Foundations in physiology: an introductory course using the core concepts.

As one element of an extensive revision to program curriculum, the Integrative Physiology and Health Science Department at a small, private, liberal arts institution developed a novel introductory course for the major, focusing specifically on the "core concepts" of physiology. Intended to provide the initial step in explicit scaffolding for student success and, ultimately, transfer of knowledge across the curriculum, development and assessment of the first offering of the course were completed. In the fall of 2021, IPH 131: Foundations in Physiology was launched.

Supporting people who have eating and drinking difficulties.

Eating and drinking are essential for maintenance of nutrition and hydration, but are also important for pleasure and social interactions. The ability to eat and drink hinges on a complex and coordinated system, resulting in significant potential for things to go wrong.The Royal College of Physicians (RCP) has published updated guidance on how to support people who have eating and drinking difficulties, particularly towards the end of life.

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

Background: Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published.

Objective: This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS.

Multicenter Research Data of Epilepsy Management in Patients With Sturge-Weber Syndrome.

Background: Epilepsy in typical Sturge-Weber syndrome (SWS) is common, and many questions remain regarding the treatment outcomes. We analyzed a large multicenter database with focus on neurological drug treatment in different demographic and SWS characteristic groups.

Methods: A total of 268 patients with brain involvement and a history of seizures were selected from a research data registry generated from a multicenter cross-sectional questionnaire.

Lasers, Birthmarks, and Sturge-Weber Syndrome: A Pilot Survey.

Background And Objectives: There is limited or no data on the experience of patients with Sturge-Weber Syndrome (SWS) and/or their parents who seek out laser treatments for their port-wine birthmark (PWB). Our study aimed to develop a survey to understand patient perspectives on laser therapy and subsequent behaviors while focusing on three elements of the health belief model: perceived susceptibility, perceived benefits, and perceived barriers.

Study Design/materials And Methods: A 31 item survey was developed and sent to 650 members of the Sturge-Weber Foundation.

Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs.

Objective: We aimed to identify the current status and major unmet needs in the management of neurological complications in Sturge-Weber syndrome.

Methods: An expert panel consisting of neurologists convened during the Sturge-Weber Foundation Clinical Care Network conference in September 2018. Literature regarding current treatment strategies for neurological complications was reviewed.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS.

A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.

Background: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications.

Trials and tribulations of the annual review of competence progression - lessons learned from core medical training in London.

The annual review of competence progression (ARCP) was introduced as a way of keeping records and reviewing satisfactory progress through a medical curriculum for doctors in training. It provides public assurance that doctors are trained to a satisfactory standard and are fit for purpose. A routine external review of the core medical training (CMT) ARCPs in London revealed documentation of satisfactory progression of trainees to the next level of training without the evidence to support their completion of the curriculum.

Where did the acute medical trainees go? A review of the career pathways of acute care common stem acute medical trainees in London.

Acute care common stem acute medicine (ACCS AM) training was designed to develop competent multi-skilled acute physicians to manage patients with multimorbidity from 'door to discharge' in an era of increasing acute hospital admissions. Recent surveys by the Royal College of Physicians have suggested that acute medical specialties are proving less attractive to trainees. However, data on the career pathways taken by trainees completing core acute medical training has been lacking.

Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.

Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder.

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research.

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.

Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS).

Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research.

Results: The increasing number of reports dealing with SWS over the last decade reflects progress in the diagnosis and understanding of the neurological involvement.

Sturge-Weber syndrome: soft-tissue and skeletal overgrowth.

Sturge-Weber syndrome (SWS) is characterized by capillary malformation, glaucoma, leptomeningeal vascular anomalies, and variable facial overgrowth. The purpose of this study was to document the prevalence and morbidity of facial hypertrophy in 2 cohorts: group 1, surveyed patients registered in the SWS Foundation, and group 2, patients treated at our Vascular Anomalies Center. Predictive variables included age, sex, region of capillary stain, and ocular or cerebral involvement.

Comorbidity of epilepsy and headache in patients with Sturge-Weber syndrome.

Sturge-Weber syndrome is associated with leptomeningeal angioma, trigeminal port-wine stain, epilepsy, and glaucoma. Clinically, many patients with Sturge-Weber syndrome are observed to have both seizures and headaches, but this has never been described in the literature. A questionnaire was mailed to 190 patients with reported comorbid epilepsy and headache as identified by the Sturge-Weber Foundation.