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21.
Genetic and non‐genetic factors that increase the risk of non‐syndromic cleft lip and/or palate development
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Weaver CH; Buckner CD; Longin K; Appelbaum FR; Rowley S; Lilleby K; Miser J; Storb R; Hansen JA; Bensinger W 《Blood》1993,82(7):1981-1984
Five syngeneic transplants were performed in four patients following myeloablative therapy using unmodified peripheral blood mononuclear cells (PBMCs) collected after the administration of recombinant human granulocyte colony stimulating factor (rhG-CSF) to normal donors. The only toxicity experienced by the four normal donors was bone pain. Four patients received two collections of PBMCs, and a second transplant was performed in one patient with one collection. The patients received a median of 20.53 x 10(8) total nucleated cells/kg (range 20 to 25.5), 11.3 x 10(8) total mononuclear cells/kg (range 6.52 to 17.2), 113.1 x 10(4)/kg CFU-GM (range 46.7 to 211.8) and 9.6 x 10(6) CD34+ cells/kg (range 1.6 to 12.6) Post-transplant growth factors were not administered. The median time to an absolute neutrophil count greater than 0.5 x 10(9)/L was 14 days (range 10 to 18). The median time to platelet transfusion independence was 11 days (range 10 to 13). Two patients had the number of CD3+ T lymphocytes determined in the pheresis product. An average of 3.04 x 10(10) CD3+ cells were collected per pheresis. This represents an approximate 1 log increase over the number of T lymphocytes in a typical bone marrow transplant. Rh-GCSF can be used to mobilize peripheral blood progenitor cells from normal donors with minimal toxicity. Studies of allogeneic transplants using PBMCs collected after rhG-CSF administration to determine permanent grafting ability and the incidence and severity of graft-versus-host disease are warranted. 相似文献
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Alexis Régent Brigitte Autran Guislaine Carcelain Rémi Cheynier Benjamin Terrier Bénédicte Charmeteau-De Muylder Alain Krivitzky Eric Oksenhendler Nathalie Costedoat-Chalumeau Pascale Hubert Olivier Lortholary Nicolas Dupin Patrice Debré Lo?c Guillevin Luc Mouthon for the French Idiopathic CD T Lymphocytopenia Study Group 《Medicine》2014,93(2)
Idiopathic CD4 T lymphocytopenia (ICL) is a rare and severe condition with limited available data. We conducted a French multicenter study to analyze the clinical and immunologic characteristics of a cohort of patients with ICL according to the Centers for Disease Control criteria.We recruited 40 patients (24 female) of mean age 44.2 ± 12.2 (19–70) years. Patients underwent T-lymphocyte phenotyping and lymphoproliferation assay at diagnosis, and experiments related to thymic function and interferon (IFN)-γ release by natural killer (NK) cell were performed. Mean follow-up was 6.9 ± 6.7 (0.14–24.3) years. Infectious, autoimmune, and neoplastic events were recorded, as were outcomes of interleukin 2 therapy.In all, 25 patients had opportunistic infections (12 with human papillomavirus infection), 14 had autoimmune symptoms, 5 had malignancies, and 8 had mild or no symptoms. At the time of diagnosis, the mean cell counts were as follows: mean CD4 cell count: 127/mm3 (range, 4–294); mean CD8: 236/mm3 (range, 1–1293); mean CD19: 113/mm3 (range, 3–547); and mean NK cell count: 122/mm3 (range, 5–416). Most patients had deficiency in CD8, CD19, and/or NK cells. Cytotoxic function of NK cells was normal, and patients with infections had a significantly lower NK cell count than those without (p = 0.01). Patients with autoimmune manifestations had increased CD8 T-cell count. Proliferation of thymic precursors, as assessed by T-cell rearrangement excision circles, was increased. Six patients died (15%). CD4 T-cell count <150/mm3 and NK cell count <100/mm3 were predictors of death.In conclusion, ICL is a heterogeneous disorder often associated with deficiencies in CD8, CD19, and/or NK cells. Long-term prognosis may be related to initial CD4 and NK cell deficiency.Abbreviations: AIHA = autoimmune hemolytic anemia, CDC = Centers for Disease Control, CMV = cytomegalovirus, cpm = count per minute, CVID = common variable immunodeficiency, CXCR4 = C-X-C chemokine receptor type 4, HIV = human immunodeficiency virus, HLA = human leukocyte antigen, HPV = human papillomavirus, HTLV-1/2 = human T-cell lymphotropic 1/2, ICL = idiopathic CD4 T lymphocytopenia, IFN-γ = interferon-γ, IL = interleukin, JC virus = John Cunningham virus, LPA = lymphocyte proliferation assay, NK = natural killer, P = patient, PBMC = peripheral blood mononuclear cell, Pwd = pokeweed, SI = stimulation index, sj = signal joint, TREC = T-cell rearrangement excision circle 相似文献
27.
Confocal and dermoscopic features of basal cell carcinoma in Gorlin–Goltz syndrome: A case report
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Alice Casari Giuseppe Argenziano Elvira Moscarella Aimilios Lallas Caterina Longo 《The Australasian journal of dermatology》2017,58(2):e48-e50
Gorlin–Goltz (GS) syndrome is an autosomal dominant disease linked to a mutation in the PTCH gene. Major criteria include the onset of multiple basal cell carcinoma (BCC), keratocystic odontogenic tumours in the jaws and bifid ribs. Dermoscopy and reflectance confocal microscopy represent imaging tools that are able to increase the diagnostic accuracy of skin cancer in a totally noninvasive manner, without performing punch biopsies. Here we present a case of a young woman in whom the combined approach of dermoscopy and RCM led to the identification of multiple small inconspicuous lesions as BCC and thus to the diagnosis of GS syndrome. 相似文献
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A. Lallas Z. Apalla I. Lefaki T. Tzellos A. Karatolias E. Sotiriou E. Lazaridou D. Ioannides I. Zalaudek G. Argenziano 《Journal of the European Academy of Dermatology and Venereology》2013,27(5):617-621
Background Early stage mycosis fungoides (MF) is difficult to be clinically differentiated from chronic dermatitis (CD) in a high proportion of patients. Dermoscopy is a rapid, cheep, non‐invasive and widely used method for the evaluation of skin tumours and, recently, of inflammatory skin diseases, as well. Objective To describe the dermoscopic pattern of early stage MF and compare it with the dermoscopic features observed in CD. Methods This was a retrospective study. Dermoscopic images of lesions that were clinically equivocal between MF and CD were evaluated for the presence of predefined morphologic criteria. Diagnosis had been histopathologically and immunohistochemically confirmed in all cases. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated for predefined dermoscopic criteria in relation to the diagnosis of mycosis fungoides. Results A total of 67 dermoscopic images were selected for dermoscopic evaluation. Mycosis fungoides lesions exhibited a characteristic dermoscopic pattern consisting of fine short linear vessels (sensitivity 93.7%, specificity 97.1%) and orange‐yellowish patchy areas (sensitivity 90.6%, specificity 99.7%). A characteristic vascular structure resembling spermatozoa was also found to be highly specific for the diagnosis of mycosis fungoides. CD was typified by a different dermoscopic pattern, usually consisting of dotted vessels. Conclusions These observations provide a first indication that early stage MF exhibits a characteristic dermoscopic pattern which is different from CD. Prospective studies with long term follow‐up are needed to determine the value of these dermoscopic criteria in the differentiation between the two entities in the daily routine. 相似文献
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Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status
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