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Homers syndrome

Birgit Spors, Joerg Seemann, Natalie Homer, Aaron Fay
An infant presented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Twenty-one weeks after initial treatment, ophthalmic examination showed complete resolution of the blepharoptosis and pupillary miosis. Percutaneous sclerotherapy not only effectively treated the space-occupying lymphatic malformation but also reversed the Horner syndrome that was presumably induced by neural tension (more likely) or compression...
March 2018: Journal of Neurointerventional Surgery
Birgit Spors, Joerg Seemann, Natalie Homer, Aaron Fay
An infantpresented with right upper eyelid ptosis and was subsequently diagnosed with acquired Horner syndrome. Further evaluation revealed a right-sided cervicothoracic lymphatic malformation. At 13 weeks of age, the child underwent percutaneous intracystic sclerotherapy with a mixture of sodium tetradecyl sulphate and ethanol. Twenty-one weeks after initial treatment, ophthalmic examination showed complete resolution of the blepharoptosis and pupillary miosis. Percutaneous sclerotherapy not only effectively treated the space-occupying lymphatic malformation but also reversed the Horner syndrome that was presumably induced by neural tension (more likely) or compression...
October 23, 2017: BMJ Case Reports
Elisabetta Aloisi, Katy Le Corf, Julien Dupuis, Pei Zhang, Melanie Ginger, Virginie Labrousse, Michela Spatuzza, Matthias Georg Haberl, Lara Costa, Ryuichi Shigemoto, Anke Tappe-Theodor, Filippo Drago, Pier Vincenzo Piazza, Christophe Mulle, Laurent Groc, Lucia Ciranna, Maria Vincenza Catania, Andreas Frick
Metabotropic glutamate receptor subtype 5 (mGluR5) is crucially implicated in the pathophysiology of Fragile X Syndrome (FXS); however, its dysfunction at the sub-cellular level, and related synaptic and cognitive phenotypes are unexplored. Here, we probed the consequences of mGluR5/Homer scaffold disruption for mGluR5 cell-surface mobility, synaptic N-methyl-D-aspartate receptor (NMDAR) function, and behavioral phenotypes in the second-generation Fmr1 knockout (KO) mouse. Using single-molecule tracking, we found that mGluR5 was significantly more mobile at synapses in hippocampal Fmr1 KO neurons, causing an increased synaptic surface co-clustering of mGluR5 and NMDAR...
October 24, 2017: Nature Communications
Nathan A Lewis, Ann Redgrave, Mark Homer, Richard Burden, Wendy Martinson, Brian Moore, Charles R Pedlar
PURPOSE: To examine a diagnosis of unexplained underperformance syndrome (UUPS, or overtraining syndrome) in an international rower describing a full recovery and return to elite competition the same year. METHODS: On diagnosis and 4 and 14 mo postdiagnosis, detailed assessments including physiological, nutritional, and biomarkers were made. RESULTS: Clinical examination and laboratory results for hematology, biochemistry, thyroid function, immunology, vitamins, and minerals were unremarkable and did not explain the presentation and diagnosis...
January 1, 2018: International Journal of Sports Physiology and Performance
M-A Madigand-Tordjman, P-J Egler, F Bertran, M Jokic, F Guénolé
Though benign in the majority of cases, sleepwalking sometimes causes injuries due, among other causes, to falls. Such accidents can be life-threatening - a situation that has been termed Elpenor syndrome (in reference to an accident experienced by a character in Homer's epic The Odyssey) - in particular when entailing defenestration. This syndrome has been described in adults and adolescents; we report here a case in a child. OBSERVATION: This 10-year-old girl was admitted at night to our hospital after a 3-m fall at home...
June 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Eric Lancaster
PURPOSE OF REVIEW: Autoantibodies to Central nervous system (CNS) metabotropic receptors are associated with a growing family of autoimmune brain diseases, including encephalitis, basal ganglia encephalitis, Ophelia syndrome, and cerebellitis. The purpose of this review is to summarize the state of knowledge regarding the target receptors, the neurological autoimmune disorders, and the pathogenic mechanisms. RECENT FINDINGS: Antibodies to the γ-aminobutyric acid B receptor are associate with limbic encephalitis and severe seizures, often with small cell lung cancers...
June 2017: Current Opinion in Neurology
Michael V Homer, Marcus A Rosencrantz, Rana F Shayya, R Jeffrey Chang
BACKGROUND: The influence of estradiol (E2 ) on granulosa cell (GC) function has not been tested clinically in women with polycystic ovary syndrome (PCOS). The objective of this study is to determine if E2 influences GC responses to FSH in women with PCOS. METHODS: This is a two phase, single cohort study conducted over a 2-year period at a single academic center. Nine women with PCOS according to NIH criteria. In Phase 1, FSH stimulation of GC responses as measured by E2 and Inhibin B (Inh B) were assessed before and at 5 and 6 weeks after GnRH agonist administration...
