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https://www.readbyqxmd.com/read/27630671/repair-of-traumatic-plasmalemmal-damage-to-neurons-and-other-eukaryotic-cells
#1
REVIEW
George D Bittner, Christopher S Spaeth, Andrew D Poon, Zachary S Burgess, Christopher H McGill
The repair (sealing) of plasmalemmal damage, consisting of small holes to complete transections, is critical for cell survival, especially for neurons that rarely regenerate cell bodies. We first describe and evaluate different measures of cell sealing. Some measures, including morphological/ultra-structural observations, membrane potential, and input resistance, provide very ambiguous assessments of plasmalemmal sealing. In contrast, measures of ionic current flow and dye barriers can, if appropriately used, provide more accurate assessments...
July 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/25947912/diacylglycerol-signaling-pathway-in-pancreatic-%C3%AE-cells-an-essential-role-of-diacylglycerol-kinase-in-the-regulation-of-insulin-secretion
#2
REVIEW
Yukiko K Kaneko, Tomohisa Ishikawa
Diacylglycerol (DAG) is a lipid signal messenger and plays a physiological role in β-cells. Since defective glucose homeostasis increases de novo DAG synthesis, DAG may also contribute to β-cell dysfunction in type 2 diabetes. Although the primary function of DAG is to activate protein kinase C (PKC), the role of PKC in insulin secretion is controversial: PKC has been reported to act as both a positive and negative regulator of insulin secretion. In addition to the PKC pathway, DAG has also been shown to mediate other pathways such as the Munc-13-dependent pathway in β-cells...
2015: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/25437194/head-impact-exposure-and-neurologic-function-of-youth-football-players
#3
Thayne A Munce, Jason C Dorman, Paul A Thompson, Verle D Valentine, Michael F Bergeron
UNLABELLED: Football players are subjected to repetitive impacts that may lead to brain injury and neurologic dysfunction. Knowledge about head impact exposure (HIE) and consequent neurologic function among youth football players is limited. PURPOSE: This study aimed to measure and characterize HIE of youth football players throughout one season and explore associations between HIE and changes in selected clinical measures of neurologic function. METHODS: Twenty-two youth football players (11-13 yr) wore helmets outfitted with a head impact telemetry (HIT) system to quantify head impact frequency, magnitude, duration, and location...
August 2015: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/25188142/pediatric-and-perinatal-pathology-sy21-2-congenital-hemophagocytic-lymphohistiocytosis-presenting-as-neonatal-liver-failure
#4
Nicole Graf, Nick Evans
Hemophagocytic lymphohistiocytosis (HLH) is a disorder of immune regulation resulting in unregulated activation of T lymphocytes and macrophages, characterised by proliferation of benign appearing histiocytes with evidence of phagocytosis of hemopoietic cells. HLH may be primary / familial, or secondary. Primary HLH is most commonly autosomal recessive, and presents early in life, usually in the first 2 years. Diagnostic criteria were revised as part of the HLH-2004 clinical trial, and remains a syndrome defined by a unique pattern of clinical findings characterized by severe pathological immune activation...
October 2014: Pathology
https://www.readbyqxmd.com/read/25139798/reduced-gene-expression-levels-of-munc13-1-and-additional-components-of-the-presynaptic-exocytosis-machinery-upon-conditional-targeting-of-vglut2-in-the-adolescent-mouse
#5
Aparna Rajagopalan, Nadine Schweizer, Karin Nordenankar, Sultana Nilufar Jahan, Lina Emilsson, Asa Wallén-Mackenzie
Presynaptic proteins orchestrate an intricate interplay of dynamic interactions in order to regulate quantal exocytosis of transmitter-filled vesicles, and their dysregulation might cause neurological and neuropsychiatric dysfunction. Mice carrying a spatio-temporal restriction in the expression of the Vesicular glutamate transporter 2 (Vglut2; aka Slc17a6) in the cortex, amygdala and hippocampal subiculum from the third postnatal week show a strong anxiolytic phenotype and certain behavioural correlates of schizophrenia...
