Xeroderma pigmentosum-variant patients from America, Europe, and Asia

Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin cancer risk. Their cells have normal nucleotide excision repair, but have defects in the POLH gene encoding an error-prone polymerase, DNA polymerase eta (pol eta). To survey the molecular basis of XP-V worldwide, we measured pol eta protein in skin fibroblasts from putative XP-V patients (aged 8-66 years) from 10 families in North America, Turkey, Israel, Germany, and Korea. Pol eta was undetectable in cells from patients in eight families, whereas two showed faint bands. DNA sequencing identified 10 different POLH mutations. There were two splicing, one nonsense, five frameshift (3 deletion and 2 insertion), and two missense mutations. Nine of these mutations involved the catalytic domain. Although affected siblings had similar clinical features, the relation between the clinical features and the mutations was not clear. POLH mRNA levels were normal or reduced by 50% in three cell strains with undetectable levels of pol eta protein, indicating that nonsense-mediated message decay was limited. We found a wide spectrum of mutations in the POLH gene among XP-V patients in different countries, suggesting that many of these mutations arose independently.     

Supervision and Contributing to the Analytic Culture

Three dialectical tensions in psychoanalysis are discussed: between scientific and artistic aspects, between development through theoretical writing and individual therapists’ discourses, and between influencing and being influenced by the wider culture. Based on these dialectical tensions, I describe as artwork the supervisee's clinical work that becomes reconstructed in supervision through the supervisee's narrative and parallel processes. From this perspective, the patient and the therapist become the artist and the medium for each other, and the supervisor becomes an art critic who evaluates and maintains a direct dialogue with the artwork. Thus, the supervisor assesses not only the subjective and intersubjective aspects of the supervisee's clinical work, but also its cultural aspect by formulating the cultural influences on this work. More importantly, the supervisor evaluates the potential contribution of the original features of the supervisee's clinical work to the analytic culture and, indirectly, to the wider culture. Notwithstanding internal and external restrictive forces, formulating this potentiality is likely to inspire the supervisee's attempts to influence the analytic discourse from different professional platforms. A supervisee, who feels capable of shaping, albeit slightly, the analytic discourse, is likely to sense agency, autonomy, and creativity, and enliven the therapeutic interactions and the analytic culture.     

Determinants of Coverage Decisions in Health Insurance Marketplaces: Consumers' Decision‐Making Abilities and the Amount of Information in Their Choice Environment

Objective

To investigate the determinants and quality of coverage decisions among uninsured choosing plans in a hypothetical health insurance marketplace.

Study Setting

Two samples of uninsured individuals: one from an Internet-based sample comprised largely of young, healthy, tech-savvy individuals (n = 276), and the other from low-income, rural Virginians (n = 161).

Study Design

We assessed whether health insurance comprehension, numeracy, choice consistency, and the number of plan choices were associated with participants'' ability to choose a cost-minimizing plan, given their expected health care needs (defined as choosing a plan costing no more than $500 in excess of the total estimated annual costs of the cheapest plan available).

Data Collection

Primary data were collected using an online questionnaire.

Principal Findings

Uninsured who were more numerate showed higher health insurance comprehension; those with more health insurance comprehension made choices of health insurance plans more consistent with their stated preferences; and those who made choices more concordant with their stated preferences were less likely to choose a plan that cost more than $500 in excess of the cheapest plan available.

Conclusions

Increasing health insurance comprehension and designing exchanges to facilitate plan comparison will be critical to ensuring the success of health insurance marketplaces.     

Psychosocial Adaptation to Disability Within the Context of Positive Psychology: Philosophical Aspects and Historical Roots

Purpose The purpose of this article is to review the conceptual and clinical similarities that exist between the principles of positive psychology and those underlying rehabilitation counseling and psychology, occupational rehabilitation, and those espoused by the field of psychosocial adaptation to chronic illness and disability (CID). Methods Three themes were selected for review. These included the historical contributions of early scholars in the area of psychosocial adaptation to CID that later were indirectly infused into mainstream positive psychology; state and trait constructs that constitute much of the infrastructure of positive psychology and psychosocial adaptation to CID; and, finally, the philosophical congruencies between positive psychology and psychosocial adaptation to CID. Conclusion The existing literature indicates that there is a substantial philosophical and conceptual overlap between the fields of positive psychology and psychosocial adaptation to CID. Since theoreticians and researchers, from both fields, often use differing terminology and definitions to describe similar concepts, as well as seek similar research goals, it would behoove both fields to seek a closer partnership in order to establish a meaningful dialogue that focuses on human strengths and virtues in the lives of people with CID.     

