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1.
Phys Rev Lett ; 131(17): 171001, 2023 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-37955508

RESUMEN

Pulsar Timing Array experiments probe the presence of possible scalar or pseudoscalar ultralight dark matter particles through decade-long timing of an ensemble of galactic millisecond radio pulsars. With the second data release of the European Pulsar Timing Array, we focus on the most robust scenario, in which dark matter interacts only gravitationally with ordinary baryonic matter. Our results show that ultralight particles with masses 10^{-24.0} eV≲m≲10^{-23.3} eV cannot constitute 100% of the measured local dark matter density, but can have at most local density ρ≲0.3 GeV/cm^{3}.

2.
Genet Couns ; 17(1): 15-28, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-16719273

RESUMEN

Finding the diagnosis in children with mental retardation and a normal karyotype, whether or not associated with dysmorphic features, is important for defining an eventual syndrome and for genetic counselling of the families. Telomeric re-arrangements may be a common and underestimated-to-date cause of non-syndromic mental retardation. Using a FISH-based approach combining subtelomeric probes, we report the detection of 4 cases of cryptic translocations t(2;10)(p25.3;q26.3), t(4;17)(p16.2;q25), t(4;20)(p16.2;q13) and t(5;7)(p15.3;q36) associated with MR and dysmorphic features. We discuss the usefulness of subtelomeric FISH in children with unexplained delayed psychomotor development, when the genetic cause remains unknown and the karyotype is normal.


Asunto(s)
Discapacidad Intelectual/genética , Translocación Genética , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Adolescente , Adulto , Preescolar , Citogenética , Femenino , Asesoramiento Genético , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Discapacidad Intelectual/diagnóstico , Masculino , Linaje , Fenotipo , Embarazo , Telómero/genética
3.
J Forensic Sci ; 36(4): 1219-23, 1991 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-1919479

RESUMEN

After a rape, women who are pregnant often elect to abort the fetus. The authors describe ten cases in which deoxyribonucleic acid (DNA) typing was performed on the aborted fetal material to provide evidence of the genetic constitution of the suspect. The problems encountered with this new technique are discussed.


PIP: The feasibility of using DNA typing to identify the probable biological father of the fetus is rape cases was assessed in 10 abortuses, 4 abortions by vacuum aspiration and 6 by prostaglandin. In 2 cases chorionic villus material, and in 6 cases fetal material such as lung, blood, muscle or ribs was used, but in 2 mixed maternal and fetal tissue had to be used. DNA typing was performed by standard techniques using purchased DNA probes (Lifecodes Corp, Valhalla, New York). After visual inspection of matching alleles, results were verified by computer-assisted image analysis. A randomly selected French population of 300 constituted the reference database. In Case 1, maternal and fetal tissue was mixed, but a definite paternal band was evident. In 8 other cases there was strong evidence of paternal DNA bands. In the last case, a paternal band was apparent, but no suspect was available at the time.


Asunto(s)
Aborto Inducido , ADN/análisis , Feto/química , Paternidad , Violación , Vellosidades Coriónicas/química , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Embarazo , Probabilidad , Mapeo Restrictivo
4.
Rev Neurol (Paris) ; 142(5): 530-4, 1986.
Artículo en Francés | MEDLINE | ID: mdl-3787056

RESUMEN

A 32 year-old woman after voluntary intoxication with methanol presented, after coma with metabolic acidosis, a prolonged parkinsonian syndrome improved by L-dopa. Initial findings were areflexia and electromyographic signs of neurogenic atrophy of lower limbs. A moderate decrease in visual acuity was associated with altered visual evoked potentials indicating a global lesion of the optic tracts. CT scan during the first few days showed symmetrical low densities areas in the putaminal regions, which unchanged 18 months later. This case can be compared with the rare reported cases with extrapyramidal signs, EMG tracing evidence of peripheral neuropathy and analogous images on CT scanning. The clinical sequelae and CT scan imaging anomalies are the consequence of the characteristic lesions of methanol intoxication, in which the role played by circulatory disorders and that related to the action of the toxic substance itself on nerve cells remains a debatable subject.


Asunto(s)
Metanol/envenenamiento , Enfermedad de Parkinson Secundaria/inducido químicamente , Tomografía Computarizada por Rayos X , Adulto , Encéfalo/diagnóstico por imagen , Femenino , Humanos , Enfermedad de Parkinson Secundaria/diagnóstico por imagen , Putamen/diagnóstico por imagen
5.
Rev Neurol (Paris) ; 141(12): 806-9, 1985.
Artículo en Francés | MEDLINE | ID: mdl-3008295

RESUMEN

At the age of 6 years a patient developed disorders of character, intellectual deterioration, tremor, falls and epileptic seizures. This was followed by extrapyramidal and pyramidal disorders with a fatal outcome at age 21. There was no family history. Histopathology showed evidence of Hallervorden-Spatz disease, remarkable by the diffusion of spheroids into the central nervous system gray matter and by the presence of innumerable Lewy bodies in the substantia nigra and locus coeruleus. Similar findings have been reported in only 3 other cases of typical Hallervorden-Spatz disease. They suggest a preferential affection of monoaminergic neurons.


Asunto(s)
Enfermedades de los Ganglios Basales/patología , Cuerpos de Inclusión/patología , Neuronas/patología , Neurodegeneración Asociada a Pantotenato Quinasa/patología , Sustancia Negra/patología , Adolescente , Adulto , Axones/patología , Ganglios Basales/patología , Encéfalo/patología , Niño , Diagnóstico Diferencial , Globo Pálido/patología , Humanos , Cuerpos de Inclusión/ultraestructura , Hierro/análisis , Locus Coeruleus/patología , Masculino , Neuronas/ultraestructura , Neurodegeneración Asociada a Pantotenato Quinasa/diagnóstico
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