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1.
Anat Rec (Hoboken) ; 2024 Apr 10.
Artigo em Inglês | MEDLINE | ID: mdl-38600433

RESUMO

Non-mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe into the wide range of unexpected NMS paleoneurological diversity. First, we describe adaptations to low-frequency hearing and low-light conditions in the non-mammalian cynodont Cistecynodon parvus, supporting adaptations to an obligatory fossorial lifestyle. Second, we describe the uniquely complex and three-dimensional maxillary canal morphology of the biarmosuchian Pachydectes elsi, which suggests that it may have used its cranial bosses for display or low-energy combat. Finally, we introduce a paleopathology found in the skull of Moschognathus whaitsi. Since the specimen was not fully grown, this condition suggests the possibility that this species might have engaged in playful fighting as juveniles-a behavior that is both social and structured. Additionally, this paper discusses other evidence that could indicate that tapinocephalid dinocephalians were social animals, living and interacting closely with one another. Altogether, these examples evidence the wide range of diversity of neurological structures and complex behavior in NMS.

2.
Clin Neurol Neurosurg ; 240: 108256, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38547629

RESUMO

INTRODUCTION: Ventriculoperitoneal shunt (VPS) infection is a severe complication. Early diagnosis could help to decrease morbidity and treatment costs. Lactate has been used for the diagnosis of other central nervous system infections. The aim of this study is to determine the usefulness of lactate for the diagnosis of VPS infection. METHODOLOGY: Retrospective cohort study. Lactate was measured in patients who consulted with VPS dysfunction between May 2019 and May 2022. Mean were compared according to culture results. A Receiver Operating Characteristic (ROC) curve was performed to determine the appropriate cut-off point. RESULT: Lactate has a high negative predictive value but a low positive predictive value for the diagnosis of ventriculitis.


Assuntos
Ácido Láctico , Derivação Ventriculoperitoneal , Humanos , Derivação Ventriculoperitoneal/efeitos adversos , Estudos Retrospectivos , Feminino , Masculino , Ácido Láctico/líquido cefalorraquidiano , Criança , Pré-Escolar , Lactente , Estudos de Coortes , Adolescente , Ventriculite Cerebral/líquido cefalorraquidiano , Ventriculite Cerebral/diagnóstico
3.
Semergen ; 50(7): 102224, 2024 Mar 29.
Artigo em Espanhol | MEDLINE | ID: mdl-38554677

RESUMO

INTRODUCTION: There are few data about the optimal use of natriuretic peptides (NP) in the Primary Care (PC) setting. The aim to assess how, through a common coordinated PC-hospital care pathway, the use of NPs in patients with suspected heart failure (HF) is improved. MATERIAL AND METHODS: Analytical, experimental, prospective, non-randomized study. An intervention group composed of 22 PC physicians from 2 health centers is provided with face-to-face training and a consensual protocol is attached with a cut-off point of NT-proBNP> 300 pg/mL as pathological. The control group is made up of the rest of PC physicians in the healthcare area. The aim is to compare the use and results of PN in both groups. Propensity analysis is performed so thar the patient populations with requested PN are comparable. RESULTS: From June 2021 to March 2022, NP was requested in 103 and 105 patients in the intervention/control groups. Both populations were similar, with equal HF risk. Symptomatology was present in 100% of intervention vs 41% of asymptomatic patients in the control group (p <0.001). ECG was performed in 100% vs 33.3%, p <0.001. Optimal NP indication in 76.7% vs 29.5%, p <0.001. In the intervention group more patients with NT-proBNP> 300 pg/mL are referred to cardiology consultations (76.6% vs 27.2%, p 0.001). CONCLUSION: The optimal indication for NP and its interpretation as a diagnostic tool for HF, in the PC setting seems not to be appropriate, but improvable with a coordinated and multidisciplinary intervention approach.

