Case report: Filamin A mutation lung disease recognized in an 11-year-old child.

The loss of function (LOF) due to mutations in the Filamin A (FLNA) gene may result in abnormality of the FLNA protein. Of the many clinical syndromes, this condition may produce chronic lung disease, which usually presents and is diagnosed in the infant/toddler age group. Its clinical pattern may mimic broncho-pulmonary dysplasia. It is part of the entities included in childhood interstitial lung disease group of disorders. We are herein reporting a patient that was diagnosed with FLNA-associated lung disease at 11 years of age. This case provides a unique insight into the long-term course of lung disease in this illness and broadens our understanding of the spectrum of its presentation. Although the patient had symptoms early in life, the diagnosis was not entertained because of the rarity of the disorder, its atypical and clinically mild presentation, and discontinuous care due to parents moving to different cities for employment reasons. Her presentation to our institution was for pneumonia. Due to highly unusual chest X-ray images, asthenia, and early clubbing, an extensive workup included further imaging and a lung biopsy. The final diagnosis was confirmed by the detection of FLNA LOF gene mutation.

How Diverse Is Your Universe? An Activity for Students to Reflect on Ethnoracial Diversity During Orientation.

Introduction: Physicians' unconscious biases have been linked to health disparities within ethnic and racially diverse communities. Addressing these unconscious biases is difficult but may be ameliorated by raising individuals' awareness of the ethnoracial makeup of their personal and professional networks and reflecting on whether it needs to be expanded while in medical school. Methods: First- and second-year students were provided with an overview of the ethnoracial makeup of individuals within the state, community, and medical school as a means to reflect on the ethnoracial makeup of their future patient population. Following this overview, students engaged in an activity adapted from the University of Houston, which allowed them to visually represent the ethnoracial diversity within their networks. Written reflections on the adapted activity were collected, analyzed using manifest content analysis, and reported according to themes. Results: The results indicated that the activity was valuable in helping students visualize their current exposure to ethnoracially diverse individuals (143 of 357 responses [40%]) and reflect on their need to expand the level of ethnoracial diversity in their lives (47 of 357 responses [13%]). Additionally, students provided comments to help improve the activity when used in another institution. Discussion: Assisting students in raising their awareness of the ethnoracial diversity in their personal and professional networks is a step toward addressing the unconscious biases that emerge in physicians while in clinical practice. This activity, designed to raise students' awareness of ethnoracial diversity, originated in Augusta, Georgia, but can be adapted to any state.