Cutaneous Lagenidium deciduum infection in a patient with relapsed acute myeloid leukemia.

BACKGROUND: Lagenidium deciduum is an oomycete that can cause infections in mammals that present similarly to pythiosis and mucormycosis. Most of the existing case reports have occurred in canines and have been fatal. In animals, medical therapy has not been successful, so surgical excision is the mainstay of treatment. Lagenidium sp. infections in humans are rare. There is only one case of a human Lagenidium sp. infection in the literature, and it presented as an ocular infection. The human ocular infection was resistant to medical therapy and required a penetrating keratoplasty for cure. Additional reports of effective therapy are needed to guide management of this emerging pathogen. We present the first case of a cutaneous Lagenidium deciduum infection in a human patient, which is also the first documented case of a Lagenidium deciduum infection in an immunocompromised host of any species. CASE PRESENTATION: An 18-year-old female with relapsed acute myeloid leukemia, awaiting a haploidentical stem cell transplant, presented with erythematous cutaneous lesions on her left hip and bilateral buttocks that enlarged and blackened over several days. About 1 week later, boil-like lesions appeared on her bilateral buttocks. The skin lesions were initially presumed to be bacterial in origin, so the patient was treated with clindamycin and cefepime with little improvement. Upon further investigation, fungal cultures and skin biopsies revealed aseptate hyphae, so the patient was switched to isavuconazole and amphotericin B due to concern for mucormycosis. Phenotypic characterization and DNA sequencing were performed by the Fungus Testing Laboratory, University of Texas Health Science Center at San Antonio, which identified the causal fungal organism as Lagenidium deciduum. All of her cutaneous lesions were surgically excised, and the patient was treated with micafungin, terbinafine, doxycycline, and azithromycin. Micafungin and terbinafine were continued until she achieved engraftment post-transplant. CONCLUSIONS: We report the first successful treatment of a human Lagenidium infection in an immunocompromised host through a combination of aggressive surgical excision and prolonged antifungal therapy during the prolonged neutropenia associated with allogeneic stem cell transplant. Prompt diagnosis and management may prevent disseminated oomycosis.

ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster.

A severe form of infantile cardiomyopathy (CM) has been linked to mutations in ELAC2, a highly conserved human gene. It encodes Zinc phosphodiesterase ELAC protein 2 (ELAC2), which plays an essential role in the production of mature tRNAs. To establish a causal connection between ELAC2 variants and CM, here we used the Drosophila melanogaster model organism, which carries the ELAC2 homolog RNaseZ. Even though RNaseZ and ELAC2 have diverged in some of their biological functions, our study demonstrates the use of the fly model to study the mechanism of ELAC2-related pathology. We established transgenic lines harboring RNaseZ with CM-linked mutations in the background of endogenous RNaseZ knockout. Importantly, we found that the phenotype of these flies is consistent with the pathological features in human patients. Specifically, expression of CM-linked variants in flies caused heart hypertrophy and led to reduction in cardiac contractility associated with a rare form of CM. This study provides first experimental evidence for the pathogenicity of CM-causing mutations in the ELAC2 protein, and the foundation to improve our understanding and diagnosis of this rare infantile disease. This article has an associated First Person interview with the first author of the paper.

Provider documentation of electronic nicotine delivery systems use among patients prescribed contraception at an academic health center in the Southeastern United States.

PURPOSE: Women on combined hormonal contraception (CHC) who use electronic nicotine delivery systems (ENDS) may be vulnerable to adverse cardiovascular events. To date, no study has examined whether clinicians screen for ENDS use when prescribing CHC. Therefore, we investigated documentation of ENDS screening and counseling in the electronic health record (EHR) of women prescribed CHC. METHODS: We conducted a retrospective EHR review and content analysis at an academic health center in the Southeastern United States. We randomly selected 500 records of female patients 12 years and older who had been prescribed contraception and had ENDS documented in their records identified via keyword match. Records prior to July 2020 were reviewed between June-September 2020. RESULTS: Of the 500 patients, 245 (49%) were ENDS users and 227 (45.4%) were non-ENDS users. Among ENDS users, there were 82 contraception-related encounters with ENDS documentation. In 55 (67.1%) of these encounters, only ENDS use status was documented. The provider counseled against ENDS use in 17 (20.7%) records. Six (7.3%) notes documented provision of patient education materials instructing patients on contraception to refrain from using ENDS. Among non-ENDS users, there were 43 contraception-related encounters with ENDS documentation; 35 (81.4%) documented the patient did not use ENDS and 3 (7%) documented provision of patient education materials. CONCLUSION: ENDS use is under-documented in contraception-related encounters. Improvements in documentation may help assess long-term effects of concurrent ENDS and CHC use. These results illustrate the need to clarify EHR prompts and increase provider awareness to improve ENDS documentation.