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https://www.readbyqxmd.com/read/28644047/mutational-analysis-of-galt-gene-in-greek-patients-with-galactosaemia-identification-of-two-novel-mutations-and-clinical-evaluation
#1
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations...
June 23, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28639977/topical-delivery-of-immunosuppression-to-prolong-xenogeneic-and-allogeneic-split-thickness-skin-graft-survival
#2
Melissa Mastroianni, Zhi Yang Ng, Ritu Goyal, Christopher Mallard, Evan A Farkash, David A Leonard, Alexander Albritton, Kumaran Shanmugarajah, Josef M Kurtz, David H Sachs, Lauren K Macri, Joachim Kohn, Curtis L Cetrulo
Cadaveric skin allograft is the current standard of treatment for temporary coverage of large burn wounds. Porcine xenografts are viable alternatives but undergo α-1,3-galactose (Gal)-mediated hyperacute rejection and are lost by POD 3 because of naturally occurring antibodies to Gal in primate recipients. Using baboons, we previously demonstrated that xenografts from GalT-KO swine (lacking Gal) provided wound coverage comparable with allografts with systemic immunosuppression. In this study, we investigate topical immunosuppression as an alternative to prolong xenograft survival...
June 7, 2017: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/28621726/microbiota-and-probiotics-in-health-and-hiv-infection
#3
REVIEW
Chiara D'Angelo, Marcella Reale, Erica Costantini
Microbiota play a key role in various body functions, as well as in physiological, metabolic, and immunological processes, through different mechanisms such as the regulation of the development and/or functions of different types of immune cells in the intestines. Evidence indicates that alteration in the gut microbiota can influence infectious and non-infectious diseases. Bacteria that reside on the mucosal surface or within the mucus layer interact with the host immune system, thus, a healthy gut microbiota is essential for the development of mucosal immunity...
June 16, 2017: Nutrients
https://www.readbyqxmd.com/read/28616811/black-cracks-staining-of-fracture-lines
#4
Sarah Scheirs, Assumpció Malgosa, Ignasi Galtés
During the investigation of fresh bone fractures, it might be difficult to visualize all the fracture lines that could contribute to the interpretation of the biomechanics behind a fracture. To optimize the examination of the fracture, the bones should first be defleshed to expose the osseous surface. To reveal small fracture lines more clearly, we developed two easy, fast, cheap and non-destructive methods to enhance fracture lines and bone defects by coloring the fracture lines with ink. One method consists of cooking the bone in ink, and the second method uses capillary action for ink penetration...
June 15, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28602741/disease-resistance-and-response-against-vibrio-anguillarum-intestinal-infection-in-european-seabass-dicentrarchus-labrax-fed-low-fish-meal-and-fish-oil-diets
#5
S Torrecillas, M J Caballero, D Mompel, D Montero, M J Zamorano, L Robaina, F Rivero-Ramírez, V Karalazos, S Kaushik, M Izquierdo
The aim of this study was to assess the effects of low levels of dietary fish meal (FM) and fish oil (FO) on disease resistance and gut associated lymphoid tissue (GALT) response after an experimental intestinal infection with V. anguillarum in European sea bass (Dicentrarchus labrax) For that purpose, sea bass juveniles were fed one of four diets containing combined levels of FO and FM as follows: 20%FM/6%FO, 20%FM/3%FO, 5%FM/6%FO and 5%FM/3%FO during 153 days. At the end of the feeding trial, fish were subjected to either an in vivo exposure to a sub-lethal dose of V...
June 7, 2017: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/28602591/skin-grafts-from-genetically-modified-%C3%AE-1-3-galactosyltransferase-knockout-miniature-swine-a-functional-equivalent-to-allografts
#6
D A Leonard, C Mallard, A Albritton, R Torabi, M Mastroianni, D H Sachs, J M Kurtz, C L Cetrulo
Burn is associated with a considerable burden of morbidity worldwide. Early excision of burned tissue and skin grafting of the resultant wound has been established as a mainstay of modern burn therapy. However, in large burns, donor sites for autologous skin may be limited. Numerous alternatives, from cadaver skin to synthetic substitutes have been described, each with varying benefits and limitations. We previously proposed the use of genetically modified (alpha-1,3-galactosyl transferase knockout, GalT-KO) porcine skin as a viable skin alternative...
June 8, 2017: Burns: Journal of the International Society for Burn Injuries
https://www.readbyqxmd.com/read/28601415/brain-autoimmunity-and-intestinal-microbiota-100-trillion-game-changers
#7
REVIEW
Hartmut Wekerle
T cells play a critical role in autoimmune diseases in the brain, particularly in multiple sclerosis (MS). Since T cells are normally prevented from crossing the blood-brain barrier (BBB), autoimmunity requires prior activation of naturally occurring autoreactive T cells in peripheral tissue. Recently, a critical role for the microbiota in this activation process has emerged. Here, we review the role of gut-associated lymphoid tissues (GALT) as a major site for the phenotypic changes that allow the migration of autoreactive T cells to the brain...
