Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy / Perda visual como primeira manifestação clínica de adrenoleucodistrofia ligada ao X

Abstract X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold. Visual changes may be present, but they often appear later in the disease. We describe here the case of a 9-year-old boy with X-ALD, whose first symptom was visual loss, which began at 8 years of age. His ophthalmologic evaluation revealed no alterations. Shortly thereafter, he suffered a head injury. The magnetic resonance imaging of brain revealed findings that led to the suspicion of X-ALD. The plasma VLCFA dosage confirmed this diagnosis. This report aims toshow that in cases of visual loss with a normal ophthalmic examination, a high index of suspicion should be given for conditions suchas X-ALD, since it affects the cortical routes related to vision. Fundoscopy findings appear late in X-ALD.

Resumo A adrenoleucodistrofia ligada ao X (X-ALD) representa um grupo de doenças caracterizadas pelo acúmulo de ácidos graxos de cadeia muito longa (VLCFAs) nos tecidos. Suas manifestações clínicas costumam ser múltiplas. Alterações visuais podem estar presentes, contudo costumam surgir mais tardiamente na doença. Descrevemos aqui o caso de um menino de 9 anos com X-ALD, cujo primeiro sintoma foi perda visual, iniciada aos 8 anos de idade. A sua avaliação oftalmológica não revelou alterações. Pouco tempo depois, ele sofreu um traumatismo craniano. A imagem de ressonância magnética de encéfalo revelou achados que levaram a suspeita de X-ALD. A dosagem dos VLCFAs no plasma confirmou este diagnóstico. Este relato tem como objetivo mostrar que em casos de perda visual com um exame oftalmológico normal, deve-se ter um alto índice de suspeita para condições como a X-ALD, pois a mesma afeta as vias corticais relacionadas à visão. Nessa doença, os achados da fundoscopia aparecem mais tardiamente.

The role of moderate-to-vigorous physical activity in mediating the relationship between central adiposity and immunometabolic profile in postmenopausal women

ABSTRACT Objectives To analyze the role of moderate-to-vigorous physical activity (MVPA) in mediating the relationship between central adiposity and immune and metabolic profile in postmenopausal women. Materials and methods Cross-sectional study comprising 49 postmenopausal women (aged 59.26 ± 8.32 years) without regular physical exercise practice. Body composition was measured by dual-energy X-ray absorptiometry. Fasting blood samples were collected for assessment of nonesterified fatty acids, tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6), adiponectin, insulin and estimation of insulin resistance (HOMA-IR). Physical activity level was assessed with an accelerometer (Actigraph GTX3x) and reported as a percentage of time spent in sedentary behavior and MVPA. All analyses were performed using the software SPSS 17.0, with a significance level set at 5%. Results Sedentary women had a positive relationship between trunk fat and IL-6 (rho = 0.471; p = 0.020), and trunk fat and HOMA-IR (rho = 0.418; p = 0.042). Adiponectin and fat mass (%) were only positively correlated in physically active women (rho = 0.441; p = 0.027). Physically active women with normal trunk fat values presented a 14.7% lower chance of having increased HOMA-IR levels (β [95%CI] = 0.147 [0.027; 0.811]). Conclusions The practice of sufficient levels of MVPA was a protective factor against immunometabolic disorders in postmenopausal women.

Duodenal-jejunal bypass normalizes pancreatic islet proliferation rate and function but not hepatic steatosis in hypothalamic obese rats

Modifications in life-style and/or pharmacotherapies contribute to weight loss and ameliorate the metabolic profile of diet-induced obese humans and rodents. Since these strategies fail to treat hypothalamic obesity, we have assessed the possible mechanisms by which duodenal-jejunal bypass (DJB) surgery regulates hepatic lipid metabolism and the morphophysiology of pancreatic islets, in hypothalamic obese (HyO) rats. During the first 5 days of life, male Wistar rats received subcutaneous injections of monosodium glutamate (4 g/kg body weight, HyO group), or saline (CTL). At 90 days of age, HyO rats were randomly subjected to DJB (HyO DJB group) or sham surgery (HyO Sham group). HyO Sham rats were morbidly obese, insulin resistant, hypertriglyceridemic and displayed higher serum concentrations of non-esterified fatty acids (NEFA) and hepatic triglyceride (TG). These effects were associated with higher expressions of the lipogenic genes and fatty acid synthase (FASN) protein content in the liver. Furthermore, hepatic genes involved in β-oxidation and TG export were down-regulated in HyO rats. In addition, these rats exhibited hyperinsulinemia, β-cell hypersecretion, a higher percentage of islets and β-cell area/pancreas section, and enhanced nuclear content of Ki67 protein in islet-cells. At 2 months after DJB surgery, serum concentrations of TG and NEFA, but not hepatic TG accumulation and gene and protein expressions, were normalized in HyO rats. Insulin release and Ki67 positive cells were also normalized in HyO DJB islets. In conclusion, DJB decreased islet-cell proliferation, normalized insulinemia, and ameliorated insulin sensitivity and plasma lipid profile, independently of changes in hepatic metabolism.

