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cRISPR/cas9-Targeted Knockout of Rice Susceptibility Genes OsDjA2 and OsERF104 Reveals Alternative Sources of Resistance to Pyricularia oryzae

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Rice science 2022年第6期29卷 535-544,I0023-I0030页

作者： Fabiano T.P.KTÁVORA Anne cécile MEUNIER aurore VERNET Murielle PORTEFAIX Joëlle MILAZZO Henri ADREIT Didier THARREAU Octávio LFRANcO Angela MEHTA Department of Genetics and Biotechnology Federal University of Juiz de ForaJuiz de Fora-MG 36036330Brazil Embrapa Genetic Resources and Biotechnology Brasília-DF 70770-917Brazil Genetic Improvement and Adaptation of Mediterranean and Tropical Plants Agricultural Research Center for International Development(CIRAD)Montpellier 34398 CEDEX 5France cIRAD-INRAe-Agro Institute University of MontpellierMontpellier 34000France Plant Health Institute of Montpellier CIRADMontpellier 34398France University of Montpellier National Institute of Agronomic ResearchResearch Institute for DevelopmentMontpellier SupAgroMontpellier 34398France Department of Genomics Science and Biotechnology Proteomics Analysis CenterCatholic University of BrasíliaBrasília-DF 71966-900Brazil S-Inova Biotech Catholic University of Dom BoscoCampo Grande-MS 79117-900Brazil

Rice genes OsDjA2 and OsERF104,encoding a chaperone protein and an APETELA2/ethylene-responsive factor,respectively,are strongly induced in a compatible interaction with blast fungus,and also have function in plant susceptibility validated through gene ***,we reported the cRISPR/cas9 knockout of OsDjA2 and OsERF104 genes resulting in considerable improvement of blast resistance.A total of 15 OsDjA2(62.5%)and 17 OsERF104(70.8%)T_(0)transformed lines were identified from 24 regenerated plants for each target and used in downstream *** of homozygous T1 mutant lines revealed not only a significant decrease in the number of blast lesions but also a reduction in the percentage of diseased leaf area,compared with the infected control *** results supported cRISPR/cas9-mediated target mutation in rice susceptibility genes as a potential and alternative breeding strategy for building resistance to blast disease.

关键词： gene editing plant-pathogen interaction Magnaporthe pathosystem plant immunity blast resistance S-gene rice

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Split Hand/Foot Malformation about Two Family cases

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Open Journal of Pediatrics 2023年第1期13卷 63-68页

作者： Neli Yvette Ngakengni Bredel Djeri Djor Mabika Gauthier J. Buambo Irene L. P. Ondima Lucie c. Ollandzobo Atipo-Ibara Lynda Gamo Tchidjo Landes c. Togho Abessou Samia M. Oya Angouma Benedicte M. Foueta Moukouba Flora Nombo Mavoungou corinne Akouango Gnessou Nuptia c. Obengui Dhalia Y. Ngonya Mbongo Rachelle Dusabimana Bowassa Ekouya Gaston aurore mbika c.rdorelle Faculty of Health Sciences Marien Ngouabi University of Brazzaville (Congo) Brazzaville Congo Neonatology Department University Hospital of Brazzaville (Congo) Brazzaville Congo Stomatology Department University Hospital of Brazzaville (Congo) Brazzaville Congo Obstetrics and Gynecology Department University Hospital of Brazzaville (Congo) Brazzaville Congo Surgery Pediatric Department University Hospital of Brazzaville (Congo) Brazzaville Congo Pediatric Departments University Ce Hospital of Brazzaville (Congo) Brazzaville Congo

Split hand/foot malformation (SHFM), formerly known as ectrodactyly is a rare congénital anomaly, its incidence varies from 1/8.500 to 1/25.000 live birth. It mainly affects the development of the limbs, its clinical variability is standard, can present as an isolated feature or as a syndrome associated with other congenital anomalies. Our objective was to present the two cases of SHFM, and to review the literature on the clinical aspects and discuss a probable origin. The father went to school and is a driver because the malformations concerned only the fingers, were less severe, and did not prevent the realization of certain simple gestures of the daily life. On the other hand, the malformations of the fingers of the newborn were severe and the absence of the thumbs compromised the later prehension function. Also the association of a microglossia and a cleft palate contributed to a weight loss that justified hospitalization. The clinical presentation of split hands and feet is variable and the prognosis depends on the type of anomaly. Familial cases suggest a probable genetic origin. Genetic testing is necessary to establish genetic counseling.

