RESUMEN
INTRODUCTION: The American Urological Association guidelines recommend against the performance of ultrasound and other imaging modalities in the evaluation of patients with cryptorchidism before expert consultation. We aimed to examine our institutional experience with cryptorchidism and measure adherence to currently available guidelines. METHODS: An institutional review board-approved retrospective review of ultrasound utilization in the evaluation of patients with cryptorchidism was performed from June 1, 2016, to June 30, 2019, at a single tertiary level pediatric hospital. RESULTS: We identified 1796 patients evaluated in surgical clinics for cryptorchidism. Surgical intervention was performed in 75.2% (n = 1351) of the entire cohort. Ultrasound was performed in 42% (n = 754), most of which were ordered by referring physicians (91% n = 686). Of those who received an ultrasound, surgical intervention was performed in 78% (n = 588). Those 166 patients (22%) who did not undergo surgical intervention were referred with ultrasounds suggesting inguinal testes; however, all had normal physical examinations or mildly retractile testes at the time of consultation and were discharged from the outpatient clinic. There were 597 patients referred without an ultrasound, 81% (n = 483) were confirmed to have cryptorchidism at the time of specialist physical examination and underwent definitive surgical intervention, the remainder (19%, n = 114) were discharged from the outpatient clinics. CONCLUSIONS: Ultrasound evaluation of cryptorchidism continues despite high-quality evidence-based guidelines that recommend otherwise, as they should have little to no bearing on the surgeon's decision to operate or the type of operation. Instead, physical examination findings should guide surgical planning.
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Criptorquidismo , Adhesión a Directriz , Ultrasonografía , Humanos , Criptorquidismo/diagnóstico por imagen , Criptorquidismo/cirugía , Masculino , Estudios Retrospectivos , Ultrasonografía/normas , Preescolar , Lactante , Adhesión a Directriz/estadística & datos numéricos , Niño , Guías de Práctica Clínica como Asunto , Testículo/diagnóstico por imagen , Testículo/cirugía , Derivación y Consulta/normas , Derivación y Consulta/estadística & datos numéricos , AdolescenteRESUMEN
Introduction: Pectus bar stabilizers are routinely used for bar fixation in the repair of pectus excavatum. We aimed to determine the optimum technique for bar fixation by reviewing our institutional experience with the use of bilateral, unilateral, and no stabilizer placement. Methods: Retrospective single pediatric center review of patients who underwent minimally invasive bar placement for pectus excavatum and subsequent bar removal between December 2001 and July 2019 was performed. Demographic data, details about the surgery, the number of bars and stabilizers used, and follow-up information were collected. Stabilizer-related complications included pain requiring stabilizer removal, surgical site infections (SSIs), and bar displacement. Data are presented as medians with interquartile ranges (IQRs) and frequencies with percentages. Results: A total of 561 patients were included. The cohort was predominantly male (83.1%, n = 466) with a median age at the time of bar placement of 15 years (IQR 12.4, 16.3) and a median Haller index of 3.8 (IQR 3.4, 4.5). Pain attributed to the stabilizer site that required removal was observed only in the bilateral stabilizer group (2.5%, n = 13). SSI related to the stabilizer site occurred in 1.8% (n = 9) of the bilateral stabilizer cases and 2.1% (n = 1) of the unilateral stabilizer cases. Bar displacement was observed in 0.6% (n = 3) of the bilateral stabilizer cases and 2 of those patients also had an SSI. There were no complications in the no stabilizer group. Conclusion: As the trend moves toward unilateral and no stabilizer use, we observe fewer cases of pain requiring stabilizer removal with no increase in bar displacements.
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Tórax en Embudo , Niño , Humanos , Masculino , Femenino , Tórax en Embudo/cirugía , Resultado del Tratamiento , Estudios Retrospectivos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , DolorRESUMEN
The Spt-Ada-Gcn Acetyltransferase (SAGA) complex is a highly conserved co-activator found across eukaryotes. It is composed of a number of modules which can vary between species, but all contain the core module. Hfi1 (known as TADA1 in Homo sapiens) is one of the proteins that forms the core module, and has been shown to play an important role in maintaining complex structural integrity in both brewer's yeast and humans. In this study we successfully identified the gene encoding this protein in the important fungal pathogen, Cryptococcus neoformans, and named it HFI1. The hfi1Δ mutant is highly pleiotropic in vitro, influencing phenotypes, ranging from temperature sensitivity and melanin production to caffeine resistance and titan cell morphogenesis. In the absence of Hfi1, the transcription of several other SAGA genes is impacted, as is the acetylation and deubiquination of several histone residues. Importantly, loss of the gene significantly impacts virulence in a murine inhalation model of cryptococcosis. In summary, we have established that Hfi1 modulates multiple pathways that directly affect virulence and survival in C. neoformans, and provided deeper insight into the importance of the non-enzymatic components of the SAGA complex.