Serum Adipokine Levels and their Relationship with Fatty Acids in Patients with Chronic Periodontitis

Adipokines are present in inflammatory processes and may be directly related to periodontal disease. Moreover, their activities may be regulated by fatty acids. The goal of this study was to quantify the concentrations of the main adipokines, leptin, adiponectin and resistin, and the docosahexaenoic (DHA), docosapentaenoic (DPA), eicosapentaenoic (EPA) and arachidonic (AA) fatty acids, in patients with generalized chronic periodontitis. As a secondary objective, the ratios of these substances in the blood of these patients were evaluated. The study included 15 systemically healthy patients with generalized chronic periodontitis (test group) and 15 patients with gingivitis (control group). Medical and periodontal parameters and blood samples were collected. Serum concentrations of fatty acids were analyzed by gas chromatography and adipokines by multiplex bead immunoassay. There was no significant difference in adipokines between groups. However, there was a tendency for lower values of adiponectin in periodontitis patients. Regarding the fatty acids, they were significantly higher in the test group compared with controls. The res/DHA, res/AA, adipon/DHA, adipon/AA and adipon/DPA ratios were significantly lower in the test group. There was no significant correlation between adipokines and clinical parameters and between adipokines and fatty acids levels. It was concluded that generalized chronic periodontitis patients showed significantly higher levels of fatty acids in comparison to gingivitis; adiponectin revealed a trend to lower values in the periodontitis group, even after Ancova correction. The ratios suggest a minor proportion of adiponectin and resistin in relation to the fatty acids in patients with generalized chronic periodontitis.

As adipocinas estão presentes em processos inflamatórios e podem estar diretamente relacionadas à doença periodontal. Além disso, suas atividades podem ser reguladas pelos ácidos graxos. Este estudo teve como objetivo quantificar as concentrações das principais adipocinas, leptina, adiponectina e resistina, e dos ácidos graxos: ácido docosahexaenóico (DHA), ácido docosapentaenóico (DPA), ácido eicosapentaenóico (EPA) e ácido araquidônico (AA), em pacientes com periodontite crônica generalizada. Como objetivo secundário, avaliar as proporções destas substâncias no sangue desses pacientes. O estudo incluiu 15 pacientes sistemicamente saudáveis com periodontite crônica generalizada (grupo teste) e 15 com gengivite (grupo controle). Foram coletados parâmetros médicos e periodontais e amostras de sangue. As concentrações séricas dos ácidos graxos foram analisadas por cromatografia gasosa e as das adipocinas foram analisadas pelo método multiensaio multiplex. Não houve diferença significativa entre os níveis de adipocinas entre os grupos. No entanto, houve uma tendência para menores valores nos níveis da adiponectina nos pacientes com periodontite. Com relação aos ácidos graxos, os valores foram significativamente maiores no grupo teste em comparação com os controles. As razões entre res/DHA, res/AA, adipon/DHA, adipon/AA e adipon/DPA foram significativamente menores no grupo teste. Não houve correlação significativa entre as adipocinas e os parâmetros clínicos e entre os níveis de adipocinas e ácidos graxos. Conclui-se que pacientes com periodontite crônica generalizada apresentaram níveis significativamente maiores de ácidos graxos em relação à gengivite, adiponectina apresentou uma tendência a valores menores no grupo periodontite, mesmo após a correção de Ancova. Os resultados das razões sugerem uma menor proporção de adiponectina e resistina em relação aos ácidos graxos em pacientes com periodontite crônica generalizada.

Isolated Cerebellar Variant of Adrenoleukodystrophy with a de novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.

Effect of trimetazidine treatment on the transient outward potassium current of the left ventricular myocytes of rats with streptozotocin-induced type 1 diabetes mellitus

Cardiovascular complications are a leading cause of mortality in patients with diabetes mellitus (DM). The present study was designed to investigate the effects of trimetazidine (TMZ), an anti-angina drug, on transient outward potassium current (Ito) remodeling in ventricular myocytes and the plasma contents of free fatty acid (FFA) and glucose in DM. Sprague-Dawley rats, 8 weeks old and weighing 200-250 g, were randomly divided into three groups of 20 animals each. The control group was injected with vehicle (1 mM citrate buffer), the DM group was injected with 65 mg/kg streptozotocin (STZ) for induction of type 1 DM, and the DM + TMZ group was injected with the same dose of STZ followed by a 4-week treatment with TMZ (60 mg·kg-1·day-1). All animals were then euthanized and their hearts excised and subjected to electrophysiological measurements or gene expression analyses. TMZ exposure significantly reversed the increased plasma FFA level in diabetic rats, but failed to change the plasma glucose level. The amplitude of Ito was significantly decreased in left ventricular myocytes from diabetic rats relative to control animals (6.25 ± 1.45 vs 20.72 ± 2.93 pA/pF at +40 mV). The DM-associated Ito reduction was attenuated by TMZ. Moreover, TMZ treatment reversed the increased expression of the channel-forming alpha subunit Kv1.4 and the decreased expression of Kv4.2 and Kv4.3 in diabetic rat hearts. These data demonstrate that TMZ can normalize, or partially normalize, the increased plasma FFA content, the reduced Ito of ventricular myocytes, and the altered expression Kv1.4, Kv4.2, and Kv4.3 in type 1 DM.

