Search results for "Metabolic disorder"

Topiramate and Metabolic Acidosis in Infants and Toddlers

2002

Summary:  Purpose: Topiramate (TPM) inhibits carbonic anhydrase, with metabolic acidosis as a possible side effect, although this has been reported in only two adult cases. We investigated the acid–base metabolism in infants and toddlers treated with TPM. Methods: Nine infants and toddlers aged 5 months to 2.3 years (median, 6 months) were treated with TPM at maximal doses of 8.2–26 mg/kg/day (median, 11 mg/kg/day). The maximal TPM dose was achieved after 8–35 days (median, 17 days). TPM was given in addition to other antiepileptic drugs (AEDs) in five cases and as a sole AED in four patients with refractory epilepsy resistant to multiple AEDs. The diagnoses were infantile spasms (n = 5), e…

Body composition and molecular reflections of obesity-related cardio-metabolic disorders : a cross-sectional and longitudinal study in women

2016

Aceruloplasminemia: a case report

2008

Hereditary aceruloplasminemia is a rare autosomal recessive disease, firstly identified by Miyajima et al. in Japan in 1987 [1]. The disease is caused by the absence of an a2glycoprotein, the ceruloplasmin (Cp), a copper-containing ferroxidase, mainly synthesized in hepatocytes and widely expressed, including the central nervous system, which catalyses the oxidation of ferrous to ferric iron, a change required for release of iron to plasma transferrin [2]. It is hypothesized that in reticuloendothelial (RE) cells and hepatocytes Cp cooperates to export iron with the iron exporter protein ferroportin 1 (FPN1) [3]. As a consequence, Cp deficiency results in iron deposition in the liver, pancr…

Proanthocyanidins and Where to Find Them: A Meta-Analytic Approach to Investigate Their Chemistry, Biosynthesis, Distribution, and Effect on Human He…

2021

Proanthocyanidins (PACs) are a class of polyphenolic compounds that are attracting considerable interest in the nutraceutical field due to their potential health benefits. However, knowledge about the chemistry, biosynthesis, and distribution of PACs is limited. This review summarizes the main chemical characteristics and biosynthetic pathways and the main analytical methods aimed at their identification and quantification in raw plant matrices. Furthermore, meta-analytic approaches were used to identify the main plant sources in which PACs were contained and to investigate their potential effect on human health. In particular, a cluster analysis identified PACs in 35 different plant famili…

Chemokine axes and inflammatory status in Metabolic Syndrome. Effect of PCSK9 inhibitors in the systemic inflammation associated to Familial Hypercho…

2019

Metabolic syndrome (MS) is a metabolic disorder characterized by a cluster of cardiovascular risk factors and its prevalence remains increasing in Western world. It is associated to low-grade systemic inflammation, a key driver of premature atherosclerosis and the major cause of cardiovascular disease (CVD). Given that CXCL16/CXCR6, CX3CL1/CX3CR1 and CCL2/CCR2 axes have been implicated in the development of CVD, we investigated the role of these axes in leukocyte adhesion to the dysfunctional arterial endothelium in a MS model. We also performed a comprehensive analysis of different cellular and soluble immune players in patients with MS. When compared with the controls, MS patients present…

Brief interventions in counselling for nutrition and the prevalence of metabolic syndrome in primary care adult patients

2018

This research i) examined the influence of a brief nutrition-based intervention among primary care patients in changing nutrition and clinical values related to metabolic syndrome (study 1), and ii) assessed nutrition and the prevalence of metabolic syndrome and its clinical determinants among primary care patients in different sociodemographic groups (study 2). In study 1, a systematic literature review was conducted on eight databases during Sept.-Oct. 2016 with a final update in Nov. 2017. In study 2, data (n=557 for RO II-III, n=251 for RO IV-V) collected in primary care practices in Central Finland in 2006-2008 for the EVI study were analysed using Chi-Square test, GLM and Logistic Reg…

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012

Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…

Anti-gout drugs as potential therapy for atrial fibrillation.

2014

Atrial fibrillation (AF) is an important cardiovascular disease in theelderly [1]. Noticeably, it has been increasingly demonstrated thatserum uric acid (UA) is associated with AF [2–9]. In a recent meta-analysis performed by Tamariz and coworkers, the authors concludedthat high levels of UA and AF are clearly associated [10]. Interestingly,serum UA has been linked to AF in obstructive sleep apnea patients[11], whereas it has been also associated with thromboembolic risk inpatients with nonvalvular AF [12].The treatment of gout, a metabolic disorder caused by chronic hyper-uricemia, is based on administration of colchicine, xanthine oxidase (XO)competitive inhibitors such as allopurinol, and…

A Decision Support Tool for Appropriate Glucose-Lowering Therapy in Patients with Type 2 Diabetes

2015

Contains fulltext : 152084.pdf (Publisher’s version ) (Open Access) BACKGROUND: Optimal glucose-lowering therapy in type 2 diabetes mellitus requires a patient-specific approach. Although a good framework, current guidelines are insufficiently detailed to address the different phenotypes and individual needs of patients seen in daily practice. We developed a patient-specific decision support tool based on a systematic analysis of expert opinion. MATERIALS AND METHODS: Based on the American Diabetes Association (ADA)/European Association for the Study of Diabetes (EASD) 2012 position statement, a panel of 12 European experts rated the appropriateness (RAND/UCLA Appropriateness Method) of tre…

Prediction of dilutional acidosis based on the revised classical dilution concept for bicarbonate

2004

Due to the controversy surrounding the term dilutional acidosis, the classical dilution concept for bicarbonate has been rigorously revised for the prediction of pH, actual bicarbonate concentration, and base excess. In the algorithms derived for buffer solutions, blood, and whole body (1-, 2-, and 3-fluid compartment), only bicarbonate is considered. On dilution at constant Pco2, the final concentration of bicarbonate is the sum in terms of pH, due to the following processes: dilution, formation from chemical reaction with the nonbicarbonate buffers phosphate, hemoglobin, and plasma proteins, and transfer from erythrocytes and interstitial fluid to plasma. At constant Pco2, the level of c…