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2.
Sci Total Environ ; 859(Pt 2): 160462, 2023 Feb 10.
Article in English | MEDLINE | ID: mdl-36435246

ABSTRACT

The use of reclaimed water for crop irrigation has been proposed as a suitable alternative for farmers in the coastal areas of Mediterranean countries, which suffer from greater water scarcity. In this work we study the impact on the water-soil-plant continuum of using reclaimed water for commercial crops irrigated over a long period, as well as the human risks associated with consuming the vegetables produced. Forty-four CECs were identified in the reclaimed water used for crop irrigation. Of these, twenty-four CECs were identified in the irrigated soil samples analysed. Tramadol, ofloxacin, tonalide, gemfibrozil, atenolol, caffeine, and cetirizine were the pharmaceuticals detected at the highest levels in the water samples (between 11 and 44 µg/L). The CECs with the highest average soil concentrations were tramadol (14.6 µg/kg), followed by cetirizine (13.2 µg/kg) and clarithromycin (12.7 µg/kg). In the irrigated vegetable samples analysed over the study period, carbamazepine, lidocaine, and caffeine were only detected at levels from 0.1 to 1.7 µg/kg. The CEC accumulation rate detected in the edible parts of the vegetables permanently irrigated with reclaimed water was very low (~1 %), whereas it was 33 % in the soils. The results revealed that consuming fruits harvested from plants irrigated for a long period with reclaimed water does not represent a risk to human health, opening the door to a circular economy of water. Nevertheless, for crop irrigation, future studies need to be conducted over longer periods and in other matrices to provide more scientific data on the safety of using reclaimed water.


Subject(s)
Agricultural Irrigation , Soil Pollutants , Humans , Water/analysis , Wastewater , Crops, Agricultural , Soil , Vegetables , Soil Pollutants/analysis
3.
Sci Rep ; 12(1): 19209, 2022 11 10.
Article in English | MEDLINE | ID: mdl-36357507

ABSTRACT

Nowadays, exome sequencing is a robust and cost-efficient genetic diagnostic tool already implemented in many clinical laboratories. Despite it has undoubtedly improved our diagnostic capacity and has allowed the discovery of many new Mendelian-disease genes, it only provides a molecular diagnosis in up to 25-30% of cases. Here, we comprehensively evaluate the results of a large sample set of 4974 clinical exomes performed in our laboratory over a period of 5 years, showing a global diagnostic rate of 24.62% (1391/4974). For the evaluation we establish different groups of diseases and demonstrate how the diagnostic rate is not only dependent on the analyzed group of diseases (43.12% in ophthalmological cases vs 16.61% in neurological cases) but on the specific disorder (47.49% in retinal dystrophies vs 24.02% in optic atrophy; 18.88% in neuropathies/paraparesias vs 11.43% in dementias). We also detail the most frequent mutated genes within each group of disorders and discuss, on our experience, further investigations and directions needed for the benefit of patients.


Subject(s)
Optic Atrophy , Retinal Dystrophies , Humans , Exome/genetics , Exome Sequencing , Retinal Dystrophies/genetics , Optic Atrophy/genetics
4.
Sci Rep ; 11(1): 5697, 2021 03 11.
Article in English | MEDLINE | ID: mdl-33707547

ABSTRACT

Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We comprehensively assessed this need in 1109 variants from 825 clinical exomes, the largest sample set to date assessed using Illumina chemistry reported. With a concordance of 100%, we conclude that Sanger sequencing can be very useful as an internal quality control, but not so much as a verification method for high-quality single-nucleotide and small insertion/deletions variants. Laboratories might validate and establish their own thresholds before discontinuing Sanger confirmation studies. We also expand and validate 23 copy number variations detected by exome sequencing in 20 samples, observing a concordance of 95.65% (22/23).


