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1.
J Adv Nurs ; 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32068285

RESUMO

AIMS: To evaluate cognitive and behavioral factors related to pain and poor sleep quality in women diagnosed with fibromyalgia and to develop and test the effects of a web-based therapeutic education intervention on pain intensity, pain catastrophizing, chronic pain self-efficacy, sleep quality, dysfunctional beliefs and attitudes about sleep and quality of life and health status related to fibromyalgia. DESIGN: The project will employ a sequential exploratory mixed methods research design. METHODS: For the qualitative phase, a theoretical sample living in the community will be recruited to participate in personal, semi-structured interviews. For the quantitative phase, a sample of adult women with fibromyalgia will be recruited from secondary care centers and randomly allocated an intervention or a control group. The study protocol was approved in 2019. DISCUSSION: Fibromyalgia is the most common central sensitivity syndrome and one of the principal worldwide causes of chronic widespread pain among the adult population. Poor sleep quality is a highly prevalent and troublesome symptom for patients with fibromyalgia. Psychosocial and behavioral factors have been shown to relate intimately with the symptom experiences of patients with fibromyalgia; pain catastrophizing and dysfunctional beliefs and attitudes about sleep can perpetuate those and other fibromyalgia symptoms. CONCLUSION: It is imperative to reflect patients' actual symptom experiences to develop effective symptom management strategies. In the Internet era, this project's proposed web-based therapeutic education intervention could offer women with fibromyalgia a new avenue for treatment as part of standard fibromyalgia management programs in primary and secondary healthcare services. IMPACT: Pain and poor sleep quality are highly prevalent and troublesome symptoms for patients with fibromyalgia. The web-based therapeutic education intervention proposed by this project could provide women with fibromyalgia a new avenue for treatment in primary and secondary healthcare services.

3.
Artigo em Inglês | MEDLINE | ID: mdl-31817401

RESUMO

Nursing staff who provide care in the nursing homes of Catalonia have more precarious work conditions, including more demanding schedules and work overload, than those in other areas of care. This situation entails two major problems: Detrimental health results for nurses who face psychosocial and physical risks and a negative impact on the care provided to patients, with a decrease in the quality of care. This study aimed to describe the precarious employment situation of nursing staff in nursing homes. We carried out a descriptive study based on the employment precariousness scale (EPRES), which was administered to a sample of 239 nurses and nursing assistants working in public and private nursing homes in Catalonia. The highest level of job insecurity occurred among nursing assistants and in privately managed nursing homes. The precariousness of the working conditions of nursing staff poses a risk both to the workers themselves and to the people they tend to. For this reason, there is a need for greater knowledge on the scale of the problem and the implementation of appropriate legislative measures to alleviate it.

4.
Disabil Rehabil ; : 1-10, 2019 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-31868034

RESUMO

Purpose: This study aimed to explore and compare the perceptions of patients and primary healthcare professionals regarding the management of chronic low back pain.Methods: Qualitative study using 26 semi-structured individual interviews, and one discussion group, carried out in primary care in Lleida, Spain.Results: Patients and primary healthcare professionals both had assumptions pertaining to: (1) the diagnosis and meaning of chronic low back pain, (2) expectations regarding treatment for pain reduction, and (3) communication between primary healthcare professionals and patients with chronic low back pain. Results suggest a mutual dissatisfaction with the diagnosis of chronic low back pain and a lack of understanding between primary healthcare professionals and patients. Some contradictions between them were also noted: the patients wanted quick solutions to reduce their pain, but the primary healthcare professionals required an accurate etiology to prescribe treatment, and the patients did not always follow the primary healthcare professionals' recommendations.Conclusions: Diagnosing and treating chronic low back pain is compromised due to differing expectations and the communication barriers that exist between healthcare professionals and their patients. Primary healthcare professionals should be aware of the power of their explanations and recommendations to patients.Implications for RehabilitationPrimary healthcare professionals should negotiate treatments with patients and adapt them to their individual needs, according to a Patient-Centered approach and the biopsychosocial model of pain.Primary healthcare professionals should explain to patients the underlying mechanisms and multifactorial nature of chronic low back pain.Primary healthcare professional-patient communication needs to be improved to help patients to better understand their chronic condition.The healthcare professionals in Spain should be more trained into the (bio)psychosocial model of long-term pain, stop searching for non-evident pathologies and change their biomedical beliefs.