5.
Sci Total Environ ; 912: 169273, 2024 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-38086475

RESUMO

In this research, aged plastic fragments collected from vineyards were characterized in terms of composition, residues of pesticides, and their potential to exchange these compounds with the aquatic media. To this end, we employed the qualitative and quantitative information provided by complementary analytical techniques, including chromatography, organic and inorganic mass spectrometry, infrared spectroscopy and electronic microscopy. Debris of weathered plastics were identified as polypropylene and polyethylene, containing different types of additives, from organic UV stabilizers to inorganic fillers, such as calcium salts. Regardless of polymer type, plastic litter collected from vineyards contained residues of pesticides, and particularly of fungicides, with total concentrations in the range of values from 114 ng g-1 to 76.4 µg g-1. Data obtained under different extraction conditions suggested that a fraction of these compounds was absorbed in aged polymers, penetrating inside the material. The parallel analysis of plastic litter and vineyard soils reflected higher pesticide residues in the former matrix. Furthermore, several fungicides, considered as labile in vineyard soils (i.e. zoxamide and folpet), were those showing the highest levels in plastic litter. Simulated sorption-desorption studies, with plastic debris in contact with surface water, demonstrated the higher affinity of aged materials by moderately polar pesticides than their new counterparts. For the first time, the manuscript highlights the presence of plastic litter in vineyards soils, reflecting the accumulation of several fungicides in this matrix, in some cases, with a different stability pattern to that observed in the soil from same vineyards.

6.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1559691

RESUMO

Antecedentes: el intento de suicidio es el principal factor de riesgo de muerte por suicidio. La Organización Mundial de la Salud sugiere grupos de apoyo como intervención para esta población. Objetivo: Este estudio tuvo como objetivo determinar la eficacia de los grupos de apoyo de pares para sobrevivientes de intento de suicidio (SOSA). Método: Revisión sistemática (PROSPERO ID: CRD42022307581). Resultados: En total se identificaron 946 artículos potenciales, se revisaron 81 textos completos y se incluyó un artículo. El artículo informa sobre un estudio piloto abierto con evaluaciones pre y post intervención, sin grupo de control y con alto riesgo de sesgo. Esta es una intervención prometedora, porque los resultados mostraron una disminución de la ideación suicida (d=0,33), y del intento de suicidio (d=0,31). El pequeño número de investigaciones empíricas limita las generalizaciones. Conclusión: El nivel de certeza de la evidencia es bajo (baja certeza), por lo tanto, el grado de recomendación corresponde a evidencia insuficiente (I), para recomendar esta estrategia para las políticas públicas. En este artículo se analizan las razones de estos resultados y los posibles caminos para avanzar en este campo.


Background: Suicide attempt is the main risk factor for death by suicide. The World Health Organization (WHO) suggests support groups as an intervention for this population. Objective: This study aimed to assess the efficacy of peer-support groups for survivors of suicide attempt (SOSA). Method: Systematic review (PROSPERO ID: CRD42022307581). Results: In total, 946 potential articles were identified, 81 full texts were reviewed, and one article was included. The article reported an open-label pilot study with pre- and post-intervention evaluations, without a control group, and with a high risk of bias. This is a promising intervention because the results showed decreased suicidal ideation (d=0.33) and suicide attempt (d=0.31). The small number of empirical investigations limit generalizations. Conclusion: The level of certainty of evidence is low (low certainty); therefore, the grade of recommendation corresponds to insufficient evidence (I) to recommend this strategy for public policies. The reasons for these results and possible paths to advance the field are discussed in this article.

7.
Chemosphere ; 341: 140098, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37683952

RESUMO

An automated analytical methodology was developed, validated and applied to monitor 73 organic pollutants (pesticides and pharmaceuticals) in surface and groundwater samples obtained in watersheds from an intensive viticulture, rural region, in the Northwest of Spain. Filtered samples were concentrated using a reusable solid-phase extraction sorbent, on-line combined with liquid chromatography tandem mass spectrometry (LC-MS/MS). The analytical procedure achieved limits of quantification between 1 ng L-1 and 10 ng L-1, with a throughput of 2 samples hour-1, providing accurate recoveries for more than 90% of the 73 selected compounds, using calibration solutions prepared in ultrapure water (in presence of methanol and formic acid) as neat solvent. The distribution and the concentrations of pesticides in small streams impacted by discharges of treated municipal wastewaters were different in rural and residential areas. On the other hand, pharmaceuticals showed a similar distribution in both streams. In surface waters from viticulture impacted watersheds, with a limited influence of municipal wastewaters, pulses of pesticides were noticed, with values above 100 ng L-1 for several fungicides. Cardiovascular pharmaceuticals, psychiatric drugs and/or their transformation products were also ubiquitous in these samples, with low, but relatively stable concentrations among sampling campaigns. Within the suite of investigated compounds, maximum pesticide residues remained below their predicted-non effect concentration (PNEC) in all samples. On the other hand, the environmental concentrations of the cardiovascular drug olmesartan stayed systematically above its PNEC in fresh water samples.


