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Search Results: 1 - 10 of 154797 matches for " Adelheid H?ller "
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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid Hller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Chancen einer Gleichstellung im Frühmittelalter? - Sozialgeschichtliche Implikationen normativer Texte aus dem langobardischen Italien und aus dem bayerischen Rechtsbereich
Adelheid Krah
Forum Historiae Iuris , 2002,
Abstract:
MEJORAS DE ACCESIBILIDAD VIARIA: UN ESTUDIO RETROSPECTIVO PARA LA ESPA A PENINSULAR
Adelheid Holl
Papeles de Geografía , 2011,
Abstract: Desde los a os ochenta, se ha incrementado considerablemente la red de autovías y autopistas en Espa a. Esta investigación presenta un análisis de las mejoras en accesibilidad que los programas de construcción de vías rápidas de gran capacidad han generado. Se calculan dos indicadores de accesibilidad a nivel municipal para toda la península espa ola y para el periodo de 1980-2005: acceso a autovías y autopistas interregionales y potencial de mercado. La distancia media de los municipios a la autovía o autopista mas cercana se ha reducido considerablemente. En general, la accesibilidad ha mejorado en todo el país, pero no todas las zonas se han beneficiado al mismo nivel.
Kreativit t in der psychosozialen Online-Beratung
Adelheid Primus
E-Beratungsjournal , 2007,
Abstract: In der vorliegenden Arbeit werden kreative Ausdrucksformen in der Online-Beratung heraus-gegriffen und Beispiele angeführt. Dabei werden sowohl einige kreativtherapeutische Methoden, wie die Poesie- und Bibliotherapie, als auch in der Online-Beratung anwendbare literarische Gattungen beschrieben. So k nnen Beraterinnen und Berater kreativ auf Anfragetexte antworten, indem sie etwa ein "Elfchen" verfassen oder einen Perspektivenwechsel vornehmen. Von Kreativtherapie sprechen wir jedoch erst dann, wenn die oder der Ratsuchende dazu ermuntert wird, eine kreative Methode anzuwenden. Hier eignen sich autobiografische Selbstreflexionen oder aber auch Gedichte.
Biochip-Based Detection of KRAS Mutation in Non-Small Cell Lung Cancer
Gernot Kriegsh?user,Gerhild Fabjani,Barbara Ziegler,Sabine Z?chbauer-Müller,Adelheid End,Robert Zeillinger
International Journal of Molecular Sciences , 2011, DOI: 10.3390/ijms12128530
Abstract: This study is aimed at evaluating the potential of a biochip assay to sensitively detect KRAS mutation in DNA from non-small cell lung cancer (NSCLC) tissue samples. The assay covers 10 mutations in codons 12 and 13 of the KRAS gene, and is based on mutant-enriched PCR followed by reverse-hybridization of biotinylated amplification products to an array of sequence-specific probes immobilized on the tip of a rectangular plastic stick (biochip). Biochip hybridization identified 17 (21%) samples to carry a KRAS mutation of which 16 (33%) were adenocarcinomas and 1 (3%) was a squamous cell carcinoma. All mutations were confirmed by DNA sequencing. Using 10 ng of starting DNA, the biochip assay demonstrated a detection limit of 1% mutant sequence in a background of wild-type DNA. Our results suggest that the biochip assay is a sensitive alternative to protocols currently in use for KRAS mutation testing on limited quantity samples.
Antioxidant Constituents of Cotoneaster melanocarpus Lodd.
Veronika M. D. Holzer,Agnieszka D. Lower-Nedza,Myagmar Nandintsetseg,Javzan Batkhuu,Adelheid H. Brantner
Antioxidants , 2013, DOI: 10.3390/antiox2040265
Abstract: The aim of this study was the evaluation of the antioxidant capacity of Cotoneaster melanocarpus Lodd. and the identification of antioxidant active constituents of this plant. C. melanocarpus Lodd. is a shrub indigenous to Mongolia and used in Traditional Mongolian Medicine as a styptic. Before extraction, the plant material was separated into three parts: young sterile shoots, older stems and leaves. All these parts were extracted with water, methanol, ethyl acetate, dichloromethane and hexane, successively. The methanolic extract of the sterile shoots showed the highest antioxidant activity in the DPPH (2,2-diphenyl-1-picrylhydrazyl) radical scavenging assay (IC 50 30.91 ± 2.97 μg/mL). This active extract was further analyzed with chromatographic methods. TLC fingerprinting and HPLC indicated the presence of the flavonol glycosides quercetin-3- O-rutinoside (rutin), quercetin-3- O-galactoside (hyperoside) and quercetin-3- O-glucoside (isoquercetin), ursolic acid as well as chlorogenic acid, neochlorogenic acid and cryptochlorogenic acid. The findings were substantiated with LC-MS. All identified compounds have antioxidant properties and therefore contribute to the radical scavenging activity of the whole plant.