5.
Fertil Steril ; 112(5): 831-841, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31587805

RESUMO

OBJECTIVE: To identify candidates of fertility biomarkers among pairs of human sperm microRNAs. DESIGN: Expression data of 736 sperm microRNAs from fertile and infertile individuals characterized in previous published studies by means of TaqMan quantitative polymerase chain reaction (PCR) were reexamined. A set of microRNA pairs with the best biomarker potential were selected and validated by means of quantitative real-time (qRT) PCR in an independent cohort. SETTING: University laboratory. PATIENT(S): Semen samples were obtained from fertile (n = 10) and infertile (asthenozoospermia, n = 10; teratozoospermia, n = 10; oligozoospermia, n = 10; unexplained male infertility [UMI], n = 8) individuals. The validation cohort included 9 fertile donors and 14 infertile patients with different seminal alterations. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Spearman test was used to select microRNA pairs with a correlated expression in fertile individuals and a noncorrelated expression in each infertile group. The biomarker potential of these pairs was determined with the use of receiver operating characteristic curves. The differential relative expression of each pair in fertile and infertile populations was verified (Mann-Whitney test). Those pairs with best results were validated by qRT-PCR. RESULT(S): Forty-eight pairs showed significant correlations in the fertile group. The pairs that were uncorrelated in the infertile populations and displayed the best biomarker potential were hsa-miR-942-5p/hsa-miR-1208 (asthenozoospermia), hsa-miR-296-5p/hsa-miR-328-3p (teratozoospermia), hsa-miR-139-5p/hsa-miR-1260a (oligozoospermia), and hsa-miR-34b-3p/hsa-miR-93-3p (UMI). The hsa-miR-942-5p/hsa-miR-1208 pair showed the greatest potential for detecting seminal alterations in the validation cohort (85.71% true positives). CONCLUSION(S): The pairs hsa-miR-942-5p/hsa-miR-1208 and hsa-miR-34b-3p/hsa-miR-93-3p have the potential to become new molecular biomarkers that could help to diagnose male infertility, especially in cases of UMI or when seminal parameters are close to the threshold values.

6.
J Assist Reprod Genet ; 36(10): 1975-1987, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31396849

RESUMO

PURPOSE: To determine the consequences of an altered sperm fluorescence in situ hybridization (FISH) result for ART outcomes and the indications for a sperm FISH analysis. METHODS: Data from 439 infertile men were collected. Bivariate analyses were performed to determine the association of men's age, seminal alterations, and sperm FISH indication, with the incidence of X, Y, 13, 18, and 21 sperm chromosomal abnormalities. A multivariate logistic regression analysis was performed to establish the most predictive variables for altered sperm FISH. Results from the IVF/ICSI cycles were collected for 248 out of 439 patients. Two distinct groups were established: 151 couples that used their own oocytes and 97 couples involved in egg donation programs. In both groups, ART outcomes were compared between normal and altered sperm FISH. RESULTS: Teratozoospermia and oligozoospermia were associated with sperm chromosome anomalies (p < 0.05). Indications for sperm FISH analysis with the highest predictability were teratozoospermia, male age, oligozoospermia, and implantation failure (AUC = 0.702). Embryo quality (p = 0.096), pregnancy rate (p = 0.054), and implantation rate (p = 0.089) were higher in own-oocytes couples with normal sperm FISH than in altered sperm FISH couples, although differences were not statistically significant. In donor-oocytes couples, in which high-quality embryos were transferred later than in own-oocytes couples (3.8 vs. 3.0 days), we did not identify differences in the ART outcome between normal and altered sperm FISH couples. In both groups, the possible interference of woman age was negligible. CONCLUSIONS: Sperm FISH is indicated in middle-aged oligoteratozoospermic patients with implantation failures in previous IVF/ICSI cycles. Sperm chromosome anomalies have a moderate detrimental impact on embryo quality, implantation, and pregnancy rates.

