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https://www.readbyqxmd.com/read/28832893/cognitive-complaint-in-early-parkinson-s-disease-a-pilot-study
#1
J Dupouy, F Ory-Magne, C Mekies, V Rousseau, M Puel, K Rerat, J Pariente, C Brefel-Courbon
BACKGROUND: Subjective cognitive complaint (SCC) is a criterion recommended by the Movement Disorder Society (MDS) task force for the diagnosis of mild cognitive impairment (MCI). Until now there were few specific tools for detecting SCC in PD. We sought to develop a new tool to assess SCC specifically dedicated for PD. MATERIALS AND METHODS: We set a group of experts in movements disorders and neurocognition to develop an easy-to-use tool based on a visual analogue scale (VAS) for five cognitive domains: memory, executive functions, spatial orientation, attention, and language...
August 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28830793/piperine-inhibits-aflatoxin-b1-production-in-aspergillus-flavus-by-modulating-fungal-oxidative-stress-response
#2
Isaura Caceres, Rhoda El Khoury, Sylviane Bailly, Isabelle P Oswald, Olivier Puel, Jean-Denis Bailly
Aspergillus flavus, a soil-borne pathogen, represents a danger for humans and animals since it produces the carcinogenic mycotoxin Aflatoxin B1 (AFB1). Approaches aiming the reduction of this fungal contaminant mainly involve chemicals that may also be toxic. Therefore, identification and characterization of natural anti-aflatoxigenic products represents a sustainable alternative strategy. Piperine, a major component of black and long peppers, has been previously demonstrated asan AFB1-inhibitor; nevertheless its mechanism of action was yet to be elucidated...
October 2017: Fungal Genetics and Biology: FG & B
https://www.readbyqxmd.com/read/28760565/familiarity-and-recollection-vs-representational-models-of-medial-temporal-lobe-structures-a-single-case-study
#3
Emilie Lacot, Stéphane Vautier, Stefan Kőhler, Jérémie Pariente, Chris B Martin, Michèle Puel, Jean-Albert Lotterie, Emmanuel J Barbeau
Although it is known that medial temporal lobe (MTL) structures support declarative memory, the fact these structures have different architectonics and circuitry suggests they may also play different functional roles. Selective lesions of MTL structures offer an opportunity to understand these roles. We report, in this study, on JMG, a patient who presents highly unusual lesions that completely affected all MTL structures except for the right hippocampus and parts of neighbouring medial parahippocampal cortex...
July 29, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28683293/a-specific-gut-microbiota-dysbiosis-of-type-2-diabetic-mice-induces-glp-1-resistance-through-an-enteric-no-dependent-and-gut-brain-axis-mechanism
#4
Estelle Grasset, Anthony Puel, Julie Charpentier, Xavier Collet, Jeffrey E Christensen, François Tercé, Rémy Burcelin
No abstract text is available yet for this article.
July 5, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28679735/hematopoietic-stem-cell-transplantation-in-29-patients-hemizygous-for-hypomorphic-ikbkg-nemo-mutations
#5
Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y Patel, Anne Puel, Jacinta Bustamante, Erwin W Gelfand, Jean-Laurent Casanova, Jordan S Orange, Capucine Picard
X-linked recessive ectodermal dysplasia (EDA) with immunodeficiency (XR-EDA-ID) is a rare primary immunodeficiency (PID) caused by hypomorphic mutations of the IKBKG gene encoding the NEMO protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and non-hematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests that it has been reserved for only the most severe cases...
July 5, 2017: Blood
https://www.readbyqxmd.com/read/28622416/rosacea-and-demodicidosis-associated-with-gain-of-function-mutation-in-stat1
#6
Julie Second, Anne-Sophie Korganow, Sarah Jannier, Anne Puel, Dan Lipsker
We report a family in which 3 of 5 children as well as the mother, had a gain-of-function (GOF) mutation in the signal transducer and activator of transcription (STAT1) associated with early-onset rosacea and demodicidosis. The proband case (Fig. 1) was a 13-year-old boy of non-consanguineous parents, known for a hypothyroidism, failure to thrive and chronic mucocutaneous candidiasis (CMC) since he was 5-6 years old. On examination, he had medio-facial erythema with telangiectasia, as well as sometimes pruritic papulopustular lesions of the face and neck...
