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.

Cerebrotendinous Xanthomatosis With Spinal Cord Syndrome

No abstract available.

Xantomatosis cerebrotendinosa. A Propósito de un Caso / Cerebrotendinous xanthomatosis. A case report

La xantomatosis cerebrotendinosa (XCT) es un raro desorden del almacenamiento de los lípidos, que se transmite en forma autosómica recesiva y se caracteriza por el depósito de colesterol y colestanol en diferentes tejidos, con preferencia por los tendones, los cristalinos y el sistema nervioso central. El diagnóstico de la enfermedad se confirma con la presencia de β–colestanol en sangre y de alcoholes biliares en orina. Obedece a una mutación del gen CYP27A1 (responsable de la síntesis de la enzima esterol 27-hidrolasa) que mapea en el brazo largo del cromosoma 2. Se manifiesta clínicamente por un deterioro neurológico progresivo, además de la presencia de xantomas tendinosos, cataratas juveniles, arterioesclerosis y diarrea crónica. Las alteraciones aparecen en las primeras dos décadas de la vida, pero el diagnóstico definitivo suele hacerse tardíamente (entre la tercera y la cuarta décadas). La terapéutica consiste en la administración de ácido quenodesoxicólico asociado a pravastatina o simvastatina. El tratamiento temprano y prolongado podría detener la progresión de la enfermedad. Se presenta un paciente de 40 años con esta enfermedad y se hace una descripción actualizada de la misma.

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

Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

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

Estimation of tissue hypothyroidism in patients with overt and subclinical hypothoidism

The clinical score, and tests that reflect tissue hypothyroidism [ankle reflex relaxation time, serum cholesterol level] were reevaluated in the high of the modern laboratory tests of thyroid function. We analyzed 95 female subjects: 40 overt hypothyroid patients, 25 sub clinical hypothyroidism [SCH], and 30 euthyroid control subjects. The clinical score was defined as the sum of the 2 best discriminating signs and symptom. Beside TSH and thyroid hormones, we measured parameters known to reflect tissue manifestations of hypothyroidism, such as ankle reflex relaxation time and total serum cholesterol. So Classical signs and symptoms of hypothyroidism were present only in patients with sever overt hypothyroidism with low T3, It has been found that the clinical score, showed an excellent correlation with ankle reflex relaxation time p < 0.01 and serum cholesterol level p < 0.001, and CK p < 0.01 but not correlated with serum TSH in patient group with overt hypothyroidism. While in subclinical hypothyrodism the clinical score correlate significantly with ankle reflex relaxation time p < 0.01 with fT4 p < 0.01 with serum TSH p < 0.01 but not correlated other parameters It could be concluded That Scoring of symptoms and signs of hypothyroidism with the new clinical score and measurement of ankle reflex relaxation time in addition to routine thyroid function tests is very useful for the individual assessment of thyroid failure and monitoring of treatment

Plasma adiponectin levels in patients with coronary artery disease

Adiponectin, a recently discovered adipocyte-derived peptide, is involved in the regulation of insulin sensitivity and lipid oxidation and purportedly, in the development of atherosclerosis and coronary heart disease in human. The aim of this study was to investigate whether concentrations of plasma adiponectin constitute a significant coronary risk factor, with particular focus on the relation between plasma concentrations of adiponectin and the development of acute coronary syndrome [ACS]. The study was performed on 116 patients with coronary artery disease [CAD] and in 20 control participants. Patients were divided into 3 groups according to condition type: acute myocardial infarction [AMI] group [n = 52], unstable angina pectoris [UAP] group [n = 24] and stable angina [SAP] group [n = 40]. Full history and clinical examination were reported. Measurement of plasma adiponectin. In addition to, glycosylated haemoglobin [HbAl c], fasting concentrations of blood glucose [FBG]. C reactive protein [CRP] and serum lipids were measured in all subjects. Plasma concentrations of adiponectin were significantly lower in patients with AMI and UAP, than controls and those with SAP [P < 0.01], while no significant changes were found in patients with AMI and those with UAP, also no significant changes between control and patients with SAP [P = 50]. CRP levels were significantly higher in patients with AMI and UAP than controls and those with SAP [P < 0.01], significantly higher in patients with AMI than those with UAP [p < 0.05] and in patients with UAP than those with SAP [P < 0.01]. serum levels of adiponectin correlated positively with age [r = 0.570, p < 0.05], and with HDL cholesterol [r = 0.650, p < 0.01] and correlated negatively with total cholesterol [r = -0.560, p < 0.05], LDL cholesterol [r = -0.650, p < 0.01], triglycerides [r = -0.560, p < 0.05], HbAlc [r = -0.570, p < 0.05], FBG [r = -0.540, p < 0.05], Body mass index [BMI] [r = -510, p < 0.05] and CRP [r = -610, p < 0.01]. serum levels of adiponectin were significantly lower in diabetic or hypertensive patients than the rest of patients and significantly higher in females than males in all studied groups. We concluded that plasma concentration of adiponectin is lowered in patients with CAD and their measurement may be of use for assessing the risk of CAD and may be related to the development of ACS