Enfermedad de Addison en un niño con adrenoleucodistrofia ligada al cromosoma X / Primary adrenal failure associated to X-linked adrenoleukodystrophy: report of one case

Primary adrenal failure (PAF) can be congenital or acquired. X-linked adrenoleukodystrophy (ALD-X), produced by the mutation of the ABDC1 gene (Xq28), that leads to the plasma accumulation of very long chain fatty acids, is one of the congenital diseases associated to adrenal destruction. We report a 7 years old boy with fast progression of right strabismus and general symptoms as weariness, weakness and mucosal and skin pigmentation. A brain magnetic resonance image showed a leukoencephalopathy, characteristic of ALD-X. Low plasma cortisol, high ACTH levels and lack of response to ACTH test, confirmed the diagnosis of primary adrenal insufficiency. High plasma levels of C26:0 fatty acids, and C24/22, C26/22 ratios confirmed ALD-X.

[Plasma fatty acids Profile and lipids in Tunisian male elite athletes]

Growing interest is accorded to polyunsaturated fatty acids [PUFAs] 3, which are considered beneficial for health. To investigate the effect of sports on plasma lipids and fatty acids [FAs], especially 6 and 3 PUFAs and the 6/3 ratio. The study included 75 Tunisian male elite athletes, practicing team sport and 70 sedentary healthy men as controls. Plasma FAs profile was analyzed by gas chromatography. Comparison between groups was performed using a univariate GLM analysis, with adjustment on age, body mass and energy intake. Athletes showed lower triglycerides and saturated FAs [27.64% +/- 2.17% vs. 30.41% +/- 4.35%] and increased HDL cholesterol and monounsaturated FAs [21.19% +/- 2 44% vs. 19.12% +/- 3.03%]. However, there was no significant difference in total PUFAs, 6 and 3 families and 6/3 ratio [10.15% +/- 3.24% vs. 10.20% +/- 3.37%] between athletes and sedentary. Sport favorably modifies the profile of plasma FAs by increasing monounsaturated FAs at the expense of saturated FAs, but has no effect on total PUFAs, and 6 and 3 families. A diet rich in 3 PUFAs would lower the 6/3 ratio, in order to improve the health and probably the performance of athletes

association between elevated serum free fatty acids in the third trimester of pregnancy and preterm delivery

Preterm delivery is not only an important cause of neonatal morbidity and mortality, but also its long term effect causes severe problems for the off spring and for the mother. We conducted a case control study to evaluate the association between elevated serum total free fatty acids [FFAs] in the third trimester of pregnancy and the incidence of preterm delivery. Twenty preterm [gestational age 28-34 weeks] and 20 control women [gestational age>37 weeks] registered to El Shatby Maternity University Hospital were evaluated. Preterm delivery was based on ultrasonographic assessment of cervical length less than 2.5 cm and cervical dilatation>10mm in primigravida and 20-30 mm in multigravida. Evaluation of serum fasting FFAs in the third trimester was done for cases of preterm delivery and their matched controls of term delivery. Also, pregnancy complications of foetal birth weight and incidence of admission to neonatal intensive care unit were assessed. Data were gathered from women who delivered in addition to their caring obstetricians involved as well as reviewing their medical records. The mean level of FFAs was significantly elevated in preterm cases compared to term control [442.3 +/- 51.47, 315.15 +/- 69.14 respectively, P=0.001]. Women with high levels of serum FFAs had more than two folds increased risk for preterm delivery OR [2.5], 95% [CI] 1.2-2.4, p<0.001. Also, high FFAs levels were associated with increased incidence of neonatal admission to Neonatal Intensive Care Unit. This study suggests that elevated total serum FFAs during the third trimester of pregnancy might be a predisposing factor for preterm delivery in non obese uncomplicated pregnant women. Also, these changes of maternal lipid metabolism may influence FFAs delivery to the foetus that can affect foetal growth

Importância da gordura alimentar na prevenção e no controle de distúrbios metabólicos e da doença cardiovascular: [revisão] / Importance of the dietary fat on the prevention and control of metabolic disturbances and cardiovascular disease: [review]

A Organização Mundial da Saúde (OMS) reiterou recentemente que o consumo de dietas inadequadas e a inatividade física estão entre os dez principais fatores de mortalidade. Diversos ensaios aleatorizados demonstram que intervenções alimentares adequadas podem diminuir ou prevenir significativamente o aparecimento de várias doenças crônicas não transmissíveis. Neste contexto, o papel da dieta vem sendo exaustivamente avaliado em estudos clínicos e epidemiológicos. Assim, já foi bem estabelecido na literatura que a quantidade e o tipo de gordura alimentar exercem influência direta sobre fatores de risco cardiovascular, tais como a concentração de lípides e de lipoproteínas plasmáticas, bem como sua associação a processos inflamatórios. Os ácidos graxos participam de complexos sistemas de sinalização intracelular, função que vem sendo bastante explorada. Os ácidos graxos poli-insaturados não somente influenciam a composição das membranas, metabolismo celular e sinais de tradução, mas também modulam a expressão de genes, regulando a atividade e a produção de diversos fatores de transcrição. A proposta deste artigo é rever tópicos relevantes referentes ao metabolismo de lípides e os relacionar a terapias nutricionais que possam contribuir para a prevenção e o tratamento de doenças associadas.

