Xp22.33p22.13 Duplication in a Male Patient Carrying a Recombinant X Chromosome Derived from an Inherited Intrachromosomal Insertion.

Intrachromosomal insertions are complex structural rearrangements that are challenging to interpret using classical cytogenetic methods. We report a male patient carrying a recombinant X chromosome derived from a maternally inherited intrachromosomal insertion. The patient exhibited developmental delay, intellectual disability, behavioral disorder, and dysmorphic facial features. To accurately identify the rearrangements in the abnormal X chromosome, additional cytogenetic studies were conducted, including fluorescence in situ hybridization (FISH), multicolor-banding FISH, and array comparative genomic hybridization. The results showed a recombinant X chromosome, resulting in a 13.05 Mb interstitial duplication of segment Xp22.33-Xp22.13, which was inserted at cytoband Xq26.1. The duplicated region encompasses 99 genes, some of which are associated with the patient's clinical manifestations. We propose that the combined effects of the Xp-duplicated genes may contribute to the patient's phenotype.

Visual, cognitive, and language assessments at 39 months: a follow-up study of children fed formulas containing long-chain polyunsaturated fatty acids to 1 year of age

Objective. Docosahexaenoic acid (DHA)and arachidonic acid (ARA) are long-chain polyunsaturated fatty acids found in breast milk and recently added to infant formulas...

'Transient' genetic suppression facilitates generation of hexose transporter null mutants in Leishmania mexicana.

The genome of Leishmania mexicana encompasses a cluster of three glucose transporter genes designated LmxGT1, LmxGT2 and LmxGT3. Functional and genetic studies of a cluster null mutant (Δlmxgt1-3) have dissected the roles of these proteins in Leishmania metabolism and virulence. However, null mutants were recovered at very low frequency, and comparative genome hybridizations revealed that Δlmxgt1-3 mutants contained a linear extrachromosomal 40 kb amplification of a region on chromosome 29 not amplified in wild type parasites. These data suggested a model where this 29-40k amplicon encoded a second site suppressor contributing to parasite survival in the absence of GT1-3 function. To test this, we quantified the frequency of recovery of knockouts in the presence of individual overexpressed open reading frames covering the 29-40k amplicon. The data mapped the suppressor activity to PIFTC3, encoding a component of the intraflagellar transport pathway. We discuss possible models by which PIFTC3 might act to facilitate loss of GTs specifically. Surprisingly, by plasmid segregation we showed that continued PIFTC3 overexpression was not required for Δlmxgt1-3 viability. These studies provide the first evidence that genetic suppression can occur by providing critical biological functions transiently. This novel form of genetic suppression may extend to other genes, pathways and organisms.

Direct evidence of 1,900 years of indigenous silver production in the Lake Titicaca Basin of Southern Peru.

Archaeological excavations at a U-shaped pyramid in the northern Lake Titicaca Basin of Peru have documented a continuous 5-m-deep stratigraphic sequence of metalworking remains. The sequence begins in the first millennium AD and ends in the Spanish Colonial period ca. AD 1600. The earliest dates associated with silver production are 1960 + or - 40 BP (2-sigma cal. 40 BC to AD 120) and 1870 + or - 40 BP (2-sigma cal. AD 60 to 240) representing the oldest known silver smelting in South America. Scanning electron microscopy (SEM) and energy dispersive spectroscopy (EDS) analysis of production debris indicate a complex, multistage, high temperature technology for producing silver throughout the archaeological sequence. These data hold significant theoretical implications including the following: (i) silver production occurred before the development of the first southern Andean state of Tiwanaku, (ii) the location and process of silverworking remained consistent for 1,500 years even though political control of the area cycled between expansionist states and smaller chiefly polities, and (iii) that U-shaped structures were the location of ceremonial, residential, and industrial activities.

Prevention of intraventricular hemorrhage by indomethacin in male preterm infants.

Our multicenter Indomethacin Intraventricular Hemorrhage (IVH) Prevention Trial demonstrated a reduction of IVH in preterm infants. Analysis of our cohort by sex showed indomethacin halved the incidence of IVH, eliminated parenchymal hemorrhage, and was associated with higher verbal scores at 3 to 8 years in boys.

Structural insights into the beta-mannosidase from T. reesei obtained by synchrotron small-angle X-ray solution scattering enhanced by X-ray crystallography.