Subject(s)
Exome/genetics , High-Throughput Nucleotide Sequencing , Mutation/genetics , DNA Copy Number Variations/genetics , Humans , Reproducibility of Results
11.
Allergol. immunopatol ; 46(6): 517-532, nov.-dic. 2018. tab, graf
Article in English | IBECS | ID: ibc-177890

ABSTRACT

BACKGROUND: The present study explores the professional opinion of a wide range of experts from the Iberian Peninsula (Spain and Portugal) and their degree of consensus about CMPA's prevention, diagnosis, treatment and progression. Material and methodsA 57-item survey divided in four blocks: Prevention (14 items), Diagnosis (10 items), Treatment (19 items) and Progression (14 items) was completed by 160 panellists, experts in CPMA management (116 Spain, 44 Portugal). Each one answered the questionnaire, formulated in Portuguese and Spanish, by individually accessing an online platform in two consecutive rounds. Five possible answers were possible: "completely agree", "agree", "neither agree nor disagree", "disagree" and "completely disagree". A modified Delphi method was used. RESULTS: Consensus (more than 66% agree) was reached in 39 items (68.4%) and Discrepancy (less than 50% agree) in nine items (15.7%). Block separated analysis offers valuable differences regarding consensus. The Prevention block only reached 50%; the Diagnosis block 90%; the Treatment block 73.68%, showing a high degree of agreement on dietary treatment (15/16 items), and discrepancy or less agreement on immunotherapy treatments. The Progression block reached 71.4% consensus with discrepancy with regard to the time to perform oral food challenge and negatives prognosis consequences of accidental milk ingestion. CONCLUSIONS: This study displays the current opinions of a wide group of experts on CMPA from the Iberian Peninsula and evidence discussion lines in CMPA management. The questions on which there were situations of discrepancy, provide us with very useful information for promoting new, rigorous research enabling us to draw conclusions on these controversial aspects


No disponible


Subject(s)
Humans , Animals , Cattle , Allergens/therapeutic use , Anaphylaxis/therapy , Desensitization, Immunologic/methods , Milk Hypersensitivity/therapy , Milk Proteins/therapeutic use , Allergens/immunology , Anaphylaxis/diagnosis , Anaphylaxis/immunology , Diet Therapy , Expert Testimony , Infant Formula , Milk Hypersensitivity/diagnosis , Milk Hypersensitivity/immunology , Milk Proteins/immunology , Surveys and Questionnaires
12.
Allergol. immunopatol ; 46(4): 378-384, jul.-ago. 2018. tab, graf
Article in English | IBECS | ID: ibc-177869

ABSTRACT

BACKGROUND: The long-term efficacy of corticosteroids to prevent atopic dermatitis (AD) relapses has partially been addressed in children. This study compared an intermittent dosing regimen of fluticasone propionate (FP) cream 0.05% with its vehicle base in reducing the risk of relapse in children with stabilized AD. METHODS: A randomized controlled, multicentric, double-blind trial was conducted. Children (2-10 years) with mild/moderate AD (exclusion criteria: >30% affected body surface area and/or head) were enrolled into an Open-label Stabilization Phase (OSP) of up to 2 weeks on twice daily FP. Those who achieved treatment success entered the Double-blind Maintenance Phase (DMP). They were randomly allocated to receive FP or vehicle twice-weekly on consecutive days for 16 weeks. The primary study endpoint was relapse rate; time to relapse and severity of disease were also studied. Kaplan-Meier estimates were calculated. RESULTS: Fifty-four patients (29 girls) entered the OSP (23 mild AD) and 49 (26 girls) continued into the DMP. Mean age was 5.5 (SD: 2.8) and 5.1 (SD: 2.3) yrs for FP and vehicle groups, respectively. Four patients withdrew from the DMP (two in every group). Patients treated with FP twice weekly had a 2.7 fold lower risk of experiencing a relapse than patients treated with vehicle (relative risk 2.72, SD: 1.28; p = 0.034). FP was also superior to vehicle for delaying time to relapse. Both treatment therapies were well tolerated. CONCLUSION: This long-term study shows that twice weekly FP provides an effective maintenance treatment to control the risk of relapse in children with AD


No disponible


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Anti-Inflammatory Agents/therapeutic use , Dermatitis, Atopic/drug therapy , Fluticasone/therapeutic use , Secondary Prevention/methods , Double-Blind Method
13.
Allergol Immunopathol (Madr) ; 46(6): 517-532, 2018.
Article in English | MEDLINE | ID: mdl-29477244

