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Newbornscreening SMA - from Pilot Project to Nationwide Screening in Germany
Abstract: Now that targeted therapies for spinal muscular atrophy are available, attempts are being made worldwide to include screening for spinal muscular atrophy in general newborn screening. In Germany, after pilot projects from 2018-2021, it was included in the general newborn screening from October 2021. To ensure a smooth transition, criteria for follow-up were developed together with key stakeholders. At the beginning of the transition to nationwide screening, false positive findings were reported in 3 patients. After optimization of the screening method in the laboratories concerned, all findings have been subsequently confirmed. On average, the first presentation to a neuromuscular center occurred on day 12 of life, and in patients with 2 or 3 SMN2 copies, therapy started on day 26 of life. Compared with the pilot project, there was no significant delay in timing
Medical Image Computing and Computer Assisted Intervention – MICCAI 2018
The four-volume set LNCS 11070, 11071, 11072, and 11073 constitutes the refereed proceedings of the 21st International Conference on Medical Image Computing and Computer-Assisted Intervention, MICCAI 2018, held in Granada, Spain, in September 2018. The 373 revised full papers presented were carefully reviewed and selected from 1068 submissions in a double-blind review process. The papers have been organized in the following topical sections: Part I: Image Quality and Artefacts; Image Reconstruction Methods; Machine Learning in Medical Imaging; Statistical Analysis for Medical Imaging; Image Registration Methods. Part II: Optical and Histology Applications: Optical Imaging Applications; Histo...
EMBEC & NBC 2017
This volume presents the proceedings of the joint conference of the European Medical and Biological Engineering Conference (EMBEC) and the Nordic-Baltic Conference on Biomedical Engineering and Medical Physics (NBC), held in Tampere, Finland, in June 2017. The proceedings present all traditional biomedical engineering areas, but also highlight new emerging fields, such as tissue engineering, bioinformatics, biosensing, neurotechnology, additive manufacturing technologies for medicine and biology, and bioimaging, to name a few. Moreover, it emphasizes the role of education, translational research, and commercialization.
Paraneoplastic Syndromes
Paraneoplastic syndromes comprise a variety of signs and symptoms that are not directly caused by the primary tumor or its metastases. They may be metabolic, dystrophic or degenerative disorders resulting from remote humoral or hormonal effects, and spontaneously disappear after successful tumor excision or chemo- or radiotherapy. A few years ago, paraneoplastic syndromes were still thought to be rare. Today, we know that a single tumor is capable of producing a variety of hormones and that paraneoplastic syndromes are caused by this ectopic formation of hormones, hormone-like polypeptides, and growth factors. Recent research has shown that viral metabolic intermediates, mutated oncogenes, a...
Neuropädiatrie
Ob Neurologe, Kinderarzt, Neuropädiater oder Sozialpädiater: das Buch informiert Sie systematisch über die therapeutischen Möglichkeiten bei neuropädiatrischen Erkrankungen. Die Therapievorschläge wurden nach Evidenzstärke und Evidenzgrad aus der umfangreichen Literatur ausgewählt und klassifiziert. Beschrieben werden u.a. Themen wie: Fehlbildungen des Zentralnervensystems und Hydrozephalus Genetische Syndrome Neurokutane Erkrankungen Neurometabolische und neurodegenerative Erkrankungen Epileptische und nicht-epileptische Anfälle Schmerzen Neuroonkologische Erkrankungen Entzündliche und immunvermittelte Erkrankungen des Nervensystems Neuromuskuläre Erkrankungen Psychische Störungen (z.B. ADHS, Stottern, Autismus, Magersucht). Neu in der 2. Auflage: Pädaudiologie Erweiterung der Kapitel zu Neugeborenenerkrankungen, neurologischen Stoffwechselleiden, neurodegenerativen und hereditären Bewegungsstörungen Alle therapeutischen Empfehlungen auf dem neuesten Stand / alle Kapitel aktualisiert
Neuromuskuläre Erkrankungen bei Kindern und Jugendlichen
Die Flut neuer diagnostischer und therapeutischer Möglichkeiten macht es bei seltenen Erkrankungen schwer, den Überblick zu bewahren. Wann muss ich an eine neuromuskuläre Erkrankung denken? Was setze ich zur gezielten Diagnostik ein? Welche Differenzialdiagnosen muss ich bedenken? Welche Konsequenzen ergeben sich für den Patienten? Das praxisorientierte Buch, das aus der täglichen Arbeit der Autoren mit neuromuskulären Erkrankung entstanden ist, zeigt Lösungsstrategien auf und gibt Leitstrukturen an die Hand, um Kinder und Jugendliche mit neuromuskulären Erkrankungen sinnvoll betreuen zu können.
NeuroKids - Child Neurology Workbook
"NeuroKids" is the innovative answer to the clinical challenges in child neurology as workbook and corresponding app. With the basic idea of mind maps, the classic textbook has been further developed to provide more targeted information. An uniform classification allows a quick orientation: The Paediatric Clinical Scouts (PCS) provide a condensed knowledge overview and are a guide to diagnostic work-up and therapeutic decision-making. The PCS concentrate on the single patient and give professional skills for emergency medicine, for health care of chronically ill children and adolescents and rehabilitative and palliative therapy. The PCS are complemented by a comprehensive, precise, internati...