A molecular envelope of the beta-mannosidase from Trichoderma reesei has been obtained by combined use of solution small-angle X-ray scattering (SAXS) and protein crystallography. Crystallographic data at 4 A resolution have been used to enhance informational content of the SAXS data and to obtain an independent, more detailed protein shape. The phased molecular replacement technique using a low resolution SAXS model, building, and refinement of a free atom model has been employed successfully. The SAXS and crystallographic free atom models exhibit a similar globular form and were used to assess available crystallographic models of glycosyl hydrolases. The structure of the beta-galactosidase, a member of a family 2, clan GHA glycosyl hydrolases, shows an excellent fit to the experimental molecular envelope and distance distribution function of the beta-mannosidase, indicating gross similarities in their three-dimensional structures. The secondary structure of beta-mannosidase quantified by circular dichroism measurements is in a good agreement with that of beta-galactosidase. We show that a comparison of distance distribution functions in combination with 1D and 2D sequence alignment techniques was able to restrict the number of possible structurally homologous proteins. The method could be applied as a general method in structural genomics and related fields once protein solution scattering data are available.

Absceso pulmonar en niños

La importancia del absceso pulmonar en niños ha disminuido ostensiblemente desde el advenimiento de los antibióticos. A pesar de ello, en grupos especiales de pacientes en un problema relativamente frecuente e importante por sus potenciales complicaciones y secuelas. Los abordajes de la patología en la literatura son infrecuentes y se trata en general de series retrospectivas con datos epidemiológicos incompletos. El tratamiento de elección es terapeútica antibiótica conservadora de larga duración. Las técnicas de aspiración percutáneas mínimamente invasivas han relegado los abordajes quirúrgicos. Sólo la presencia de abscesos grandes y con la inminencia de ruptura y estados toxoinfeciosos severos obligarían a intervenciones invasivas tempranas. El pronóstico global del absceso pulmonar primario es excelente cuando el tratamiento adecuado es instaurado oportunamente

Dolor de hombro: la tendinopatía del manguito de los rotadores

El complejo de tendones y músculos situados alrededor del hombro y conocido como el "manguito rotador" o también, "manguito de los rotadores", suele sufrir lesiones como consecuencia de trauma, ejercicio fuerte y repetido, o más frecuentemente por varios factores al mismo tiempo. Las nuevas técnicas de imágenes facilidan el diagnóstico de estos problemas, pero siguen siendo indispensables la historia clínica detallada y el cuidadoso examen físico del enfermo, para precisar la situación y ordenar el tratamiento más apropiado

Casi-Ahogamiento en niños de Cartagena, 1994-1995

En un estudio retrospectivo revisamos 49 casos de ahogamiento en niños presentados en la ciudad y playas de Cartagena entre Enero de 1994 y Diciembre de 1995. Evaluamos por un lado el perfil epidemiológico de la población afectada y por el otro el tratamiento de emergencia administrado a los pacientes. Se presentaron 49 casos en un periodo de 24 meses lo que significa un paciente cada 2 semanas. la edad promedio fue de 7.9 años, siendo el grupo escolar el más afectado; destacamos sin embargo la presencia de 9 pacientes por debajo de 2 años de edad. Aunque Cartagena es un importante centro centro turistico, alrededor de tres cuartas partes de los pacientes eran habitantes de la ciudad. En relación con el tratamiento encontramos una utilización frecuentemente inadecuada de antibioticos, diureticos y corticoides. La incidencia de casi ahogamiento en la población de Cartagena es alta, constituyendose en un problema de salud pública. Las medidas preventivas deben ser mejoradas para evitar esta clase de accidentes

Demanda, dependencia y negación / Demands, dependency and

Estudio en el cual se analiza las razones, causas, efectos, consumo y comercialización del abuso de las drogas en Estados Unidos de Norteamérica. El artículo describe desde la perspectiva psicodinámica que las causas son más internas que externas y que hay que verlas como un problema que tiene incidencia con el tipo y la naturaleza de las fuerzas que suscitan en el individuo la necesidad compulsiva de la droga, tales como ansiedad, depresión, desorientación, por "inflar" la empobrecida autoestima, etc. Describe cómo el Gobierno de los Estados Unidos gasta anualmente 100,000 millones de dólares para contrarrestar tal consumo, pero no han logrado capturar más del cinco por ciento del total de las importaciones de drogas; mientras tanto la demanda global sigue creciendo. Encuestas revelan que uno de cada 10 adolescentes y/o adultos probó cocaína en el último año y que uno de cada veinte es usuario regular. Explica la importancia capital que tiene la crianza de un niño en un medio familiar confiable y relativamente seguro, así como que el establecimiento de una imagen interna positiva y confiable son factores importantes para el desarrollo de la personalidad del niño

Physiological adaptation: the test of nutrition

Meeting of the Advisory Committee on Medical Research, 9. Pan American Health Organization; 15-19 Jun. 1970