Association of androgenetic alopecia and hyperlipidemia

Several studies have indicated that vertex type androgenetic alopecia have a higher-than-normal risk for coronary heart disease but few studies focused on lipid profiles which are important in the pathogenesis of coronary heart disease. This study was designed to investigate the relation between vertex type androgenetic alopecia [grade III and higher according to Hamilton-Norwood] and hyperlipidemia. In this case-control study, lipid parameters [total cholesterol, triglyceride, LDL cholesterol, HDL cholesterol, total cholesterol/HDL cholesterol ratio] of 50 men with vertex type androgenetic alopecia [study group] were compared with 50 men with normal hair status [control group]. Study group matched according to the age, BMI and habit of smoking with control group. Study group had a higher triglyceride and lower HDL cholesterol levels than control group. Total cholesterol/HDL cholesterol ratio was significantly higher in study group [P<0.05]. Vertex type androgenetic alopecia could be a clinical marker of hyperlipidemia and dermatologists should investigate lipid profile in these patients

Biological study on sesame seeds oil and rapeseeds oil as hypocholesterolemic agents

The present work was conducted to study the effect of sesame oil [SO], rapeseeds oil [RSO] and their combinations with two levels [5and10%] on the nutritional value, percent of liver weight/body weight, lipid parameters [cholesterol, triglycerides, low-density lipoprotein- cholesterol LDL-c, very low-density lipoprotein VLDL-c] kidney function [uric acid and urea nitrogen] and liver function [aspartate amino transferase AST and alanine amino transferase ALT] of hypercholesterolemic rats. Forty-eight male albino rats were divided into two main groups, the first main group [n = 6] fed on basal diet as a negative control group. The second main group [42 rats] fed two weeks on hypercholesterolemic diet. then divided into seven subgroups as a follows: Subgroup [1] fed on hypercholesterolemic diet as a positive control group: [2] fed on hypercholesterolemic diet containing [5% sesame oil - 5% corn oil]; [3] fed on hypercholesterolemic diet containing [10% sesame oil]; [4] fed on hypercholesterolemic diet containing [5% rapeseeds oil + 5% corn oil]; [5] fed on hypercholesterolemic diet containing [10% rapeseeds oil]; [6] fed on hypercholesterolemic diet containing [2.5% sesame oil + 2.5% rapeseeds oil + 5% corn oil] and subgroup [7] fed on hypercholesterolemic diet containing [5% sesame oil + 5% rapeseeds oil]. Addition of sesame oil, rapeseeds oil and their combinations to hypercholesterolemic diets improved body weight gain%, and the percent liver weight / body weight, especially [the high levels of oils]. The mean values of serum cholesterol, triglycerides, LDL-c, VLDL-c, uric acid, urea nitrogen, AST and ALT decreased in all treated groups with [sesame oil, rapeseeds oil and their combinations], as compared to the positive control group, while HDL-c increased. It was concluded that high level of rapeseeds oil and the combinations of oils [5 and 10%] realized the best effect on lipid profile, kidney and liver functions

Mitochondrial cytochrome C and ultrastructural changes in hepatic steatosis induced by hepatitis C virus

