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  • 1
    Language: English
    In: The Journal of Urology, 2006, Vol.175(6), pp.2140-2144
    Description: We describe the presentation, diagnostic evaluation, management and outcome of female urethral trauma. All female patients treated at Harborview Medical Center between 1985 and 2001 with urethral injury were identified by International Classification of Diseases 9th revision code. Approval of the Human Subject Division was obtained and patient charts were reviewed. The Urogenital Distress Inventory Short Form, the Incontinence Impact Questionnaire Short Form and the Female Sexual Function Index were sent to the patients. A total of 25 patients (13 adults, 12 children) with a mean age of 22 years (range 4 to 67) met inclusion criteria. All had pelvic fracture related to blunt trauma. They represented 6% of all female patients treated in the same review period with pelvic fracture. Blood was seen at the introitus in 15 patients and 19 had gross hematuria. Of the injuries 9 were avulsions, 15 were longitudinal lacerations and 1 was not further specified. Primary repair was performed in 21 patients and 4 were treated nonoperatively. There were 5 patients who required secondary procedures including fistula repair in 4 and continent urinary diversion in 1. At a mean followup of 7.3 years (range 1.6 to 14.4) 9 of 21 patients (43%) had moderate or severe lower urinary tract symptoms and 8 of 13 (38%) had sexual dysfunction (FSFI score less than 26.55). Female urethral and bladder neck injury occurs with pelvic fracture, presents with gross hematuria and/or blood at the introitus, and requires operative repair for avulsions and longitudinal lacerations. These patients are at risk for significant sexual and lower urinary tract dysfunction.
    Keywords: Female ; Wounds and Injuries ; Pelvis ; Urinary Incontinence ; Questionnaires ; Medicine
    ISSN: 0022-5347
    E-ISSN: 1527-3792
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  • 2
    Language: English
    In: European Journal of Pediatrics, 2007, Vol.166(11), pp.1135-1142
    Description: Analysis of the recovery period following physical exercise has gained importance in evaluating cardiopulmonary capacity, not only in athletes but also in patients with proven or suspected heart failure. The purpose of this study was to apply these methods to long-term survivors of acute lymphoblastic leukemia (ALL) in childhood, who are at risk of developing anthracycline-induced cardiomyopathy. Nine children (mean age 12 years) and 10 adults (mean age 24 years) were included in the study after treatment for childhood ALL. Recovery of oxygen uptake and heart rate following maximal spiroergometric exercise was compared to that in 29 trained and untrained age-matched controls. The change in oxygen uptake (ΔVO 2 ) and heart rate (ΔHR) between maximal effort and 60 s of recovery did not differ significantly, either between children after oncological therapy (ΔVO 2 : 14.95 ml/kg, ΔHR: 35 bpm) and healthy children (ΔVO 2 : 15.85 ml/kg, ΔHR: 37 bpm), or between adult former oncological patients (ΔVO 2 : 13.1 ml/kg, ΔHR: 27 bpm) and untrained adults (ΔVO 2 : 15.7 ml/kg, ΔHR: 31 bpm). There was, however, a significant difference in ΔVO 2 between trained adults (ΔVO 2 : 24.5 ml/kg) and both untrained adult controls (ΔVO 2 : 15.7 ml/kg, p  = 0.004) and adult patients (ΔVO 2 : 13.1 ml/kg, p  = 0.0002). This difference was not detected for heart rate. In conclusion, the recovery period did not reveal a discernible difference in cardiopulmonary capacity between former ALL patients and untrained age-matched controls. We did confirm that heart rate and oxygen uptake recovery serve as indicators of physical fitness.
