Biomarkers in Lysosomal Storage Diseases.

A biomarker is generally an analyte that indicates the presence and/or extent of a biological process, which is in itself usually directly linked to the clinical manifestations and outcome of a particular disease. The biomarkers in the field of lysosomal storage diseases (LSDs) have particular relevance where spectacular therapeutic initiatives have been achieved, most notably with the introduction of enzyme replacement therapy (ERT). There are two main types of biomarkers.

[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].

Introduction: Pompe disease is a generalized progressive disease caused by a deficiency of the lysosome enzyme acid alpha-glucosidase (GAA). We present three cases with different clinical symptomatology and treated with enzyme replacement therapy (ERT) with positive evolution.

Case Reports: Case 1: three-month old male, with weakness and rejecting meals; mild hepatomegaly, discrete macroglossia and muscular hypotony; and increased muscular enzymes.

[Cathepsin K as a biomarker of bone involvement in type 1 Gaucher disease].

Background And Objective: Gaucher disease is an inherited disorder caused by deficit of acid β-glucocerebrosidase, responsible for the degradation of glucosylceramide to ceramide and glucose. Although the disorder is primarily hematologic, bone is the second most commonly affected structure. Cathepsin K (CATK) is an enzyme involved in bone remodelling process.

Evaluation of a multiplex ELISA for autoantibody profiling in patients with autoimmune connective tissue diseases.

The performance of immunoassays for the detection of autoantibodies is of critical importance in the diagnosis and assessment of patients with autoimmune connective tissue diseases (ACTD). Our objective was to compare the features of two multiplexed assays-INNO-LIA ANA and Gennova-PictArray ENA ELISA-for measurement of multiple autoantibodies and their utility as a clinical tool in ACTD diagnosis. The antigens included SS-A/Ro (60 and 52), SSB/La, Sm, Sm/RNP, CENP-B, Jo-1, and Scl-70.

Impact of the peginterferon-α 2a and ribavirin plasma levels on viral kinetics and sustained virological response in genotype 1 HCV/HIV-co-infected patients with the unfavourable non-CC IL28B genotypes.

Studies on the association between the peginterferon-α and ribavirin levels and sustained virological response (SVR) have shown yielded conflicting results, but most of them were performed before the influence of IL28B polymorphisms was known. Our aim was to assess the effects of peginterferon-α 2a and ribavirin plasma levels on viral kinetics and SVR in hepatitis C virus genotype 1 HCV-1/HIV-co-infected patients according to IL28B genotype. This was a cohort study of HCV-1/HIV-co-infected patients who were HCV-treatment naïve and for whom the efficacy of peginterferon-α 2a plus ribavirin was evaluated by per-protocol analysis.

Maternal body-mass index and cord blood circulating endothelial colony-forming cells.

Objective: Endothelial colony-forming cells (ECFCs) are a subset of circulating endothelial progenitor cells that are particularly abundant in umbilical cord blood. We sought to determine whether ECFC abundance in cord blood is associated with maternal body-mass index (BMI) in nonpathologic pregnancies.

Study Design: We measured the level of ECFCs in the cord blood of neonates (n = 27) born from non-obese healthy mothers with nonpathologic pregnancies and examined whether ECFC abundance correlated with maternal BMI.

[Tetra-saccharide glucose as a diagnostic biomarker for Pompe disease: a study with 35 patients].

Background And Objectives: Pompe disease is a disorder originating from an acid alpha-glycosidase (AAG) enzyme deficiency. This disease produces an accumulation of lysosomal glycogen in different tissues, whereby the skeletal and heart muscles are especially involved. The established diagnosis is achieved through the identification of the AAG deficiency.

Detection of c. -32T>G (IVS1-13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen.

Background: Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes. The wide clinical variability is resulted from genetic heterogeneity, and many different mutations of the GAA gene have been reported. Some of these mutations are associated with specific phenotypes, such as the c.

Olive oil polyphenols decrease blood pressure and improve endothelial function in young women with mild hypertension.

Background: Olive oil polyphenols have been associated with several cardiovascular health benefits. This study aims to examine the influence of a polyphenol-rich olive oil on blood pressure (BP) and endothelial function in 24 young women with high-normal BP or stage 1 essential hypertension.

Methods: We conducted a double-blind, randomized, crossover dietary-intervention study.

Influence of IL28B polymorphisms on response to a lower-than-standard dose peg-IFN-α 2a for genotype 3 chronic hepatitis C in HIV-coinfected patients.

Background: Data on which to base definitive recommendations on the doses and duration of therapy for genotype 3 HCV/HIV-coinfected patients are scarce. We evaluated the efficacy of a lower peginterferon-α 2a dose and a shorter duration of therapy than the current standard of care in genotype 3 HCV/HIV-coinfected patients.

