scholarly journals Pharmacodynamic Gene Testing in Prader-Willi Syndrome

2020 ◽  
Vol 11 ◽  
Author(s):  
Janice Forster ◽  
Jessica Duis ◽  
Merlin G. Butler
Keyword(s):  
Small Sample Size ◽  
Genetic Disorder ◽  
Statistical Significance ◽  
Case Series ◽  
Population Data ◽  
Small Sample ◽  
Prader Willi Syndrome ◽  
Gene Testing ◽  
Co Morbidity ◽  
Genetic Subtype

Prader-Willi syndrome (PWS) is a rare genetic disorder with a complex neurobehavioral phenotype associated with considerable psychiatric co-morbidity. This clinical case series, for the first time, describes the distribution and frequency of polymorphisms of pharmacodynamic genes (serotonin transporter, serotonin 2A and 2C receptors, catechol-o-methyltransferase, adrenergic receptor 2A, methylene tetrahydrofolate reductase, and human leucocytic antigens) across the two major molecular classes of PWS in a cohort of 33 referred patients who met medical criteria for testing. When results were pooled across PWS genetic subtypes, genotypic and allelic frequencies did not differ from normative population data. However, when the genetic subtype of PWS was examined, there were differences observed across all genes tested that may affect response to psychotropic medication. Due to small sample size, no statistical significance was found, but results suggest that pharmacodynamic gene testing should be considered before initiating pharmacotherapy in PWS. Larger scale studies are warranted.

scholarly journals Questioning COVID-19 Surface Stability and Fomite Spreading in Three Aeromedical Cases: A Case Series

2020 ◽  
Author(s):  
Sean Horoho ◽  
Stephen Musik ◽  
David Bryant ◽  
William Brooks ◽  
Ian M Porter
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Close Contact ◽  
Small Sample Size ◽  
Case Series ◽  
Small Sample ◽  
Posture Analysis ◽  
Surface Stability ◽  
Single Positive ◽  
Means Of Transmission ◽  
Respiratory Droplets

ABSTRACT It is well established that coronavirus disease 2019 is primarily transmitted through respiratory droplets, and there is mounting research speculation that it may also be transmitted via fomites. Several studies have shown that the virus can persist on both porous and nonporous surfaces for hours to days, depending upon the material. This article examines three cases of polymerase chain reaction–proven severe acute respiratory syndrome coronavirus 2 infection with several additional individuals meeting CDC close contact criteria. In 1 case, 195 downstream contacts were all tested to prevent a mass outbreak in a deployment posture. Analysis of these contacts yielded only a single positive test, which could be reasonably ascribed to respiratory droplet transmission. While these cases and their contacts ultimately represent a small sample size, we suggest fomite spread may not be a significant means of transmission for severe acute respiratory syndrome coronavirus 2 in real-world operational scenarios.

Combination of AST to ALT and neutrophils to lymphocytes ratios as predictors of locally advanced disease in patients with bladder cancer subjected to radical cystectomy: Results from a single-institutional series

2021 ◽  
pp. 039156032110351
Author(s):  
Alessandro Uleri ◽  
Rodolfo Hurle ◽  
Roberto Contieri ◽  
Pietro Diana ◽  
Nicolòmaria Buffi ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Radical Cystectomy ◽  
Advanced Disease ◽  
Independent Predictor ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Locally Advanced ◽  
Small Sample ◽  
Locally Advanced Disease ◽  
Increased Risk

