TY  - JOUR
A1  - Farmer, Adam D.
A1  - Strzelczyk, Adam
A1  - Finisguerra, Alessandra
A1  - Gourine, Alexander V.
A1  - Gharabaghi, Alireza
A1  - Hasan, Alkomiet
A1  - Burger, Andreas M.
A1  - Jaramillo, Andrés M.
A1  - Mertens, Ann
A1  - Majid, Arshad
A1  - Verkuil, Bart
A1  - Badran, Bashar W.
A1  - Ventura-Bort, Carlos
A1  - Gaul, Charly
A1  - Beste, Christian
A1  - Warren, Christopher M.
A1  - Quintana, Daniel S.
A1  - Hämmerer, Dorothea
A1  - Freri, Elena
A1  - Frangos, Eleni
A1  - Tobaldini, Eleonora
A1  - Kaniusas, Eugenijus
A1  - Rosenow, Felix
A1  - Capone, Fioravante
A1  - Panetsos, Fivos
A1  - Ackland, Gareth L.
A1  - Kaithwas, Gaurav
A1  - O'Leary, Georgia H.
A1  - Genheimer, Hannah
A1  - Jacobs, Heidi I. L.
A1  - Van Diest, Ilse
A1  - Schoenen, Jean
A1  - Redgrave, Jessica
A1  - Fang, Jiliang
A1  - Deuchars, Jim
A1  - Széles, Jozsef C.
A1  - Thayer, Julian F.
A1  - More, Kaushik
A1  - Vonck, Kristl
A1  - Steenbergen, Laura
A1  - Vianna, Lauro C.
A1  - McTeague, Lisa M.
A1  - Ludwig, Mareike
A1  - Veldhuizen, Maria G.
A1  - De Couck, Marijke
A1  - Casazza, Marina
A1  - Keute, Marius
A1  - Bikson, Marom
A1  - Andreatta, Marta
A1  - D'Agostini, Martina
A1  - Weymar, Mathias
A1  - Betts, Matthew
A1  - Prigge, Matthias
A1  - Kaess, Michael
A1  - Roden, Michael
A1  - Thai, Michelle
A1  - Schuster, Nathaniel M.
A1  - Montano, Nicola
A1  - Hansen, Niels
A1  - Kroemer, Nils B.
A1  - Rong, Peijing
A1  - Fischer, Rico
A1  - Howland, Robert H.
A1  - Sclocco, Roberta
A1  - Sellaro, Roberta
A1  - Garcia, Ronald G.
A1  - Bauer, Sebastian
A1  - Gancheva, Sofiya
A1  - Stavrakis, Stavros
A1  - Kampusch, Stefan
A1  - Deuchars, Susan A.
A1  - Wehner, Sven
A1  - Laborde, Sylvain
A1  - Usichenko, Taras
A1  - Polak, Thomas
A1  - Zaehle, Tino
A1  - Borges, Uirassu
A1  - Teckentrup, Vanessa
A1  - Jandackova, Vera K.
A1  - Napadow, Vitaly
A1  - Koenig, Julian
T1  - International Consensus Based Review and Recommendations for Minimum Reporting Standards in Research on Transcutaneous Vagus Nerve Stimulation (Version 2020)
JF  - Frontiers in Human Neuroscience
N2  - Given its non-invasive nature, there is increasing interest in the use of transcutaneous vagus nerve stimulation (tVNS) across basic, translational and clinical research. Contemporaneously, tVNS can be achieved by stimulating either the auricular branch or the cervical bundle of the vagus nerve, referred to as transcutaneous auricular vagus nerve stimulation(VNS) and transcutaneous cervical VNS, respectively. In order to advance the field in a systematic manner, studies using these technologies need to adequately report sufficient methodological detail to enable comparison of results between studies, replication of studies, as well as enhancing study participant safety. We systematically reviewed the existing tVNS literature to evaluate current reporting practices. Based on this review, and consensus among participating authors, we propose a set of minimal reporting items to guide future tVNS studies. The suggested items address specific technical aspects of the device and stimulation parameters. We also cover general recommendations including inclusion and exclusion criteria for participants, outcome parameters and the detailed reporting of side effects. Furthermore, we review strategies used to identify the optimal stimulation parameters for a given research setting and summarize ongoing developments in animal research with potential implications for the application of tVNS in humans. Finally, we discuss the potential of tVNS in future research as well as the associated challenges across several disciplines in research and clinical practice.
