Multimodal Retinal Imaging Findings in Hardikar Syndrome.

PURPOSE: To describe the syndromic, clinical, and retinal findings of a patient with an extremely-rare genetic condition known as Hardikar Syndrome (HS) with presentation of optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiographic (FA), and indocyanine green angiographic (ICG) findings. METHODS: Clinical course was detailed and followed over time with examinations and multimodal imaging. PATIENT AND RESULTS: A 17-year-old patient with HS was referred for possible retinitis pigmentosa. Dilated fundoscopic examination revealed large, multifocal cauliform patches of chorioretinal retinal pigment epithelium (RPE) changes with RPE drop-out involving the macula and periphery in both eyes. Additionally, an inactive choroidal neovascular membrane (CNVM) was present in the left eye. Multimodal imaging with OCT, FAF, FA and ICG correlated with the clinical findings of focal patches of chorioretinal degeneration in both eyes. Additionally, an anomalous finding of the superior retinal arterial vessels filling in tandem with the choroidal was present in the left eye. The patient's clinical findings were consistent with HS, and genetic testing with whole exome sequencing revealed a pathogenic mutation in the MED12 gene, confirming diagnosis. DISCUSSION AND CONCLUSIONS: HS is associated with RPE degeneration, creating focal patches of pigmentary chorioretinal atrophic lesions. Vision loss can occur due to the development of CNVMs. We recommend close evaluation and follow-up for HS patients with multimodal retinal imaging.

Spontaneous Improvement of Myopic Retinoschisis Following a Long-term Observational Period: A Case Series.

PURPOSE: To highlight spontaneous resolution or improvement of myopic retinoschisis (MR) in actively surveilled patients. METHODS: Case series of five patients diagnosed with MR who did not undergo pars-plana vitrectomy and were carefully monitored by a single retina specialist. Ocular and medical history were reviewed, and clinical characteristics including visual acuity, and the status of the MR were monitored with spectral domain ocular coherence tomography (SD-OCT) at each clinic visit. RESULTS: Five patients with were identified to have MR without vitreomacular traction, or macular hole formation. Two patients exhibited spontaneous and complete resolution of MR without surgical intervention over an average observation time of 52.5 months. In these cases, a clinical posterior vitreous detachment (PVD) was documented preceding the resolution of MR over an average time of 26.5 months. Snellen best corrected visual acuity (BCVA) in these patients were improved (Case 1 from 20/50 to 20/40, Case 2 from 20/30 to 20/25). The remaining three patients were monitored for an average of 52 months and showed improvement of MR via OCT imaging. Snellen BCVA either remained stable or improved from baseline (Case 3 stable at 20/30, Case 4 improved from 20/40 to 20/30, and Case 5 stable at 20/20). CONCLUSION: These findings suggest that conservative management of MR with observation can be considered especially in patients with challenging co-morbidities (such as monocular status), and with a clinically identified posterior vitreous detachment without vitreomacular traction.

Unplanned Intensive Care Unit Admission Following Cleft Palate Repair by Head and Neck Surgeons.

OBJECTIVE: To examine the incidence of pediatric intensive care unit (PICU) admission following primary repair of cleft palate by otolaryngologist-head and neck surgeons at 2 tertiary centers. To identify potential diagnoses associated with admission or unanticipated PICU transfer. STUDY DESIGN: Multi-institutional case series with chart review. SETTING: Two tertiary pediatric medical centers. METHODS: Children who underwent primary repair of cleft palate at 2 cleft centers over a 10-year period were identified. Charts were reviewed for demographics, comorbidities, and whether PICU admission was required. RESULTS: From 2009 to 2019, 464 patients underwent primary repair of a cleft palate by 1 of 6 otolaryngologist-head and neck surgeons with subspecialty training in cleft surgery; 459 patients had sufficient postoperative documentation and 443 children met inclusion criteria. The incidence of PICU admission was 9.3% (41/443), with 33 (7.4%) planned admissions and 8 (1.8%) unexpected PICU transfers. Syndromic conditions were associated with both planned and unanticipated PICU admissions. CONCLUSION: The incidence of unanticipated postoperative PICU admission following cleft palate repair by otolaryngologist-head and neck surgeons was low. Risk stratification by surgeons with expertise in airway management may inform decisions regarding postoperative disposition of patients with medical or airway complexity who are undergoing cleft palate repair.

A qualitative study of barriers and enablers associated with colorectal cancer screening among Somali men in Minnesota.

The rate of cancer screening is generally increasing in the US. In Minnesota, the statewide average rate of screening for colorectal cancer (CRC) is 73%. However, screening completion is relatively low among Somali men; overall, only 27% of Somali immigrants have been screened for CRC. Factors contributing to this disparity have not been well researched. The purpose of this pilot study was to employ focus group methodology to describe and advance understanding of the barriers and enablers associated with CRC screening among Somali men ages 50-74 in Minnesota. Three focus groups were conducted among 27 Somali men in Minnesota. A 9-question, semi-structured interview guide was used. The sessions were audio recorded, transcribed verbatim, and checked for accuracy by research staff prior to data analysis. Three research team members utilized the constant comparative method and NVivo to conduct data analysis. Five barriers to CRC screening emerged from the analyses: (1) lack of knowledge, (2) emotional barriers, (3) acculturation, (4) accountability, and (5) fatalistic beliefs. In addition, two factors enabling CRC screening and prevention emerged: the need for tailored interventions and preventive lifestyle behaviors. The insights gained from this research will assist in developing health promotion and education-focused interventions that encourage Somali immigrants in Minnesota and beyond to seek early detection screening for CRC.Abbreviations: CRC: Colorectal Cancer; FIT: Fecal Immunochemical Test; FOBT: Fecal Occult Blood Test; FQHC: Federally Qualified Health Center; PA: Project Assistant; PI: Principal Investigator.

Attitudes Toward Genomic Testing and Prostate Cancer Research Among Black Men.

INTRODUCTION: Black men are diagnosed with prostate cancer at nearly twice the rate of white men and are underrepresented in prostate cancer research, including validation studies of new clinical tools (e.g., genomic testing). Because healthcare system mistrust has contributed to these disparities for centuries, black men may be less inclined to pursue novel testing, and identification of facilitators to their participation in prostate cancer research studies remains warranted. METHODS: A community-engaged approach involving a partnership with a community organization was used to conduct seven focus groups in Minnesota, Alabama, and California to explore black men's attitudes toward prostate cancer research participation and genomic testing for prostate cancer. Data were collected and analyzed from April 2015 to April 2017. RESULTS: Identified genomic testing barriers included a lack of terminology understanding, healthcare system mistrust, reluctance to seek medical care, and unfavorable attitudes toward research. Facilitators included family history, value of prevention, and the desire for health education. Lack of prostate cancer knowledge, prostate-specific antigen testing confusion, healthcare system distrust, and misuse of personal health information were barriers to research study participation. Some black men were motivated to participate in research if it was seen as constructive and transparent. CONCLUSIONS: Disparities for black men can both motivate and disincentivize participation depending upon a positive or negative view of research. Confusion over prostate cancer clinical care has fueled some mistrust among black men affecting both clinical care and research participation. With increased education, health literacy, and assurances of research integrity and transparency, black men may be more willing to participate in prostate cancer testing and research. SUPPLEMENT INFORMATION: This article is part of a supplement entitled African American Men's Health: Research, Practice, and Policy Implications, which is sponsored by the National Institutes of Health.