7.
Nurs Ethics ; : 969733019843634, 2019 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-31113269

RESUMO

BACKGROUND: The decision whether to initiate cardiopulmonary resuscitation may sometimes be ethically complex. While studies have addressed some of these issues, along with the role of nurses in cardiopulmonary resuscitation, most have not considered the importance of nurses acting as advocates for their patients with respect to cardiopulmonary resuscitation. RESEARCH OBJECTIVE: To explore what the nurse's advocacy role is in cardiopulmonary resuscitation from the perspective of patients, relatives, and health professionals in the Basque Country (Spain). RESEARCH DESIGN: An exploratory critical qualitative study was conducted from October 2015 to March 2016. Thematic analysis was used to analyse the data. PARTICIPANTS: Four discussion groups were held: one with patients and relatives (n = 8), two with nurses (n = 7 and n = 6, respectively), and one with physicians (n = 5). ETHICAL CONSIDERATIONS: Approval was obtained from the Basque Country Clinical Research Ethics Committee. FINDINGS: Three significant themes were identified: (a) accompanying patients during end of life in a context of medical dominance, (b) maintaining the pact of silence, and (c) yielding to legal uncertainty and concerns. DISCUSSION: The values and beliefs of the actors involved, as well as pre-established social and institutional rules reduced nurses' advocacy to that of intermediaries between the physician and the family within the hospital environment. On the contrary, in primary health care, nurses participated more actively within the interdisciplinary team. CONCLUSION: This study provides key information for the improvement and empowerment for ethical nursing practice in a cardiac arrest, and provides the perspective of patients and relatives, nurses and physicians.

8.
PeerJ ; 7: e6410, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30746310

RESUMO

Background: Nurses are often the first to activate the chain of survival when a cardiorespiratory arrest happens. That is why it is crucial that they keep their knowledge and skills up-to-date and their attitudes to resuscitation are very important. The main aim of this study was to analyse whether the level of theoretical and practical understanding affected the attitudes of nursing staff. Methods: A questionnaire was designed using the Delphi technique (three rounds). The questionnaire was adjusted and it was piloted on a test-retest basis with a convenience sample of 30 registered nurses. The psychometric characteristics were evaluated using a sample of 347 nurses using Cronbach's alpha. Descriptive analysis was performed to describe the sociodemographic variables and Spearman's correlation coefficient to assess the relationship between two scale variables. Pearson's chi-squared test has been used to study the relationship between two categorical variables. Wilcoxon Mann Whitney test and the Kruskal-Wallis test were performed to establish relationships between the demographic/work related characteristics and the level of understanding. Results: The Knowledge and Attitude of Nurses in the Event of a Cardiorespiratory Arrest (CAEPCR) questionnaire comprised three sections: sociodemographic information, theoretical and practical understanding, and attitudes of ethical issues. Cronbach's alpha for the internal consistency of the attitudes questionnaire was 0.621. The knowledge that nurses self-reported with regard to cardiopulmonary arrest directly affected their attitudes. Their responses raised a number of bioethical issues. Conclusions: CAEPCR questionnaire is the first one which successfully linked knowledge of cardiopulmonary resuscitation to the attitudes towards ethical issues Health policies should ensure that CPR training is mandatory for nurses and all healthcare workers, and this training should include the ethical aspects.

