Dataset on free amino acids contents of Serra da Estrela PDO cheeses determined by UPLC-DAD-MS/MS.

The composition of Serra da Estrela PDO cheeses (total fat, total protein, salt and free amino acids) was assessed using NIR spectrophotometry and UPLC-DAD-MS/MS. In total, 24 cheeses were acquired from 6 certified cheesemakers located in 5 different municipalities within the delimited PDO geographical region. Cheeses were produced from raw ewe milk of two autochthonous Portuguese sheep breeds, between November 2017 and March 2018, and were acquired after 45 days of maturation. The data include the mean (and respective standard deviations) levels of moisture (%), total fat (%), total protein (%) and salt (%), obtained by NIR spectrophotometry. As well the mean (and respective standard deviations) of free amino acids contents (mg/100 g of cheese, in wet basis) evaluated using a UPLC-DAD-MS/MS method are shown. The latter data include information regarding 8 essential free amino acids (histidine, leucine-isoleucine, lysine, methionine, phenylalanine, threonine, tryptophan and valine) and 9 non-essential free amino acids (arginine, asparagine, aspartic acid, cysteine, glutamine, glutamic acid, proline, tyrosine and serine). Leucine and isoleucine, being isomers, were quantified together. Leucine-isoleucine, phenylalanine and serine were the most abundant essential free amino acids and cysteine, proline and asparagine were the most abundant non-essential free amino acids. Free amino acids contents depended on the cheese producer as well as on the production time-period.

Serra da Estrela cheese's free amino acids profiles by UPLC-DAD-MS/MS and their application for cheese origin assessment.

Serra da Estrela cheese is a high-value Portuguese Protected Designation of Origin cheese, produced with raw ewe milk. Thus, information regarding its composition is of utmost relevance for both consumers and certified producers. In this work, the chromatographic profiles of free amino acids in cheeses (45 days of maturation, 6 producers located in 5 municipalities and produced from November 2017 to March 2018) were established by UPLC-DAD-MS/MS. The proposed method allowed detecting 19 free amino acids and cystine with overall limits of detection and quantification lower than 44 µmol/L (1.4 mg/100 g cheese, wet matter) and than 134 µmol/L (4.2 mg/100 g cheese, wet matter), respectively. In all cheeses, 17 free amino acids were quantified including 8 essential amino acids (histidine, leucine-isoleucine, lysine, methionine, phenylalanine, threonine, tryptophan and valine) and 9 non-essential amino acids (arginine, asparagine, aspartic acid, cysteine, glutamic acid, glutamine, proline, serine and tyrosine). The amounts of the free amino acids, essential free amino acids, branched chain free amino acids (leucine, isoleucine and valine) plus the free amino acids ratios (mg/g protein) were further used to identify the producer of Serra da Estrela cheeses. Linear discriminant analysis coupled with the simulated annealing variable selection algorithm was used allowing the correct classification of 96% and 90 ±â€¯8% of the samples, for leave-one-out and repeated K-fold cross-validation procedures, respectively. The satisfactory predictive performance pointed out the possibility of using cheeses' amino acids profiles as origin biomarkers for authenticity control, warranting the correctness identification of the cheese producer/brand, which is quite relevant for ensuring the consumer confidence and satisfaction when purchasing this high-value dairy food.

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

In the last decades, nine inherited errors of the distal part of cholesterol biosynthesis have been recognized. Affected patients present complex malformation syndromes involving different organs and systems with variable degrees of severity. We report on the phenotype evolution of three patients with enzymatic defects at three distinct steps of such pathway: Smith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata type 2 and congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. The patients' natural history, from childhood to adulthood, is thoroughly described in order to contribute for a better knowledge of these diseases. Our ultimate goals are to contribute for a better characterization of the long-term course of these metabolic disorders and for the recognition of such diseases in older patients.

