149 results on '"Machet MC"'
Search Results
2. Ultrastructural Demonstration of a Relationship between Acquired Cutis Laxa and Monoclonal Gammopathy
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Machet, L, primary, Maruani, A, additional, Arbeille, B, additional, Machet, MC, additional, Barbet, C, additional, Laure, B, additional, and Martin, L, additional
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- 2010
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3. Extensive, erosive congenital self‐healing cell histiocytosis
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Le Bidre, E, primary, Lorette, G, additional, Delage, M, additional, Esteve, E, additional, Machet, MC, additional, Arbeille, B, additional, and Maruani, A, additional
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- 2009
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4. Pulmonary hypertension in systemic lupus erythematosus-treatment with high dose nifedipine therapy?
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Machet Mc, Desveaux B, Loïc Vaillant, A. Callens, and Laurent Machet
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medicine.medical_specialty ,Nifedipine ,business.industry ,Internal medicine ,medicine ,Cardiology ,Dermatology ,business ,medicine.disease ,Pulmonary hypertension ,medicine.drug - Published
- 1993
5. Dégradation de la fonction rénale chez trois enfants transplantés après 1 an de traitement par hormone de croissance
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Cloarec, S, primary, Benoit, S, additional, Lebranchu, Y, additional, Machet, MC, additional, and Nivet, H, additional
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- 1997
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6. Schnitzler's syndrome (urticaria and macroglobulinemia): evolution to Waldenström's disease is not uncommon.
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Machet, L, primary, Vaillant, L, additional, Machet, MC, additional, Reisenleiter, M, additional, Goupille, P, additional, and Lorette, G., additional
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- 1996
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7. Fluoxetine effect on aortic nitric oxide-dependent vasorelaxation in the unpredictable chronic mild stress model of depression in mice.
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Isingrini E, Belzung C, Freslon JL, Machet MC, and Camus V
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- 2012
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8. Diffuse linear and whorled nevoid hypermelanosis in a newborn.
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Maruani A, Khallouf R, Machet MC, and Lorette G
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- 2012
9. Aspergillus spp. renal arteritis after kidney transplantation: A reappraisal.
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Gueneau R, Giret C, Lafont E, Buchler M, Longuet H, Machet MC, Ghazzar N, Lanternier F, and Lortholary O
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- Female, Humans, Middle Aged, Antifungal Agents therapeutic use, Aspergillus, Aspergillus flavus, Kidney, Aneurysm, False etiology, Aneurysm, False microbiology, Arteritis drug therapy, Arteritis microbiology, Kidney Transplantation adverse effects
- Abstract
Background: Aspergillus spp. is an uncommon and life-threatening cause of transplantrenal artery pseudoaneurysm after kidney transplantation., Case: We report the case of a 62-year-old woman who underwent kidney transplantation 10 months before and presented a 7-cm asymptomatic transplant renal artery pseudoaneurysm. Transplanted kidney and pseudoaneurysm were surgically removed in emergency. Renal graft, urine, and pseudoaneurysm cultures grew Aspergillus flavus. She recovered after 12 months of antifungal therapy., Literature Review: To date 14 cases of Aspergillus spp. renal arteritis after kidney transplantation have been published, including 50% Aspergillus flavus arteritis. Vast majority were diagnosed within 90 days after transplantation (73%). Despite allograft nephrectomy and antifungal therapy, mortality rate was high (33%)., (© 2023 Wiley Periodicals LLC.)
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- 2023
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10. Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours.
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Métais A, Bouchoucha Y, Kergrohen T, Dangouloff-Ros V, Maynadier X, Ajlil Y, Carton M, Yacoub W, Saffroy R, Figarella-Branger D, Uro-Coste E, Sevely A, Larrieu-Ciron D, Faisant M, Machet MC, Wahler E, Roux A, Benichi S, Beccaria K, Blauwblomme T, Boddaert N, Chrétien F, Doz F, Dufour C, Grill J, Debily MA, Varlet P, and Tauziède-Espariat A
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- Humans, Child, Child, Preschool, Retrospective Studies, Epigenesis, Genetic, Astrocytoma pathology, Central Nervous System Neoplasms genetics, Glioma genetics, Brain Neoplasms genetics
- Abstract
Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8-5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system since 2016, but their distinction from others gliomas and particularly from pilocytic astrocytoma (PA) are poorly defined. Most large studies on this subject were published before the era of the molecular diagnosis and did not address the differential diagnosis between PAs and DLGNTs in this peculiar location. Our study retrospectively examined a cohort of 28 children with LGGs and glioneuronal intramedullary tumours using detailed radiological, clinico-pathological and molecular analysis. 25% of spinal PAs were reclassified as DLGNTs. PA and DLGNT are nearly indistinguishable in histopathology or neuroradiology. 83% of spinal DLGNTs presented first without leptomeningeal contrast enhancement. Unsupervised t-distributed stochastic neighbor embedding (t-SNE) analysis of DNA methylation profiles showed that spinal PAs formed a unique methylation cluster distinct from reference midline and posterior fossa PAs, whereas spinal DLGNTs clustered with reference DLGNT cohort. FGFR1 alterations were found in 36% of spinal tumours and were restricted to PAs. Spinal PAs affected significantly younger patients (median age 2 years old) than DLGNTs (median age 8.2 years old). Progression-free survival was similar among the two groups. In this location, histopathology and radiology are of limited interest, but molecular data (methyloma, 1p and FGFR1 status) represent important tools differentiating these two mitogen-activated protein kinase (MAPK) altered tumour types, PA and DLGNT. Thus, these molecular alterations should systematically be explored in this type of tumour in a spinal location., (© 2022. The Author(s).)
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- 2023
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11. Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as "Glioneuronal Tumors, NOS, Subtype A".
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Tauziède-Espariat A, Volodia-Dangouloff-Ros, Figarella-Branger D, Uro-Coste E, Nicaise Y, André N, Scavarda D, Testud B, Girard N, Rousseau A, Basset L, Chotard G, Jecko V, le Loarer F, Hostein I, Machet MC, Tallegas M, Listrat A, Hasty L, Métais A, Chrétien F, Boddaert N, and Varlet P
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- Humans, Methylation, DNA, DNA Methylation genetics, Neoplasms, Neuroepithelial genetics, Central Nervous System Neoplasms pathology, Brain Neoplasms genetics, Brain Neoplasms pathology
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- 2022
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12. Sacrococcygeal Mass in a Newborn: A Quiz.
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Mukendi-Nkesu Y, Machet MC, Binet A, Édée É, and Maruani A
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- Humans, Infant, Newborn, Sacrococcygeal Region, Teratoma
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- 2022
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13. Investigation of the RB1-SOX2 axis constitutes a tool for viral status determination and diagnosis in Merkel cell carcinoma.
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Thanguturi S, Tallet A, Miquelestorena-Standley E, Coco C, Le Corre Y, Hainaut-Wierzbicka E, Blom A, Saiag P, Beneton N, Bens G, Zaragoza J, Nardin C, Aubin F, Dinulescu M, Machet MC, Houben R, Schrama D, Collin C, Fromont G, Jullie ML, Macagno N, Gaboriaud P, Berthon P, Touzé A, Guyétant S, Samimi M, and Kervarrec T
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- Humans, Retinoblastoma Binding Proteins, SOXB1 Transcription Factors metabolism, Ubiquitin-Protein Ligases, Carcinoma, Merkel Cell diagnosis, Carcinoma, Merkel Cell pathology, Merkel cell polyomavirus metabolism, Polyomavirus Infections complications, Polyomavirus Infections metabolism, Skin Neoplasms pathology, Tumor Virus Infections complications
- Abstract
MCC (Merkel cell carcinoma) is an aggressive neuroendocrine cutaneous neoplasm. Integration of the Merkel cell polyomavirus (MCPyV) is observed in about 80% of the cases, while the remaining 20% are related to UV exposure. Both MCPyV-positive and -negative MCCs-albeit by different mechanisms-are associated with RB1 inactivation leading to overexpression of SOX2, a major contributor to MCC biology. Moreover, although controversial, loss of RB1 expression seems to be restricted to MCPyV-negative cases.The aim of the present study was to assess the performances of RB1 loss and SOX2 expression detected by immunohistochemistry to determine MCPyV status and to diagnose MCC, respectively.Overall, 196 MCC tumors, 233 non-neuroendocrine skin neoplasms and 70 extra-cutaneous neuroendocrine carcinomas (NEC) were included. SOX2 and RB1 expressions were assessed by immunohistochemistry in a tissue micro-array. Diagnostic performances were determined using the likelihood ratio (LHR).RB1 expression loss was evidenced in 27% of the MCC cases, 12% of non-neuroendocrine skin tumors and 63% of extra-cutaneous NEC. Importantly, among MCC cases, RB1 loss was detected in all MCPyV(-) MCCs, while MCPyV( +) cases were consistently RB1-positive (p < 0.001). SOX2 diffuse expression was observed in 92% of the MCC cases and almost never observed in non-neuroendocrine skin epithelial neoplasms (2%, p < 0.0001, LHR + = 59). Furthermore, SOX2 diffuse staining was more frequently observed in MCCs than in extra-cutaneous NECs (30%, p < 0.001, LHR + = 3.1).These results confirm RB1 as a robust predictor of MCC viral status and further suggest SOX2 to be a relevant diagnostic marker of MCC., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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- 2022
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14. Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.
