Two Cases With Recurrent Challenges: Unraveling the Complexity of Heyde Syndrome With Rebleeding.

Heyde syndrome is characterized by the association between aortic stenosis and gastrointestinal bleeding. This report examines two cases of Heyde syndrome in elderly females who experience bleeding recurrence within months following aortic valve replacement (AVR). The discussion highlights the controversies surrounding the optimal management of Heyde syndrome, particularly in the context of AVR type (surgical vs. transcatheter) and postoperative complications. The report underscores the need for a multidisciplinary approach to Heyde syndrome management and the importance of individualized treatment strategies considering patient-specific factors such as lesion location and postoperative complications.

The effect of a low-nickel diet and nickel sensitization on gastroesophageal reflux disease: A pilot study.

BACKGROUND/AIMS: Gastroesophageal reflux disease (GERD) is a common medical condition, frequently refractory to medical therapy. Nickel is a leading cause of allergic contact dermatitis. Although nickel is widely found in foods, the effect of nickel on GERD is unknown. This pilot study sought to evaluate the effect of a low-nickel diet on GERD and determine if epicutaneous patch testing to nickel could predict responsiveness to a low-nickel diet. METHODS: This prospective, single-site pilot study recruited 20 refractory GERD patients as determined by GERD Health-Related Quality of Life (GERD-HRQL) scores. All patients had epicutaneous patch testing for nickel and were then instructed to follow a low-nickel diet for 8 weeks regardless of patch test results. GERD-HRQL was recorded at baseline and following 8 weeks of a low-nickel diet. Demographic and clinical data associated with GERD and nickel allergy were recorded. A Wilcoxon signed-rank test and nonparametric analysis of longitudinal data were run to determine statistical significance in pre- and post- GERD-HRQL scores in nickel patch test-positive and negative groups. RESULTS: Nearly all (19/20 [95%]) participants reported reduced GERD symptoms after 8 weeks on a low-nickel diet. Mean total GERD-HRQL, regurgitation, and heartburn scores declined (27.05 ± 16.04, 11.45 ± 6.46, 10.85 ± 8.29). Participants with positive vs. negative patch testing to nickel responded equivalently to a low-nickel diet. CONCLUSIONS: A low-nickel diet improves GERD symptoms, but responsiveness to a low-nickel diet does not correlate with epicutaneous patch testing to nickel. TRIAL REGISTRATION: ClinicalTrials.gov number: NCT03720756.

Hereditary Trichilemmal Cysts are Caused by Two Hits to the Same Copy of the Phospholipase C Delta 1 Gene (PLCD1).

The autosomal dominant presentation of trichilemmal cysts is one of the most common single gene familial diseases in humans. However, the genetic basis for the inheritance and genesis of these lesions has remained unknown. We first studied patients with multiple trichilemmal cysts using exome and Sanger sequencing. Remarkably, 21 of 21 trichilemmal cysts from 16 subjects all harbored a somatic p.S745L (c.2234 G > A) mutation in phospholipase C delta 1 (PLCD1), a proposed tumor suppressor gene. In addition to this specific somatic mutation in their tumors, 16 of the 17 subjects with multiple trichilemmal cysts were also heterozygous for a p.S460L (c.1379 G > A) germline variant in PLCD1 which is normally present in only about 6% of this population. The one patient of 17 that did not show the p.S460L germline variant had a germline p.E455K (c.1363 C > T) mutation in the same exon of PLCD1. Among 15 additional subjects, with a history suggesting a single sporadic trichilemmal cyst, six were likely familial due to the presence of the p.S460L germline variant. Of the remaining truly sporadic trichilemmal cysts that could be sequenced, only half showed the p.S745L somatic mutation in contrast to 100% of the familial cysts. Surprisingly, in contrast to Knudsen's two hit hypothesis, the p.S745L somatic mutation was always on the same chromosome as the p.S460L germline variant. Our results indicate that familial trichilemmal cysts is an autosomal dominant tumor syndrome resulting from two hits to the same allele of PLCD1 tumor suppressor gene. The c.1379 G > A base change and neighboring bases are consistent with a mutation caused by ultraviolet radiation. Our findings also indicate that approximately one-third of apparently sporadic trichilemmal cysts are actually familial with incomplete penetrance. Sequencing data suggests that the remaining, apparently sporadic, trichilemmal cysts are genetically distinct from familial cysts due to a lack of the germline mutations that underlie familial cysts and a decreased prevalence of the p.S745L somatic mutation relative to familial trichilemmal cysts.