February 10, 2017: Reproductive Biology and Endocrinology: RB&E
Riccardo Pizzo, Antonia Gurgone, Enrico Castroflorio, Elena Amendola, Cornelius Gross, Marco Sassoè-Pognetto, Maurizio Giustetto
Cyclin-dependent kinase-like 5 (CDKL5) mutations are found in severe neurodevelopmental disorders, including the Hanefeld variant of Rett syndrome (RTT; CDKL5 disorder). CDKL5 loss-of-function murine models recapitulate pathological signs of the human disease, such as visual attention deficits and reduced visual acuity. Here we investigated the cellular and synaptic substrates of visual defects by studying the organization of the primary visual cortex (V1) of Cdkl5-/y mice. We found a severe reduction of c-Fos expression in V1 of Cdkl5-/y mutants, suggesting circuit hypoactivity...
2016: Frontiers in Cellular Neuroscience
Argyrios Tzouvelekis, Guoying Yu, Christian L Lino Cardenas, Jose D Herazo-Maya, Rong Wang, Tony Woolard, Yi Zhang, Koji Sakamoto, Hojin Lee, Jae-Sung Yi, Giuseppe DeIuliis, Nikolaos Xylourgidis, Farida Ahangari, Patty J Lee, Vassilis Aidinis, Erica L Herzog, Robert Homer, Anton M Bennett, Naftali Kaminski
RATIONALE: Idiopathic pulmonary fibrosis (IPF) is a chronic fatal lung disease with dismal prognosis and no cure. The potential role of the ubiquitously expressed SH2 domain-containing tyrosine phosphatase-2 (SHP2) as a therapeutic target has not been studied in IPF. OBJECTIVES: To determine the expression, mechanistic role, and potential therapeutic usefulness of SHP2 in pulmonary fibrosis. METHODS: The effects of SHP2 overexpression and inhibition on fibroblast response to profibrotic stimuli were analyzed in vitro in primary human and mouse lung fibroblasts...
February 15, 2017: American Journal of Respiratory and Critical Care Medicine
Angara Sureshbabu, Mansoor Syed, Pragnya Das, Cecilia Janér, Gloria Pryhuber, Arshad Rahman, Sture Andersson, Robert J Homer, Vineet Bhandari
Administration of supplemental oxygen remains a critical clinical intervention for survival of preterm infants with respiratory failure. However, prolonged exposure to hyperoxia can augment pulmonary damage, resulting in developmental lung diseases embodied as hyperoxia-induced acute lung injury and bronchopulmonary dysplasia (BPD). We sought to investigate the role of autophagy in hyperoxia-induced apoptotic cell death in developing lungs. We identified increased autophagy signaling in hyperoxia-exposed mouse lung epithelial-12 cells, freshly isolated fetal type II alveolar epithelial cells, lungs of newborn wild-type mice, and human newborns with respiratory distress syndrome and evolving and established BPD...
November 2016: American Journal of Respiratory Cell and Molecular Biology
Weirui Guo, Gemma Molinaro, Katie A Collins, Seth A Hays, Richard Paylor, Paul F Worley, Karen K Szumlinski, Kimberly M Huber
UNLABELLED: Altered function of the Gq-coupled, Group 1 metabotropic glutamate receptors, specifically mGlu5, is implicated in multiple mouse models of autism and intellectual disability. mGlu5 dysfunction has been most well characterized in the fragile X syndrome mouse model, the Fmr1 knock-out (KO) mouse, where pharmacological and genetic reduction of mGlu5 reverses many phenotypes. mGlu5 is less associated with its scaffolding protein Homer in Fmr1 KO mice, and restoration of mGlu5-Homer interactions by genetic deletion of a short, dominant negative of Homer, H1a, rescues many phenotypes of Fmr1 KO mice...
February 17, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Shigeo Uchino, Chikako Waga
SHANK3 is a synaptic scaffolding protein and plays an important role in neuronal development. SHANK3 interacts with various synaptic molecules, including post-synaptic density-95 (PSD-95), homer and GluR1 AMPA receptor. SHANK3 gene is a causable gene of the Phelan- McDermid syndrome (also known as the 22q13.3 deletion syndrome), whose manifestation is global developmental delay and autistic behavior, especially shows severe speech and language deficit. Additionally since cumulative gene analysis in autistic subjects identified several mutations in SHANK3 gene, including deletion and duplication in a particular region, abnormality of SHANK3 gene is thought the be related with the neuropathology of autism spectrum disorder (ASD)...
2015: Current Neuropharmacology
Scott Mackenzie, Mark Nixon, Ashley Taylor, Rebecca Reynolds, Jennifer Bolton, Caroline Hayward, James Wilson, David Philips, Natalie Homer, Ruth Andrew, Brian Walker
No abstract text is available yet for this article.
November 2015: Psychoneuroendocrinology
Timothy D Folsom, Paul D Thuras, S Hossein Fatemi
Fragile X mental retardation protein (FMRP) is an RNA binding protein with 842 target mRNAs in mammalian brain. Silencing of the fragile X mental retardation 1 (FMR1) gene leads to loss of expression of FMRP and upregulated metabotropic glutamate receptor 5 (mGluR5) signaling resulting in the multiple physical and cognitive deficits associated with fragile X syndrome (FXS). Reduced FMRP expression has been identified in subjects with autism, schizophrenia, bipolar disorder, and major depression who do not carry the mutation for FMR1...