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Bouchoucha Y, Tauziède-Espariat A, Gauthier A, Guillemot D, Bochaton D, Vibert J, Carton M, Watson S, Grossetête S, Quignot C, Orbach D, Corradini N, Schleiermacher G, Bourdeaut F, Simbozel M, Dufour C, Minard-Colin V, Brahmi M, Tirode F, Pissaloux D, Karanian M, Machet MC, Masliah-Planchon J, Delattre O, Cardoen L, Pierron G, and Doz F
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- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Middle Aged, Proto-Oncogene Proteins genetics, Repressor Proteins genetics, Retrospective Studies, Young Adult, Endometrial Neoplasms, Sarcoma genetics
- Abstract
BCOR-ITD tumours form an emerging family of aggressive entities with an internal tandem duplication (ITD) in the last exon of the BCOR gene. The family includes cerebral tumours, termed central nervous system BCOR-ITD (CNS BCOR-ITD), and sarcomatous types described in the kidney as clear cell sarcoma of the kidney (CCSK), in the endometrium as high-grade endometrial stromal sarcoma, and in the bone and soft tissue as undifferentiated round cell sarcoma or primitive myxoid mesenchymal tumour of infancy. Based on a series of 33 retrospective cases, including 10 CNS BCOR-ITD and 23 BCOR-ITD sarcomas, we interrogated the homogeneity of the entity regarding clinical, radiological, and histopathological findings, and molecular signatures. Whole-transcriptomic sequencing and DNA methylation profiling were used for unsupervised clustering. BCOR-ITD tumours mostly affected young children with a median age at diagnosis of 2.1 years (range 0-62.4). Median overall survival was 3.9 years and progression-free survival was 1.4 years. This dismal prognosis is shared among tumours in all locations except CCSK. Histopathological review revealed marked differences between CNS BCOR-ITD and BCOR-ITD sarcomas. These two groups were consistently segregated by unsupervised clustering of expression (n = 22) and DNA methylation (n = 21) data. Proximity between the two groups may result from common somatic changes within key pathways directly related to the novel activity of the ITD itself. Conversely, comparison of gene signatures with single-cell RNA-Seq atlases suggests that the distinction between BCOR-ITD sarcomas and CNS BCOR-ITD may result from differences in cells of origin., (© 2022 The Authors. The Journal of Pathology: Clinical Research published by The Pathological Society of Great Britain and Ireland & John Wiley & Sons, Ltd.)
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- 2022
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15. Impact of expert pathology review in skin adnexal carcinoma diagnosis: Analysis of 2573 patients from the French CARADERM network.
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Battistella M, Balme B, Jullie ML, Zimmermann U, Carlotti A, Crinquette M, Frouin E, Macagno N, Ortonne N, Lamant L, de la Fouchardiere A, Aubriot-Lorton MH, Durand L, Josselin N, Franck F, Chatelain D, Lemasson G, Algros MP, Durlach A, Machet MC, Courville P, Osio A, Seris A, Mortier L, Jouary T, and Cribier B
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- Humans, Skin pathology, Carcinoma, Neoplasms, Adnexal and Skin Appendage diagnosis, Sebaceous Gland Neoplasms diagnosis, Sebaceous Gland Neoplasms pathology, Skin Neoplasms diagnosis, Skin Neoplasms pathology, Sweat Gland Neoplasms pathology
- Abstract
Purpose: To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France., Methods: From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis., Results: The samples comprised 2205 newly diagnosed adnexal carcinomas, 129 benign adnexal tumours, 136 basal cell carcinomas, 74 squamous cell carcinomas, six cutaneous metastases and 13 other malignancies. There were 930 (42%) sweat gland carcinomas, of which porocarcinoma (261; 11.8%), microcystic adnexal carcinoma (125; 5.7%) and hidradenocarcinoma (109; 4.9%) were the most frequent subtypes; 778 (35%) hair follicle carcinomas, 238 (11%) sebaceous carcinomas and 212 (10%) extramammary Paget diseases/mammary-like anogenital gland adenocarcinomas. A diagnostic change between referral and expert review occurred in 503 (21.3%) patients, significantly higher for cases sent with a provisional diagnosis seeking an expert second opinion (45.7%) than for cases sent with a formal diagnosis (2.8%) (p < .0001). Sweat gland carcinomas were more prone to diagnostic discrepancies than other tumours (p < .0001), including 1.8% of patients with sweat gland carcinoma subtype misclassification with predicted clinical impact. Changes between benign and malignant conditions occurred in 117 samples (5% of patients)., Conclusion: The study provides a unique description of the distribution of skin adnexal carcinomas and highlights the importance of expert review for these rare cancers. Optimal clinical management was impacted in a significant proportion of patients., Competing Interests: Conflict of interest statement The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article., (Copyright © 2021 Elsevier Ltd. All rights reserved.)
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- 2022
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16. Contactin-1 is a novel target antigen in membranous nephropathy associated with chronic inflammatory demyelinating polyneuropathy.
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Le Quintrec M, Teisseyre M, Bec N, Delmont E, Szwarc I, Perrochia H, Machet MC, Chauvin A, Mavroudakis N, Taieb G, Lanfranco L, Rigothier C, José B, Concetta C, Geneste C, Pernin V, Larroque C, Devaux J, and Beyze A
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- Autoantibodies, Humans, Immunoglobulin G, Receptors, Phospholipase A2, Contactin 1, Glomerulonephritis, Membranous diagnosis, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
- Abstract
Primary membranous nephropathy (MN) is an autoimmune glomerular disease in which autoantibodies are directed against podocyte proteins. In about 80% of cases the main targeted antigen is the phospholipase A2 receptor 1 (PLA2R1). Anti-PLA2R1 antibodies are mainly immunoglobulin G type 4 (IgG4). However, the antigenic target remains to be defined in 20% of cases. MN can be associated with chronic inflammatory demyelinating polyneuropathy, an autoimmune disease of the peripheral nervous system where a common antigenic target has yet to be identified. To ascertain a possible novel target antigen, we analyzed kidney biopsies from five patients positive for anti-contactin 1 antibodies and presenting with MN combined with chronic inflammatory demyelinating polyneuropathy. Eluted IgG from biopsy sections against contactin 1 and nerve tissue were screened. Western blot revealed contactin 1 expression in normal kidney glomeruli. Confocal microscopic analysis showed the presence and colocalization of contactin 1 and IgG4 on the glomerular basement membrane of these patients. Glomerular contactin 1 was absent in patients with anti-PLA2R1-associated MN or membranous lupus nephritis or a healthy control. The eluted IgG from contactin 1-positive biopsy sections but not the IgG eluted from patients with PLA2R1 MN bound contactin 1 with the main eluted subclass IgG4. Eluted IgG could bind paranodal tissue (myelinated axon) and colocalized with commercial anti-contactin 1 antibody. Thus, contactin 1 is a novel common antigenic target in MN associated with chronic inflammatory demyelinating polyneuropathy. However, the precise pathophysiology remains to be elucidated., (Copyright © 2021. Published by Elsevier Inc.)
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- 2021
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17. High-Frequency Transient Elastography Prototype to Assess Skin (Dermis) Fibrosis: A Diagnostic Study in Patients with Venous Insufficiency and Controls.