August 19, 2014: Synapse
https://www.readbyqxmd.com/read/24583560/-flow-cytometry-in-the-diagnosis-of-hemophagocytic-lymphohistiocytosis-in-a-case-with-fatal-outcome
#6
Eva Pállinger, Dániel Erdélyi, Gábor Kovács, Gergely Kriván, Zsuzsanna Korponay, György Fekete, András Szabó, András Falus, Beáta Dérfalvi
Hemophagocytic lymphohistiocytosis is a multisystem inflammation, generated by the uncontrolled and excessive activation of cytotoxic T lymphocytes and natural killer cells. Severe immunodeficiency and generalized macrophage activation can often be detected in the background of this life threatening disorder. It is classified as a primary immunodeficiency. Functional abnormalities of the perforin protein or defects in granule secretory mechanisms are caused by gene mutations in most cases. Diagnostic criteria of hemophagocytic lymphohistiocytosis are the following: fever, splenomegaly, cytopenias affecting at least two of the 3 lineages in peripheral blood, hypertriglyceridemia and hyperferritinemia, elevated serum level of soluble interleukin-2 receptor (sCD25), hypofibrinogenemia, hemophagocytosis in bone marrow and decreased cytotoxic T cell and natural killer cell activity...
March 9, 2014: Orvosi Hetilap
https://www.readbyqxmd.com/read/24529293/chronic-disease-and-falls-in-community-dwelling-canadians-over-65-years-old-a-population-based-study-exploring-associations-with-number-and-pattern-of-chronic-conditions
#7
Kathryn M Sibley, Jennifer Voth, Sarah E Munce, Sharon E Straus, Susan B Jaglal
BACKGROUND: Falls and chronic disease are both important health issues in older adults. The objectives of this study were to quantify the prevalence of falls and multi-morbidity (≥2 chronic conditions) in Canadian older adults; examine associations between falls and number of chronic conditions; and explore whether certain patterns of chronic disease were associated with a greater risk of falling. METHODS: Data were derived from the Canadian Community Health Survey- Healthy Aging...
2014: BMC Geriatrics
https://www.readbyqxmd.com/read/24272520/effects-of-youth-football-on-selected-clinical-measures-of-neurologic-function-a-pilot-study
#8
Thayne A Munce, Jason C Dorman, Tryg O Odney, Paul A Thompson, Verle D Valentine, Michael F Bergeron
We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive testing with the Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT) battery revealed that reaction time was significantly faster at postseason (P = .015). There were no significant preseason versus postseason differences in verbal memory (P = ...
December 2014: Journal of Child Neurology
https://www.readbyqxmd.com/read/22566368/hybrid-intravascular-ultrasound-and-optical-coherence-tomography-catheter-for-imaging-of-coronary-atherosclerosis
#9
COMPARATIVE STUDY
Brian H Li, Annie S O Leung, Alan Soong, Chelsea E Munding, Hyunggyun Lee, Amandeep S Thind, Nigel R Munce, Graham A Wright, Corwyn H Rowsell, Victor X D Yang, Bradley H Strauss, F Stuart Foster, Brian K Courtney
OBJECTIVE: To demonstrate the feasibility of imaging human coronary atherosclerosis using a novel hybrid intravascular ultrasound (IVUS) and optical coherence tomography (OCT) imaging catheter. BACKGROUND: IVUS and OCT have synergistic advantages and recent studies involving both modalities suggest the use of a hybrid imaging catheter may offer improved guidance of coronary interventions and plaque characterization. METHODS: A 1.3 m custom hybrid IVUS-OCT imaging probe was built within a 4F catheter using a 42 MHz ultrasound transducer and an OCT imaging fiber...
