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111.
Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Besides diarrhea-associated HUS, due to verotoxin-producing Escherichia coli, in children HUS without prodromal diarrhea may be associated with other infectious and autoimmune diseases, genetic defects of the complement-regulator alternative-pathway, and inborn errors of vitamin B12 metabolism. Rhabdomyolysis is the dissolution of skeletal muscle due to various causes, including inborn errors of metabolism. Recurrent rhabdomyolysis and HUS have been previously described in one patient with a genetic defect of oxidative phosphorylation. We report the case of a 2-year-old boy with recurrent HUS and rhabdomyolysis in whom a succinate coenzyme Q reductase (complex II) deficiency was diagnosed. We hypothesize that defects of oxidative phosphorylation could be another etiological factor in atypical HUS. 相似文献
112.
Brizzolara D Gasperini F Pfanner L Cristofani P Casalini C Chilosi AM 《Cortex; a journal devoted to the study of the nervous system and behavior》2011,(8):955-973
Specific language impairment (SLI) diagnosed in the pre-school years is frequently associated with reading and writing difficulties at school age. The nature of this relationship is unclear, despite the availability of a large number of studies, mostly on English speaking children. Phonological processing deficits have been considered the prominent cause of both difficulties. However recent findings in both children with SLI and in children with reading difficulties are not easily accommodated within a single dimensional model explaining the relationship between oral and written language deficits.Our study focuses on the long-term reading and spelling outcome in relation to preschool oral language skills in a group of Italian adolescents with a documented history of SLI.Sixteen Italian adolescents diagnosed as SLI at our Hospital in the pre-school years and 32 normal controls were submitted to an extensive assessment of oral and written language skills. At a group level SLI adolescents had weak oral and written language skills in almost all tests.Results show that reading difficulties have some features in common with those of Italian developmental dyslexics but also have distinct characteristics, since reading accuracy and written comprehension, usually relatively spared in Italian developmental dyslexics, were impaired in adolescents with SLI.Longitudinal analyses showed that expressive morpho-syntactic and lexical abilities at pre-school age were the oral language skills that best predicted reading and spelling outcomes in adolescents with SLI.However, also children with severe phonological impairment in the absence of other oral language deficits showed later literacy difficulties, although less severe and mainly limited to reading accuracy.Our study supports the notion that there is a complex relationship between oral and written language difficulties which may change at different developmental time points, not captured by a single deficit model, but best conceptualized considering multiple interactions between language skills and literacy abilities. 相似文献
113.
Javelle E Gasperini G Mercier J Luciano L Sagui E Soulier M Kerebel S Lebougeant P Molinier S Guisset M Coton T Morand JJ 《Clinics and research in hepatology and gastroenterology》2011,35(11):755-758
Eosinophil accumulation in the gastrointestinal tract is a common feature of numerous disorders including mainly parasitic infection, drug-induced allergic reactions, inflammatory bowel disease, and various connective tissue disorders. Digestive tissue eosinophilia requires thorough searching for secondary causes that may be specifically treated with antibiotics, dietary and drug elimination or immunosuppressive therapy. Frequency, prognosis and therapeutic implications must guide the diagnostic course. An acute eosinophilic gastroenteritis in a 78-year-old asthmatic woman receiving celecoxib is reported. She presented later with neurologic and cutaneous features and was finally treated by methylprednisolone and cyclophosphamide. The diagnostic approach leading to a Churg-Strauss syndrome (CSS) assertion is described. We discuss the pathogenesis, the management and the potential enhancing role of celecoxib in CSS gastrointestinal involvement. 相似文献
114.
115.
R Masetti C Biagi D Zama F Vendemini A Martoni W Morello P Gasperini A Pession 《Advances in therapy》2012,29(9):747-762
Retinoids are lipophilic compounds derived from vitamin A, which have been extensively studied in cancer prevention and therapy. In pediatric oncology, they are successfully used for the treatment of acute promyelocytic leukemia (APL) and high-risk neuroblastoma (HR-NBL). APL is a subtype of acute myeloid leukemia (AML) clinically characterized by a severe bleeding tendency with a highrisk of fatal hemorrhage. The molecular hallmark of this disease is the presence of the promyelocytic leukemia (PML)-retinoic acid receptor-α (RAR α) gene fusion that plays a critical role in promyelocytic leukemogenesis and represents the target of retinoid therapy. The introduction in the late 1980s of all-trans retinoic acid (ATRA) into the therapy of APL radically changed the management and the outcome of this disease. Presently, the standard front-line therapeutic approach for pediatric APL includes anthracycline-based chemotherapy and ATRA, leading to a complete remission in almost 90% of the patients. Neuroblastoma (NBL) is an aggressive childhood tumor derived from the peripheral neural crest. More than half of patients have a high-risk disease, with a poor outcome despite intensive multimodal treatment. Although the exact mechanism of action remains unclear, the introduction of 13-cis-retinoic acid (13-cis-RA) in the therapy of NBL has improved the prognosis of this disease. Currently, the standard treatment for HR-NBL consists of myeloablative therapy followed by autologous hematopoietic stem cell transplantation (HSCT) and maintenance with 13-cis-RA for the treatment of minimal residual disease, leading to a 3-year disease-free survival rate (DFS) of about 50%. In this paper the authors provide a review of the peer-reviewed literature on the role of retinoids in the treatment of pediatric APL and HR-NBL, summarizing the most relevant clinical trial results of the last decades, analyzing the ongoing trials, and investigating future therapeutic perspectives of children affected by these diseases. 相似文献
116.
