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Screened Patients (screened + patient)
Selected AbstractsMolecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations,HUMAN MUTATION, Issue 7 2009Marc Ferré Abstract We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies. All the patients were investigated for Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA), by searching for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA. Molecular defects were identified in 440 patients (45% of screened patients). Among these, 295 patients (67%) had an OPA1 mutation, 131 patients (30%) had an mtDNA mutation, and 14 patients (3%), belonging to three unrelated families, had an OPA3 mutation. Interestingly, OPA1 mutations were found in 157 (40%) of the 392 apparently sporadic cases of optic atrophy. The eOPA1 locus-specific database now contains a total of 204 OPA1 mutations, including 77 novel OPA1 mutations reported here. The statistical analysis of this large set of mutations has led us to propose a diagnostic strategy that should help with the molecular work-up of optic neuropathies. Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease. © 2009 Wiley-Liss, Inc. [source] Prehospital therapeutic hypothermia for comatose survivors of cardiac arrest: a randomized controlled trialACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 7 2009A. KÄMÄRÄINEN Background: Intravenous infusion of ice-cold fluid is considered a feasible method to induce mild therapeutic hypothermia in cardiac arrest survivors. However, only one randomized controlled trial evaluating this treatment exists. Furthermore, the implementation rate of prehospital cooling is low. The aim of this study was to evaluate the efficacy and safety of this method in comparison with conventional therapy with spontaneous cooling often observed in prehospital patients. Methods: A randomized controlled trial was conducted in a physician-staffed helicopter emergency medical service. After successful initial resuscitation, patients were randomized to receive either +4 °C Ringer's solution with a target temperature of 33 °C or conventional fluid therapy. As an endpoint, nasopharyngeal temperature was recorded at the time of hospital admission. Results: Out of 44 screened patients, 19 were analysed in the treatment group and 18 in the control group. The two groups were comparable in terms of baseline characteristics. The core temperature was markedly lower in the hypothermia group at the time of hospital admission (34.1±0.9 °C vs. 35.2±0.8 °C, P<0.001) after a comparable duration of transportation. Otherwise, there were no significant differences between the groups regarding safety or secondary outcome measures such as neurological outcome and mortality. Conclusion: Spontaneous cooling alone is insufficient to induce therapeutic hypothermia before hospital admission. Infusion of ice-cold fluid after return of spontaneous circulation was found to be well tolerated and effective. This method of cooling should be considered as an important first link in the ,cold chain' of prehospital comatose cardiac arrest survivors. [source] Early blood transfusions protect against microalbuminuria in children with sickle cell diseasePEDIATRIC BLOOD & CANCER, Issue 1 2006Ofelia Alvarez MD Abstract Background Microalbuminuria (MA) is an early indicator for glomerulopathy in sickle cell disease (SCD). Procedure We reviewed the medical records of asymptomatic patients ages 4,20 with sickle hemoglobinopathies, who were screened for MA in order to find out its prevalence and risk factors. Results Nineteen of 120 (15.8%) screened patients had MA detected by spot urine (mean albumin absolute value 6.95,±,0.56 mg/dl) and abnormal albumin to creatinine ratios (79.8,±,0.62 mg/g creatinine). Twenty four-hour urine collections confirmed 57% of MA cases by spot urine. There was no difference in hyperfiltration between positive and negative patients. From the MA-positive patients, 15 had SS (16.8% of SS group) and 4 had SC (18% of SC group). Nineteen percent of children 10 years of age or older had MA, as compared to 8% of the younger children (P,=,0.018), demonstrating that increasing age is a risk factor for MA. There was a positive correlation between MA and acute chest syndrome. Young age at start of chronic transfusions was inversely related to MA and therefore renoprotective (P,=,0.03). We did not see a protective effect in the group of patients taking hydroxyurea for a relatively short time, mean age at start of treatment 12,±,5 years; however the sample was small. Conclusions We conclude that: (1) children with sickle cell hemoglobinopathies 10 years or older should be screened for MA and (2) chronic transfusions starting at an early age may be renoprotective. © 2005 Wiley-Liss, Inc. [source] Efficacy and Safety of Tadalafil 20 mg on Demand vs.THE JOURNAL OF SEXUAL MEDICINE, Issue 8 2010Tadalafil 5 mg Once-a-Day in the Treatment of Post-Radiotherapy Erectile Dysfunction in Prostate Cancer Men: A Randomized Phase II Trial ABSTRACT Introduction., The role of phosphodiesterase type 5 inhibitors in the treatment of post-radiotherapy erectile dysfunction (ED) has not been extensively investigated. Aim., To compare the efficacy and safety of on-demand 20-mg tadalafil (arm A) with the newly released tadalafil 5-mg once-a-day dosing (arm B) in patients with ED following radiotherapy for prostate cancer (PC). Methods., Randomized study to receive on-demand 20-mg or once-a-day 5-mg tadalafil for 