المؤلفون: Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre Francois, Spodenkiewicz, Marta, Poirsier, Celine, Aubert, Sebastien, Odou, Marie-Francoise, Delemer, Brigitte

المساهمون: CNRS, Université de Lille, Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID) - UMR 8199, Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 CRESTIC, Hôpital universitaire Robert Debré Reims, Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277, Université de Reims Champagne-Ardenne URCA, Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

مصطلحات موضوعية: Knudson two-hit hypothesis, Large rearrangements, CDC73, Hyperparathyroidism, Jaw Tumors, HRPT2

الوصف: OBJECTIVE: We described the phenotype of a large 4-generation family with Hyperparathyrodism-Jaw Tumor syndrome (HPT-JT) associated with a rare deletion of exon 3 of the CDC73 gene. METHODS: We collected medical, genetic data on 24 family members descended from a common ancestor carrying a heterozygous deletion of exon 3. RESULTS: Thirteen carried the deletion, the penetrance was estimated at 50% at 40 years. Seven patients (39 ± 14.5 years) presented with HPT which could start at 13. Median plasmatic calcium and PTH levels were 3.13 ± 0.7 mmol/L and 115 ± 406 pg/ml, respectively. Kidney disease related to hypercalcemia were present in 57.1% of patients. All seven patients underwent surgery to remove a single parathyroid adenoma. One recurrence occurred 7 years post-surgery. No parathyroid carcinoma has been found to date. We found two atypical parathyroid adenomas. We described an additional somatic variant in exon 1 of gene CDC73 in two tumors. Jaw tumors were not necessarily associated with hyperparathyroidism, as shown in one case. Two kidney cysts were also reported. Variable phenotype expressivity was emphasized by clinical presentations in 2 monozygotic twins: acute hypercalcemia, kidney failure and ossifying fibroma in one twin, versus normocalcemic parathyroid adenoma in the other one. CONCLUSIONS: We report a family carrier of a deletion of exon 3 of the CDC73 gene. This is characterized by a high level of hypercalcemia, deleterious kidney effects and atypical parathyroid adenomas without carcinomas. Onset and intensity of HPT remain unpredictable. The additional somatic mutation found in the parathyroid tumor could lead to these phenotypical variations. ; 73

العلاقة: Endocrine; http://hdl.handle.net/20.500.12210/40876Test

الإتاحة: https://doi.org/20.500.12210/40876Test
https://hdl.handle.net/20.500.12210/40876Test

المؤلفون: Broly, Elyette, Lefevre, Benoît, Zachar, Dominique, Hafian, Hilal

المصدر: BMC Oral Health ; volume 19, issue 1 ; ISSN 1472-6831

مصطلحات موضوعية: General Dentistry

الإتاحة: https://doi.org/10.1186/s12903-019-0888-0Test

المؤلفون: Sergheraert, Johan, Zachar, Dominique, Furon, Vincent, Khonsari, Roman-Hossein, Ortonne, Nicolas, Mauprivez, Cedric

المصدر: SAGE Open Medical Case Reports ; volume 7, page 2050313X1983818 ; ISSN 2050-313X 2050-313X

مصطلحات موضوعية: General Medicine

الوصف: Schwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth. This grow pattern has also been observed with other neural tumors which may make diagnosis more difficult. Herein, we report the case of a 28-year-old woman who presented a solitary plexiform schwannoma of great palatine nerve. In the present case, we focused on immunohistochemical analysis in daily practice for the differential diagnosis of schwannomas and their mainly morphological mimics, especially with plexiform neurofibroma, granular cell tumor and malignant peripheral nerve sheath tumors. We also discussed on SMARBC1/IN1 marker usefulness in combination with brain magnetic resonance imaging for the distinction of solitary schwannoma from neurofibromatosis type 2 or schwannomatosis.

الإتاحة: https://doi.org/10.1177/2050313x19838184Test

المؤلفون: Huguenin, Antoine, Lorot, Aurélie, Zachar, Dominique, Dudez, Oriane, Mzabi, Alexandre, Dupuis, Emilie, Lehrter, Véronique, Merol, Jean-Claude, Villena, Isabelle, Depaquit, Jérôme, Toubas, Dominique

المساهمون: Hôpital universitaire Robert Debré Reims (CHU Reims), Protozooses Transmises par l'Alimentation (Cryptosporidiose, Giardose et Toxoplasmose) : Mode de Contamination et Pathogénie (PROTAL) - EA 3800 (PROTAL), Université de Reims Champagne-Ardenne (URCA)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-SFR CAP Santé (Champagne-Ardenne Picardie Santé), Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA), Transmission Vectorielle et Épidémiosurveillance de Maladies Parasitaires - EA 4688 (VECPAR), Université de Reims Champagne-Ardenne (URCA)-SFR CAP Santé (Champagne-Ardenne Picardie Santé), Matrice Extracellulaire et Dynamique Cellulaire - UMR CNRS 7369 (MEDyC), Université de Reims Champagne-Ardenne (URCA)-Université de Reims Champagne-Ardenne (URCA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1369-3786.