The World Health Organization (WHO) has recently reinforced the fact that inadequate diets, along with physical inactivity, are among the ten main determinant factors of mortality. Several randomized trials demonstrated that dietary interventions may lower or even prevent the occurrence of several non-communicable diseases. In this context, the role of diet has been exhaustively evaluated in several clinical and epidemiological studies. Thus, it is well established in literature that the amount and type of dietary fat have a direct influence on cardiovascular risk factors, such as lipids and plasma lipoprotein concentration, as well as their association with inflammatory processes. Fatty acids also participate in complex intracellular signaling systems, a function which has been currently investigated. Dietary polyunsaturated fatty acids (PUFA) act not only by altering membrane lipid composition, cellular metabolism and signal transduction, but also modulating gene expression by regulating the activity and/or production of different nuclear transcription factors. The aim of this article is to review important topics regarding the lipids metabolism and correlate them with nutritional therapies that may contribute to the prevention and treatment of related diseases.

Effect of date stones supplementation in diet on lipid fractions, liver function and fatty acid composition of rats

This study presents the effects of powder date stones on lipid fractions [total cholesterol, total lipids, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol and very low-density lipoprotein cholesterol] of the plasma and liver of rats, as well as fatty acid composition and the activities of liver function enzymes. These enzymes include plasma glutamate pyruvate, glutamate oxaloacetate transaminases, lactate dehydrogenase, alkaline phosphatase and g-glutamyl transferase were tested in rats, fed synthetic diet which were supplemented with different concentrations of powder date stones 0.0%, 2.0%, 4.0% and 6.0% [8 rats for each group] for 5 weeks. As well as determined of chemical composition and minerals in powder of dale stones. The results of chemical Composition for date stones powder were 7.84%, 2.88%, 13.76%, 4.01%, and 71.5!% for crude protein, crude fat, crude fiber, ash and NFE on dry matter respectively, Mineral content of date stones powder was 687.5, 64, 65.5, 55, 4.5, 2.15 and 1.23 mg/100g for K, Ca, P, Mg. Na, Fe and Cu on dry matter respectively. The body weight gain of rats has significant increase in group 3, with level 4.Og powder stones /100 g diet, comparing with control group. The feed intake in group 2, with level 2.0g powder stones /100 g diet, significantly increased in the 2nd, 3rd and 4th week [93.73, 98.90 and 100.8 gm. /day respectively] comparing with control group. While in the end of 5th week, it was significantly increased in group 3 comparing with control group 105.78 gm. /day. The relative weight of spleen and heart in group 4, with level 6.0g powder stones /100 g diet, significantly decreased comparing with control group. Also, the relative weight of kidney and liver for group 3 significantly decreased comparing with control group. Group 2 significantly decreased in plasma total cholesterol and plasma LDL-cholesterol comparing with control. In compatible, plasma total lipid, triglycerides and plasma VLDL-cholesterol were significantly decreased in group 4 [170.6, 175.5, 160.6, 181.8 and 190.9 mg/dl. respectively] comparing with control group. On the other hand, plasma HDL cholesterol significantly increased in group 2 comparing with control group. Total cholesterol, total lipid and triglyceride of liver were significantly decreased in group 4 [4.1, 30.7and 19.76 mg/g respectively] comparing with control group. The fatty acids composition in liver was Palmitic [C16:0], Palmitoleic [C16:1], Stearic [Cl8:0], Linoleic [C18:2], Linolenic [C18:3] and Lignoceric [C24:0], which were significantly increased comparing with control group. This study showed that date palm pollen grains played a role in lowering lipid fractions and protected the liver by maintenance of liver function enzymes activity

Relations between serum essential fatty acids, cytokines [Il-6 and IL-8], apoptotic marker [SFAS], and free radicals in egyptian patients with autoimmune diseases

Eicosanoids, lymphokines, free radicals and apoptotic marker are known to participate in the pathogenesis of inflammation. The aim of this study was to investigate the relations between free radical generation, interleukins [IL-6 and IL-8], apoptotic marker soluble Fas [sFas], and the level of essential fatty acids and their metabolites in patients with autoimmune diseases. The study was conducted on 37 patients admitted to Rheumatology Unit Hospital of Ain Shams University, in addition there was 10 control subjects. The patients suffered from different types of autoimmune diseases according to their criteria, Rheumatoid arthritis [RA], systemic lupus erythematosus [SLE], systemic sclerosis [SSC] and overlap syndrome. Serum levels of total glutathione [reduced; GSH and oxidized; GSSG] were estimated by HPLC; serum MDA, IL-6, IL-8 and sFas were also assayed. In addition serum fatty acids were determined by using GLC. The inflammations resulting from the studied autoimmune diseases induced significant decrease in serum level of GSH, and marked increase in the levels of GSSG, MDA, IL-6, IL-8 and sFas whereas serum fatty acid revealed that Linoleicacid [LA] and alpha linolenic acid [ALA] were significantly decreased in the studied cases. LA metabolite [arochidonic acid; AA] is markedly increase while ALA metabolite [eicosapentaenoic; EPA] and docosahexaenoic [DHA] were significantly increased. These results suggest that essential fatty acid metabolism is altered in autoimmune diseases. The interactions between essential fatty acids, eicosanoids, lymphokines and free radicals suggest that new therapeutic strategies can be devised to modify the course of these diseases

Serum concentrations of fatty acids and colorectal adenoma risk: a case-control study in Japan.

