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91.
92.
E Raimondi C Lenti M Romagnoni R Negri E Gambini L Musetti L De Carli 《European neurology》1990,30(1):32-37
A number of problems concerning both clinical and genetic or cytogenetic aspects of the fragile-X syndrome remain unsolved. In the present work, a large 5-generation fragile-X family has been clinically and cytogenetically investigated. The results of our study indicated that an unusually high proportion of affected males was present in the family examined; all fragile-X-positive males were profoundly retarded and showed the phenotype typically described for this syndrome; moreover, we observed a variability of penetrance within the pedigree and all fragile-X-positive females in the 4th and 5th generation had some degree of mental impairment. A multistep mutation model has been proposed in order to explain some of these findings. 相似文献
93.
94.
Heerema NA Raimondi SC Anderson JR Biegel J Camitta BM Cooley LD Gaynon PS Hirsch B Magenis RE McGavran L Patil S Pettenati MJ Pullen J Rao K Roulston D Schneider NR Shuster JJ Sanger W Sutcliffe MJ van Tuinen P Watson MS Carroll AJ 《Genes, chromosomes & cancer》2007,46(7):684-693
Children with acute lymphoblastic leukemia (ALL) and high hyperdiploidy (>50 chromosomes) are considered to have a relatively good prognosis. The specific extra chromosomes are not random; extra copies of some chromosomes occur more frequently than those of others. We examined the extra chromosomes present in high hyperdiploid ALL to determine if there were a relation of the specific extra chromosomes and modal number (MN) and if the extra chromosomes present could differentiate high hyperdiploid from near-triploid and near-tetraploid cases. Karyotypes of 2,339 children with ALL and high hyperdiploidy at diagnosis showed a distinct nonrandom sequential pattern of gain for each chromosome as MN increased, with four groups of gain: chromosomes 21, X, 14, 6, 18, 4, 17, and 10 at MN 51-54; chromosomes 8, 5, 11, and 12 at MN 57-60; chromosomes 2, 3, 9,16, and 22 at MN 63-67; chromosomes 1, 7 13, 15, 19, and 20 at MN 68-79, and Y only at MN >or=80. Chromosomes gained at lower MN were retained as the MN increased. High hyperdiploid pediatric ALL results from a single abnormal mitotic division. Our results suggest that the abnormal mitosis involves specific chromosomes dependent on the number of chromosomes aberrantly distributed, raising provocative questions regarding the mitotic mechanism. The patterns of frequencies of tetrasomy of specific chromosomes differs from that of trisomies with the exception of chromosome 21, which is tetrasomic in a high frequency of cases at all MN. These results are consistent with different origins of high hyperdiploidy, near-trisomy, and near-tetrasomy. 相似文献
95.
96.
Ughetto Stefano Migliore Cristina Pietrantonio Filippo Apicella Maria Petrelli Annalisa DErrico Laura Durando Stefania Moya-Rull Daniel Bellomo Sara E. Rizzolio Sabrina Capela Tania Ribisi Salvatore Degiuli Maurizio Reddavid Rossella Rapa Ida Fumagalli Uberto De Pascale Stefano Ribero Dario Baronchelli Carla Sgroi Giovanni Rausa Emanuele Baiocchi Gian Luca Molfino Sarah Manenti Stefania Bencivenga Maria Sacco Michele Castelli Claudia Siena Salvatore Sartore-Bianchi Andrea Tosi Federica Morano Federica Raimondi Alessandra Prisciandaro Michele Gloghini Annunziata Marsoni Silvia Sottile Antonino Sarotto Ivana Sapino Anna Marchi Caterina Cassoni Paola Guarrera Simonetta Corso Simona Giordano Silvia 《Gastric cancer》2021,24(4):897-912
Gastric Cancer - Trastuzumab is the only approved targeted therapy in patients with HER2-amplified metastatic gastric cancer (GC). Regrettably, in clinical practice, only a fraction of them... 相似文献
97.