Marzia Rossato Graziella Curtale Nicola Tamassia Monica Castellucci Laura Mori Sara Gasperini Barbara Mariotti Mariacristina De Luca Massimiliano Mirolo Marco A. Cassatella Massimo Locati Flavia Bazzoni 《Proceedings of the National Academy of Sciences of the United States of America》2012,109(45):E3101
117.
Salvucci O Jiang K Gasperini P Maric D Zhu J Sakakibara S Espigol-Frigole G Wang S Tosato G 《Haematologica》2012,97(6):818-826
Background
Mobilization of hematopoietic stem/progenitor cells from the bone marrow to the peripheral blood by granulocyte colony-stimulating factor is the primary means to acquire stem cell grafts for hematopoietic cell transplantation. Since hematopoietic stem/progenitor cells represent a minority of all blood cells mobilized by granulocyte colony-stimulating factor, the underlying mechanisms need to be understood in order to develop selective drugs.Design and Methods
We analyzed phenotypic, biochemical and genetic changes in bone marrow cell populations from granulocyte colony-stimulating factor-mobilized and control mice, and linked such changes to effective mobilization of hematopoietic stem/progenitor cells.Results
We show that granulocyte colony-stimulating factor indirectly reduces expression of surface vascular cell adhesion molecule 1 on bone marrow hematopoietic stem/progenitor cells, stromal cells and endothelial cells by promoting the accumulation of microRNA-126 (miR126)-containing microvescicles in the bone marrow extracellular compartment. We found that hematopoietic stem/progenitor cells, stromal cells and endothelial cells readily incorporate these miR126-loaded microvescicles, and that miR126 represses vascular cell adhesion molecule 1 expression on bone marrow hematopoietic stem/progenitor cells, stromal cells and endothelial cells. In line with this, miR126-null mice displayed a reduced mobilization response to granulocyte colony-stimulating factor.Conclusions
Our results implicate miR126 in the regulation of hematopoietic stem/progenitor cell trafficking between the bone marrow and peripheral sites, clarify the role of vascular cell adhesion molecule 1 in granulocyte colony-stimulating factor-mediated mobilization, and have important implications for improved approaches to selective mobilization of hematopoietic stem/progenitor cells. 相似文献118.
Cherubini A Eusebi P Dell'Aquila G Landi F Gasperini B Bacuccoli R Menculini G Bernabei R Lattanzio F Ruggiero C 《Journal of the American Medical Directors Association》2012,13(1):84.e5-84.10
ObjectiveTo examine resident and facility characteristics associated with hospitalization in a cohort of Italian older nursing home residents.DesignA longitudinal observational study.SettingThe nursing homes participating in the U.L.I.S.S.E. study, a project evaluating the quality of care for older persons in Italy.Setting ParticipantsNursing home residents in 31 Italian nursing homes.MeasurementEach resident underwent a comprehensive geriatric assessment at baseline, and after 6 months and 1 year by means of the RAI MDS 2.0. Facility characteristics were collected using an ad hoc designed questionnaire. Hospitalizations were self-reported by facilities.ResultsA total of 170 (11.6%) of 1466 nursing home residents were admitted to the hospital at least once during the study period. Female gender and higher physician, nurse, and nursing assistant hours per resident were predictive of a lower probability to be admitted to the hospital, whereas a diagnosis of arrhythmia, a previous urinary tract infection, and polypharmacy were associated with a higher probability of being hospitalized.ConclusionThese findings suggest that a reduction of hospitalization of nursing home residents could be achieved by providing an adequate amount of care and optimizing the management of chronic diseases and polypharmacy. This hypothesis should be tested in future clinical trials. 相似文献
119.
Gigante A Sardo L Gasperini ML Molinaro A Riggio O Laviano A Amoroso A 《Nutrition (Burbank, Los Angeles County, Calif.)》2012,28(1):108-111
D-lactic acidosis is a rare complication that occurs in patients with short bowel syndrome due to surgical intestine resection for treatment of obesity. The clinical presentation is characterized by neurologic symptoms and high anion gap metabolic acidosis. The incidence of this syndrome is unknown, probably because of misdiagnosis and sometimes symptoms may be incorrectly attributed to other causes. Therapy is based on low carbohydrate diet, sodium bicarbonate intravenous, rehydratation, antiobiotics, and probiotics that only produce L-lactate. In the case we describe, D-lactic acidosis encephalopathy occurred 25 y after bypass jejunoileal, due to Salmonella enteriditis infection. 相似文献
120.