Background: Bladder cancer (BC) staging is challenging. There is an important need for available and affordable predictors to assess, in combination with imaging, the presence of locally-advanced disease. Objective: To determine the role of the De Ritis ratio (DRR) and neutrophils to lymphocytes ratio (NLR) in the prediction of locally-advanced disease defined as the presence of extravescical extension (pT ⩾ 3) and/or lymph node metastases (LNM) in patients with BC treated with radical cystectomy (RC). Methods: We retrospectively analyzed clinical and pathological data of 139 consecutive patients who underwent RC at our institution. Logistic regression models (LRMs) were fitted to test the above-mentioned outcomes. Results: A total of 139 consecutive patients underwent RC at our institution. Eighty-six (61.9%) patients had a locally-advanced disease. NLR (2.53 and 3.07; p = 0.005) and DRR (1 and 1.17; p = 0.01) were significantly higher in patients with locally-advanced disease as compared to organ-confined disease. In multivariable LRMs, an increasing DRR was an independent predictor of locally-advanced disease (OR = 3.91; 95% CI: 1.282–11.916; p = 0.017). Similarly, an increasing NLR was independently related to presence of locally-advanced disease (OR = 1.28; 95% CI: 1.027–1.591; p = 0.028). In univariate LRMs, patients with DRR > 1.21 had a higher risk of locally advanced disease (OR = 2.83; 95% CI: 1.312–6.128; p = 0.008). Similarly, in patients with NLR > 3.47 there was an increased risk of locally advanced disease (OR = 3.02; 95% CI: 1.374–6.651; p = 0.006). In multivariable LRMs, a DRR > 1.21 was an independent predictor of locally advanced disease (OR = 2.66; 95% CI: 1.12–6.35; p = 0.027). Similarly, an NLR > 3.47 was independently related to presence of locally advanced disease (OR = 2.24; 95% CI: 0.95–5.25; p = 0.065). No other covariates such as gender, BMI, neoadjuvant chemotherapy or diabetes reached statistical significance. The AUC of the multivariate LRM to assess the risk of locally advanced disease was 0.707 (95% CI: 0.623–0.795). Limitations include the retrospective nature of the study and the relatively small sample size.

Internet-based intervention compared to brief intervention for smoking cessation in Brazil: a pilot study (Preprint)

2021 ◽  
Author(s):  
Nathalia Machado ◽  
Henrique Gomide ◽  
Heder Bernardino ◽  
Telmo Ronzani
Keyword(s):  
Smoking Cessation ◽  
Brief Intervention ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Healthcare Providers ◽  
Intervention Group ◽  
Small Sample ◽  
The Internet ◽  
Intention To Treat ◽  
Internet Based Intervention

BACKGROUND Smoking is still the leading cause of preventable death. Governments and healthcare providers should make available more and accessible resources to help tobacco users stop. OBJECTIVE This study describes a pilot longitudinal study that evaluated the efficacy of a computerized intervention compared to the brief intervention for smoking cessation among Brazilians. METHODS Smokers were recruited and randomly assigned to one of the two intervention groups. RESULTS The results showed similar rates of cessation and reduction for both intervention groups. The internet-based intervention was a little more effective for smoking cessation, while the brief intervention was more effective in reducing the number of cigarettes smoked per day. Despite this, this difference was small and had no statistical significance even after adjusting for intention-to-treat analysis. These results should be interpreted with caution, especially due to the small sample size. CONCLUSIONS Forty-nine smokers were enrolled in this study (25 in the brief intervention group; 24 in the internet-based intervention group). The mean age was 44.46 years old; most were male (59.2%), had elementary school (44.9%), smoked an average of 14.5 cigarettes per day, had a mean score of 4.65 for nicotine dependence, and score of 5.7 for motivation to quit. Measures were drawn from comparing cessation rate, motivation score and sought treatment between groups. Thirty-five participants answered the follow up 1 and 19 answered to the second.

Case series: COVID-19 infection causing new-onset diabetes mellitus?

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Rujuta Katkar ◽  
Narasa Raju Madam
Keyword(s):  
Diabetes Mellitus ◽  
Severe Acute Respiratory Syndrome ◽  
Cell Damage ◽  
Small Sample Size ◽  
Case Series ◽  
Small Sample ◽  
Onset Diabetes ◽  
History Of ◽  
New Onset Diabetes Mellitus ◽  
New Onset

