Xantomatosis cerebrotendinosa sin xantomas tendíneos: caso clínico / Cerebrotendinous xanthomatosis: report of one case

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Cerebral magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral white matter, dentate nuclei and spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1 gene. There is considerable variation in clinical characteristics and age of onset of this disease, including absence of tendon xanthomas, delaying the diagnosis. Early recognition and chronic chenodeoxycholic acid therapy can improve outcome and quality of life.

Effect of red and white grapes and their seeds extract on hyperuricemia in rats fed high fructose diet

Hyperuricemia appear to be rapidly increasing worldwide and frequently cause symptoms of metabolic syndrome. Elevated uric acid is influenced by dietary and lifestyle factors, and dietary modification is effective in reducing hyperuricemia. So that, the present study was planned to evaluate the effects of red grapes [5%], white grapes [5%], red grapes seed extract [2.5%], white grapes seed extract [2.5%] in hyperuricemic rats fed high fructose diet [60%] for four weeks. The results indicated that, red grapes, white grapes and both seeds extract were significantly decrease [P<0.05] serum urea, uric acid and creatinine in hyperuricemic rats as compared to the control group [+ve]. There were no significant difference in kidney functions between both grapes pulp and their seed extract on the effect on serum urea, uric acid and creatinine. Also, all types of grapes and their seed extracts were significantly improve [P<0.05] lipid profile and liver functions .It could be concluded that, red and white grapes as well as their seed extracts improved kidney and liver functions and lipid profile. This study is promising and could help in the management of hyperuricemia and hypercholesterolemia. The data presented may offer a promising natural and safe new trend for the prevention or the delay of hyperuricemia

Serum interleukin-10 and interleukin-6 levels in obese women with metabolic syndrome

Obesity, especially visceral obesity, may play a role in the pathophysiology of the metabolic syndrome, and is clearly linked to insulin resistance and increased risk for developing cardiovascular diseases. The metabolic syndrome is characterized by the occurrence of visceral obesity, dyslipidemia [especially high levels of triglycerides and low levels of high density lipoprotein cholesterol], hyperglycemia and hypertension. Although circulating levels of pro-inflammatory cytokines as interleukin-6 [IL-6] and tumor necrosis factor-alpha [TNF-alpha] as well as other markers of inflammation as C-reactive protein [CRP] have been shown to be elevated in obesity, nothing is known about the role of anti-inflammatory cytokines. So, this study was conducted to determine interleukin-10 [IL-10] levels in obese women with or without metabolic syndrome. This study included 3 groups of women, 20 obese women without metabolic syndrome, 20 obese women with metabolic syndrome and 15 normal lean women as a control group. The study showed that CRP levels were significantly elevated in obese women with metabolic syndrome compared with those without metabolic syndrome, and also CRP levels were significantly elevated in obese women with or without metabolic syndrome compared with lean women. IL-6 levels were significantly increased in obese women compared with lean subjects but no significant difference was found between obese women with or without metabolic syndrome. IL-10 levels were significantly increased in obese women with or without metabolic syndrome compared with lean women. Moreover, IL-10 levels were significantly lower in obese women with metabolic syndrome compared with obese women without metabolic syndrome

Effect of virus load on insukin resistance in HCV infected patients

Chronic HCV infection is a multifaceted disease, which is associated with numerous of clinical manifestations. Type 2 diabetes considered another conditions added to HCV complications It is a complex and multisystem disease with a pathophysiology that includes a defect in insulin secretion, increased hepatic glucose production and resistance to the action of insulin Human tumor necrosis factor alpha [TNf alpha] - an unglycozylated polypeptide cytokine- has the ability to inhibit insulin-stimulated glucose uptake. The aim of this study is to investigate the status of insulin resistance expressed as HOMA index in patients with HCV infection, patients with HCV+D.M and its relationship to TNF- alpha level and virus load in comparison with healthy control and another control group with DM but without HCV infection. Group I: control group [n=15], group II: 1-ICV patients [n= 18], group III: HCV patients with D.M [n = 13] and group IV D.M. patients [n=15]. Show that HOMA index was highly significant increased in patients with HCV, HCV+DM and DM compared with control [p<0.001]. Furthermore, patients with HCV+DM had significant increased level in HOMA index compared to those of DM alone [p<0.001]. Serum TNF- alpha level were also significant increased in patients with HCV and HCV + DM compared with patients with D.M alone and to control group [p<0.001]. HCV RNA load showed a significant cotrelation with both HOMA index and TNF-a levels [r=0.81 1 and 0.848, respectively] [p<0.001]. In conclusion this study showed that HCV infection induces insulin resistance through increased TNF- alpha secretion. The degree of insulin resistance is directly proportional to the virus load

