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Pasquet M.,Center Hospitalier University Toulouse Purpan | Bellanne-Chantelot C.,University Pierre and Marie Curie | Tavitian S.,Center Hospitalier University Toulouse Purpan | Tavitian S.,French Institute of Health and Medical Research | And 28 more authors.
Blood | Year: 2013

Congenital neutropenia is a group of genetic disorders that involve chronic neutropenia and susceptibility to infections. These neutropenias may be isolated or associated with immunologic defects or extra-hematopoietic manifestations. Complications may occur as infectious diseases, but also less frequently as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Recently, the transcription factor GATA2 has been identified as a new predisposing gene for familial AML/MDS. In the present study, we describe the initial identification by exome sequencing of a GATA2 R396Q mutation in a family with a history of chronic mild neutropenia evolving to AML and/or MDS. The subsequent analysis of the French Severe Chronic Neutropenia Registry allowed the identification of 6 additional pedigrees and 10 patients with 6 different and not previously reportedGATA2 mutations (R204X, E224X, R330X, A372T, M388V, and a complete deletion of the GATA2 locus). The frequent evolution to MDS and AML in these patients reveals the importance of screening GATA2 in chronic neutropenia associated with monocytopenia because of the frequent hematopoietic transformation, variable clinical expression at onset, and the need for aggressive therapy in patients with poor clinical outcome. © 2013 by The American Society of Hematology.

Mansat P.,Center Hospitalier University Toulouse Purpan | Bonnevialle N.,Center Hospitalier University Toulouse Purpan | Rongieres M.,Center Hospitalier University Toulouse Purpan | Mansat M.,Center Hospitalier University Toulouse Purpan | Bonnevialle P.,Center Hospitalier University Toulouse Purpan
Orthopaedics and Traumatology: Surgery and Research | Year: 2013

Introduction: Few series have evaluated the long-term results of total elbow arthroplasty (TEA). Materials and methods: Fifteen patients with a Coonrad/Morrey total elbow implant were reviewed with a minimum follow-up of 10 years. There were nine women and six men with a mean age of 55 years at surgery. The aetiology was rheumatoid arthritis in eight cases, post-traumatic arthritis in five, psoriatic arthritis in one, and sequelae of neonatal septic arthritis in one. The TEA was performed as primary surgery in ten cases and during a revision surgery in four. Results: At 136 months average follow-up (120-160), MEPS was 82. ±. 14 points (range 60-100) with a Quick DASH score of 41 points (range 13-83). Fourteen patients had no or slight pain and six had a functional range of motion. Elbow function was normal in eight of 15 patients. Radiolucent lines were found around the humerus in six cases (all of them incomplete) and around the ulnar component in eight (five of them complete) with loosening and migration of the ulnar stem occurring in two cases. Wear of the bushings was moderate in five cases and severe in two. There were ten complications with a revision needed in three cases. Revision-free survival rate for the implant was 100% at 5 years and 90% at 10 and 13 years. Discussion: The Coonrad/Morrey total elbow gives long-term satisfactory results. Increased incidence of radiolucent lines around the ulnar stem and bushing wear with longer follow-up is of concern and represents the failure mode for this total elbow arthroplasty implant. Level of evidence: IV. © 2013 Elsevier Masson SAS.

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