关键词： Split Hand/Foot Malformation Isolated Form Syndromique Form Family

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Evolution and predictive factors of thyroid disorder due to interferon alpha in the treatment of hepatitis c

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World Journal of Gastroenterology 2009年第3期15卷 328-333页

作者： Moana Gelu-Simeon aurore Burlaud Jacques Young Gilles Pelletier catherine Buffet Department of Hepatology and Gastroenterology Bicetre Hospital78 rue du General LeclercLe Kremlin-Bicetre 94275France Department of Endocrinology Bicetre Hospital78 rue du General LeclercLe Kremlin-Bicetre 94275France

AIM:To study predictive factors of thyroid dysfunction associated with interferon-alpha(IFNα) therapy in chronic hepatitis c(cHc) and to describe its long-term evolution in a large population without previous thyroid ***:We performed a follow-up of thyroid function and detection of thyroid antibodies in 301 patients treated for cHc with IFNα from 1999 to ***:Thyroid disorder developed in 30/301(10%) patients with a mean delay of 6 ± 3.75 mo:13 patients had hyperthyroidism,11 had hypothyroidism,and 6 had biphasic *** a mean follow-up of 41.59 ± 15.39 mo,9 patients with hyperthyroidism,3 with hypothyroidism,and 4 with biphasic evolution normalized thyroid function in 7.88 ± 5.46 *** rate of dysthyroidism was not modified by treatment discontinuation,but was better for patients with negative thyroid antibodies before antiviral treatment(P = 0.02).Women had signif icantly more dysthyroidism(P = 0.05).Positive thyroid peroxidase and thyroglobulin antibodies were more frequent before antiviral treatment in patients who developed dysthyroidism(P ctively).In a multivariate model,low fibrosis was found to be a predictive factor of dysthyroidism(P = 0.039).cONcLUSION:In this monocentric population of cHc,dysthyroidism,especially hyperthyroidism,developed in 10% of *** fibrosis was found to be a predictive factor of *** disorder recovered in 16/30 patients(53%) and recovery was better in the non-autoimmune form.

关键词：慢性丙肝干扰素甲状腺紊乱治疗方法

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解析汉娜·阿伦特《人的境况》

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2020年

作者： Sahar aurore Saeidnia，Anthony Lang

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Retinal Vessels Diameter changes during Pregnancy in Type 1 Diabetes

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Open Journal of Ophthalmology 2013年第2期3卷 27-32页

作者： aurore Mensah Afrouz Ahmadzadeh Ann-Sofie Svanbom Lene Ringholm Birgit Sander Henrik Lund-Andersen Elisabeth Mathiesen Michael Larsen Department of Endocrinology Rigshospitalet Copenhagen Denmark Department of Ophthalmology Glostrup Hospital Glostrup Denmark Faculty of Health Sciences University of Copenhagen Copenhagen Denmark

Objective: Investigate how pregnancy-induced hormonal and hemodynamic changes affect retinal vessels caliber dynamic and the course of diabetic retinopathy. Methods: Retinopathy grading and vessel diameter measurement using digital fundus photographs in women with diabetes type 1 taken no more than one year before conception, during week 10 and/or 22, week 34, and within one year after delivery. calibers were measured using a custom-developed semi-automated computer algorithm which identified the six largest arteries and six largest veins and calculated the central retinal artery equivalent (cRAE) and central vein equivalent (cRVE) diameters. Glycemic control was assessed quarterly by HbA1c. Systolic and diastolic blood pressure was assessed at week 10, 22 and 34. Results: Photographs at baseline, weeks 10, 22, 34 and after delivery were available in 28 patients, of whom 24 did not progress in retinopathy. For those whose level of retinopathy remained stable cRAE constricted from 138.80 ± 21.27 μm at baseline to 129.88 ± 13.97 μm at week 10 (p = 0.0379) cRVE constricted from 195.16 ± 24.98 μm at baseline to 185.97 ± 21.96 μm at week 10 (p = 0.0400). The patients with retinopathy progression had a cRAE of 131.67 ± 13.37 μm at baseline and 132.08 ± 11.07 μm at week 10 (p = 0.34) while cRVE was 195.33 ± 24.92 μm at baseline and 204.27 ± 10.18 μm at week 10 (p = 0.16). Progressors had higher blood pressures at week 10. conclusion: Retinal vessels constricted between prepregnancy and first trimester in women who did not experience diabetic retinopathy progression. The study suggests that the vessels constriction seen in early pregnancy contributes to reduce the risk of gestational microvascular complications and progression of diabetes in the eye.

关键词： Pregnancy and Diabetes Type 1 Diabetic Retinopathy central Retinal Artery Equivalent central Retinal Vein Equivalent.

