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991.
Cox MC Panetta P Lo-Coco F Del Poeta G Venditti A Maurillo L Del Principe MI Mauriello A Anemona L Bruno A Mazzone C Palombo P Amadori S 《American journal of clinical pathology》2004,122(2):298-306
Structural abnormality of the 11q23 band (11q23+) bearing the MLL gene translocation (MLL+) is a recurrent chromosome change observed in 3% to 7% of acute lymphoblastic leukemias and in 3% to 4% of acute myeloblastic leukemias. The resolution of conventional cytogenetics (CC) in detecting 11q23 rearrangement is limited when the translocative partner has a telomeric location; furthermore, CC can barely discriminate between true 11q23+/MLL+ and rearrangements clustering within the 11q22 to approximately 25 region without MLL involvement (MLL-). We characterized a series of 378 consecutive patients with adult acute leukemia by using CC, fluorescence in situ hybridization (FISH), and multiplex karyotyping (M-FISH) analysis. Our aim was to define the frequency of cryptic MLL+ cases and the frequency of MLL+ within 11q22 to approximately 25+ cases. As expected, FISH was more sensitive than CC in detecting MLL+ cases, but rather unexpectedly, 9 (45%) of 20 patients with 11q22 to approximately 25+ were MLL-. A better characterization of 11q22 to approximately 25+/MLL- leukemias is relevant for the identification of new, recurrent translocations. Moreover, these cases should be readily distinguishable from 11q23+/MLL+ cases. We recommend that karyotypic analysis always be complemented by molecular or FISH methods to unravel MLL rearrangements. 相似文献
992.
Avian influenza (AI) is a listed disease of the World Organisation for Animal Health (OIE) that has become a disease of great importance both for animal and human health. The increased relevance of AI in the fields of animal and human health has highlighted the lack of scientific information on several aspects of the disease, which has hampered the adequate management of some of the recent crises. Millions of animals have died, and there is growing concern over the loss of human lives and over the management of the pandemic potential.The present paper aims to identify areas of knowledge of veterinary competence that need to be improved in order to generate information to support the global AI crisis, and highlights the major changes in AI legislation, including regulations related to trade. It also reviews the human health implications of AI, including the mechanisms by which a human pandemic virus may be generated, and the food safety issues related to this infection. The application of control policies, ranging from stamping out to emergency and prophylactic vaccination, are discussed on the basis of data generated in recent outbreaks, and in the light of new regulations, also in view of the maintenance of good animal welfare.Poultry veterinarians working for the industry or for the public sector represent the first line of defence against the pandemic threat and for the prevention and control of this infection in poultry and in wild birds. However, given the current situation, it is imperative that close collaboration is sought and achieved by health officials involved in the veterinary, agricultural and medical aspects of the disease. Only through the exchange of data, experiences, views and information will it be possible to combat this zoonosis, which represents a major threat to public health and animal well-being. 相似文献
993.
We report on four patients with partial monosomy of the long arm of chromosome 6: two children presenting with an interstitial deletion del(6)(q14q16), the two others presenting with a terminal deletion del(6)(q25qter). These patients are compared with previous reports in the literature: 16 cases of terminal deletion and 17 cases of interstitial deletion. The deletions most often occur de novo. Mental retardation is always described. Dysmorphic facial features range between minor and major. There may be associated visceral abnormalities. After comparing the size and the localisation of the deletions with clinical data, we are now able to suggest a clinical localisation on chromosome 6. 相似文献
994.
