8,476 research outputs found
Gamow-Teller properties of the double beta-decay partners 116Cd(Sn) and 150Nd(Sm)
The two Gamow-Teller (GT) branches connecting the double-beta decay partners
(116Cd, 116Sn) and (150Nd, 150Sm) with the intermediate nuclei 116In and 150Pm
are studied within a microscopic approach based on a deformed proton-neutron
quasiparticle random-phase approximation built on a Skyrme selfconsistent mean
field with pairing correlations and spin-isospin residual forces. The results
are compared with the experimental GT strength distributions extracted from
charge-exchange reactions. Combining the two branches, the nuclear matrix
elements for the two-neutrino double-beta decay are evaluated and compared to
experimental values derived from the measured half-lives.Comment: 10 pages, 16 figure
Primary Coenzyme Q10 Deficiency
open4siCLINICAL CHARACTERISTICS:
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
DIAGNOSIS/TESTING:
The diagnosis of primary CoQ10 deficiency in a proband is established by identification of biallelic pathogenic variants in one of the nine genes encoding proteins directly involved in the synthesis of coenzyme Q10 or by detection of reduced levels of CoQ10 (ubiquinone) in skeletal muscle or reduced activities of complex I+III and II+III of the mitochondrial respiratory chain on frozen muscle homogenates.
MANAGEMENT:
Treatment of manifestations: In individuals with primary CoQ10 deficiency early treatment with high-dose oral CoQ10 supplementation (ranging from 5 to 50 mg/kg/day) can limit disease progression and reverse some manifestations; however, established severe neurologic and/or renal damage cannot be reversed. ACE inhibitors may be used in combination with CoQ10 supplementation in persons with proteinuria; renal transplantation is an option for those with ESRD. Treatment of hypertrophic cardiomyopathy, retinopathy, and sensorineural hearing loss is per usual practice. Prevention of primary manifestations: Supplementation with high-dose oral CoQ10 can prevent progression of the renal disease and onset of neurologic manifestations. Surveillance: Periodic neurologic evaluation, urine analysis (for proteinuria) and renal function tests, ophthalmologic evaluation, and audiometry. Evaluation of relatives at risk: Presymptomatic diagnosis for the purpose of early treatment with CoQ10 supplementation is warranted for relatives at risk.
GENETIC COUNSELING:
Primary coenzyme Q10 deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic diagnosis are possible if the pathogenic variants in a family are known.openSalviati, L; Trevisson, E; Doimo, M; Navas, PSalviati, Leonardo; Trevisson, Eva; Doimo, Mara; Navas, P
Evaluación de la evidencia del tratamiento de las lesiones del ligamento cruzado anterior de la rodilla
Introducción: El aumento de la accidentalidad deportiva y viaria ha dado origen a un incremento de las lesiones de rodilla y en particular del ligamento cruzado anterior. La presencia de inestabilidades residuales, los cambios degenerativos de la articulación y las lesiones secundarias, han sido invocadas como razones para justificar una actitud intervencionista. No obstante, la incompleta consecución de los objetivos propuestos ha llevado a que la opción conservadora se siga manteniendo vigente. Objetivos: Analizar la evidencia científica existente en el cuerpo bibliográfico que aborda el tratamiento de las lesiones del LCA de la rodilla. Establecer si se cumplen las motivaciones que inducen la elección del tratamiento, en sus posibilidades quirúrgica o conservadora. Concluir una guía de recomendaciones a la hora de enfocar el tratamiento de estas lesiones. Material y Métodos: Se analiza la evidencia científica existente en la literatura encontrada sobre este tema. Se plantea la realización de un metaanálisis con los resultados aportados por otros autores en estudios seleccionados. Éstos deberán responder a unos criterios de estudios comparativos entre tratamiento quirúrgico y conservador con exigencias de ser estudios prospectivos y aleatorizados, con un seguimiento