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Maria Stella Aniello Davide Martino Gianluca Masi Paolo Livrea Giovanni Defazio 《Movement disorders》2006,21(4):571-575
We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure. 相似文献
3.
L. L. Morselli L. Manetti C. Cosci C. Sardella F. Bogazzi C. Faldini E. Martino M. Gasperi 《Journal of orthopaedics and traumatology》2006,7(4):169-175
Growth hormone (GH) is fundamental for the maintenance of bone mass and metabolism both during childhood and in adulthood.
This effect is due to a complex interaction between circulating GH and IGF-I produced peripherally. In vitro data and experimental
animal models have clarified many of the regulatory mechanisms underlying the characteristic skeletal changes occurring in
acromegaly. This review focuses on the effects of GH excess on bone metabolism and mass in acromegalic patients and, in particular,
on the influence of factors such as hypogonadism, gender, age and therapy on bone metabolism and arthropathy. 相似文献
4.
Monica Conciatori Christopher J Stodgell Susan L Hyman Melanie O'Bara Roberto Militerni Carmela Bravaccio Simona Trillo Francesco Montecchi Cindy Schneider Raun Melmed Maurizio Elia Lori Crawford Sarah J Spence Lucianna Muscarella Vito Guarnieri Leonardo D'Agruma Alessandro Quattrone Leopoldo Zelante Daniel Rabinowitz Tiziana Pascucci Stefano Puglisi-Allegra Karl-Ludvig Reichelt Patricia M Rodier Antonio M Persico 《Neuropsychopharmacology》2004,55(4):413-419
BACKGROUND: The HOXA1 gene plays a major role in brainstem and cranial morphogenesis. The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. METHODS: We performed case-control and family-based association analyses, contrasting 127 autistic patients with 174 ethnically matched controls, and assessing for allelic transmission disequilibrium in 189 complete trios. RESULTS: A, and not G, alleles were associated with autism using both case-control (chi(2) = 8.96 and 5.71, 1 df, p <.005 and <.025 for genotypes and alleles, respectively), and family-based (transmission/disequilibrium test chi(2) = 8.80, 1 df, p <.005) association analyses. The head circumference of 31 patients carrying one or two copies of the G allele displayed significantly larger median values (95.0th vs. 82.5th percentile, p <.05) and dramatically reduced interindividual variability (p <.0001), compared with 166 patients carrying the A/A genotype. CONCLUSIONS: The HOXA1 A218G polymorphism explains approximately 5% of the variance in the head circumference of autistic patients and represents to our knowledge the first known gene variant providing sizable contributions to cranial morphology. The disease specificity of this finding is currently being investigated. Nonreplications in genetic linkage/association studies could partly stem from the dyshomogeneous distribution of an endophenotype morphologically defined by cranial circumference. 相似文献
5.
Peter M. Ravdin Stephanie Green James H. Doroshow Silvana Martino 《Investigational new drugs》1994,12(4):333-336
Summary Thirty-two eligible patients with advanced metastatic breast cancer who had received no more than 1 prior chemotherapy regimen for metastatic disease (16 had received prior doxorubicin) were treated with piroxantrone at a dose of 120 mg/m2 intravenously every 21 days. In the twenty-seven patients evaluable for response, two partial responses were seen. Toxicities observed were primarily hematologic with grade 3 or greater granulocytopenia occurring in 34% of the patients. One patient developed symptomatic congestive heart failure at a total cumulative dose of 960 mg/m2. We conclude that piroxantrone given at this dose and schedule has minimal activity in patients with metastatic breast cancer. 相似文献
6.
