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Article ; Online: Feasibility of Remote Administration of the Uniform Data Set-Version 3 for Assessment of Older Adults With Mild Cognitive Impairment and Alzheimer's Disease.

Sachs, Bonnie C / Latham, Lauren A / Bateman, James R / Cleveland, Mary Jo / Espeland, Mark A / Fischer, Eric / Gaussoin, Sarah A / Leng, Iris / Rapp, Stephen R / Rogers, Samantha / Shappell, Heather M / Williams, Benjamin J / Yang, Mia / Craft, Suzanne

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists

2024

Abstract: ... within ~6 months of participant's in-person visit. Adaptations for phone administration (e.g., Oral Trails ...

Abstract	Objective: Assess the feasibility and concurrent validity of a modified Uniform Data Set version 3 (UDSv3) for remote administration for individuals with normal cognition (NC), mild cognitive impairment (MCI), and early dementia. Method: Participants (N = 93) (age: 72.8 [8.9] years; education: 15.6 [2.5] years; 72% female; 84% White) were enrolled from the Wake Forest ADRC. Portions of the UDSv3 cognitive battery, plus the Rey Auditory Verbal Learning Test, were completed by telephone or video within ~6 months of participant's in-person visit. Adaptations for phone administration (e.g., Oral Trails for Trail Making Test [TMT] and Blind Montreal Cognitive Assessment [MoCA] for MoCA) were made. Participants reported on the pleasantness, difficulty, and preference for each modality. Staff provided validity ratings for assessments. Participants' remote data were adjudicated by cognitive experts blinded to the in person-diagnosis (NC [N = 44], MCI [N = 35], Dementia [N = 11], or other [N = 3]). Results: Remote assessments were rated as pleasant as in-person assessments by 74% of participants and equally difficult by 75%. Staff validity rating (video = 92%; phone = 87.5%) was good. Concordance between remote/in-person scores was generally moderate to good (r = .3 -.8; p < .05) except for TMT-A/OTMT-A (r = .3; p > .05). Agreement between remote/in-person adjudicated cognitive status was good (k = .61-.64). Conclusions: We found preliminary evidence that older adults, including those with cognitive impairment, can be assessed remotely using a modified UDSv3 research battery. Adjudication of cognitive status that relies on remotely collected data is comparable to classifications using in-person assessments.
Language	English
Publishing date	2024-01-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	632972-x
ISSN	1873-5843 ; 0887-6177
ISSN (online)	1873-5843
ISSN	0887-6177
DOI	10.1093/arclin/acae001
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Conference proceedings: Evaluation of a new depot formulation of buprenorphine for sustained post-surgical analgesia in mouse femoral fracture models

Rapp, Anna E. / Wolter, Angelique / Bucher, Christian / Schreiner, Viktoria / Thöne-Reineke, Christa / Huwyler, Jörg / Jirkof, Paulin / Lang, Annemarie

2022 , Page(s) AB71–712

Event/congress	Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2022); Berlin; ; Berufsverband für Orthopädie und Unfallchirurgie; 2022
Keywords	Medizin, Gesundheit ; fracture healing ; mouse ; analgesia ; bone
Publishing date	2022-10-25
Publisher	German Medical Science GMS Publishing House; Düsseldorf
Document type	Conference proceedings
DOI	10.3205/22dkou569
Database	German Medical Science

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Article ; Online: Biallelic variants in the calpain regulatory subunit

Genetics in medicine open

2023 Volume 1, Issue 1, Page(s) 100811

Abstract: Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families.: Methods: We performed exome sequencing and validated variant ... ...