July 2015: Schizophrenia Research
Ai-Hui Tang, Bradley E Alger
The Fmr1 knock-out mouse model of fragile X syndrome (Fmr1(-/y)) has an epileptogenic phenotype that is triggered by group I metabotropic glutamate receptor (mGluR) activation. We found that a membrane-permeable peptide that disrupts mGluR5 interactions with long-form Homers enhanced mGluR-induced epileptiform burst firing in wild-type (WT) animals, replicating the early stages of hyperexcitability in Fmr1(-/y). The peptide enhanced mGluR-evoked endocannabinoid (eCB)-mediated suppression of inhibitory synapses, decreased it at excitatory synapses in WTs, but had no effect on eCB actions in Fmr1(-/y)...
March 4, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Vijay Shankar, Daniel Homer, Laura Rigsbee, Harry J Khamis, Sonia Michail, Michael Raymer, Nicholas V Reo, Oleg Paliy
The goal of this study was to determine if fecal metabolite and microbiota profiles can serve as biomarkers of human intestinal diseases, and to uncover possible gut microbe-metabolite associations. We employed proton nuclear magnetic resonance to measure fecal metabolites of healthy children and those diagnosed with diarrhea-predominant irritable bowel syndrome (IBS-D). Metabolite levels were associated with fecal microbial abundances. Using several ordination techniques, healthy and irritable bowel syndrome (IBS) samples could be distinguished based on the metabolite profiles of fecal samples, and such partitioning was congruent with the microbiota-based sample separation...
August 2015: ISME Journal
Marco Pignatelli, Sonia Piccinin, Gemma Molinaro, Luisa Di Menna, Barbara Riozzi, Milena Cannella, Marta Motolese, Gisella Vetere, Maria Vincenza Catania, Giuseppe Battaglia, Ferdinando Nicoletti, Robert Nisticò, Valeria Bruno
Angelman syndrome (AS) is caused by the loss of Ube3A, an ubiquitin ligase that commits specific proteins to proteasomal degradation. How this defect causes autism and other pathological phenotypes associated with AS is unknown. Long-term depression (LTD) of excitatory synaptic transmission mediated by type 5 metabotropic glutamate (mGlu5) receptors was enhanced in hippocampal slices of Ube3A(m-/p+) mice, which model AS. No changes were found in NMDA-dependent LTD induced by low-frequency stimulation. mGlu5 receptor-dependent LTD in AS mice was sensitive to the protein synthesis inhibitor anisomycin, and relied on the same signaling pathways as in wild-type mice, e...
March 26, 2014: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Samuel C Jurek, Mariko Hirano-Kobayashi, Homer Chiang, Daniel S Kohane, Benjamin D Matthews
The acute respiratory distress syndrome (ARDS), a devastating lung disease that has no cure, is exacerbated by life-supportive mechanical ventilation that worsens lung edema and inflammation through the syndrome of ventilator-induced lung injury. Recently, the membrane ion channel transient receptor potential vanilloid 4 (TRPV4) on alveolar macrophages was shown to mediate murine lung vascular permeability induced by high-pressure mechanical ventilation. The objective of this study was to determine whether inhalation of nanoparticles (NPs) containing the TRPV4 inhibitor ruthenium red (RR) prevents ventilator-induced lung edema in mice...
June 2014: American Journal of Respiratory Cell and Molecular Biology
Edward Passos, Brittany Dingley, Andrew Smith, Paul T Engels, Chad G Ball, Samir Faidi, Avery Nathens, Homer Tien
BACKGROUND: Haemorrhage in peripheral vascular injuries may cause life-threatening exsanguination. Tourniquets are used extensively by the military, with increased interest in the civilian setting to prevent deaths. This is a retrospective study of trauma patients at two large Canadian trauma centres with arterial injury after isolated extremity trauma. We hypothesized that tourniquet use may decrease mortality rate and transfusion requirements if applied early. METHODS: The study group was all adult patients at two Level 1 Trauma Centres in two Canadian cities in Canada, who had arterial injuries from extremity trauma...
March 2014: Injury
R E Ferner, J K Aronson
OBJECTIVE: To review the beneficial and harmful effects of laughter. DESIGN: Narrative synthesis. DATA SOURCES AND REVIEW METHODS: We searched Medline (1946 to June 2013) and Embase (1974 to June 2013) for reports of benefits or harms from laughter in humans, and counted the number of papers in each category. RESULTS: Benefits of laughter include reduced anger, anxiety, depression, and stress; reduced tension (psychological and cardiovascular); increased pain threshold; reduced risk of myocardial infarction (presumably requiring hearty laughter); improved lung function; increased energy expenditure; and reduced blood glucose concentration...
December 12, 2013: BMJ: British Medical Journal
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