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Mofid Y, Faleweei G, Chartier C, Machet L, Vierron E, Gissot V, Tauveront V, Georgescou G, Dujardin PA, Machet MC, Kervarrec T, Patat F, Ossant F, and Maruani A
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- Dermis, Fibrosis, Humans, Liver Cirrhosis, ROC Curve, Skin, Elasticity Imaging Techniques, Venous Insufficiency diagnostic imaging
- Abstract
Purpose: High-frequency transient elastography (HF-TE) is a noninvasive technique for assessing shear-wave speed and finally elasticity in thin tissue such as the skin. It has never been validated for monitoring fibrotic skin diseases. The purpose was to evaluate the potential of HF-TE to assess skin fibrosis in patients with chronic venous disorders (CVD)., Materials and Methods: This clinical study enrolled 48 patients at various stages of CVD and 48 paired healthy volunteers. Subjects underwent a clinical examination with an evaluation of Rodnan's fibrosis skin score. We studied the dermis thickness measured using ultrasound (US) and elasticity measurements using cutometer and HF-TE studied according to 3 cutaneous zones positioned on the leg. The area under the receiver operating characteristic curve (AUC) was calculated to evaluate the diagnosis performance for a combined parameter (PRL) based on a logistic regression model using both elasticity and dermal thickness., Results: Patients with CVD had significantly higher values of skin elasticity than healthy subjects, 134.5 kPa and 132.1 kPa vs. 91.3 kPa, respectively. The dermis thickness also increased with escalation in CVD stage for all studied zones. The PRL parameter had an AUC value of 0.79 for all zones and stages of CVD clustered. The discriminating power of PRL increased with escalation of the CVD stage; with an AUC value of up to 0.89 for evolved stages, and a sensitivity and specificity of 0.79 and 0.89, respectively., Conclusion: HF-TE, coupled with a US measurement of dermis thickness, made it possible to propose a new biomarker, which proved to be a good diagnostic tool for skin fibrosis., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)
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- 2021
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18. Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.
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Tauziède-Espariat A, Siegfried A, Nicaise Y, Kergrohen T, Sievers P, Vasiljevic A, Roux A, Dezamis E, Benevello C, Machet MC, Michalak S, Puiseux C, Llamas-Gutierrez F, Leblond P, Bourdeaut F, Grill J, Dufour C, Guerrini-Rousseau L, Abbou S, Dangouloff-Ros V, Boddaert N, Saffroy R, Hasty L, Wahler E, Pagès M, Andreiuolo F, Lechapt E, Chrétien F, Blauwblomme T, Beccaria K, Pallud J, Puget S, Uro-Coste E, and Varlet P
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- Adolescent, Adult, Child, Child, Preschool, DNA Methylation genetics, Ependymoma classification, Ependymoma metabolism, Ependymoma pathology, Female, Gene Fusion genetics, Genotype, Glial Fibrillary Acidic Protein metabolism, Humans, Infant, Male, NF-kappa B metabolism, Neural Cell Adhesion Molecule L1 metabolism, Nuclear Receptor Coactivator 1 genetics, Nuclear Receptor Coactivator 2 genetics, Phenotype, Supratentorial Neoplasms classification, Supratentorial Neoplasms metabolism, Supratentorial Neoplasms pathology, Trans-Activators genetics, Transcription Factor RelA genetics, Tumor Suppressor Proteins genetics, Young Adult, Ependymoma genetics, Proteins genetics, Supratentorial Neoplasms genetics
- Abstract
The cIMPACT-NOW Update 7 has replaced the WHO nosology of "ependymoma, RELA fusion positive" by "Supratentorial-ependymoma, C11orf95-fusion positive". This modification reinforces the idea that supratentorial-ependymomas exhibiting fusion that implicates the C11orf95 (now called ZFTA) gene with or without the RELA gene, represent the same histomolecular entity. A hot off the press molecular study has identified distinct clusters of the DNA methylation class of ZFTA fusion-positive tumors. Interestingly, clusters 2 and 4 comprised tumors of different morphologies, with various ZFTA fusions without involvement of RELA. In this paper, we present a detailed series of thirteen cases of non-RELA ZFTA-fused supratentorial tumors with extensive clinical, radiological, histopathological, immunohistochemical, genetic and epigenetic (DNA methylation profiling) characterization. Contrary to the age of onset and MRI aspects similar to RELA fusion-positive EPN, we noted significant histopathological heterogeneity (pleomorphic xanthoastrocytoma-like, astroblastoma-like, ependymoma-like, and even sarcoma-like patterns) in this cohort. Immunophenotypically, these NFκB immunonegative tumors expressed GFAP variably, but EMA constantly and L1CAM frequently. Different gene partners were fused with ZFTA: NCOA1/2, MAML2 and for the first time MN1. These tumors had epigenetic homologies within the DNA methylation class of ependymomas-RELA and were classified as satellite clusters 2 and 4. Cluster 2 (n = 9) corresponded to tumors with classic ependymal histological features (n = 4) but also had astroblastic features (n = 5). Various types of ZFTA fusions were associated with cluster 2, but as in the original report, ZFTA:MAML2 fusion was frequent. Cluster 4 was enriched with sarcoma-like tumors. Moreover, we reported a novel anatomy of three ZFTA:NCOA1/2 fusions with only 1 ZFTA zinc finger domain in the putative fusion protein, whereas all previously reported non-RELA ZFTA fusions have 4 ZFTA zinc fingers. All three cases presented a sarcoma-like morphology. This genotype/phenotype association requires further studies for confirmation. Our series is the first to extensively characterize this new subset of supratentorial ZFTA-fused ependymomas and highlights the usefulness of ZFTA FISH analysis to confirm the existence of a rearrangement without RELA abnormality., (© 2021. The Author(s).)
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- 2021
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19. Vesiculopustular Eruption in a Newborn with Down's Syndrome: A Quiz.
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Raffy L, Elalouf C, Machet MC, and Maruani A
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- Humans, Infant, Newborn, Down Syndrome complications, Down Syndrome diagnosis
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- 2021
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20. Clinicopathologic features of infection-related glomerulonephritis with IgA deposits: a French Nationwide study.
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Miquelestorena-Standley E, Jaulerry C, Machet MC, Rabot N, Barbet C, Hummel A, Karras A, Garrouste C, Crepin T, Ducloux D, Cousin M, Albert C, Rivalan J, Cornec-Le Gall E, Pourreau F, Deltombe C, Nochy D, Szlavik N, Felix S, Croué A, Buob D, Rioux-Leclerc N, Doucet L, Goujon JM, Renaudin K, Blanchard E, Eymieux S, Rabant M, and Halimi JM
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- Adolescent, Adult, Aged, Aged, 80 and over, Bacterial Infections complications, Child, Child, Preschool, Female, France, Humans, Infant, Male, Middle Aged, Retrospective Studies, Young Adult, Glomerulonephritis, IGA microbiology, Glomerulonephritis, IGA pathology, Staphylococcal Infections complications
- Abstract
Background: Infection-related glomerulonephritis with IgA deposits (IRGN-IgA) is a rare disease but it is increasingly reported in the literature. Data regarding epidemiology and outcome are lacking, especially in Europe. We aimed to assess the clinical, pathologic and outcome data of IRGN-IgA., Methods: Clinical and outcome data from patients from 11 French centers over the 2007-2017 period were collected retrospectively. We reviewed pathologic patterns and immunofluorescence of renal biopsies and evaluated C4d expression in IRGN-IgA. We analyzed the correlation between histological presentation and outcome., Results: Twenty-seven patients (23 men, mean age: 62 ± 15 years) were included. Twenty-one (78%) had Staphylococcus aureus infection and twelve (44%) were diabetic. At the time of biopsy, 95.2% had haematuria, 48.1% had a serum creatinine level of > 4 mg/dL, and 16% had hypocomplementemia. The most common pathologic presentation included mesangial (88.9%) and endocapillary proliferative glomerulonephritis (88.9%) with interstitial fibrosis and tubular atrophy (IF/TA) (85.1%). Diffuse and global glomerular C4d expression was found in 17.8%, mostly in biopsies with acute or subacute patterns, and was associated with a short delay between infection and renal biopsy compared to segmental and focal staining. After median follow-up of 13.2 months, 23.1% died, 46.2% had persistent renal dysfunction and 15.4% reached end-stage renal disease. Renal outcome was correlated to IF/TA severity., Conclusions: Infection-related glomerulonephritis with IgA deposits is usually associated with Staphylococcus infections and mainly affects adult men. This entity has a poor prognosis which is correlated to interstitial fibrosis and tubular atrophy severity.
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- 2020
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21. Prevention of parvovirus B19-induced repetitive acute kidney failure by subcutaneous immunoglobulins.