Abstract	Purpose: The aim of this study was to identify the monogenic cause of pulmonary arterial hypertension (PAH), a multifactorial and often fatal disease, in 2 unrelated consanguine families. Methods: We performed exome sequencing and validated variant pathogenicity by whole-blood RNA and protein expression analysis in both families. Further RNA sequencing of preserved lung tissue was performed to investigate the consequences on selected genes that are involved in angiogenesis, proliferation, and apoptosis. Results: We identified 2 rare biallelic variants in Conclusion: The calpain holoenzyme was previously linked to pulmonary vascular development and progression of PAH in patients. We demonstrated that biallelic LoF variants in
Language	English
Publishing date	2023-12-12
Publishing country	United States
Document type	Journal Article
ISSN	2949-7744
ISSN (online)	2949-7744
DOI	10.1016/j.gimo.2023.100811
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Article: Do socioeconomic factors drive

Whiteman, Ari / Loaiza, Jose R / Yee, Donald A / Poh, Karen C / Watkins, Alexandria S / Lucas, Keira J / Rapp, Tyler J / Kline, Lillie / Ahmed, Ayman / Chen, Shi / Delmelle, Eric / Oguzie, Judith Uche

One health (Amsterdam, Netherlands)

2020 Volume 11, Page(s) 100188

Abstract: As the threat of arboviral diseases continues to escalate worldwide, the question of, "What types of human communities are at the greatest risk of infection?" persists as a key gap in the existing knowledge of arboviral diseases transmission dynamics. ... ...

Abstract	As the threat of arboviral diseases continues to escalate worldwide, the question of, "What types of human communities are at the greatest risk of infection?" persists as a key gap in the existing knowledge of arboviral diseases transmission dynamics. Here, we comprehensively review the existing literature on the socioeconomic drivers of the most common
Language	English
Publishing date	2020-10-23
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2834831-X
ISSN	2352-7714
ISSN	2352-7714
DOI	10.1016/j.onehlt.2020.100188
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Article ; Online: A pathoconnectome of early neurodegeneration: Network changes in retinal degeneration.

Pfeiffer, Rebecca L / Anderson, James R / Dahal, Jeebika / Garcia, Jessica C / Yang, Jia-Hui / Sigulinsky, Crystal L / Rapp, Kevin / Emrich, Daniel P / Watt, Carl B / Johnstun, Hope Ab / Houser, Alexis R / Marc, Robert E / Jones, Bryan W

Experimental eye research

2020 Volume 199, Page(s) 108196

Abstract: Connectomics has demonstrated that synaptic networks and their topologies are precise and directly correlate with physiology and behavior. The next extension of connectomics is pathoconnectomics: to map neural network synaptology and circuit topologies ... ...

Abstract	Connectomics has demonstrated that synaptic networks and their topologies are precise and directly correlate with physiology and behavior. The next extension of connectomics is pathoconnectomics: to map neural network synaptology and circuit topologies corrupted by neurological disease in order to identify robust targets for therapeutics. In this report, we characterize a pathoconnectome of early retinal degeneration. This pathoconnectome was generated using serial section transmission electron microscopy to achieve an ultrastructural connectome with 2.18nm/px resolution for accurate identification of all chemical and gap junctional synapses. We observe aberrant connectivity in the rod-network pathway and novel synaptic connections deriving from neurite sprouting. These observations reveal principles of neuron responses to the loss of network components and can be extended to other neurodegenerative diseases.
MeSH term(s)	Amacrine Cells/metabolism ; Amacrine Cells/pathology ; Animals ; Connectome/methods ; Disease Models, Animal ; Gap Junctions ; Rabbits ; Retinal Degeneration/diagnosis ; Retinal Degeneration/metabolism ; Retinal Rod Photoreceptor Cells/metabolism ; Retinal Rod Photoreceptor Cells/pathology ; Synapses/metabolism
Language	English
Publishing date	2020-08-15
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80122-7
ISSN	1096-0007 ; 0014-4835
ISSN (online)	1096-0007
ISSN	0014-4835
DOI	10.1016/j.exer.2020.108196
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Article ; Online: Long distance dispersal and oceanographic fronts shape the connectivity of the keystone sponge Phakellia ventilabrum in the deep northeast Atlantic

2023

Abstract: Little is known about dispersal in deep-sea ecosystems, especially for sponges, which are abundant ecosystem engineers. Understanding patterns of gene flow in deep-sea sponges is essential, especially in areas where rising pressure from anthropogenic ... ...