Methods And Findings: Pilot, open-label, single arm clinical trial which involved 58 Caucasian HCV/HIV-coinfected patients who received weekly 135 µg peginterferon-α 2a plus ribavirin 400 mg twice daily during 20 weeks after attaining undetectable viremia.

Abnormal levels of antioxidant defenses in a large sample of patients with hypertensive disorders of pregnancy.

Increased levels of oxidative stress have been demonstrated in Preeclampsia in previous studies, but this finding has not been established in other hypertensive disorders in pregnancy (HDP). We measured different markers of lipid peroxidation and antioxidant defenses by spectrophotometry or enzymoimmunoanalysis in 339 pregnant women: 85 with gestational hypertension (GH), 88 chronic hypertension (CH), 104 Preeclampsia and 62 healthy pregnant control women (PCW). Lower activity of superoxide dismutase and higher levels of catalase were found in GH, CH and preeclampsia compared with PCW (964.

[Left ventricular mass, diastolic function and collagen metabolism biomarkers in essential hypertension].

Background And Objective: To evaluate the association between circulating biomarkers of collagen metabolism in serum, left ventricular mass index (LVMI) and diastolic dysfunction in patients with resistant hypertension.

Patients And Methods: Fifty-two patients with resistant hypertension and 24 healthy individuals were included. The following biomarkers of collagen metabolism were analyzed by ELISA: carboxy-terminal propeptide of procollagen type I (PICP) and transforming growth factor beta1 (TGFβ1).

Coenzyme Q10 distribution in blood is altered in patients with fibromyalgia.

Objective: Coenzyme Q10 (CoQ(10)) is an essential electron carrier in the mitochondrial respiratory chain and a strong antioxidant. Signs and symptoms associated with muscular alteration and mitochondrial dysfunction, including oxidative stress, have been observed in patients with fibromyalgia (FM). The aim was to study CoQ(10) levels in plasma and mononuclear cells, and oxidative stress in FM patients.

Clinical and metabolic effects of two lipid emulsions on the parenteral nutrition of septic patients.

Objective: We compared the metabolic and clinical effects of two lipid emulsions, long-chain triacylglycerols (LCT) and a mixture of medium- and long-chain triacylglycerols (MCT/LCT), in septic patients.

Methods: Both groups received total parenteral nutrition (TPN) with a solution enriched with branched-chain amino acids (BCAA). Seventy-two septic patients received TPN with MCT/LCT (group 1) or LCT (group 2).

Cerebrospinal fluid tumor necrosis factor-alpha, interleukin-1beta, interleukin-6, and interleukin-8 as diagnostic markers of cerebrospinal fluid infection in neurosurgical patients.

Objective: To evaluate whether cerebrospinal fluid concentrations of tumor necrosis factor (TNF)-alpha, interleukin (IL)-1beta, IL-6, or IL-8 may be used as diagnostic markers for the differential diagnosis of aseptic vs. bacterial meningitis and/or ventriculitis in neurosurgical patients.

Design: Prospective, observational study.

[Changes in the concentrations of catecholamines and cortisol in balanced anesthesia and total intravenous anesthesia].

Objective: To compare hormone response to stress caused by surgery performed under balanced general anesthesia and total intravenous anesthesia.

Patients And Method: Two randomly formed groups of 24 patients each were studied. All patients were scheduled for lumbar laminectomy to correct disc hernias, with one group receiving balanced anesthesia with isoflurane (expiratory fraction between 0.

Study of hypocaloric peripheral parenteral nutrition in postoperative patients (European project).

The objective of this study is to ascertain whether or not the supply of a low-calorie amino acids (AA) parenteral solution is useful in postoperative patients, by assessing a series of parameters that indicate nutritional status. 75 postoperative patients who met at least 2 of the 3 criteria: 1) albumin less than 3 g/dl; 2)prealbumin less than 21 mg/dl; 3) body weight less than 95% of ideal weight, were studied. Patients were divided into 4 groups: control group, 15 patients receiving conventional infusion therapy; group I, 20 patients receiving glucose + AA; group II, 20 patients receiving glycerol + AA; and group III, 20 patients receiving sorbitol-xylitol + AA.

[Hypocaloric peripheral parenteral nutrition in postoperative patients (the Europan Project) (II)].

Hypocaloric peripheral parenteral nutrition (HPPN) appears to be indicated in patients in a situation of moderate malnutrition who are to undergo a short period of fasting following surgery. Our aim was to determine the utility of the contribution of parenteral solutions of amino acids (AA) with limited caloric supply in the post-surgical patient, using different nutritional evaluation parameters. We examined 75 post-surgical patients who met at least two of the three criteria established as malnutrition: 1) albumin < 3 g/dl; 2) pre-albumin < 21 mg/dl; 3) bodyweight of less than 95% of the ideal weight.