Hepatic steatosis is an important hallmark of hepatitis C virus [HCV] infection. There is substantial body of evidence to implicate steatosis in the development of hepatic fibrosis. The underlying mechanisms of HCV-related steatosis however are not yet clarified. This study was performed to evaluate ultrastructural mitochondrial changes in patients with HCV-induced hepatic steatosis and correlate these findings with serum cytochrome c and apolipoproteins. Thirty-seven HCV-positive patients admitted to Theodore-Bilharz Research Institute were selected. They did not have other confounding prosteatogenic variables: diabetes, overweight, alcohol consumption and prosteatogenic drugs as amiodarone; corticosteroids. In addition, 10 apparently age- matched subjects were selected as a reference group. All subjects were initially subjected to full history, thorough clinical examination, liver function tests; lipid profile, HCV-IgG antibody and hepatitis-B surface antigen. All patients were subjected to ultrasound-guided liver biopsy. Biopsy specimen was processed for light and electron microscopic histopathological examination. According to histopathological findings, patients were divided into 4 groups according to the stage of fibrosis[I, II, III and IV]into :-Group 1 [n=7]; Group 2 [n=9]; Group:3 [n=9] and Group 4 [n=12]or cirrhotic group respectively. Measurement of apolipoproteins A, B and II and specific estimation of serum cytochrome-C was performed. Interpretation of the results revealed accumulated fat droplets by ultrastructure identification in the hepatocytes together with hypobetalipoproteinemia and hypotriglyceridemia. This was accompanied with mitochondrial ultrastructural alterations in all the studied groups ranging from complete dissolution to loss of outer mitochondria] membrane. In addition, it is noteworthy that ultrastructural changes of the rough endoplasmic reticulum [RER] detected in this study may be a contributing factor to abnormal fat metabolism in HCV. Concomittantly, serum cytochrome c was significantly lowered in all the studied groups as compared to the reference mean value. Depletion of mitochondria] cytochrme c might result in accumulation of reactive oxygen species and further accentuation of steatosis. There was significant correlation between serum cytochrome c, apolipoprotein B and serum triglycerides in the patients' group, ushering that it might have its role in HCV-induced lipid changes. In the cirrhotic group, ultrastructural elucidation of homogenous unlocalized intracytoplasmic fat and evident intracytoplasmic collagen fibrils was reported in this study. This was associated with significantly lowered serum ApoAl, ApoB and triglycerides as compared to all other groups. The afore-mentioned data solidifies the evidence that hepatic steatosis and fibrosis are important sequence of HCV infection and confirm the ability of hepatocyte to synthesize collagen. Moreover, the discerned intracytoplasmic unsaturated fat droplets might mirror the inability of the HCV-dysfunctioning hepatocyte to cope with the excessive dietary intake of fat and hence accentuation of steatosis results. In conclusion, ultrastructural. mitochondrial and RER changes seems to confirm their relation- to the associated intracytoplasmic fatty acids accumulation, the decreased serum cytochrome c and apolipoproteins Al and B Moreover it confirms the cytopathic effect of HCV

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

Beneficial effects of concomitant administration of coenzyme Q10 with simvastatin in the management of atherosclerosis

With the strong correlation between the development of coronary heart disease and elevated levels of total cholesterol and low-density lipoprotein cholesterol [LDL-C], therapies that significantly lower lipid levels will be widely prescribed.Inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A [HMG-CoA] reductase [statins] constitute the most powerful class of hypolipidemic drugs currently available Several large clinical trials have shown that these drugs reduce major cardiovascular events by 20-30%. The objective of the current study is to demonstrate the effect of concomitant use of coenzyme Q10 and simvastatin in treatment of atherosclerosis as a trial to augment the antiatherogenic effect of simvastatin and to decrease its undesirable effects. Five groups of adult male rabbits were included, an untreated control group, hypercholesterolemic group, hypercholesterolemic group treated with simvastatin[2.5 mg / kg/ day], hypercholesterolemic group treated with Co Q10 [3 mg/ kg per day]and hypercholesterolemic group treated with both simvastatin and Co Ql0 for 6 weeks.At the end of experiment, serum level of total cholesterol [TC], low density lipoprotein cholesterol [LDL-C], high density lipoprotein cholesterol [HDL-C], triglycerides[TG], alanine aminotransferase [ALT], aspartate aminotransferase [AST] and creatine kinase [CK] were estimated. Histopathological evaluation of tissue sections from liver, medium sized and large arteries was also performed. Each of Co Q10 simvastatin and combination of both produced improvement in serum lipids, Co Q10 decreased the hypercholesterolemia induced elevation of serum transaminases while combination of Co Q10 with simvastatin augmented the antiatherogenic effect of simvastatin and decreased both imvastatin induced increase in serum transaminases and rimvastatiri induced increase in serum creatine kinase. In conclusion, Co Q1O administration augment the hypolipidemic and antiatherogenic effects of simvastatin and improve its important side effects such as myopathy and elevation of serum transaminases

Effects of aerobic exercise on control of hyperglycemia in type II diabetes mellitus.

