Search

Abstract Background PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overlapping phenotypes (including overgrowth and vascular malformations) that vary significantly in their severity; every case is unique, leading to different, complex experiences. Here, we aim to describe the PROS experience from the patients’ and caregivers’ points of view, from onset to diagnosis to treatment and support. Results The PROS patient journey was developed using a literature review, an ethnography study, health care professional (HCP) research, and social listening. It was then validated with patients, caregivers, and patient advocates. Physician research included 94 PROS centers and other vascular anomaly centers throughout the United States and Europe. Ethnographic research included 24 patients, caregivers, and/or advocates; selected data from 223 patients were reviewed. Key priority areas of need were identified, along with barriers to and potential enablers of quality care. Visual mapping of the PROS patient and family journey was developed to identify key personal health and system issues, and opportunities for improvements throughout patients’ lifespans. Maps were also developed for 3 specific conditions: Klippel–Trénaunay syndrome (K–T); congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal anomalies (CLOVES) syndrome; and megalencephaly-capillary malformation syndrome (M-CM). Overall, most patients with PROS conditions and their families struggle with a long path to diagnosis, access to genetic testing, and finding qualified specialists. Following diagnosis, patients and families are frequently challenged with major medical events, comorbidities, unpredictability, frequent hospitalization, impact on school and work, the need for multidisciplinary care, unwanted attention, adverse impact on mental and emotional health, and financial pressures. Lack of effective pain management emerged as a substantial issue. Challenges and barriers to quality care shift throughout patients’ lifespans; transition from pediatric to adult care can be especially difficult. Conclusions This patient journey in PROS was created in collaboration with patients, caregivers, and advocates as key partners. This novel methodology, which could be applied elsewhere, can more accurately identify areas of unmet need, barriers to care, education topics, and assist HCPs to understand the patient and family perspective.

PURPOSEAlthough new therapeutic options continue to improve disease-related outcomes in advanced breast cancer (ABC), enhanced focus is needed to improve quality of life for patients currently living with ABC.METHODSIn November 2019, a multidisciplinary workshop to explore patient perceptions of their information and support needs was held at the ABC Global Alliance Annual Meeting in Lisbon, Portugal. Ninety-two attendees from 27 countries participated in the workshop.RESULTSSeveral key unmet needs were identified and discussed in the workshop, including the following: (1) Significant patient knowledge gaps exist related to the diagnosis and management of ABC, and the availability of patient-focused information to support these gaps in knowledge remains limited. (2) The development of meaningful relationships between patients and health care professionals, and the role of patients in decision making, is often overlooked for patients with ABC. (3) Multidisciplinary care approaches are crucial for patients with ABC; however, these often lack effective coordination. (4) Access to clinical trials for ABC also remains limited. (5) Caregivers, friends, and family members do not receive sufficient guidance to support patients with ABC and manage their own well-being.CONCLUSIONThe variety of unmet needs explored in the workshop demonstrates that patients with ABC still face considerable challenges related to quality of care and support, which will not be resolved until tangible action is taken. Issues highlighted in the workshop should be prioritized by working groups to shape the development of community-based solutions. There is a need for the global community to act proactively to maximize awareness of these ongoing unmet needs and existing resources, while socializing and building new initiatives and resources that will help to close these gaps for patients.

Colla corii asini (Ejiao) was distinguished from its fakes by using a portable device of near-infrared spectroscopy (NIRS). The spectroscopic information was then characteristically extracted for clustering analysis. Chemometrics tools were applied to interpret the NIRS datasets and to further identify the potential information for the quality control of Ejiao. In this study, forty-three Ejiao samples were collected from 20 manufacturers in China. Three chemometrics methods including hierarchical cluster analysis (HCA), principle component analysis (PCA) and mahalanobis distance (MD) were utilized to simultaneously confirm the analytical results, and all showed efficacy for the quality control of Ejiao by NIRS. In conclusion, the combination of NIRS and chemometrics is effective for the authentication of Ejiao of various quality. [ABSTRACT FROM AUTHOR]