BACKGROUND: Epidemiologic studies of n-3 fatty acids (FAs) and risk of colorectal cancer have generated inconsistent results, and relations with precursor colorectal adenomas (CRA) have not been evaluated in detail. We here focused on possible associations of serum FAs with CRA in the Japanese population. METHODS: We conducted a case-control study of 203 asymptomatic CRA cases (148 men, 55 women) and 179 healthy controls (67 men, 112 women) during 1997-2003 in Nagoya, Japan. Baseline information was obtained using a lifestyle questionnaire and serum FA levels were measured by gas chromatography. RESULTS: A non-significant inverse association with CRA was observed for eicosapentaenoic acid (EPA) among women. Moreover, the concentrations of docosahexaenoeic acid (DHA), a major component of n-3 highly-unsaturated FAs (HUFAs), were significantly lower in cases in both sexes. In addition, serum concentrations of total FAs, saturated FAs (SFAs) and mono-unsaturated FAs (MUFAs) had strong positive links with CRA risk. In contrast, arachidonic acid (AA) and DHA were inversely related, with 66% and 59% risk reduction, respectively. Ratios of SFAs/n-3 PUFAs and SFAs/n-3 HUFAs exhibited significant positive relations with CRA risk but there was no clear link with n-6 PUFAs/n-3 PUFAs. CONCLUSIONS: Our findings suggest a promoting influence of SFAs and MUFAs along with a protective effect of DHA on CRA risk. However, further research is needed to investigate the observed discrepancy with the generally accepted roles of the AA cascade in carcinogenesis.

Use of high fiber waste to produce low-fat baton saleh and its metabolic effects in rats

Low-fat baton saleh was produced by partial replacement of butter oil of the control with different sources of fiber-based fat replacer. The best five treatment [sensory evaluation basis] as well as control were evaluated in rats to test their effects on serum lipids [total cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides and VLDL], fatty acid composition of rat liver and kidney lipids, body weight gain and organs weights. Feeding rats low-fat baton saleh diets prepared with different fat replacers and two level [30% for rice bran, pomegranate peels and peanut hulls, 45% for guava seeds and chickpea hulls] resulted in a significant decrease in total serum cholesterol, low- density lipoprotein [LDL-cholesterol, triglycerides [TG] and VLDL compared to rats fed the control diet. Liver and kidney lipids in rats fed the low-fat baton saleh diets had lower percentages of palmitics, stearic, myristic, and palmitoleic acids compared to the control. In contrast, percent compositions of linoleic and linolenic acids were greater in rats fed low-fat baton saleh diets

Erythrocyte membrane, plasma and atherosclerotic plaque lipid pattern in coronary heart disease / Perfil lipídico de membrana de eritrocito, plasma y placa ateromatosa en la enfermedad coronaria

The objective was to analyze the lipid composition of the atherosclerotic plaque (AP), plasma and erythrocyte membrane (EM) in patients with advanced coronary heart disease (CHD). AP were obtained through endarterectomy in 18 patients. Ten normolipemic healthy subjects were selected to obtain the normal lipid pattern profile. Total lipids of AP and EM were determined by HPTLC, and the fatty acid profile from AP, EM and plasma using TLC-FID. The relative amount of the lipid species analyzed in AP was in line with the data in the literature [phospholipids: 23.5 mol% more or less 3.5; total cholesterol 68.9 mol% more or less 7.9; triglyceride 7.6 mol% more or less 3.4]. Plasma and EM from CHD patients compared to controls, showed a decrease in polyunsaturated fatty acids and an increase in saturated fatty acids leading to a decrease in the unsaturation index (plasma: 1.67 more or less 0.06 vs. 1.28 more or less 0.03, P less than 0.05; EM: 2.28 more or less 0.04 vs. 1.25 more or less 0.010, P less than 0.05) and an enhancement in the saturated/unsaturated ratio (plasma: 0.35 more or less 0.02 vs. 0.52 more or less 0.02, P less than 0.05; EM: 0.45 more or less 0.01 vs. 0.83 more or less 0.04, P less than 0.05). These data are consistent with an essential fatty acid deficiency. Total cholesterol was increased in the CHD's EM (32.3 more or less 0.8 vs. 40.6 more or less 2.5, P less than 0.05) with a decrease in phospholipid percentage (67.7 more or less 0.7 vs. 59.4 more or less 2.6, P less than 0.05) indicating an alteration in membrane fluidity. These findings suggest changes in EM lipids in CHD patients in spite of different pathological conditions such as age, smoking status and diabetes. The analysis of the lipid composition of EM could provide a useful tool to monitor the evolution of the CHD.