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Bailly E, Stefic K, Gatault P, Miquelestorena-Standley E, Machet MC, Barbet C, Barin F, and Halimi JM
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- Acute Kidney Injury virology, Cryoglobulinemia prevention & control, Cryoglobulinemia virology, DNA, Viral analysis, Glomerulonephritis prevention & control, Glomerulonephritis virology, Humans, Injections, Subcutaneous, Male, Middle Aged, Off-Label Use, Parvoviridae Infections virology, Recurrence, Viral Load, Acute Kidney Injury prevention & control, Immunoglobulins administration & dosage, Parvoviridae Infections prevention & control, Parvovirus B19, Human isolation & purification
- Abstract
Human parvovirus B19 has been associated with various cases of kidney injuries with different glomerular phenotypes. In immunocompromised individuals, insufficient production of neutralizing antibodies can lead to chronic PVB19 carriage and manifestations. However, PVB19 DNA has been detected in bone marrow and peripheral blood for months or years in seemingly immunocompetent individuals, despite the presence of neutralizing antibodies. We report here PVB19-induced recurrent anuric acute kidney failures in a 57-year-old man over a 7-year period with persistent PVB19 infection and then PVB19-associated cryoglobulinemia. Acute renal failures were preceded by influenza-like syndrome associated with arthralgia, skin rash, and low-grade fever. Serum, bone marrow, renal, and digestive PVB19 replication was found in the different episodes. Endocapillary proliferative glomerulonephritis evolved into membranoproliferative glomerulonephritis. Complete renal recovery occurred after each bout. Off-label subcutaneous immunoglobulin therapy resulted in disappearance of blood and bone marrow PVB19 viral load and stopped the glomerulonephritis recurrence. Subcutaneous immunoglobulin therapy withdrawal resulted in renal relapse with cryoglobulin-associated manifestations., (© 2019 Société Française de Pharmacologie et de Thérapeutique.)
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- 2020
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22. The Presence of Renal IgG Deposits in Necrotizing Crescentic Glomerulonephritis Associated with ANCA Is Not Related to Worse Renal Clinical Outcomes.
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Dudreuilh C, Fakhouri F, Vigneau C, Augusto JF, Machet MC, Rabot N, Chapal M, Charpy V, Barbet C, Büchler M, Halimi JM, and Gatault P
- Abstract
Introduction: Classical pauci-immune necrotizing crescentic glomerulonephritis (CGN) associated with antineutrophil cytoplasmic autoantibodies (ANCA) is characterized by the absence of renal immunoglobulin (Ig) deposits. However, IgG deposits can sometimes be present. We wanted to assess whether necrotizing CGN with IgG deposits is associated with a more severe presentation and outcome than necrotizing CGN without IgG deposits., Methods: Between November 2008 and August 2013, we retrospectively identified 158 patients from four centers who had necrotizing CGN due to primary ANCA-associated systemic vasculitis. Glomerular IgG deposits were found in 18 (11%) patients (group 1). For each patient in group 1, we selected 2 patients with classical pauci-immune necrotizing CGN with the nearest date of diagnosis in the same center (group 2, n = 36). We assessed clinical, biological, and pathological characteristics in both groups., Results: Baseline characteristics were similar in both groups, and most patients had ANCA-associated vasculitis with antibodies to myeloperoxidase (74%). Deposits displayed moderate to strong staining in 9 patients. As compared with group 2, group 1 exhibited a higher frequency of interstitial fibrosis/tubular atrophy lesions ( p = 0.024) and lower frequency of acute tubular necrosis ( p = 0.046). Nevertheless, after a mean follow-up of 30 and 26 months for group 1 and group 2, respectively, IgG deposits did not affect the renal prognosis or probability of relapse. Finally, the groups did not differ in renal or patient survival., Conclusions: IgG deposits, detected in 11% of patients with ANCA-associated necrotizing CGN, did not affect renal or patient outcomes., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2019 by S. Karger AG, Basel.)
- Published
- 2020
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23. Correction to: Hormonal receptors in cutaneous vascular malformations: 51 cases.
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Ventéjou S, Machet MC, Herbreteau D, le Touze A, Lorette G, and Maruani A
- Abstract
The original version of this article contained error. Table 2 was shown in the wrong version, thus corrected table is shown in this article.
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- 2019
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24. Multiple "halo nevi" occurring during pembrolizumab treatment for metastatic melanoma.
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Nicolétis-Lombart I, Kervarrec T, Zaragoza J, Machet MC, and Samimi M
- Subjects
- Adult, Chemotherapy, Adjuvant adverse effects, Chemotherapy, Adjuvant methods, Female, Humans, Lymph Node Excision, Lymphatic Metastasis, Melanoma secondary, Neoplasm Recurrence, Local drug therapy, Neoplasm Recurrence, Local pathology, Nevus, Halo immunology, Nevus, Halo pathology, Skin drug effects, Skin immunology, Skin pathology, Skin Neoplasms pathology, Antibodies, Monoclonal, Humanized adverse effects, Antineoplastic Agents, Immunological adverse effects, Melanoma therapy, Nevus, Halo chemically induced, Skin Neoplasms therapy
- Published
- 2019
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25. Hormonal receptors in cutaneous vascular malformations: 51 cases.
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Ventéjou S, Machet MC, Herbreteau D, le Touze A, Lorette G, and Maruani A
- Subjects
- Arteriovenous Malformations diagnosis, Female, Humans, Immunohistochemistry methods, Infant, Male, Middle Aged, Receptors, Estrogen metabolism, Vascular Malformations diagnosis, Vascular Malformations metabolism, Arteriovenous Malformations pathology, Receptors, Androgen metabolism, Receptors, Progesterone metabolism, Vascular Malformations pathology
- Abstract
Vascular malformations (VMs) are rare congenital anomalies that develop during embryogenesis in different types of vessels. Several triggering factors of cutaneous VMs include trauma, infections, or hormonal changes. We investigated the expression of hormonal receptors (androgen, estrogen, progesterone) in tissue samples of well-characterized VMs. A secondary objective was to identify self-reported triggering factors for these VMs, including hormonal changes, in the cohort of patients. We included patients with VM samples obtained in the tertiary center for vascular anomalies of the University Hospital Center of Tours, France, from January 1, 2007, to August 1, 2018. Immunohistochemistry was used to detect the expression of hormonal receptors (estrogen, progesterone, androgens). We obtained 51 samples from 51 patients: 13 cystic lymphatic malformations (CLMs), 16 venous malformations (VeMs), 11 arteriovenous malformations (AVMs), 4 combined VMs, 4 PIK3CA-related overgrowth spectrum, 1 Parkes-Weber syndrome, 1 Gorham syndrome, and 1 multiple lymphangioendotheliomatosis with thrombopenia. In total, 38 (74.5%) samples were positive for androgen receptor: 11 (84.6%) CLMs, 12 (75.0%) VeMs, 8 (72.2%) AVMs, and 7/11 (63.5%) other samples. All samples were negative for estrogen and progesterone receptors. Triggering factors were self-reported in 7 cases and were most frequently hormonal changes (n = 6, 18.2%). Hormonal triggers were frequent in AVMs (n = 4). Among patients with identified hormonal triggers, VM samples were positive for androgen receptor in 3 and negative in 3. Three-quarters of our VM samples expressed androgen receptor, and most CLM, VeM, and AVM samples were positive. Hormonal triggers were identified in 6/33 patients, mostly with AVMs.
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- 2019
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26. Novel KHDRBS1-NTRK3 rearrangement in a congenital pediatric CD34-positive skin tumor: a case report.
- Author
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Tallegas M, Fraitag S, Binet A, Orbach D, Jourdain A, Reynaud S, Pierron G, Machet MC, and Maruani A
- Subjects
- Biomarkers, Tumor immunology, Biopsy, Diagnosis, Differential, Female, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Infant, Magnetic Resonance Imaging, Molecular Diagnostic Techniques, Phenotype, Predictive Value of Tests, Skin Neoplasms immunology, Skin Neoplasms pathology, Adaptor Proteins, Signal Transducing genetics, Antigens, CD34 immunology, Biomarkers, Tumor genetics, DNA-Binding Proteins genetics, Gene Fusion, Gene Rearrangement, RNA-Binding Proteins genetics, Receptor, trkC genetics, Skin Neoplasms genetics
- Abstract
Cutaneous spindle-cell neoplasms in adults as well as children represent a frequent dilemma for pathologists. Along this neoplasm spectrum, the differential diagnosis with CD34-positive proliferations can be challenging, particularly concerning neoplasms of fibrohistiocytic and fibroblastic lineages. In children, cutaneous and superficial soft-tissue neoplasms with CD34-positive spindle cells are associated with benign to intermediate malignancy potential and include lipofibromatosis, plaque-like CD34-positive dermal fibroma, fibroblastic connective tissue nevus, and congenital dermatofibrosarcoma protuberans. Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. We report a case of congenital CD34-positive dermohypodermal spindle-cell neoplasm occurring in a female infant and harboring a novel KHDRBS1-NTRK3 fusion. This tumor could belong to a new subgroup of pediatric cutaneous spindle-cell neoplasms, be an atypical presentation of a plaque-like CD34-positive dermal fibroma, of a fibroblastic connective tissue nevus, or represent a dermatofibrosarcoma protuberans with an alternative gene rearrangement.
- Published
- 2019
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27. Erythematous Papular Lesions on the Neck: A Quiz.
