Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0242339 (dyslipidemia)
 13,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 77-year-old man was referred with a 5-year history of an intermittently painful, nonhealing right medial ankle ulcer. The ulcer had not responded to multiple treatment modalities, including Unna boots, compression therapy, sclerotherapy, and split-thickness skin grafting. The past medical history was significant for a deep venous thrombosis in the right leg 30 years earlier (treated with warfarin for 3 months) and a history of greater saphenous vein harvesting for coronary bypass grafting 28 years previously. After the vein stripping, the patient had suffered from increasing right leg edema and stasis changes in the right leg. His history was also remarkable for coronary artery disease, dyslipidemia, and lymphoma treated with chemotherapy 8 years before presentation, with no evidence of recurrence. He had stopped smoking approximately 20 years earlier. Medications included atenolol, simvastatin, nicardipine, nitroglycerin, and aspirin. Skin examination revealed a 3.0 x 3.5-cm ulcer adjacent to the medial malleolus. The edges of the ulcer appeared raised and rolled (Fig. 1). Centrally, there was granulation tissue, which appeared healthy. There were surrounding dermatitic changes. Dorsalis pedis and the posterior tibial pulses were normal. Noninvasive vascular studies revealed severe venous incompetence of the right popliteal and superficial veins. Arterial studies and transcutaneous oximetry were normal. Computed tomographic scan of the pelvis did not reveal any adenopathy, and radiographic imaging did not reveal any bony changes suggestive of osteomyelitis. Biopsy of the ulcer edge and base showed infiltrating basal cell carcinoma (Fig. 2). Mohs' micrographic surgery required three layers; the final extent of the ulcer was 7.8 x 6.9 cm. A split-thickness skin graft was placed.
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PMID:Infiltrating basal cell carcinoma in the setting of a venous ulcer. 1094 Jan 16

Case presentations are one of the most instructive formats for learning. They allow the healthcare practitioner to identify and discuss patients who are at risk for a disease and then discuss appropriate therapy. Two patients who have dyslipidemia and are at risk for a coronary event are described here, along with treatment goals and options, audience responses, and discussions of appropriate therapy choices. Both patients require aggressive lipid management. One has had an angioplasty with placement of a stent. His case is an example of a patient at risk for a secondary coronary event; we refer to these cases as secondary-prevention patients. The other patient has high blood pressure and type 2 diabetes; her risk for a future coronary event based on Framingham risk data is greater than 20% in 10 years and therefore her risk for a future coronary event is equal to someone with established coronary heart disease (CHD). Her case is an example of what we refer to as a primary-prevention patient at high risk. Several large-scale primary- and secondary-prevention trials have demonstrated that aggressive lipid management can reduce the risk of future coronary events. In this supplement, we review some of those trials, the new guidelines, the concept of CHD-equivalent risk, and we will discuss the Framingham risk scoring system to predict the 10-year risk of coronary events in individual patients.
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PMID:Identifying all suspects: case studies. 1151 17

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia occurring in the first few weeks of life. It can be either transient (TNDM) or permanent (PNDM). A 25 days old newborn was brought to the hospital with restlessness, respiratory depression and cyanosis. He was born at term with a birth weight of 2,000 g. There was no consanguinity between his parents. His physical examination findings were as follows: Weight and height were under 3th percentile, he was hypoactive and dehydrated. Serum glucose level was 800 mg/dl; C-peptide was 0.41 ng/ml. Upon investigation for dyslipidemia in association with his neonatal diabetes, hyperchylomicronemia was found both in the patient and his father. Pancreatitis, anemia and cholestasis were also observed. Insulin treatment was started for his diabetes together with a special diet for dyslipidemia. At the end of 28 months of follow-up, dyslipidemia has resolved but the need for insulin therapy was still existing. However, TNDM was considered in differential diagnosis because he was small for gestational age (SGA) at birth and his symptoms had started at the 25th day of the neonatal period. Delayed recovery from insulin dependency brought out the possibility of PNDM. Furthermore, neonatal diabetes combined with hypechylomicronemia is a rare clinical picture. Reported cases of NDM with different clinical evaluation will help to better understanding of this disorder.
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PMID:Neonatal diabetes with hyperchylomicronemia. 1255 65