9.
BMC Fam Pract ; 20(1): 31, 2019 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-30791879

RESUMO

BACKGROUND: Personal convictions in referral to pain cause misbeliefs in health professionals, which can influence patients who suffer from non-specific chronic low back pain. Likewise, health professionals' beliefs affect their advice and attitudes towards patients' treatment, becoming a possible cause of greater disability. The development of educational interventions based on the best scientific evidence in neurophysiology of pain could be a way to provide information and advice to primary care health professionals to change their cognition towards chronic non-specific low back pain. The use of Information and Communication Technologies allows the development of web sites, which might be one of the effective resources to modify misbeliefs and attitudes, in relation to the origin and meaning of non-specific chronic low back pain, of primary care professionals and that may modify their attitudes in patients' treatment. METHODS: The aim of this project is to identify misbeliefs and attitudes of primary care physicians and nurses about chronic non-specific low back pain to develop a web-based educational tool using different educational formats and gamification techniques. This study has a mixed-method sequential exploratory design. The participants are medical and nursing staff working in primary care centers in the city of Lleida, Spain. For the qualitative phase of this study, the authors will use personal semi-structured interviews. For the quantitative phase the authors will use an experimental study design. Subjects will be randomly allocated using a simple random sample technique. The intervention group will have access to the web site where they will find information related to non-specific chronic low back pain, based on the information obtained in the qualitative phase. The control group will have access to a video explaining the clinical practice guidelines on low back pain. DISCUSSION: This study has been designed to explore and modify the beliefs and attitudes about chronic low back pain of physicians and nurses working in primary care settings, using a web-based educational tool with different educational formats and gamification techniques. The aim of the educational intervention is to change their knowledge about the origin and meaning of pain, with the result of reducing their misbeliefs and attitudes of fear avoidance. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02962817 . Date of registration: 11/09/2016.

10.
Am J Clin Nutr ; 108(5): 953-962, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30475967

RESUMO

Background: Human semen quality has declined in industrialized countries. Pollution, smoking, and the consumption of a Western-style diet are all hypothesized as potential causes. Objective: We evaluated the effect of chronic consumption of nuts on changes in conventional semen parameters and the potential mechanisms implicated. Design: The FERTINUTS study was a 14-wk randomized, controlled, parallel trial. A total of 119 healthy men, aged 18-35 y, were allocated to 1 of 2 intervention groups: one group was fed the usual Western-style diet enriched with 60 g of a mixture of nuts/d (nut group), and the other was fed the usual Western-style diet avoiding nuts (control group). Semen and blood samples were collected at baseline and at the end of the intervention. Dietary information was recorded throughout the trial. Changes in conventional semen parameters (pH, volume, sperm count and concentration, motility, and morphology) were determined as primary outcomes. The effect of nut consumption on sperm DNA fragmentation (SDF), reactive oxygen species (ROS) production, chromosome anomalies (X, Y, and 18), total DNA methylation, and microRNA expression were measured in sperm samples as potential causes of the changes in the seminogram. Results: Compared with the control group, improvements in total sperm count (P = 0.002) and vitality (P = 0.003), total motility (P = 0.006), progressive motility (P = 0.036), and morphology of sperm (P = 0.008) were observed in the nut group. Participants in the nut group showed an increase in the consumption of total fat, monounsaturated fatty acids, polyunsaturated fatty acids, magnesium, vitamin E, α-linolenic acid, total omega-3 (n-3) and ω-3:ω-6 ratio intake during the intervention. Participants in the nut group showed a significant reduction in SDF (P < 0.001) and in the expression of hsa-miR-34b-3p (P = 0.036). No significant changes in ROS, sperm chromosome anomalies, or DNA methylation were observed between groups. Conclusions: The inclusion of nuts in a Western-style diet significantly improves the total sperm count and the vitality, motility, and morphology of the sperm. These findings could be partly explained by a reduction in the sperm DNA fragmentation. This trial was registered at ISRCTN as ISRCTN12857940.


Assuntos
Fragmentação do DNA , Dieta Ocidental , Comportamento Alimentar , Nozes , Contagem de Espermatozoides , Motilidade Espermática , Espermatozoides , Adolescente , Adulto , Cromossomos , Metilação de DNA , Dieta , Dieta Mediterrânea , Dieta Ocidental/efeitos adversos , Gorduras na Dieta/administração & dosagem , Ácidos Graxos Ômega-3 , Humanos , Masculino , MicroRNAs/metabolismo , Valor Nutritivo , Espécies Reativas de Oxigênio/metabolismo , Valores de Referência , Sêmen , Análise do Sêmen , Espermatozoides/fisiologia , Adulto Jovem
11.
JCI Insight ; 3(17)2018 09 06.
Artigo em Inglês | MEDLINE | ID: mdl-30185674

