Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive Errors.

NAA10-related and NAA15-related neurodevelopmental syndrome, otherwise known as Ogden Syndrome, is known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 mutations are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic conditions (cortical visual impairment, myopia, hyperopia, strabismus, nystagmus, and astigmatism) in 67 patients with pathogenic mutations in the NAA10 cohort (54 inherited, 10 de novo; 65 missense, 2 frameshift) and 19 patients with pathogenic mutations in the NAA15 cohort (18 de novo; 8 frameshift, 4 missense, 4 nonsense, and 1 splice site). Patients were interviewed virtually or in-person to collect a comprehensive medical history verified by medical records. These records were then analyzed to calculate the prevalence of these ophthalmic manifestations in each cohort. Analysis revealed a higher prevalence of ophthalmic conditions in our NAA10 cohort compared to existing literature (myopia 25.4% vs. 4.7%; astigmatism 37.3% vs. 13.2%; strabismus 28.4% vs. 3.8%; CVI 22.4% vs. 8.5%, respectively). No statistically significant differences were identified between the NAA10 and NAA15 mutations. Our study includes novel neuroimaging of 13 NAA10 and 5 NAA15 probands, which provides no clear correlation between globe size and severity of comorbid ophthalmic disease. Finally, anecdotal evidence was compiled to underscore the importance of early ophthalmologic evaluations and therapeutic interventions.

Scaffolding the Transition to Residency: A Qualitative Study of Coach and Resident Perspectives.

PURPOSE: This study explores coaching during transition from medical school to residency through the perspectives of residents and faculty coaches participating in a coaching program from residency match through the first year of residency. METHOD: From January to September 2020, 15 faculty coaches in internal medicine, obstetrics and gynecology, emergency medicine, orthopedics, and pathology participated in a synchronous, in-person coaching training course. All 94 postgraduate year 1 residents in these 5 training programs participated. Between November 2021 and March 2022, focus groups were held with interns from all residency programs participating in the program. Interviews were conducted with faculty coaches in February 2022. Faculty and residents discussed their experiences with and perceptions of coaching. De-identified transcripts were coded, and researchers organized these codes into broader categories, generated cross-cutting themes from the concepts described in both cohorts, and proposed a model for the potential of coaching to support the transition to residency. Descriptive themes were constructed and analytic themes developed by identifying concepts that crossed the data sets. RESULTS: Seven focus groups were held with 39 residents (42%). Residents discussed the goals of a coaching program, coach attributes, program factors, resident attributes, and the role of the coach. Coaches focused on productivity of coaching, coaching skills and approach, professional development, and scaffolding the coaching experience. Three analytic themes were created: (1) coaching as creating an explicit curriculum for growth through the transition to residency, (2) factors contributing to successful coaching, and (3) ways in which these factors confront graduate medical education norms. CONCLUSIONS: Learner and faculty perspectives on coaching through the transition to residency reveal the potential for coaching to make an explicit and modifiable curriculum for professional growth and development. Creating structures for coaching in graduate medical education may allow for individualized professional development, improved mindset, self-awareness, and self-directed learning.

Establishing the criterion validity of an adapted dietary screener for Asian Americans amongst Chinese American adults.

OBJECTIVE: To assess the criterion validity of a dietary screener questionnaire adapted for Asian Americans (ADSQ) compared to Automated Self-Administered 24-Hour Dietary Assessment Tool (ASA-24) food diary data amongst Chinese American Adults (CHAs). The ADSQ incorporated example ethnic foods from six Asian American groups. Lessons learned with respect to translating the ADSQ from English into Simplified Chinese were also documented. DESIGN: Agreement between a two-day food diary (one weekend day and one weekday) and the ADSQ was assessed for vegetable, fruit, dairy, added sugar, fiber, calcium, and whole grain intake using paired t-tests to compare means and Spearman correlations to assess agreement between intake of food components. SETTING: Data were collected online and via phone interviews. PARTICIPANTS: Thirty-three CHAs aged 19-62 years (63.6% female). RESULTS: Mean differences were small for fruit, dairy, fiber, calcium, and whole grain intake, but were significantly different for vegetables and added sugar intake. Spearman correlations were < 0.5 and non-significant (p > 0.05) for all components. Both the ASA-24 and the ADSQ identified the same categories where CHAs intake is misaligned with dietary recommendations: whole grains, total fruit, and dairy. Difficulties were encountered in translating 13 out of 26 questions. CONCLUSIONS: The ADSQ may be a useful tool to identify intervention targets for improving dietary quality, but caution is warranted when interpreting vegetable and added sugar estimates. Differences in the English and Chinese languages underscore the need to take into account both literal translations and semantics in translating the ADSQ into other languages.

Relative validity of a Diet Risk Score (DRS) for Chinese American adults.