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Measuring consciousness in coma and related states

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World Journal of Radiology 2014年第8期6卷 589-597页

作者： carol Di Perri aurore Thibaut Lizette Heine Andrea Soddu Athena Demertzi Steven Laureys Neuroradiology National Neurological Institute C Mondino 27100 Pavia Italy cyclotron Research center and Neu-rology Department Coma Science Group University of Liège Physics and Astrono-my Department Western University London Ontario N6A 3K7 Canada

consciousness is a prismatic and ambiguous concept that still eludes any universal definition. Severe acquired brain injuries resulting in a disorder of con-sciousness(DOc) provide a model from which insights into consciousness can be drawn. A number of recent studies highlight the difficulty in making a diagnosis in patients with DOc based only on behavioral assessments. Here we aim to provide an overview of how neuroimaging techniques can help assess patients with DOc. Such techniques are expected to facilitate a more accurate understanding of brain function in states of unconsciousness and to improve the evaluation of thepatient's cognitive abilities by providing both diagnostic and prognostic indicators.

关键词： Disorders of consciousness Neuroimaging Magnetic resonance imaging Transcranial magnetic stimulation/electroencephalography Minimally conscious state Vegetative state/unresponsive wakefulness syndrome

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Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters

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Journal of Genetics and Genomics 2023年第7期50卷 536-540页

作者： Alicia coudert caroline cazin Amir Amiri-Yekta Selima Fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine clergeau catherine Metzler-Guillemain chema Triki Herve Lejeune Nathalie Sermondade Eva Pipiras Nadia Prisant Isabelle cedrin Leila Keskes Florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet catherine Patrat Emmanuel Dulioust Aur elie Feraille Franc ois Robert Eric Bieth Arthur Sorlin Jean-Pierre Siffroi Mariem Ben Khelifa Florence Boiterelle Sylvianne Hennebicq Veronique Satre christophe Arnoult charles coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf Pierre F.Ray Genetic Epigenetic and Therapies of Infertility Team Institute for Advanced BiosciencesInserm U 1209CNRS UMR 5309Universite Grenoble Alpes38000GrenobleFrance cHU Grenoble Alpes UM GI-DPI38000GrenobleFrance cHU Grenoble Alpes UM de Genetique Chromosomique38000GrenobleFrance Department of Genetics Reproductive Biomedicine Research CenterRoyan Institute for Reproductive BiomedicineACECRTehranIran Polyclinique les Jasmins Centre d’Aide M edicale a la Procr eationCentre Urbain Nord1003TunisTunisia cHU Grenobles Alpes UF de Biologie de la Procr eation38000GrenobleFrance Reproduction Sciences and Surgery clinique Ibn RochdConstantineAlgeria cHU caen CECOS de CaenD epartement de BiologieUnit e de Biologie de la Reproduction14033CaenFrance APHM Hopital La-conception P^ole Femmes-parents-enfantsCentre Clinico-biologique d’assistance M edicale a la Procr eation-CECOS13385 MarseilleFrance Aix-Marseille Univ InsermMMGU125113385 Marseille Medical Genetics13385 MarseilleFrance clinique Hannibal Centre d’AMPLes Berges du Lac1053TunisTunisia Reproductive Medicine Department Hospices Civil de LyonLyonFrance Hopital Jean Verdier Universit e Sorbonne Paris NordParisFrance cHU de Pointe-a-Pitre/Abymes GuadeloupeFrance Service de Medecine de la Reproduction CHU Jean VerdierParisFrance Faculte de M edecine de Sfax SfaxTunisia cHR Metz-Thionville Service d’Assistance Medicale a la Procr eation57530Ars-LaquenexyFrance Unit of Reproductive Biology Antoine B ecl ere University HospitalUniversity Paris SudClamartParis-Sud UniversityLe Kremlin Bic^etreFrance Univ Rouen Normandie Inserm U1239NorDICAdrenal and Gonadal PathophysiologyReproductive Biology Laboratory-CECOSRouen University Hospital76031Rouen CedexFrance cHAL centre Hospitalier Alpes Leman Centre AMP7474130Contamine-sur-ArveFrance cHU Angers Service de Gen etique49933AngersINSERM U1083France Service de Biologie de la Reproduction-cEcOS Hopital cochin 74014ParisFrance IRH Medicentre Clinique du Val d’Ouest39

Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male *** in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(Ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKc variant(NM_001015878.2:c.144delc,later renamed c.145delc,***49TrpfsTer23),establishing AURKc as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delc variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009).

关键词： diagnosis establishing

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