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101.
David Cobrinik Irina Ostrovnaya Maryam Hassimi Satish K. Tickoo Irene Y. Cheung Nai‐Kong V. Cheung 《Genes, chromosomes & cancer》2013,52(12):1150-1166
Stage 4 neuroblastomas have a high rate of local and metastatic relapse and associated disease mortality. The central nervous system (CNS) is currently one of the most common isolated relapse sites, yet the genomic alterations that contribute to these metastases are unknown. This study sought to identify recurrent DNA copy number alterations (CNAs) and target genes relating to neuroblastoma CNS metastases by studying 19 pre‐CNS primary tumors and 27 CNS metastases, including 12 matched pairs. SNP microarray analyses revealed that MYCN amplified (MYCNA) tumors had recurrent CNAs different from non‐MYCNA cohorts. Several CNAs known to be prevalent among primary neuroblastomas occurred more frequently in CNS metastases, including 4p?, 7q+, 12q+, and 19q? in non‐MYCNA metastases, and 9p? and 14q? irrespective of MYCNA status. In addition, novel CNS metastases‐related CNAs included 18q22.1 gains in non‐MYCNA pre‐CNS primaries and 5p15.33 gains and 15q26.1→tel losses in non‐MYCNA CNS metastases. Based on minimal common regions, gene expression, and biological properties, TERT (5p), NR2F2 (15q), ALDH1A3 (15q), CDKN2A (9p), and possibly CDH7 and CDH19 (18q) were candidate genes associated with the CNS metastatic process. Notably, the 5p15 minimal common region contained only TERT, and non‐MYCNA CNS metastases with focal 5p15 gains had increased TERT expression, similar to MYCNA tumors. These findings suggest that a specific genomic lesion (18q22.1 gain) predisposes to CNS metastases and that distinct lesions are recurrently acquired during metastatic progression. Among the acquired lesions, increased TERT copy number and expression appears likely to function in lieu of MYCNA to promote CNS metastasis. © 2013 Wiley Periodicals, Inc. 相似文献
102.
Maryam Zarrabi Mohammadali Nazarinia Abbas Rahimi Jaberi Nasser Gholijani Zahra Amirghofran 《Medical principles and practice》2021,30(2):146
ObjectiveInterleukin (IL)-38 is a newly discovered member of the IL-1 cytokine family with a proposed anti-inflammatory profile. We studied the probable role of this cytokine in the pathogenesis of two autoimmune diseases: multiple sclerosis (MS) and systemic sclerosis (SSc).Subjects and MethodsA total of 87 MS patients and 86 SSc patients (40 new and recently untreated cases and 46 treated cases) were selected for this study. Eighty-seven and 80 age- and sex-matched healthy subjects were included as controls for MS and SSc, respectively. Clinical and paraclinical features of the patients were recorded at the time of sampling. Serum IL-38 was measured by ELISA.ResultsLevels of serum IL-38 did not significantly differ between the total MS or SSc patients compared to controls. However, levels of IL-38 were significantly higher in newly diagnosed patients of MS (206.43 ± 38.97 pg/mL, p < 0.0001) than in those previously treated (158.04 ± 39.45 pg/mL). Similarly, new/recently untreated cases of SSc patients showed increased IL-38 levels (185.19 ± 36.27 pg/mL, p = 0.001) compared to treated patients (166.82 ± 33.08 pg/mL). IL-38 levels in newly diagnosed MS patients (p = 0.007) and new/recently untreated SSc patients (p = 0.032) were significantly higher than those in healthy controls.ConclusionThe higher serum levels of IL-38 in new or recently untreated cases of MS and SSc patients than in treated patients and healthy controls suggest the possible role of this cytokine in the development of these diseases or as part of a feedback loop to attenuate the inflammatory conditions in early stages of these diseases. 相似文献
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104.