June 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28597685/a-gain-of-function-mutation-of-stat1-a-novel-genetic-factor-contributing-to-chronic-mucocutaneous-candidiasis
#7
Narges Eslami, Marzieh Tavakol, Mehrnaz Mesdaghi, Mohammad Gharegozlou, Jean-Laurent Casanova, Anne Puel, Satoshi Okada, Saba Arshi, Mohammad Hassan Bemanian, Morteza Fallahpour, Rasool Molatefi, Farhad Seif, Samaneh Zoghi, Nima Rezaei, Mohammad Nabavi
Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and esophageal candidiases with strictures associated with hypothyroidism and immune hemolytic anemia. His son also suffered from persistent candidiasis, chronic diarrhea, poor weight gain, and pneumonia that resulted in his demise because of sepsis...
June 1, 2017: Acta Microbiologica et Immunologica Hungarica
https://www.readbyqxmd.com/read/28597146/human-i%C3%AE%C2%BAb%C3%AE-gain-of-function-a-severe-and-syndromic-immunodeficiency
#8
REVIEW
Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. The mutation certainly or probably occurred de novo in 13 patients, whereas it was inherited from a parent with somatic mosaicism in one patient...
July 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28522685/correction-self-reactive-vh4-34-expressing-igg-b-cells-recognize-commensal-bacteria
#9
Jean-Nicolas Schickel, Salomé Glauzy, Yen-Shing Ng, Nicolas Chamberlain, Christopher Massad, Isabelle Isnardi, Nathan Katz, Gulbu Uzel, Steven M Holland, Capucine Picard, Anne Puel, Jean-Laurent Casanova, Eric Meffre
No abstract text is available yet for this article.
July 3, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28521160/evidence-for-bisphenol-a-induced-disruption-of-maternal-thyroid-homeostasis-in-the-pregnant-ewe-at-low-level-representative-of-human-exposure
#10
Davy Guignard, Véronique Gayrard, Marlène Z Lacroix, Sylvie Puel, Nicole Picard-Hagen, Catherine Viguié
Many uncertainties remain regarding the potential of bisphenol A (BPA) as a thyroid disruptor in mammals and the relevance of experimental data to humans. The relevance of the exposure schemes used in experimental in vivo studies is also a major source of uncertainty when analysing the risk of BPA exposure for human health. In this context, the goals of our study, conducted in an ovine model relevant to human gestation and thyroid physiologies, were to: 1) determine the equivalence of subcutaneous and dietary exposures and 2) determine if environmentally relevant doses of BPA can alter gestational and newborn thyroid functions...
September 2017: Chemosphere
https://www.readbyqxmd.com/read/28503543/irak4-deficiency-in-a-patient-with-recurrent-pneumococcal-infections-case-report-and-review-of-the-literature
#11
Karina Gobin, Mary Hintermeyer, Bertrand Boisson, Maya Chrabieh, Pegah Gandil, Ann Puel, Capucine Picard, Jean-Laurent Casanova, John Routes, James Verbsky
Primary immunodeficiencies are genetic defects of the innate or adaptive immune system, resulting in a propensity to infections. The innate immune system is the first line of defense against pathogens and is critical to recognize microbes and start the inflammatory cascade. Sensing of microbes occurs by a number of pathogen-recognition receptors, resulting in the activation of inflammatory signal transduction pathways, such as the activation of NF-κB. Herein, we describe a case of IRAK4 deficiency, a key signal transduction molecule of toll-like and IL-1 receptors...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28500047/self-reactive-vh4-34-expressing-igg-b-cells-recognize-commensal-bacteria
#12
Jean-Nicolas Schickel, Salomé Glauzy, Yen-Shing Ng, Nicolas Chamberlain, Christopher Massad, Isabelle Isnardi, Nathan Katz, Gulbu Uzel, Steven M Holland, Capucine Picard, Anne Puel, Jean-Laurent Casanova, Eric Meffre
The germline immunoglobulin (Ig) variable heavy chain 4-34 (VH4-34) gene segment encodes in humans intrinsically self-reactive antibodies that recognize I/i carbohydrates expressed by erythrocytes with a specific motif in their framework region 1 (FWR1). VH4-34-expressing clones are common in the naive B cell repertoire but are rarely found in IgG memory B cells from healthy individuals. In contrast, CD27(+)IgG(+) B cells from patients genetically deficient for IRAK4 or MYD88, which mediate the function of Toll-like receptors (TLRs) except TLR3, contained VH4-34-expressing clones and showed decreased somatic hypermutation frequencies...