RESUMO

The respiratory tract is normally kept essentially free of bacteria by cilia-mediated mucus transport, but in chronic obstructive pulmonary disease (COPD) and cystic fibrosis (CF), bacteria and mucus accumulates instead. To address the mechanisms behind the mucus accumulation, the proteome of bronchoalveolar lavages from COPD patients and mucus collected in an elastase-induced mouse model of COPD was analyzed, revealing similarities with each other and with the protein content in colonic mucus. Moreover, stratified laminated sheets of mucus were observed in airways from patients with CF and COPD and in elastase-exposed mice. On the other hand, the mucus accumulation in the elastase model was reduced in Muc5b-KO mice. While mucus plugs were removed from airways by washing with hypertonic saline in the elastase model, mucus remained adherent to epithelial cells. Bacteria were trapped on this mucus, whereas, in non-elastase-treated mice, bacteria were found on the epithelial cells. We propose that the adherence of mucus to epithelial cells observed in CF, COPD, and the elastase-induced mouse model of COPD separates bacteria from the surface cells and, thus, protects the respiratory epithelium.


Assuntos
Bactérias , Células Epiteliais/metabolismo , Muco/microbiologia , Muco/fisiologia , Doença Pulmonar Obstrutiva Crônica/complicações , Animais , Líquido da Lavagem Broncoalveolar , Fibrose Cística/complicações , Modelos Animais de Doenças , Células Epiteliais/microbiologia , Células Epiteliais/patologia , Feminino , Humanos , Pulmão , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Mucina-5B/genética , Elastase Pancreática , Pseudomonas aeruginosa , Mucosa Respiratória
12.
J Assist Reprod Genet ; 35(11): 1929-1938, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30229502

RESUMO

The production of functional spermatozoa through spermatogenesis requires a spatially and temporally highly regulated gene expression pattern, which in case of alterations, leads to male infertility. Changes of gene expression by chromosome anomalies, gene variants, and epigenetic alterations have been described as the main genetic causes of male infertility. Recent molecular and cytogenetic approaches have revealed that higher order chromosome positioning is essential for basic genome functions, including gene expression. This review addresses this issue by exposing well-founded evidences which support that alterations on the chromosome topology in spermatogenetic cells leads to defective sperm function and could be considered as an additional genetic cause of male infertility.


Assuntos
Aberrações Cromossômicas , Posicionamento Cromossômico , Infertilidade Masculina/etiologia , Espermatogênese , Humanos , Masculino
13.
PeerJ ; 6: e5150, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30002978

RESUMO

Background: Alzheimer's disease (AD) is a neurodegenerative disease that is characterized by deficits in episodic memory. It is the most common form of dementia and affects 50-70% of patients with cognitive impairments over the age of 65. Elderly people are particularly susceptible to malnutrition and that risk is even higher in patients with AD. This study assessed the nutritional status of patients with AD at different stages of AD and explored how that status correlated with cognitive, functional and behavioural variables and caregiver overburden. The characteristics of the diet and the degree of adherence to the Mediterranean diet were also analysed. Methods: This was a cross-sectional study that was representative of the general population and it was carried out in the Unit of Cognitive Disorders, Lleida, Spain. The participants were 111 subjects with AD who were aged 65 and over and still living at home. The subjects' nutritional status was assessed using the Mini Nutritional Assessment (MNA) and Controlling Nutritional Status system. The monthly food intake was estimated using the short Food Frequency Questionnaire and adherence to the Mediterranean diet was evaluated using the Mediterranean Diet Score. The Mini Mental State Examination (MMSE), Global Deterioration Scale, Neuropsychiatric Inventory (NPI) and Zarit Burden Interview (ZBI) were also used. Results: We found that 68% of the subjects presented with a risk of malnutrition and 19% were malnourished according to the MNA scale. Patients ate a higher quantity of meat and dairy products than recommended and fewer products from the remaining healthier food groups. Of the 111 subjects, 73% showed low adherence to the Mediterranean diet and 27% showed moderate adherence. There was a partial correlation between nutritional status and the MMSE when the data were adjusted for age and sex (r = 0, 318; p = 0.001) and inverse correlations were found for functional status (r =  - 0.283; p = 0.004) and the NPI (r =  - 0.409; p = 0.000) and ZBI scales (r =  - 0.433; p = 0.000) when they were adjusted using the same variables. The ZBI scale (OR 1.08, 95% CI [1.01-1.15]) showed an increase in the risk of malnutrition in the multivariate analysis. Discussion: Alterations in nutritional status were more common during the advanced stages of AD and were also associated with behavioural changes and caregiver overburden. Low adherence to traditional healthy diets in Mediterranean countries and food intake profiles should be considered when managing patients with AD. Other countries can use the results to examine diets in people with AD that are high in meat and dairy and low in healthy food groups like fruit and vegetables.

