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1.
Phys Rev Lett ; 132(22): 221002, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-38877953

RESUMEN

Axionlike early dark energy (EDE) as an extension to Λ cold dark matter (ΛCDM) has been proposed as a possible solution to the "Hubble tension." We revisit this model using a new cosmic microwave background (CMB) temperature and polarization likelihood constructed from the Planck NPIPE data release. In a Bayesian analysis, we find that the maximum fractional contribution of EDE to the total energy density is f_{EDE}<0.061 (without SH0ES) over the redshift range z∈[10^{3},10^{4}] and that the Hubble constant is constrained to lie within the range 66.9

2.
Cytogenet Genome Res ; 158(1): 32-37, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30799418

RESUMEN

This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the origin of the clinical phenotype. MLPA was initially performed followed by aCGH, cytogenetic analysis, and FISH. Cytogenetic analysis of the proband's parents was also done. MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. The size of the deletion as defined by aCGH was 3.2 Mb. The karyotype of the proband was 45,XX,der(1)t(1;22)(p36.3;q11.2)dn,-22, the karyotypes of the parents were normal. FISH analysis showed that the 22q11 deletion occurred in the der(1). No loss or gain of chromosomal material was evident for chromosome 1, as confirmed by MLPA, aCGH, and FISH. Unbalanced translocations resulting in DGS are relatively rare, with limited reports in the literature. To our knowledge, this is the second case involving chromosome 1 and the first one with breakpoints in 1p36 and 22q11.2. This case also emphasizes the importance of combining diagnostic methods to better understand a given genetic abnormality.


Asunto(s)
Síndrome de Deleción 22q11/genética , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 22/genética , Eliminación de Secuencia , Translocación Genética/genética , Cariotipo Anormal , Cromosomas Humanos Par 1/ultraestructura , Cromosomas Humanos Par 22/ultraestructura , Hibridación Genómica Comparativa , Síndrome de DiGeorge/genética , Femenino , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Técnicas de Amplificación de Ácido Nucleico , Síndrome
3.
Int J Health Plann Manage ; 29(4): e329-46, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24254548

RESUMEN

OBJECTIVE: To assess and compare the perceived patient satisfaction with the nursing care in two European countries. METHODS: This was a multicenter cross-national descriptive study. The study included various centers both specialized and general that provide cancer care. The data were collected from hospitalized cancer patients in Greece and Cyprus with the Greek version of the Risser Patient Satisfaction Scale. The scale assessed patients' satisfaction on three distinct dimensions namely "Technical-professional", "Interpersonal-educational" and "Interpersonal-trusting". RESULTS: The analyses revealed that there are significant differences in the total scale (p < 0.05) and the interpersonal-trusting subscale (p < 0.001) between the two countries. In order to gain an in-depth understanding of these findings, the qualitative analysis revealed that the following main themes contributed to the way the patients experienced their hospitalisation: 'safety', 'fear', 'lack of information' and 'continuity of the care'. The patients attributed increased importance to the interpersonal-trusting aspects' influence on their satisfaction. Based on the qualitative data, this was attributed to two main themes namely 'individuality' and 'humane care'. CONCLUSIONS: The European environment offers an ideal setting to examine satisfaction variations among patients. Although the findings demonstrated a positively skewed attitude by the patients towards the care provided by the nurses in both countries, these findings also revealed significant differences. The patients' experiences were explored in light of variations in culture, health systems and the actual differences in quality as perceived by patients.


Asunto(s)
Neoplasias/enfermería , Satisfacción del Paciente , Calidad de la Atención de Salud , Adulto , Anciano , Anciano de 80 o más Años , Características Culturales , Chipre , Femenino , Grecia , Hospitalización , Humanos , Masculino , Persona de Mediana Edad , Relaciones Enfermero-Paciente , Investigación Cualitativa
4.
Prenat Diagn ; 32(7): 680-5, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22513450

RESUMEN

OBJECTIVE: Evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. METHODS: From 1 June 2006 to 1 June 2010, dual testing by QF-PCR and karyotype analysis was performed in 13,500 prenatal samples. The rates of concordant results between the two methods were evaluated and the rates of clinically significant chromosomal abnormalities undetected by QF-PCR were assessed. RESULTS: Abnormal karyotype was found in 320 out of 13,500 cases (2.37%, 95% confidence interval (CI) 2.11-2.63%). From these, QF-PCR did not detect the abnormality in 70 cases (0.52%, 95% CI 0.4-0.64%), whereas 34 had a high/unknown risk of adverse outcome (0.25%, 95% CI 0.17-0.33%). By selectively applying dual testing only at cases with ultrasound findings and/or genetic history, 13 cases of high/unknown risk would have been missed (0.1%, 95% CI 0.05-0.15%). CONCLUSION: Selective dual testing is expected to achieve a serious beneficial economical outcome and reduce parental anxiety produced by ambiguous cytogenetic findings. However, the percentage of 0.1% undetected clinically significant abnormalities cannot be ignored. A suggestion would include the offering of a choice to the pregnant women, undergoing prenatal screening, by informing them about different approaches and various complications.


Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Cariotipificación/métodos , Reacción en Cadena de la Polimerasa/métodos , Diagnóstico Prenatal/métodos , Amniocentesis , Muestra de la Vellosidad Coriónica , Femenino , Humanos , Repeticiones de Microsatélite , Embarazo , Sensibilidad y Especificidad
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