Assuntos
Praguicidas , Cromatografia Líquida , Espanha , Águas Residuárias , Espectrometria de Massas em Tandem , Medição de Risco , Preparações Farmacêuticas
8.
Chemosphere ; 335: 139094, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37268235

RESUMO

Sludge is one of the most problematic residues generated during wastewater treatment. Herein, we validate a single-step, sensitive procedure for the determination of a selection of 46 basic micro-pollutants, either used as pharmaceuticals or pesticides, in sludge from municipal sewage treatment plants (STPs), using liquid chromatography tandem mass spectrometry as determination technique. The proposed method permitted to achieve accurate recoveries (values from 70% to 120%, for samples spiked at different concentration levels) using solvent-based calibration standards. This feature, combined with limits of quantification lower than 5 ng g-1 (dry weight), allowed the rapid and sensitive quantification of target compounds in freeze-dried sludge samples. Out of 46 investigated pollutants, 33 species showed detection frequencies above 85% in a group of 48 sludge samples, obtained from 45 STPs located in the Northwest of Spain. The assessment of eco-toxicological risks associated to sludge disposal as fertilizer in agriculture and/or forestry, considering average concentrations found in sludge samples, highlighted eight pollutants (sertraline, venlafaxine, N-desethyl amiodarone, amiodarone, norsertraline, trazodone, amitriptyline and ketoconazole) representing an environmental hazard based on ratios between predicted soil levels and non-effect concentrations estimated using the equilibrium partition method.


Assuntos
Amiodarona , Poluentes Ambientais , Poluentes Químicos da Água , Purificação da Água , Esgotos/química , Poluentes Ambientais/análise , Espanha , Amiodarona/análise , Medição de Risco , Poluentes Químicos da Água/análise
9.
Semergen ; 49(6): 101999, 2023 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-37302207

RESUMO

INTRODUCTION AND AIMS: During clinical trials effective reduction of blood pressure (BP) leads to a reduction in the incidence of cardiovascular (CV) morbimortality. Our main aim is to ascertain whether, under actual conditions of clinical practice, BP monitoring leads to a long-term reduction in CV events. PATIENTS AND METHODS: The study was performed on 164 patients with hypertension (HT) selected among patients who came to family medicine consultations because of HT. An analysis was performed between patients who presented clinical BP lower than 140/90mmHg and those that had higher levels. When patients entered the study, they were followed up until a CV event occurred or up to a maximum of 20 years, at which time follow up ended. RESULTS: Of the total of 164 patients, good control of BP was attained by 93 (56.7%), and 71 did not attain good control (42.2%). In the multivariate analysis, the only predictive variable for CV events was the lack of strict control of BP (HR: 2.93; 95% CI: 1.45-5.89; p=0.003), and the female sex was protective for CV events (HR: 0.37; 95% CI: 0.18-0.74; p=0.005). CONCLUSIONS: The fundamental predictor variable of CV morbimortality in patients with HT is the lack of HT strict control; the women also had fewer CV complications.


Assuntos
Doenças Cardiovasculares , Hipertensão , Humanos , Feminino , Espanha/epidemiologia , Hipertensão/complicações , Pressão Sanguínea , Doenças Cardiovasculares/etiologia
10.
Sci Total Environ ; 894: 164684, 2023 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-37315594

RESUMO

Microplastics are one of the major environmental issues that need to be addressed because they are starting to impact food chains and are also affecting human populations. The size, colour, form, and abundance of microplastics in young blennies of the species Eleginops maclovinus were examined in the current study. While the stomach contents of 70 % of the studied individuals contained microplastics, 95 % of them included fibres. Individual size and the largest particle size that can be eaten, which ranges between 0.09 and 1.5 mm present no statistical correlation. The quantity of particles taken in by each individual does not change with size. The most present microfibers colours were blue and red. Sampled fibres were analysed with FT-IR and no natural fibres were detected, proving the synthetic origin of the detected particles. These findings suggest that protected coastlines create conditions that favour the encounter of microplastics increasing local wildlife exposure to microplastics, raising the danger of their ingestion with potential physiological, ecological, economical and human health consequences.


