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Lemon is one of the most significant crops globally, with annual production exceeding 20.8 million tons in 2021. Spain leads the production in Europe with over 62% of lemon production (1.17 million tons in 2021). This study evaluated the real impact of cultivation conditions (rootstock and culture medium) on the compositional characteristics of 'Verna' lemons (peel and juice) using 1H-MNR metabolomic identification techniques and multivariate analyses. Twenty metabolites were identified in both the peel and juice samples. Arginine, phenylalanine, ethanol, and trigonelline were absent in the peel samples but present in all the juice. On the other hand, the metabolites asparagine, glutamate, formate, and malate were present in the peel samples but absent in the juice. The analysis of the results indicates that the rootstock had a significant impact on the metabolites related to the energy metabolism of the plant, which directly affects the development of fruits and the influence of the culture conditions (rootstock and culture medium) on the plant's adaptive response and modification of metabolic pathways. [ABSTRACT FROM AUTHOR]

Despite numerous reports on the beneficial effects of olive oil in the cardiovascular context, very little is known about the olive tree's wild counterpart (Olea europaea, L. var. sylvestris), commonly known as acebuche (ACE) in Spain. The aim of this study was to analyse the possible beneficial effects of an extra virgin ACE oil on vascular function in a rodent model of arterial hypertension (AH) induced by NG-nitro-l-arginine methyl ester (L-NAME). Four experimental groups of male Wistar rats were studied: (1) normotensive rats (Control group); (2) normotensive rats fed a commercial diet supplemented with 15 % (w/w) ACE oil (Acebuche group); (3) rats made hypertensive following administration of L-NAME (L-NAME group); and (4) rats treated with L-NAME and simultaneously supplemented with 15 % ACE oil (LN + ACE group). All treatments were maintained for 12 weeks. Besides a significant blood pressure (BP)-lowering effect, the ACE oil-enriched diet counteracted the alterations found in aortas from hypertensive rats in terms of morphology and responsiveness to vasoactive mediators. In addition, a decrease in hypertension-related fibrotic and oxidative stress processes was observed in L-NAME-treated rats subjected to ACE oil supplement. Therefore, using a model of AH via nitric oxide depletion, here we demonstrate the beneficial effects of a wild olive oil based upon its vasodilator, antihypertensive, antioxidant, antihypertrophic and antifibrotic properties. We postulate that regular inclusion of ACE oil in the diet can alleviate the vascular remodelling and endothelial dysfunction processes typically found in AH, thus resulting in a significant reduction of BP. [ABSTRACT FROM AUTHOR]

The most frequent location of back pain is at the lumbar level, "low back pain". It is a very frequent pathology, being currently the leading cause of disability for work in Spain. Also, low back pain is an important part of economic burden to the healthcare system. If it is not effectively and quickly treated in the acute phase, the lesion may relapse and even become chronic, thus compromising the efficacy of the treatment. Non-steroidal anti-inflammatory drugs are the treatment of choice for low back pain, among which ibuprofen and its association with arginine stand out. This article aims to review the efficacy and safety of ibuprofen and the differential pharmacokinetic characteristics of the ibuprofen-arginine association. [ABSTRACT FROM AUTHOR]

Nitric oxide (NO) has led a revolution in physiology and pharmacology research during the last two decades. This labile molecule plays an important role in many functions in the body regulating vasodilatation, blood flow. mitochondrial respiration and platelet function. Currently, it is known that NO synthesis occurs via at least two physiological pathways: NO synthase (NOS) dependent and NOS independent. In the former, L-arginine is the main precursor. It is widely recognized that this amino acid is oxidized to NO by the action of the NOS enzymes. Additionally, L-citrulline has been in- dicated to be a secondary NO donor in the NOS-dependent pathway, since it can be converted to L-arginine. Nitrate and nitrite are the main substrates to produce NO via the NOS-independent pathway. These anions can be reduced in vivo to NO and other bioactive nitrogen oxides. Other molecules, such as the dietary supplement glycine propionyl-L-carnitine (GPLC), have also been suggested to increase levels of NO, although the physiological mechanisms remain to be elucidated. The interest in all these molecules has increased in many fields of research. In relation with exercise physiology, it has been suggested that an increase in NO production may enhance oxygen and nutrient delivery to active muscles, thus improving tolerance to physical exercise and recovery mechanisms. Several studies using NO donors have assessed this hypothesis in a healthy, trained population. However, the conclusions from these studies showed several discrepancies. While some reported that dietary supplementation with NO donors induced benefits in exercise performance, others did not find any positive effect. In this regard, training status of the subjects seems to be an important factor linked to the ergogenic effect of NO supplementation. Studies involving untrained or moderately trained healthy subjects showed that NO donors could improve tolerance to aerobic and anaerobic exercise. However, when highly trained subjects were supplemented, no positive effect on performance was indicated. In addition, all this evidence is mainly based on a young male population. Further research in elderly and female subjects is needed to determine whether NO supplements can induce benefit in ex- ercise capacity when the NO metabolism is impaired by age and/or estrogen status. [ABSTRACT FROM AUTHOR]