This study was carried out to evaluate the effects of exercise on the diabetic control of 22 female patients with type II diabetes mellitus. A regular aerobic exercise was done every other day for 30 minutes over a period of four weeks. At the end of the study, blood sugar, blood lipids and body mass index were compared with the same parameters at the start of the study. The results showed that there was a significant decrease in fasting and postprandial blood sugar level. The fasting blood glucose was decreased from 179.6 +/- 76.3 mg/dl to reach 149.5 +/- 69.7 mg/dl, this was statistically significant. Postprandial blood glucose decreased from 239.5 +/- 88.8 mg/dl to reach 204.1 +/- 97.1 mg/dl, this was statistically significant. Also, there was a significant decrease in serum triglycerides after exercise. The fasting serum triglyceride before exercise was 122.5 +/- 42.2 mg/dl and after the exercise was 106.8 +/- 341 mg/dl, this was statistically significant. The decrease in serum cholesterol, LDL and body mass index had no statistical significance and also the changes in HDL were of no statistical significance

Hypoglycemic effect of fenugreek seeds in type 2 diabetes mellitus: clinical study

This study aimed to evaluate the effect of fenugreek seed diet supplementation on blood glucose and lipid profile in type 2 diabetic patients. These effects were attributed to active biological substances in the seeds that include saponins, alkaloids, amino acids, galactomannan, nicotinic acid, vitamins and minerals. Diabetic subjects were divided into 5 groups, 20 patients each. The control group received only a regular diabetic diet and the other groups followed the same diet in addition to fenugreek supplement that varied according to the group. Four processed types of seeds were implemented in the study involving the oral intake of boiled fenugreek [BF], fenugreek seed powder [PF], germinated fenugreek [GF] and defatted fenugreek [DF]. The results demonstrated the usefulness of fenugreek seeds as a dietary supplement of therapeutic and nutritive value in the management of type 2 diabetes

A Case of Cerebrotendinous Xanthomatosis / 대한피부과학회지

Cerebrotendinous xanthomatosis is a rare, inherited lipid-storage disease clinically characterized by tendon xanthoma, progressive neurologic dysfunction(cerebellar ataxia, spinal cord involvement, mental retardation), premature atherosclerosis and cataracts. Substantial elevation of serum cholestanol and urinary bile alcohols with low to normal plasma cholesterol concentrations establishes the diagnosis. Up to now, there have not been any reported case of cerebrotendinous xanthomatosis in Korea. So, we report herein a 36-year-old Korean woman with the clinical features of cerebrotendinous xanthomatosis.

A Case of Cerebrotendinous Xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive lipid-storage disease with abnormal deposition of cholesterol and cholestanol in multiple tissues. The disease is caused by mutations in the sterol 27-hydroxylase and characterized by tendon xanthoma, premature cataracts and various neurological manifestations in the central and peripheral nervous systems. A 47-year-old man presented with unsteadiness of gait and weakness on extremities. He had a bilateral cataract extraction at the age of 30 years. Physical examination revealed bilateral elongated mass on Achilles tendons. On neurologic examination, dysarthria, spastic quadriparesis and exaggerated deep tendon reflexes were noted. Surgical excisional biopsy of Achilles tendon revealed a crystalline clefts surrounded by many multinucle-ated giant cells. A moderate degree of cerebral and cerebellar cortical atrophy and focal high signal intensities in sub-cortical white matter were noted on T2-weighted magnetic resonance images. Serum cholestanol was elevated (22 Mg/ml ; normal <2 Mg/ml), while serum cholesterol was normal (186 mg/dl ; normal <250 mg/dl). With clinical, radiologi-cal and biochemical findings, we confirmed a rare case of cerebrotendinous xanthomatosis.