Structuration theory: open the black box of integrated care
Adelheid Susanne Esslinger
International Journal of Integrated Care , 2009,
Abstract:
Gerechtigkeit und Verteilungswirkungen der Gesundheitsreform 2007
Ivonne Honekamp,Adelheid Rehmann
Zeitschrift für Nachwuchswissenschaftler , 2009,
Abstract: Mit der Diskussion von Gesundheitsreformen stellt sich immer wieder die Frage, ob durch die vorgeschlagenen Ver nderungen die Gerechtigkeit der Finanzierung von Gesundheitsleistungen gew hrleistet werden kann. In diesem Beitrag wird die Deutsche Gesundheitsreform, welche im Jahre 2007 in Kraft trat, im Hinblick auf ihre Finanzierungsgerechtigkeit analysiert. Dazu werden mit Hilfe der Gerechtigkeitstheorien von Rawls und Nozick Ma st be zur Einordnung der Finanzierungsinstrumente in ein Gerechtigkeitskonstrukt erarbeitet. Diese Ma st be sind gekennzeichnet durch eine Unterscheidung zwischen Leistungs- und Bedarfsprinzip und dem Ausma der Umverteilung der einzelnen Finanzierungsinstrumente. Im Ergebnis l sst sich feststellen, dass die Gesundheitsreform weder im Sinne von Rawls noch von Nozicks Gerechtigkeitsvorstellungen zu einer Abnahme der Finanzierungsgerechtigkeit geführt hat.
Acetylcholinesterase Inhibitory, Antioxidant and Phytochemical Properties of Selected Medicinal Plants of the Lamiaceae Family
Sanda Vladimir-Kne?evi?,Biljana Bla?ekovi?,Marija Kindl,Jelena Vladi?,Agnieszka D. Lower-Nedza,Adelheid H. Brantner
Molecules , 2014, DOI: 10.3390/molecules19010767
Abstract: The present study aimed to evaluate acetylcholinesterase (AChE) inhibitory and antioxidant activities of Lamiaceae medicinal plants growing wild in Croatia. Using Ellman’s colorimetric assay all tested ethanolic extracts and their hydroxycinnamic acid constituents demonstrated in vitro AChE inhibitory properties in a dose dependent manner. The extracts of Mentha x piperita, M. longifolia, Salvia officinalis, Satureja montana, Teucrium arduini, T. chamaedrys, T. montanum, T. polium and Thymus vulgaris at 1 mg/mL showed strong inhibitory activity against AChE. The antioxidant potential of the investigated Lamiaceae species was assessed by DPPH ? scavenging activity and total antioxidant capacity assays, in comparison with hydroxycinnamic acids and trolox. The extracts differed greatly in their total hydroxycinnamic derivatives content, determined spectrophotometrically. Rosmarinic acid was found to be the predominant constituent in most of the investigated medicinal plants (by RP-HPLC) and had a substantial influence on their AChE inhibitory and antioxidant properties, with the exception of Teucrium species. These findings indicate that Lamiaceae species are a rich source of various natural AChE inhibitors and antioxidants that could be useful in the prevention and treatment of Alzheimer’s and other related diseases.
Fractal Scaling Models of Natural Oscillations in Chain Systems and the Mass Distribution of the Celestial Bodies in the Solar System
ller H.
Progress in Physics , 2010,
Abstract: The present paper interprets matter as a chain system of quantum harmonic oscillators. A fractal spectral model of resonant oscillations in chain systems of protons generates a scaling mass spectrum, that reproduces the mass distribution of the celestial bodies in the Solar System.
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