Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

Familial leucine-sensitive hypoglycemia of infancy was described in 1956 as a condition in which symptomatic hypoglycemia was provoked by protein meals or the amino acid, leucine. The purpose of this study was to determine the genetic basis for hypoglycemia in a family diagnosed with leucine-sensitive hypoglycemia in 1960. Recently diagnosed family members showed a dominantly transmitted pattern of diazoxide-responsive hyperinsulinism (HI). However, they did not fit the characteristics of HI caused by glutamate dehydrogenase gene mutations, previously felt to explain leucine-sensitive hypoglycemia. Islet function was examined using acute insulin response (AIR) tests to calcium, leucine, glucose, and tolbutamide as well as oral protein tolerance tests. Five of five affected family members showed an abnormal positive calcium AIR, and two of five showed a positive leucine AIR. Protein-induced hypoglycemia was demonstrated in five of six affected subjects. Mutation analysis of four known HI genes (sulfonylurea receptor 1, Kir6.2, glutamate dehydrogenase, and glucokinase) in family members identified an R1353H missense mutation in exon 33 of SUR1. (86)Rb(+) efflux and electrophysiological studies of R1353H SUR1 coexpressed with wild-type Kir6.2 in COSm6 cells demonstrated partially impaired ATP-dependent potassium channel function. Leucine-sensitive hypoglycemia in this family was found to result from a dominantly expressed SUR1 mutation.     

Case finding and referral model for emergency department elders: a randomized clinical trial

STUDY OBJECTIVE: Elderly emergency department patients have complex medical needs and limited social support. A transitional model of care adapted from hospitals was tested for its effectiveness in the ED in reducing subsequent service use. METHODS: A randomized clinical trial was conducted at 2 urban, academically affiliated hospitals. Participants were 650 community-residing individuals 65 years or older who were discharged home after an ED visit. Main outcomes were service use rates, defined as repeat ED visits, hospitalizations, or nursing home admissions, and health care costs at 30 and 120 days. Intervention consisted of comprehensive geriatric assessment in the ED by an advanced practice nurse and subsequent referral to a community or social agency, primary care provider, and/or geriatric clinic for unmet health, social, and medical needs. Control group participants received usual and customary ED care. RESULTS: The intervention had no effect on overall service use rates at 30 or 120 days. However, the intervention was effective in lowering nursing home admissions at 30 days (0.7% versus 3%; odds ratio 0.21; 95% confidence interval [CI] 0.05 to 0.99) and in increasing patient satisfaction with ED discharge care (3.41 versus 3.03; mean difference 0.37; 95% CI 0.13 to 0.62). The intervention was more effective for high-risk than low-risk elders. CONCLUSION: An ED-based transitional model of care reduced subsequent nursing home admissions but did not decrease overall service use for older ED patients. Further studies are needed to determine the best models of care for this setting and for at-risk patients.     

Developing research priorities for nurses working in the gynaecology setting in Western Australia

Background

Nurses working in clinical settings are instrumental to translating research into practice. The Delphi approach has been used by clinicians worldwide to set research agendas relevant to their clinical work.

Views from the field: Medical student experiences and perceptions of interprofessional learning and collaboration in rural settings

Exploring the perceived environment where students are educated, as well as where they practice, is particularly important for educators and practitioners working in situations of interprofessional rural and remote health. In this study, we explored the perceptions of undergraduate medical students regarding interprofessionalism across their four-year undergraduate program which focuses on rural health. A thematic content analysis of the text-data was conducted on a convenience sample of 47 student responses to essay questions across four cohorts of a four-year undergraduate medical program. The medical program has an explicit social accountability mandate for responsiveness to the needs of a rural population and thus students have multiple opportunities to experience interprofessional education and collaboration in rural contexts. Participants reported (a) blurring and flexibility of roles in a primarily positive manner, (b) participating in unstructured interprofessional learning and collaboration, (c) experiencing the importance of social connections to interprofessional collaboration and learning, and (d) realisations that interprofessional collaboration is a means of overcoming barriers in rural areas. We discuss our findings using the socio-material perspective of complexity theory. These findings may be used to inform undergraduate programs in re-defining, re-creating, developing, and fostering interprofessional learning opportunities for medical students in rural communities as well as to support clinical faculty through ongoing professional development.     

Self-care in Heart Failure Hospital Discharge Instructions—Differences Between Nurse Practitioner and Physician Providers

Patients with heart failure (HF) are at risk for frequent readmission potentially due to self-care deficits. Medical doctors (MDs) and nurse practitioners (NPs) both provide discharge instructions. However, each type of provider may emphasize different elements of care. The aim of this study was to analyze and compare the content of the documentation of 50 discharge instructions of heart failure patients written by NPs and MDs. Compared with MDs, NPs placed greater emphasis on symptom identification, and were more likely to advise and schedule follow-up appointments with primary care and cardiology providers rather than advising an appointment was needed without scheduling one.     

Management of dyspepsia—The role of the ED Observation unit to optimize patient outcomes

Background

Dyspepsia is a common complaint that can confer significant burden on one's quality of life and may also be associated with serious underlying conditions. The objective of this study was to determine if patients admitted to the emergency department observation unit (EDOU) for severe or persistent dyspepsia would have cost effective management in terms of investigations performed, length and cost of hospital stay. The secondary objective was to determine if any patient characteristics could predict a need for admission to the inpatient unit.

Sex after amputation: the relationships between sexual functioning,body image,mood and anxiety in persons with a lower limb amputation

Aim: The study examined the relationships between psychological variables and sexual functioning in persons with lower limb amputations.

Method: Sixty-five participants (n?=?49 males, n?=?16 females) with lower limb amputations completed a battery of self-report questionnaires regarding their current psychological well-being and their current sexual activity. Measures included the anxiety items on the Hospital Anxiety and Depression Scale, the Beck Depression Inventory – Second Edition, Body Image Quality of Life Inventory, Body Exposure Self-Consciousness during Intimate Situations and the Golombok-Rust Inventory of Sexual Satisfaction.

Results: Half of all participants with lower limb amputations were not currently sexually active. Approximately 60% of those who were sexually active scored within the clinical range for overall sexual dysfunction. Overall levels of sexual dysfunction were associated with significantly higher levels of anxiety (r?=?0.40, p?r?=?0.41, p?r?=?0.56, p?Conclusions: Psychological challenges following limb loss are strongly associated with levels of sexual dysfunction. The study highlights the need for psychological and psychosexual assessment and intervention following limb loss to enhance sexual functioning and overall quality of life.

• Implications for Rehabilitation

• Only half of the participants with a lower limb amputation were sexually active. Over 60% of those who were sexually active reported clinical levels of sexual dysfunction. One third of the entire sample scored within the clinical range for depression and for anxiety.

• Depression, anxiety and body image issues were significantly associated with sexual dysfunction in the current sample of individuals with lower limb amputation.

• There is a need for psychosexual assessment following limb loss to ensure that appropriate and timely interventions are made available. Interventions that target the psychological factors related to sexual dysfunction are likely to improve overall quality of life for these individuals