Renal Neoplasia in Tuberous Sclerosis: A Study of 41 Patients

ObjectiveTo study the clinical features and identify unique renal neoplasia subtypes and their prognostic implications in individuals with tuberous sclerosis complex (TSC).Patients and MethodsThe Mayo Clinic nephrectomy registry included 37 patients with TSC diagnosed between 1970 and 2018. Four additional patients were identified from the pathology consultation and autopsy files. All available renal tumors were further characterized using immunohistochemistry and fluorescence in situ hybridization. Clinicopathologic features and follow-up were obtained from the medical record. The American Association for Cancer Research Project GENIE registry was accessed using cBioPortal for molecular profiling of angiomyolipoma (AML).ResultsA total of 276 renal tumors from 41 patients were analyzed. Renal tumors were classified into 9 distinct morphological subtypes, with AML predominating (238 [86%]). Interestingly, all these tumors acted in a benign fashion except one renal cell carcinoma with clear cells and fibromyomatous stroma and one epithelioid AML that metastasized. Molecular profiling studies revealed that epithelioid AMLs were enriched for alterations of TP53, RB1, and ATRX. Eight patients died of direct complications of TSC, including 3 of end-stage renal disease. To date, none have died of a renal epithelial neoplasm.ConclusionThe identification of unique renal neoplasia subtypes may provide important clues to establish a diagnosis of TSC, and in the somatic setting, this finding has important implications for accurate prognostication. These tumors tend to be indolent, and only 2 of 276 tumors in our study exhibited metastatic behavior. Our results support multidisciplinary management with a focus on preservation of renal function.     

Cerebrovascular risks with rapid blood pressure lowering in the absence of hypertensive emergency

Study objectiveIn the Emergency Department (ED) setting, clinicians commonly treat severely elevated blood pressure (BP) despite the absence of evidence supporting this practice. We sought to determine if this rapid reduction of severely elevated BP in the ED has negative cerebrovascular effects.MethodsThis was a prospective quasi-experimental study occurring in an academic emergency department. The study was inclusive of patients with a systolic BP (SBP) > 180 mm Hg for whom the treating clinicians ordered intensive BP lowering with intravenous or short-acting oral agents. We excluded patients with clinical evidence of hypertensive emergency. We assessed cerebrovascular effects with measurements of middle cerebral artery flow velocities and any clinical neurological deterioration.ResultsThere were 39 patients, predominantly African American (90%) and male (67%) and with a mean age of 50 years. The mean pre-treatment SBP was 210 ± 26 mm Hg. The mean change in SBP was ?38 mm Hg (95% CI ?49 to ?27) mm Hg. The average change in cerebral mean flow velocity was ?5 (95% CI ?7 to ?2) cm/s, representing a ?9% (95% CI ?14% to ?4%) change. Two patients (5.1%, 95% CI 0.52–16.9%) had an adverse neurological event.ConclusionWhile this small cohort did not find an overall substantial change in cerebral blood flow, it demonstrated adverse cerebrovascular effects from rapid BP reduction in the emergency setting.     

Investigating the beneficial experiences of online peer support for those affected by alopecia: an interpretative phenomenological analysis using online interviews

Patients and their family members can find it helpful to share their stories with fellow sufferers. Online groups are particularly useful for those who are shy or self-conscious about how they look. Alopecia UK is a support group for people experiencing hair loss. Their website links to a monitored Facebook group restricted to members. There is not much research into the benefits of online support for skin conditions, so these psychologists from Sheffield in the UK interviewed 12 people who had been helped by the Alopecia UK Facebook group. The usual method for this type of research is “content analysis” in which patient interviews are analysed to identify themes. These researchers used “interpretative phenomenological analysis”. First, they asked participants for a screenshot of a post they had found particularly helpful. Then they asked a set of questions about their experience with the website and with the screenshot. Finally, they analysed the interviews to look for themes expressed both by individuals and by the group. The participants, all women, described how the online forum enabled them to let go of feelings of misery and unattractiveness, to share practical tips about dealing with their appearance, to feel less alone and more normal and to become more accepting of their appearance and more confident socially. A few reported unhelpful comments and inaccurate advice. The study suggests that online peer support can encourage sufferers to adjust to chronic (long-term) conditions by connecting them within a safe and private community. Platforms like this could be used in combination with other therapies.     

Health outcomes and the healthcare and societal cost of optimizing pediatric surgical care in the United States

Background

There is a movement to ensure that pediatric patients are treated in appropriately resourced hospitals through the ACS Children’s Surgery Verification (CSV) program. The objective of this study was to assess the potential difference in care provision, health outcomes and healthcare and societal costs after implementation of the CSV program.