Respiratory infections (RI) are one of the major complaints in children and adolescents, and represent a demanding challenge for the pediatrician. It has been estimated that at least 6% of Italian children younger than 6 yr of age present recurrent respiratory infections (RRI). Children with RRI are not affected by severe alterations of the immune system. RRI represent essentially the consequence of an increased exposure to infectious agents during the first years of life, when immune functions are still largely immature. Several social and environmental factors, such as day-care attendance, family size, air pollution, parental smoking, and home dampness, represent important risk factors for airway diseases and may contribute in various degrees to determine the incidence of RRI. The main problem for the pediatrician is to discriminate normal children with high RI frequency related to an augmented exposure to environmental risk factors from children affected by other underlying pathological conditions (immunological or not), predisposing to infectious diseases. When RRI diagnosis has been formulated, removal of environmental risk factors (i.e. precocious day-care attendance, smoking in the household) must first be suggested. 相似文献
7.
Francesco Franceschi Rocco Papalia Alberto Di Martino Giacomo Rizzello Robert Allaire Vincenzo Denaro 《Arthroscopy》2007
During revision anterior cruciate ligament (ACL) surgery, femoral interference screws frequently require removal. This may lead to significant tunnel widening and possible graft fixation failure as a result. Solutions include drilling the revision tunnel in a different location, using stacked interference screws, or using bone graft to fill the defect. Autogenous iliac crest graft and allograft are both used, but there are significant comorbidities associated with each. We developed a new technique for harvesting autogenous bone graft that avoids many of the complications associated with other graft sources. By use of the existing surgical incision from the initial harvest of the bone–patellar tendon–bone autograft, bone from the medial tibial metaphyseal safe zone is harvested via an OATS tube harvester (Arthrex, Naples, FL). A bone plug 1 mm larger in size than the femoral defect is harvested and arthroscopically inserted via a press-fit technique. At 3 months after bone grafting, patients undergo revision ACL reconstruction. The proximal tibial metaphysis is a safe bone graft harvest site in revision ACL surgery and offers an effective method for filling large bony defects, allowing anatomic reconstruction of the ACL after bone healing has occurred. Furthermore, it eliminates the problems associated with allograft or use of a remote graft donor site. 相似文献
8.
9.
Fungal infections in cancer patients: An international autopsy survey 总被引:33,自引:0,他引:33
G. Bodey B. Bueltmann W. Duguid D. Gibbs H. Hanak M. Hotchi G. Mall P. Martino F. Meunier S. Milliken S. Naoe M. Okudaira D. Scevola J. van't Wout 《European journal of clinical microbiology & infectious diseases》1992,11(2):99-109
In an attempt to estimate the frequency of fungal infections among cancer patients, a survey of autopsy examinations was conducted in multiple institutions in Europe, Japan and Canada. Fungal infections were identified most often in leukemic patients and transplant recipients (25 % each). Fifty-eight percent of fungal infections were caused byCandida spp. and 30 % byAspergillus spp. There was considerable variability in the frequency of fungal infections in different countries. Nevertheless, this study clearly demonstrates that fungal infections represent a common complication in cancer patients, especially in patients with leukemia. 相似文献
10.
B G Redman L Flaherty S Martino M Kraut C Wisniewski M Valdivieso J J Bander 《American journal of clinical oncology》1992,15(4):340-343
Administration of high-dose IL-2 results in hemodynamic changes that are similar to those seen in septic shock. These include a decrease in systemic vascular resistance (SVR) with a resultant drop in mean arterial pressure (MAP). Hypocalcemia is seen in septic shock and with IL-2 administration. Calcium replacement in septic shock has been reported to result in hemodynamic improvement; we therefore administered calcium to patients receiving high dose IL-2 to correct ionized hypocalcemia. Five consecutive patients underwent invasive hemodynamic monitoring before and during IL-2 administration. Calcium chloride was administered to correct ionized hypocalcemia, and hemodynamic parameters were monitored before and after calcium administration. Ionized hypocalcemia was associated with an elevation in parathyroid hormone levels. There was no toxicity related to the administration of calcium. An improvement in the MAP and SVR was seen early and late (after a dose of IL-2 was held) in the IL-2 treatment cycle; there were minimal effects at other points. Because of the potential hemodynamic benefit of calcium replacement, we recommend that ionized hypocalcemia be corrected in patients receiving high-dose IL-2. 相似文献