Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162871 (abdominal aortic aneurysm)
 8,664 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Peroxisomal matrix protein import requires the action of two AAA ATPases, PEX1 and PEX6. Mutations in either the PEX1 or PEX6 gene are the most common cause of the lethal neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease and account for disease in 80% of all such patients. We report here that overexpression of PEX6 can suppress the phenotypes of certain PEX1-deficient cells, that overexpression of PEX1 can suppress the phenotypes of certain PEX6-deficient cells, and that these instances of suppression are allele-specific and require partial activity of the mutated gene. In addition to genetic evidence for interaction between PEX1 and PEX6, we find that the PEX1 and PEX6 proteins interact in the yeast two-hybrid assay and physically associate with one another in vitro. We previously identified a missense mutation in PEX1, G843D, which attenuates PEX1 function and is the most common cause of these diseases, present in one-third of all such patients. The G843D mutation attenuates the interaction between PEX1 and PEX6 in both the two-hybrid system and in vitro and appears to be suppressed by overexpression of PEX6. We conclude that PEX1 and PEX6 form a complex of central importance to peroxisome biogenesis and that mutations affecting this complex constitute the most common cause of the Zellweger syndrome spectrum of diseases.
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PMID:Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease. 967 29

Despite published criteria predicting poor survival after operation for ruptured abdominal aortic aneurysm (RAAA), little is known about the factors which influence surgeons not to operate. Questionnaires were sent to all 404 members of the Vascular Surgical Society of Great Britain and Ireland, posing questions about their practices, and factors influencing the decision not to operate (no influence; may influence; seldom operate; never operate). There were 323 responses (81%) and 97% decided not to operate on selected patients. Age over 80 years influenced 77%, and 54% seldom or never operate over age 85 years. The single most influential factor was severe neurological disease (75% seldom or never operate), while cardiac, pulmonary and renal disease influenced 22%, 28%, and 21%, respectively, to operate seldom or never (74% if two or more of these). Other factors which had some influence for most surgeons were cardiac arrest (85%), loss of consciousness (74%), prolonged hypotension (73%), and long-term nursing care (87%). By contrast, factors which influenced few surgeons were haemoglobin < 9 g/dl (30%), absence of a close relative (33%), and medicolegal considerations (22%). These data help to inform the debate about case selection for repair of RAAA.
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PMID:Ruptured aortic aneurysm: the decision not to operate. 968 50

Anejaculation may occur as a result of neurological disease, iatrogenic injury or be drug induced. We report a case of a 66 year old man who presented with anejaculation following an emergency abdominal aortic aneurysm repair. Due to an elevated prostate specific antigen (PSA) level, the patient underwent a prostate biopsy and was diagnosed with a prostate adenocarcinoma. This was effectively managed using active surveillance, a treatment modality that aims to select only those patients with significant cancer for radical treatment. Despite the possible cause of anejaculation to be iatrogenic, the reader should be aware that prostate cancer may co-exist in, or cause any disorder of the lower urinary tract.
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PMID:Anejaculation as an atypical presentation of prostate cancer: a case report. 1869 7

Transfer RNA (tRNA) modifications enhance the efficiency, specificity and fidelity of translation in all organisms. The anticodon modification mcm(5)s(2)U(34) is required for normal growth and stress resistance in yeast; mutants lacking this modification have numerous phenotypes. Mutations in the homologous human genes are linked to neurological disease. The yeast phenotypes can be ameliorated by overexpression of specific tRNAs, suggesting that the modifications are necessary for efficient translation of specific codons. We determined the in vivo ribosome distributions at single codon resolution in yeast strains lacking mcm(5)s(2)U. We found accumulations at AAA, CAA, and GAA codons, suggesting that translation is slow when these codons are in the ribosomal A site, but these changes appeared too small to affect protein output. Instead, we observed activation of the GCN4-mediated stress response by a non-canonical pathway. Thus, loss of mcm(5)s(2)U causes global effects on gene expression due to perturbation of cellular signaling.
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PMID:Loss of a conserved tRNA anticodon modification perturbs cellular signaling. 2393 36

Acute aortic thrombosis (AAT) is a rare life threatening event that leads to a sudden occlusion of the aorta. The mortality and morbidity of AAT is still high despite modern surgical techniques. Usually it is the result of a large saddle embolus to the aortic bifurcation, in situ thrombosis of an atherosclerotic aorta or acute occlusion of an abdominal aortic aneurysm. Clinical symptoms depend on the level of the aortic occlusion and can be mistaken for a stroke or similar neurological disease. The combination of age and advanced cardiac disease seems to be significant risks factors for AAT. In patients who have no cardiac or vascular disease this catastrophic event is very rare and is mostly due to hypercoagulable disorders. Revascularization of the ischemic organ/limb as soon as possible is the major aim in the therapy of AAT to avoid further ischemic damage. Surgical reperfusion is the first line approach. If the accepting clinic has no facilities for an immediate surgical intervention it is of primary importance that these patients should be referred to an appropriate center for further management. Paradox seems the fact that most of the patients die as a consequence of reperfusion injury/postperfusion syndrome that occurs after revascularization of acute ischemic limbs.
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PMID:Management of acute aortic thrombosis. 2800 97

The purpose of our study was to evaluate the rate of ventral hernia repair (VHR) after open abdominal aortic anneurysm in New York State compared with the rate of VHR after open abdominal aortic bypass procedures. The Statewide Planning and Research Cooperative System database was queried for all abdominal aortic aneurysm (AAA) and bypass procedures performed between 2000 and 2010. Social security death index was used to identify patients who died. The cause-specific Cox proportional hazard model was applied to compare the risk of having follow-up VHR between patients with AAA and bypass with death as a competing risk event. A multivariable model was used to explore independent relationship with the risk of having follow-up ventral hernia after adjusting for other factors. There were 9314 patients who underwent open AAA repair, 739 (7.93%) of which had subsequent VHR. Comparatively, 8280 patients underwent aortofemoral or aortoiliac bypass procedures, with 480 (5.8%) undergoing subsequent VHR. The observed one-year, five-year, and 10-year VHR rates for AAA versus bypass were 2.8 versus 1.8 per cent, 10.0 versus 8.0 per cent, 10.7 versus 9.38 per cent, respectively. After controlling for all other factors, patients undergoing AAA repair were more likely and elderly patients were less likely to undergo VHR (P < 0.0001). Patients with serious comorbid conditions such as valvular disease, diabetes mellitus, and neurologic disorders were less likely to undergo subsequent VHR controlling for other factors. VHR after AAA procedures is more common compared with bypass procedures for occlusive disease. Because this patient population has significant comorbidity, prophylactic mesh placement may play a role in preventing necessity for future procedures.
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PMID:Incidence of Ventral Hernia Repair after Open Abdominal Aortic Aneurysm and Open Aortofemoral or Aortoiliac Bypass Surgery: An Analysis of 17,594 Patients in the State of New York. 3018 21