1/8. Rare variant of apolipoprotein E (Arg136 -->Ser) in two normolipidemic individuals. Through the analysis of the common apolipoprotein (apo) E gene polymorphism in large Caucasian population study with the PCR and subsequent restriction analysis, we have identified carriers of mutant allele Arg136-->Ser. Both of them (71-years-old female and her 43-years-old son) have normal lipid parameters. We suggest that Arg136-->Ser mutation in apoE is not necessarily connected with elevated lipid levels in all cases. Furthermore, so far unidentified factors (environmental and/or genetic) are important for the development of lipid metabolism disorders in apoE Arg136-->Ser mutation carriers. ( info) |
2/8. association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome. The association of palmoplantar keratoderma (PPK) with the development of cutaneous squamous cell carcinomas (SCCs), dental anomalies, severe hypogenitalism with hypospadias, abnormal development of gonads with ambiguous external genitalia, gynecomastia, altered plasma sex hormones levels, and hypertriglyceridemia has not, to our knowledge, been reported previously. We describe it in 4 brothers with 46,XX karyotype, whereas the 5 sisters of their consanguineous parents were unaffected. This family may represent a new syndrome. The PPK was of the classical nonepidermolytic histologic type. The proband also had a laryngeal carcinoma diagnosed in his early forties and nodular testicular hyperplasia of leydig cells. ( info) |
| BACKGROUND: cholesterol ester storage disease (CESD) is an autosomal recessive illness that results from mutations in the LIPA gene encoding lysosomal acid lipase. CESD patients present in childhood with hepatomegaly and dyslipidemia characterized by elevated total and low-density lipoprotein cholesterol (LDL-C), with elevated triglycerides and depressed high-density lipoprotein cholesterol (HDL-C). Usual treatment includes a low fat diet and a statin drug. RESULTS: In an 18-year old with CESD, we documented compound heterozygosity for two LIPA mutations: a novel frameshift nonsense mutation and a deletion of exon 8. The patient had been treated with escalating doses of lovastatin for approximately 80 months, with approximately 15% decline in mean LDL-C. The addition of ezetimibe 10 mg to lovastatin 40 mg resulted in an additional approximately 16% decline in mean LDL-C. CONCLUSION: These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group. ( info) |
| proteinuria has been recognized in association with diabetes mellitus as early as the 18th century. This form of renal disease is known as diabetic nephropathy. It is now clear that diabetic nephropathy is the principal cause of end stage renal disease (ESRD) in the western world. According to reports by the united states Renal Data System (USRDS), in the past two decades there has been a continual increase in the incidence of ESRD among patients with diabetes. Many patients have diabetes that progresses to diabetic nephropathy, which is often not discovered until overt nephropathy is present. Many of the complications of diabetes could be minimized if patients received a comprehensive health maintenance program that includes vigorous cardiac risk reduction, routine eye examinations; routine foot examinations; screening and treatment for microalbuminuria, optimal hypertension management; and improved glycemic control. Hence, the key is not only prudent screening of these patients, but referral as well. Using a case study approach, this article illustrates the care of patients with diabetic nephropathy in type 1 diabetes mellitus. ( info) |
5/8. Evaluating and treating cardiometabolic risk factors: a case discussion. Reducing the risk for coronary heart disease (CHD) requires a comprehensive assessment of cardiometabolic risk factors along with the initiation of nonpharmacologic and pharmacologic therapies to mitigate these risk factors. A case study is presented to illustrate the approach to evaluating a patient and selecting among available and emerging therapeutic modalities to reduce CHD risk. ( info) |
6/8. Renal medullary carcinoma in a patient with sickle-cell disease. BACKGROUND: A 36-year-old black male with sickle-cell disease, asthma, and dyslipidemia presented with shortness of breath, chest pain, lethargy, and recent fever. physical examination revealed mild respiratory distress. INVESTIGATIONS: Chest X-ray, CT, abdominal ultrasound, and MRI. diagnosis: Renal medullary carcinoma. ( info) |
7/8. Dyslipidemia in older adults. 3-Hydroxy-3-methylglutaryl coenzyme a reductase inhibitors (statins) have been shown in many large, randomized clinical trials to be safe and highly effective for decreasing low-density lipoprotein cholesterol, thus preventing cardiovascular events and decreasing mortality in patients both with and without prior cardiovascular disease. Statins are also appropriate agents for older adults, although they remain underutilized in this population. This article uses three typical case history presentations to review the most recent clinical trial data and guidelines on statin therapy to provide practical guidance on clinical decision making for lipid-lowering therapy in the geriatric population. ( info) |
8/8. Paradoxically decreased HDL-cholesterol levels associated with rosiglitazone therapy. OBJECTIVE: To report 2 cases of very low high-density lipoprotein cholesterol (HDL-C) levels associated with rosiglitazone therapy. CASE SUMMARY: Two patients with type 2 diabetes taking rosiglitazone for glycemic control developed paradoxically low HDL-C levels during rosiglitazone therapy. In the first patient, the HDL-C level decreased from 33 to 11.6 mg/dL after 8 months of therapy. The second patient's HDL-C level decreased from the baseline level of 44.8 mg/dL to 19.7 mg/dL after 4 months of rosiglitazone use. These abnormalities resolved on discontinuation of rosiglitazone and were not observed when the patients were treated with pioglitazone. The patients had no changes to other drug therapy or medical conditions known to affect lipid metabolism during treatment with rosiglitazone. DISCUSSION: thiazolidinediones, insulin sensitizers widely used in the treatment of type 2 diabetes, have been reported to have beneficial effects on lipids, such as triglyceride lowering and HDL-C elevation, in addition to their glucose-lowering effects. It has been suggested that rosiglitazone and pioglitazone, the 2 currently available thiazolidinediones, may differ in their effects on lipids. As of July 2006, a total of 8 cases of paradoxical lowering of plasma HDL-C associated with rosiglitazone have now been reported. Based on use of the Naranjo probability scale, the 2 cases presented here were probably associated with rosiglitazone. The duration of therapy may be important in this paradoxical effect. CONCLUSIONS: Rosiglitazone is associated with a paradoxical decrease in HDL-C levels in patients with type 2 diabetes. In patients receiving rosiglitazone, a baseline lipid panel should be performed and lipid values should be monitored during the course of therapy. ( info) |