Objectives: This paper seeks to explore the hypothesis of the potential diabetogenic effect of SARS-COV-2 (Severe Acute respiratory syndrome coronavirus). Case series presentation: We present a case series of observation among 8 patients of age group ranging from 34 to 74 years with a BMI range of 26.61 to 53.21 Kilogram/square meters that developed new-onset diabetes after COVID-19 infection. Severe Acute Respiratory Syndrome Coronavirus (SARS-COV-2), commonly known as Coronavirus or COVID-19(Coronavirus infectious disease), gains entry into the cells by binding to the Angiotensin-converting enzyme-2(ACE-2) receptors located in essential metabolic tissues including the pancreas, adipose tissue, small intestine, and kidneys. The evidence reviewed from the scientific literature describes how ACE 2 receptors play a role in the pathogenesis of diabetes and the plausible interaction of SARS-COV-2 with ACE 2 receptors in metabolic organs and tissues. Conclusion: The 8 patients without a past medical history of diabetes admitted with COVID-19 infection developed new-onset diabetes mellitus due to plausible interaction of SARS-COV-2 with ACE 2 receptors. The resulting downregulation of ACE-2 and ACE-2 receptors expression caused islet-cell damage resulting into diabetes. The resulting observation has the potential to adversely impact significant number of the globally affected population. Screening patients with COVID-19 for diabetes routinely can help in early detection, significantly reducing morbidity and mortality associated with diabetes. Due to limitations of observational study with a small sample size will require further investigation in the form of Clinical trial.

scholarly journals Systematic Review and Meta-Analysis of Linezolid and Daptomycin for Treatment of Vancomycin-Resistant Enterococcal Bloodstream Infections

2013 ◽  
Vol 57 (10) ◽  
pp. 5013-5018 ◽  
Author(s):  
Donald W. Whang ◽  
Loren G. Miller ◽  
Neil M. Partain ◽  
James A. McKinnell
Keyword(s):  
Systematic Review ◽  
Clinical Trials ◽  
Fixed Effects ◽  
Randomized Clinical Trials ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Bloodstream Infections ◽  
Small Sample ◽  
Antibiotic Selection ◽  
Vancomycin Resistant

ABSTRACTBloodstream infections due to vancomycin-resistant enterococci (VRE-BSI) result in substantial patient mortality and cost. Daptomycin and linezolid are commonly prescribed for VRE-BSI, but there are no clinical trials to determine optimal antibiotic selection. We conducted a systematic review for investigations that compared daptomycin and linezolid for VRE-BSI. We searched Medline from 1966 through 2012 for comparisons of linezolid and daptomycin for VRE-BSI. We included searches of EMBASE, clinicaltrials.gov, and national meetings. Data were extracted using a standardized instrument. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using a fixed-effects model. Our search yielded 4,243 publications, of which 482 contained data on VRE treatment. Most studies (452/482) did not present data on BSI or did not provide information on linezolid or daptomycin. Among the remaining 30 studies, 9 offered comparative data between the two agents. None were randomized clinical trials. There was no difference in microbiologic (n= 5 studies, 517 patients; OR, 1.0; 95% CI, 0.4 to 1.7;P= 0.95) and clinical (n= 3 studies, 357 patients; OR, 1.2; 95% CI, 0.7 to 2.0;P= 0.7) cures between the two antibiotics. There was a trend toward increased survival with linezolid compared to daptomycin treatment (n= 9 studies, 1,074 patients; OR, 1.3; 95% CI, 1.1 to 1.8;I2= 0 [whereI2is a measure of inconsistency]), but this did not reach statistical significance (P= 0.054). There are limited data to inform clinicians on optimal antibiotic selection for VRE-BSI. Available studies are limited by small sample size, lack of patient-level data, and inconsistent outcome definitions. Additional research, including randomized clinical trials, is needed before conclusions can be drawn about treatment options for VRE therapy.

scholarly journals Hodgkin lymphoma arising in patients with chronic lymphocytic leukemia: outcomes from a large multi-center collaboration

Haematologica ◽  
2020 ◽  
pp. 0-0
Author(s):  
Deborah M. Stephens ◽  
Ken Boucher ◽  
Elizabeth Kander ◽  
Sameer A. Parikh ◽  
Erin M. Parry ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Hodgkin Lymphoma ◽  
Hematopoietic Cell Transplantation ◽  
Small Sample Size ◽  
Case Series ◽  
Standard Of Care ◽  
Median Number ◽  
Small Sample ◽  
Lymphocytic Leukemia ◽  
Treatment Type