The influence of social media on acne treatment: A cross-sectional survey.

BACKGROUND/OBJECTIVES: Social media use has been suggested to worsen psychiatric health among adolescents, especially those with visible skin lesions including acne. However, little is known about social media's impact on acne treatment. The purpose of the study sought to characterize the influence of social media use on acne treatment. METHODS: We conducted a cross-sectional survey of West Virginia University ambulatory patients whose chief complaint was acne was conducted. The survey collected sociodemographics and queried whether individuals accessed social media for acne treatment advice or not, whether changes to acne care were made based on social media, and whether these changes aligned with the American Academy of Dermatology (AAD) clinical guidelines for acne management. RESULTS: Of 130 respondents, 45% consulted social media for acne treatment advice (54% of women vs 31% of men). 41% of adolescents and 51% of adults consulted social media. The most used platforms were YouTube and Instagram (58% each). Social media users often tried an OTC treatment (81%) or dietary modification (40%). However, only 31% of participants consulting social media made changes fully aligned with AAD clinical guidelines. CONCLUSIONS: Social media-influenced acne treatment advice is prevalent, especially among women, adolescents, and young adults. This treatment advice frequently does not align with AAD guidelines, with notably 40% of respondents choosing dietary modification for acne management. These results suggest that dermatologists should inquire about social media acne treatment advice and directly address misinformation.

Conjugative Transposons and Their Cargo Genes Vary across Natural Populations of Rickettsia buchneri Infecting the Tick Ixodes scapularis.

Rickettsia buchneri (formerly Rickettsia endosymbiont of Ixodes scapularis, or REIS) is an obligate intracellular endoparasite of the black-legged tick, the primary vector of Lyme disease in North America. It is noteworthy among the rickettsiae for its relatively large genome (1.8 Mb) and extraordinary proliferation of mobile genetic elements (MGEs), which comprise nearly 35% of its genome. Previous analysis of the R. buchneri genome identified several integrative conjugative elements named Rickettsiales amplified genomic elements (RAGEs); the composition of these RAGEs suggests that continued genomic invasions by MGEs facilitated the proliferation of rickettsial genes related to an intracellular lifestyle. In this study, we compare the genomic diversity at RAGE loci among sequenced rickettsiae that infect three related Ixodes spp., including two strains of R. buchneri and Rickettsia endosymbiont of Ixodes pacificus strain Humboldt, as well as a closely related species R. tamurae infecting Amblyomma testudinarium ticks. We further develop a novel multiplex droplet digital PCR assay and use it to quantify copy number ratios of chromosomal R. buchneri RAGE-A and RAGE-B to the single-copy gene gltA within natural populations of I. scapularis. Our results reveal substantial diversity among R. buchneri at these loci, both within individual ticks as well as in the I. scapularis population at large, demonstrating that genomic rearrangement of MGEs is an active process in these intracellular bacteria.

Infantile hemangiomas: what have we learned from propranolol?

PURPOSE OF REVIEW: Infantile hemangiomas are the most common vascular tumor of infancy. Treatment of infantile hemangiomas was revolutionized when propranolol, a nonselective ß-blocker, was reported to be effective therapy. In this review, we highlight the lessons learned using propranolol to treat infantile hemangiomas. We also describe the ongoing effort to understand the mechanism of action of propranolol. RECENT FINDINGS: Although the pathogenesis of infantile hemangiomas is not fully understood, maternal hypoxic stress and embolization of placental tissue are suggested to be critical components in their development. The mechanism of action of propranolol remains unclear, however various molecular mechanisms are detailed in this review. Propranolol treatment remains a well tolerated therapy, with low risk of adverse events or long-term neurocognitive effects. Dosing recommendations and optimal treatment duration vary among studies, and should be altered in patients with certain medical conditions such as Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies (PHACE) syndrome. SUMMARY: Propranolol is a well tolerated and effective treatment for infantile hemangiomas. The efficacy of propranolol for infantile hemangiomas is clear, however questions pertaining to mechanism of action, pretreatment risk stratification, and optimal dosing remain unanswered. The guidelines for managing infantile hemangiomas with propranolol will continue to adapt as research catches up to clinical experience.