    Keywords: Acute lymphoblastic leukemia ; Anthracycline ; Oxygen uptake ; Physical fitness ; Recovery
    ISSN: 0340-6199
    E-ISSN: 1432-1076
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  • 3
    Language: English
    In: Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 01 January 2015, Vol.33(1), pp.51-7
    Description: To evaluate the performance of active surveillance as a management strategy in broad populations and to inform the development of surveillance schedules by individual patient data regarding timing and type of relapse. Retrospective study including data from 2,483 clinical stage I (CSI) patients, 1,139 CSI nonseminoma and 1,344 CSI seminoma managed with active surveillance, with the majority treated between 1998 and 2010. Clinical outcomes including relapse and death, time distribution, extent of relapse and method of relapse detection observed on active surveillance were recorded. Relapse occurred in 221 (19%) CSI-nonseminoma and 173 (13%) CSI-seminoma patients. Median time to relapse was 4 months (range, 2-61 months), 8 months (range, 2-77 months) and 14 months (range, 2-84 months) for lymphovascular invasion-positive CSI nonseminoma, lymphovascular invasion-negative CSI nonseminoma and CSI seminoma. Most relapses were observed within the first 2 years/3 years after orchiectomy for CSI nonseminoma (90%)/CSI seminoma (92%). Relapses were detected by computed tomography scan/tumor-markers in 87%/3% of seminoma recurrences, in 48%/38% of lymphovascular invasion-negative and 41%/61% of lymphovascular invasion-positive patients, respectively. 90% of CSI-nonseminoma and 99% of CSI-seminoma relapses exhibited International Germ Cell Collaborative Group good-risk features. Three patients with CSI nonseminoma died of disease (0.3%). One patient with CSI seminoma and two patients with CSI nonseminoma died because of treatment-related events. Overall, advanced disease was seen in both early- and late-relapse patients. All late recurrences were cured with standard therapy. Five-year disease-specific survival was 99.7% (95% CI, 99.24% to 99.93%). Active surveillance for CSI testis cancer leads to excellent outcomes. The vast majority of relapses occur within 2 years of orchiectomy for CSI nonseminoma and within 3 years for CSI seminoma. Late and advanced stage relapse are rarely seen. These data may inform further refinement of rationally designed surveillance schedules.
    Keywords: Neoplasm Recurrence, Local ; Seminoma -- Pathology ; Testicular Neoplasms -- Pathology
    E-ISSN: 1527-7755
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  • 4
    In: Nature, 2002, Vol.415(6870), p.436
    Description: Embryonal tumours of the central nervous system (CNS) represent a heterogeneous group of tumours about which little is known biologically, and whose diagnosis, on the basis of morphologic appearance alone, is controversial. Medulloblastomas, for example, are the most common malignant brain tumour of childhood, but their pathogenesis is unknown, their relationship to other embryonal CNS tumours is debated, and patients' response to therapy is difficult to predict. We approached these problems by developing a classification system based on DNA microarray gene expression data derived from 99 patient samples. Here we demonstrate that medulloblastomas are molecularly distinct from other brain tumours including primitive neuroectodermal tumours (PNETs), atypical teratoid/rhabdoid tumours (AT/RTs) and malignant gliomas. Previously unrecognized evidence supporting the derivation of medulloblastomas from cerebellar granule cells through activation of the Sonic Hedgehog (SHH) pathway was also revealed. We show further that the clinical outcome of children with medulloblastomas is highly predictable on the basis of the gene expression profiles of their tumours at diagnosis.
    Keywords: Sciences (General) ; Physics;
    ISSN: 0028-0836
    E-ISSN: 1476-4687
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  • 5
    In: Cancer, August 15, 1996, Vol.78(4), p.864(10)
    Description: BACKGROUND: There appears to be a growing movement in favor of core needle biopsy (CNB) over fine-needle aspiration (FNA) cytology in detecting breast carcinoma in women. The authors compared the sensitivity and specificity of these two methods in patients who presented to The University of Texas M. D. Anderson Cancer Center for evaluation of a palpable breast mass.METHODS: One hundred and twenty-four women (mean age, 51 years; range, 28-86 years) with a clinically suspicious palpable mass (mean size, 4.4 cm; range, 1-12 cm) underwent concurrent FNA and CNB. For the FNA, an average of three needle passes were made. FNA was followed by three CNBs using the Bard Monopty needle. CNB samples were submitted for frozen section to determine adequacy, and an additional three cores were performed if the first batch was deemed inadequate. All patients ultimately had histologic confirmation of their neoplasms either by the core needle procedure or by definitive open surgical biopsy. Features of cases with discrepant diagnoses were examined in relation to tumor size and histologic type.RESULTS: Specificity of both FNA and CNB was 100%. The sensitivity in detecting a malignant neoplasm was higher for FNA than for CNB (97.5% vs. 90%, P 〈 0.004).CONCLUSIONS: In our experience, FNA of palpable breast lesions is a more sensitive method for the detection of carcinoma regardless of tumor type, size, or differentiation. Contrary to other reports, not only was FNA alone more sensitive than CNB alone, the addition of CNB to an already negative FNA failed to increase sensitivity in the detection of carcinoma. However, CNB did contribute to a more definitive diagnosis in some cases. The authors also found FNA to be more cost effective than CNB for palpable breast lesions when time and effort are taken into consideration. This reinforces the benefit of FNA over CNB in the detection of early stage breast carcinoma.