12 weeks. Main Outcome Measures., Changes in the International Index of Erectile Function (IIEF) domain scores and Sexual Encounter Profile (SEP) question 2 and 3 positive response rates. Results., Fifty-two out of 86 screened patients were randomized. Forty-four patients were evaluable for efficacy. A significant improvement in all domains of the IIEF was observed in both arms (P = 0.0001) with mean erectile function domain scores values of 25 and 27.1 for the 20-mg and 5-mg tadalafil, respectively (P = 0.19). SEP 2 and 3 positive response rates increased from 0% in both arms at baseline to 81% and 70% in the 20-mg arm and 90% and 73% in the 5-mg arm, respectively, at the end of treatment (P = 0.27). End of treatment global efficacy question positive answers were 86% in the 20-mg arm and 95% in the 5-mg arm (P = 0.27). Higher treatment compliance was shown in arm B (100%) as compared with arm A (86%). There was a nonstatistically significant trend toward fewer side effects in favor of the 5-mg daily dose arm. Conclusions., In the study population, both tadalafil formulations generated significantly high response rates according to the outcome measures and were well tolerated. The once-a-day 5-mg dosing showed higher compliance and marginally reduced side effects, thus making it an attractive alternative to on-demand therapy for ED in post-radiotherapy PC patients. Ricardi U, Gontero P, Ciammella P, Badellino S, Valentino F, Munoz F, Guarneri A, Rondi N, Moretto F, Filippi AR, Ragona R, and Tizzani A. Efficacy and safety of tadalafil 20 mg on demand vs. tadalafil 5 mg once-a-day in the treatment of post-radiotherapy erectile dysfunction in prostate cancer men: A randomized phase II trial. J Sex Med 2010;7:2851,2859. [source] Clinical Burden of Screening Asymptomatic Patients for Coronary Artery Disease Prior to Liver TransplantationAMERICAN JOURNAL OF TRANSPLANTATION, Issue 5 2009D. Filì The aim of this study is to assess the clinical burden of silent coronary artery disease (CAD) in cirrhotic candidates for liver transplantation (LT), and to evaluate the usefulness of a CAD screening approach. Between July 1999 and January 2006, we evaluated 627 LT candidates. All of them underwent a detailed clinical history. Sixteen had a previous diagnosis of CAD or symptoms suggestive (2.5%). The remaining 611 underwent further tests according to a predefined protocol, including EKG, echocardiogram and, on the basis of CAD risk factors, heart stress tests. Selective coronary angiography (SCA) was performed in the 30 patients with positive heart stress test: in only 2 did SCA show any CAD, and in both it was subcritical disease requiring neither intervention nor contraindicating LT. The 611 screened patients continued their follow-up until study closure or death. No coronary events occurred in the study population in a mean follow-up of 32.50 months (+/, 23.67 DS). No perioperative mortality related to CAD occurred in the 233 transplanted patients. In conclusion, no prognostic advantage was achieved by following a strict CAD screening protocol, leading us to believe that the cost-effectiveness of a similar screening can be unacceptably high in our setting. [source] Integrating Project ASSERT: A Screening, Intervention, and Referral to Treatment Program for Unhealthy Alcohol and Drug Use Into an Urban Emergency DepartmentACADEMIC EMERGENCY MEDICINE, Issue 8 2010Gail D'Onofrio MD ACADEMIC EMERGENCY MEDICINE 2010; 17:903,911 © 2010 by the Society for Academic Emergency Medicine Abstract Objectives:, The objective was to evaluate the effects of Project Alcohol and Substance Abuse Services Education and Referral to Treatment (ASSERT), an emergency department (ED)-based screening, brief intervention, and referral to treatment program for unhealthy alcohol and other drug use. Methods:, Health promotion advocates (HPAs) screened ED patients for alcohol and/or drug problems 7 days a week using questions embedded in a general health questionnaire. Patients with unhealthy drinking and/or drug use received a brief negotiation interview (BNI), with the goal of reducing alcohol/drug use and/or accepting a referral to a specialized treatment facility (STF), depending on severity of use. Patients referred to an STF were followed up at 1 month by phone or contact with the STF to determine referral completion and enrollment into the treatment program. Results:, Over a 5-year period (December 1999 through December 2004), 22,534 adult ED patients were screened. A total of 10,246 (45.5%) reported alcohol consumption in the past 30 days, of whom 5,533 (54%) exceeded the National Institute on Alcohol Abuse and Alcoholism (NIAAA) guidelines for low-risk drinking. Use of at least one illicit drug was reported by 3,530 patients (15.7%). Over one-fourth of screened patients received BNIs (6,266, or 27.8%). Of these, 3,968 (63%) were referred to an STF. Eighty-three percent of patients were followed at 1 month, and 2,159 (65%) had enrolled in a program. Patients who received a direct admission to an STF were 30 times more likely to enroll than those who were indirectly referred (odds ratio = 30.71; 95% confidence interval = 18.48 to 51.04). After 3 years, funding for Project ASSERT was fully incorporated into the ED budget. Conclusions:, Project ASSERT has been successfully integrated into an urban ED. A direct, facilitated referral for patients with alcohol and other drug problems results in a high rate of enrollment in treatment programs. [source] | ||||||||||