Publications by authors named "Arrieta F"

Article Synopsis
  • * After treatment with PCSK9 inhibitors, plasma from FH patients showed altered cholesterol distribution, with less cholesterol in LDL and more in HDL.
  • * PCSK9 inhibitors enhanced the movement of cholesterol to feces in specific mouse models and support the reverse cholesterol transport pathway in patients with heterozygous FH.
View Article and Find Full Text PDF
Article Synopsis
  • Cardiovascular disease is a major concern for individuals with diabetes, even with normal LDL cholesterol levels, due to dyslipidaemia that includes high triglycerides and low HDL cholesterol.
  • Understanding the complex relationship between lipoprotein composition and cardiovascular risk is crucial for recognizing hidden threats in diabetes patients.
  • The review emphasizes three levels of lipoprotein analysis—routine tests, advanced NMR profiling, and the study of minor lipoprotein components—to improve research on cardiovascular disease in diabetes populations.
View Article and Find Full Text PDF
Article Synopsis
  • The study focuses on the characteristics and long-term outcomes of patients with homozygous familial hypercholesterolemia (HoFH), a severe genetic condition affecting cholesterol levels and cardiovascular health.
  • Data was collected from the SAFEHEART study between 2004 and 2022, analyzing 39 HoFH patients with a median follow-up of 11 years, revealing significant genetic and clinical variations among them.
  • Results showed a high initial level of LDL cholesterol (median 555 mg/dL), but treatment greatly improved this (median 122 mg/dL), which also led to a reduction in atherosclerotic cardiovascular disease (ASCVD) events over time.
View Article and Find Full Text PDF

Supplementation is crucial for improving performance and health in phenylketonuria (PKU) patients, who face dietary challenges. Proteins are vital for athletes, supporting muscle growth, minimizing catabolism, and aiding muscle repair and glycogen replenishment post-exercise. However, PKU individuals must limit phenylalanine (Phe) intake, requiring supplementation with Phe-free amino acids or glycomacropeptides.

View Article and Find Full Text PDF
Article Synopsis
  • Diabetes mellitus (DM), particularly type 2 diabetes, is a major global health issue, affecting 1 in 11 adults, mainly due to rising obesity rates since 2008.
  • Cardiovascular (CV) risk is a leading cause of health complications and deaths among these individuals, putting a strain on healthcare systems.
  • Leptin, a hormone related to fat cells, is crucial for regulating metabolism and inflammation; understanding its resistance in obese and diabetic patients could enhance CV disease management and prevention strategies.
View Article and Find Full Text PDF

Aims: Dipeptidyl peptidase 4 (DPP4) has been proposed as a coreceptor for SARS-CoV-2 cellular entry. Considering that type 2 diabetes mellitus (T2DM) has been identified as the most important risk factor for SARS-CoV-2, and that gliptins (DPP4 inhibitors) are a prescribed diabetic treatment, this study aims to unravel the impact of DPP4 in the intersection of T2DM/COVID-19.

Materials And Methods: We analyzed 189 serum human samples, divided into six clinical groups (controls, T2DM, T2DM + gliptins, COVID-19, COVID-19 + T2DM, and COVID-19 + T2DM + gliptins), measuring DPP4 protein concentration and activity by Western blot, ELISA, and commercial activity kits.

View Article and Find Full Text PDF
Article Synopsis
  • Phenylketonuria (PKU) is a hereditary disorder that affects protein metabolism, first identified in newborn screenings, leading to earlier diagnosis and treatment for affected individuals.
  • A case study focused on a 28-year-old woman with PKU highlights the complexities of her pregnancy, involving both her and her partner's PKU diagnoses, which have implications for the fetus.
  • The findings stress the importance of careful pregnancy management and monitoring in women with PKU, suggesting the potential benefit of genetic studies in understanding fertility related to the condition.
View Article and Find Full Text PDF

Background: Antithyroid drug-induced agranulocytosis (AIA) (neutrophils <500/µL) is a rare but serious complication in the treatment of hyperthyroidism.

Methodology: Adult patients with AIA who were followed up at 12 hospitals in Spain were retrospectively studied. A total of 29 patients were studied.

View Article and Find Full Text PDF

Mutations in are the second most frequent cause of familial hypercholesterolemia (FH). is highly polymorphic, and many variants are benign or of uncertain significance, so functional analysis is necessary to ascertain their pathogenicity. Our aim was to identify and characterize variants in patients with hypercholesterolemia.

View Article and Find Full Text PDF
Article Synopsis
  • * Out of 696 patients studied, a high persistence rate of 96.1% with PCSK9i treatment was observed over a median follow-up of 3.7 years, leading to significant reductions in LDL-C levels.
  • * The treatment not only improved cholesterol management, with 77% reaching 2016 LDL-C goals, but also maintained a good quality of life for the patients throughout the study period.
View Article and Find Full Text PDF

The Working Groups of Cardiovascular Pharmacotherapy of the Sociedad Española de Cardiología and Cardiovascular Disease of the Sociedad Española de Diabetes have prepared a consensus document on the treatment of hypertriglyceridaemia in patients with high/very-high-cardiovascular risk with icosapent ethyl, a highly purified and stable eicosapentaenoic acid ethyl ester. This document is necessary since there are differences among the three main omega-3 fatty acids and there is large-scale clinical evidence with icosapent ethyl that demonstrates that in addition to its efficacy in lowering triglyceridaemia, it reduces the risk of cardiovascular events in both patients with atherosclerotic cardiovascular disease and in those with type 2 diabetes, with a good safety profile. The number needed to treat to avoid a major cardiovascular event is analysed, comparing it with other pivotal studies of pharmacological intervention in cardiovascular prevention, and an estimate of the Spanish population likely to be treated with ethyl icosapent is carried out.

