Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).

BACKGROUND: Dystroglycanopathies are a heterogeneous group of membrane-related muscular dystrophies. The dystroglycanopathy phenotype includes a spectrum of severity ranging from severe congenital muscular dystrophy to adult-onset limb-girdle muscular dystrophy (LGMD). LGMDR9 is a dystroglycanopathy caused by mutations in the FKRP gene. Previous studies have characterized electroretinogram findings of dystroglycanopathy mouse models but have not been reported in humans. PURPOSE: This study set out to characterize the electroretinogram in eight participants with LGMDR9. METHODS: Eight participants were recruited from an ongoing dystroglycanopathy natural history study at the University of Iowa (NCT00313677). Inclusion criteria for the current study were children and adults > 6 years old with confirmed LGMDR9. Age similar controls were identified from our electrophysiology service normative control database. Full-field electroretinograms were recorded using ISCEV standards. Six of the eight participants underwent light-adapted ON/OFF testing. RESULTS: The electronegative electroretinogram was not seen in any participants with LGMDR9. An unusual sawtooth pattern in the 30 Hz flicker with faster rise than descent was noted in all 8 participants. Our cases showed a decreased b-wave amplitude in light-adapted ON responses (p = 0.011) and decreased d-wave amplitude in light-adapted OFF responses (p = 0.015). Decreased b-wave amplitude in light-adapted 3.0 testing (p = 0.015) and decreased flicker ERG amplitudes were also detected (p = 0.0018). Additionally, compared to controls, participants with LGMDR9 had decreased a-wave amplitudes on dark-adapted 10 testing (p = 0.026). CONCLUSIONS: Abnormal ON/OFF bipolar cell responses and sawtooth 30 Hz flicker waveforms on full-field electroretinogram may be specific for LGMDR9. If confirmed in a larger population and if related to disease stage, these tests are potential biomarkers which could be useful as endpoints in clinical treatment trials.

Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.

BACKGROUND: Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation. CASE PRESENTATION: A three-year-old male was discovered to have nanophthalmos after first presenting to the emergency department for a frontal headache, eye pain, emesis, and lethargy. Imaging studies (CT and MRI) were negative except for increased posterior fossa cerebrospinal fluid. Subsequent examinations revealed nanophthalmos (short axial eye lengths 18.1 mm OD and 18.3 mm OS), microcornea, and a large crystalline lens. Peripheral chorioretinal pigment abnormalities were also observed. He experienced episodes of marked ocular hypertension (53 mmHg OD and 60 mmHg) likely due to intermittent angle closure precipitated by nanophthalmos. The ocular hypertension was responsive to topical medicines. Genetic analysis of known nanophthalmos genes MFRP and TMEM98 were negative, while a novel mutation, Thr518Met was detected in MYRF. The Thr518Met mutation was absent from 362 matched normal controls and was extremely rare in a large population database, allele frequency of 0.000024. The Thr518Met mutation altered a highly conserved amino acid in the MYRF protein and three of four algorithms suggested that this mutation is likely pathogenic. Finally, molecular modeling showed that the Thr518Met mutation is damaging to MYRF structure. Together these data suggest that the Thr518Met mutation causes nanophthalmos. CONCLUSIONS: Nanophthalmos may present at an early age with features of angle closure glaucoma and a Thr518Met mutation in MYRF was detected in a patient with nanophthalmos. Prevalence data, homology data, mutation analysis data, and protein modeling data suggest that this variant is pathogenic and may expand the phenotypic range of syndromic nanophthalmos caused by MYRF mutations to include central nervous system abnormalities (increased posterior fossa cerebrospinal fluid).

Impact of a Reading Room Coordinator on Efficiency of On-Call Radiology Residents.