ABSTRACT

BACKGROUND: The present study explores the professional opinion of a wide range of experts from the Iberian Peninsula (Spain and Portugal) and their degree of consensus about CMPA's prevention, diagnosis, treatment and progression. MATERIAL AND METHODS: A 57-item survey divided in four blocks: Prevention (14 items), Diagnosis (10 items), Treatment (19 items) and Progression (14 items) was completed by 160 panellists, experts in CPMA management (116 Spain, 44 Portugal). Each one answered the questionnaire, formulated in Portuguese and Spanish, by individually accessing an online platform in two consecutive rounds. Five possible answers were possible: "completely agree", "agree", "neither agree nor disagree", "disagree" and "completely disagree". A modified Delphi method was used. RESULTS: Consensus (more than 66% agree) was reached in 39 items (68.4%) and Discrepancy (less than 50% agree) in nine items (15.7%). Block separated analysis offers valuable differences regarding consensus. The Prevention block only reached 50%; the Diagnosis block 90%; the Treatment block 73.68%, showing a high degree of agreement on dietary treatment (15/16 items), and discrepancy or less agreement on immunotherapy treatments. The Progression block reached 71.4% consensus with discrepancy with regard to the time to perform oral food challenge and negatives prognosis consequences of accidental milk ingestion. CONCLUSIONS: This study displays the current opinions of a wide group of experts on CMPA from the Iberian Peninsula and evidence discussion lines in CMPA management. The questions on which there were situations of discrepancy, provide us with very useful information for promoting new, rigorous research enabling us to draw conclusions on these controversial aspects.


Subject(s)
Allergens/therapeutic use , Anaphylaxis/therapy , Desensitization, Immunologic/methods , Milk Hypersensitivity/therapy , Milk Proteins/therapeutic use , Allergens/immunology , Anaphylaxis/diagnosis , Anaphylaxis/immunology , Animals , Cattle , Child, Preschool , Diet Therapy , Expert Testimony , Humans , Infant , Infant Formula , Infant, Newborn , Milk Hypersensitivity/diagnosis , Milk Hypersensitivity/immunology , Milk Proteins/immunology , Portugal , Spain , Surveys and Questionnaires
14.
Allergol Immunopathol (Madr) ; 46(4): 378-384, 2018.
Article in English | MEDLINE | ID: mdl-29373242

ABSTRACT

BACKGROUND: The long-term efficacy of corticosteroids to prevent atopic dermatitis (AD) relapses has partially been addressed in children. This study compared an intermittent dosing regimen of fluticasone propionate (FP) cream 0.05% with its vehicle base in reducing the risk of relapse in children with stabilized AD. METHODS: A randomized controlled, multicentric, double-blind trial was conducted. Children (2-10 years) with mild/moderate AD (exclusion criteria: >30% affected body surface area and/or head) were enrolled into an Open-label Stabilization Phase (OSP) of up to 2 weeks on twice daily FP. Those who achieved treatment success entered the Double-blind Maintenance Phase (DMP). They were randomly allocated to receive FP or vehicle twice-weekly on consecutive days for 16 weeks. The primary study endpoint was relapse rate; time to relapse and severity of disease were also studied. Kaplan-Meier estimates were calculated. RESULTS: Fifty-four patients (29 girls) entered the OSP (23 mild AD) and 49 (26 girls) continued into the DMP. Mean age was 5.5 (SD: 2.8) and 5.1 (SD: 2.3) yrs for FP and vehicle groups, respectively. Four patients withdrew from the DMP (two in every group). Patients treated with FP twice weekly had a 2.7 fold lower risk of experiencing a relapse than patients treated with vehicle (relative risk 2.72, SD: 1.28; p=0.034). FP was also superior to vehicle for delaying time to relapse. Both treatment therapies were well tolerated. CONCLUSION: This long-term study shows that twice weekly FP provides an effective maintenance treatment to control the risk of relapse in children with AD.