Objective: The objective of this study was to evaluate the relative validity of the nine-item Diet Risk Score (DRS) among Chinese American adults using Healthy Eating Index (HEI)-2015 scores. We provide insights into the application of the Automated Self-Administered 24-Hour Dietary Assessment Tool (ASA24) for this population, and report on lessons learned from carrying out participant recruitment during the COVID-19 pandemic. Methods: Thirty-three Chinese American adults (mean age=40; 36% male) were recruited from the community and through ResearchMatch. Participants completed the DRS and two 24-hour food records, which were entered into the ASA 24-Hour Dietary Assessment Tool (ASA24) by community health workers (CHWs). HEI-2015 scores were calculated from each food record and an average score was obtained for each participant. One-way analysis of variance and Spearman correlations were used to compare total and component scores between the DRS and HEI-2015. Results: Mean HEI-2015 score was 56.7/100 (SD 10.6) and mean DRS score was 11.8/27 (SD 4.7), with higher scores reflecting better and worse diets, respectively. HEI-2015 and DRS scores were inversely correlated (r=-0.43, p<0.05). The strongest correlations were between HEI-2015 Total Vegetables and DRS Vegetables (r=-0.5, p<0.01), HEI-2015 Total Vegetables and Green Vegetables (r=-0.43, p=0.01) and HEI-2015 Seafood/Plant Protein and DRS Fish (r=-0.47, p<0.01). The inability to advertise and recruit for the study in person at community centres due to pandemic restrictions impeded the recruitment of less-acculturated individuals. A lack of cultural food items in the ASA24 database made it difficult to record dietary intake as reported by participants. Conclusion: The DRS can be a valuable tool for physicians to identify and reach Chinese Americans at risk of cardiometabolic disease.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex, also including the accessory protein, NAA15. The full spectrum of human genetic variation in this pathway is currently unknown. Here we reveal the genetic landscape of variation in NAA10 and NAA15 in humans. Through a genotype-first approach, one clinician interviewed the parents of 56 individuals with NAA10 variants and 19 individuals with NAA15 variants, which were added to all known cases (N = 106 for NAA10 and N = 66 for NAA15). Although there is clinical overlap between the two syndromes, functional assessment demonstrates that the overall level of functioning for the probands with NAA10 variants is significantly lower than the probands with NAA15 variants. The phenotypic spectrum includes variable levels of intellectual disability, delayed milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities (including cortical visual impairment and microphthalmia). One female with the p.Arg83Cys variant and one female with an NAA15 frameshift variant both have microphthalmia. The frameshift variants located toward the C-terminal end of NAA10 have much less impact on overall functioning, whereas the females with the p.Arg83Cys missense in NAA10 have substantial impairment. The overall data are consistent with a phenotypic spectrum for these alleles, involving multiple organ systems, thus revealing the widespread effect of alterations of the NTA pathway in humans.

A Case Report of Iliopsoas Abscess Secondary to Small Bowel Fistula.

Iliopsoas abscesses (IPAs) are rare infections in the musculature that can be difficult to diagnose due to nonspecific presentations. These abscesses are most commonly caused by either the hematogenous spread of a separate infectious source in the body or secondary to Crohn's disease and are typically treated with antibiotic therapy and percutaneous drainage. For cases complicated by bowel disease, multiloculated psoas abscess, or gas-forming organisms, surgical drainage may be indicated. We present the case of an 81-year-old female with a history of colon cancer status post-cecum resection who presented with back pain, thigh pain, and constipation. Computerized tomography imaging showed concurrent small bowel obstruction and a right IPA extending down to the right thigh. Laparoscopic exploration revealed a small bowel fistulization to the right iliopsoas as the source of infection. Resection of the small bowel and surgical incision and drainage of the abscess were necessary for her treatment. The patient was discharged with vacuum-assisted closure of her wound after a hospital course complicated with chronic diarrhea. Bowel fistulization should be considered a potential cause of IPAs in patients with a complicated gastrointestinal history.

Assessing Equitable Inclusion of Underrepresented Older Adults in Alzheimer's Disease, Related Cognitive Disorders, and Aging-Related Research: A Scoping Review.

