Communication of Recommendations for the Disposal of Unused Prescription Opioid Medications by Stakeholders in the News Media

Objective The opioid epidemic is a national public health emergency that requires a comprehensive approach to reduce opioid-related deaths. Proper and timely disposal of unused prescription opioids is one method to deter improper use of these medications and prevent overdose. The objective of this study was to understand how recommendations for disposing of unused prescription opioids, including both take-back programs and toilet disposal, are communicated to the public. Methods Two hundred sixty-three US newspaper articles published between January 1, 2014, and June 30, 2017, containing information on opioids and take-back programs were found using LexisNexis. Using content analysis, articles were coded for the presentation of and recommendation for opioid disposal practices, beliefs about environmental harm from toilet disposal, and additional strategies to reduce opioid supply. The entity responsible for the statement was also captured. Results Take-back programs were presented as a recommended disposal strategy for unused prescription opioids in 88.6% of coded articles. Toilet disposal was presented as a recommended disposal strategy for unused prescription opioids in 3.4% of articles and as harmful to the environment in 16.0% of articles. Individuals from health care, government, and law enforcement were primarily involved in discussing opioid disposal practices. Conclusions Although toilet disposal is recommended by the US Food and Drug Administration (FDA) for disposal of unused prescription opioids when a take-back program is not readily available, it was infrequently presented or recommended in news media articles. These results highlight the importance of improving communication of FDA guidelines for opioid disposal in the media, particularly by health care providers, government employees, and law enforcement officials

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital anomalies, and dysmorphic features has changed significantly in the last several years with the introduction of microarray technologies. Using these techniques, a patient’s genome can be examined for gains or losses of genetic material too small to be detected by standard G-banded chromosome studies. This increased resolution of microarray technology over conventional cytogenetic analysis allows for identification of chromosomal imbalances with greater precision, accuracy, and technical sensitivity. A variety of array-based platforms are now available for use in clinical practice, and utilization strategies are evolving. Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study

Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

Background: Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. Methods: Data were sourced from the International CDKL5 Disorder Database to which 192 families with a child with a pathogenic CDKL5 mutation had provided data by January 2016. The Short Form 12 Health Survey Version 2, yielding a Physical Component Summary and a Mental Component Summary score, was used to measure primary caregiver's wellbeing. The Beach Center Family Quality of Life Scale was used to measure family quality of life. Linear regression analyses were used to investigate relationships between child and family factors and the various subscale scores. Results: The median (range) age of the primary caregivers was 37.0 (24.6-63.7) years and of the children was 5.2 (0.2-34.1) years. The mean (SD) physical and mental component scores were 53.7 (8.6) and 41.9 (11.6), respectively. In mothers aged 25-54 years the mean mental but not the physical component score was lower than population norms. After covariate adjustment, caregivers with a tube-fed child had lower mean physical but higher mean mental component scores than those whose child fed orally (coefficient = -4.80 and 6.79; p = 0.009 and 0.012, respectively). Child sleep disturbances and financial hardship were negatively associated with the mental component score. The mean (SD) Beach Center Family Quality of Life score was 4.06 (0.66) and those who had used respite services had lower scores than those who had not across the subscales. Conclusions: Emotional wellbeing was considerably impaired in this caregiver population, and was particularly associated with increased severity of child sleep problems and family financial difficulties. Family quality of life was generally rated lowest in those using respite care extensively, suggesting that these families may be more burdened by daily caregiving

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a second series of 22 of 9,254 cases compared with 6 of 6,299 controls (P = 0.028, OR = 2.5). Most deletions were inherited, with carrier parents likely to manifest neuropsychiatric phenotypes compared to non-carrier parents (P = 0.037, OR = 6). Probands were more likely to carry an additional large copy-number variant when compared to matched controls (10 of 42 cases, P = 5.7 x 10(-5), OR = 6.6). The clinical features of individuals with two mutations were distinct from and/or more severe than those of individuals carrying only the co-occurring mutation. Our data support a two-hit model in which the 16p12.1 microdeletion both predisposes to neuropsychiatric phenotypes as a single event and exacerbates neurodevelopmental phenotypes in association with other large deletions or duplications. Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease

Diagnosing Misattribution of Commitments: A Normative and Pragmatic Model of for Assessing Straw Man

This paper builds a nine-step method for determining whether a straw man fallacy has been committed in a given case or not, by starting with some relatively easy textbook cases and moving to more realistic and harder cases. The paper shows how the type of argument associated with the fallacy can be proved to be a fallacy in a normative argumentation model, and then moves on to the practical task of building a hands-on method for applying the model to real examples of argumentation. Insights from linguistic pragmatics are used to distinguish the different pragmatic processes involved in reconstructing what is said and what is meant by an utterance, and to differentiate strong and weak commitments. In particular, the process of interpretation is analyzed in terms of an abductive pattern of reasoning, based on co-textual and contextual information, and assessable through the instruments of argumentation theory

"Those are your words, not mine!" Defence strategies for denying speaker commitment

Language Use in Past and Presen

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, <scp>genotype–phenotype</scp> correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (&gt;60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS‐like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or “DTRs”). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype–phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population