El objetivo fue analizar la composición lipídica de las membranas de eritrocitos (ME), plasma y placas ateromatosas (PA) en pacientes con enfermedad coronaria avanzada (ECV). Las PA fueron obtenidas de endarterectomías coronarias de 18 pacientes. Fueron seleccionados 10 sujetos sanos, normolipémicos, como grupo control. Los lípidos totales de PA y ME se determinaron utilizando HPTLC, y el perfil de ácidos grasos de las PA, ME y plasma mediante TLC-FID. La cantidad relativa de las especies lipídicas obtenidas de las PA coinciden con la literatura [fosfolípidos 23.5 mol% más o menos 3.5; colesterol total 68.9 mol% más o menos 7.9; triglicéridos 7.6 mol% más o menos 3.4]. En el plasma y en las ME de los pacientes con ECV se observó, comparando con los pacientes controles, una disminución de los ácidos grasos poli-no saturados acompañado de un aumento de los ácidos grasos saturados que provocó el descenso del índice de instauración (plasma: 1.67 más o menos 0.06 vs. 1.28 más o menos 0.03, P menor que 0.05; ME: 2.28 más o menos 0.04 vs. 1.25 más o menos 0.010, P menor que 0.05) y el incremento del cociente AG saturados/insaturados (plasma: 0.35 más o menso 0.02 vs. 0.52 más o menos 0.02, P menor que 0.05; ME: 0.45 más o menos 0.01 vs. 0.83 más o menos 0.04, P menor que 0.05). Estos datos indicarían una deficiencia de ácidos grasos esenciales. Se observó una elevación en los valores de colesterol total (32.3 más o menos 0.8 vs. 40.6 más o menos 2.5, P menor que 0.05) y una disminución de los valores de fosfolípidos (67.7 más o menos 0.7 vs. 59.4 más o menos 2.6, P menor que 0.05) en las ME de los pacientes con ECV. Estos hallazgos sugieren cambios en los lípidos de las ME en los pacientes con ECV a pesar de presentar diferencias con respecto a edad, tabaquismo y diabetes. El conocimiento del perfil lipídico de las ME podría constituirse en una herramienta útil para monitorear la evolución de la enfermedad.

Apoyo metabólico del corazón isquémico en cirugía cardíaca / Metabolic support of the ischemic heart during cardiac surgery

We examine [IBM1] the basic principles and clinical results of the metabolic intervention with glucose-insulin-potassium (GIK) solutions in the field of cardiovascular surgery. On the basis of many international publications concerning this subject, and the experience obtained in the operating room of the Instituto Nacional de Cardiologia [quot ]Ignacio Chávez[quot ], we conclude that the metabolic support wit GIK is a powerful system that provides very useful energy to protect the myocardium during cardiac and non-cardiac surgery. The most recent publications indicate their effects in reducing low output syndromes, due to interventions on the coronary arteries, as well as producing a significant reduction of circulating fatty acids. These effects are produced also in the field of interventional cardiology, where GIK solutions protect the myocardium against damage due to impaired microcirculation. It is evident that these solutions must be utilized in higher concentrations that the initial ones, equal to those employed in laboratory animals. On the other side, it is worthy to remember that it has been always underlined that this treatment represents only a protection for the myocardium. Therefore, its association with other drugs or treatments favoring a good myocardial performance is not contraindicated--on the contrary, it yields better results. The present review presents pharmacological approaches, such as the use of glutamato, aspartate, piruvato, trimetazidina ranolazine and taurine to optimize cardiac energy metabolism, for the management of ischemic heart disease.

Relación del estrés oxidativo con el perfil de ácidos grasos en membrana de eritrocitos en pacientes con hipertensión arterial esencial / Oxidative profile of fatty acids and plasma levels of F2-isoprostanes in patients with essential hypertension

Objetivo: El objetivo del estudio fue relacionar el perfil de ácidos grasos de membrana de eritrocitos con niveles de F2- isoprostanos plasmáticos de pacientes con hipertensión arterial esencial no tratada y comparar los mismos parámetros con los de controles normotensos.Métodos: Se seleccionaron 42 pacientes hipertensos y 14 normotensos, sexo masculino, 40-60 años, peso comparabley sin patologías que modifiquen el estrés oxidativo. Las determinaciones de presión arterial se registraron continuamente durante 24 hrs. Se obtuvo una muestra de sangre en ayunas y se midieron los niveles plasmáticos de F2-isoprostanos. En membranas aisladas de eritrocitos se midió la composición de ácidos grasos por cromatografía de gases. Resultados: En hipertensos se encontró que los niveles de ácidos grasos de membrana de eritrocitos, expresados como porcentaje, de ácidos grasos moninsaturados, particularmente el ácido miristoleico [(14:1n-9); 15.3 ± 1.6 vs 1.58 ± 0.20)] y los ácidos poliinsaturados: linoleico [(18:2n-6); 2.38 ± 1.33 vs 0.98 ± 0.69)], linolénico [(18:3n-3); 1.63 ± 0.74 vs 0.75 ± 0.49)], araquidónico [(20:4n-6); 17.71 ± 1.55 vs 14.10 ± 0.90)] y docosahexaenoico [(22:6n-3); 15.32 ± 2.85 vs 11.90 ± 2.88)] se encontraron significativamente disminuidos comparados con normotensos (p<0.05). Las concentraciones plasmáticas de F2-isoprostanos fueron significativamente mayores en hipertensos que en normotensos (en pg/mL: 30.2 ± 2.1 vs 24.8 ± 1.4, respectivamente). Conclusiones: Los niveles bajos de ácidos grasos monoinsaturados y poliinsaturados, asociados a un aumento de los ácidos grasos saturados en membrana de eritrocito podrían atribuirse a la vulnerabilidad de los dobles enlaces en la cadena hidrocarbonada del ácido graso. El estrés oxidativo presente podría contribuir a explicar este efecto.

