Resolution of Persistent COVID-19 After Convalescent Plasma in a Patient with B Cell Aplasia

Journal of Clinical Immunology -     

Family-centered communication: A pilot educational intervention using deliberate practice and patient feedback

ObjectiveThere are few opportunities in medical education dedicated to learning skills for effective communication in life altering patient scenarios. We therefore aimed to develop and assess a longitudinal advanced communication curriculum for pediatric residents using patient feedback and deliberate practice.MethodsPediatric residents at a large academic center were randomized into 2 groups. The intervention group received 6 educational sessions from 2019 to 2020, parent feedback of performance via the Communication Assessment Tool (CAT), and monthly communication tips. Communication skills of both groups were assessed at the end of the intervention.ResultsWe collected 937 CAT assessments on 36 first-year residents. The intervention group demonstrated statistically significant improvement in communication skills from pre to post assessment (p = 0.0063, (odds ratio (OR) 1.76, 95 % confidence interval (CI) [1.17, 2.63]) compared to the control group (p = 0.080, OR 1.41, 95 % CI [0.96, 2.05]).ConclusionsThere are patient and self-identified performance gaps in communication skills for pediatric residents, underscoring the need for formalized curricula dedicated to these skills.Practice implicationsOur study highlights the value of deliberate practice and the integration of family feedback as an educational tool in communication skills development.     

The COVID-19 anxiety syndrome and selective attentional bias towards COVID-19-related stimuli in UK residents during the 2020–2021 pandemic

The psychological and social effects of the COVID-19 pandemic are pervasive, and there is potential for a long-lasting impact on mental health. In the current study, we sought to provide, in a representative sample of UK residents during the third COVID-19 lockdown in February 2021, further evidence for the validation of the COVID-19 anxiety syndrome construct. We did this by evaluating the COVID-19 anxiety syndrome against measures of personality, health anxiety and COVID-19 anxiety in predicting levels of generalized anxiety and depression and by examining whether increased health anxiety and COVID-19 psychological distress (COVID-19 anxiety and COVID-19 anxiety syndrome) scores were associated with increased attentional bias to COVID-19-related stimuli. A series of correlation analyses revealed that neuroticism, health anxiety, COVID-19 anxiety and COVID-19 anxiety syndrome scores were positively and significantly correlated with generalized anxiety and depression scores and that the perseveration component of the COVID-19 anxiety syndrome predicted generalized anxiety and depression scores independently of age, gender, conscientiousness, openness, health anxiety and COVID-19 anxiety. Furthermore, results indicated that only the total COVID-19 anxiety syndrome score and the scores on the avoidance and perseveration components were positively and significantly correlated with attentional bias indices. More specifically, the general attentional bias index was only shown to be positively and significantly correlated with the total COVID-19 anxiety syndrome score and its perseveration component, while slowed disengagement was only shown to be negatively and significantly correlated with the total COVID-19 anxiety syndrome score and its avoidance component. The implications of these findings are discussed.     

Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease.     

Non-invasive prenatal testing for single gene disorders: exploring the ethics

Non-invasive prenatal testing for single gene disorders is now clearly on the horizon. This new technology offers obvious clinical benefits such as safe testing early in pregnancy. Before widespread implementation, it is important to consider the possible ethical implications. Four hypothetical scenarios are presented that highlight how ethical ideals of respect for autonomy, privacy and fairness may come into play when offering non-invasive prenatal testing for single gene disorders. The first scenario illustrates the moral case for using these tests for ‘information only'', identifying a potential conflict between larger numbers of women seeking the benefits of the test and the wider social impact of funding tests that do not offer immediate clinical benefit. The second scenario shows how the simplicity and safety of non-invasive prenatal testing could lead to more autonomous decision-making and, conversely, how this could also lead to increased pressure on women to take up testing. In the third scenario we show how, unless strong safeguards are put in place, offering non-invasive prenatal testing could be subject to routinisation with informed consent undermined and that woman who are newly diagnosed as carriers may be particularly vulnerable. The final scenario introduces the possibility of a conflict of the moral rights of a woman and her partner through testing for single gene disorders. This analysis informs our understanding of the potential impacts of non-invasive prenatal testing for single gene disorders on clinical practice and has implications for future policy and guidelines for prenatal care.     

Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics

We describe a sensitive technique for mutation detection using clonal sequencing. We analyzed DNA extracted from 13 cancer cell lines and 35 tumor samples and applied a novel approach to identify disease‐associated somatic mutations. By matching reads against an index of known variants, noise can be dramatically reduced, enabling the detection and quantification of those variants, even when they are present at less than 1% of the total sequenced population; this is comparable to, or better than, current diagnostic methods. Following the identification or exclusion of known variants, unmatched reads are grouped for BLAST searching to identify novel variants or contaminants. Known variants, novel variants, and contaminants were readily identified in tumor tissue using this approach. Our approach also enables an estimation of the per‐base sequencing error rate, providing a confidence threshold for interpretation of the results in the clinic. This novel approach has immediate applicability to clinical testing for disease‐associated genetic variants.