Abstract	Little is known about dispersal in deep-sea ecosystems, especially for sponges, which are abundant ecosystem engineers. Understanding patterns of gene flow in deep-sea sponges is essential, especially in areas where rising pressure from anthropogenic activities makes difficult to combine management and conservation. Here, we combined population genomics and oceanographic modelling to understand how Northeast Atlantic populations (Cantabrian Sea to Norway) of the deep-sea sponge Phakellia ventilabrum are connected. The analysis comprised ddRADseq derived SNP datasets of 166 individuals collected from 57 sampling stations from 17 different areas, including two Marine Protected Areas, one Special Area of Conservation and other areas with different levels of protection. The 4,017 neutral SNPs used indicated high connectivity and panmixis amongst the majority of areas (Ireland to Norway), spanning ca. 2,500-km at depths of 99–900 m. This was likely due to the presence of strong ocean currents allowing long-distance larval transport, as supported by our migration analysis and by 3D particle tracking modelling. On the contrary, the Cantabrian Sea and Roscoff (France) samples, the southernmost areas in our study, appeared disconnected from the remaining areas, probably due to prevailing current circulation patterns and topographic features, which might be acting as barriers for gene flow. Despite this major genetic break, our results suggest that all protected areas studied are well-connected with each other. Interestingly, analysis of SNPs under selection replicated results obtained for neutral SNPs. The relatively low genetic diversity observed along the study area, though, highlights the potential fragility of this species to changing climates, which might compromise resilience to future threats.
Subject code	333
Language	English
Publishing date	2023-06-16
Publisher	Frontiers
Publishing country	de
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Pathoconnectome Analysis of Müller Cells in Early Retinal Remodeling.

Pfeiffer, Rebecca L / Anderson, James R / Emrich, Daniel P / Dahal, Jeebika / Sigulinsky, Crystal L / Morrison, Hope A B / Yang, Jia-Hui / Watt, Carl B / Rapp, Kevin D / Kondo, Mineo / Terasaki, Hiroko / Garcia, Jessica C / Marc, Robert E / Jones, Bryan W

Advances in experimental medicine and biology

2019 Volume 1185, Page(s) 365–370

Abstract: Glia play important roles in neural function, including but not limited to amino acid recycling, ion homeostasis, glucose metabolism, and waste removal. During retinal degeneration and subsequent retinal remodeling, Müller cells (MCs) are the first cells ...

Abstract	Glia play important roles in neural function, including but not limited to amino acid recycling, ion homeostasis, glucose metabolism, and waste removal. During retinal degeneration and subsequent retinal remodeling, Müller cells (MCs) are the first cells to show metabolic and morphological alterations in response to stress. Metabolic alterations in MCs chaotically progress in retina undergoing photoreceptor degeneration; however, what relationship these alterations have with neuronal stress, synapse maintenance, or glia-glia interactions is currently unknown. The work described here reconstructs a MC from a pathoconnectome of early retinal remodeling retinal pathoconnectome 1 (RPC1) and explores relationships between MC structural and metabolic phenotypes in the context of neighboring neurons and glia. Here we find variations in intensity of osmication inter- and intracellularly, variation in small molecule metabolic content of MCs, as well as morphological alterations of glial endfeet. RPC1 provides a framework to analyze these relationships in early retinal remodeling through ultrastructural reconstructions of both neurons and glia. These reconstructions, informed by quantitative metabolite labeling via computational molecular phenotyping (CMP), allow us to evaluate neural-glial interactions in early retinal degeneration with unprecedented resolution and sensitivity.
MeSH term(s)	Connectome ; Ependymoglial Cells/pathology ; Humans ; Neurons/cytology ; Retina/cytology ; Retina/pathology ; Retinal Degeneration/physiopathology
Language	English
Publishing date	2019-12-26
Publishing country	United States
Document type	Journal Article
ISSN	2214-8019 ; 0065-2598
ISSN (online)	2214-8019
ISSN	0065-2598
DOI	10.1007/978-3-030-27378-1_60
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Article ; Online: Genetic diversity, gene flow and hybridization in fan-shaped sponges (Phakellia spp.) in the North-East Atlantic deep sea

2022

Abstract: Highlights: • First time hybridization is detected in deep-water sponges (Phakellia) using SNPs. • Hybridization corroborated by morphological and microbial analyses. • Connectivity between shallow populations of Phakellia robusta spanning ca. 2,000 km. • ...