Evaluation of some epidemiological characteristic and biochemical parameters among Egyptian autistic children

One of the settled facts in the etiology of autism is that genetic and environmental factors play a role in its occurrence. However, the recent dramatic increase in autism prevalence world, suggests other factors to be involved in its etiology. Most of the studies reported associations but not possible risk factors in the etiology of autism. The present work aimed at determining some epidemiological characteristics of Egyptian autistic children including the study of some incriminated perinatal factors. As well as biochemical assessment of metabolic disturbances with special stress on fatty acids and trace elements in the autistic children compared to their healthy siblings. Sixty children were included in the study, divided into two groups; a group that consisted of forty children who fulfilled the criteria of pervasive developmental disorders and a group of twenty apparently healthy siblings matched by age, sex, and social status to the autistic children. All the children were subjected to a thorough history taking and clinical examination including anthropometric measurements, Laboratory investigations included the determination of some routine biochemical parameters in blood and urine, serum and blood levels of some trace elements [copper, zinc, lead, and cadmium] using the atomic absorption spectrophotometry, serum total and individual fractions of fatty acids [using gas liquid chromatography] and urinary vanillyl mandelic acid [VMA]. The present work revealed a significant increase in head circumference measurement of autistic children compared to their control group and the gestational age as the only significantly different perinatal factor between th groups. A significant lower serum zinc and higher blood lead and cadmium mean values were observed in autistic children, along with significant rise in the ratios of copper to zinc, cadmium to zinc and lead to zinc. As regards the fatty acids, the omega 3 fatty acids were significantly lower in autistic children than the corresponding siblings, along with a significantly higher omega 6 to 3 ratio in autistic children in addition, the arachidonic acid ecosapentadecanoic acid ratio was significantly higher in autistic children than the corresponding siblings. Serum stearic acid was significantly higher while serum docosanoic acid and its methyl ester were significantly lower in autistic children than their healthy siblings. The urinary VMA and uric acid to creatinine ratios were .significantly higher in autistic children when compared to their healthy siblings. Correlation studies of omega 3 fatty acids with other parameters demonstrated positive correlation with serum zinc level and inverse correlations with blood lead, autistic head circumference, as well as lead/zinc, cadmium/zinc, urine uric acid and urine VMA to creatinine ratios. From the present work, it could be concluded that head circumference is an important determinant of autistic children. The disturbance in metal metabolism noted in this study by the significantly lower serum zinc which is important as a neurotransmitter and the significantly higher blood cadmium and lead levels could denote a dysfunction in metallothionein protective detoxification of cadmium and lead resulting in increased vulnerability these toxins. Another finding is the deficiency of essential fatty acid particularly the omega3 series including Eicosapentaenoic [EPA] and Docosahexaenoic [DHA] as well as the complete absence of linolenic acid could be responsible for the suppression of brain energy metabolism, and alteration of the course of brain development. In lion, neurochemical factors could play a role in autism as demonstrated by the increased urinary VMA in autistic children that denotes frequent stressful conditions to which autistic children are subjected to

Relación entre el diagnóstico morfológico de EHNA (esteatohepatitis no alcohólica) y pruebas de función hepática en un grupo de pacientes con obesidad extrema / Relationship between morphological diagnosis of NASH (Non-Alcoholic SteatoHepatitis) and liver function test in a group of patients with morbid obesity. Cases study

The non-alcoholic steato-hepatitis (NASH) is a common disorder in obese, type 2 diabetics, female and patients with dislipidaemia. Hepatic biochemical test are abnormal. Despite the lack of its own morphological characteristics, NASH can be differentiated from other pathologies, the gold standard for diagnosis is liver biopsy. Material and methods: We designed a retrolective, comparative, observational and cross-sectional study. Thirty-five obese subjects (11 men and 24 women) who underwent to bariatric surgery and liver biopsy were included. Data were taken from clinical files, such as anthropometric and biochemical test. Those who had clinical history of related alcohol ingestión or liver damage related to drugs were excluded. A experimented pathologist classified the biopsies according to Brunt classification. Liver slides were classified according to 1) presence of NASH; 2) Inflammation and 3) Fibrosis. Differences between groups were analysed by ANOVA and Spearman correlation. Results: We found differences between women (w) and men (m) for height (m: 1.71 ± 0.9 vs. w:1.60 ± 0.09m); weight (m: 172.5 ± 39.1 vs. w: 126.9 ± 24.1kg) and BMI (m:58.2 ± 9.8 vs. w:49.8 ± 9) , but not for NASH frequency. Nevertheless subjects with NASH (n = 29, 82.8%) were older than those without NASH (38.3 ± 9.6 vs. 29.5 ± 5.2) and had higher aminotrasferases serum levels (AST: 33.1 ± 19.2 vs. 23.7 ± 6.3 UL/L; ALT: 36.5 ± 19.8 vs. 20.3 ± 7.6UL/L). NASH patíents and those with higher grade of histological inflammation had increment of transaminases and albumin levels. Fibrosis showed correlation only with AST (p = 0.020) and ALT (p = 0.002). Conclusion.The NASH frequency in patients who underwent to bariatric surgery for weight reduction is very high (82.8%) and exists correlation among liver test and histological findings but not with clinical because the clinical diagnosis is complicated.