- Author
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Mouchard A, Tallegas M, Machet MC, Machet L, and Cornillier H
- Subjects
- Administration, Cutaneous, Adolescent, Dermatologic Agents administration & dosage, Erythema drug therapy, Erythema pathology, Humans, Male, Neck, Nicotinic Acids administration & dosage, Skin drug effects, Skin Diseases drug therapy, Skin Diseases pathology, Skin Diseases, Vesiculobullous drug therapy, Skin Diseases, Vesiculobullous pathology, Treatment Outcome, Erythema diagnosis, Skin pathology, Skin Diseases diagnosis, Skin Diseases, Vesiculobullous diagnosis
- Published
- 2018
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28. Cardiovascular magnetic resonance in heart transplant patients: diagnostic value of quantitative tissue markers: T2 mapping and extracellular volume fraction, for acute rejection diagnosis.
- Author
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Vermes E, Pantaléon C, Auvet A, Cazeneuve N, Machet MC, Delhommais A, Bourguignon T, Aupart M, and Brunereau L
- Subjects
- Acute Disease, Adult, Biopsy, Case-Control Studies, Female, Graft Rejection immunology, Graft Rejection pathology, Humans, Male, Middle Aged, Predictive Value of Tests, Prospective Studies, Reproducibility of Results, Risk Factors, Treatment Outcome, Graft Rejection diagnostic imaging, Heart Transplantation adverse effects, Magnetic Resonance Imaging, Myocardium pathology
- Abstract
Background: The diagnosis of acute rejection in cardiac transplant recipients requires invasive technique with endomyocardial biopsy (EMB) which has risks and limitations. Cardiovascular magnetic resonance imaging (CMR) with T2 and T1 mapping is a promising technique for characterizing myocardial tissue. The purpose of the study was to evaluate T2, T1 and extracellular volume fraction (ECV) quantification as novel tissue markers to diagnose acute rejection., Methods: CMR was prospectively performed in 20 heart transplant patients providing 31 comparisons EMB-CMR. CMR was performed close to EMB. Images were acquired on a 1.5 Tesla scanner including T2 mapping (T2 prepared balanced steady state free precession) and T1 mapping (modified Look-Locker inversion recovery sequences: MOLLI) at basal, mid and apical level in short axis view. Global and segmental T2 and T1 values were measured before and 15 min (for T1 mapping) after contrast administration., Results: Acute rejection was diagnosed in seven patients: six cellular rejections (4 grade IR, 2 grade 2R) and one antibody mediated rejection. Patients with acute rejection had significantly higher global T2 values at 3 levels: 58.5 ms [55.0-60.3] vs 51.3 ms [49.5-55.2] (p = 0.007) at basal; 55.7 ms [54.0-59.7] vs 51.8 ms [50.1-53.6] (p = 0.002) at median and 58.2 ms [54.0-63.7] vs 53.6 ms [50.8-57.4] (p = 0.026) at apical level. The area under the curve (AUC) for each level was 0.83, 0.79 and 0.78 respectively. Patients with acute rejection had significantly higher ECV at basal level: 34.2% [32.8-37.4] vs 27.4% [24.6-30.6] (p = 0.006). The AUC for basal level was 0.84. The sensitivity, specificity and diagnosis accuracy for basal T2 (cut off: 57.7 ms) were 71, 96 and 90% respectively; and for basal ECV: (cut off 32%) were 86, 85 and 85% respectively. Combining basal T2 and basal ECV allowed diagnosing all acute rejection and avoiding 63% of EMB., Conclusions: In heart transplant patients, a combined CMR approach using T2 mapping and ECV quantification provides a high diagnostic accuracy for acute rejection diagnosis and could potentially decrease the number of routine EMB.
- Published
- 2018
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29. Author Correction: Synergistic effect of human Bone Morphogenic Protein-2 and Mesenchymal Stromal Cells on chronic wounds through hypoxia-inducible factor-1 α induction.
- Author
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François S, Eder V, Belmokhtar K, Machet MC, Douay L, Gorin NC, Benderitter M, and Chapel A
- Abstract
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
- Published
- 2018
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30. Dasatinib-associated follicular lymphoid hyperplasia: First pediatric case report and literature review.
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Bouquet E, Jourdain A, Machet MC, Beau-Salinas F, and Jonville-Béra AP
- Subjects
- Adolescent, Humans, Hyperplasia chemically induced, Male, Antineoplastic Agents adverse effects, Dasatinib adverse effects, Leukemia, Myelogenous, Chronic, BCR-ABL Positive drug therapy, Lymphadenopathy chemically induced
- Published
- 2017
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31. Synergistic effect of human Bone Morphogenic Protein-2 and Mesenchymal Stromal Cells on chronic wounds through hypoxia-inducible factor-1 α induction.
- Author
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François S, Eder V, Belmokhtar K, Machet MC, Douay L, Gorin NC, Benderitter M, and Chapel A
- Abstract
Chronic skin ulcers and burns require advanced treatments. Mesenchymal Stromal Cells (MSCs) are effective in treating these pathologies. Bone Morphogenic Protein-2 (BMP-2) is known to enhance angiogenesis. We investigated whether recombinant human hBMP-2 potentiates the effect of MSCs on wound healing. Severe ulceration was induced in rats by irradiation and treated by co-infusion of MSCs with hBMP-2 into the ulcerated area which accelerated wound healing. Potentiation of the effect of MSCs by hBMP-2 on endothelial repair improved skin healing. HBMP-2 and MSCs synergistically, in a supra additive or enhanced manner, renewed tissue structures, resulting in normalization of the epidermis, hair follicles, sebaceous glands, collagen fibre density, and blood vessels. Co-localization of MSCs with CD31 + cells suggests recruitment of endothelial cells at the site of injection. HBMP-2 and MSCs enhanced angiogenesis and induced micro-vessel formation in the dermis where hair follicles were regenerated. HBMP-2 acts by causing hypoxia-inducible factor-1 α (HIF-1α) expression which impacts endothelial tube formation and skin repair. This effect is abolished by siRNA. These results propose that new strategies adding cytokines to MSCs should be evaluated for treating radiation-induced dermatitis, burns, and chronic ulcers in humans.
- Published
- 2017
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32. [Eosinophilic esophagitis in children: Evaluation of practices through a multicenter study].
- Author
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Vigier C, Henno S, Willot S, Machet MC, Cagnard B, Breton E, Chaillou E, Dabadie A, Rochefort-Morel C, and Bridoux-Henno L
- Subjects
- Adolescent, Biopsy, Child, Child, Preschool, Diagnosis, Differential, Eosinophilic Esophagitis immunology, Eosinophilic Esophagitis pathology, Eosinophils immunology, Eosinophils pathology, Esophageal Mucosa immunology, Esophageal Mucosa pathology, Female, France, Humans, Infant, Leukocyte Count, Male, Retrospective Studies, Eosinophilic Esophagitis diagnosis, Eosinophilic Esophagitis therapy
- Abstract
Eosinophilic esophagitis (EE) is a recent pathology defined by abnormal immune response of the esophageal mucosa to exogenous allergens, leading to chronic mucosa infiltration by 15 eosinophils per High-Power-Field (Eos/HPF). The present retrospective study was designed to assess the hospital care for children suffering from EE in several hospitals in western France in order to highlight discrepancies and improve future care. Twenty-eight children ranging from 1.5 months to 17 years old were included in the study. Episodes of food blockage were the most frequently reported symptoms (46 %). A ratio of 29 % of EE patients reported macroscopically normal endoscopy; diagnosis was then established upon histological anomalies found in biopsies. The mean eosinophil count was 72.4 Eos/HPF. Centralized immunohistochemical staining revealed the presence of IgG4-responding plasma cells in 76.5 % of patients, as well as IgG4 intraepithelial degranulation in 14 % of them. The evaluation of the treatment plan showed important inter-center discrepancies with only 43 % of patients receiving endoscopic reevaluation. This study objectively highlights heterogeneities in diagnosis and care provided to children suffering from EE. Therefore, improving the consistency of practices seems to be crucial to optimize the patients' outcome. The role of IgG4 as a new diagnosis marker remains to be clarified., (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)
- Published
- 2017
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33. Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature.
- Author
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Costa J, Klijanienko J, Desjardins L, Cassoux N, Machet MC, and Pacquement H
- Subjects
- Biopsy, Fine-Needle, Child, Preschool, Eye Neoplasms secondary, Female, Humans, Eye Neoplasms pathology, Pulmonary Blastoma pathology
- Abstract
Pleuropulmonary blastoma (PPB) is a rare primitive intrathoracic malignant neoplasm that occurs almost exclusively in children and adolescents. PPB is classified into three types according to the presence of cystic and solid areas. We report a case of PPB with an intraocular metastasis diagnosed by fine needle aspiration (FNA): 3-year-old female was treated for type II PPB by neoadjuvant chemotherapy and surgery. Four years later, she presented with an intraocular lesion. To differentiate between metastasis or other malignancy, a transcleral FNA was performed and showed two cellular populations represented by roundish malignant cells and spindle-shaped cells. The patient was treated with chemotherapy and diode laser ablation. A year later, the patient had enucleation and rare residual cells were found on the histological specimen. Patient remains disease-free 66 months after the last surgical treatment. Diagn. Cytopathol. 2017;45:156-160. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)
- Published
- 2017
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34. Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling.
