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11.
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 总被引:2,自引:0,他引:2
Emanuela Maserati Fiorenza Aprili Fabrizio Vinante Franco Locatelli Giovanni Amendola Adriana Zatterale Giuseppe Milone Antonella Minelli Franca Bernardi Francesco Lo Curto Francesco Pasquali 《Genes, chromosomes & cancer》2002,33(1):93-97
The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistep carcinogenetic process. To assess the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8, an informative sample of 14 patients was collected. The data ascertained included chromosome analyses of fibroblast cultures and of PHA-stimulated blood cultures in patients with normal blood differential count, as well as possible CT8M clinical signs. One patient showed trisomy 8 in all cell types analyzed and undoubtedly has a CT8M; a second patient consistently showed trisomy 8 in PHA-stimulated blood cultures when no immature myeloid cells were present in blood and should be considered as having CT8M; a third patient, with Philadelphia-positive chronic myelocytic leukemia, was more difficult to interpret, but the possibility that she had CT8M is likely. A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%. 相似文献
12.
Mazzanti L Cicognani A Baldazzi L Bergamaschi R Scarano E Strocchi S Nicoletti A Mencarelli F Pittalis M Forabosco A Cacciari E 《American journal of medical genetics. Part A》2005,135(2):150-154
The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors. There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients. The aim of our study was to evaluate a large number of patients with UTS, followed before and during the pubertal age for the prevalence of Y-chromosome derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplastic degeneration. An unselected series of 171 patients with UTS (1-34 years old), diagnosed cytogenetically, was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats). The follow-up was of 2-22 years; 101 of these patients were followed during pubertal age. Y-chromosome material was found in 14 patients (8%): 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in four patients under 16 years of age: in two, Y-material was detected only at molecular analysis (at conventional cytogenetic analysis, one was included in the 45,X group and one in the X + mar group) and one had also an immature teratoma and an endodermal sinus carcinoma. The prevalence of gonadoblastoma in our series of gonadectomized UTS patients with Y-positive material was of 33.3% (4/12). Our data suggest that the age of appearance and the possibility of malignant degeneration of gonadoblastoma can occur early in life. These patients, in particular those with 45,X or a marker chromosome may benefit from molecular screening to detect the presence of Y-chromosome material; PCR is a rapid and inexpensive technique. At the moment, laparoscopy and preventive gonadectomy performed as soon as possible remain the procedures of choice for patients with UTS, when Y-chromosome has been identified, as we are still unable to predict a future malignant evolution of gonadoblastoma. 相似文献
13.
Mazzanti L Cacciari E Cicognani A Bergamaschi R Scarano E Forabosco A 《American journal of medical genetics. Part A》2003,(3):279-286
We present three children with short stature, the same facial phenotype, macrocephaly, enlarged cerebral spinal fluid spaces, short neck with redundant skin, severe GH deficiency, mild psychomotor delay with attention deficit/hyperactivity disorder (ADHD), mild dilatation of the pulmonary root in two of them, and a unique combination of ectodermal abnormalities. Their appearance, not completely typical of Noonan syndrome, the behavioral phenotype, GH deficiency, darkly pigmented and hairless skin, and the unusual aspect of the hair, defined as loose anagen hair syndrome did not fit any known condition. We postulate that these children may represent a distinct, previously unreported syndrome that we would name "Noonan-like syndrome with loose anagen hair". 相似文献
14.
