Refine
Year of publication
Has Fulltext
- yes (12)
Is part of the Bibliography
- no (12)
Keywords
- Lewald, Fanny (2)
- Schriftstellerin (2)
- Ausstellungskatalog (1)
- Birch-Pfeiffer, Charlotte (1)
- Brain tumors (1)
- Brief (1)
- CVID (1)
- Cancer (1)
- Children and adolescents (1)
- European Society for Immunodeficiencies (ESID) (1)
Institute
- Medizin (4)
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related modular calcium binding 1) in eight unrelated families. Four of these mutations are nonsense, two frame-shift, and two missense. The missense mutations are both in the second Thyroglobulin Type-1 (Tg1) domain of the protein. The orthologous gene in the mouse, Smoc1, shows site- and stage-specific expression during eye, limb, craniofacial, and somite development. We also report a targeted pre-conditional gene-trap mutation of Smoc1 (Smoc1tm1a) that reduces mRNA to ~10% of wild-type levels. This gene-trap results in highly penetrant hindlimb post-axial oligosyndactyly in homozygous mutant animals (Smoc1tm1a/tm1a). Eye malformations, most commonly coloboma, and cleft palate occur in a significant proportion of Smoc1tm1a/tm1a embryos and pups. Thus partial loss of Smoc-1 results in a convincing phenocopy of the human disease. SMOC-1 is one of the two mammalian paralogs of Drosophila Pentagone, an inhibitor of decapentaplegic. The orthologous gene in Xenopus laevis, Smoc-1, also functions as a Bone Morphogenic Protein (BMP) antagonist in early embryogenesis. Loss of BMP antagonism during mammalian development provides a plausible explanation for both the limb and eye phenotype in humans and mice.
[Rezension zu:] Vanessa van Ornam: Fanny Lewald And Nineteenth-Century Constructions of Feminity
(2004)
Rezension zu: Vanessa van Ornam: Fanny Lewald And Nineteenth-Century Constructions of Feminity. New York, Washington, D.C./Baltimore, Bern, Frankfurt am Main, Berlin, Brüssel, Wien, Oxford: Peter Lang, 2002 (North American Studies in Nineteenth-Century German Literature, hrsg. v. Jeffrey L. Sammons, Bd. 29).
Background: About 2000 children and adolescents under the age of 18 are diagnosed with cancer each year in Germany. Because of current medical treatment methods, a high survival rate can be reached for many types of the disease. Nevertheless, patients face a number of long-term effects related to the treatment. As a result, physical and psychological consequences have increasingly become the focus of research in recent years. Social dimensions of health have received little attention in health services research in oncology so far. Yet, there are no robust results that allow an estimation of whether and to what extent the disease and treatment impair the participation of children and adolescents and which factors mediate this effect. Social participation is of great importance especially because interactions with peers and experiences in different areas of life are essential for the development of children and adolescents.
Methods: Data are collected in a longitudinal, prospective, observational multicenter study. For this purpose, all patients and their parents who are being treated for cancer in one of the participating clinics throughout Germany will be interviewed within the first month after diagnosis (t1), after completion of intensive treatment (t2) and half a year after the end of intensive treatment (t3) using standardized questionnaires. Analysis will be done by descriptive and multivariate methods.
Discussion: The results can be used to identify children and adolescents in high-risk situations at an early stage in order to be able to initiate interventions tailored to the needs. Such tailored interventions will finally reduce the risk of impairments in the participation of children and adolescents and increase quality of life.
Trial registration: ClinicalTrials.gov: NCT04101123.
Zwischen 1843 und 1888 veröffentlichte Fanny Lewald 24 teils mehrbändige Romane, 27 Bände Novellen und Erzählungen, eine sechsbändige Autobiographie, fünf Reisetagebücher, zahlreiche Feuilletons, Erinnerungen an bekannte Persönlichkeiten, frauenemanzipatorische Schriften und soziale Appelle in Zeitungen und Zeitschriften - ein umfangreiches Werk. Über den Zeitraum von annähernd einem halben Jahrhundert spiegeln ihre Schriften die wechselvolle deutsche Geschichte wider - Vormärz, Märzrevolution 1848, Restauration, Reichseinigung, Kaiserreich - ebenso wie die Geschichte der deutschen Literatur von jungdeutscher Tendenz- und Reflexionsliteratur bis hin zum poetischen Realismus und Naturalismus. Denn mit zahlreichen romantheoretischen Äußerungen, die sich sowohl in ihren Prosawerken wie in Briefen und anderen nichtfiktiven Schriften finden lassen, macht Fanny Lewald wie wenige andere Autorinnen des Vormärz ihren poetologischen Standpunkt deutlich. Früh- und Spätwerk der Autorin sind, bezogen auf ihr erzählerisches Konzept und die Gestaltungsweise, sehr unterschiedlich. Doch in einem Punkt bleibt sich Fanny Lewald treu - ihre Prosa bleibt lebensnah, zeitlebens favorisiert sie den sozialen und psychologischen Roman.