- Author
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Figarella-Branger D, Lechapt-Zalcman E, Tabouret E, Jünger S, de Paula AM, Bouvier C, Colin C, Jouvet A, Forest F, Andreiuolo F, Quintin-Roue I, Machet MC, Heitzmann A, Milin S, Sevestre H, Godfraind C, Labrousse F, Metellus P, Scavarda D, and Pietsch T
- Subjects
- Adolescent, Adult, Aged, Brain Neoplasms mortality, Capillaries pathology, Child, Child, Preschool, Disease-Free Survival, Ependymoma mortality, Humans, Infant, Male, Middle Aged, Young Adult, Brain Neoplasms metabolism, Brain Neoplasms pathology, Ependymoma metabolism, NF-kappa B metabolism, Signal Transduction genetics
- Abstract
Background: Clear cell ependymoma is one of the 4 main histological subtypes of ependymomas defined by the World Health Organization (WHO) classification of tumors of the CNS. DNA methylation profiling can distinguish 4 subgroups of intracranial ependymomas, including supratentorial (ST) ependymomas with Yes-associated protein 1 fusion (YAP1), ST ependymomas with fusion of v-rel avian reticuloendotheliosis viral oncogene homolog A (RELA), posterior fossa ependymomas with balanced genome, and posterior fossa ependymomas with chromosomal instability. In addition, trisomy 19 is a genomic hallmark of ependymomas with rich branching capillaries. However, the relation of histological and molecular subtypes is unclear., Methods: Here, we report a series of 20 ependymomas histologically defined by clear cells and branching capillaries., Results: We observed a strong male predominance. Median age at surgery was 10.4 years (range, 0.8-68.4). All cases were ST, cortical, contrast enhancing, and most often frontal, cystic, and calcified. All tumors qualified as WHO grade III. Some of them exhibited neuronal differentiation. Trisomy 19 was recorded in 13 cases. All samples strongly accumulated p65RelA protein within nuclei, indicating pathological activation of the nuclear factor-kappaB pathway. We identified causative C11ORF95-RELA fusion in almost all cases. Median progression-free survival and overall survival were 11.4 years (95% CI: 5.1-17.8) and not reached, respectively., Conclusion: ST clear cell ependymomas with branching capillaries display characteristic clinicopathological features and are associated with pathological activation of nuclear factor-kappaB signaling, which may indicate a potential novel target for therapy in these patients., (© The Author(s) 2016. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
- Published
- 2016
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35. SMARCA4-Mutated Atypical Teratoid/Rhabdoid Tumor with Retained BRG1 Expression.
- Author
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Masliah-Planchon J, Machet MC, Fréneaux P, Jourdain A, Mortemousque I, Raïs KA, Ballet S, Jouvet A, Figarella-Branger D, Delattre O, and Bourdeaut F
- Subjects
- Child, Preschool, Female, Humans, Infratentorial Neoplasms diagnosis, Rhabdoid Tumor diagnosis, Teratoma diagnosis, DNA Helicases analysis, DNA Helicases genetics, Infratentorial Neoplasms genetics, Mutation, Nuclear Proteins analysis, Nuclear Proteins genetics, Rhabdoid Tumor genetics, Teratoma genetics, Transcription Factors analysis, Transcription Factors genetics
- Published
- 2016
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36. [Dual localisation of ischaemic fasciitis with local relapse at one site].
- Author
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Kervarrec T, Lagier L, Machet MC, and Machet L
- Subjects
- Back, Biopsy, Capillaries, Fasciitis diagnostic imaging, Fasciitis pathology, Fibroblasts pathology, Fibroma pathology, Fibroma surgery, Humans, Ischemia pathology, Magnetic Resonance Imaging, Middle Aged, Recurrence, Scapula, Skin Diseases diagnostic imaging, Skin Diseases pathology, Fasciitis surgery, Skin Diseases surgery
- Abstract
Introduction: Ischaemic fasciitis (IF) is a rare pseudosarcomatous proliferation initially described on the pressure points of long-term bedridden patients. Healing is the rule after surgical excision. No multifocal localisations have been reported to date. Herein, we describe the case of a patient with FI affecting two sites and having recurred at one of them., Observation: A 50-year-old woman with scoliosis and mental retardation consulted for a hard skin lesion next to her right scapula. Elastofibroma was diagnosed on the basis of a surgical biopsy sample. Early local recurrence led to a second resection four months later. Histologically, central fibrinoid necrosis was observed, surrounded by collagenous tissue containing occasionally atypical fibroblasts and numerous capillaries. The diagnosis of ischaemic fasciitis was made by a national expert. Six months later, we observed a 13-cm purplish erythematous infiltrated mass with a 6-cm ulceration at the surgical site. A second 6-cm non-ulcerated indurated purplish lesion was visible next to the right greater trochanter. The scan showed deep soft-tissue infiltration with subfascial extension and contact with the greater trochanter. Superficial biopsies of both lesions showed only an appearance of granulation tissue. MRI performed after five months showed an extension of lesions at the two sites with an appearance evocative of ischaemic fasciitis. Surgical excision was refused by the patient and her family., Discussion: We report a rare case of ischaemic fasciitis at two separate sites with local relapse after surgical excision., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)
- Published
- 2016
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37. Cutaneous Rosai-Dorfman Disease Located on the Breast: Rapid Effectiveness of Methotrexate After Failure of Topical Corticosteroids, Acitretin and Thalidomide.
- Author
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Nadal M, Kervarrec T, Machet MC, Petrella T, and Machet L
- Subjects
- Acitretin therapeutic use, Administration, Cutaneous, Aged, Anti-Inflammatory Agents administration & dosage, Clobetasol administration & dosage, Female, Humans, Immunosuppressive Agents therapeutic use, Keratolytic Agents therapeutic use, Retreatment, Thalidomide therapeutic use, Treatment Failure, Breast Diseases drug therapy, Dermatologic Agents therapeutic use, Histiocytosis, Sinus drug therapy, Methotrexate therapeutic use, Skin Diseases drug therapy
- Published
- 2015
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38. CNI withdrawal for post-transplant lymphoproliferative disorders in kidney transplant is an independent risk factor for graft failure and mortality.
- Author
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Rabot N, Büchler M, Foucher Y, Moreau A, Debiais C, Machet MC, Kessler M, Morelon E, Thierry A, Legendre C, Rivalan J, Kamar N, and Dantal J
- Subjects
- Adult, Aged, Antibodies, Monoclonal, Murine-Derived therapeutic use, Antineoplastic Agents therapeutic use, Calcineurin Inhibitors administration & dosage, Calcineurin Inhibitors therapeutic use, Creatine blood, Drug Substitution, Epstein-Barr Virus Infections mortality, Epstein-Barr Virus Infections pathology, Epstein-Barr Virus Infections therapy, Female, France epidemiology, Glomerular Filtration Rate, Graft Rejection epidemiology, Graft Rejection etiology, Graft Rejection prevention & control, Graft Survival, Humans, Immunocompromised Host, Immunosuppressive Agents administration & dosage, Immunosuppressive Agents therapeutic use, Kidney physiopathology, Lymphoproliferative Disorders mortality, Lymphoproliferative Disorders pathology, Lymphoproliferative Disorders therapy, Male, Middle Aged, Pancreas Transplantation, Postoperative Complications mortality, Postoperative Complications pathology, Postoperative Complications therapy, Proportional Hazards Models, Radiotherapy, Adjuvant, Renal Dialysis, Renal Insufficiency etiology, Renal Insufficiency mortality, Renal Insufficiency therapy, Retrospective Studies, Risk Factors, Rituximab, Young Adult, Calcineurin Inhibitors adverse effects, Epstein-Barr Virus Infections etiology, Immunosuppressive Agents adverse effects, Kidney Transplantation, Lymphoproliferative Disorders etiology, Postoperative Complications etiology
- Abstract
Post-transplantation lymphoproliferative disorders (PTLD) are associated with poor patient and graft survival. The risk of rejection and subsequent graft loss are increased by the reduction of immunosuppression therapy, the cornerstone of PTLD treatment. This multicentre, retrospective, nonrandomized cohort study includes 104 adults who developed PTLD after renal or simultaneous renal/pancreatic transplantation between 1990 and 2007. It examines the effect of calcineurin inhibitor (CNI) withdrawal on long-term graft and patient survival. At 10 years postonset of PTLD, the Kaplan-Meier graft loss rate was 43.9% and graft loss or death with functioning graft was 64.4%. Cox multivariate analysis determined risk factors of graft loss as PTLD stage greater than I-II and CNI withdrawal, and for graft loss and mortality, these remained risk factors along with age over 60 years. Type and location of PTLD, year of diagnosis, and chemotherapy regime were not independent risk factors. Multivariate analysis determined CNI withdrawal as the most important risk factor for graft loss (HR = 3.07, CI 95%: 1.04-9.09; P = 0.04) and death (HR: 4.00, CI 95%: 1.77-9.04; P < 0.001). While long-term stable renal function after definitive CNI withdrawal for PTLD has been reported, this review determined that withdrawal is associated with reduced graft and patient survival., (© 2014 Steunstichting ESOT.)