OBJECTIVES: Few level I trauma, tertiary care, academic centers have a paid, permanent reading room coordinator (RRC) to facilitate image management services during off-hour calls, to minimize interruptions to reading workflow. The purpose of this study is to investigate the effect of an RRC on the efficiency of radiology residents signing preliminary reports for emergency department (ED) and inpatient studies. METHODS: A pre- and postintervention retrospective review was performed, using carestream PACS to retrieve imaging studies read on call during two time periods-July 1 to December 1, 2019 (pre-RRC), and July 1 to December 1, 2021 (post-RRC). Efficiency of residents signing preliminary reports was measured by turnaround time (TAT), defined as the time from when a study was marked complete by a technologist to when a preliminary report was signed by a resident, in PACS. RESULTS: In the above time periods, residents interpreted a total of 64,406 studies on call. For ED studies, the mean TAT was 7.0 min shorter post-RRC, compared with pre-RRC (95% confidence interval [CI]: -7.8 to -6.1, (t = 15.50, degrees of freedom (df) = 31,866, P < .0001). The percentage of ED studies signed within 30 min increased from 57.7% to 65.8%, an increase of 8.1% (95% CI: 7.0% to 9.1%) after employing an RRC (χ2 = 228.11, df = 1, P < .0001). For inpatient studies, the mean TAT was 10.2 min shorter post-RRC (95% CI: -12.3 to -8.0, t = 9.22, df = 25,193, P < .0001). CONCLUSIONS: An RRC increased radiology resident on-call workflow efficiency, facilitating care for patients in both the ED and inpatient setting.

Utility of cardiac magnetic resonance imaging in diagnosing eosinophilic myocarditis in a patient recently recovered from COVID-19: a grand round case report.

Background: Eosinophilic myocarditis (EM) secondary to eosinophilic granulomatosis with polyangiitis (EGPA) is a rare disease, for which cardiac magnetic resonance imaging (CMRI) is a useful non-invasive modality for diagnosis. We present a case of EM in a patient who recently recovered from COVID-19 and discuss the role of CMRI and endomyocardial biopsy (EMB) to differentiate between COVID-19-associated myocarditis and EM. Case summary: A 20-year-old Hispanic male with a history of sinusitis and asthma, and who recently recovered from COVID-19, presented to the emergency room with pleuritic chest pain, dyspnoea on exertion, and cough. His presentation labs were pertinent for leucocytosis, eosinophilia, elevated troponin, and elevated erythrocyte sedimentation rate and C-reactive protein. The electrocardiogram showed sinus tachycardia. Echocardiogram showed an ejection fraction of 40%. The patient was admitted, and on day 2 of admission, he underwent CMRI which showed findings of EM and mural thrombi. On hospital day 3, the patient underwent right heart catheterization and EMB which confirmed EM. The patient was treated with steroids and mepolizumab. He was discharged on hospital day 7 and continued outpatient heart failure treatment. Discussion: This is a unique case of EM and heart failure with reduced ejection fraction as a presentation of EGPA, in a patient who recently recovered from COVID-19. In this case, CMRI and EMB were critical to identify the cause of myocarditis and helped in the optimal management of this patient.

Influential Factors in the Recovery Process of Burn Survivors in a Predominately Rural State: A Qualitative Study.

Navigating the recovery journey following a burn injury can be challenging. Survivor stories can help define recovery constructs that can be incorporated into support programs. We undertook this study to determine themes of recovery in a predominately rural state. Eleven purposefully selected burn survivors were interviewed using a semi-structured format. Consensus coding of verbatim transcriptions was used to determine themes of successful recovery. Four support-specific themes were identified. These included: using active coping strategies, expressing altruism through helping others, finding meaning and acceptance, and the active seeking and use of support. These themes could be incorporated into support programming and would help guide future survivors through the recovery period.

"More than Scabs and Stitches": An Interview Study of Burn Survivors' Perspectives on Treatment and Recovery.

Sustaining a burn injury often results in a life-long recovery process. Survivors are impacted by changes in their mobility, appearance, and ability to carry out activities of daily living. In this study, we examined survivors' accounts of their treatment and recovery in order to identify specific factors that have had significant impacts on their well-being. With this knowledge, we may be better equipped to optimize the care of burn patients. We conducted inductive, thematic analysis on transcripts of in-depth, semistructured interviews with 11 burn survivors. Participants were purposefully selected for variability in age, gender, injury size and mechanism, participation in peer support, and rurality. Survivors reported varied perceptions of care quality and provider relationships. Ongoing issues with skin and mobility continued to impact their activities of daily living. Many survivors reported that they did not have a clear understanding or realistic expectations of the recovery process. Wound care was often described as overwhelming and provoked fear for many. Even years later, trauma from burn injury can continue to evolve, creating fears and impediments to daily living for survivors. To help patients understand the realistic course of recovery, providers should focus on communicating the nature of injury and anticipated recovery, developing protocols to better identify survivors facing barriers to care, and referring survivors for further support.