    Keywords: Astrocytomas -- Care And Treatment ; Pediatric Tumors -- Care And Treatment ; Radiotherapy -- Usage ; Magnetic Resonance Imaging
    ISSN: 0008-543X
    E-ISSN: 10970142
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  • 6
    In: International Journal of Epidemiology, 2003, Vol.32(2), pp.225-233
    Description: Background To better understand patterns of occurrence or diagnosis of brain tumours in different segments of the population, we evaluated associations between sociodemographic variables and the relative incidence of brain tumours as part of a multi-faceted case-control study. Methods The study was conducted at hospitals in three US cities between 1994 and 1998. In all, 489 glioma cases (354 high-grade, 135 low-grade), 197 meningioma cases, 96 acoustic neuroma cases, and 799 controls admitted to the same hospitals for any of a variety of non-neoplastic diseases or conditions were enrolled and interviewed. Logistic regression was used to estimate odds ratios (OR), calculate 95% CI, and test for trends. Results The OR showed significant positive associations with household income for low-grade glioma, meningioma, and acoustic neuroma, but not for high-grade glioma. Positive associations were observed with level of education for low-grade glioma and acoustic neuroma, but not for high-grade glioma or meningioma. Jewish religion was associated with a significantly elevated risk for meningioma (OR = 4.3; 95% CI: 2.09.0). Being single at the time of tumour diagnosis or enrolment was associated with significantly reduced risks for meningioma (OR = 0.4; 95% CI: 0.30.6) and low- or high-grade glioma (OR = 0.6; 95% CI: 0.50.8), but not for acoustic neuroma. Conclusions Associations with sociodemographic variables varied considerably among the different subtypes of brain tumour, including between low-grade and high-grade glioma. The general pattern was for associations with indicators of affluence and education to be stronger for tumours that tend to grow more slowly and have less catastrophic effects, although the evidence was mixed for meningioma. We cannot isolate the specific factors underlying the observed associations, but intrapopulation differences in the completeness or timing of diagnosis may have played a role. There is less opportunity for such influences to operate for the rapidly progressing, high-grade gliomas than for more slowly growing tumours.
    Keywords: Brain Cancer; Brain Tumours; Social Class; Glioma; Meningioma; Acoustic Neuroma; Epidemiology
    ISSN: 0300-5771
    E-ISSN: 1464-3685
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  • 7
    Language: English
    In: Hormone research in paediatrics, 2011, Vol.76(6), pp.369-78
    Description: 3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a structural protein central to the formation of an ubiquitin E3 ligase that is known to target insulin receptor substrate 1 for degradation. CUL7 also binds to p53 and may be involved in the control of p53-dependent apoptosis. OBSL1 is a cytoskeletal adaptor protein that was thought to play a central role in myocyte remodelling, and CCDC8 has no defined function as yet. However, the physical interaction of OBSL1 with both CUL7 and CCDC8 and its potential role in the regulation of CUL7 expression suggest all three proteins are members of the same growth-regulatory pathway. Future work should be directed to investigating the function of the 3-M syndrome pathway and in particular the role in the insulin like growth factor I signalling pathway with a view of potentially revealing new therapeutic targets and identifying key regulators of cellular growth.
    Keywords: Adolescent Development ; Child Development ; Carrier Proteins -- Metabolism ; Cullin Proteins -- Metabolism ; Cytoskeletal Proteins -- Metabolism ; Dwarfism -- Genetics ; Intellectual Disability -- Genetics ; Muscle Hypotonia -- Genetics
    ISSN: 16632818
    E-ISSN: 1663-2826
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  • 8
    Language: English
    In: Journal of the American Academy of Child & Adolescent Psychiatry, August 2014, Vol.53(8), pp.910-919
    Description: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (〉500 kb), rare (〈1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (  = .09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions,  = .08 in the current study,  = .025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes.