Filippo Pietrantonio Giovanni Fucà Daniele Rossini Hans-Joachim Schmoll Johanna C. Bendell Federica Morano Carlotta Antoniotti Salvatore Corallo Beatrice Borelli Alessandra Raimondi Federica Marmorino Monica Niger Alessandra Boccaccino Gianluca Masi Sara Lonardi Luca Boni Filippo de Braud Maria Di Bartolomeo Alfredo Falcone Chiara Cremolini 《The oncologist》2021,26(4):302-309
BackgroundDoublets plus anti‐epidermal growth factor receptors (EGFRs) are the preferred upfront option for patients with left‐sided RAS/BRAF wild‐type metastatic colorectal cancer (mCRC). Initial therapy with FOLFOXIRI‐bevacizumab is superior to doublets plus bevacizumab independently from primary tumor sidedness and RAS/BRAF status. No randomized comparison between FOLFOXIRI‐bevacizumab versus doublets plus anti‐EGFRs is available in left‐sided RAS/BRAF wild‐type mCRC.Materials and MethodsWe selected patients with left‐sided RAS and BRAF wild‐type mCRC treated with first‐line FOLFOX‐panitumumab or FOLFOXIRI‐bevacizumab in five randomized trials: Valentino, TRIBE, TRIBE2, STEAM, and CHARTA. A propensity score‐based analysis was performed to compare FOLFOXIRI‐bevacizumab with FOLFOX‐panitumumab.ResultsA total of 185 patients received FOLFOX‐panitumumab and 132 received FOLFOXIRI‐bevacizumab. Median progression‐free survival (PFS) and median overall survival (OS) were 13.3 and 33.1 months in the FOLFOXIRI‐bevacizumab group compared with 11.4 and 30.3 months in the FOLFOX‐panitumumab group (propensity score‐adjusted hazard ratio (HR) for PFS, 0.82; 95% confidence interval (CI), 0.64–1.04; p = .11; propensity score‐adjusted HR for OS, 0.80; 95% CI, 0.59–1.08; p = .14). No significant differences in overall response rate and disease control rate were observed. A statistically nonsignificant difference in favor of FOLFOXIRI‐bevacizumab was observed for OS after secondary resection of metastases. Chemotherapy‐related adverse events were more frequent in the FOLFOXIRI‐bevacizumab group, with specific regard to grade 3 and 4 neutropenia (48% vs. 26%, adjusted p = .001).ConclusionAlthough randomized comparison is lacking, both FOLFOXIRI‐bevacizumab and FOLFOX‐panitumumab are valuable treatment options in left‐sided RAS/BRAF wild‐type mCRC.Implications for PracticeA propensity score‐based analysis of five trials was performed to compare FOLFOX‐panitumumab versus FOLFOXIRI‐bevacizumab in left‐sided RAS/BRAF wild‐type metastatic colorectal cancer (mCRC). No significant differences were observed, but FOLFOXIRI‐bevacizumab achieved numerically superior survival outcomes versus FOLFOX‐panitumumab. Chemotherapy‐related adverse events were more frequent in the FOLFOXIRI‐bevacizumab group. These observations suggest that although doublet chemotherapy plus anti‐EGFRs remains the preferred treatment in patients with left‐sided RAS/BRAF wild‐type mCRC, FOLFOXIRI‐bevacizumab is a valuable option able to provide similar, if not better, outcomes at the price of a moderate increase in toxicity and may be adopted based on patients’ preference and potential impact on quality of life. 相似文献
98.
Lorenza Di Guardo Giovanni Randon Francesca Corti Viviana Vallacchi Alessandra Raimondi Giovanni Fucà Marta Bini Andrea Maurichi Roberto Patuzzo Gianfrancesco Gallino Ilaria Mattavelli Roberta Ruggeri Martina Angi Mara Cossa Barbara Valeri Carolina Cimminiello Mario Santinami Licia Rivoltini Filippo de Braud Monica Rodolfo Michele Del Vecchio 《The oncologist》2021,26(12):1079-1084
99.
Acquired immunodeficiency syndrome-associated non-Hodgkin's lymphomas and other malignancies in patients with hemophilia 总被引:3,自引:0,他引:3
Ragni MV; Belle SH; Jaffe RA; Duerstein SL; Bass DC; McMillan CW; Lovrien EW; Aledort LM; Kisker CT; Stabler SP 《Blood》1993,81(7):1889-1897
Non-Hodgkin's lymphoma (NHL) is the most common human immunodeficiency virus (HIV)-associated malignancy in hemophiliacs. We studied the incidence and clinicopathologic features of NHL in 3,041 hemophiliacs followed at 18 US Hemophilia Centers between 1978 and 1989. Of the 1,295 (56.6%) who were HIV(+), 253 (19.5%) developed acquired immunodeficiency syndrome (AIDS), of whom 14 (5.5%) developed NHL. Three NHL occurred in HIV(-) hemophiliacs, for a 36.5-fold greater risk in HIV(+) than HIV(-) hemophiliacs (P < .001). The NHL incidence rate was 29-fold greater than in the US population by Surveillance, Epidemiology, and End Results (SEER) estimates (P < .001). Between 0 and 4 lymphomas have been observed per year between 1978 and 1989. At presentation 13 (92.9%) of the HIV(+) NHL were extranodal. Ten were stage IV, 1 stage II, and 3 stage IE. Ten (71.4%) were high-grade, 3 (21.4%) intermediate-grade, and 1 (7.1%) was a low-grade B-cell lymphoma. Epstein-Barr virus (EBV) DNA was detected in 36% by in situ hybridization, including one central nervous system (CNS) lymphoma. The mean CD4 cell count at NHL diagnosis was 64/mm3, the mean latency from initial HIV infection was estimated to be 59 months, and the median survival was 7 months. The incidence of basal cell carcinoma in HIV(+) hemophiliacs was 18.3-fold greater than in HIV(-) hemophiliacs (P < .001) and 11.4-fold greater than in the US population (P < .001). In conclusion, incidence rates of NHL and basal cell carcinoma in HIV(+) hemophiliacs are significantly increased over rates in HIV(-) hemophiliacs and over rates in the US population. Clinicopathologic presentation of NHL in HIV(+) hemophiliacs is similar to that in HIV(+) homosexual men. 相似文献
100.
E Tagliabue M C Fargnoli S Gandini P Maisonneuve F Liu M Kayser T Nijsten J Han R Kumar N A Gruis L Ferrucci W Branicki T Dwyer L Blizzard P Helsing P Autier J C García-Borrón P A Kanetsky M T Landi J Little J Newton-Bishop F Sera S Raimondi 《British journal of cancer》2015,113(2):354-363