15.
Porto Biomed J ; 3(2): e10, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31595242

RESUMO

Aim: The aim of the study was to map of the literature on the elements contributing to the construction of the health care professional in the context of palliative care. Methods: Scoping review based on Arksey and O'Malley framework. PubMed, Embase, CINAHL, Scopus databases, and gray literature were the sources searched (2005-2015), completed by reference searching, hand searching, and expert consultations. Primary studies focusing on different professionals working in palliative care units or hospice centers were eligible for inclusion. Results: From a total of 3632 articles, 22 met the inclusion criteria. The content of the studies was described and classified in 5 elements: (i) construction and application of the concept of care; (ii) psychosocial effects that the daily care produces; (iii) working conditions that influence the caregiving provided; (iv) knowledge mobilized in the provision of care; and (v) strategies adopted by health care professionals to build relationships. Data about nurses, physicians, and psychologists were found, but no data were found about social workers. Gaps identified in the publications were as follows: relationship competencies and strategies adopted; the real needs from educational programs; and the view of other professionals. Conclusions: Key elements identified in the concept of the construction of the health care professional should be addressed in future interventions: prevention of emotional exhaustion, depersonalization, and achievement of a greater personal accomplishment. In addition, none of the articles retrieved offered the different perspectives of all the disciplines in a multidisciplinary team.

17.
Epigenomics ; 9(10): 1299-1315, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28877596

RESUMO

AIM: To characterize the sperm methylome in semen samples from 19 donors with proven fertility. MATERIALS & METHODS: Bisulfite-converted sperm DNA was hybridized on the HumanMethylation450 Infinium BeadChip platform. CpG fluorescence intensities were extracted and converted to ß-values. RESULTS: The sperm methylome is highly homogeneous and hypomethylated. Genes with hypomethylated promoters are ontologically associated to biological functions related to spermatogenesis and embryogenesis. Sex chromosomes are the most hypomethylated chromosomes, supporting data that indicated their essential role in spermatogenesis. A total of 94 genes are resistant to demethylation, being strong candidates for transgenerational inheritance. CONCLUSION: Spermatozoa carry a homogeneous methylation profile that is a footprint of past events (spermatogenesis), is designed to facilitate future events (embryogenesis) and has a possible influence in the adult life (transgenerational effects).


Assuntos
Metilação de DNA , Epigênese Genética , Espermatozoides/metabolismo , Adulto , Cromossomos Humanos X/genética , Cromossomos Humanos Y/genética , Ilhas de CpG , Desenvolvimento Embrionário/genética , Humanos , Masculino , Regiões Promotoras Genéticas , Espermatogênese/genética , Espermatozoides/citologia
18.
Sci Rep ; 7: 40031, 2017 01 06.
Artigo em Inglês | MEDLINE | ID: mdl-28059126

RESUMO

DiGeorge/velocardiofacial syndrome (DGS/VCFS) is a disorder caused by a 22q11.2 deletion mediated by non-allelic homologous recombination (NAHR) between low-copy repeats (LCRs). We have evaluated the role of LCR22 genomic architecture and PRDM9 variants as DGS/VCFS predisposing factors. We applied FISH using fosmid probes on chromatin fibers to analyze the number of tandem repeat blocks in LCR22 in two DGS/VCFS fathers-of-origin with proven 22q11.2 NAHR susceptibility. Results revealed copy number variations (CNVs) of L9 and K3 fosmids in these individuals compared to controls. The total number of L9 and K3 copies was also characterized using droplet digital PCR (ddPCR). Although we were unable to confirm variations, we detected an additional L9 amplicon corresponding to a pseudogene. Moreover, none of the eight DGS/VCFS parents-of-origin was heterozygote for the inv(22)(q11.2) haplotype. PRDM9 sequencing showed equivalent allelic distributions between DGS/VCFS parents-of-origin and controls, although a new PRDM9 allele (L50) was identified in one case. Our results support the hypothesis that LCR22s variations influences 22q11.2 NAHR events, however further studies are needed to confirm this association and clarify the contribution of pseudogenes and rare PDRM9 alleles to NAHR susceptibility.


