Effects of adding a new PCMH block rotation and resident team to existing longitudinal training within a certified PCMH: primary care residents’ attitudes, knowledge, and experience

Background: Although the patient-centered medical home (PCMH) model is considered important for the future of primary care in the USA, it remains unclear how best to prepare trainees for PCMH practice and leadership. Following a baseline study, the authors added a new required PCMH block rotation and resident team to an existing longitudinal PCMH immersion and didactic curriculum within a Level 3-certified PCMH, aiming for “enhanced situated learning”. All 39 residents enrolled in a USA family medicine residency program during the first year of curricular implementation completed this new 4-week rotation. This study examines the effects of this rotation after 1 year. Methods: A total of 39 intervention and 13 comparison residents were eligible participants. This multimethod study included: 1) individual interviews of postgraduate year (PGY) 3 intervention vs PGY3 comparison residents, assessing residents’ PCMH attitudes, knowledge, and clinical experience, and 2) routine rotation evaluations. Interviews were audiorecorded, transcribed, and analyzed using immersion/crystallization. Rotation evaluations were analyzed using descriptive statistics and qualitative analysis of free text responses. Results: Authors analyzed 23 interviews (88%) and 26 rotation evaluations (67%). Intervention PGY3s’ interviews revealed more nuanced understanding of PCMH concepts and more experience with system-level PCMH tasks than those of comparison PGY3s. More intervention PGY3s rated themselves “extremely prepared” to implement PCMH than comparison PGY3s; however, most self-rated “somewhat prepared”. Their reflections demonstrated deeper understanding of PCMH implementation and challenges than comparison PGY3s but inadequate experience to directly see the results of successful solutions. Rotation evaluations from PGY1, PGY2, and PGY3s revealed strengths and several areas for improvement. Conclusion: Adding one 4-week block rotation to existing longitudinal training appears to improve residents’ PCMH knowledge, skills, and experience from “basic” to “intermediate”. However, this training level appears inadequate for PCMH leadership or for teaching junior learners. Further study is needed to determine the optimum training for different settings

A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function

Distal cell-type-specific regulatory elements may be located at very large distances from the genes that they control and are often hidden within intergenic regions or in introns of other genes. The development of methods that enable mapping of regions of open chromatin genome wide has greatly advanced the identification and characterisation of these elements

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an integrated analysis of 617 patient-parent (trio) exomes, 152,898 human brain and mouse meningeal single-cell RNA sequencing transcriptomes and natural language processing data of patient medical records. We found that damaging de novo variants (DNVs) were highly enriched in patients with ACs compared with healthy individuals (P = 1.57 × 10-33). Seven genes harbored an exome-wide significant DNV burden. AC-associated genes were enriched for chromatin modifiers and converged in midgestational transcription networks essential for neural and meningeal development. Unsupervised clustering of patient phenotypes identified four AC subtypes and clinical severity correlated with the presence of a damaging DNV. These data provide insights into the coordinated regulation of brain and meningeal development and implicate epigenomic dysregulation due to DNVs in AC pathogenesis. Our results provide a preliminary indication that, in the appropriate clinical context, ACs may be considered radiographic harbingers of neurodevelopmental pathology warranting genetic testing and neurobehavioral follow-up. These data highlight the utility of a systems-level, multiomics approach to elucidate sporadic structural brain disease

Eliminating lead exposure from drinking water—A global call to action

Each year, approximately 900,000 people die from exposure to lead [1]. But the full impacts of lead exposure are far more insidious. Lead is a potent neurotoxin that impairs brain function and irreversibly harms children’s cognitive development. Any exposure to lead can be damaging. Recent studies estimate that 800 million children globally (approximately 1 in 3) have blood lead concentrations above 5 micrograms per deciliter and that lead exposure may be responsible for 30% of all intellectual disabilities of unknown origin [2, 3]. Lead exposure increases disease burden, estimated at over 21 million disability-adjusted life years (DALYs) yearly, primarily due to cardiovascular diseases and mental disorders. This disease burden attributed to lead has increased globally since 1990, because of population growth and aging [4]. Additional research has shown evidence of a direct dose-response relationship between children’s blood lead levels and reductions in IQ which decreases lifetime earnings [5, 6]. This makes lead a public health threat and a key environmental risk factor that exacerbates long-term inequalities affecting especially marginalized groups. Important sources of exposure include batteries, paint, food containers, drinking water systems, and leaded gasoline (now banned in all countries)

Recreational and occupational field exposure to freshwater cyanobacteria – a review of anecdotal and case reports, epidemiological studies and the challenges for epidemiologic assessment

Cyanobacteria are common inhabitants of freshwater lakes and reservoirs throughout the world. Under favourable conditions, certain cyanobacteria can dominate the phytoplankton within a waterbody and form nuisance blooms. Case reports and anecdotal references dating from 1949 describe a range of illnesses associated with recreational exposure to cyanobacteria: hay fever-like symptoms, pruritic skin rashes and gastro-intestinal symptoms are most frequently reported. Some papers give convincing descriptions of allergic reactions while others describe more serious acute illnesses, with symptoms such as severe headache, pneumonia, fever, myalgia, vertigo and blistering in the mouth. A coroner in the United States found that a teenage boy died as a result of accidentally ingesting a neurotoxic cyanotoxin from a golf course pond. This death is the first recorded human fatality attributed to recreational exposure to cyanobacteria, although uncertainties surround the forensic identification of the suspected cyanotoxin in this case. We systematically reviewed the literature on recreational exposure to freshwater cyanobacteria. Epidemiological data are limited, with six studies conducted since 1990. Statistically significant increases in symptoms were reported in individuals exposed to cyanobacteria compared to unexposed counterparts in two Australian cohort studies, though minor morbidity appeared to be the main finding. The four other small studies (three from the UK, one Australian) did not report any significant association. However, the potential for serious injury or death remains, as freshwater cyanobacteria under bloom conditions are capable of producing potent toxins that cause specific and severe dysfunction to hepatic or central nervous systems. The exposure route for these toxins is oral, from ingestion of recreational water, and possibly by inhalation. A range of freshwater microbial agents may cause acute conditions that present with features that resemble illnesses attributed to contact with cyanobacteria and, conversely, acute illness resulting from exposure to cyanobacteria or cyanotoxins in recreational waters could be misdiagnosed. Accurately assessing exposure to cyanobacteria in recreational waters is difficult and unreliable at present, as specific biomarkers are unavailable. However, diagnosis of cyanobacteria-related illness should be considered for individuals presenting with acute illness following freshwater contact if a description is given of a waterbody visibly affected by planktonic mass development