mínimo de siete años y que tuvieran en cuenta análisis de resultados en los que se incluyeran criterios objetivos, así como consideración de la evaluación subjetiva en cuanto a la satisfacción del enfermo. Resultados: No se ha encontrado ningún estudio que se ajustara exactamente a la propuesta realizada. Si que se han hallado dos trabajos secuenciales, de una evolución más corta de la exigida y en el que la comparación se hacía entre tres tratamientos de las lesiones del ligamento cruzado anterior, si bien ninguno de ellos era una opción totalmente conservadora y además empleaban unas técnicas de reconstrucción que en la actualidad tienen muy pocos seguidores dentro de los que defienden la opción quirúrgica, como es la sutura primaria del ligamento cruzado anterior deteriorado. Conclusiones: La opción que deja menos inestabilidad residual es la realización de sutura directa del LCA acompañada de plastia de apoyo periférica. No obstante, no se encuentra un resultado final con rodillas totalmente estables. También son independientes del tratamiento recibido la reincorporación a actividades deportivas previas, así como la aparición de lesiones estructurales secundarias en la rodilla. Debido a la falta de cumplimentación de las exigencias de evaluación y a la falta de adecuación de las técnicas analizadas, no se puede concluir una guía de recomendación.Introduction. The increase in the sport activities and
the traffic accidentability has raised an increase of the injuries
of the knee and more precisely of the anterior cruciate ligament. The residual instability, the degenerative changes in the
joint and the secondary lesions have been invocated as reasons to justify a surgical approach. But, the incomplete consecution of the aims of this treatment has provoked that the conservative option is still in use. Aims: To analyze the scientific
evidence in the bibliography for the treatment of the lesions of
the knee ACL, to establish if the aims of the treatment are observed in the conservative and surgical options and to conclude with a recommended guide to face these injuries. Material
and methods: It is analized the scientific evidence in the reviewed literature in this topic. It is projected a metanalysis with
the integrated bibliography for the selected papers. This should
assure the criteria of being comparative between the conservative and surgical treatment and should be prospective and
randomized, with a minimum follow-up of seven years and taking into account an analysis of the results with objective criteria, as well as an evaluation of the subjective satisfaction of
the patient. Results: No papers have been found that properly
fit for the exigencies of the design. Two sequential papers have
been selected with a shorter follow-up and with a comparison
between three different treatments, none of them being a complete conservative treatment. The proposed surgical technique, the suture of the disrupted ACL, is not any more among the
preferred by the surgeons. Conclusions: The option with less
residual instability is the direct suture with a peripheral plastia.
But, they do not provide an absolute stable knee. The reincorporations to the sport activities, as well as the secondary structural lesions are independent to the treatment. Because of the
lack of complementation of the exigencies of the evaluation
and the lack of adequacy of the proposed surgical techniques,
it is not possible to recommend a practical guide
Epidemiología de las fracturas de perfil osteoporótico
Las fracturas osteoporóticas de cadera van acompañadas de una morbimortalidad altas. Entre los factores de riesgo de padecer una fractura de este tipo se encuentra el haber sufrido otra fractura de este tipo con anterioridad.
Objetivo: conocer las características epidemiológicas de los pacientes con fractura de perfil osteoporótico en el área sanitaria dependiente del Hospital "Virgen de la Victoria" de Málaga.
Pacientes y métodos: se incluyen a las mujeres que han sufrido una fractura de tipo osteoporótico en cualquier localización anatómica.