Chronic lymphocytic leukemia (CLL) patients who develop Hodgkin lymphoma (HL) have limited survival. No current therapeutic standard of care exists. We conducted a multi-center retrospective study of patients with Hodgkin Transformation (HT) of CLL. Clinicobiologic characteristics, treatment type, and survival outcomes were analyzed and compared with historic case series. Ninety-four patients were identified. Median age at HT was 67 years (range, 38-85). Median time from CLL diagnosis to HT was 5.5 years (range, 0-20.2). Prior to HT, patients received a median of 2 therapies for CLL (range, 0-12). As initial therapy for HT, 61% (n=62) received ABVD-based regimens (adriamycin, bleomycin, vinblastine, and dacarbazine). Seven (7%) patients received hematopoietic cell transplantation (HCT) while in first complete remission (CR1). The median number of treatments for HT per patient was 1 (range, 0-5) with 59 (61%) patients only receiving one line of therapy. After HT, patients had a median follow-up of 1.6 years (range, 0-15.1). Two-year overall survival (OS) after HT diagnosis was 72% (95%CI 62-83%). The patients who received standard ABVD-based therapy had a median OS of 13.2 years. Although limited by small sample size, the patients who underwent HCT for HT in CR1 had a similar 2-year OS (n=7; 67%) compared to patients who did not undergo HCT for HT in CR1 (n=87; 72%; p=0.46). In this multi-center study, HT patients treated with ABVD-based regimens had prolonged survival supporting the use of these regimens as standard of care for these patients.

Unsubstantiated conclusions about the Family Star Plus as an outcome measure: a rebuttal to Sweet, Winter, Neeson and Connolly (2020)

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Anna Good ◽  
Joy MacKeith
Keyword(s):  
Ordinal Data ◽  
Design Methodology ◽  
Outcome Measure ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Reliability And Validity ◽  
Small Sample ◽  
Content Type ◽  
Outcomes Measures ◽  
The Family

Purpose The purpose of this article is to explain why Sweet et al.'s assertions are not well founded and raise unsubstantiated doubt over the use of the Family star Plus and the Outcomes Star suite of tools as outcomes measures. Design/methodology/approach Evidence is presented of flaws in the analysis, reporting and conclusions of an article published in this journal (Sweet et al., 2020). Findings Sweet et al. failed to mention a body of Outcomes Star validation work, including over 20 online reports and a manuscript they had seen of a now published article supporting the reliability and validity of the Family Star Plus (Good and MacKeith, 2020). There are significant issues with their methodology, presentation of results and conclusions including: reliance on statistical significance with a small sample size; use of statistics not intended for ordinal data and; and inappropriate conclusions from convergence with measures conceptually different to the Family Star Plus. Originality/value Evidence is presented that the Family Star Plus is a useful and valid outcome measure and that Sweet et al.’s conclusions can be attributed to issues with their methodology and interpretation.

Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial

2021 ◽  
pp. bjophthalmol-2021-319067
Author(s):  
Felix Friedrich Reichel ◽  
Stylianos Michalakis ◽  
Barbara Wilhelm ◽  
Ditta Zobor ◽  
Regine Muehlfriedel ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Primary Endpoint ◽  
Statistical Power ◽  
Small Sample Size ◽  
Controlled Trial ◽  
Statistical Significance ◽  
Small Sample ◽  
Functional Improvement ◽  
Limiting Factor ◽  
Serious Adverse Events

AimsTo determine long-term safety and efficacy outcomes of a subretinal gene therapy for CNGA3-associated achromatopsia. We present data from an open-label, nonrandomised controlled trial (NCT02610582).MethodsDetails of the study design have been previously described. Briefly, nine patients were treated in three escalating dose groups with subretinal AAV8.CNGA3 gene therapy between November 2015 and October 2016. After the first year, patients were seen on a yearly basis. Safety assessment constituted the primary endpoint. On a secondary level, multiple functional tests were carried out to determine efficacy of the therapy.ResultsNo adverse or serious adverse events deemed related to the study drug occurred after year 1. Safety of the therapy, as the primary endpoint of this trial, can, therefore, be confirmed. The functional benefits that were noted in the treated eye at year 1 were persistent throughout the following visits at years 2 and 3. While functional improvement in the treated eye reached statistical significance for some secondary endpoints, for most endpoints, this was not the case when the treated eye was compared with the untreated fellow eye.ConclusionThe results demonstrate a very good safety profile of the therapy even at the highest dose administered. The small sample size limits the statistical power of efficacy analyses. However, trial results inform on the most promising design and endpoints for future clinical trials. Such trials have to determine whether treatment of younger patients results in greater functional gains by avoiding amblyopia as a potential limiting factor.

