Publications by authors named "Marisa Walther"

Objectives: The aim of the present paper is to determine if the ultrasound of hands and feet is comparable to the MRI of the dominant hand to detect erosive disease and inflammation in mild or moderate rheumatoid arthritis (RA).

Methods: Twenty-six patients (14 females; mean age, 48 years) with active mild or moderate RA (mean DAS28, 3.9; mean disease duration, 19 months) were examined clinically, by ultrasound and by gadolinium-enhanced low-field MRI at baseline, after 6 and 12 months (78 examinations).

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Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome. Other AChR subunits alpha1, beta1, and delta (CHRNA1, CHRNB1, CHRND) as well as receptor-associated protein of the synapse (RAPSN) previously revealed missense or compound nonsense-missense mutations in viable congenital myasthenic syndrome; lethality of homozygous null mutations was predicted but never shown.

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