Zorzetto M Bombieri C Ferrarotti I Medaglia S Agostini C Tinelli C Malerba G Carrabino N Beretta A Casali L Pozzi E Pignatti PF Semenzato G Cuccia MC Luisetti M 《American journal of respiratory cell and molecular biology》2002,27(1):17-23
Sarcoidosis is likely to result from exposure of genetically susceptible hosts to environmental agents. Erythrocyte (E) complement receptor 1 (CR1) is a membrane protein mediating the transport of immune complexes (ICs) to phagocytes, and at least three polymorphisms on the CR1 gene are related to erythrocyte surface density of CR1 molecules, in turn related to the rate of IC clearance from circulation. We hypothesized that sarcoidosis could be associated with increased frequency of the CR1 gene alleles coding for reduced CR1/E ratio. We studied 91 sarcoid patients and two control groups: 94 healthy volunteers and 71 patients with chronic obstructive pulmonary disease (COPD). Three polymorphic sites of CR1 gene, His1208Arg, intron 27 HindIII/RFLP, and Pro1827Arg, were analyzed. The three polymorphisms were in linkage disequilibrium. The GG genotype for the Pro1827Arg (C(5507)G) polymorphism was significantly associated with sarcoidosis in comparison to both control groups (odds ratio [OR] = 3.13; 95% confidence interval [CI] 1.49-6.69 versus healthy control subjects, and OR= 2.82, 95% CI 1.27-6.39 versus COPD control subjects). The same genotype was particularly associated to disease in females (OR = 7.05; 95% CI 3.10-16.61 versus healthy control subjects). These findings agree with speculations on the role of CR1 gene as a possible susceptibility factor. 相似文献
995.
Graham J. Britton Eduardo J. Contijoch Ilaria Mogno Olivia H. Vennaro Sean R. Llewellyn Ruby Ng Zhihua Li Arthur Mortha Miriam Merad Anuk Das Dirk Gevers Dermot P.B. McGovern Namita Singh Jonathan Braun Jonathan P. Jacobs Jose C. Clemente Ari Grinspan Bruce E. Sands Jeremiah J. Faith 《Immunity》2019,50(1):212-224.e4
996.
Michele Zorzetto Ilaria Ferrarotti Ilaria Campo Antonella Balestrino Stefano Nava Marina Gorrini Roberta Scabini Paola Mazzola Maurizio Luisetti 《Diagnostic molecular pathology》2005,14(2):121-124
Alpha1-antitrypsin deficiency (AATD) is a common hereditary disorder associated with high risk of developing pulmonary emphysema early in life and, to a lesser extent, chronic liver disease and cirrhosis. Among Northern Europeans and Northern Americans, more than 95% of individuals with emphysema associated with AATD carry the most frequent AAT deficient gene variants, PI*Z and PI*S. Rare AAT deficient variants account for 2-4% of AATD individuals. We extend the sequence data on AAT by characterizing a novel Null allele detected in 3 subjects: a carrier belonging to an Italian/Egyptian family and 2 members of a family originating from Southern Italy. The mutation raised on a M1 (Ala213) base allele and it is characterized by an A-->T transversion at exon III, nt 218, codon 259 (AAA-->TAA) (GeneBank accession number AY 256958). The transversion results in a premature stop codon (Lys259AAA-->Stop259TAA). The proposed nomenclature of Q0cairo is from the birthplace of the father of first recognized subject. Serum levels and isoelectric focusing of AAT were consistent with the presence of the Null variant. 相似文献
997.
Michele Zappella Ilaria Meloni Ilaria Longo Giuseppe Hayek Alessandra Renieri 《American journal of medical genetics. Part A》2001,104(1):14-22
Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical features of these girls have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic abilities, evident autistic behavior, and normal head circumference. Six were overweight, often obese, had kyphosis, coarse face, and mental age of two‐to‐three years, and were able to speak in sentences; four had normal weight, mental age not beyond one‐to‐two years, and spoke in single words and two‐word phrases. The course of the disorder was in stages as in classic Rett syndrome. Hand‐washing was present in the first years of life but often subsequently disappeared. Significantly, all mutations found in PSV are either missense or late truncating mutations. In particular, we did not find the four early truncating hot spots: R168X, R255X, R270X, R294X. These results suggest that early truncating mutations lead to a poor prognosis (classic Rett), while late truncating and missense mutations lead either to classic Rett or PSV. We hypothesize that a missense or late truncating mutation is necessary but not sufficient to produce a PSV, based on the presence of one (or more) modifier genes whose product may interact in a epistatic manner with MeCP2 protein. © 2001 Wiley‐Liss, Inc. 相似文献
998.
