The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding L-3-hydroxyacyl-CoA dehydrogenase II displayed a sequence alteration (c.574 C-->A; p.R192R) in all patients and carrier females that was absent in unaffected male family members and could not be found in 2,500 control X chromosomes, including in those of 500 healthy males. The silent C-->A substitution is located in exon 5 and was shown by western blot to reduce the amount of HADH2 protein by 60%-70% in the patient. Quantitative in vivo and in vitro expression studies revealed a ratio of splicing transcript amounts different from those normally seen in controls. Apparently, the reduced expression of the wild-type fragment, which results in the decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, is pathogenic. Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.

Continuous Recording of Retardation and Intensity of Echoes from the Ionosphere

Pulse retardation method of Breit and Tuve has been modified to record continuously the equivalent height as well as the intensity of reflections from the ionosphere. Synchronized pulses are transmitted, and the received ground pulse and the reflected pulses, after amplification and suitable distortion, are applied to the focusing cylinder of a cathode ray tube the horizontal deflecting plates of which are connected to a synchronized linear time base circuit. The pattern on the screen is composed of a bright straight line corresponding to the time base with dark gaps corresponding to the received pulses. The distance between the initial points of the gaps represents retardation while the widths of the gaps correspond to the intensity of the pulses. The pattern is photographed on a vertically moving film. One of the first few records taken at Bangalore on 4 megacycles is reproduced. It shows, among other things, that the less retarded component of magneto-ionic splitting from the F layer is present most of the time. Whenever the longer retardation component does occur, it has stronger intensity than the former. Towards the late evening hours, just before disappearing, when the F layer rises and exhibits magnetoionic splitting, the intensity of the less retarded component is extremely low compared with the other component.

Calibration method for a photoelastic modulator with a peak retardation of less than a half-wavelength

A new calibration method for a photoelastic modulator is proposed. The calibration includes a coarse calibration and a fine calibration. In the coarse calibration, the peak retardation of the photoelastic modulator is set near 1.841 rad. In the fine calibration, the value of the zeroth Bessel function is obtained. The zeroth Bessel function is approximated as a linear equation to directly calculate the peak retardation. In experiments, the usefulness of the calibration method is verified and the calibration error is less than 0.014 rad. The calibration is immune to the intensity fluctuation of the light source and independent of the circuit parameters. The method specially suits the calibration of a photoelastic modulator with a peak retardation of less than a half-wavelength. (c) 2007 Optical Society of America.

Acquiescence in interviews with people who have mental retardation

Evidence for acquiescence (yea-saying) in interviews with people who have mental retardation is reviewed and the different ways it has been assessed are discussed. We argue that acquiescence is caused by many factors, each of which is detected differentially by these methods. Evidence on the likely causes of acquiescence is reviewed, and we suggest that although researchers often stress a desire to please or increased submissiveness as the must important factor, acquiescence should also be seen as a response to questions that are too complex, either grammatically or in the type of judgments they request. Strategies to reduce acquiescence in interviews are reviewed and measures that can be taken to increase the inclusiveness of interviews and self-report scales in this population suggested.

Retardation effects in ion-ion collisons [collisions]

The modification of the two center screened electronic Coulomb potential due to relativistic kinematical effects is investigated in the Coulomb gauge. Both nuclear and electronic charges were approximated by Gaussian distributions. For ion velocities v/c =0.1 the effect may roughly be approximated by a 0.1% increase in the effective strength for the monopole term of the two center potential. Thus for ion kinetic energies not exceeding a few MeV/nucleon this relativistic contribution induces small effects on the binding energy of the 1 \omega-electrons except for super critical charges.

La nueva propuesta de conceptualizaci??n del retraso mental de la American Association on Mental Retardation : reflexiones acerca de la inteligencia y la conducta adaptativa

Resumen tomado de la publicaci??n

Los retrasados mentales frente a la opinión pública : Mental Retardation Project.

La Unión Internacional de Protección de la Infancia, UIPE, tiene entre sus objetivos principales, atender las necesidades de los niños con algún tipo de minusvalía mental. Su relación con la ONU ha sido estrecha, hasta el punto de haber logrado que ésta incluya en sus asuntos oficiales la cuestión de los derechos de los niños con minusvalías mentales. Dentro de la UIPE se ha creado el Mental Retardation Project, del que se encargan especialistas. Se han visitado varios países americanos y europeos durante 1964 y 1965, entre ellos España, con el fin de conocer in situ la situación de niños aquejados de alguna deficiencia mental y asesorar a familias, asociaciones, estimular las consultas, y fomentar la colaboración entre FISE, OMS y UNESCO, para lograr en lo posible el objetivo final de la rehabilitación de estas personas. Para concluir se realiza un análisis acerca de la visión predominante en la sociedad sobre los deficientes mentales, y de los factores sociales que influyen en la consideración pública de retrasado.

Deletion 5q12: Delineation of a Phenotype Including Mental Retardation and Ocular Defects

Array-CGH enables the detection of submicroscopic chromosomal deletions and duplications and leads to an accurate delineation of the imbalances, raising the possibility of correlating genotype to phenotype and mapping minimal critical regions associated with particular patterns of clinical features. We report here on four patients sharing common clinical features (psychomotor retardation, coarse facies and ocular anomalies), with proximal 5q deletions identified by oligo array-CGH. The deletions range from 5.75 to 17.26-Mb in size and occurred de novo. A common 2.63-Mb region between the deletions described here can be defined in 5q12.1 (59,390,122-62,021,754 bp bp from 5pter, hg18) and includes 12 genes. Among them, KIF2A, which encodes a kinesin superfamily protein, is a particularly interesting candidate for the phenotype, as it suppresses the growth of axonal collateral branches and is involved in normal brain development. Ocular defects, albeit unspecific, seem to be common in the 5q12.1 deletion. Identification of additional cases of deletions involving the 5q12.1 region will allow more accurate genotype-phenotype correlations. (C) 2011 Wiley-Liss, Inc.