Subject(s)
Anti-Inflammatory Agents/therapeutic use , Dermatitis, Atopic/drug therapy , Fluticasone/therapeutic use , Secondary Prevention/methods , Child , Child, Preschool , Double-Blind Method , Female , Humans , Male
16.
Theor Appl Genet ; 129(4): 767-785, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26825382

ABSTRACT

KEY MESSAGE: SNPs in candidate genes Pain - 1, InvCD141 (invertases), SSIV (starch synthase), StCDF1 (transcription factor), LapN (leucine aminopeptidase), and cytoplasm type are associated with potato tuber yield, starch content and/or starch yield. Tuber yield (TY), starch content (TSC), and starch yield (TSY) are complex characters of high importance for the potato crop in general and for industrial starch production in particular. DNA markers associated with superior alleles of genes that control the natural variation of TY, TSC, and TSY could increase precision and speed of breeding new cultivars optimized for potato starch production. Diagnostic DNA markers are identified by association mapping in populations of tetraploid potato varieties and advanced breeding clones. A novel association mapping population of 282 genotypes including varieties, breeding clones and Andean landraces was assembled and field evaluated in Northern Spain for TY, TSC, TSY, tuber number (TN) and tuber weight (TW). The landraces had lower mean values of TY, TW, TN, and TSY. The population was genotyped for 183 microsatellite alleles, 221 single nucleotide polymorphisms (SNPs) in fourteen candidate genes and eight known diagnostic markers for TSC and TSY. Association test statistics including kinship and population structure reproduced five known marker-trait associations of candidate genes and discovered new ones, particularly for tuber yield and starch yield. The inclusion of landraces increased the number of detected marker-trait associations. Integration of the present association mapping results with previous QTL linkage mapping studies for TY, TSC, TSY, TW, TN, and tuberization revealed some hot spots of QTL for these traits in the potato genome. The genomic positions of markers linked or associated with QTL for complex tuber traits suggest high multiplicity and genome wide distribution of the underlying genes.


Subject(s)
Genetic Markers , Plant Tubers/chemistry , Solanum tuberosum/genetics , Starch/chemistry , Alleles , Chromosome Mapping , DNA, Plant/genetics , Genetics, Population , Genotype , Linkage Disequilibrium , Microsatellite Repeats , Phenotype , Polymorphism, Single Nucleotide , Quantitative Trait Loci , Solanum tuberosum/chemistry
17.
Allergol. immunopatol ; 43(5): 507-526, sept.-oct. 2015. ilus, tab
Article in English | IBECS | ID: ibc-141114

ABSTRACT

The present document offers an update on the recommendations for managing patients with cow's milk allergy - a disorder that manifests in the first year of life, with an estimated prevalence of 1.6-3% in this paediatric age group. The main causal allergens are the caseins and proteins in lactoserum (beta-lactoglobulin, alpha-lactoalbumin), and the clinical manifestations are highly variable in terms of their presentation and severity. Most allergic reactions affect the skin, followed by the gastrointestinal and respiratory systems, and severe anaphylaxis may occur. The diagnosis of cow's milk allergy is based on the existence of a suggestive clinical history, a positive allergy study and the subsequent application of controlled exposure testing, which constitutes the gold standard for confirming the diagnosis. The most efficient treatment for cow's milk allergy is an elimination diet and the use of adequate substitution formulas. The elimination diet must include milk from other mammals (e.g., sheep, goat, etc.) due to the risk of cross-reactivity with the proteins of cow's milk. Most infants with IgE-mediated cow's milk allergy become tolerant in the first few years of life. In those cases where cow's milk allergy persists, novel treatment options may include oral immunotherapy, although most authors do not currently recommend this technique in routine clinical practice. Enough evidence is not there to confirm the efficacy of elimination diets in the mother and infant for preventing the appearance of cow's milk allergy. Likewise, no benefits have been observed with prebiotic and probiotic dietetic supplements in infants for preventing food allergy


No disponible


Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Milk Hypersensitivity/diagnosis , Milk Hypersensitivity/therapy , Milk Hypersensitivity/epidemiology , Milk Hypersensitivity/pathology , Milk Hypersensitivity/prevention & control , Breast-Milk Substitutes , Breast Feeding , Immunoglobulin E , Milk Proteins/adverse effects , Desensitization, Immunologic , Immune Tolerance , Erythema , Urticaria , Dermatitis, Atopic , Immunotherapy , Administration, Oral , Soy Milk , Infant Formula , Diet Therapy/methods , Hypersensitivity, Immediate
19.
An. pediatr. (2003. Ed. impr.) ; 83(1): 63.e1-63.e10, jul. 2015. tab, graf
Article in Spanish | IBECS | ID: ibc-139485