Omid Khalilzadeh Maryam Rahimian Vinay Batchu Harshna V. Vadvala Robert A. Novelline Garry Choy 《Diagnostic and interventional radiology (Ankara, Turkey)》2015,21(5):423-427
PURPOSE
A second opinion is a valuable resource in confirming proper medical diagnosis and treatment. This study evaluates the effectiveness of second-opinion radiology consultations to reassess the cervical spine computed tomography (CT) scans of the trauma patients referred to our hospital.METHODS
Cervical spine CT scans of 301 consecutive adult trauma patients, who were referred to our hospital from outside institutions, were analyzed. The emergency radiologists at our institution completed the over-read reports on the CT images obtained at the outside facilities. A single radiologist compared the outside- and over-read reports and determined the discrepancy of the radiologic reports.RESULTS
Based on the outside reports, 31% of the CT scans had cervical traumatic injury. In 92% of patients, the first-read and the over-read reports had consistent radiologic findings. About 90% of the positive, and 93% of the negative radiologic findings, were reported consistently in the over-read reports. Our analysis showed that the over-read reporting resulted in reassurance of negative findings in 63%; confirmation of positive findings in 29%; clearing a false diagnosis in 3%; and detection of a missed diagnosis in 5%. A rescan was done in 80% of patients with inconsistent and 20% of patients with consistent findings (P < 0.05). The most common missed radiologic findings in the first-reports were transverse and spinous process fractures and the most common misdiagnoses were dens fractures.CONCLUSION
For a service offering second-opinion consultations on cervical spine trauma, review of outside CT studies improves diagnosis and benefits patient care.The quality of healthcare has become a target of increasing public scrutiny and governmental concern while radiologic evaluation has assumed an increasingly important role in the diagnosis and management of patients (1). Public attention and awareness have increased and amplified the focus on the quality of healthcare (2). Some medical errors are extremely costly particularly with respect to patient morbidity and mortality.Patients referred to the tertiary care centers often arrive with radiologic imaging having already been performed at the primary institution. As part of the care to be delivered by the radiologists at the referral center, a second-opinion interpretation of the imaging studies is often requested, and the formal reports are incorporated into the patient’s permanent medical record at the referral institution where the patient’s management and treatment are determined.The added value of the point-of-care second interpretations can be viewed from the medical perspective of guiding and expediting appropriate treatment as well as from the financial perspective of avoiding unnecessary studies, at times incurring additional patient radiation exposure, when initial examinations need to be repeated or when additional examinations are suggested by the radiologist at an outside institution (3).Multidetector CT is an essential part of the assessment of patients suspected of having cervical spine injury after trauma. Despite all the advantages of multidetector CT, suspected spinal injury continues to be a daily challenge in clinical practice (4). Spine injuries are frequently missed; therefore, a second opinion can potentially improve the diagnosis (5). The purpose of this study was to evaluate the effectiveness of second-opinion radiology consultations to reassess the cervical spine CT scans of the trauma patients referred to our hospital. 相似文献105.
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108.
Maryam Khazdouz Majid Sezavar Bahareh Imani Hossein Akhavan Alireza Babapour Gholamreza Khademi 《African Journal of Paediatric Surgery》2015,12(2):143-147
Background:
Bowel function has been reported to be adversely affected following surgery in cases of Hirschsprung. We retrospectively studied both the clinical outcome and bowel function status following surgery in patients diagnosed with Hirschprung''s disease (HD). 161 cases, who underwent pull-through operations for HD in Sheikh Pediatric Tertiary Centre, Mashhad, Iran. The specified time bracket spanned between 2006 and 2011.Materials and Methods:
Data was extracted from Health Information System with the aim of investigating patients for both short and long-term gastrointestinal (GI) complications after surgery bases in addition to the concurrence of any associated anomalies. Three main procedures were analysed in this respect (Swenson, Duhamel and Soave).Results:
In a study of 96 (59%) boys and 65 (40.3%) girls, mortality rate was reported to be 15.5% (15 males and 10 females). A considerable majority of almost three fourths were detected with both early and late GI complications after surgery. The latter mainly included constipation (30.8%), incontinence (19.8%), enterocolitis (8%), diarrhea (11%) in a declining order of incidence. Down syndrome and others HD-associated anomalies were detected in 3.7% and 24.3% of cases respectively.Conclusions:
Constipation and foecal incontinence were the most prevalent postoperative complications, which were reported almost as frequent in other studies. Yet, Enterocolitis, was reported slightly less in prevalence. Also mortality rates were considerably higher, compared to developed nations.Key words: Bowel function, constipation, foecal incontinence, Hirschsprung''s disease 相似文献109.
Guido Stirnimann Maryam Ebadi Puneeta Tandon Aldo J. Montano-Loza 《Current gastroenterology reports》2018,20(11):50
Purpose of Review
The purpose of this review is to discuss the current evidence regarding the impact of sarcopenia on patients with cirrhosis awaiting liver transplantation and to determine if its presence should be considered a criterion for expedited transplantation or a contraindication for transplantation.Recent Findings
Sarcopenia is a negative predictor of survival in patients on a waiting list and after liver transplant. The gut-liver axis and the liver-muscle axis have been explored to understand the complex pathophysiology of sarcopenia.Summary
Sarcopenia is a frequent finding in patients with cirrhosis. The diagnosis is ideally based on cross-sectional image analysis (CT or MRI) and treatment consists of optimization of caloric and protein intake. To date, prioritizing tools for liver transplantation have not included nutrition or sarcopenia parameters. Patients with a low Model for End-Stage Liver Disease (MELD) or MELD-Na score and sarcopenia would benefit from prioritization for transplant in order to reduce time on waiting list and therefore mortality.110.