BACKGROUND AND OBJECTIVES: The rapidly aging and diversifying U.S. population is challenged by increases in prevalence of Alzheimer's disease (AD) and aging-related disorders. We conducted a scoping review to assess equitable inclusion of diverse older adult populations in aging research focused on National Institutes of Health (NIH)-sponsored research. RESEARCH DESIGN AND METHODS: The scoping review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocol. The search was limited to NIH-funded studies focusing on aging, AD, and Alzheimer's disease-related dementias (ADRD) and included adults aged 55 and older. The priority populations and health disparities put forth by the National Institute on Aging Health Disparities Framework serve as a model for guiding inclusion criteria and for interpreting the representation of these underrepresented groups, including racial-ethnic minorities, socioeconomically disadvantaged, rural populations, groups with disabilities, and lesbian, gay, bisexual, transgender, and queer or questioning (LGBTQ) communities. RESULTS: Our search identified 1,177 records, of which 436 articles were included in the analysis. Inclusion of individuals with ADRD and mild cognitive impairment, racial-ethnic minorities, rural populations, socioeconomically disadvantaged, groups with disabilities, and LGBTQ communities were poorly specified in most studies. Studies used multiple recruitment methods, conducting studies in community settings (59%) and hospitals/clinics (38%) most frequently. Incentives, convenience factors, and sustained engagement via community-based and care partners were identified as key strategies for improved retention. DISCUSSION AND IMPLICATIONS: This scoping review identified gaps in existing literature and aims for future work, including stronger research focus on, better inclusion of, and improved data collection and reporting of older adults from underrepresented groups.

Adaptation of a Dietary Screener for Asian Americans.

No brief dietary screeners are available that capture dietary consumption patterns of Asian Americans. The purpose of this article is to describe the cultural adaptation of the validated Dietary Screener Questionnaire (DSQ) for use by clinicians, researchers, and community-based partners seeking to understand and intervene on dietary behaviors among English-speaking Asian Americans, for the six largest Asian subgroups (Chinese, Filipino, Asian Indian, Vietnamese, Korean, Japanese) in the United States. This was mainly accomplished by adding culturally specific examples of foods to the questionnaire items via searching online databases and soliciting input from members of our community partner network representing each of the six largest Asian subgroups. Over half of the 26 items on the DSQ were modified to include more culturally specific foods. Developing high-quality tools that reflect the diversity of the U.S. population are critical to implement nutrition interventions that do not inadvertently widen health disparities.

Bridging the Gap from Student to Doctor: Developing Coaches for the Transition to Residency.

BACKGROUND: A lack of educational continuity creates disorienting friction at the onset of residency. Few programs have harnessed the benefits of coaching, which can facilitate self-directed learning, competency development, and professional identity formation, to help ease this transition. OBJECTIVE: To describe the process of training faculty Bridge Coaches for the Transition to Residency Advantage (TRA) program for interns. METHODS: Nineteen graduate faculty educators participated in a coaching training course with formative skills assessment as part of a faculty development program starting in January 2020. Surveys (n = 15; 79%) and a focus group (n = 7; 37%) were conducted to explore the perceived impact of the training course on coaching skills, perceptions of coaching, and further program needs during the pilot year of the TRA program. RESULTS: Faculty had strong skills around establishing trust, authentic listening, and supporting goal-setting. They required more practice around guiding self-discovery and following a coachee-led agenda. Faculty found the training course to be helpful for developing coaching skills. Faculty embraced their new roles as coaches and appreciated having a community of practice with other coaches. Suggestions for improvement included more opportunities to practice and receive feedback on skills and additional structures to further support TRA program encounters with coaches. CONCLUSIONS: The faculty development program was feasible and had good acceptance among participants. Faculty were well-suited to serve as coaches and valued the coaching mindset. Adequate skills reinforcement and program structure were identified as needs to facilitate a coaching program in graduate medical education.

Social Determinants of Health and Diabetes-Related Distress in Patients With Insulin-Dependent Type 2 Diabetes: Cross-sectional, Mixed Methods Approach.

BACKGROUND: Social determinants of health (SDOH) refer to the social, economic, and psychosocial conditions that influence health. Lower levels of SDOH factors including income, education, and employment are associated with a higher prevalence of diabetes, poorer glycemic control, and increased diabetes-related mortality. Few studies have conducted a comprehensive evaluation of multiple SDOH factors in a population with type 2 diabetes mellitus (T2DM). OBJECTIVE: This study aimed to identify the range of SDOH challenges-including diabetes-related distress-that impact patients with insulin-dependent diabetes at an urban safety-net clinic using the 5-domain SDOH framework developed by the Healthy People 2020 initiative. METHODS: The pilot study used a cross-sectional, mixed methods approach. Participants were recruited from 3 programs within a general internal medicine clinic that provides ambulatory care for patients with uncontrolled T2DM. We administered an investigator-developed SDOH survey based on the Healthy People 2020 framework and the validated Diabetes Distress Scale (DDS), which assesses 4 domains of diabetes-related distress. One-on-one interviews were conducted to gain in-depth information about challenges. RESULTS: In total, 57 participants had an average hemoglobin A1c level of 11.0% (SD 2.6%). Overall, 92% (52/57) of participants had a barrier in at least one SDOH domain. SDOH challenges were most commonly reported in the domain of Health and Health Care (84%, 48/57), followed by Economic Stability (54%, n=31), Neighborhood and Built Environment (53%, n=30), Education and Health Literacy (47%, n=27), and Social and Community context (37%, n=21). The mean overall DDS score was 2.09 (SD 0.84), where scores of ≥2 indicate distress. Further, 79% (45/57) of participants had at least moderate diabetes-related distress in one of the 4 DDS domains. General themes that emerged from participant interviews included job interference with healthy behaviors, concerns about burdening others, challenges communicating with providers, and difficulty getting appointments in a timely manner. CONCLUSIONS: We found high levels of SDOH barriers across all 5 domains of the Center for Disease Control and Prevention's Healthy People 2020 framework, including significant levels of diabetes-related distress. Future programs to address SDOH barriers in patients with uncontrolled insulin-dependent diabetes should consider screening for and focusing on a wide range of challenges.