February 2013: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/22554126/presentation-of-hemophagocytic-lymphohistiocytosis-due-to-a-novel-munc-13-4-mutation-masked-by-partial-therapeutic-immunosuppression
#10
Jackie P-D Garrett, Irene Fung, Jeremy Rupon, Andrea Knight, Melissa Mizesko, Michelle Paessler, Jordan S Orange
Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene mutation may be found which impairs cytolytic lymphocyte function. We describe a pediatric case of hemophagocytic lymphohistiocytosis with a novel mutation of MUNC 13-4 whose diagnosis was confounded by concurrent immunosuppression. Clinical reassessment for hemophagocytic lymphohistiocytosis is necessary in persistently febrile patients with laboratory derangements in the setting of immunosuppressive agent exposure...
2012: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/22532456/analysis-of-a-membrane-enriched-proteome-from-postmortem-human-brain-tissue-in-alzheimer-s-disease
#11
Laura E Donovan, Lenora Higginbotham, Eric B Dammer, Marla Gearing, Howard D Rees, Qiangwei Xia, Duc M Duong, Nicholas T Seyfried, James J Lah, Allan I Levey
PURPOSE: The present study is a discovery mode proteomics analysis of the membrane-enriched fraction of postmortem brain tissue from Alzheimer's disease (AD) and control cases. This study aims to validate a method to identify new proteins that could be involved in the pathogenesis of AD and potentially serve as disease biomarkers. EXPERIMENTAL DESIGN: Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to analyze the membrane-enriched fraction of human postmortem brain tissue from five AD and five control cases of similar age...
April 2012: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/21971331/the-expanding-spectrum-of-hemophagocytic-lymphohistiocytosis
#12
REVIEW
Alexandra H Filipovich
PURPOSE OF REVIEW: Hemophagocytic lymphohistiocytosis (HLH) is more widely recognized by clinicians. No longer viewed as a disorder of young children, adult patients are now being identified and treated. In this review, I summarize clinical features of patients with recently identified genetic causes, discuss a new paradigm for understanding the clinical evolution of HLH, and update current results with hematopoietic cell transplantation. RECENT FINDINGS: The list of genetic defects underlying HLH continues to grow...
December 2011: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/21354649/characterisation-of-the-potential-snare-proteins-relevant-to-milk-product-release-by-mouse-mammary-epithelial-cells
#13
Sophie Chat, Sarah Layani, Clémentine Mahaut, Céline Henry, Eric Chanat, Sandrine Truchet
Casein micelles and fat globules are essential components of milk and are both secreted at the apical side of mammary epithelial cells during lactation. Milk fat globules are excreted by budding, being enwrapped by the apical plasma membrane, while caseins contained in transport vesicles are released by exocytosis. Nevertheless, the molecular mechanisms governing casein exocytosis are, to date, not fully deciphered. SNARE proteins are known to take part in cellular membrane trafficking and in exocytosis events in many cell types and we therefore attempted to identify those relevant to casein secretion...
May 2011: European Journal of Cell Biology
https://www.readbyqxmd.com/read/21303357/familial-haemophagocytic-lymphohistiocytosis-advances-in-the-genetic-basis-diagnosis-and-management
#14
REVIEW
C Gholam, S Grigoriadou, K C Gilmour, H B Gaspar
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune dysregulation associated with uncontrolled T cell and macrophage activation and hypercytokinaemia. The incidence of FHL is 0·12/100·000 children born per year, with a male to female ratio of 1:1. The disease is classified into six different types based on genetic linkage analysis and chromosomal localization; five specific genetic defects have been identified, which account for approximately 90% of all patients...
March 2011: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/21248318/genotype-phenotype-study-of-familial-haemophagocytic-lymphohistiocytosis-type-3
#15
Elena Sieni, Valentina Cetica, Alessandra Santoro, Karin Beutel, Elena Mastrodicasa, Marie Meeths, Benedetta Ciambotti, Francesca Brugnolo, Udo zur Stadt, Daniela Pende, Lorenzo Moretta, Gillian M Griffiths, Jan-Inge Henter, Gritta Janka, Maurizio Aricò
BACKGROUND: Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). OBJECTIVE: To carry out a genotype-phenotype study of patients with FHL3. METHODS: A consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC13D mutations in a common database. RESULTS: 84 patients with FHL3 (median age 4.1 months) were reported from Florence, Italy (n=54), Hamburg, Germany (n=18), Stockholm, Sweden (n=12)...
