Segmental storiform collagenomas: Expanding the spectrum of PTEN hamartoma tumor syndrome in children

A 4‐year‐old girl with autism spectrum disorder and congenital heart disease presented to dermatology clinic for evaluation of skin growths present since infancy. Physical examination was significant for macrocephaly and agminated skin‐colored to pink papulonodules in a segmental distribution on the right lower back and buttocks, biopsy of which showed storiform collagenomas (sclerotic fibromas). Genetic testing revealed a pathogenic missense mutation in the PTEN gene, and a diagnosis of PTEN hamartoma tumor syndrome was made. The segmental nature of her storiform collagenomas is unique, to our knowledge, and may be explained by a postzygotic second‐hit PTEN mutation, contributing to the growing spectrum of clinical findings associated with PTEN hamartoma tumor syndrome.     

An Adolescent Boy with Urticaria to Water: Review of Current Treatments for Aquagenic Urticaria

Abstract: We report the case of an adolescent boy with aquagenic urticaria unresponsive to oral antihistamine therapy. We successfully treated his condition by topical application of a petrolatum‐containing cream as a protective coating. To our knowledge, this is the first report showing the use of topical therapy alone to treat aquagenic urticaria in a child. Based on the effectiveness, safety profile, and ease of use, clinicians may wish to consider this regimen as a first‐line therapy.     

Control of mammalian glycogen synthase by PAS kinase

The regulation of glycogen metabolism is critical for the maintenance of glucose and energy homeostasis in mammals. Glycogen synthase, the enzyme responsible for glycogen production, is regulated by multisite phosphorylation in yeast and mammals. We have previously identified PAS kinase as a physiological regulator of glycogen synthase in Saccharomyces cerevisiae. We provide evidence here that PAS kinase is an important regulator of mammalian glycogen synthase. Glycogen synthase is efficiently phosphorylated by PAS kinase in vitro at Ser-640, a known regulatory phosphosite. Efficient phosphorylation requires a region of PAS kinase outside the catalytic domain. This region appears to mediate a direct interaction between glycogen synthase and PAS kinase, thereby targeting kinase activity to this substrate specifically. This interaction is regulated by the PAS kinase PAS domain, raising the possibility that this interaction (and phosphorylation event) is modulated by the cellular metabolic state. This mode of regulation provides a mechanism for metabolic status to impinge directly on the cellular decision of whether to store or use available energy.     

Eruptive lentigines confined to psoriatic plaques following biologic therapy

Clinical Rheumatology -     

Development of a Patient Decision Aid for Syncope in the Emergency Department: the SynDA Tool

Objectives

The objective was to develop a patient decision aid (DA) to promote shared decision making (SDM) for stable, alert patients who present to the emergency department (ED) with syncope.

Methods

Using input from patients, clinicians, and experts in the field of syncope, health care design, and SDM, we created a prototype of a paper‐based DA to engage patients in the disposition decision (admission vs. discharge) after an unremarkable ED evaluation for syncope. In phase 1, we conducted one‐on‐one semistructured exploratory interviews with 10 emergency physicians and 10 ED syncope patients. In phase 2, we conducted one‐on‐one directed interviews with 15 emergency care clinicians, five cardiologists, and 12 ED syncope patients to get detailed feedback on DA content and design. We iteratively modified the aid using feedback from each interviewee until clarity and usability had been optimized.

Results

The 11 × 17‐inch, paper‐based DA, titled SynDA, includes four sections: 1) explanation of syncope, 2) explanation of future risks, 3) personalized 30‐day risk estimate, and 4) disposition options. The personalized risk estimate is calculated using a recently published syncope risk‐stratification tool. This risk estimate is stated in natural frequency and graphically displayed using a 100‐person color‐coded pictogram. Patient‐oriented questions are included to stimulate dialogue between patient and clinician. At the end of the development process, patient and physician participants expressed satisfaction with the clarity and usability of the DA.

Conclusions

We iteratively developed an evidence‐based DA to facilitate SDM for alert syncope patients after an unremarkable ED evaluation. Further testing is required to determine its effects on patient care. This DA has the potential to improve care for syncope patients and promote patient‐centered care in emergency medicine.