June 7, 2017: Trends in Immunology
https://www.readbyqxmd.com/read/28588575/gut-associated-lymphoid-tissue-a-key-tissue-inside-the-mucosal-immune-system-of-hens-immunized-with-escherichia-coli-f4
#8
Maria F Peralta, Alejandra Magnoli, Fabrisio Alustiza, Armando Nilson, Raúl Miazzo, Adriana Vivas
Immunoglobulin Y (IgY) is the predominant antibody found in hen's (Gallus domesticus) egg yolk. This antibody, developed against several microorganisms in hen egg yolk, has been successfully used as an alternative to immunoglobulins from mammals for use in immunodiagnostics and immunotherapy. Enteropathogenic Escherichia coli (E.coli) F4 is the main etiological agent associated with swine neonatal diarrhea, and it causes notable economic losses in swine production. The aim of the present study was to evaluate the relationship between humoral immune response and the activation of gut-associated lymphoid tissue (GALT) in laying hens intramuscularly immunized with E...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#9
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development. GALT was shown to increase with gestational age in 7-28 weeks human fetuses; later stages were not investigated...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28513595/hiv-2-infection-is-associated-with-preserved-galt-homeostasis-and-epithelial-integrity-despite-ongoing-mucosal-viral-replication
#10
S M Fernandes, A R Pires, P Matoso, C Ferreira, H Nunes-Cabaço, L Correia, E Valadas, J Poças, P Pacheco, H Veiga-Fernandes, R B Foxall, A E Sousa
The mechanisms that enable preservation of gut mucosal integrity during persistent viral replication and inherent inflammation remain unclear. Here, we investigated, for the first time, gut homeostasis in HIV-2 infection, a naturally occurring form of attenuated HIV disease. We found viral replication in both sigmoid and ileum of asymptomatic HIV-2+ patients (range: 240-851 circulating CD4+T-cells per μl) despite their undetectable viremia, accompanied by interferon-γ-producing CD8 T-cell expansion, irrespective of antiretroviral treatment...
May 17, 2017: Mucosal Immunology
https://www.readbyqxmd.com/read/28503933/highly-human-immunodeficiency-virus-exposed-seronegative-men-have-lower-mucosal-innate-immune-reactivity
#11
Jennifer A Fulcher, Laura Romas, Jennifer C Hoffman, Julie Elliott, Terry Saunders, Adam D Burgener, Peter A Anton, Otto O Yang
Risk of HIV acquisition varies, and some individuals are highly HIV-1-exposed, yet, persistently seronegative (HESN). The immunologic mechanisms contributing to this phenomenon are an area of intense interest. As immune activation and inflammation facilitate disease progression in HIV-1-infected persons and gastrointestinal-associated lymphoid tissue is a highly susceptible site for transmission, we hypothesized that reduced gut mucosal immune reactivity may contribute to reduced HIV-1 susceptibility in HESN men with a history of numerous rectal sexual exposures...
June 19, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28474815/probiotic-supplementation-promotes-a-reduction-in-t-cell-activation-an-increase-in-th17-frequencies-and-a-recovery-of-intestinal-epithelium-integrity-and-mitochondrial-morphology-in-art-treated-hiv-1-positive-patients
#12
Gabriella d'Ettorre, Giacomo Rossi, Carolina Scagnolari, Mauro Andreotti, Noemi Giustini, Sara Serafino, Ivan Schietroma, Giuseppe Corano Scheri, Saeid Najafi Fard, Vito Trinchieri, Paola Mastromarino, Carla Selvaggi, Silvia Scarpona, Gianfranco Fanello, Fausto Fiocca, Giancarlo Ceccarelli, Guido Antonelli, Jason M Brenchley, Vincenzo Vullo
INTRODUCTION: HIV infection is characterized by a persistent immune activation associated to a compromised gut barrier immunity and alterations in the profile of the fecal flora linked with the progression of inflammatory symptoms. The effects of high concentration multistrain probiotic (Vivomixx®, Viale del Policlinico 155, Rome, Italy in EU; Visbiome®, Dupont, Madison, Wisconsin in USA) on several aspects of intestinal immunity in ART-experienced HIV-1 patients was evaluated. METHODS: A sub-study of a longitudinal pilot study was performed in HIV-1 patients who received the probiotic supplement twice a day for 6 months (T6)...
April 20, 2017: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/28474193/new-techniques-distinctive-population-unique-normal-databases
#13
EDITORIAL
James R Galt
No abstract text is available yet for this article.
May 4, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28453589/-effects-of-prebiotics-and-probiotics-on-gastrointestinal-tract-lymphoid-tissue-in-hiv-infected-patients
#14
Manuel G Feria, Natalia A Taborda, Juan C Hernandez, María T Rugeles
HIV infection induces alterations in almost all immune cell populations, mainly in CD4+ T cells, leading to the development of opportunistic infections. The gut-associated lymphoid tissue (GALT) constitutes the most important site for viral replication, because the main target cells, memory T-cells, reside in this tissue. It is currently known that alterations in GALT are critical during the course of the infection, as HIV-1 induces loss of tissue integrity and promotes translocation of microbial products from the intestinal lumen to the systemic circulation, leading to a persistent immune activation state and immune exhaustion...