Estudio de tipo indagatorio estadístico. Se utiliza a base de datos del programa GIOS (MSD®), en la que se recogen características antropomórficas de las pacientes, así como los hábitos, factores de riesgo y toma de medicación previa
Search for charginos, neutralinos, and gravitinos at LEP
The hep-ex data base was decided not to be an appropriate place to make
DELPHI notes public. Sorry for the inconvenience.Comment: the paper should not have been made publi
Dynamic consolidation problems in saturated soils solved through u-w formulation in a LME meshfree framework
A meshfree numerical model, based on the principle of Local Maximum Entropy (LME), including a B-bar algorithm to avoid instabilities, is applied to solve axisymmetric consolidation problems in elastic saturated soils. This
numerical scheme has been previously validated for purely elastic problems without water (mono phase), as well as for steady seepage in elastic porous media. Hereinafter, an implementation of the novel numerical method in the
axisymmetric configuration is proposed, and the model is validated for well known theoretical problems of consolidation in saturated soils, under both static and dynamic conditions with available analytical solutions. The solutions obtained with the new methodology are compared with a finite element commercial software for a set of examples. After validated, solutions for dynamic
radial consolidation and sinks, which have not been found elsewhere in the literature, are presented as a novelty. This new numerical approach is demonstrated to be feasible for this kind of problems in porous media,
particularly for high frequency, dynamic problems, for which very few results have been found in the literature in spite of their high practical importance
Single mechanosensitive and ca(2+)-sensitive channel currents recorded from mouse and human embryonic stem cells
Cell-attached and inside-out patch clamp recording was used to compare the functional expression of membrane ion channels in mouse and human embryonic stem cells (ESCs). Both ESCs express mechanosensitive Ca(2+) permeant cation channels (MscCa) and large conductance (200 pS) Ca(2+)-sensitive K(+) (BK(Ca2+)) channels but with markedly different patch densities. MscCa is expressed at higher density in mESCs compared with hESCs (70 % vs. 3 % of patches), whereas the BK(Ca2+) channel is more highly expressed in hESCs compared with mESCs (~50 % vs. 1 % of patches). ESCs of both species express a smaller conductance (25 pS) nonselective cation channel that is activated upon inside-out patch formation but is neither mechanosensitive nor strictly Ca(2+)-dependent. The finding that mouse and human ESCs express different channels that sense membrane tension and intracellular [Ca(2+)] may contribute to their different patterns of growth and differentiation in response to mechanical and chemical cues.OH was supported by a travel/stay Grant from
Ministerio de Educación y Ciencia (SAB2006-0211) and in the United States by grants from the National Cancer Institute and the Department of Defense. BS and AH are supported by the Fundación Progreso y Salud, Consejería de Salud, Junta de Andalucía (PI-0022/
2008); Consejería de Innovación Ciencia y Empresa, Junta de Andalucía
(CTS-6505; INP-2011-1615-900000); FEDER cofunded grants
from Instituto de Salud Carlos III (Red TerCel-RD06/0010/0025;
PI10/00964), and the Ministry of Health and Consumer Affairs
(Advanced Therapies Program TRA-120). CIBERDEM is an initiative of the Instituto de Salud Carlos III.Peer Reviewe
La prótesis de expansión de Giannini en el tratamiento del pie plano-laxo infantil
Presentamos una serie de 50 pies plano-laxo infantil intervenidos con la prótesis
de expansión de Giannini entre los años 1989 y 1992. Para evaluar la corrección obtenida se ha
tenido en cuenta la morfología y sintomatología del pie, la valoración del fotopodograma y el ángulo
de Moreau-Costa-Bartani y la línea de Sheade o eje de Meary-Tomeno en el estudio radiográfico.
En la valoración final de resultados constatamos 14 casos (28%) excelentes, 31 (62%) buenos,
2 (4%) regulares y 3 (6%) malos.The authors present their experience in the surgical treatment of 50 essencial valgus
fíat feet, performed bctween 1989 and 1992, using Giannini's subtalar expansive prosthesis.
Pacients were assessed clinically, radiologically and by photopodography for the Moreau-CostaBartani
angle and the Sheade line or Meary-Tomeno axis. In the final evaluation 14 cases (28%)
were judged to achieved excellent results, 31 (62%) good results, 2 (4%) fair results and 3 (6%)
poor result
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