Biological fate of tissue-engineered porcine valvular conduits xenotransplanted in the sheep thoracic aorta 总被引:2,自引:0,他引:2
Conconi MT Rocco F Spinazzi R Tommasini M Valfrè C Busetto R Polesel E Albertin G Dei Tos A Iacopetti I Cecchetto A Zussa C Grigioni M Parnigotto PP Nussdorfer GG 《International journal of molecular medicine》2004,14(6):1043-1048
The ideal prosthesis to replace the diseased human aortic valve is not yet available. We have previously shown that porcine acellular aortic-valve conduits, obtained by detergent-enzymatic method, display hemodynamic performances similar to those of their native counterparts. Hence, it seemed worthwhile to ascertain whether these tissue-engineered prostheses can be successfully xenotransplanted. Porcine acellular conduits, which immunocytochemistry demonstrated to lack MHC class I and II antigens, were implanted in the thoracic aorta of 9 sheep. Two animals died just after surgery, and the other 7 sheep were sacrificed 1 or 5 months after transplantation. A rather favorable outcome of the implant was observed in 4 sheep. In these animals, aortic valves remained pliable and coaptive, and the luminal surface of the conduits was endothelized just after one month from surgery. An intense inflammatory response was present at 1 month, and, although attennuated, it persisted for 5 months, located mainly between the tunica intima and media and at the border of the implant. Vimentin-positive and smooth muscle actin-positive myofibroblasts proliferated within tunica media and adventitia, and an obvious thickening of the tunica intima was also observed. Small vessels were seen in the adventitia, and elastic fibers were well-preserved in both the aorta wall and valve leaflets. In the cases of unfavorable outcome (3 of 7 survived sheep), implants were detached from the aorta recipient and surrounded by a connective mass that almost completely obstructed their lumen. These masses were composed of a fibromyxoid background where proliferating cells, resembling those occurring in human reactive myofibroblastic lesions (proliferative fascitis), were embedded. Collectively, these rather disappointing findings indicate that acellular valve conduits, obtained by the detergent-enzymatic method, are presently not suitable for clinical applications because of the persistent inflammatory response, which conceivably triggers overgrowth mechanisms that lead to implant failure. 相似文献
999.
Frusconi S Passerini I Girolami F Masieri M Linari S Longo G Morfini M Torricelli F 《Human mutation》2002,20(3):231-232
Hemophilia A is an X-linked recessive disorder resulting from deficiency of Factor VIII (F8C), an important protein in blood coagulation. A large number of disease producing mutations have been reported in the F8C gene. However, a comprehensive analysis of mutations is difficult to conduct due to the large gene size, its many scattered exons, and the high frequency of de novo mutations. In this study, we performed analysis using PCR, Conformation Sensitive Gel Electrophoresis (CSGE), Denaturing High Performance Liquid Chromatography (DHPLC) and direct sequencing. We found seven novel mutations causing severe, moderate and mild Hemophilia A: IVS14-1G>A, G458V, T1695S, L1758P, Q2311P, 1441delT, 1269-1271insA. At least four variants detected by DHPLC (IVS14-1G>A, Q2311P,_R698W and D1241Q) were not detectable by CSGE. 相似文献
1000.
Chiarini A Dal Pra I Menapace L Pacchiana R Whitfield JF Armato U 《International journal of molecular medicine》2005,16(5):801-807
The accumulation of amyloid beta (Abeta)-peptides and their collection in fibrillar plaques in the human brain are believed to be responsible for Alzheimer's disease. The major neuron killers in the Alzheimer brain include proinflammatory cytokines and NO made by NOS-2 (inducible nitric oxide synthase-2). We have determined the effect of a soluble Abeta peptide, Abeta(1-40), on the expression of NOS-2 in astrocytes using a novel model system consisting of pure cultures of cells from adult human brains that, after the first three passages in vitro, become stably locked into the normal astrocytic phenotype like their counterparts in the adult human brain. Abeta(1-40) alone stimulated quiescent astrocytes to start expressing functional NOS-2 and dumping NO into the culture medium during the next 4 days. But adding three of the proinflammatory cytokines commonly produced in the Alzheimer brain--IFN-gamma, IL-1beta, and TNF-alpha--along with Abeta(1-40) more than trebled NOS-2 expression and doubled NO production. In view of the possibility of myelin breakdown in the Alzheimer brain, we also tested the capability of myelin basic protein (MBP) to stimulate NO production using human astrocytes. We found that MBP mimicked the ability of Abeta(1-40) to induce cells to release NO and adding the cytokine triad along with MBP more than doubled NO production and release. Thus, it appears that Abeta peptides and MBP can join forces with proinflammatory cytokines to enhance the NO-mediated killing of neurons in the Alzheimer brain. 相似文献