Assuntos
Perciformes , Poluentes Químicos da Água , Humanos , Animais , Microplásticos , Plásticos , Conteúdo Gastrointestinal/química , Monitoramento Ambiental , Espectroscopia de Infravermelho com Transformada de Fourier , Poluentes Químicos da Água/análise
12.
Arch Soc Esp Oftalmol (Engl Ed) ; 98(3): 132-141, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36738919

RESUMO

PURPOSE: To identify clinical and epidemiological characteristics of patients with peripheral facial palsy (PFP) at a tertiary care hospital. METHOD: This is a retrospective observational study of patients with PFP treated at a tertiary medical center. We gathered demographic data, etiology, laterality, recurrence, recovery, clinical ophthalmology, severity according to the House-Brackmann (HB) scale, electrophysiological tests, medical services attended, medical and surgical treatment. RESULTS: Two hundred and eighty-three PFP were included, 135 (48%) were men and 148 (52%) were women p = 0.47). All patients had unilateral involvement. The mean age was 54 ± 20 years. The main etiology was idiopathic in 215 (76%) patients. Median recovery time was 7 weeks. Recovery was complete in 190 (67%) patients. One hundred and seventy (84%) patients with idiopathic PFP had complete recovery, versus 30 (16%) patients with non-idiopathic PFP (p < 0.01). The 84% of patients with HB grade II, recovered completely, while with HB grade VI only 17% recovered (p = 0.003). Two hundred and twenty-nine patients (81%) had lagophthalmos. The majority received ocular surface care treatment in 271 (96%) patients and of these 249 (88%) patients received oral corticosteroid therapy. Thirteen patients (5%) required ophthalmologic surgery. CONCLUSIONS: PFP affects all age ranges, without predilection for sex and unilateral. Its main cause is idiopathic. Recovery is complete in most cases, being more favorable in mild and idiopathic affections. Most only require medical treatment.


Assuntos
Paralisia de Bell , Paralisia Facial , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Paralisia Facial/etiologia , Estudos Retrospectivos , Paralisia de Bell/complicações , Paralisia de Bell/tratamento farmacológico , Centros de Atenção Terciária
13.
J Chromatogr A ; 1687: 463697, 2023 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-36508766

RESUMO

An automated procedure for the simultaneous determination of six anionic pesticides, including glyphosate (GLY) and its transformation product aminomethylphosphonic acid (AMPA), was developed and applied to the analysis of environmental water samples. The proposed method combines on-line concentration of water samples (0.160 mL), with compounds separation in an anion-exchange liquid chromatography (LC) column, followed by their selective determination by tandem mass spectrometry (MS/MS). The global procedure was completed in 25 min, providing limits of quantification (LOQs) between 5 ng L-1 and 20 ng L-1, with reduced effect of the surface water matrix in the efficiency of process (SPE and ionization yields). The method was applied to the analysis of grab samples obtained from three watersheds, in two rural and one residential area, in Galicia (Northwest Spain). Out of six investigated compounds, Fosetyl, AMPA and GLY were noticed in the set of processed samples. Their detection frequencies increased from 12% (Fosetyl) to 88% (AMPA). Median concentrations followed the same trend varying from 9 ng L-1 (Fosetyl) to 44 ng L-1 (AMPA). The higher levels and the large seasonal variations in the residues of the latter species were noticed in small rivers affected by discharges of municipal sewage treatment plants (STPs).


Assuntos
Praguicidas , Praguicidas/análise , Espectrometria de Massas em Tandem/métodos , Ácido alfa-Amino-3-hidroxi-5-metil-4-isoxazol Propiônico/análise , Cromatografia Líquida/métodos , Extração em Fase Sólida/métodos , Água/química , Cromatografia Líquida de Alta Pressão , Glifosato
15.
Artigo em Espanhol | LILACS | ID: biblio-1522094

RESUMO

Bajo la teoría de vía aérea unificada, se ha observado que el asma y la rinosinusitis crónica (RSC) tienen una estrecha relación, con efectos importantes de una enfermedad sobre el control de la otra. El objetivo de esta revisión bibliográfica es clarificar cómo ambas enfermedades se relacionan desde su origen, epidemiología, fisiopatología y tratamiento. Sabemos que la presencia de RSC se asocia con peores resultados del asma, mayor frecuencia de exacerbaciones, hospitalizaciones y mayor uso de corticoides sistémicos. Varios mecanismos parecen tener un rol en la disfunción de la vía aérea inferior en pacientes con RSC, dentro de los cuales se plantea que la respuesta inflamatoria en común de tipo Th2 juega un papel principal. Existe amplia literatura respecto al efecto que tiene el tratamiento de la RSC en el control del asma, en esta revisión se expondrá la evidencia disponible del tratamiento médico con corticoides nasales, montelukast y macrólidos, así como también del tratamiento quirúrgico de la RSC y el uso de biológicos.