KW  - transcutaneous vagus nerve stimulation
KW  - minimum reporting standards
KW  - guidelines & recommendations
KW  - transcutaneous auricular vagus nerve stimulation
KW  - transcutaneous cervical vagus nerve stimulation
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-234346
SN  - 1662-5161
VL  - 14
ER  - 
TY  - JOUR
A1  - Mannucci, Ilaria
A1  - Dang, Nghi D. P.
A1  - Huber, Hannes
A1  - Murry, Jaclyn B.
A1  - Abramson, Jeff
A1  - Althoff, Thorsten
A1  - Banka, Siddharth
A1  - Baynam, Gareth
A1  - Bearden, David
A1  - Beleza-Meireles, Ana
A1  - Benke, Paul J.
A1  - Berland, Siren
A1  - Bierhals, Tatjana
A1  - Bilan, Frederic
A1  - Bindoff, Laurence A.
A1  - Braathen, Geir Julius
A1  - Busk, Øyvind L.
A1  - Chenbhanich, Jirat
A1  - Denecke, Jonas
A1  - Escobar, Luis F.
A1  - Estes, Caroline
A1  - Fleischer, Julie
A1  - Groepper, Daniel
A1  - Haaxma, Charlotte A.
A1  - Hempel, Maja
A1  - Holler-Managan, Yolanda
A1  - Houge, Gunnar
A1  - Jackson, Adam
A1  - Kellogg, Laura
A1  - Keren, Boris
A1  - Kiraly-Borri, Catherine
A1  - Kraus, Cornelia
A1  - Kubisch, Christian
A1  - Le Guyader, Gwenael
A1  - Ljungblad, Ulf W.
A1  - Brenman, Leslie Manace
A1  - Martinez-Agosto, Julian A.
A1  - Might, Matthew
A1  - Miller, David T.
A1  - Minks, Kelly Q.
A1  - Moghaddam, Billur
A1  - Nava, Caroline
A1  - Nelson, Stanley F.
A1  - Parant, John M.
A1  - Prescott, Trine
A1  - Rajabi, Farrah
A1  - Randrianaivo, Hanitra
A1  - Reiter, Simone F.
A1  - Schuurs-Hoeijmakers, Janneke
A1  - Shieh, Perry B.
A1  - Slavotinek, Anne
A1  - Smithson, Sarah
A1  - Stegmann, Alexander P. A.
A1  - Tomczak, Kinga
A1  - Tveten, Kristian
A1  - Wang, Jun
A1  - Whitlock, Jordan H.
A1  - Zweier, Christiane
A1  - McWalter, Kirsty
A1  - Juusola, Jane
A1  - Quintero-Rivera, Fabiola
A1  - Fischer, Utz
A1  - Yeo, Nan Cher
A1  - Kreienkamp, Hans-Jürgen
A1  - Lessel, Davor
T1  - Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
JF  - Genome Medicine
N2  - Background
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder.

Methods
Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays.

Results
We identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes. DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of dhx30-deficient zebrafish revealed altered sleep-wake activity and social interaction, partially resembling the human phenotype.

Conclusions
Our study highlights the usefulness of social media to define novel Mendelian disorders and exemplifies how functional analyses accompanied by clinical and genetic findings can define clinically distinct subtypes for ultra-rare disorders. Such approaches require close interdisciplinary collaboration between families/legal representatives of the affected individuals, clinicians, molecular genetics diagnostic laboratories, and research laboratories.
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-306477
VL  - 13
ER  -