Objective: Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures. Methods: Fifty-seven individuals with NM were recruited at two family workshops, including 16 examined at both time points. Subjects were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests...
An animal without a mitochondrial genome: the salmon parasite Henneguya salminicola (Cnidaria: Myxozoa)Dorothée Huchon, Dayana Yahalomi, Stephen D. Atkinson, Moran Neuhof, E. Sally Chang, Hervé Philippe, Paulyn Cartwright & Jerri L. Bartholomew
Although aerobic respiration is a hallmark of eukaryotes, a few unicellular lineages, growing in hypoxic environments, have secondarily lost this ability. In the absence of oxygen, the mitochondria of these organisms have lost all or parts of their genomes and evolved into mitochondria related organelles (MROs). There has been debate regarding the presence of MROs in animals. Using deep sequencing approaches, we discovered that a member of the Cnidaria, the myxozoan Henneguya salminicola, has no...
Objective: To determine whether neurofilament light (NfL), glial fibrillary acidic protein (GFAP), tau, and ubiquitin C-terminal hydrolase-L1 (UCH-L1) measured in serum relate to traumatic brain injury (TBI) diagnosis, injury severity, brain volume, and diffusion tensor imaging (DTI) measures of traumatic axonal injury (TAI) in patients with TBI. Methods: Patients with TBI (n = 162) and controls (n = 68) were prospectively enrolled between 2011 and 2019. Patients with TBI also underwent serum, functional outcome, and...
Objective: To determine whether serum neurofilament light (NfL) correlates with CSF NfL, traumatic brain injury (TBI) diagnosis, injury severity, brain volume, and diffusion tensor imaging (DTI) estimates of traumatic axonal injury (TAI). Methods: Participants were prospectively enrolled in Sweden and the United States between 2011 and 2019. The Swedish cohort included 45 hockey players with acute concussion sampled at 6 days, 31 with repetitive concussion with persistent postconcussive symptoms (PCS) assessed with paired CSF and...
Computerized analysis of brain MRI parameters dynamics in young patients with Cushing Syndrome – a case-control studyAmit Tirosh, Harish RaviPrakash, Georgios Z Papadakis, Christina Tatsi, Elena Belyavskaya, Lyssikatos Charalampos, Maya B. Lodish, Ulas Bagci & Constantine A Stratakis
Background – Young patients with Cushing Syndrome (CS) may develop cognitive and behavioral alterations during disease course. Methods - To define the implications of CS on the brain, we analyzed consecutive MRI scans of patients with (n=29) vs. without CS (n=8). Multiple brain compartments were processed for total and gray/white matter (GM/WM) volumes and intensities; and cortical volume, thickness and surface-area. Dynamics (last/baseline scans ratio per parameter) were analyzed vs. cortisol levels and CS status...
“Hot spring frog” is an informal name used for the Japanese stream tree frog (Buergeria japonica), which is widely distributed in Taiwan and the Ryukyu Archipelago in Japan. Some populations of the species are known to inhabit hot springs. However, water temperature can be extremely high around the sources of hot springs. Thus, it is questionable whether B. japonica selectively inhabits such dangerous environments. To address this question, we conducted a series of observations of...
Data from: Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish)Ciana Deveau, Xiaodong Jiao, Sachihiro Suzuki, Asha Krishnakumar, Takeshi Yoshimatsu, J Fielding Hejtmancik & Ralph Nelson
We investigate mutations in trβ2, a splice variant of thrb, identifying changes in function, structure, and behavior in larval and adult zebrafish retinas. Two N-terminus CRISPR mutants were identified. The first is a 6BP+1 insertion deletion frameshift resulting in a truncated protein. The second is a 3BP in frame deletion with intact binding domains. ERG recordings of isolated cone signals showed that the 6BP+1 mutants did not respond to red wavelengths of light while the...
Supplemental tables from: Antifibrogenic activities of CYP11A1-derived vitamin D3-hydroxyderivatives are dependent on RORγZorica Janjetovic, Arnold Postlethwaite Postlethwaite, Hong Soon Kang, Tae Kang Kim, Robert Tuckey, David Crossman, Anton Jetten & Andrzej Alominski
Previous studies showed that non-calcemic 20(OH)D3, a product of CYP11A1 action on vitamin D3, has antifibrotic activity in human dermal fibroblasts and in a bleomycin mouse model of scleroderma. In this study we tested the role of RORγ, which is expressed in skin, in the action of CYP11A1-derived secosteroids using murine fibroblasts isolated from the skin of wild type (RORg+/+), knock out (RORg-/-) and heterozygote (RORg+/-) mice. CYP11A1-derived 20(OH)D3, 20,23(OH)2D3, 1,20(OH)2D3, and 1,20,23(OH)3D3 inhibited proliferation...
National Institutes of Health8
University of Gothenburg2
University of Tennessee Health Science Center1
University of Kansas1
University of Alabama at Birmingham1
University of Pennsylvania1
University of Crete1
Boston Children's Hospital1
Medical College of Wisconsin1
Centro de Estudios Científicos1