May 2011: Journal of Medical Genetics
https://www.readbyqxmd.com/read/20375012/the-metabotropic-glutamate-receptor-mglu7-activates-phospholipase-c-translocates-munc-13-1-protein-and-potentiates-glutamate-release-at-cerebrocortical-nerve-terminals
#16
Ricardo Martín, Thierry Durroux, Francisco Ciruela, Magdalena Torres, Jean-Philippe Pin, José Sánchez-Prieto
At synaptic boutons, metabotropic glutamate receptor 7 (mGlu7 receptor) serves as an autoreceptor, inhibiting glutamate release. In this response, mGlu7 receptor triggers pertussis toxin-sensitive G protein activation, reducing presynaptic Ca(2+) influx and the subsequent depolarization evoked release. Here we report that receptor coupling to signaling pathways that potentiate release can be seen following prolonged exposure of nerve terminals to the agonist l-(+)-phosphonobutyrate, l-AP4. This novel mGlu7 receptor response involves an increase in the release induced by the Ca(2+) ionophore ionomycin, suggesting a mechanism that is independent of Ca(2+) channel activity, but dependent on the downstream exocytotic release machinery...
June 4, 2010: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/19953651/hemophagocytic-lymphohistiocytosis-in-texas-observations-on-ethnicity-and-race
#17
J Allyson Niece, Zora R Rogers, Naveed Ahmad, Anne-Marie Langevin, Kenneth L McClain
BACKGROUND: Early recognition and aggressive treatment of hemophagocytic lymphohistiocytosis (HLH) has changed a uniformly fatal disease to one 55% survive. We examined the diagnosis and treatment of pediatric patients with HLH from the three largest academic medical centers in Texas for information on modern non-study treatment and survival. In contrast with previously reported series, the racial and ethnic composition of Texas provided a unique opportunity to evaluate the impact of race and ethnicity on survival with HLH...
March 2010: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/19950846/fatal-epstein-barr-virus-infection-in-a-case-of-familial-hemophagocytic-lymphohistiocytosis-with-syntaxin-11-mutation
#18
Meryem Albayrak, Zühre Kaya, Ebru Yilmaz-Keskin, Udo Zur Stadt, Ulker Koçak, Türkiz Gürsel
Familial hemophagocytic lymphohistiocytosis (FHL) is a fatal disease of early infancy caused by defective natural killer cell activity and is characterized by fever, organomegaly, pancytopenia, and coagulopathy. Disease-causing mutations have been found in perforin, Munc 13-4 and syntaxin-11 genes. We herein describe a case of late-onset FHL with syntaxin-11 mutation in a six-year-old boy in whom only partial response was obtained by immunochemotherapy (HLH-94 protocol) and who died with persistent Epstein-Barr virus (EBV) infection...
July 2009: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/19520914/advances-in-mucous-cell-metaplasia-a-plug-for-mucus-as-a-therapeutic-focus-in-chronic-airway-disease
#19
REVIEW
David R Curran, Lauren Cohn
Mucous cell metaplasia is induced in response to harmful insults and provides front-line protection to clear the airway of toxic substances and cellular debris. In chronic airway diseases mucous metaplasia persists and results in airway obstruction and contributes significantly to morbidity and mortality. Mucus hypersecretion involves increased expression of mucin genes, and increased mucin production and release. The past decade has seen significant advances in our understanding of the molecular mechanisms by which these events occur...
March 2010: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/19267217/type-ii-gaucher-disease-manifesting-as-haemophagocytic-lymphohistiocytosis
#20
L-R Sharpe, P Ancliff, P Amrolia, K C Gilmour, A Vellodi
Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting as HLH. Immunoblot revealed a deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lysosomes. This, and other possible pathogenetic mechanisms to explain the link are discussed...
December 2009: Journal of Inherited Metabolic Disease
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