View Article and Find Full Text PDF
Article Synopsis
  • Propionic acidaemia (PA) is a metabolic disorder caused by a lack of the enzyme propionyl-CoA carboxylase, leading to acute decompensation and potential long-term complications from mitochondrial dysfunction.
  • A study involving seven PA patients aged 2.5 to 20 years examined the effects of Coenzyme Q10 (CoQ10) supplementation in the form of ubiquinol, showing that it corrected initially low plasma CoQ10 levels and was well tolerated.
  • Supplementation resulted in significant increases in urinary citrate and the citrate/methylcitrate ratio, indicating potential improvements in mitochondrial function and anaplerosis, warranting further investigation for preventing chronic complications in PA.
View Article and Find Full Text PDF
Article Synopsis
  • * A case study highlights a patient with severe metabolic acidosis, psychomotor delay, and a specific genetic mutation in the MCT1 gene (SLC16A1), suggesting mitochondrial dysfunction.
  • * The condition not only causes ketoacidosis episodes but also includes lactic acidosis and neurologic delays, as seen through distinctive brain imaging findings like the absence of the corpus callosum.
View Article and Find Full Text PDF

Aim: Glioblastoma (GB) is an aggressive tumor type and the detection of circulating endothelial cells (CECs) in peripheral blood has been related to angiogenesis.

Materials & Methods: A prospective single-center pilot study of CEC detection at diagnosis in 22 patients with GB was performed, using the US FDA-approved CellSearch system.

Results: A CEC cutoff value was estimated using a receiver operating curve (ROC) and patients were classified into two groups: <40 CEC/4 ml and >40 CEC/4 ml blood.

View Article and Find Full Text PDF
Article Synopsis
  • Patient registries for rare diseases collect data to support postauthorization safety studies (PASS) for orphan drugs, such as betaine anhydrous (Cystadane).
  • The study involved 130 individuals with various vitamin B deficiencies and was conducted from 2013-2016 as a noninterventional, international partnership.
  • Despite many participants exceeding the recommended betaine dose, no new risks were found, and treatment effectively lowered plasma homocysteine levels, leading to revised dosage recommendations for patients over 10 years old.
View Article and Find Full Text PDF
Article Synopsis
  • - Propionic acidemia is a metabolic disorder caused by a deficiency in the enzyme propionyl-CoA carboxylase, leading to disturbances in metabolic pathways such as the urea cycle and issues with ammonia detoxification.
  • - An observational study conducted at Hospital Ramón y Cajal analyzed the amino acid profiles of 10 patients over two years, comparing data from stable states to episodes of metabolic crises involving ketosis and hyperammonemia.
  • - Results showed significant reductions in plasma glutamine and alanine during crises, indicating impaired anaplerosis and suggesting broader impacts on metabolic pathways related to ammonia detoxification and urea cycle amino acid synthesis.
View Article and Find Full Text PDF

Cardiovascular disease (CVD) is the most common cause of morbidity and mortality in developed countries. The prevalence of CVD is much higher in patients with type 2 diabetes mellitus (T2DM), who may benefit from lifestyle changes, which include adapted diets. In this review, we provide the role of different groups of nutrients in patients with T2DM and CVD, as well as dietary approaches that have been associated with better and worse outcomes in those patients.

View Article and Find Full Text PDF

Objectives: Zinc and copper are important to protect cells from oxidative stress and to enhance immunity. An association between low zinc levels and the severity of acute respiratory distress syndrome has been shown for people with COVID-19. We aimed to study serum zinc and copper concentrations in people with severe COVID-19 and zinc supplementation in parenteral nutrition (PN).

View Article and Find Full Text PDF
Article Synopsis
  • The study investigated the link between stress hyperglycemia in critically ill COVID-19 patients and various health outcomes, comparing them with non-COVID-19 patients.
  • It found that COVID-19 patients had longer ICU stays, needed artificial nutrition for extended periods, and more frequently required insulin therapy to manage high blood sugar levels.
  • Additionally, low levels of circulating osteocalcin in these patients were identified as a strong indicator of stress hyperglycemia, correlating negatively with blood sugar levels during their ICU stay.
View Article and Find Full Text PDF

This document is an update to the clinical practice recommendations for the management of cardiovascular risk factors (CVRF) in diabetes mellitus. The consensus has been developed by a multidisciplinary team made up of members of the Cardiovascular Risk Group of the Spanish Diabetes Society (SED). The work is a necessary update as, since the last review three years ago, there have been many clinical trials that have studied the cardiovascular outcomes of numerous drugs in the diabetic population.

View Article and Find Full Text PDF

Background: PCSK9 inhibitors are a treatment option for patients with familial hypercholesterolemia not on low-density lipoprotein cholesterol goals despite the use of maximally tolerated high intensity-statins dose.

Objective: To evaluate the efficacy of alirocumab and evolocumab in LDL-C reduction and targets attainment in patients with heterozygous familial hypercholesterolemia in clinical practice setting.

Methods: SAFEHEART is an open, long-term prospective study of a cohort of subjects with molecular diagnosis of familial hypercholesterolemia.

View Article and Find Full Text PDF

Background: Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained.

View Article and Find Full Text PDF

Background: Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on age and metabolic control.

View Article and Find Full Text PDF