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61.
I. Coupry G. Sole J. Deforges E. Guerineau C. Hubert S. Deves J. Pilliod C. Rooryck C. Abel F. Le Breton S. Collardeau‐Frachon M.P. Cordier A.L. Delezoide A. Goldenberg P. Loget J. Melki S. Odent S. Patrier A. Verloes G. Viot S. Blesson B. Bessières D. Lacombe B. Arveiler C. Goizet P. Fergelot 《Clinical genetics》2016,89(3):371-377
Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick–Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra‐skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families. 相似文献
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Rheumatic heart disease: proinflammatory cytokines play a role in the progression and maintenance of valvular lesions 总被引:3,自引:0,他引:3 下载免费PDF全文
Guilherme L Cury P Demarchi LM Coelho V Abel L Lopez AP Oshiro SE Aliotti S Cunha-Neto E Pomerantzeff PM Tanaka AC Kalil J 《The American journal of pathology》2004,165(5):1583-1591
Heart lesions of rheumatic heart disease (RHD) patients contain T-cell clones that recognize heart proteins and streptococcal M peptides. To functionally characterize heart-infiltrating T lymphocytes, we evaluated their cytokine profile, both directly in situ and in T-cell lines derived from the heart (HIL). Interferon (IFN)-gamma, tumor necrosis factor (TNF)-alpha, interleukin (IL)-4, and IL-10 expressions were characterized in 20 heart tissue infiltrates from 14 RHD patients by immunohistochemistry. IFN-gamma-, TNF-alpha-, and IL-10-positive cells were consistently predominant, whereas IL-4 was scarce in the valves. In agreement with these data, the in vitro experiments, in which 13 HILs derived from heart samples of eight patients were stimulated with M5 protein and the immunodominant M5 (81-96) peptide, IL-4 was detected in HIL derived from the atrium (three of six) but not from the valve (zero of seven). IFN-gamma and IL-10 production were detected in culture supernatants in 11 of 13 and 6 of 12 HILs, respectively. The predominant IFN-gamma and TNF-alpha expression in the heart suggests that Th1-type cytokines could mediate RHD. Unlike in reversible myocardium inflammation, the significantly lower IL-4 expression in the valvular tissue (P = 0.02) may contribute to the progression of the RHD leading to permanent valvular damage (relative risk, 4.3; odds ratio, 15.8). The lack of IL-4 in vitro production by valve-derived HIL also emphasizes the more severe tissue destruction in valves observed in RHD. 相似文献
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de Villartay JP Lim A Al-Mousa H Dupont S Déchanet-Merville J Coumau-Gatbois E Gougeon ML Lemainque A Eidenschenk C Jouanguy E Abel L Casanova JL Fischer A Le Deist F 《The Journal of clinical investigation》2005,115(11):3291-3299
Amorphic mutations in the recombination activating genes RAG1 and RAG2 have been reported to cause T- B- SCID, whereas hypomorphic mutations led to the expansion of a few autoimmune T cell clones responsible for the Omenn syndrome phenotype. We report here a novel clinical and immunological phenotype associated with recessive RAG1 hypomorphic mutations in 4 patients from 4 different families. The immunological phenotype consists of the oligoclonal expansion of TCR gammadelta T cells combined with TCR alphabeta T cell lymphopenia. The clinical phenotype consists of severe, disseminated CMV infection and autoimmune blood cell manifestations. Repertoire studies suggest that CMV infection, in the setting of this particular T cell immunodeficiency, may have driven the TCR gammadelta T cell clonal expansion. This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype. 相似文献
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The present paper concerns the criteria people would prefer for prioritising health programmes. It differs from most empirical studies as subjects were not asked about their personal preferences for programmes per se. Rather, they were asked about the principles that should guide the choice of programmes. Four different principles were framed as arguments for alternative programmes. The results from population surveys in Australia and Norway suggest that people are least supportive of the principle that decision makers should follow the stated preferences of the public. Rather, respondents expressed more support for decisions based upon health maximisation, equality and urgency. Copyright © 2012 John Wiley & Sons, Ltd. 相似文献
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Jose R. Gonzalez‐Porras Fernando Escalante Emilia Pardal Magdalena Sierra Luis J. Garcia‐Frade Santiago Redondo Maryam Arefi Carlos Aguilar Fernando Ortega Erik de Cabo Rosa M. Fisac Oscar Sanz Carmen Esteban Ignacio Alberca Mercedes Sanchez‐Barba Maria T. Santos Abel Fernandez Tomas J. Gonzalez‐Lopez representing the Grupo de Trombosis y Hemostasia de Castilla y León 《European journal of haematology》2013,91(3):236-241
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