Genetic services have historically been time and labor intensive. Little information is known about the proportion of time genetic counselors (GCs) spend face‐to‐face with patients in comparison to the time spent on patient‐related activities (PRA). We aimed to perform a real‐time workflow study of GCs representing multiple clinics and specialties. We developed an electronic collection tool formatted in 15‐min increments for real‐time documentation of how the GC spent his/her time throughout the workday for one full week, based on a defined task list. Participants were Michigan GCs recruited via email solicitation. Sixteen of an estimated 70 patient‐facing GCs (23%) representing prenatal, cancer, adult, and pediatric genetics took part by completing a demographic survey and the workflow study. The GCs reported spending approximately 20% of their time face‐to‐face with patients, 64% on PRA including case preparation, follow‐up, and administrative tasks, and 16% on tasks unrelated to direct patient care. They saw a mean of 10 patients/week with a mean session length of 47 min. Approximately 3 hr of PRA were performed for the 0.78 hr (47 min) of face‐to‐face time with a patient. The most time‐consuming task in the PRA category was letter writing. Identifying strategies to reduce the amount of time spent on PRA could increase the amount of available time GCs have to spend on providing face‐to‐face services and subsequently, the number of patients seen. Such efforts are critical to help meet the growing demand for genetic counseling services.

Peptides derived from the proopiomelanocortin (POMC) precursor are critical for the normal regulation of many physiological parameters, and POMC deficiency results in severe obesity and metabolic dysfunction. Conversely, augmentation of central nervous system melanocortin function is a promising therapeutic avenue for obesity and diabetes but is confounded by detrimental cardiovascular effects including hypertension. Because the hypothalamic population of POMC-expressing neurons is neurochemically and neuroanatomically heterogeneous, there is interest in the possible dissociation of functionally distinct POMC neuron subpopulations. We used a Cre recombinase-dependent and hypothalamus-specific reactivatable PomcNEO allele to restrict Pomc expression to hypothalamic neurons expressing leptin receptor (Lepr) in mice. In contrast to mice with total hypothalamic Pomc deficiency, which are severely obese, mice with Lepr-restricted Pomc expression displayed fully normal body weight, food consumption, glucose homeostasis, and locomotor activity. Thus, Lepr+ POMC neurons, which constitute approximately two-thirds of the total POMC neuron population, are sufficient for normal regulation of these parameters. This functional dissociation approach represents a promising avenue for isolating therapeutically relevant POMC neuron subpopulations.

The results from an experimental and computational study on the effects of specimen size and shape on split Hopkinson pressure bar (SHPB) testing are presented. The effects of the L/D ratio (length L divided by diameter D) along with specimen shape (cylindrical versus square prismatic) were investigated. Even though specimens having a circular cylindrical cross-section are traditionally used in SHPB testing, a square cross-section specimen has advantages associated with in situ imaging of the specimen side surfaces during stress wave propagation. The results presented here show a strong correlation in specimen response between the two types of specimens. Different ranges of L/D ratios are recommended for obtaining stiffness and strength data at near constant strain rates.

Mercer AJ, Stuart RC, Attard CA, Otero-Corchon V, Nillni EA, Low MJ. Temporal changes in nutritional state affect hypothalamic POMC peptide levels independently of leptin in adult male mice. Am J Physiol Endocrinol Metab 306: E904 -E915, 2014. First published February 11, 2014 doi:10.1152/ajpendo.00540.2013.-Hypothalamic proopiomelanocortin (POMC) neurons constitute a critical anorexigenic node in the central nervous system (CNS) for maintaining energy balance. These neurons directly affect energy expenditure and feeding behavior by releasing bioactive neuropeptides but are also subject to signals directly related to nutritional state such as the adipokine leptin. To further investigate the interaction of diet and leptin on hypothalamic POMC peptide levels, we exposed 8-to 10-wk-old male POMC-Discosoma red fluorescent protein (DsRed) transgenic reporter mice to either 24 -48 h (acute) or 2 wk (chronic) food restriction, high-fat diet (HFD), or leptin treatment. Using semiquantitative immunofluorescence and radioimmunoassays, we discovered that acute fasting and chronic food restriction decreased the levels of adrenocorticotropic hormone (ACTH), ␣-melanocytestimulating hormone (␣-MSH), and ␤-endorphin in the hypothalamus, together with decreased DsRed fluorescence, compared with control ad libitum-fed mice. Furthermore, acute but not chronic HFD or leptin administration selectively increased ␣-MSH levels in POMC fibers and increased DsRed fluorescence in POMC cell bodies. HFD and leptin treatments comparably increased circulating leptin levels at both time points, suggesting that transcription of Pomc and synthesis of POMC peptide products are not modified in direct relation to the concentration of plasma leptin. Our findings indicate that negative energy balance persistently downregulated POMC peptide levels, and this phenomenon may be partially explained by decreased leptin levels, since these changes were blocked in fasted mice treated with leptin. In contrast, sustained elevation of plasma leptin by HFD or hormone supplementation did not significantly alter POMC peptide levels, indicating that enhanced leptin signaling does not chronically increase Pomc transcription and peptide synthesis. arcuate nucleus; energy homeostasis; hypothalamus; metabolism; neural networks; obesity; proopiomelanocortin neurons; leptin; proopiomelanocortin NEURONS IN THE ARCUATE NUCLEUS of the hypothalamus (ARC) containing the proopiomelanocortin (POMC) gene are central to the maintenance of energy homeostasis. Pomc mRNA in these neurons encodes a 241-amino acid prohormone that is enzymatically processed into multiple bioactive peptides. Proconvertase 1/3 (PC1/3) cleaves POMC into adrenocorticotropic hormone (ACTH) and ␤-lipotrophin, which are further processed by PC2 and carboxypeptidase E (CPE) into ␣-melanocyte-stimulating hormone (␣-MSH) and ␤-endorphin (46, 66). In the central nervous system (CNS), ACTH is relatively inactive, but ␣-MSH acts on melanocortin 4 receptor (MC4R) to potently downregulate appetitive behavior and inc...