Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation

Hairy cell leukemia (HCL) is a distinct clinicopathologic entity that responds well to purine analogs but is sometimes difficult to differentiate from HCL-like disorders (e.g., splenic marginal zone lymphoma and HCL variant). We recently identified the BRAF-V600E mutation as the disease-defining genetic event in HCL. In this study, we describe a new, simple, and inexpensive test for genetics-based diagnosis of HCL in whole-blood samples that detects BRAF-V600E through a sensitive allele-specific PCR qualitative assay followed by agarose-gel electrophoresis. This approach detected BRAF-V600E in all 123 leukemic HCL samples investigated containing as few as 0.1% leukemic cells. BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. Conversely, 115 non-HCL chronic B-cell neoplasms, including 79 HCL-like disorders, were invariably negative for BRAF-V600E. This molecular assay is a powerful tool for improving the diagnostic accuracy in HCL.     

The Tachykinin Peptide Neurokinin B Binds Copper Forming an Unusual [CuII(NKB)2] Complex and Inhibits Copper Uptake into 1321N1 Astrocytoma Cells

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Rating data are underrated: Validity of US expectancy in human fear conditioning

Background and objectivesHuman fear conditioning is widely regarded as one of the prime paradigms for the study of fear and anxiety disorders. We provide an evaluation of a commonly used subjective measure in the human fear conditioning paradigm, namely the US-expectancy measurement.MethodsWe assess the validity of US-expectancy with respect to conditions of pathological fear and anxiety using four established criteria for scrutiny of a laboratory test or model (i.e., face validity, diagnostic validity, predictive validity, construct validity).ResultsArguably, there is sufficient evidence for the face validity, diagnostic validity, predictive validity and construct validity of the US-expectancy measure.LimitationsPresumed limitations of the US-expectancy measure, including its susceptibility to experimental demand and memory bias, are discussed.ConclusionsThe US-expectancy measure is a valuable measurement method that can be effectively used in research that aims to enhance our understanding of fear and anxiety disorders.     

Effectiveness of a multi-country workplace intervention in sub-Saharan Africa

This paper examines whether a multi-country workplace peer education HIV prevention program is effective in influencing knowledge, attitudes and behavior in a highly educated and technically skilled workforce. Self-administered surveys were used to measure change among N=993 male and female workers exposed to a comprehensive and culturally-appropriate program. Most knowledge indicators and all attitude indicators showed significant improvement between baseline and post-intervention. The odds ratio was 2.48 for reporting confidence in using condoms correctly after exposure to the program compared with the baseline survey. The results on changes in practice were mixed; while respondents were more likely to report being tested for HIV post-intervention, they were also more likely to self-report risky behavior. The findings suggest that peer education prevention programs in the workplace may create a climate of open discussion about sexual issues that increases self-reporting of risk behavior. Reinforcement of the messages contained in the program is therefore extremely important for influencing future behavior change.     

A practitioner's guide to developing critical appraisal skills: observational studies

BACKGROUND: and Overview. Observational investigations provide an opportunity to document the distribution of diseases in various populations and to explore correlations between exposures and outcomes. Interpreting such correlations as causal is challenging and can lead to more harm than good when used as a basis for advising lifestyle changes or interventions to healthy people. The aim of this review is to provide a brief introduction to observational study designs and describe some of their strengths and weaknesses. CONCLUSIONS AND PRACTICE IMPLICATIONS: Observational findings can be useful to guide clinical research, but often they do not provide a reliable basis for clinical decision making. Caution in applying observational findings to clinical practice is particularly important when caring for healthy people.     

The applause sign in cortical and cortical-subcortical dementia

The “applause sign” is a motor perseveration described in focal and neurodegenerative disorders and characterized by fronto-subcortical dysfunction. Most previous formal investigations focused on Parkinson’s disease or progressive supranuclear palsy. We assessed the prevalence of the applause sign in patients affected by Alzheimer’s disease (AD), Lewy body dementia (LBD), corticobasal syndrome (CBS), and posterior cortical atrophy (PCA), with the aim to verify its contribution to the differential diagnosis. We enrolled 20 patients with AD, 20 with LBD, 16 with CBS, and ten with PCA, and 30 healthy controls. The three clap test (TCT) was used to elicit the applause sign, and was scored by raters blinded to the diagnosis. Correlation with motor (extrapyramidal) and cognitive measures was also performed. A maximum 40 % prevalence of a positive applause sign was found in the two parkinsonian syndromes, which could be discriminated from the two cortical groups with a positive predictive value of 82 % and a negative predictive value of 55 %. According to our findings, a diagnosis of LBD or CBS, rather than of AD or PCA, is highly probable in the presence of an abnormal TCP, but cannot be ruled out based on a negative result. No relevant correlates emerged that could clarify the origin and nature of the applause sign.     

Using iPods® and iPads® in teaching programs for individuals with developmental disabilities: A systematic review

We conducted a systematic review of studies that involved iPods^®, iPads^®, and related devices (e.g., iPhones^®) in teaching programs for individuals with developmental disabilities. The search yielded 15 studies covering five domains: (a) academic, (b) communication, (c) employment, (d) leisure, and (e) transitioning across school settings. The 15 studies reported outcomes for 47 participants, who ranged from 4 to 27 years of age and had a diagnosis of autism spectrum disorder (ASD) and/or intellectual disability. Most studies involved the use of iPods^® or iPads^® and aimed to either (a) deliver instructional prompts via the iPod Touch^® or iPad^®, or (b) teach the person to operate an iPod Touch^® or iPad^® to access preferred stimuli. The latter also included operating an iPod Touch^® or an iPad^® as a speech-generating device (SGD) to request preferred stimuli. The results of these 15 studies were largely positive, suggesting that iPods^®, iPod Touch^®, iPads^®, and related devices are viable technological aids for individuals with developmental disabilities.     

Mouthwashes in the 21st century: a narrative review about active molecules and effectiveness on the periodontal outcomes

Introduction: Poor oral hygiene is a major risk factor for oral diseases. Regular home-based care is essential to maintain good oral hygiene. In particular, mouthrinses can support conventional tooth brushing in reducing accumulation of oral plaque.

Areas covered: The most common molecules contained in mouthrinses (chlorhexidine, essential oils, cetyl pyridinium chloride, triclosan, octeneidine, delmopinol, polyvinylpyrrolidone, hyaluronic acid, natural compounds) are discussed, together with relevant clinical and in vitro studies, focusing on their effects on periodontal health. Currently, chlorhexidine is the most efficacious compound, with both antiplaque and antibacterial activities. Similar results are reported for essential oils and cetyl pyridinium chloride, although with a somewhat reduced efficacy. Considering the adverse effects of chlorhexidine and its time-related characteristics, this molecule may best be indicated for acute/short-term use, while essential oils and cetyl pyridinium chloride may be appropriate for long-term, maintenance treatment.

Expert opinion: The literature has not clearly demonstrated which compound is the best for mouthrinses that combine good efficacy and acceptable side effects. Research should focus on substances with progressive antibacterial activity, prompting a gradual change in the composition of oral biofilm and mouthrinses that combine two or more molecules acting synergistically in the mouth.     

Clinical features and cognitive sequelae in COVID-19: a retrospective study on N=152 patients

Neurological Sciences - The novel human coronavirus (SARS-CoV-2) shows neurotropism and systemically affects the central nervous system (CNS). Cognitive deficits have been indeed reported as both...