The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non-Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele-specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively. [ABSTRACT FROM AUTHOR]

Background Familial chylomicronemia syndrome (FCS) is an extremely rare lipoprotein disorder caused by mutations in at least 5 genes of the lipoprotein lipase (LPL) complex. Objective This work shows the molecular analysis of patients diagnosed with FCS, who attended the Spanish Arteriosclerosis Society lipid units and were included in the National Dyslipidemia Registry. Methods Among the 238 patients registered with severe hypertriglyceridemia (fasting triglycerides >1000 mg/dL), 26 were diagnosed with FCS as they had confirmed postheparin plasma LPL activity deficiency and/or homozygosity for loss-of-function mutations in LPL, GPIHBP1, APOC2, LMF1, or Apolipoprotein A5 (APOA5). Results Among the 26 FCS cases, 23 had mutations in the homozygous state: 19 in LPL and 4 in the GPIHBP1 gene. The molecular analysis revealed 3 novel mutations: 2 in LPL , in 2 unrelated patients (c.312delA; p.Asp105Thrfs*66 and c.629A>G; p.His210Arg), and 1 in GPHIBP1 in a third patient (c.502delC; p.Leu168Serfs*83). These 3 patients had confirmed lack of LPL activity. Three additional patients with confirmed LPL activity deficiency were heterozygous carriers of mutations in the genes analyzed. Among these, we found 2 novel mutations in APOA5 (c.50-1G>A and c.326_327insC; p.Tyr110Leufs*158). Conclusion We have identified 5 novel pathogenic mutations: 2 in LPL , 1 in GPIHBP1 , and 2 in the APOA5 gene. The genetic defaults accounting for the LPL activity deficiency of 23 of them have been clearly identified and 3 patients, who harbored mutations in heterozygosity, were diagnosed based on LPL activity deficiency, which raises the question of the involvement of new genes in the manifestation of FCS. Highlights • We studied data from the Spanish Atherosclerosis Society Dyslipidemia Registry. • We diagnosed 26 patients with familial chylomicronemia syndrome. • We identified 5 novel mutations in LPL (2), GPIHBP1 (1), and APOA5 (2). • Twenty-three patients were homozygous for mutations in LPL (19) and GPIHBP1 (4). • Three patients heterozygous for mutations in LPL or APOA5 had LPL activity deficiency. [ABSTRACT FROM AUTHOR]