Dr Winkelmann is the Head of the Cooperation Unit for Pharmacogenomics and Applied Genomics in Heidelberg, which was founded in 2001 by the Department of Internal Medicine VI and the Coordination Centre for Clinical Trials at the University of Heidelberg. His main interests are sophisticated phenotyping procedures for patient characterization and the conduct of multicenter clinical trials according to international standards with state-of-the-art data management. He currently applies new genomic tools in order to achieve progress in personalized medicine using collaborating networks of general practitioners for patient enrollment. The focus of his research group is on the common complex genetic cardiovascular and metabolic diseases ranging from coronary artery disease, dyslipidemia and hypertension, to metabolic syndrome and diabetes mellitus. In collaboration with partners from biotech, the genomic techniques used in clinical studies include haplotyping of candidate genes, gene expression profiling of peripheral leucocytes and proteomics in order to identify new biomarkers of effect in therapeutic studies or pathway/target gene identification in disease-specific family studies using microarray-based linkage approaches. An innovative web-based remote data entry system with an integrated pedigree drawing tool is used in the family studies. Dr Winkelmann is also involved as the clinical database coordinator for a European Framework VI research initiative of leading European centers in cardiovascular genetics for identification of risk genes for atherothrombosis in coronary artery disease by transcriptome and proteome analysis and high throughput exon resequencing at the Wellcome Trust Sanger Institute, Cambridge, UK.
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PMID:Pharmacogenomics, genetic testing and ethnic variability: tackling the ethical questions. 1294 62

A 28-year-old, moderately obese man with dyslipidemia (low-density lipoprotein 163 mg/dL, high-density lipoprotein 33 mg/dL), hypertension, active tobacco use (1 pack per day), and a family history for premature coronary artery disease (CAD) initially presented with burning, nonexertional chest discomfort exacerbated by deep inspiration. His initial electrocardiogram (ECG; Fig. 1A) was interpreted as pericarditis because of the diffuse mild ST-segment elevation and PR-segment depression. An echocardiogram demonstrated normal left ventricular systolic function and a trivial pericardial effusion. He was treated with nonsteroidal antiinflammatories and his symptoms resolved. Follow-up ECG performed the next morning (Fig. 1B) demonstrated sinus rhythm, persistent mild ST elevation, and biphasic T waves in leads V3-V4 as well as in leads III and aVF. Four months later, the patient returned with similar symptoms of chest discomfort and was admitted with the diagnosis of unstable angina. The admission ECG was unremarkable showing no persistent PR or ST-T abnormalities. He was ruled out for myocardial infarction by serial enzymes. An exercise myocardial perfusion imaging study was obtained. The patient exercised for 7 minutes 33 seconds on a standard Bruce protocol, obtained 9.4 METs, and reached 69% of maximum predicted heart rate. His exercise ECG revealed up to 2.5 mm of ST-segment elevation in leads V3-V5 accompanied by chest discomfort. The patient's chest pain resolved with cessation of exercise and 1 sublingual nitroglycerin. The ECG returned to baseline within 3 minutes of recovery. He was referred for coronary angiography and was found to have a proximal left anterior descending (LAD) stenosis and underwent percutaneous coronary intervention with stenting. He was discharged home on postprocedure day 3.
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PMID:The importance of the evolution of ST-T wave changes for differentiating acute pericarditis from myocardial ischemia. 1507 82

Protease inhibitors (PIs) inhibit the cytochrome P450 CYP3A4. Because the metabolism of pravastatin is independent of the cytochrome P450 CYP3A4, this drug has become the preferred statin for treatment of dyslipidemia associated with human immunodeficiency virus (HIV) infection, with no cases of serious toxicity such as rhabdomyolysis reported to date. We report an HIV-infected patient receiving antiretroviral regimen consisting of atazanavir, ritonavir, emtricitabine and tenofovir who developed severe rhabdomyolysis approximately 4 months after increasing his pravastatin dose from 40 to 80 mg daily. His symptoms resolved within 10 days after the discontinuation of pravastatin and antiretroviral therapy. To our knowledge, this is the first case of rhabdomyolysis possibly caused by pravastatin in an HIV-infected patient.
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PMID:Rhabdomyolysis in an HIV-infected patient on anti-retroviral therapy precipitated by high-dose pravastatin. 1944 5