Under the unified airway theory, asthma and chronic rhinosinusitis (CRS) have a close relationship, with significant effects of one disease on the control of the other. This bibliographic review aims to clarify how both diseases relate to each other from their origin, epidemiology, pathophysiology, and treatment. CRS is associated with worse asthma outcomes, higher frequency of exacerbations, hospitalizations, and increased use of systemic corticosteroids. Several mechanisms play a role in lower airway dysfunction in patients with CRS, among which the common Th2-type inflammatory response plays a substantial role. There is extensive literature regarding the effect of the treatment of CRS in the control of asthma. We present the available evidence regarding the effect of medical treatment with nasal corticosteroids, montelukast, and macrolides, as well as the surgical treatment and use of biologics.


Assuntos
Humanos , Asma/fisiopatologia , Asma/epidemiologia , Sinusite/fisiopatologia , Sinusite/epidemiologia , Rinite/fisiopatologia , Rinite/epidemiologia , Doença Crônica
16.
Rev. chil. enferm. respir ; 39(3): 233-244, 2023. tab
Artigo em Espanhol | LILACS | ID: biblio-1521832

RESUMO

Objetivo: Describir la prevalencia de diagnóstico autorreportado de asma, comorbilidades, patrones de tratamiento y calidad de vida (CdV) autopercibida en la población chilena, utilizando datos de la Encuesta Nacional de Salud (ENS) de 2016-2017. Métodos: Se analizó la población de la ENS 2016-2017 con ≥ 15 años. Los individuos con asma fueron identificados por autorreporte. Se evaluaron variables sociodemográficas, CdV y salud (autopercepción y/o EQ-5D-3L), estado nutricional, comorbilidades y patrón de tratamiento. Resultados: La prevalencia de asma fue de 5,4% (IC 95%: 4,5-6,5). Se reportó una frecuencia casi 2 veces mayor de CdV autopercibida (6,3% [IC 95%: 3,4-11,3] frente a 3,6% [IC 95%: 2,8-4,5]) y de salud (16,4% [IC 95%: 11,4-23,1] frente a 7,7% [IC 95%: 6,6-8,9]) muy mala/mala/menos que regular en el grupo con asma en comparación con el total de individuos de la ENS. El grupo de asma tuvo mayor frecuencia de al menos algunos problemas en todos los dominios EQ-5D-3L. La comorbilidad más frecuente fue la sintomatología depresiva. El 63% de los encuestados que reconocían tener asma no recibían ningún tratamiento en el momento de la encuesta. Con mayor frecuencia el tratamiento para el asma fue prescrito por un médico general (62,4%/55,4%, medicación de rescate/controlador) y el acceso fue a través del sistema público (65,9%/82,5%, medicación de rescate/controlador). Alrededor de un tercio de la población utilizaba monoterapia con SABA (32,8%). Conclusión: La prevalencia de asma fue del 5,4% y los asmáticos relataron peor CdV y salud. Se observó una baja tasa de tratamiento y de los tratados la mayoría usaba solo medicación de rescate.


Objective: To describe diagnosed asthma prevalence, self-reported comorbidities, treatment patterns and self-perceived quality of life (QoL) in Chilean population, using National Health Survey (NHS) data from 2016-2017. Methods: 2016-2017 NHS population aged ≥ 15 years was analyzed. Asthma individuals were identified by self-report. Sociodemographic variables, QoL and health (self-perception and/or EQ-5D-3L), nutritional status, comorbidities and treatment pattern were evaluated. Results: Asthma prevalence was 5.4% (95% CI: 4.5-6.5). Compared with NHS total individuals, asthma group showed almost 2 times higher frequency of self-perceived QoL (6.3% [95% CI: 3.4-11.3] vs 3.6% [95% CI: 2.8-4.5]) and health (16.4% [95% CI: 11.4-23.1] vs 7.7% [95% CI: 6.6-8.9]) named as very bad/bad/less than regular. In addition, asthma group had a greater frequency of at least some problems in all EQ-5D-3L domains. Depressive symptoms were the most frequently observed comorbidity. 63% of respondents who acknowledged having asthma were not receiving any treatment at the time of the survey. Asthma treatment was most frequently prescribed by a general physician (62.4%/55.4%, rescue/controller medication) and the access occurs in the public system (65.9%/82.5%, rescue/controller medication). About one third of the population used SABA monotherapy (32.8%). Conclusion: Asthma prevalence was 5.4% and asthmatics reported worse QoL and health. A very low treatment rate was observed and those treated, most were under rescue medication.


