HIV,pathology and epigenetic age acceleration in different human tissues

GeroScience - Epigenetic clocks based on patterns of DNA methylation have great importance in understanding aging and disease; however, there are basic questions to be resolved in their...     

Looking in the Mirror: Expanding Female Leadership in Academic Medicine

Digestive Diseases and Sciences -     

Utilising out-of-hours primary care for assistance with cancer pain: a semi-structured interview study of patient and caregiver experiences

Background

Pain is the most frequent complication of cancer and an important reason for out-of-hours (OOH) primary care contacts by patients with established cancer. Existing quantitative data give little insight into the reason for these contacts. Exploring such encounters of care could highlight ways to improve anticipatory cancer care and communication between daytime and OOH primary care services.

Aim

To explore the experiences, views, and opinions of patients and their caregivers who have used OOH primary care for help with managing cancer pain.

Design and setting

A semi-structured interview study with patients and caregivers who have utilised an OOH primary care service in Grampian, Scotland, because of pain related to cancer.

Method

Semi-structured interviews with 11 patients and four caregivers (n = 15), transcribed verbatim and analysed using framework analysis and, to a lesser extent, inductive thematic analysis.

Results

Six key themes emerged: making sense of pain and predicting its likely course; beliefs about analgesics; priority daytime access; the importance of continuity of care and communication between all involved; barriers and facilitators to seeking help in the OOH period; and satisfaction/dissatisfaction with OOH care. Three prominent sub-themes were: patient knowledge; the influence of a caregiver on decision-making; and the benefits of having a palliative care summary.

Conclusion

Effective daytime and anticipatory care can positively influence OOH care. Interventions that aid patients in understanding cancer pain, communicating about pain, utilising analgesics effectively, and seeking appropriate and timely help may improve cancer pain management.     

Insomnia and incident depression: role of objective sleep duration and natural history

Longitudinal studies that have examined the association of insomnia with incident depression using objective sleep measures are very limited. The aim of this study was to examine the predictive role of the severity of insomnia for incident depression in a general population sample using psychometric and polysomnographic data. From a random, general population sample of 1741 individuals of the Penn State Adult Cohort, 1137 adults without depression were followed up with a structured telephone interview after 7.5 years. All subjects completed a full medical evaluation, 1‐night polysomnogram and Multiphasic Minnesota Personality Inventory at baseline. The incidence of depression was 15%. Poor sleep (odds ratio = 1.5, P = 0.001) and insomnia (odds ratio = 1.9, P = 0.031) were significantly associated with incident depression. The odds of incident depression were highest (odds ratio = 2.2, P = 0.019) in insomnia with objective short sleep duration and independent of Multiphasic Minnesota Personality Inventory Ego Strength scores, an index of poor coping resources. The persistence of insomnia and worsening of poor sleep into insomnia significantly increased the odds of incident depression (odds ratios ranged from 1.8 to 6.3), whereas their full remission did not (odds ratio ranged from 1.2 to 1.8). Insomnia with short sleep duration is associated with incident depression independent of poor coping resources, whereas the association of insomnia with normal sleep duration with incident depression was mediated by poor coping resources. Persistence and worsening of poor sleep or insomnia, but not their full remission, are significant predictors of incident depression. These data suggest that there is a significant relationship between the severity of insomnia and incident depression.     

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Variants in ACTA1, which encodes α-skeletal actin, cause several congenital myopathies, most commonly nemaline myopathy. Autosomal recessive variants comprise approximately 10% of ACTA1 myopathy. All recessive variants reported to date have resulted in loss of skeletal α-actin expression from muscle and severe weakness from birth. Targeted next-generation sequencing in two brothers with congenital muscular dystrophy with rigid spine revealed homozygous missense variants in ACTA1. Skeletal α-actin expression was preserved in these patients. This report expands the clinical and histological phenotype of ACTA1 disease to include congenital muscular dystrophy with rigid spine and dystrophic features on muscle biopsy. This represents a new class of recessive ACTA1 variants, which do not abolish protein expression.     

Ultra-Deep Genomic Sequencing of HCV NS5A Resistance-Associated Substitutions in HCV/HIV Coinfected Patients

Background and Aims

The prevalence of naturally occurring HCV-NS5A resistance-associated substitutions (RAS) to DAA drugs might affect the response to treatment in HCV/HIV coinfected subjects. There are limited data on the frequency of HCV-NS5A naturally occurring drug-RAS at baseline in HCV/HIV coinfected patients when ultra-deep sequencing methodologies are applied.

Methods

HCV-NS5A-RAS were evaluated among 25 subjects in each group. Patients were matched by age, gender, and hepatic fibrosis stage category to control for selection bias.

Results

Within subtype 1a, RAS were observed in 28% of HCV monoinfected and 48% of HCV/HIV coinfected subjects. More patients in the HCV/HIV coinfected group had clinically relevant mutations to DAA directed at NS5A.

Conclusion

While the clinical significance of this observation may be limited in highly drug adherent populations, some HCV/HIV coinfected persons may be at greater risk of viral resistance if suboptimal dosing occurs.

     

Family perspectives on end-of-life care experiences in nursing homes

PURPOSE: The purpose of this study is to expand knowledge regarding end-of-life care received in nursing homes through the use of narrative interviews with family members close to the decedents. DESIGN AND METHODS: We conducted follow-up qualitative interviews with 54 respondents who had participated in an earlier national survey of 1,578 informants. Interviews were taped and transcribed and then coded by a five-member, multidisciplinary team to identify overarching themes. RESULTS: Respondents report that the needs of dying patients are often insufficiently addressed by health care professionals. Their low expectations of nursing homes and their experiences cause many to become vigilant advocates. Respondents report that physicians are often "missing in action," and they desire more and better trained staff. They indicate that regulations reinforce task-focused rather than person-centered care and add to patient and family burden. Although hospice services are reported to enhance end-of-life care, respondents also report late referrals and occasional misunderstandings about the role and scope of hospice. IMPLICATIONS: Sustained efforts on many fronts are needed to improve end-of-life care in nursing homes. Policy recommendations are suggested.