Abstract	Highlights: • First time hybridization is detected in deep-water sponges (Phakellia) using SNPs. • Hybridization corroborated by morphological and microbial analyses. • Connectivity between shallow populations of Phakellia robusta spanning ca. 2,000 km. • Molecular connectivity explained by prevalent oceanographic currents. Abstract: Deep-sea North Atlantic sponge grounds are crucial components of the marine fauna providing a key role in ecosystem functioning. To properly develop effective conservation and management plans, it is crucial to understand the genetic diversity, molecular connectivity patterns and turnover at the population level of the species involved. Here we present the study of two congeneric sponges, Phakellia robusta and Phakellia hirondellei, using multiple sources of evidence. Our phylogenetic study using a fragment of COI placed these two species as sister. Haplotype network analysis using COI revealed no genetic structure for P. hirondellei in samples from the Cantabrian Sea (<100 km). Contrastingly, P. robusta showed a clear genetic structure separating deep-water samples from the Cantabrian Sea and the Hatton-Rockall Basin, from samples from shallower waters from Kerry Head Reefs, NW of Orkney, and Norway. ddRADSeq-derived SNPs for P. robusta also segregated samples by bathymetry rather than by geographical distances, and detected a predominant northwards migration for shallow-water specimens connecting sites separated ca. 2,000 km, probably thanks to prevalent oceanographic currents. Importantly, our analysis using SNPs combining the datasets of the two species revealed the presence of potential hybrids, which was corroborated by morphological (spicule) and microbial (16S amplicon sequencing) analyses. Our data suggest that hybridization between these two species occurred at least two times in the past. We discuss the importance of using next-generation techniques to unveil hybridization and the implications of our results for conservation.
Subject code	551
Language	English
Publisher	Elsevier
Publishing country	de
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Loss-of-function variants in

Blackburn, Patrick R / Ebstein, Frédéric / Hsieh, Tzung-Chien / Motta, Marialetizia / Radio, Francesca Clementina / Herkert, Johanna C / Rinne, Tuula / Thiffault, Isabelle / Rapp, Michele / Alders, Mariel / Maas, Saskia / Gerard, Bénédicte / Smol, Thomas / Vincent-Delorme, Catherine / Cogné, Benjamin / Isidor, Bertrand / Vincent, Marie / Bachmann-Gagescu, Ruxandra / Rauch, Anita /

Joset, Pascal / Ferrero, Giovanni Battista / Ciolfi, Andrea / Husson, Thomas / Guerrot, Anne-Marie / Bacino, Carlos / Macmurdo, Colleen / Thompson, Stephanie S / Rosenfeld, Jill A / Faivre, Laurence / Mau-Them, Frederic Tran / Deb, Wallid / Vignard, Virginie / Agrawal, Pankaj B / Madden, Jill A / Goldenberg, Alice / Lecoquierre, François / Zech, Michael / Prokisch, Holger / Necpál, Ján / Jech, Robert / Winkelmann, Juliane / Koprušáková, Monika Turčanová / Konstantopoulou, Vassiliki / Younce, John R / Shinawi, Marwan / Mighton, Chloe / Fung, Charlotte / Morel, Chantal / Ellis, Jordan Lerner- / DiTroia, Stephanie / Barth, Magalie / Bonneau, Dominique / Krapels, Ingrid / Stegmann, Sander / van der Schoot, Vyne / Brunet, Theresa / Bußmann, Cornelia / Mignot, Cyril / Courtin, Thomas / Ravelli, Claudia / Keren, Boris / Ziegler, Alban / Hasadsri, Linda / Pichurin, Pavel N / Klee, Eric W / Grand, Katheryn / Sanchez-Lara, Pedro A / Krüger, Elke / Bézieau, Stéphane / Klinkhammer, Hannah / Krawitz, Peter Michael / Eichler, Evan E / Tartaglia, Marco / Küry, Sébastien / Wang, Tianyun

medRxiv : the preprint server for health sciences

2023

Abstract: Purpose: De novo: Methods: Genetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient- ... ...

