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51.
The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism 总被引:3,自引:0,他引:3
Michaelis RC Copeland-Yates SA Sossey-Alaoui K Skinner C Friez MJ Longshore JW Simensen RJ Schroer RJ Stevenson RE 《Journal of autism and developmental disorders》2000,30(4):355-358
A recent study has suggested that a dodecamer duplication in the HOPA gene in Xq13 may occur in a significant portion of male patients with autism. We have determined the incidence of this duplication in 202 patients from the South Carolina Autism Study. The incidence of the duplication was not significantly different between patients and controls. Three of the female patients inherited the duplication from nonautistic fathers. In addition, there was no systematic skewing of X inactivation in the female patients with the duplication, or in nonautistic mothers and sisters with the duplication. These findings suggest that the dodecamer duplication in the HOPA gene does not play a significant role in the etiology of autism. 相似文献
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Logan G Spector Yang Xie Leslie L Robison Nyla A Heerema Joanne M Hilden Beverly Lange Carolyn A Felix Stella M Davies Joanne Slavin John D Potter Cindy K Blair Gregory H Reaman Julie A Ross 《Cancer epidemiology, biomarkers & prevention》2005,14(3):651-655
BACKGROUND: The MLL 11q23 translocation arises in utero and is present in 75% of infant leukemias. That MLL+ acute myeloid leukemia (AML) can arise following chemotherapy with DNA topoisomerase II (DNAt2) inhibitors suggests that these substances, which also occur naturally in foods, may contribute toward infant leukemia. We hypothesized that maternal consumption of dietary DNAt2 inhibitors during pregnancy would increase the risk of infant leukemia, particularly AML(MLL+). METHODS: This Children's Oncology Group case-control study consisted of 240 incident cases of infant acute leukemia [AML and acute lymphoblastic leukemia (ALL)] diagnosed during 1996 to 2002 and 255 random digit dialed controls. Maternal diet during pregnancy was determined through a food frequency questionnaire. An index of specific foods identified a priori to contain DNAt2 inhibitors as well as vegetables and fruits were created and analyzed using unconditional logistic regression. RESULTS: There was little evidence of an association between the specific DNAt2 index and leukemia overall and by subtype. An exception was AML(MLL+); odds ratios (95% confidence intervals) comparing the second to fourth quartiles to the first were 1.9 (0.5-7.0), 2.1 (0.6-7.7), and 3.2 (0.9-11.9), respectively (P for trend = 0.10). For the vegetable and fruit index, there were significant or near-significant inverse linear trends for all leukemias combined, ALL(MLL+), and AML(MLL-). CONCLUSION: Overall, maternal consumption of fresh vegetables and fruits during pregnancy was associated with a decreased risk of infant leukemia, particularly MLL+. However, for AML(MLL+) cases, maternal consumption of specific DNAt2 inhibitors seemed to increase risk. Although based on small numbers, these data provide some support for distinct etiologic pathways in infant leukemia. 相似文献
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Farhana Shariff Danielle Bischof Anand Govindarajan Rebecca Prince Ronald Burkes Erika Haase Lloyd Mack Walley Temple Pamela Hebbard Cindy Boulanger-Gobeil Carman Giacomantonio Alexandre BrindAmour Lucas Sidris Pierre Dub Trevor Hamilton Andrea MacNeill Antoine Bouchard-Fortier Rami Younan Andrea McCart 《Current oncology (Toronto, Ont.)》2021,28(1):40
Background: The COVID-19 pandemic has put enormous pressure on hospital resources, and has affected all aspects of patient care. As operative volumes decrease, cancer surgeries must be triaged and prioritized with careful thought and attention to ensure maximal benefit for the maximum number of patients. Peritoneal malignancies present a unique challenge, as surgical management can be resource intensive, but patients have limited non-surgical treatment options. This review summarizes current data on outcomes and resource utilization to help inform decision-making and case prioritization in times of constrained health care resources. Methods: A rapid literature review was performed, examining surgical and non-surgical outcomes data for peritoneal malignancies. Narrative data synthesis was cross-referenced with relevant societal guidelines. Peritoneal malignancy surgeons and medical oncologists reviewed recommendations to establish a national perspective on case triage and mitigating treatment strategies. Results and Conclusions: Triage of peritoneal malignancies during this time of restricted health care resource is nuanced and requires multidisciplinary discussion with consideration of individual patient factors. Prioritization should be given to patients where delay may compromise resectability of disease, and where alternative treatment options are lacking. Mitigating strategies such as systemic chemotherapy and/or surgical deferral may be utilized with close surveillance for disease stability or progression, which may affect surgical urgency. Unique hospital capacity, and ability to manage the complex post-operative course for these patients must also be considered to ensure patient and system needs are aligned. 相似文献
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Cindy Christian Rogers 《The Physician and sportsmedicine》2013,41(5):181-186
Once-enthusiastic joggers unlace their running shoes. Entrepreneurs promote armchair exercise. Epidemiologists advocate mild exercise. What do these trends have in common? They may be tied to a trend toward upper body exercise. 相似文献
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Gabriel Alcalá-Cerra Ángel Paternina-Caicedo Cindy Díaz-Becerra Juan José Gutiérrez-Paternina 《Neurocirugía (Asturias, Spain)》2013,24(4):154-162
ObjectiveThe objective of our study was to determine the seizure control rate of cerebral hemispherectomies in adult patients with drug-resistant epilepsy.Materials and methodsA systematic review and individual patient data meta-analysis was carried out. Seven international databases and scientific meeting proceedings were reviewed. Individual patient data were analysed to establish potential factors associated with postoperative seizure control.ResultsEight articles that satisfied the pre-established selection criteria were identified.After a median follow-up of 70 months (interquartile range, 29-175.5), 79.4% of patients remained seizure-free. There were no statistically significant differences in age at onset of epilepsy, duration of epilepsy, age at surgery, time of follow-up, gender, surgical-laterality, aetiology and ictal EEG abnormalities between seizure-free patients and those with recurrences.ConclusionsCerebral hemispherectomy has a high seizure control rate in adult patients with drug-resistant epilepsy. None of the variables analysed in the present study were associated with surgical success. 相似文献
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Julian Brunner Cindy L. Cain Elizabeth M. Yano Alison B. Hamilton 《Women's health issues》2019,29(1):64-71