Martin Elhay Michelle Kelleher Antony Bacic Malcolm J. McConville Douglas L. Tolson Terry W. Pearson Emanuela Handman 《Molecular and biochemical parasitology》1990,40(2)
Lipophosphoglycan (LPG) of Leishmania is a polymorphic molecule comprising an alkylglycerol anchor, a conserved oligosaccharide core and a species-specific polymer of oligosaccharide repeats joined by phosphodiester bonds. This molecule, together with the membrane polypeptide gp63, has been implicated as a parasite receptor for host macrophages. To examine the role of LPG in parasite infectivity glycosylation variants of Leishmania major were generated by chemical mutagenesis of a virulent cloned line V121 and variants with modified LPG selected using the galactose-specific lectin Ricinus communis II (RCA II). Twenty RCA II-resistant primary clones were generated. Analysis of LPG profile by immunoblotting using LPG-specific monoclonal and polyclonal antibodies revealed that some of the clones were LPG-deficient. Three clones that did not bind any LPG-specific antibodies but expressed normal levels of the Mr 63 000 glycoprotein (gp63), a second parasite receptor for host, were chosen for detailed studies.All three clones expressed, at least to some extent, a surface molecule which could be labeled by mild periodate oxidation and sodium borotritide and behaved like LPG by hydrophobic interaction chromatography. All clones also bound a well-characterized monoclonal antibody L157 directed to the core oligosaccharide of LPG, but did not bind another monoclonal antibody, CA7AE, to an epitope on a repeating unit shared by Leishmania donovani and L. major LPG. A third monoclonal antibody, 5E6, recognizing LPG on the surface of wild-type V121 promastigotes bound only to RCA II-resistant clone 3A2-C3 and was restricted to an internal structure. The LPG molecule that this clone expressed was a form of LPG by its chromatographic behavior and by its monosaccharide and alkylglycerol composition. Clone 3A2-C3 was the only one to infect mice in vivo and survive in macrophages in vitro, albeit at a much reduced rate compared to wild-type V121 promastigotes. The data suggest that some form of LPG may be necessary to ensure parasite infectivity. 相似文献
15.
Mantovani A Bonecchi R Martinez FO Galliera E Perrier P Allavena P Locati M 《International archives of allergy and immunology》2003,132(2):109-115
After the identification of the interleukin (IL)-1 type II receptor as the prototype, decoy receptors have been identified for a number of members of the IL-1/IL-18, TNF, IL-10 and IL-13 receptor families. Moreover, the silent receptor D6 is a promiscuous decoy and scavenger receptor of inflammatory chemokines. The IL-1 decoy receptor is regulated by pro- and anti-inflammatory signals and its levels may serve as a readout of the activation of anti-inflammatory pathways, for instance by glucocorticoid hormones. Decoy receptors represent a strategy to tune inflammatory and polarized adaptive responses. 相似文献
16.
In recent years a number of studies have highlighted the novel concept that the actual role of natural killer (NK) cells is not only confined to the destruction of virus-infected cells or tumors. Indeed NK cells, by interacting with myeloid DCs during the early phases of inflammation, appear to play a crucial role in shaping both innate immune reactions (within inflamed peripheral tissues) and adaptive immune responses (in secondary lymphoid compartments). Interestingly, this novel function assigned to NK cells is essentially mediated through the aggression of normal immature myeloid DCs. Only DCs undergoing optimal maturation become refractory to NK cell killing and will obtain the permission to prime Th1 cells after migration to lymph nodes. 相似文献
17.
IL-21 induces both rapid maturation of human CD34+ cell precursors towards NK cells and acquisition of surface killer Ig-like receptors 总被引:9,自引:0,他引:9
Sivori S Cantoni C Parolini S Marcenaro E Conte R Moretta L Moretta A 《European journal of immunology》2003,33(12):3439-3447
The NK cell maturation from CD34(+) Lin(-) hematopoietic cell precursors is a complex process that requires the direct contact with stromal cells and/or the synergistic effect of different cytokines. In this study we show that IL-21 is capable of inducing an accelerated NK cell maturation when added to cultures of CD34(+) Lin(-) cells isolated from human cord blood supplemented with IL-15, Flt3-L and SCF. After 25 days of culture, 50% of CD56(+) cells expressed various NK cell markers including the NKp46 and NKp30 triggering receptors, the CD94/NKG2A inhibitory receptor and CD16. At day 35, substantial fractions of NK cells expressed KIR, CD8 and CD2, i.e. surface markers expressed by mature NK cells, that are virtually undetectable in developing NK cells cultured in the absence of IL-21. Remarkably, similar to mature NK cells all these markers were included in the CD56(dim) cell fraction, while the CD56(bright) population was only composed of CD94/NKG2A(-) and CD94/NKG2A(+) cells. Thus, IL-21 allows the induction of a full NK cell maturation in vitro and offers an important tool for dissecting the molecular mechanisms involved in different steps of NK cell maturation and in the acquisition of a mature KIR repertoire. 相似文献
18.