July 3, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28467926/a-specific-gut-microbiota-dysbiosis-of-type-2-diabetic-mice-induces-glp-1-resistance-through-an-enteric-no-dependent-and-gut-brain-axis-mechanism
#13
Estelle Grasset, Anthony Puel, Julie Charpentier, Xavier Collet, Jeffrey E Christensen, François Tercé, Rémy Burcelin
Glucagon-like peptide-1 (GLP-1)-based therapies control glycemia in type 2 diabetic (T2D) patients. However, in some patients the treatment must be discontinued, defining a state of GLP-1 resistance. In animal models we identified a specific set of ileum bacteria impairing the GLP-1-activated gut-brain axis for the control of insulin secretion and gastric emptying. Using prediction algorithms, we identified bacterial pathways related to amino acid metabolism and transport system modules associated to GLP-1 resistance...
May 2, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28453536/rtfa-controls-development-secondary-metabolism-and-virulence-in-aspergillus-fumigatus
#14
Ryan R Myers, Timothy D Smith, Sherine F Elsawa, Olivier Puel, Souraia Tadrist, Ana M Calvo
Invasive aspergillosis by Aspergillus fumigatus is a leading cause of infection-related mortality in immune-compromised patients. In order to discover potential genetic targets to control A. fumigatus infections we characterized rtfA, a gene encoding a putative RNA polymerase II transcription elongation factor-like protein. Our recent work has shown that the rtfA ortholog in the model fungus Aspergillus nidulans regulates morphogenesis and secondary metabolism. The present study on the opportunistic pathogen A...
2017: PloS One
https://www.readbyqxmd.com/read/28365859/epithelial-mesenchymal-transition-and-collective-and-individual-cell-migration-regulate-epithelial-changes-in-the-amikacin-damaged-organ-of-corti
#15
Sabine Ladrech, Michel Eybalin, Jean-Luc Puel, Marc Lenoir
Characterizing the microenvironment of a damaged organ of Corti and identifying the basic mechanisms involved in subsequent epithelial reorganization are critical for improving the outcome of clinical therapies. In this context, we studied the expression of a variety of cell markers related to cell shape, cell adhesion and cell plasticity in the rat organ of Corti poisoned with amikacin. Our results indicate that, after severe outer hair cell losses, the cytoarchitectural reorganization of the organ of Corti implicates epithelial-mesenchymal transition mechanisms and involves both collective and individual cell migratory processes...
August 2017: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/28362209/secondary-metabolism-in-penicillium-expansum-emphasis-on-recent-advances-in-patulin-research
#16
Joanna Tannous, Nancy P Keller, Ali Atoui, André El Khoury, Roger Lteif, Isabelle P Oswald, Olivier Puel
The plant pathogenic fungus Penicillium expansum is a major concern of the global food industry due to its wide occurrence and ability to produce various mycotoxins, of which the most significant is patulin. Relatively less highlighted in the literature, in comparison with the other food-borne mycotoxins, patulin is one of the main factors in economic losses of vegetables and fruits. Otherwise, patulin is a health hazard which results in both short-term and long-term risks. This review includes knowledge on the biosynthetic mechanisms used for secondary metabolite production in P...