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related dysplasias and at evaluating genotype-phenotype correlation. Phenotypically, eight patients were classified as cDTD, four patients as rMED and two patients had an intermediate phenotype (mild DTD - mDTD, previously 'DTD variant'). The Arg279Trp mutation was present in all patients, either in homozygosity (resulting in rMED) or in compound heterozygosity with the known severe alleles Arg178Ter or Asn425Asp (resulting in DTD) or with the mutation c.727-1G>C (causing mDTD). The 'Finnish mutation', c.-26+2T>C, and the p.Cys653Ser, both frequent mutations in non-Portuguese populations, were not identified in any of the patients of our cohort and are probably very rare in the Portuguese population. A targeted mutation analysis for p.Arg279Trp and p.Arg178Ter in the Portuguese population allows the identification of approximately 90% of the pathogenic alleles.

Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy.

The present report concerns two patients, male and female siblings, manifesting a different degree of severity for the same autosomal recessive limb-girdle muscular dystrophy. The index case (male sib) carried the clinical diagnosis of Becker muscular dystrophy at the time when the sister, with a much milder presentation, first sought counseling and prenatal diagnosis for a pregnancy already in course. Molecular and immunocytochemical tests then available favoured the diagnosis of an autosomal recessive myopathy, but did not enable exclusion of a dystrophinopathy The couple was counseled accordingly, although prenatal diagnosis could not be offered. Both patients were later found to carry one gamma- and two alpha-sarcoglycan gene mutations, one of the latter being new This raised a counseling dilemma: depending on which combination was the disease-causing genotype, there would be a minimal or a significant 25% risk to offspring. We describe the studies carried out and emphasise the importance of differential diagnosis and extensive molecular characterisation in this group of disorders, so as to enable correct genetic counseling and prenatal diagnosis.

[Essential arterial hypertension: psychopathology, compliance, and quality of life]. / Hipertensão arterial essencial: psicopatologia, compliance e qualidade de vida.

OBJECTIVE: To evaluate the influence of psychological and psychopathological factors and quality of life on hypertension, its treatment and patient compliance. DESIGN: Case-control study. SETTING: Primary Health Care Center in Oporto. PATIENTS OR PARTICIPANTS: Forty nine patients (pts) with essential hypertension (HT), 35 female and 14 male, mean ages: 52 +/- 11 yrs and 59 +/- 10 yrs, respectively, and 39 normotensive controls (NT)--18 female and 21 male, mean ages: 37 +/- 15 yrs and 42 +/- 15 yrs, respectively, were recruited from the same General Practice. METHODS: Hypertension was classified according to the Joint National Committee criteria. The following psychometric evaluations were used: the Beck Depression Inventory, the Hopkins Symptom Distress Checklist, the Psychological General Well-Being Schedule and the Eysenck Personality Inventory. RESULTS: 1. The hypertensive pts differed from the normotensive pts as they scored significantly higher in somatization (p = 0.07), aggression/hostility (p = 0.036), index of psychological distress (p = 0.08) and, neuroticism (p = 0.09); 2. the hypertensive pts showed lower scores of quality of life (p = 0.019); 3. the biochemical parameters studied (uric acid, urea, creatinine, glicose, total cholesterol, HDL cholesterol, trigliceride, transaminases and gammaglutamil transferase) did not show statistically significant correlation with the psychological variables and quality of life items studied; 4. the electrocardiographic and echocardiographic alterations, corresponding to the severity of the clinical situation, were not associated with statistically significant differences in depression and quality of life; 5. the angiotensin converting enzyme inhibitor, the calcium antagonist and the beta-blockers showed no statistically significant influence on the psychological scores studied. However, pts receiving diuretics showed higher scores of somatization (p = 0.0008) and obsession/ compulsion (p = 0.02) and, lower scores of quality of life (p = 0.04); 6. a better compliance was associated with better psychological scores, and somatization scored with statistical significance (p = 0.03). CONCLUSIONS: The hypertensive pts differed from the normotensive pts as they scored significantly higher in aggression/hostility and lower in quality of life. No statistically significant differences were found among the psychological variables in the pts with cardiac involvement. A better compliance was associated with better psychological scores. The results of this study lead us to suggest that when treating pts with HT, the most appropriate therapeutic attitude should attempt to avoid both therapeutic withdrawal and lack of medical control.