Thiazolidinediones (TZD), which are widely used as insulin sensitizers, and fibrates, which are lipid-lowering drugs, are used in the treatment of dyslipidemia that commonly accompanies diabetes. Several reports suggest elevated levels of high-density lipoprotein (HDL) cholesterol, but the paradoxical reduction of HDL cholesterol level during single or combined TZD and fibrate therapies has been occasionally reported. Herein, we report a case of paradoxical decrease in HDL cholesterol and apolipoprotein A-1 levels during rosiglitazone and fenofibrate treatment for the first time in Korea. The patient was a 56-yr-old man presenting with type 2 diabetes mellitus and dyslipidemia. His HDL cholesterol and apolipoprotein A-1 levels returned to normal after the cessation of fenofibrate therapy. Since diabetes is an established risk factor of cardiovascular diseases, low HDL cholesterol can be a key cause of concern for patients with diabetes. Therefore, HDL cholesterol level should be determined before and after starting TZD and/or fibrate therapy in diabetic patients.
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PMID:[HDL cholesterol reduction during rosiglitazone and fenofibrate treatment in a type 2 diabetes mellitus patient with dyslipidemia]. 2019 17

A 56 year old male with a past medical history of hypertension and dyslipidemia presented with recurrent dizziness. Routine EKG was performed, which suggested frequent junctional extra systoles with compensatory pauses. During telemetry periods of 2:1 block with effective ventricular rate of 34 bpm was observed. His bundle study suggested frequent His extra systoles causing functional AV block. Treatment with anti-arrhythmic medication, paradoxically improved AV block and symptoms in our patient.
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PMID:Unusual pauses in sinus rhythm and intermittent 2 to 1 AV block in a patient with concealed his extra systoles--a rare cause of bradycardia. 2023 12

Neurologic events following bee stings are very rare. We report a 59-year-old man who became drowsy with slurred speech following multiple bee stings. In the hospital, he was found to have left-sided hemplegia, seventh cranial nerve palsy, and left conjugate gaze palsy. Further investigation revealed dyslipidemia, impaired glucose tolerance, and a middle cerebral artery territory infarct. His limb weakness and speech improved before his discharge from the hospital.
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PMID:Middle cerebral artery infarct following multiple bee stings. 2070 15

Lipoprotein glomerulopathy (LPG) is a rare disease characterized by the presence of thrombuslike deposition in markedly dilated glomerular capillaries and is often accompanied by an increased serum apolipoprotein E (apoE) level. Several gene mutations of apoE have been reported to be associated with LPG. In the current study, we report an LPG patient with a novel apoE mutation, apoE Osaka. The patient was a 45-year-old man who was hospitalized due to nephrotic syndrome. Light and electron microscopic observations of renal biopsy clearly showed characteristic findings of LPG, including lamellate thrombi in the lumen of dilated glomerular capillaries. His apoE phenotype was apoE3/2 and he had mild dyslipidemia with a mid-band on polyacrylamide gel electrophoresis. It is intriguing that the serum apoE level was within normal limits. We determined the sequence of the apoE gene using direct sequencing of the polymerase chain reaction (PCR) products. ApoE gene analysis showed a nucleotide substitution of G to C at codon 158 of exon 4. This mutation denoted an amino acid substitution of arginine residue for the proline residue at position 158 of apoE. The result of PCR associated with restriction fragment length polymorphism analysis also suggested that this mutation is heterozygous. It is possible that apoE Osaka mutation causes a conformational change of apoE protein and affects the interaction between abnormal apoE-containing lipoproteins and the endothelial cells of glomerular capillaries. The precise mechanism of LPG related with apoE Osaka, however, remains to be elucidated.
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PMID:A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprotein glomerulopathy. 2167 May 60


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