- Published
- 2014
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39. Locoregional multiple nodular panniculitis induced by Pseudomonas aeruginosa without septicemia: three cases and focus on predisposing factors.
- Author
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Roriz M, Maruani A, Le Bidre E, Machet MC, Machet L, and Samimi M
- Subjects
- Aged, Aged, 80 and over, Causality, Female, Humans, Male, Middle Aged, Panniculitis epidemiology, Sepsis, Panniculitis microbiology, Panniculitis pathology, Pseudomonas Infections epidemiology, Pseudomonas aeruginosa
- Abstract
Importance: Pseudomonas aeruginosa-induced locoregional multiple nodular panniculitis without septicemia is an underreported condition, with only 3 cases reported to date. We report 3 new cases of P aeruginosa-induced multiple nodular panniculitis without septicemia and describe common features among all 6 cases, thus providing the first description, to our knowledge, of the natural history and potential predisposing factors for this entity., Observations: Median age of the 6 patients was 74 years (range, 54-84 years). Patients had inflammatory nodules on a lower limb (n = 6) that were unilateral (n = 6) and had no fever (n = 5). Blood cultures were negative (n = 5). Skin biopsy specimens revealed panniculitis (n = 5), with skin cultures positive for P aeruginosa (n = 6). Skin nodules resolved with systemic antibiotics (n = 5). The comorbidities recorded were type 1 or 2 diabetes mellitus (n = 5), overweight (n = 3), and combined locoregional anatomical changes in the lower limbs (n = 5). Local skin injury, which constituted the portal entry, was present in all cases, especially leg ulcers (n = 3)., Conclusions and Relevance: We describe P aeruginosa-induced locoregional nodular panniculitis as a distinct entity. This should be investigated in elderly, diabetic, overweight patients with inflammatory nodules on a lower limb associated with locoregional anatomical changes and skin injury, with the optimal antibiotic regimen introduced as rapidly as possible.
- Published
- 2014
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40. Wide early ulceration of a livedoid infantile hemangioma of the gluteal area.
- Author
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Levy-Benamara M, Lorette G, Machet MC, Lulin J, Sirinelli D, and Maruani A
- Subjects
- Buttocks, Female, Humans, Infant, Skin Ulcer pathology, Hemangioma complications, Skin Neoplasms complications, Skin Ulcer etiology
- Published
- 2014
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41. Pemphigus induced by radiotherapy for breast cancer: clinical, immunological and histological features of one case with antidesmoglein immunostaining.
- Author
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Thimon S, Machet L, Machet MC, Samimi M, and Maruani A
- Subjects
- Antibodies analysis, Desmoglein 1 immunology, Female, Humans, Middle Aged, Pemphigus immunology, Pemphigus pathology, Radiotherapy adverse effects, Staining and Labeling, Breast Neoplasms radiotherapy, Pemphigus etiology
- Published
- 2014
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42. Parameatal cyst in a 4-year-old boy.
- Author
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Lorette G, Machet MC, and Maruani A
- Subjects
- Child, Preschool, Cysts diagnosis, Cysts surgery, Humans, Male, Urogenital Abnormalities surgery, Cysts congenital, Urethra abnormalities, Urogenital Abnormalities pathology
- Abstract
Unlabelled: A 4-year-old boy presented a translucent cyst on the left lateral side of the urethral meatus. The lesion was excised. Histological examination showed features of a cystic lesion within the dermis surrounded by a thin epithelium of columnar cells with a round apical pole. Immunohistochemical staining was positive for pan-cytokeratins (AE-1/AE-3) and negative for actin. These findings led to a diagnosis of urethral parameatal cyst., In Conclusion: this entity is a rare congenital malformation and consists of a parameatal benign cyst occurring in prepubertal males. Treatment consists of complete resection of the cyst.
- Published
- 2013
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43. Intrascrotal lipoblastoma: a report of two cases and a review of the literature.
- Author
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Eyssartier E, Villemagne T, Maurin L, Machet MC, and Lardy H
- Subjects
- Genital Neoplasms, Male surgery, Humans, Infant, Lipoblastoma surgery, Male, Scrotum surgery, Genital Neoplasms, Male pathology, Lipoblastoma pathology, Orchiectomy, Scrotum pathology
- Abstract
Lipoblastomas are rare benign mesenchymal tumors of fetal white fat tissue appearing most commonly in children under 3 years of age, and usually affecting the extremities. Only nine cases of intrascrotal lipoblastoma have been reported to our knowledge, and although they are benign, in one case an orchidectomy was performed. We describe two new cases of intrascrotal lipoblastoma, and review the literature., (Copyright © 2013 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.)
- Published
- 2013
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44. [D-penicillamine-induced pemphigus: changes in anti-32-2B immunostaining patterns].
- Author
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Khashoggi M, Machet L, Perrinaud A, Brive D, Machet MC, Maruani A, and Vaillant L
- Subjects
- Acantholysis chemically induced, Acantholysis pathology, Autoantibodies analysis, Autoantigens immunology, Betamethasone analogs & derivatives, Betamethasone therapeutic use, Biopsy, Complement C3 analysis, Dermatologic Agents therapeutic use, Desmoglein 1 immunology, Desmoglein 3 immunology, Disease Progression, Drug Combinations, Fluorescent Antibody Technique, Direct, Humans, Immunoglobulin G analysis, Male, Middle Aged, Pemphigus diagnosis, Pemphigus drug therapy, Pemphigus immunology, Pemphigus pathology, Penicillamine immunology, Penicillamine therapeutic use, Recurrence, Scleroderma, Systemic drug therapy, Antibodies, Monoclonal, Autoantigens analysis, Desmoglein 1 analysis, Desmoglein 3 analysis, Pemphigus chemically induced, Penicillamine adverse effects
- Abstract
Background: It has been reported that D-penicillamine causes pemphigus that is typically superficial. Immunostaining with monoclonal anti-32-2B antibody targeting desmoglein 1 and 3 can help differentiate between drug-induced and classical auto-immune pemphigus. Absence of specific staining militates in favour of drug-induced pemphigus whilst positive staining suggests an auto-immune aetiology that is ongoing despite discontinuation of drug therapy., Patients and Methods: A 59-year-old male patient was referred for management of superficial pemphigus 1 year after starting D-penicillamine treatment for scleroderma. The diagnosis of pemphigus was confirmed histologically (intra-epidermal cleavage, acantholysis and perikeratinocytes, deposition of IgG and complement C3). Immunochemical staining with anti-32-2B antibody was initially normal, in keeping with drug-induced pemphigus. Despite discontinuation of D-penicillamine, pemphigus recurred in 2008. A further skin biopsy was undertaken and anti-32-2B staining was abnormal, which is consistent with auto-immune pemphigus., Discussion: Numerous cases of drug-induced pemphigus have been described in the literature. In approximately half of all cases, the pemphigus recedes after cessation of the causative drug. However, there have been no previous reports that changes over time in the immunostaining with anti-32-2B antibodies can mirror a change in form of pemphigus from a drug-induced type to an idiopathic type as well as the associated clinical feature of persistence after drug withdrawal., Conclusion: Normal staining with anti-32-2B antibody is associated with a favourable prognosis as regards resolution of drug-induced pemphigus. When, as in this case, status changes to abnormal staining, there is a risk that the pemphigus may become chronic despite discontinuation of therapy., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
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45. Visceral and mucosal involvement in neonatal haemangiomatosis.