Concentrations of amino acids and volatile compounds of a given grapevine cultivar might be altered by inter-annual climate variability and management practices such as irrigation. These compounds determine, in part, aroma and sensory characteristics of wines. The current study aimed at assessing the amino acid profile of musts and wines and the volatile composition of wines from Vitis vinifera (L.) cultivar 'Godello' grown in the Ribeiro Designation of Origin (NW Spain) under rain-fed and supplementary irrigation (SI) conditions over three years (2012-2014). Supplementary irrigation increased must titratable acidity. However, must amino acid concentrations were not significantly altered by SI. In contrast, the concentrations of ethyl lactate and geraniol were greater in wines from the SI treatment. Significant correlations between amino acids in musts and volatiles in wines were observed. Our results highlight the low impact of SI on must and wine composition, likely due to the low level of water stress experienced by Godello vines. Understanding the effects of SI on wine properties could aid to adapt management practices in the future., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Purpose: Mutations in the peripherin/retinal degeneration slow (RDS) gene are a known cause of various types of central retinal dystrophies. The purpose of this study was to determine the prevalence of mutations in the peripherin/RDS gene in Spanish patients with different types of autosomal dominant macular dystrophy., Methods: Ophthalmic and electrophysiological examination was performed in patients from 61 unrelated autosomal dominant macular dystrophy (adMD) Spanish families. Screening for mutations in the peripherin/RDS gene by denaturing gradient gel electrophoresis (DGGE) and direct genomic sequencing was performed in index patients and extended to the family when positive., Results: We report four novel mutations in peripherin/RDS and a relatively high frequency (23%) of mutations in this gene in families with adMD. Thirteen different mutations were found in fifteen adMD families. Three novel missense, four nonsense and a cis-acting splicing mutation IVS2+2T>C, were found in a Spanish population while five more missense mutations were also reported in other populations. The Arg142Trp and Arg172Trp mutations, present in several populations, were both detected in two independent Spanish families. All the missense mutations produce an amino acid substitution in the second intradiscal loop of the peripherin, while the nonsense mutations presumably generate a truncated protein., Conclusions: A high frequency (23%) of mutations in the peripherin/RDS gene was found in a cohort of 61 unrelated patients with various types of autosomal dominant central retinal dystrophies as compared with a low prevalence (1.3%) of mutations in this gene causing retinitis pigmentosa in a Spanish population. Different macular dystrophy phenotypes according to the mutations in peripherin/RDS are shown. However, a limited phenotype variation was observed for these mutations within the family.

Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified by automated sequencing in one type 2A vWD Spanish patient. To detect this new candidate mutation a modified primer that creates a Ddel restriction site when the mutation is present was designed. This approach allowed detection of the mutation in the other three patients from the same family. On the other hand, the fact that this new mutation was not found in the 110 normal alleles screened further supports their causal relationship with the disease.

Factor V Leiden is already well established to be involved in venous thrombosis but not in coronary heart disease. Results are conflicting and even antagonistic in cerebrovascular disease (CVD). In this study we examine the prevalence of factor V Leiden in 125 consecutive patients with ischemic CVD 12 additional selected CVD patients with the first CVD episode before the age of 45 years, and 102 controls from the same area. Identification of the mutation was achieved using two molecular methods. The prevalence of factor V Leiden in patients with CVD was similar to that in the normal population. The presence of the mutation was independent of the age and severity of the ischemic episode. Finally, no significant clinical differences were found between patients with and those without factor V Leiden. Therefore, factor V Leiden cannot be considered as a genetic risk factor for CVD.

A large family affected with autosomal dominant retinitis pigmentosa (ADRP) with a sectorial phenotype showed a previously described (G to A) mutation in the rhodopsin gene resulting in the substitution of a glycine residue by an arginine in codon 106 of rhodopsin. This mutation shows some unusual characteristics, such as initial pathology of the inferior retina, superior visual field with normal disc and retinal vessels, and ERG findings that show a modest reduction in both cone and rod amplitudes with normal implicit times. The Gly 106 Arg mutation has been previously reported in American and British patients. Its presence in a Spanish ADRP family confirms that it and its homogeneous associated phenotype are geographically widespread.

HLA-DQ alpha and beta alleles were chosen as the most sensitive Type 1 (insulin-dependent) diabetes mellitus susceptibility markers for evaluating the disease associations and Type 1 diabetes risk in a population-based registry from Madrid. The absence of aspartic acid in position 57 of the DQ beta chain (non-Asp 57), and the presence of arginine in position 52 of the DQ alpha chain (Arg 52) were found to be reliable markers of Type 1 diabetes susceptibility among the Spanish population, with significantly higher frequencies among the cases of Type 1 diabetes compared to randomly selected non-diabetic control subjects from the general Madrid population. While non-Asp 57 homozygosity conferred an absolute risk of 32.3 per 100,000 per year and Arg 52 of 31.5 per 100,000 per year, the risk for double homozygotes for both non-Asp 57 and Arg 52 was estimated as 101.7 per 100,000 per year. Individuals homozygous for only one of these alleles, and heterozygous at the other locus, had a markedly lower Type 1 diabetes risk (12.8 per 100,000 per year), approximating the general population incidence for Madrid. Thus, susceptibility to Type 1 diabetes in Spanish patients is associated, quantitatively, with non-Asp 57 DQ beta and Arg 52 DQ alpha alleles.