Emanuela Masini L. Rucci Maria Bruna Cirri-Borghi Eliana Giannella P. F. Mannaioni 《Inflammation research》1986,18(1-2):251-253
Parasympathetic innervation of nasal mucosa plays an important role in the pathogenesis of chronic hypertrophic non-allergic rhinitis (C.H.N.A.R.). The present study investigated the effect of Vidian nerve stimulation and resection on the histamine contents and on the morphological pattern in mucosal samples of patients with C.H.N.A.R. Vidian nerve stimulation determines a significant decrease in histamine content in the samples examined; microscopical observations showed significant variations in the glandular, stromal and vascular components.The changes indicate an enhanced secretory activity, intensive vasodilatation and active degranulation of mast cells, which were significantly decreased in number in the samples obtained after 90 sec of stimulation.The neurectomy of the Vidian nerve resolves quite completely the clinical symptomatology and in parallel decreases the mucosal histamine contents, which are increased in patients with C.H.N.A.R. before the operation in comparison with the normal controls. 相似文献
19.
Arianna Giannetti Gaia Toschi Vespasiani Giampaolo Ricci Angela Miniaci Emanuela di Palmo Andrea Pession 《Nutrients》2021,13(5)
Cow’s milk allergy (CMA) is one of the most common food allergies in infants, and its prevalence has increased over recent years. In the present paper, we focus on CMA as a model of food allergies in children. Understanding the diagnostic features of CMA is essential in order to manage patients with this disorder, guide the use of an elimination diet, and find the best moment to start an oral food challenge (OFC) and liberalize the diet. To date, no shared tolerance markers for the diagnosis of food allergy have been identified, and OFC remains the gold standard. Recently, oral immunotherapy (OIT) has emerged as a new therapeutic strategy and has changed the natural history of CMA. Before this, patients had to strictly avoid the food allergen, resulting in a decline in quality of life and subsequent nutritional, social, and psychological impairments. Thanks to the introduction of OIT, the passive approach involving rigid exclusion has changed to a proactive one. Both the heterogeneity in the diagnostic process among the studies and the variability of OIT data limit the comprehension of the real epidemiology of CMA, and, consequentially, its natural history. Therefore, well-planned randomized controlled trials are needed to standardize CMA diagnosis, prevention, and treatment strategies. 相似文献
20.
Virginia Masoni Leda Staletti Marco Berlusconi Alessandro Castagna Emanuela Morenghi 《Clinics in Orthopedic Surgery》2021,13(1):10
BackgroudCurrent evidence supports the use of cemented hemiarthroplasty for treatment of intracapsular femoral neck fractures since it is associated with a lower risk of implant-related complications. However, many medical centers employ the cementless technique for the frail elderly population because it is faster and has lower cardiovascular risks and perioperative mortality. This observational study reports the outcomes of cementless bipolar hemiarthroplasty for intracapsular femoral neck fractures in patients aged 80 years and older.MethodsA total of 424 patients (female, 77.1%) with a mean age of 86.9 years were operated for intracapsular femoral neck fractures between January 2009 and December 2017. Of those, 66.7% had an American Society of Anaesthesiologists (ASA) score of 3 or more. All operations were performed with the posterolateral surgical approach and all patients received a cementless stem. Intraoperative and perioperative values and in-hospital outcomes were evaluated, and clinical and radiographical follow-up was done at 40 days, 90 days, and when possible between 5 months and 12 months postoperatively. Multivariate analysis was performed to evaluate if there were factors affecting mortality.ResultsThe mean operative time was 50 minutes. There were no deaths intraoperatively. Intraoperative periprosthetic fractures occurred in 2.1% of the cases with 66.7% of them fixed through cerclage wires intraoperatively. The median length of hospitalization was 11 days (interquartile range, 8.75–15) and 2.4% of patients died while in hospital after surgery. Approximately 91.5% of patients presented with perioperative anemia. Only 1.9% of the complications were related to the implant, 62.5% of which were dislocations. More than 90% of patients were ambulatory either autonomously or with support at each follow-up assessment. Age, male sex, and higher ASA score were related to increased mortality.ConclusionsDespite some limitations, this observational study underlines that a cementless femoral stem of modern design can give good clinical outcomes, thus being an appropriate solution especially for the frail elderly. 相似文献