    Keywords: Tourette Syndrome ; Obsessive-Compulsive Disorder ; Copy Number Variation ; Genetics ; 16p13.11 ; Medicine ; Social Welfare & Social Work
    ISSN: 0890-8567
    E-ISSN: 1527-5418
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  • 9
    Language: English
    In: RIGHI, VALERIA, OVIDIU C. ANDRONESI, DIONYSSIOS MINTZOPOULOS, PETER M. BLACK, and A. ARIA TZIKA. 2010. “High-resolution magic angle spinning magnetic resonance spectroscopy detects glycine as a biomarker in brain tumors.” International Journal of Oncology 36 (2): 301-306. doi:10.3892/ijo_00000500. http://dx.doi.org/10.3892/ijo_00000500.
    Description: The non-essential amino acid neurotransmitter glycine (Gly) may serve as a biomarker for brain tumors. Using 36 biopsies from patients with brain tumors [12 glioblastoma multiforme (GBM); 10 low-grade (LG), including 7 schwannoma and 3 pylocytic astrocytoma; 7 meningioma (MN); 7 brain metastases (MT), including 3 adenocarcinoma and 4 breast cancer] and 9 control biopsies from patients undergoing surgery for epilepsy, we tested the hypothesis that the presence of glycine may distinguish among these brain tumor types. Using high-resolution magic angle spinning (HRMAS) 1H magnetic resonance spectroscopy (MRS), we determined a theoretically optimum echo time (TE) of 50 ms for distinguishing Gly signals from overlapping myo-inositol (Myo) signals and tested our methodology in phantom and biopsy specimens. Quantitative analysis revealed higher levels of Gly in tumor biopsies (all combined) relative to controls; Gly levels were significantly elevated in LG, MT and GBM biopsies (P≤0.05). Residual Myo levels were elevated in LG and MT and reduced in MN and GBM (P〈0.05 vs. control levels). We observed higher levels of Gly in GBM as compared to LG tumors (P=0.05). Meanwhile, although Gly levels in GBM and MT did not differ significantly from each other, the Gly:Myo ratio did distinguish GBM from MT (P〈0.003) and from all other groups, a distinction that has not been adequately made previously. We conclude from these findings that Gly can serve as a biomarker for brain tumors and that the Gly:Myo ratio may be a useful index for brain tumor classification.
    Keywords: Brain/Cns Cancers ; Tumor Biomarkers
    ISSN: 1019-6439
    E-ISSN: 17912423
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  • 10
    Language: English
    In: American journal of epidemiology, 01 January 2007, Vol.165(1), pp.63-71
    Description: Previous studies have suggested an association of personal hair dye use with bladder and hematopoietic cancers. Risks for brain tumors are not well understood. The authors investigated associations between use of synthetic hair dyes and risk of brain tumors in a hospital-based case-control study. The study included adults newly diagnosed with glioma (n = 489), meningioma (n = 197), or acoustic neuroma (n = 96) between 1994 and 1998 at three urban US hospitals and 799 controls. Odds ratios were estimated and 95% confidence intervals were calculated using unconditional logistic regression. Detailed exposure histories were obtained by interview. There was no consistent pattern of elevated odds ratios for glioma, meningioma, or acoustic neuroma with use or prolonged use of permanent, semipermanent, temporary, or gradual hair dyes. Although use of permanent brown hair dye for 20 or more years was associated with glioma among women, the estimate was imprecise (odds ratio = 3.8, 95% confidence interval: 1.2, 12.5) and was based on just 13 exposed cases; thus, this could be a chance finding. Overall, there was little consistent evidence for an association of synthetic hair dye use with glioma, meningioma, or acoustic neuroma. However, prolonged use of dark-colored permanent dyes warrants further investigation given the high prevalence of hair dyeing.
    Keywords: Brain Neoplasms -- Epidemiology ; Environmental Exposure -- Adverse Effects ; Glioma -- Epidemiology ; Hair Dyes -- Toxicity ; Meningioma -- Epidemiology ; Neuroma, Acoustic -- Epidemiology
    ISSN: 0002-9262
    E-ISSN: 14766256
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