects

Acute Disease Coproporphyrins Erythropoiesis Humans Liver Diseases Porphyrias Protoporphyrins Skin Diseases Journal Article Research Support, U.S. Gov't, P.H.S.Review

Keep this discovery

Explore connections, maps & timelines

BibTeX RIS

M B Poh-Fitzpatrick. 1987. The porphyrias.. https://pubmed.ncbi.nlm.nih.gov/3549079/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2008

The effect of acute pain crisis on exhaled nitric oxide levels in children with sickle cell disease.

Exhaled nitric oxide (FE(NO)) has been shown to be decreased in children with sickle cell disease. We sought to evaluate the effect of sickle cell vaso-occlusive crisis (VOC) on FE(NO) levels. We measured FE(NO) levels in 42 children with sickle cell disease, 29 in their baseline health and 13 during an acute VOC. There was no difference in FE(NO) levels between children at baseline (15.12 +/- 9.32 ppb) and those during an acute VOC (15.68 +/- 7.26 ppb; P = 0.794). FE(NO) is not a useful marker of acute VOC in children with sickle cell disease.

Acute Disease↗

PubMed2008

[Megadolichobasilar anomaly causing acute deafness with vertigo].

Megadolichobasilar anomaly, a dilatant arteriopathy of the basilar artery attributable to chronic arterial hypertension, can cause cranial nerve compression syndromes of the cerebellopontine angle or infarcts of the vertebrobasilar circulation. In this paper, we report on a patient with known megadolichobasilar anomaly and a partially thrombosed fusiform aneurysm of the basilar artery, who presented with acute-onset vertigo and subsequent deafness due to thromboembolic occlusion of the labyrinthine artery. Because of the vascular origin of the patient's symptoms, his vertigo disappeared over time while the deafness persisted.

Acute Disease↗

PubMed2008

Retrieval of a leaflet escaped in a Tri-technologies bileaflet mechanical prosthetic valve.

The escape of the prosthetic heart valve disc is one of the causes of prosthetic dysfunction that requires emergency surgery. The removal of the embolized disc should be carried out because of the risk of a progressive extrusion on the aortic wall. Several imaging techniques can be used for the detection of the missing disc localization. In this report we describe a 32-year-old man who underwent mitral valve replacement with a Tri-technologies bileaflet valve three years ago, and was admitted in cardiogenic shock. Transesophageal echocardiography showed acute-onset massive mitral regurgitation. The patient underwent emergency replacement of the prosthetic valve. Only one of the two leaflets remained in the removed prosthetic valve. The missing leaflet could not be found within the cardiac cavity. The abdominal fluoroscopic study and plain radiography were unable to detect the escaped leaflet. The abdominal computed tomography scan and the ultrasound showed the escaped leaflet in the terminal portion of the aortic bifurcation. To retrieve the embolized disc laparotomy and aortotomy were performed three months later. The escaped leaflet shows a fracture of one of the pivot systems caused by structural failure. This kind of failure mode is usually the result of high stress concentration.

Acute Disease↗