Assuntos
Síndrome de DiGeorge/genética , Predisposição Genética para Doença , Histona-Lisina N-Metiltransferase/genética , Variações do Número de Cópias de DNA , Saúde da Família , Humanos , Hibridização in Situ Fluorescente , Reação em Cadeia da Polimerase , Sequências Repetitivas de Ácido Nucleico , Análise de Sequência de DNA
19.
J Adv Nurs ; 73(6): 1433-1442, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27878846

RESUMO

AIM: To explore the concordance between the presence of classic signs of infection and the positive diagnosis identified by the microbiological culture of fluid collected by percutaneous aspiration. BACKGROUND: The classic signs of infection are commonly applied in some contexts to confirm infection in pressure injuries, but its accuracy has been questioned in chronic wounds. Little is known about the concordance of this method with others, such as the deep fluid culture from pressure injuries collected by percutaneous aspiration. DESIGN: Multicentre, cross-sectional observational study. METHODS: Pressure injuries of patients from four health centres were analysed. Three types of data were recorded between February 2011 and March 2012: i) socio-demographic and clinical data, ii) number and type of infection signs and iii) microbiological results of deep fluid culture from injuries. The concordance was calculated with the kappa index to find a possible concordance between both methods. RESULTS: On 40·2% (n = 47) of injuries, two or more classic signs of infection or purulent exudate as unique sign were present, while the total positive results in the microbiological cultures were 50·4% (n = 59). The disparity of positive results, depending on the location and the stage of the pressure injury and the method applied, suggested a poor concordance between methods. The -0·092 kappa index confirmed the non-concordance of the analysed methods. CONCLUSIONS: The tandem strategy is not useful to indicate an infection in pressure injuries. We advocate exploring other signs of infection and the adoption of other more reliable signs together with the classic signs of infection.


Assuntos
/diagnóstico , Lesão por Pressão/complicações , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , /microbiologia , Masculino , Espanha
20.
J Assist Reprod Genet ; 34(1): 131-138, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27655390

RESUMO

PURPOSE: The study aims to determine whether there is an altered bivalent positioning in metaphase I human spermatocytes from Robertsonian translocation carriers. METHODS: Metaphase I human spermatocytes from three 45,XY,der(13;14)(q10;q10) individuals and a 45,XY,der(14;15)(q10;q10) individual were analyzed. Proximity relationships of bivalents were established by analyzing meiotic preparations combining Leishman staining and multiplex-FISH procedures. Poisson regression model was used to determine proximity frequencies between bivalents and to assess associations with chromosome size, gene density, acrocentric morphology, and chromosomes with heterochromatic blocks. The hierarchical cluster Ward method was used to characterize the groups of bivalents with preferred proximities in a cluster analysis. Bivalent groups obtained were individually compared with those obtained in normal karyotype individuals evaluated in a previous study. RESULTS: A total of 1288 bivalents were examined, giving a total of 2289 proximity data. Only four positive significant proximities were detected for each type of Robertsonian translocation. Significant bivalent associations were only observed by small-size chromosomes for MI,22,XY,III(13q14q). These results were clearly divergent from 46,XY individuals. Moreover, cluster analysis revealed that about 30 % of the bivalents showed changes in their proximity relationships in metaphase I. CONCLUSIONS: The territorial organization of bivalents in metaphase I human spermatocytes changes in the presence of a Robertsonian translocation.


Assuntos
Cromossomos/genética , Infertilidade Masculina/genética , Espermatócitos/patologia , Translocação Genética , Cariótipo Anormal , Adulto , Humanos , Hibridização in Situ Fluorescente , Infertilidade Masculina/patologia , Cariotipagem/métodos , Masculino , Meiose/genética , Metáfase , Espermatozoides/patologia
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