Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype–phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa—epidermolysis bullosa pruriginosa and mild recessive non‐Hallopeau–Siemens—raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.     

Endoscopic dacryocystorhinostomy following radioactive iodine thyroid ablation

This article evaluates the efficacy of endoscopic dacryocystorhinostomy (eDCR) for nasolacrimal duct obstruction (NLDO) in patients exposed to radioactive iodine (RAI) for treatment of thyroid carcinoma. Retrospective chart review of 7 eDCR procedures was performed on 6 patients, aged 18 or older, with prior RAI treatment, who underwent eDCR between January 1, 2008 and December 31, 2013 for treatment of epiphora due to NLDO. Average time to tube removal was 159 days, and average follow-up was 341 days. One patient noted complete epiphora relief at the time of their final visit. Partial symptom relief was noted by 3 patients, and recurrent epiphora was noted by 2 patients. In complex patients with RAI-associated NLDO, eDCR may be a reasonable option for relief of epiphora. Appropriate counseling, including the risks of incomplete symptom relief and need for additional surgery, should be discussed pre-operatively with these patients.     

Health Services Use and Costs in Individuals with Autism Spectrum Disorder in Germany: Results from a Survey in ASD Outpatient Clinics

Journal of Autism and Developmental Disorders - Autism spectrum disorders (ASD) are associated with high services use, but European data on costs are scarce. Utilisation and annual costs of 385...     

Therapist Self-Report of Fidelity to Core Elements of Family Therapy for Adolescent Behavior Problems: Psychometrics of a Pragmatic Quality Indicator Tool

Therapist-report measures of evidence-based interventions have enormous potential utility as quality indicators in routine care; yet, few such tools have shown strong psychometric properties. This study describes reliability and validity characteristics of a therapist-report measure of family therapy techniques for treating adolescent conduct and substance use problems: Inventory of Therapy Techniques for Core Elements of Family Therapy (ITT-CEFT). Study participants included 31 staff therapists treating 68 adolescent clients in eight community-based mental health and substance use clinics. Therapists submitted ITT-CEFT checklists and companion audio recordings for 189 sessions. The ITT-CEFT contains 13 techniques identified as core elements of three manualized family therapy models that are empirically supported for the target group. Therapists also reported on their use of three motivational interventions, and independent observers coded the submitted recordings. ITT-CEFT factor validity was shown via confirmatory factor analyses of the tool’s theoretical structure. Derived modules were: Family Engagement (four items; Cronbach’s α?=?.72); Relational Orientation (five items; α?=?.74); and Interactional Change (four items; α?=?.66). Concurrent validity analyses showed fair-to-excellent therapist reliability compared to observer ratings (ICCs range .64–.75); they showed moderate therapist accuracy compared to observer mean scores, reflecting a tendency to overestimate delivery of the techniques. Discriminant validity analyses showed tool differentiation from motivational interventions. Results offer provisional evidence for the feasibility of using the therapist-report ITT-CEFT to anchor quality procedures for family therapy interventions in real-world settings.

Trial Registration: The parent clinical trial is registered at www.ClinicalTrials.gov, ID: NCT03342872 (registration date: 11.10.17).

     

Eveningness and poor sleep quality independently contribute to self-reported depression severity in psychiatric inpatients with affective disorder

Background Chronotype and insomnia have been related to the development and to an unfavourable course of depression. However, the mutual relationship of both risk factors is as yet unclear, especially in acute, clinically manifest depressive disorders. Aims The present study was carried out to elucidate the separate direct and indirect influence of chronotype and poor sleep quality on depression severity in patients hospitalized for depression. Methods Depression severity (BDI-II), chronotype (Morningness–Eveningness Questionnaire), and subjective sleep quality (Pittsburgh Sleep Quality Index total score) were assessed concurrently in inpatients with a depressive syndrome and insomnia during routine treatment. Correlations, multiple regression and bootstrapping methods for testing mediation models were applied to assess the independent direct and indirect effects of chronotype and sleep quality on depression severity, after adjusting for effects of age and gender. Results Data from 57 consecutively admitted patients (88% with major depression) were analyzed (68% women, mean age 41?±?13 years). Significant correlations between morningness–eveningness (p?<0.05) or sleep quality (p?<0.01) and depression severity were found; in a multiple regression model comprising chronotype, sleep quality, age and gender, only chronotype (p?<0.05) and sleep disturbances (p?<0.01) remained as independent significant concurrent predictors of depression severity (R²?=?0.184, p?<0.01). Two mediation models revealed no significant results. Conclusions Eveningness and poor subjective sleep quality were independently and directly associated with higher depression severity in inpatients with depressive syndromes. Chronotype and sleep quality should be taken into account not only in risk assessment and prevention but also in hospitalized patients to develop and improve treatment options.     

Case Report and Cohort Analysis of Drug-Induced Liver Injury Associated with Daptomycin

A patient receiving daptomycin developed asymptomatic transaminitis and hyperbilirubinemia without concurrent multiorgan dysfunction or elevation of his creatinine kinase level. After ruling out other etiologies, the liver injury was attributed to daptomycin and was subsequently resolved. A single-center retrospective cohort analysis of baseline and follow-up liver function panels (n = 614) from all admissions from 2008 to 2013 during which daptomycin was administered did not reveal any other cases of probable or definite drug-induced liver injury associated with daptomycin.