ABSTRACT

Las vacunaciones constituyen una de las principales herramientas de salud pública para el control de las enfermedades inmunoprevenibles. Si un niño es etiquetado de haber presentado una reacción alérgica a una vacuna es probable que se suspendan las siguientes inmunizaciones, con los riesgos que ello conlleva. La tasa de reacciones alérgicas graves es muy baja, oscilando entre 0,5 y 1/100.000 dosis. Las proteínas causantes de las reacciones alérgicas, más que los propios antígenos vacunales, son frecuentemente componentes residuales del proceso de fabricación, como son la gelatina y el huevo, y más raramente las levaduras o el látex. La mayoría de las reacciones son leves y localizadas en el lugar de la inyección, aunque en algunos casos pueden producirse reacciones anafilácticas graves. Si se sospecha que se ha producido una reacción alérgica inmediata a la vacuna, o si debemos vacunar a un niño con alergia a alguno de sus componentes, se deberá realizar un correcto diagnóstico de la posible alergia y conocer los componentes habituales de cada vacuna con el fin de determinar si la vacunación puede continuarse de forma segura


Vaccinations are one of the main public health tools for the control of vaccine-preventable diseases. If a child is labeled to have had an allergic reaction to a vaccine, the next immunizations will probably be suspended in that child, with the risks involved in this decision. The rate of severe allergic reactions is very low, ranging between 0.5-1/100,000 doses. The causes of allergic reactions to vaccines, more than the vaccine itself, are often due to residual protein components in the manufacturing process, such as gelatin or egg, and rarely to yeast or latex. Most of vaccine reactions are mild, localized at the site of injection, but in some circumstances, severe anaphylactic reactions can occur. If an immediate-type allergic reaction is suspected when vaccinating, or a child allergic to some of the vaccine components has to be vaccinated, a correct diagnosis of the possible allergy has to be made. The usual components of each vaccine should be known, in order to determine if vaccination can be performed safely on the child


Subject(s)
Child , Humans , Drug Hypersensitivity/diagnosis , Vaccines/adverse effects , Hypersensitivity, Immediate/complications , Risk Factors , Drug Compounding , Anaphylaxis/diagnosis
20.
Allergol Immunopathol (Madr) ; 43(5): 507-26, 2015.
Article in English | MEDLINE | ID: mdl-25800671

ABSTRACT

The present document offers an update on the recommendations for managing patients with cow's milk allergy - a disorder that manifests in the first year of life, with an estimated prevalence of 1.6-3% in this paediatric age group. The main causal allergens are the caseins and proteins in lactoserum (beta-lactoglobulin, alpha-lactoalbumin), and the clinical manifestations are highly variable in terms of their presentation and severity. Most allergic reactions affect the skin, followed by the gastrointestinal and respiratory systems, and severe anaphylaxis may occur. The diagnosis of cow's milk allergy is based on the existence of a suggestive clinical history, a positive allergy study and the subsequent application of controlled exposure testing, which constitutes the gold standard for confirming the diagnosis. The most efficient treatment for cow's milk allergy is an elimination diet and the use of adequate substitution formulas. The elimination diet must include milk from other mammals (e.g., sheep, goat, etc.) due to the risk of cross-reactivity with the proteins of cow's milk. Most infants with IgE-mediated cow's milk allergy become tolerant in the first few years of life. In those cases where cow's milk allergy persists, novel treatment options may include oral immunotherapy, although most authors do not currently recommend this technique in routine clinical practice. Enough evidence is not there to confirm the efficacy of elimination diets in the mother and infant for preventing the appearance of cow's milk allergy. Likewise, no benefits have been observed with prebiotic and probiotic dietetic supplements in infants for preventing food allergy.


Subject(s)
Milk Hypersensitivity , Biomarkers/blood , Desensitization, Immunologic , Diet Therapy/methods , Humans , Immunoglobulin E/blood , Immunoglobulin E/immunology , Milk Hypersensitivity/diagnosis , Milk Hypersensitivity/immunology , Milk Hypersensitivity/therapy , Milk Proteins/adverse effects , Milk Proteins/immunology , Prognosis , Skin Tests
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