Disease-Related Mortality within the First Year after Subtotal Esophagectomy for Cancer

Background

Esophageal carcinoma has poor prognosis. Surgery is still considered to be the mainstay of treatment. The mortality rate within the first year after surgery is unknown, but identifying risk factors for early mortality would increase our ability to predict the outcome of these patients and might improve patient selection.

Methods

All patients who had undergone subtotal esophagectomy for cancer between 2003 and 2008 were included in this retrospective series. Patients with less than 12 months follow-up, perioperative mortality, and death from unrelated causes were excluded. Patients were divided into two groups. Group A included all oncological mortality cases within 12 months of surgery. Group B included all patients who survived longer than 12 months following surgery.

Results

Of 81 patients who met the inclusion criteria, group A included 18 patients and group B included 63 (median survival 10 and 25 months, respectively). A higher proportion of patients were operated for pN1 disease in group A (72% versus 33%, p = 0.0004). R₀ esophagectomy rate was lower in group A (39% versus 76%, p = 0.03). Metastatic lymph node ratio (LNR) was higher in group A (mean: 46% versus 10%, p = 0.0003). Multivariate analysis identified LNR as an independent risk factor for first-year oncological mortality [odds ratio (OR) = 1.04, p = 0.0001; 95% confidence interval (CI): 1.02–1.06]. No differences were found in preoperative variables including age, gender, tumor histology, type of operation, and administration of or response to neoadjuvant therapy. Response to neoadjuvant therapy was associated with R₀ resection.

Conclusions

pN1 disease, resection margin involvement, and high LNR were found to be risk factors for first-year oncological mortality after esophagectomy for cancer.     

Different coping strategies influence the development of PTSD among first-time mothers

Objective: To evaluate the different coping strategies for post-traumatic stress disorder (PTSD), described in the non-obstetric trauma literature, with respect to first time postpartum women.

Study design: This was a prospective cohort study conducted between 2011 and 2013. Eligible women had a singleton pregnancy and delivered a healthy newborn at term. Five sets of relevant questionnaires were sent to the participants six weeks postpartum. Posttraumatic stress disorder was defined as per DSM-V criteria.

Results: One hundred and eighty eight completed questionnaires were considered for the final analysis. Two women (1.1%) had PTSD and nine women (4.8%) had partial PTSD. Coping by self-blame and/or rumination together with perception of resource loss emerged as independent variables that were significantly associated with post-traumatic symptomatology (PTS) severity. Objective birth factors such as participation in birth classes or the different modes of delivery seem to have no significant impact on postpartum PTS in our study.

Conclusions: Cognitive coping styles such as self-blame and rumination, as well as perception of resource loss, were all related to postpartum PTS. Redirecting resources to address postpartum negative coping mechanisms may reduce the overall incidence of full and partial postpartum PTSD.     

Brain injuries caused by spherical bolts

OBJECT: Metallic particles contained in antihuman bombs increase the number of fatalities. The ballistics of these particles depends on the explosive that is used, the distance from the explosion, the shape of the particle projected, and the biomechanics of the injured tissue. The authors present their experience with penetrating spherical bolt injuries to the brain. METHODS: The authors retrospectively reviewed clinical and radiological data obtained in eight patients with penetrating spherical bolt injuries to the cranium: four had Glasgow Coma Scale (GCS) scores less than 8 (three died, one from an unrelated injury) and four had a GCS score of 15 (all survived). Two of the latter patients suffered unique anatomical injuries attributed to the distinctive ballistics of spherical bolts: in one patient the bolt penetrated the cavernous sinus causing minimal cranial nerve injury, and in the other patient the bolt lodged in the fourth ventricle causing acute hydrocephalus without other neurological deficits. CONCLUSIONS: Penetrating spherical bolts to the brain may be lethal. Nevertheless, they have unique ballistics that cause highly delineated anatomical damage and minor neurological deficits.