March 31, 2017: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/28351740/evidencing-98-secondary-metabolites-of-penicillium-verrucosum-using-substrate-isotopic-labeling-and-high-resolution-mass-spectrometry
#17
Thaïs Hautbergue, Olivier Puel, Souria Tadrist, Lauriane Meneghetti, Michel Péan, Marcel Delaforge, Laurent Debrauwer, Isabelle P Oswald, Emilien L Jamin
Industrial applications of fungal compounds, coupled with the emergence of fungal threats to natural ecosystems and public health, have increased interest in filamentous fungi. Among all pathogenic fungi, Penicillium verrucosum is one of the most common mold-infecting stored cereals in temperate regions. However, it is estimated that 80% of fungal secondary metabolites remain unknown. To detect new P. verrucosum compounds, an untargeted metabolomic approach was applied to fungus grown on wheat grains labeled with stable isotopes: (i) natural grains (99% (12)C); (ii) grains enriched with 97% of (13)C; and (iii) grains enriched with 53% of (13)C and 97% of (15)N...
March 12, 2017: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/28283063/systemic-human-ilc-precursors-provide-a-substrate-for-tissue-ilc-differentiation
#18
Ai Ing Lim, Yan Li, Silvia Lopez-Lastra, Ralph Stadhouders, Franziska Paul, Armanda Casrouge, Nicolas Serafini, Anne Puel, Jacinta Bustamante, Laura Surace, Guillemette Masse-Ranson, Eyal David, Helene Strick-Marchand, Lionel Le Bourhis, Roberto Cocchi, Davide Topazio, Paolo Graziano, Lucia Anna Muscarella, Lars Rogge, Xavier Norel, Jean-Michel Sallenave, Matthieu Allez, Thomas Graf, Rudi W Hendriks, Jean-Laurent Casanova, Ido Amit, Hans Yssel, James P Di Santo
Innate lymphoid cells (ILCs) represent innate versions of T helper and cytotoxic T cells that differentiate from committed ILC precursors (ILCPs). How ILCPs give rise to mature tissue-resident ILCs remains unclear. Here, we identify circulating and tissue ILCPs in humans that fail to express the transcription factors and cytokine outputs of mature ILCs but have these signature loci in an epigenetically poised configuration. Human ILCPs robustly generate all ILC subsets in vitro and in vivo. While human ILCPs express low levels of retinoic acid receptor (RAR)-related orphan receptor C (RORC) transcripts, these cells are found in RORC-deficient patients and retain potential for EOMES(+) natural killer (NK) cells, interferon gamma-positive (IFN-γ(+)) ILC1s, interleukin (IL)-13(+) ILC2s, and for IL-22(+), but not for IL-17A(+) ILC3s...
March 9, 2017: Cell
https://www.readbyqxmd.com/read/28257049/identification-of-the-anti-aflatoxinogenic-activity-of-micromeria-graeca-and-elucidation-of-its-molecular-mechanism-in-aspergillus-flavus
#19
Rhoda El Khoury, Isaura Caceres, Olivier Puel, Sylviane Bailly, Ali Atoui, Isabelle P Oswald, André El Khoury, Jean-Denis Bailly
Of all the food-contaminating mycotoxins, aflatoxins, and most notably aflatoxin B₁ (AFB₁), are found to be the most toxic and economically costly. Green farming is striving to replace fungicides and develop natural preventive strategies to minimize crop contamination by these toxic fungal metabolites. In this study, we demonstrated that an aqueous extract of the medicinal plant Micromeria graeca-known as hyssop-completely inhibits aflatoxin production by Aspergillus flavus without reducing fungal growth...
March 1, 2017: Toxins
https://www.readbyqxmd.com/read/28209736/pejvakin-a-candidate-stereociliary-rootlet-protein-regulates-hair-cell-function-in-a-cell-autonomous-manner
#20
Marcin Kazmierczak, Piotr Kazmierczak, Anthony W Peng, Suzan L Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J Franco, Martin Schwander
Mutations in the Pejvakin (PJVK) gene are thought to cause auditory neuropathy and hearing loss of cochlear origin by affecting noise-induced peroxisome proliferation in auditory hair cells and neurons. Here we demonstrate that loss of pejvakin in hair cells, but not in neurons, causes profound hearing loss and outer hair cell degeneration in mice. Pejvakin binds to and colocalizes with the rootlet component TRIOBP at the base of stereocilia in injectoporated hair cells, a pattern that is disrupted by deafness-associated PJVK mutations...
March 29, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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