Hepatic and renal biochemical responses to the toxicological interaction between acetylsalicylic acid and diazinon in albino rats

The present investigation is aiming at studying the effect of administrating sublethal dose of the insecticide "Diazinon" with and without acetylsalicylic acid [Aspirin, ASA]. Sixty male albino rats were given orally 1/30 LD50 of the insecticide "Diazinon", with and without the high therapeutic dose of acetylsalicylic acid at a dose of [13.5mg/ kg b.w. daily] for 3 weeks. Biochemical indices of liver and kidney functions, namely serum proteins, alanine amino transferase [ALT], aspartate transaminase [AST], alkaline phosphatase [ALP], bilirubin, cholesterol, triglyceride [TG], urea and creatinine levels were determined at the end of the experiment. The present results showed significant changes in serum ALT, AST, ALP, Biliribin, Triglyceride levels. The changes in enzyme levels indicate the toxicity of the insecticide "Diazinon" alone or in combination with the high therapeutic dose of the anti inflammatory drug "acetyl salicylic acid". The treatments did not affect the level of cholesterol or renal excretory function

Role of dyslipidemia in old age of both sexes

To observe the risk of dyslipidemia and variation in other biochemical parameters in old age subjects of both sexes and to observe the relationship of biochemical parameters with the dietary pattern. Seventy males and 30 females, with age ranging from 40-60 years were included in the study. Levels of serum triglyceride, cholesterol, uric acid, blood sugar, blood urea and serum creatinine were estimated. The levels of serum triglyceride and uric acid were significantly increased in both sexes. Other biochemical parameters showed no significant difference. The dietary pattern and life style showed a direct relation with the level of triglyceride as compared to that of serum cholesterol. Levels of triglycerides were found to be elevated in older patients. An education program is needed for the dietary modifications and morning walk that may lead to the lowering of serum triglyceride level

comparative study of lipid profile in children and young adults of the hypertensive and normotensive parents living in Lahore - Pakistan

Two hundred children of hypertensive and normotensive parents belonging to middle income group were studied for cholesterol, HDL - cholesterol, serum triglycerides values and their association with blood pressure. The mean serum cholesterol concentrations within the two groups revealed no significant difference. In the sex matched 5 - 7 and 8 - 10 years age subgroups, mean cholesterol values showed a significant difference [p<0.05]. The mean values of HDLcholesterol on comparison between the two groups were statistically significant [p<0.01]. The mean values of serum triglycerides were found to be significantly higher when compared in two groups [p<0.0001] and when compared male to male and female to female in each groups the mean differences again were significant [p < 0.02] and [p < 0.01]. A significant association [p < 0.002] was observed between systolic blood pressure and serum triglycerides

Effedt of menopause on fertility hormones and associated biochemical parameters

Serum calcium, cholesterol and fertility hormones of fifty two healthy women before and after menopause were investigated. Women who had gone through menopause had elevated levels of Leuteinizing Hormone [LH] [P< 0.0001], and Follicle Stimulating Hormone [FSH] [P< 0.0001], and lower serum Estradio [P< 0.0001]. Mean Progesterone level was 0.6 +/- 0.1 mg/ml during the follicular phase of normal menstrual cycle in premenopausal women and 0.5 +/- 0.1 mg/ml in postmenopausal women. Besides, the serum concentrations of both calcium [P< 0.0001] and cholesterol [P< 0.05] were found higher after menopause. Hence, it is concluded that the pattern of fertility hormones and associated biochemical parameters as observed in our study was identical in trends with corresponding conventional normal values