مصطلحات موضوعية: [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health

الوصف: International audience

العلاقة: hal-03045895; https://hal.univ-reims.fr/hal-03045895Test; https://hal.univ-reims.fr/hal-03045895/documentTest; https://hal.univ-reims.fr/hal-03045895/file/Huguenin%20A._Med.%20Mycol._2015.pdfTest

الإتاحة: https://doi.org/10.1093/mmy/myv031Test
https://hal.univ-reims.fr/hal-03045895Test
https://hal.univ-reims.fr/hal-03045895/documentTest
https://hal.univ-reims.fr/hal-03045895/file/Huguenin%20A._Med.%20Mycol._2015.pdfTest

المؤلفون: Zachar, Dominique

الوصف: Th.--Méd.--Tours, 1985. N°: 172.

الإتاحة: http://catalogue.bnf.fr/ark:/12148/cb36111603hTest

المؤلفون: Le Collen, Lauriane, Barraud, Sara, Braconnier, Antoine, Coppin, Lucie, Zachar, Dominique, Boulagnon, Camille, Deguelte, Sophie, Souchon, Pierre François, Spodenkiewicz, Marta, Poirsier, Céline, Aubert, Sébastien, Odou, Marie Françoise, Delemer, Brigitte

المساهمون: Institut Européen de Génomique du Diabète - European Genomic Institute for Diabetes - FR 3508 (EGID), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche en Sciences et Technologies de l'Information et de la Communication - EA 3804 (CRESTIC), Université de Reims Champagne-Ardenne (URCA), Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0969-711X ; Endocrine ; https://hal.science/hal-03277372Test ; Endocrine, 2021, 73, pp.693-701. ⟨10.1007/s12020-021-02756-4⟩.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience

العلاقة: hal-03277372; https://hal.science/hal-03277372Test

الإتاحة: https://doi.org/10.1007/s12020-021-02756-4Test
https://hal.science/hal-03277372Test

المؤلفون: Cairo, Stefano, Armengol, Carolina, De Reyniès, Aurélien, Wei, Yu, Thomas, Emilie, Renard, Claire-Angélique, Goga, Andrei, Balakrishnan, Asha, Semeraro, Michaela, Gresh, Lionel, Pontoglio, Marco, Strick-Marchand, Hélène, Levillayer, Florence, Nouet, Yann, Rickman, David, Gauthier, Frédéric, Branchereau, Sophie, Brugières, Laurence, Laithier, Véronique, Bouvier, Raymonde, Boman, Françoise, Basso, Giuseppe, Michiels, Jean-François, Hofman, Paul, Arbez-Gindre, Francine, Jouan, Hélène, Rousselet-Chapeau, Marie-Christine, Berrebi, Dominique, Marcellin, Luc, Plenat, François, Zachar, Dominique, Joubert, Madeleine, Selves, Janick, Pasquier, Dominique, Bioulac-Sage, Paulette, Grotzer, Michael, Childs, Margaret, Fabre, Monique, Buendia, Marie-Annick

المصدر: Cancer Cell ; volume 14, issue 6, page 471-484 ; ISSN 1535-6108

الإتاحة: https://doi.org/10.1016/j.ccr.2008.11.002Test
https://api.elsevier.com/content/article/PII:S1535610808003693?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1535610808003693?httpAccept=text/plainTest

المؤلفون: Huguenin, Antoine, Lorot, Aurélie, Zachar, Dominique, Dudez, Oriane, Mérol, Jean-Claude, Dupuis, Emilie, Mzabi, Alexandre, Fernandes, Magali, Depaquit, Jérôme, Toubas, Dominique

المصدر: Journal de Mycologie Médicale ; volume 25, issue 2, page e108 ; ISSN 1156-5233

مصطلحات موضوعية: Infectious Diseases

الإتاحة: https://doi.org/10.1016/j.mycmed.2015.02.030Test
https://api.elsevier.com/content/article/PII:S1156523315000359?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1156523315000359?httpAccept=text/plainTest

المؤلفون: Huguenin, Antoine, Lorot, Aurélie, Zachar, Dominique, Dudez, Oriane, Mzabi, Alexandre, Dupuis, Emilie, Lehrter, Véronique, Merol, Jean-Claude, Villena, Isabelle, Depaquit, Jérôme, Toubas, Dominique

المصدر: Medical Mycology; Nov2015, Vol. 53 Issue 8, p896-897, 2p