La esteatohepatitis no alcohólica (EHNA) es una alteración hepática frecuente en obesos, diabéticos tipo 2, mujeres y personas con dislipidemia. Clínicamente se acompaña de alteraciones en las pruebas de función hepática (PFH), y aunque carece de características morfológicas distintivas, puede ser razonablemente diferenciada de otras entidades, el método diagnóstico por excelencia es la biopsia hepática. Material y métodos. Se diseñó un estudio retrolectivo, comparativo, observacional y transversal en el que se incluyeron 35 pacientes obesos (11 hombres y 24 mujeres) sometidos a tratamiento quirárgico para reducción de peso, con biopsia hepática en el periodo transoperatorio. Se obtuvieron, del expediente clínico, datos antropométricos y de laboratorio. Se excluyeron los pacientes con antecedentes de ingestión de alcohol y medicamentos asociados a la presencia de EHNA. Se recabaron muestras de las biopsias hepáticas que fueron analizadas por un patólogo experimentado, empleando la clasificación de Brunt para estratificación de EHNA. Los datos se clasificaron de acuerdo con: 1) Presencia de EHNA, 2) Grado de inflamación, 3) Presencia de fibrosis. Las diferencias entre los grupos fueron analizadas con Krusskal Wallis y correlación de Spearman. Resultados. Se encontró diferencias entre hombres (H) y mujeres (M) en estatura: (H:1.71 ± 0.9. vs. M:1.60 ±0.09 m); peso (H: 172.5 ± 39.1 vs. M:126.9 ± 24.1 kg) e índice de masa corporal (H:58.2 ± 9.8 vs. M: 49.8 ± 9); no hubo diferencias en la frecuencia de EHNA por género. Los sujetos con diagnóstico morfológico de EHNA (n = 29, 82.8%) mostraron una edad promedio mayor que el grupo sin EHNA (38.3 ± 9.6 vs. 29.5 ± 5.2, respectivamente) del mismo modo, la concentración de transaminasas fue mayor para el grupo con EHNA (AST: 33.1 ± 19.2 vs. 23.7 ± 6.3 UL/ L; ALT: 36.5 ± 19.8 vs. 20.3 ± 7.6 UL/L). Los pacientes con EHNA y con mayor grado de inflamación histológica mostraron mayor elevación de transaminasas y albámina. La presencia de fibrosis correlacionó con la elevación de aspartato aminotransferasa (AST p = 0.020) y alanino aminotransferasa (ALT p = 0.002). Conclusión. Este estudio demuestra que la frecuencia de EHNA en pacientes obesos sometidos a cirugía para reducción de peso en la clínica de obesidad del Instituto es alta (82.8%) y que existe una buena correlación entre las pruebas de función hepática y las alteraciones morfológicas; sin embargo, las anteriores no correlacionan con las manifestaciones clínicas por lo que el diagnóstico clínico temprano es difícil.

Long-term treatment of N-3 PUFAS on plasma lipoprotein levels and fatty acid composition of total serum and erythrocyte lipids in hypertriglyceridemic patients.

The low incidence of coronary heart disease in Greenland Eskimos and Japanese fishermen who have high consumption of fish and seafood has called the attention in the role of eicosapentaenoic (EPA = 20:5n-3) and docosahexaenoic (DHA = 22: 6n-3) acids, the major n-3 polyunsaturated fatty acids (PUFAs) in fish oils, in reducing cardiovascular risk. N-3 PUFAs may reduce serum lipids by promoting fatty acid oxidation and decrease VLDL producing from the liver, depress tissue arachidonate synthesis and alter the composition and tissue PUFAs. Plasma lipoprotein and fatty acid composition of total serum and erythrocyte lipids in 9 hypertriglyceridemic patients consisting of 4 males and 5 females aged 39-72 yr who attended the Nutrition Clinic, Ramathibodi Hospital were investigated. The study period consisted of 4 wks of dietary advice only followed by 48 wks of dietary advice with a daily intake of 6 g of fish oil capsules (FOC). Six grams of FOC provided 1080 mg of 2:5n-3 and 720 mg of 22:6n-3. Their plasma triglyceride (TG) levels at wk 0, 12, 24, 36, 48 were 356.7, 230.1, 209.7, 192.9, 22 7.4 mg/dL and M-particle (equivalent to very low density lipoprotein, VLDL) were 484.4, 354.8, 383.1, 349.7, 453.2 mg/dL respectively that decreased significantly, whereas their plasma low density lipoprotein cholesterol (LDL-C) levels at the same periods were 139.4, 164.9, 171.0, 157.1, 158.3 mg/dL that increased significantly. Serum and erythrocyte 20:5n-3 and 22:6n-3 in these subjects were significantly higher than those at wk 0 throughout the study. These findings indicate the bioavailability of 20: 5n-3 and 22:6n-3 in TG lowering effect of FOC. Fatty acids from fish oil have a remarkable effect on the synthesis and clearance of TG-rich lipoproteins, especially VLDL and chylomicrons. Though daily treatment with 6 g of FOC has a striking effect in increasing plasma LDL-C levels.