Assuntos
Humanos , Masculino , Feminino , Adulto , Asma/epidemiologia , Qualidade de Vida , Asma/diagnóstico , Asma/terapia , Tabagismo , Comorbidade , Chile/epidemiologia , Estado Nutricional , Prevalência , Inquéritos Epidemiológicos , Autorrelato , Fatores Sociodemográficos
19.
Actas Dermosifiliogr ; 113(3): 236-243, 2022 Mar.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-35526918

RESUMO

BACKGROUND: Hand eczema is common in patients with atopic dermatitis (AD), but few studies have described the characteristics of these patients in large, representative populations from different geographic regions and occupational settings. OBJECTIVE: To describe the epidemiological, clinical, and allergy profile of patients with hand eczema who underwent patch testing and compare patients with and without AD. METHODS: Analysis of data from the Spanish Contact Dermatitis Registry, a multicenter registry of patients who undergo patch testing in Spain. RESULTS: We included 1466 patients with hand eczema who were patch tested between January 2018 and June 2020. Those with AD were younger and had had symptoms for longer before testing. They were also more likely to have been exposed to occupational triggers (38% vs 53% for patients without AD). The only profession for which significant differences were found was hairdressing. The most common allergens were nickel sulfate, methylchloroisothiazolinone/methylisothiazolinone, cobalt chloride, potassium dichromate, fragrance mixes I and II, and formaldehyde. The most common diagnoses were allergic contact dermatitis (24% vs 31% in patients with and without AD, P=.0224) and irritant contact dermatitis (18% and 35% respectively, P<.001). CONCLUSIONS: AD is common in patients with predominant hand eczema who undergo patch testing. Patients with hand eczema and AD have different clinical and epidemiological characteristics to hand eczema patients in general and their final diagnosis following patch testing is also different.


Assuntos
Dermatite Alérgica de Contato , Dermatite Atópica , Eczema , Dermatoses da Mão , Alérgenos , Dermatite Alérgica de Contato/diagnóstico , Dermatite Alérgica de Contato/epidemiologia , Dermatite Alérgica de Contato/etiologia , Dermatite Atópica/diagnóstico , Dermatite Atópica/epidemiologia , Eczema/diagnóstico , Eczema/epidemiologia , Dermatoses da Mão/diagnóstico , Dermatoses da Mão/epidemiologia , Dermatoses da Mão/etiologia , Humanos , Testes do Emplastro , Sistema de Registros , Estudos Retrospectivos
20.
Sci Rep ; 12(1): 8547, 2022 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-35595798

RESUMO

Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a moderate-risk breast cancer susceptibility gene. Taking advantage of next-generation sequencing techniques, and with the purpose of defining the whole spectrum of possible pathogenic variants (PVs) in this gene, here we have performed a comprehensive mutational analysis of BARD1 in a cohort of 1946 Spanish patients who fulfilled criteria to be tested for germline pathogenic mutations in BRCA1 and BRCA2. We identified 22 different rare germline variants, being 5 of them clearly pathogenic or likely pathogenic large deletions, which account for 0.26% of the patients tested. Our results show that the prevalence and spectrum of mutations in the BARD1 gene might vary between different regions of Spain and expose the relevance to test for copy number variations.


Assuntos
Neoplasias da Mama , Variações do Número de Cópias de DNA , Neoplasias Ovarianas , Proteínas Supressoras de Tumor , Ubiquitina-Proteína Ligases , Proteína BRCA1/genética , Neoplasias da Mama/genética , Variações do Número de Cópias de DNA/genética , Feminino , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Neoplasias Ovarianas/genética , Espanha/epidemiologia , Proteínas Supressoras de Tumor/genética , Ubiquitina-Proteína Ligases/genética
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