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Impact of the SARS-CoV-2 Pandemic on the Health of Individuals with Intoxication-type Metabolic Diseases - Data from the E-IMD Consortium
Abstract: The SARS-CoV2 pandemic challenges health care systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. This study (observation period February 2020 to December 2021) evaluates impact on medical health care as well as disease course and outcome of SARS-CoV2-infections in patients with intoxication-type IMDs managed by participants of the European Registry and Network for intoxication type metabolic diseases Consortium (E-IMD). Survey's respondents managing 792 patients (n=479 pediatric; n=313 adult) with intoxi...
Collaborative Evaluation Study on 18 Candidate Diseases for Newborn Screening in 1.77 Million Samples
Abstract: Analytical and therapeutic innovations led to a continuous but variable extension of newborn screening (NBS) programmes worldwide. Every extension requires a careful evaluation of feasibility, diagnostic (process) quality and possible health benefits to balance benefits and limitations. The aim of this study was to evaluate the suitability of 18 candidate diseases for inclusion in NBS programmes. Utilising tandem mass spectrometry as well as establishing specific diagnostic pathways with second-tier analyses, three German NBS centres designed and conducted an evaluation study for 18 candidate diseases, all of them inherited metabolic diseases. In total, 1 777 264 NBS samples were a...
Long-term Anthropometric Development of Individuals with Inherited Metabolic Diseases Identified by Newborn Screening
Abstract: Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favorable development and long-term clinical outcomes. This study aims to assess growth in screened individuals with IMDs under different dietary regimes. Anthropometric data (3585 prospective measures) of 350 screened individuals with IMDs born between 1999 and 2018 and participating in a German prospective multi-center observational study were evaluated. Overall, birth measures were within the reference ranges, suggesting unaffected prena...
Ulrike Ottinger
Since 1974, German filmmaker Ulrike Ottinger has created a substantial body of films that explore a world of difference defined by the tension and transfer between settled and nomadic ways of life. In many of her films, including Exile Shanghai, an experimental documentary about the Jews of Shanghai, and Joan of Arc of Mongolia, in which passengers on the Trans-Siberian Express are abducted by Mongolian bandits, she also probes the encounter with the other, whether exotic or simply unpredictable. In Ulrike Ottinger Laurence A. Rickels offers a series of sensitive and original analyses of Ottinger’s films, as well as her more recent photographic artworks, situated within a dazzling thought ...
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