8 research outputs found
Monika Pietrzak-Franger: The Male Body and Masculinity. Representations of Men in British Visual Culture of the 1990s
Nina Waldkirch: Der Trend zum Mystery-Genre in neuen Romanen und Filmadaptionen: Dan Brown, Arturo PĂ©rez-Reverte und Wolfgang Hohlbein
Hans Scheugl: Sex und Macht. Eine Metaerzählung des amerikanischen Films des 20. Jahrhunderts
Caterina G. Fox: Wer Weiß schon, wer der Mörder ist? Die Konstruktion von Whiteness in der Krimireihe „Der Alte“
Angela Tillmann: Identitätsspielraum Internet. Lernprozesse und Sebstbildungspraktiken von Mädchen und jungen Frauen in der virtuellen Welt
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1
Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic findings. Methods: Individuals with biallelic variants in LARS1 were included through an international, multicenter collaboration including novel and previously published patients. Clinical variables were analyzed and functional studies were performed in patient-derived fibroblasts. Results: Twenty-five individuals from 15 families were ascertained including 12 novel patients with eight previously unreported variants. The most prominent clinical findings are recurrent elevation of liver transaminases up to liver failure and encephalopathic episodes, both triggered by febrile illness. Magnetic resonance image (MRI) changes during an encephalopathic episode can be consistent with metabolic stroke. Furthermore, growth retardation, microcytic anemia, neurodevelopmental delay, muscular hypotonia, and infection-related seizures are prevalent. Aminoacylation activity is significantly decreased in all patient cells studied upon temperature elevation in vitro. Conclusion: ILFS1 is characterized by recurrent elevation of liver transaminases up to liver failure in conjunction with abnormalities of growth, blood, nervous system, and musculature. Encephalopathic episodes with seizures can occur independently from liver crises and may present with metabolic stroke
Bereich: Hollywood und Männlichkeit
Asbjørn Grønstad: Transfigurations. Violence, Death and Masculinity in American CinemaKathrin Mädler: Broken Men. Sentimentale Melodramen der Männlichkeit – Krisen von Gender und Genre im zeitgenössischen HollywoodfilmUta Fenske: Mannsbilder. Eine geschlechterhistorische Betrachtung von Hollywoodfilmen 1946-1960<br /