Transition of a Text-Based Insulin Titration Program From a Randomized Controlled Trial Into Real-World Settings: Implementation Study.

BACKGROUND: The Mobile Insulin Titration Intervention (MITI) program helps patients with type 2 diabetes find their correct basal insulin dose without in-person care. Requiring only basic cell phone technology (text messages and phone calls), MITI is highly accessible to patients receiving care in safety-net settings. MITI was shown in a randomized controlled trial (RCT) to be efficacious at a New York City (NYC) safety-net clinic where patients often have challenges coming for in-person care. In 2016, MITI was implemented as usual care at Bellevue Hospital (the site of the original RCT) and at Gouverneur Health (a second NYC safety-net clinic) under 2 different staffing models. OBJECTIVE: This implementation study examined MITI's transition into real-world settings. To understand MITI's flexibility, generalizability, and acceptability among patients and providers, we evaluated whether MITI continued to produce positive outcomes in expanded underserved populations, outside of an RCT setting. METHODS: Patients enrolled in MITI received weekday text messages asking for their fasting blood glucose (FBG) values and a weekly titration call. The goal was for patients to reach their optimal insulin dose (OID), defined either as the dose of once-daily basal insulin required to achieve either an FBG of 80-130 mg/dL (4.4-7.2 mmol/L) or as the reaching of the maximum dose of 50 units. After 12 weeks, if OID was not reached, the patients were asked to return to the clinic for in-person care and titration. MITI program outcomes, clinical outcomes, process outcomes, and patient satisfaction were assessed. RESULTS: MITI was successful at both sites, each with a different staffing model. Providers referred 170 patients to the program-129 of whom (75.9%, 129/170) were eligible. Of these, 113 (87.6%, 113/129) enrolled. Moreover, 84.1% (95/113) of patients reached their OID, and they did so in an average of 24 days. Clinical outcomes show that mean FBG levels fell from 209 mg/dL (11.6 mmol/L) to 141 mg/dL (7.8 mmol/L), P<.001. HbA1c levels fell from 11.4% (101 mmol/mol) to 10.0% (86 mmol/mol), P<.001. Process outcomes show that 90.1% of MITI's text message prompts received a response, nurses connected with patients 81.9% of weeks to provide titration instructions, and 85% of attending physicians made at least one referral to the MITI program. Satisfaction surveys showed that most patients felt comfortable sharing information over text and felt the texts reminded them to take their insulin, check their sugar, and make healthy food choices. CONCLUSIONS: This implementation study showed MITI to have continued success after transitioning from an RCT program into real-world settings. MITI showed itself to be flexible and generalizable as it easily fits into a second site staffed by general medical clinic-registered nurses and remained acceptable to patients and staff who had high levels of engagement with the program.

The search for causal traits of speciation: Divergent female mate preferences target male courtship song, not pheromones, in Drosophila athabasca species complex.

Understanding speciation requires the identification of traits that cause reproductive isolation. This remains a major challenge since it is difficult to determine which of the many divergent traits actually caused speciation. To overcome this difficulty, we studied the sexual cue traits and behaviors associated with rapid speciation between EA and WN sympatric behavioral races of Drosophila athabasca that diverged only 16,000-20,000 years ago. First, we found that sexual isolation was essentially complete and driven primarily by divergent female mating preferences. To determine the target of female mate choice, we found that, unlike cuticular hydrocarbons (CHCs), male courtship song is highly divergent between EA and WN in both allopatry and sympatry and is not affected by latitudinal variation. We then used pheromone rub-off experiments to show no effect of CHCs on divergent female mate choice. In contrast, both male song differences and male mating success in hybrids exhibited a large X-effect and playback song experiments confirmed that male courtship song is indeed the target of sexual isolation. These results show that a single secondary sexual trait is a major driver of speciation and suggest that we may be overestimating the number of traits involved in speciation when we study older taxa.