28 research outputs found
Skeptizismus und Irrglaube im Medizinhistorischen Kontext, unter besonderer Berücksichtigung des Endemischen Kretinismus
No full textIn der Geschichte der Heilkunst hatten bedeutsame Errungenschaften wiederholt eine lange Vorgeschichte, die von Misstrauen und Skepsis bis hin zu feindseliger Opposition gegenüber empirisch gefundener Verbesserung von Therapie und Prävention geprägt war. Am Beispiel des Endemischen Kretinismus, einer ehemals regional gehäuften, sehr schwerwiegenden körperlichen und geistigen Entwicklungsstörung, soll den Ursachen für eine derart lang anhaltende Ignoranz und Ablehnung gerade von herausragenden Innovationen nachgegangen werden. Vergleiche mit drei ausgewählten Erkrankungen, die ebenso ungewöhnlich lange auf Erfolgsnachrichten warten mussten, lassen ähnliche Muster hinsichtlich Voreingenommenheit und irrealen Überzeugungen vermuten. Einsicht in diese Abläufe könnte pro futuro mit verbesserter Aufklärung und Rücksichtnahme auf die Entscheidungsfreiheit der Patienten die Bereitstellung wirksamer Therapien erleichtern.eingereicht von Olaf RittingerQuellenverzeichnis: Blatt 125-131Masterarbeit Paris Lodron Universität Salzburg 2024Abstract in englischer und deutscher Sprach
Skeptizismus und Irrglaube im Medizinhistorischen Kontext, unter besonderer Berücksichtigung des Endemischen Kretinismus
No full textIn der Geschichte der Heilkunst hatten bedeutsame Errungenschaften wiederholt eine lange Vorgeschichte, die von Misstrauen und Skepsis bis hin zu feindseliger Opposition gegenüber empirisch gefundener Verbesserung von Therapie und Prävention geprägt war. Am Beispiel des Endemischen Kretinismus, einer ehemals regional gehäuften, sehr schwerwiegenden körperlichen und geistigen Entwicklungsstörung, soll den Ursachen für eine derart lang anhaltende Ignoranz und Ablehnung gerade von herausragenden Innovationen nachgegangen werden. Vergleiche mit drei ausgewählten Erkrankungen, die ebenso ungewöhnlich lange auf Erfolgsnachrichten warten mussten, lassen ähnliche Muster hinsichtlich Voreingenommenheit und irrealen Überzeugungen vermuten. Einsicht in diese Abläufe könnte pro futuro mit verbesserter Aufklärung und Rücksichtnahme auf die Entscheidungsfreiheit der Patienten die Bereitstellung wirksamer Therapien erleichtern.eingereicht von Olaf RittingerQuellenverzeichnis: Blatt 125-131Masterarbeit Paris Lodron Universität Salzburg 2024Abstract in englischer und deutscher Sprach
Aspects of energy requirements for rock drilling
No full textDevelopment of laboratory rock breakage techniques to relate energy and surface area produced by slow compression, drop hammer and stamp mill.
A detailed study of laboratory rotary-percussive
drilling in a wide range of rocks under different
conditions, with the collection of drill cuttings and
measurement of the drill parameters. The correlation
of drill parameters with rock indices by energy concepts
and the developed empirical formula.
Field rotary-percussive drilling studies and
collection of drill cuttings on the basis of laboratory
analysis
Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability
No full textTo explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated. Functional network analyses demonstrated that epigenetic regulation is a prominent biological process dysregulated in individuals with OGID. Mutations in six epigenetic regulation genes—NSD1, EZH2, DNMT3A, CHD8, HIST1H1E, and EED—accounted for 44% of individuals (311/710). There was significant overlap between the 14 genes involved in OGID and 611 genes in regions identified in GWASs to be associated with height (p = 6.84 × 10−8), suggesting that a common variation impacting function of genes involved in OGID influences height at a population level. Increased cellular growth is a hallmark of cancer and there was striking overlap between the genes involved in OGID and 260 somatically mutated cancer driver genes (p = 1.75 × 10−14). However, the mutation spectra of genes involved in OGID and cancer differ, suggesting complex genotype-phenotype relationships. These data reveal insights into the genetic control of human growth and demonstrate that exome sequencing in OGID has a high diagnostic yield
Impact of Female Leadership on Employee engagement in German small and medium-sized Family Companies
No full textDue to the demographic change, German small and medium-sized family companies lack skilled employees. As a high level of employee engagement (EE) can help retaining skilled employees, engaging leaders are needed. The aim of this thesis was to analyse, if women are able to have a positive impact on employee engagement due to their leadership style.
Qualitative theoretic information was gathered from academic literature. Latest professional journals and studies were used to give an insight in the current situation of employee engagement and leadership in small and medium-sized family companies. For the empirical part, a mixed approach, which is both qualitative and quantitative, was chosen and semi-structured interviews were conducted with female leaders in small and medium-sized family enterprises.
The result of this thesis was that female leaders can have a positive impact on EE as they tend to apply the transformational leadership style, which is similar to the leadership style that is needed to increase employee engagement. However, the author discovered that there are various important driving factors for employee engagement. As a result women that are just transformational leaders cannot keep up a high level of employee engagement
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
No full textOpitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MIDI, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MIDI gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X-linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion
No full textCutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature
No full textMetopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
No full textGreig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal synostosis. None had a family history of similar features. In all five children, the diagnosis of GCPS was confirmed by molecular analysis of GLI3 (two had intragenic mutations and three had complete gene deletions detected on array comparative genomic hybridisation), thus highlighting the importance of trigonocephaly or overt metopic or sagittal synostosis as a distinct presenting feature of GCPS. These observations confirm and extend a recently proposed association of intragenic GLI3 mutations with metopic synostosis; moreover, the three individuals with complete deletion of GLI3 were previously considered to have Carpenter syndrome, highlighting an important source of diagnostic confusion