- Author
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Maruani A, Piram M, Sirinelli D, Herbreteau D, Saliba E, Machet MC, and Lorette G
- Subjects
- Humans, Infant, Newborn, Retrospective Studies, Hemangioma pathology, Mucous Membrane pathology, Viscera pathology
- Abstract
Background: Two types of neonatal haemangiomatosis (NH) are distinguished: diffuse which is associated with a high rate of mortality linked to mucosal/visceral involvement, and benign., Objectives: First, this study aimed to examine the frequency of mucosal and visceral (especially hepatic) involvement in NH, according to skin extension, and second, it aimed to examine clinical, pathological (with glucose transporter 1 (GLUT-1) immunostaining), and imaging features of NH, including follow-up data., Methods: This was a descriptive retrospective study carried out in the University Hospital Center of Tours, France., Results: The study included 19 patients with cutaneous NH (number of skin haemangiomas ranging from 5 to >100). Mucosal involvement was observed in 32% of all cases (100% and 19% in diffuse and other cutaneous cases respectively) and hepatic involvement in 42% (67% and 38% respectively). The number of hepatic haemangiomas ranged from 1 to >10. Half of the hepatic haemangiomas cases exhibited increased hepatic arterial blood flow., Conclusions: Mucosal and hepatic involvement was frequent in cases with a high number of cutaneous haemangiomas (>100), but only frequency of mucosal involvement was statistically significant (P = 0.021)., (© 2011 The Authors. Journal of the European Academy of Dermatology and Venereology © 2011 European Academy of Dermatology and Venereology.)
- Published
- 2012
- Full Text
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46. [Toxoplasmic cyst and heart transplant: a case report of serological reactivation in an acute graft rejection context].
- Author
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Desoubeaux G, Perret-Gallix K, Machet MC, Sirinelli A, Bailly E, Van Langendonck N, and Chandenier J
- Subjects
- Acute Disease, Antibodies, Protozoan blood, Graft Rejection immunology, Graft Rejection parasitology, Heart Transplantation physiology, Humans, Lymphocyte Activation immunology, Lymphocyte Activation physiology, Male, Middle Aged, Serology, Tissue Donors, Toxoplasma immunology, Toxoplasma isolation & purification, Toxoplasma physiology, Toxoplasmosis blood, Toxoplasmosis immunology, Antibodies, Protozoan immunology, Graft Rejection etiology, Heart Transplantation adverse effects, Heart Transplantation immunology, Toxoplasmosis diagnosis, Toxoplasmosis etiology
- Abstract
We describe the case of a serological reactivation in a Toxoplasma-seropositive subject, following a cardiac transplantation transmitting cysts contained in the myocardial tissue. In a context of acute graft rejection, primary chemoprophylaxis enables to avoid onset of opportunistic toxoplasmosis, emerging with immunodepletion performed by high-dose steroids. Then, we draw up a brief review of the bibliographical literature about pathophysiological mechanisms of toxoplasmic reactivation in heart transplants.
- Published
- 2012
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47. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
- Author
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Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, and Gubler MC
- Subjects
- Angiotensinogen genetics, Animals, Disease Models, Animal, Genetic Association Studies, Humans, Kidney Tubules, Proximal abnormalities, Peptidyl-Dipeptidase A genetics, Receptor, Angiotensin, Type 1 genetics, Renin genetics, Urogenital Abnormalities diagnosis, Genes, Recessive, Mutation, Renin-Angiotensin System genetics, Urogenital Abnormalities genetics
- Abstract
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are novel and ACE mutations are the most frequent, observed in two-thirds of families (64.6%). The severity of the clinical course was similar whatever the mutated gene, which underlines the importance of a functional RAS in the maintenance of blood pressure and renal blood flow during the life of a human fetus. Renal hypoperfusion, whether genetic or secondary to a variety of diseases, precludes the normal development/ differentiation of proximal tubules. The identification of the disease on the basis of precise clinical and histological analyses and the characterization of the genetic defects allow genetic counseling and early prenatal diagnosis., (© 2011 Wiley Periodicals, Inc.)
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- 2012
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48. Sirolimus-based regimen is associated with decreased expression of glomerular vascular endothelial growth factor.
- Author
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Vuiblet V, Birembaut P, François A, Cordonnier C, Noel LH, Goujon JM, Paraf F, Machet MC, Girardot-Seguin S, Lebranchu Y, and Rieu P
- Subjects
- Adult, Cyclosporine therapeutic use, Female, Follow-Up Studies, Glomerular Filtration Rate, Humans, Image Processing, Computer-Assisted, Immunoenzyme Techniques, Kidney Transplantation adverse effects, Male, Middle Aged, Mycophenolic Acid analogs & derivatives, Mycophenolic Acid therapeutic use, Prognosis, Prospective Studies, Proteinuria etiology, Proteinuria metabolism, Immunosuppressive Agents adverse effects, Kidney Glomerulus metabolism, Kidney Glomerulus pathology, Proteinuria diagnosis, Sirolimus adverse effects, Vascular Endothelial Growth Factor A metabolism
- Abstract
Background: Sirolimus (SRL) is a potent immunosuppressant used in organ transplantation. It is known to decrease vascular endothelial growth factor (VEGF) synthesis, making it an interesting treatment option for transplant patients who develop Kaposi sarcoma or other malignant diseases. Because VEGF plays a key role in glomerular function and vascular remodelling, we determined the effect of SRL on renal VEGF expression., Methods: Using immunohistochemistry and quantitative image analysis, we examined renal VEGF expression in routine kidney biopsies performed at 1 year post-transplant in the CONCEPT study, a prospective randomized study comparing a cyclosporine (CsA)-based regimen to a SRL-based regimen in association with mycophenolate mofetil (MMF)., Results: A total of 74 patients were included in this substudy; 35 were randomized to the CsA group and 39 to the SRL group. Using continuous variables, the mean percentage of glomerular VEGF expression at Week 52 was significantly lower in the SRL group (14.7 ± 13%) compared to CsA group (21.2 ± 14%: P = 0.02). The percentage of glomerular VEGF expression at Week 52 was not influenced by recipient or donor age, gender, renal function, CsA dose, CsA blood level, SRL dose or SRL blood level. It was significantly lower in patients with a proteinuria over versus below 0.5 g/day (11.58 ± 7.9 versus 19.45 ± 15.53; P = 0.036)., Conclusions: There is emerging evidence that the VEGF system can play either a beneficial or a detrimental role depending on the specific pathologic situations. Therefore, modulating the renal VEGF axis by using an SRL-based regimen may influence the evolution of kidney injury associated with renal transplantation.
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- 2012
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49. Long-term impact of subclinical inflammation diagnosed by protocol biopsy one year after renal transplantation.
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Thierry A, Thervet E, Vuiblet V, Goujon JM, Machet MC, Noel LH, Rioux-Leclercq N, Comoz F, Cordonnier C, François A, Marcellin L, Girardot-Seguin S, and Touchard G
- Subjects
- Biopsy, Graft Survival, Humans, Immunosuppressive Agents administration & dosage, Inflammation pathology, Kidney physiopathology, Survival Analysis, Inflammation diagnosis, Kidney pathology, Kidney Transplantation
- Abstract
The long-term impact of subclinical acute rejection (SCAR) on renal graft function remains poorly understood. Furthermore, the interpretation of borderline lesions is difficult and their incidence is variable. The aim of this study was to analyze the characteristics of subclinical inflammation (SCI) in protocol biopsies performed 1-year after renal transplantation. SCI was defined as the presence of borderline lesions or SCAR according to the Banff 2005 classification. The patients included were a subpopulation of the CONCEPT study in which patients were randomized 3 months after transplantation to receive either sirolimus (SRL) or cyclosporine A (CsA) in combination with mycophenolate mofetil. At 1 year, we observed SCI in 37 of the 121 patients observed with an evaluable biopsy. The incidence was more frequent in the SRL group (SRL 45.2% vs. CsA 15.3%). At 30 months , SCI was associated with a significantly lower level of estimated glomerular filtration rate (mean MDRD 50.8 [±13.3] vs. 57.7 [±16.3] mL/min/1.73 m(2) , p = 0.035). In conclusion, SCI at 1-year posttransplantation is associated with worsening renal function and is more frequent in SRL-treated patients. Therefore, evaluation of SCI may be a valuable tool to allow the optimization of immunosuppressive regimens., (©2011 The Authors Journal compilation©2011 The American Society of Transplantation and the American Society of Transplant Surgeons.)
- Published
- 2011
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50. Melanoma lymph node metastasis occurring simultaneously with multifocal sarcoidosis affecting lymph nodes and the lung: a diagnostic pitfall.
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Chaigne B, Perrinaud A, Penaud A, Machet MC, Venel Y, Marchand-Adam S, and Machet L
- Subjects
- Adult, Humans, Lymph Nodes immunology, Lymphatic Metastasis, Male, Sarcoidosis immunology, Sarcoidosis, Pulmonary complications, Sarcoidosis, Pulmonary immunology, Sarcoidosis, Pulmonary pathology, Lymph Nodes pathology, Lymphatic Diseases complications, Lymphatic Diseases pathology, Melanoma pathology, Sarcoidosis complications, Sarcoidosis pathology, Skin Neoplasms complications, Skin Neoplasms pathology
- Published
- 2011
- Full Text
- View/download PDF
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