Increasingly, 18-24-year-old women from hereditary breast/ovarian cancer (HBOC) families are pursuing genetic testing, despite their low absolute risks of breast and ovarian cancer and the fact that evidence-based management options used with older high-risk women are not generally available. Difficult clinical decisions in older carriers take on substantially more complexity and value-laden import in very young carriers. As a result, many of the latter receive highly personal and emotionally charged cancer risk information in a life context where management strategies are not well defined. We analyzed 32 in-depth interviews with BRCA1/2 mutation-positive women aged 18-24 using techniques of grounded theory and interpretive description. Participants described feeling vulnerable to a cancer diagnosis but in a quandary regarding their care because evidence-based approaches to management have not been developed and clinical trials have not been undertaken. Our participants demonstrated a wide range of genetic and health literacy. Inconsistent recommendations, surveillance fatigue, and the unpredictability of their having health insurance coverage for surgical risk-reducing procedures led several to contemplate risk-reducing mastectomy before age 25. Parents remained a primary source of emotional and financial support, slowing age-appropriate independence and complicating patient privacy. Our findings suggest that, for 18-24-year-olds, readiness to autonomously elect genetic testing, to fully understand and act on genetic information, and to confidently make decisions with life-long implications are all evolving processes. We comment on the tensions between informed consent, privacy, and the unique developmental needs of BRCA1/2 mutation-positive women just emerging into their adult years.

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years. The molecular basis is due to mutations in CTNS, the gene encoding for the lysosomal cystine-proton cotransporter, cystinosin. During adolescence and adulthood, extrarenal manifestations of cystinosis develop and require multidisciplinary care. Despite substantial improvement in prognosis due to cystine-depleting therapy with cysteamine, no cure of the disease is currently available. Kidney Disease: Improving Global Outcomes (KDIGO) convened a Controversies Conference on cystinosis to review the state-of-the-art knowledge and to address areas of controversies in pathophysiology, diagnostics, monitoring, and treatment in different age groups. More importantly, promising areas of investigation that may lead to optimal outcomes for patients afflicted with this lifelong, systemic disease were discussed with a research agenda proposed for the future.

Adverse drug reactions include drug hypersensitivity reactions (DHRs), which can be immunologically mediated (allergy) or non-immunologically mediated. The high number of DHRs that are unconfirmed and often self-reported is a frequent problem in daily clinical practice, with considerable impact on future prescription choices and patient health. It is important to distinguish between hypersensitivity and non-hypersensitivity reactions by adopting a structured diagnostic approach to confirm or discard the suspected drug, not only to avoid life-threatening reactions, but also to reduce the frequent over-diagnosis of DHRs. Primary care physicians are often the first point of contact for the sufferer of a reaction, as such they have a key role in deciding whether to discard the diagnosis or send the patient for further investigation. In this review, we highlight the importance of diagnosing DHRs, analysing in detail the role of primary care physicians. We describe the common patterns of DHRs and signs of its progression, as well as the indications and contraindications for referring the patient to an allergist. The diagnostic process is described and the possible tests are discussed, which often depend on the drug involved and the type of DHR suspected. We also describe recommendations regarding the avoidance of medication suspected to have caused the reaction and the use of alternatives.

Journal of Patient-Centered Research and Reviews (JPCRR) is an open access, peer-reviewed medical journal focused on disseminating scholarly works devoted to improving patient-centered care practices, health outcomes, and the patient experience.

Background Rare diseases pose transitioning challenges owing to limited provider expertise and changing healthcare systems. The timeframe and developmental changes of emerging adulthood overlap with the transition of patients with cystinosis from pediatric to adult-oriented healthcare. Methods This study utilized techniques of qualitative grounded theory to explore the experiences of adults aged 18-47 with cystinosis, and their parents, with a focus on the transition to adulthood and adult-oriented care. Forty-six individuals from 21 families were recruited online and at cystinosis conferences to participate in focus groups and/or individual interviews. The constant comparative method was used to conduct both line-by-line and focused coding of verbatim transcripts. Results The following elements were reported to be critical to the transition to adulthood and adult-oriented care: gaining skills and responsibility for disease management, progressing toward autonomy while remaining connected to caregivers, and having strong communication with and between providers. Conclusions Data analysis identified behaviors and relationships that support and/or threaten autonomy and treatment adherence. Participants described institutional, relational, and practical barriers to transition. Suggestions for improving transitioning include: identifying patient/family strengths and improving pediatric-adult provider partnerships and communication. Further research is needed into the experience of patients before and after transition to adult-oriented care.