Primary Care Commons^™

Prevalence Of Infectious Diseases Among 6078 Individuals With Down Syndrome In The United States, Veronica Fitzpatrick, Anne Rivelli, Sagar Chaudhari, Laura Chicoine, Gengjie Jia, Andrey Rzhetsky, Brian Chicoine

Journal of Patient-Centered Research and Reviews

A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions among individuals with DS versus those without DS. In this follow-up retrospective analysis, we explored these differences in greater detail by calculating prevalence of 52 infectious diseases, across 28 years of data among 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large Midwestern health system. We found that the DS cohort had higher prevalence of pneumonias (including aspiration, viral, bacterial, pneumococcal, and unspecified/atypical); otitis externa; …

Integrating Patient-Reported Outcomes Into Clinical Genetic Testing For Familial Hypercholesterolemia, Rachele M. Hendricks-Sturrup, Robert Block, Christine Y. Lu

Journal of Patient-Centered Research and Reviews

Patient-reported outcomes (PROs) and PRO measures (PROMs) are often used to help clinicians and researchers understand patients’ personal concerns, feelings, experiences, and perspectives following the implementation of an intervention. Notably, PROs and PROMs can inform health systems, health policy, and payers on the utility of clinical genetic testing based on each patient’s personal values, perspectives, and potential health behaviors subsequent to testing. In this topic synopsis, we discuss the underexplored role of and implications for PROs and PROMs following genetic testing for familial hypercholesterolemia (FH), an autosomal dominant genetic disorder of cholesterol metabolism that can lead to highly premature fatal …

Challenges Of Pediatric Disease In Adulthood, Dennis J. Baumgardner, Brian Chicoine

Journal of Patient-Centered Research and Reviews

Some chronic diseases — such as the rare bone disease X-linked hypophosphatemia, the impetus for a study reported within Volume 7, Issue 2 of the Journal of Patient-Centered Research and Reviews — are diagnosed in childhood but become more symptomatic in adulthood. In this editorial, the challenges, pitfalls, and opportunities regarding the care of adults with childhood-onset chronic diseases are examined using Down syndrome, cystic fibrosis, congenital heart disease, and Hirschsprung disease as examples.

Giving Credence To The Experience Of X-Linked Hypophosphatemia In Adulthood: An Interprofessional Mixed-Methods Study, Melissa Hughes, Carolyn Macica, Catherine Meriano, Maya Doyle

Journal of Patient-Centered Research and Reviews

Purpose: X-linked hypophosphatemia (XLH) is a rare X-linked dominant metabolic bone disease, often diagnosed in childhood but causing increasing physical debilitation and pain in adulthood. Physical comorbidities of XLH in adulthood include pervasive and early-onset degenerative arthritis, mineralizing enthesophytes and osteophytes, osteomalacia and pseudofracture, dental abscesses, and hearing loss.

Methods: This mixed-methods analysis included physical findings, diagnostic imaging, occupational and physical therapy assessments, and semi-structured interviews by social work to understand the functional outcomes and lived experience of XLH in adulthood, through connections between qualitative data obtained by social work and occupational therapy with the quantitative findings from other disciplines. …

Cryptococcal Antigen Testing In An Integrated Medical System: Eastern Wisconsin, Marianne Klumph, Brian Hoeynck, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

Cryptococcosis is a serious environmentally acquired endemic fungal infection commonly associated with immunocompromised hosts. Little is known regarding frequency or distribution in Wisconsin. We explored the geodemographic and clinical features of patients tested with cryptococcal antigen tests (CrAg) — previously shown to be >90% sensitive and >90% specific — within a large health care system located in eastern Wisconsin. To examine this, we retrospectively analyzed 1465 CrAg tests on 1211 unique patients (female: 50.2%; white race: 73.9%; mean age: 53.7 ± 16.5 years). At least one CrAg result was positive in 23 of 1211 patients (1.9%). From these, 21 of …

Lavender Aromatherapy: Ready For Prime-Time Office Use?, Dennis J. Baumgardner

Journal of Patient-Centered Research and Reviews

The editor-in-chief of Journal of Patient-Centered Research and Reviews comments on the perioperative use of lavender aromatherapy and its potential to relieve pain and anxiety during minor primary care office procedures.

Mindfulness-Based Stress Reduction And Transcendental Meditation: Current State Of Research, Adam Holt

Journal of Patient-Centered Research and Reviews

This article summarizes the current state of meditation research, specifically focusing on mindfulness-based stress reduction and transcendental meditation. Despite significant methodological problems with the studies reported to date on the subject, there is consistent evidence that meditation can produce changes in the nervous system and physiology of the meditator, and can help with various psychological markers of well-being. Regarding improvement in specific clinical diseases, research is generally mixed and preliminary. Strong recommendations cannot be made based on current evidence, and further studies are needed. In general, there is a stronger body of evidence supporting mindfulness-based stress reduction than for transcendental …