February 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/28450132/a-novel-splicing-mutation-in-galt-gene-causing-galactosemia-in-ecuadorian-family
#15
M De Lucca, C Barba, L Casique
Classic Galactosemia (OMIM 230400) is an autosomal recessive disorder of galactose metabolism caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This disease caused by the inability to metabolize galactose is potentially life-threatening but its pathophysiology has not been clearly defined. GALT gene presents high allelic heterogeneity and around 336 variations have been identified. Here, we report the case of a patient with Classic Galactosemia who was detected during a neonatal screening in Ecuador...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28436956/identification-of-subepithelial-mesenchymal-cells-that-induce-iga-and-diversify-gut-microbiota
#16
Kazuki Nagashima, Shinichiro Sawa, Takeshi Nitta, Masanori Tsutsumi, Tadashi Okamura, Josef M Penninger, Tomoki Nakashima, Hiroshi Takayanagi
Immunoglobulin A (IgA) maintains a symbiotic equilibrium with intestinal microbes. IgA induction in the gut-associated lymphoid tissues (GALTs) is dependent on microbial sampling and cellular interaction in the subepithelial dome (SED). However it is unclear how IgA induction is predominantly initiated in the SED. Here we show that previously unrecognized mesenchymal cells in the SED of GALTs regulate bacteria-specific IgA production and diversify the gut microbiota. Mesenchymal cells expressing the cytokine RANKL directly interact with the gut epithelium to control CCL20 expression and microfold (M) cell differentiation...
June 2017: Nature Immunology
https://www.readbyqxmd.com/read/28414780/sensitive-quantification-of-the-hiv-1-reservoir-in-gut-associated-lymphoid-tissue
#17
Sara Morón-López, Maria C Puertas, Cristina Gálvez, Jordi Navarro, Anna Carrasco, Maria Esteve, Josep Manyé, Manel Crespo, Maria Salgado, Javier Martinez-Picado
BACKGROUND: The implementation of successful strategies to achieve an HIV cure has become a priority in HIV research. However, the current location and size of HIV reservoirs is still unknown since there are limited tools to evaluate HIV latency in viral sanctuaries such as gut-associated lymphoid tissue (GALT). As reported in the so called "Boston Patients", despite undetectable levels of proviral HIV-1 DNA in blood and GALT, viral rebound happens in just few months after ART interruption...
2017: PloS One
https://www.readbyqxmd.com/read/28398774/hiv-persistence-in-gut-associated-lymphoid-tissues-pharmacological-challenges-and-opportunities
#18
Corbin G Thompson, Cynthia L Gay, Angela D M Kashuba
An increasing amount of evidence suggests that HIV replication persists in gut-associated lymphoid tissues (GALT), despite treatment with combination antiretroviral therapy (cART). Residual replication in this compartment may propagate infection at other sites in the body and contribute to sustained immune dysregulation and delayed immune recovery. Therefore, it is important to focus efforts on eliminating residual replication at this site. There are several challenges to accomplishing this goal, including low antiretroviral (ARV) exposure at specific tissue locations within GALT, which might be overcome by using the tools of clinical pharmacology...
June 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28391442/systematic-review-and-meta-analysis-of-intelligence-quotient-in-early-treated-individuals-with-classical-galactosemia
#19
Lindsey Welling, Susan E Waisbren, Kevin M Antshel, Hugh-Owen Colhoun, Matthias Gautschi, Stephanie Grünewald, Rebecca Holman, Johanna H van der Lee, Eileen P Treacy, Annet M Bosch
INTRODUCTION: Cognitive impairment is a well-known complication of classical galactosemia (CG). Differences in patient characteristics and test methods have hampered final conclusions regarding the extent of intellectual disabilities in CG. The primary aim of this systematic review was to assess intellectual performance in early-treated (≤4 weeks of life) individuals with confirmed CG (defined by absent or barely detectable GALT enzyme activity and/or the presence of two null or severe missense variations), assessed with comparable test instruments...
April 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28389744/the-gut-kidney-axis-in-iga-nephropathy-role-of-microbiota-and-diet-on-genetic-predisposition
#20
Rosanna Coppo
Recent data suggest that gut-associated lymphoid tissue (GALT) plays a major role in the development of immunoglobulin A (IgA) nephropathy (IgAN). A genome-wide association study showed that most loci associated with the risk of IgAN are also associated with immune-mediated inflammatory bowel diseases, maintenance of the intestinal barrier and regulation of response to gut pathogens. Studies involving experimental models have demonstrated a pivotal role of intestinal microbiota in the development of IgAN in mice producing high levels of IgA and in transgenic mice overexpressing BAFF, a B-cell factor crucial for IgA synthesis, indicating the role of genetic background, B-cell activity, GALT intestinal immunity and diet...
April 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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