Abstract	Purpose: De novo Methods: Genetic data and detailed clinical records were collected via multi-center collaboration. Dysmorphic facial features were analyzed using GestaltMatcher. Variant effects on CUL3 protein stability were assessed using patient-derived T-cells. Results: We assembled a cohort of 35 individuals with heterozygous Conclusion: Our study further refines the clinical and mutational spectrum of
Language	English
Publishing date	2023-06-16
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.06.13.23290941
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Article ; Online: Rod-cone crossover connectome of mammalian bipolar cells.

Lauritzen, J Scott / Sigulinsky, Crystal L / Anderson, James R / Kalloniatis, Michael / Nelson, Noah T / Emrich, Daniel P / Rapp, Christopher / McCarthy, Nicholas / Kerzner, Ethan / Meyer, Miriah / Jones, Bryan W / Marc, Robert E

The Journal of comparative neurology

2016 Volume 527, Issue 1, Page(s) 87–116

Abstract: The basis of cross-suppression between rod and cone channels has long been an enigma. Using rabbit retinal connectome RC1, we show that all cone bipolar cell (BC) classes inhibit rod BCs via amacrine cell (AC) motifs (C1-6); that all cone BC classes are ... ...

Abstract	The basis of cross-suppression between rod and cone channels has long been an enigma. Using rabbit retinal connectome RC1, we show that all cone bipolar cell (BC) classes inhibit rod BCs via amacrine cell (AC) motifs (C1-6); that all cone BC classes are themselves inhibited by AC motifs (R1-5, R25) driven by rod BCs. A sparse symmetric AC motif (CR) is presynaptic and postsynaptic to both rod and cone BCs. ON cone BCs of all classes drive inhibition of rod BCs via motif C1 wide-field GABAergic ACs (γACs) and motif C2 narrow field glycinergic ON ACs (GACs). Each rod BC receives ≈10 crossover AC synapses and each ON cone BC can target ≈10 or more rod BCs via separate AC processes. OFF cone BCs mediate monosynaptic inhibition of rod BCs via motif C3 driven by OFF γACs and GACs and disynaptic inhibition via motifs C4 and C5 driven by OFF wide-field γACs and narrow-field GACs, respectively. Motifs C4 and C5 form halos of 60-100 inhibitory synapses on proximal dendrites of AI γACs. Rod BCs inhibit surrounding arrays of cone BCs through AII GAC networks that access ON and OFF cone BC patches via motifs R1, R2, R4, R5 and a unique ON AC motif R3 that collects rod BC inputs and targets ON cone BCs. Crossover synapses for motifs C1, C4, C5, and R3 are 3-4× larger than typical feedback synapses, which may be a signature for synaptic winner-take-all switches. J. Comp. Neurol. 527:87-116, 2019. © 2016 The Authors The Journal of Comparative Neurology Published by Wiley Periodicals, Inc.
MeSH term(s)	Amacrine Cells/cytology ; Amacrine Cells/physiology ; Animals ; Connectome ; Neural Pathways/anatomy & histology ; Neural Pathways/physiology ; Rabbits ; Retinal Bipolar Cells/cytology ; Retinal Bipolar Cells/physiology ; Retinal Cone Photoreceptor Cells/cytology ; Retinal Cone Photoreceptor Cells/physiology ; Retinal Rod Photoreceptor Cells/cytology ; Retinal Rod Photoreceptor Cells/physiology
Language	English
Publishing date	2016-08-23
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	3086-7
ISSN	1096-9861 ; 0021-9967 ; 0092-7317
ISSN (online)	1096-9861
ISSN	0021-9967 ; 0092-7317
DOI	10.1002/cne.24084
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