scholarly journals Library orientation practices in special libraries

2020 ◽  
Vol 48 (4) ◽  
pp. 525-536
Author(s):  
Melissa Fraser-Arnott
Keyword(s):  
Information Needs ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Academic Library ◽  
Small Sample ◽  
Orientation Program ◽  
Content Type ◽  
Special Library ◽  
Library Staff ◽  
Host Organization

Purpose The library orientation session is an important marketing tool because it offers the first opportunity for library staff to connect with new clients (Craft and Ballard-Thrower, 2011; Rhoades and Hartsell, 2008). This paper aims to explore library orientation practices in special libraries and information centers with the goal of surveying current practices and identifying guidance for successful orientation program design and delivery. Design/methodology/approach This study explored library orientation practices in special libraries and information services through an electronic survey. The survey questions were developed based on themes that emerged from case studies on library orientations from the academic library literature. These themes included reasons for library orientation program redesigns, the importance of partnerships in orientation design and delivery and the tools and techniques used in the delivery of orientation sessions. Findings The results revealed that library orientations are taking place in special libraries, but there is no consistent approach to library orientation delivery. Even within a single library, multiple approaches to library orientations are taken based on client availability, demand and information needs observations of library staff. Participants’ responses were analyzed to develop recommendations for special library orientations. These include developing partnerships (particularly with human resource departments), using technology strategically, considering the timing of orientations for new potential clients in relation to their start as new employees in the host organization, customizing library orientations based on client segment, engaging in ongoing outreach, and being flexible in design and delivery methods. Research limitations/implications This study represents a starting step in an exploration of library orientation practices in special libraries. The key limitation of this study was the low response rate leading to small sample size. A larger sample of special libraries would be needed to produce a quantitative analysis of the prevalence of practices with an acceptable degree of statistical significance. Alternately, smaller samples of special libraries organized by characteristics such as size or type (e.g. corporate libraries, law libraries and medical libraries) could be conducted to determine if distinctive trends exist within these special library types. Practical implications This study revealed information about key practices and challenges that can be used by special library practitioners seeking to implement or redesign a library orientation program in their library. Originality/value While academic and practitioner literature exists detailing library orientation activities in academic and school libraries, there are very few papers on special library orientations. This study fills a gap in the literature by investigating library orientation practices in special libraries and information centers.

scholarly journals Coronavirus disease-2019 in cancer patients. A report of the first 25 cancer patients in a western country (Italy)

2020 ◽  
Vol 16 (20) ◽  
pp. 1425-1432 ◽  
Author(s):  
Elisa Maria Stroppa ◽  
Ilaria Toscani ◽  
Chiara Citterio ◽  
Elisa Anselmi ◽  
Elena Zaffignani ◽  
...  
Keyword(s):  
Sample Size ◽  
Antiviral Therapy ◽  
Cancer Patients ◽  
General Hospital ◽  
Small Sample Size ◽  
Statistical Significance ◽  
Western Country ◽  
Small Sample ◽  
Control Group ◽  
Worse Prognosis

Background: We describe cancer patients with coronavirus disease-2019 (COVID-19) infection treated at the Piacenza’s general hospital (north Italy). Materials & methods: 25 cancer patients infected by COVID-19 admitted at the Piacenza’s general hospital from 21 February to 18 March 2020. Outcome from the infection were compared with infected noncancer patients. Results: 20 patients (80%) were treated with antiviral therapy and hydroxychloroquine and five (20%) received hydroxychloroquine alone. Nine (36%) patients died, while 16 (64%) overcome the infection. In the control group the mortality was 16.13% and the overcome from infection was 83.87%. Conclusion: Mortality for COVID-19 was greater in cancer patients when compared with noncancer patients, worse prognosis for older age, women and patients treated with hydroxychloroquine alone. However, the comparisons did not reach statistical significance in most cases. This could be due to the small sample size that is the main limitation of the study.

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