RESUMEN
Parosmia is a qualitative olfactory dysfunction characterized by distortion of odor perception. Traditional treatments for parosmia include olfactory training and steroids. Some patients infected with COVID-19 have developed chronic parosmia as a result of their infection. Here, we present the case of a patient who developed parosmia after a COVID-19 infection that was not improved by traditional treatments but found significant improvement after hyperbaric oxygen therapy[A1].
Asunto(s)
COVID-19 , Oxigenoterapia Hiperbárica , Trastornos del Olfato , Humanos , Oxigenoterapia Hiperbárica/efectos adversos , COVID-19/complicaciones , COVID-19/terapia , Trastornos del Olfato/etiología , Trastornos del Olfato/terapia , Entrenamiento Olfativo , OlfatoRESUMEN
Von Hippel-Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web-based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the α- or ß-domains of VHL. The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age-related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web-based design will facilitate broader international collaboration and lead to a better understanding of VHL.
Asunto(s)
Hemangioblastoma/genética , Feocromocitoma/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Enfermedad de von Hippel-Lindau/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Canadá/epidemiología , Sistema Nervioso Central/metabolismo , Sistema Nervioso Central/patología , Niño , Preescolar , Femenino , Hemangioblastoma/epidemiología , Hemangioblastoma/patología , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense/genética , Linaje , Penetrancia , Feocromocitoma/epidemiología , Feocromocitoma/patología , Adulto Joven , Enfermedad de von Hippel-Lindau/epidemiología , Enfermedad de von Hippel-Lindau/patologíaRESUMEN
BACKGROUND: There is a need for effective nonsurgical treatment options in patients with nonmuscle invasive bladder cancer (NMIBC) in whom Bacillus Calmette-Guerin (BCG) therapy has failed. OBJECTIVE: We aimed to determine the efficacy of Electromotive Drug Administration (EMDA) of mitomycin C (MMC) with NMIBC after BCG failure. DESIGN, SETTING, AND PARTICIPANTS: A retrospective review of 26 NMIBC patients in whom BCG therapy failed who received BCG/EMDA-MMC between 2013 and 2017 was performed. All but 4 patients fulfilled the FDA criteria for BCG unresponsive disease. Progression and recurrence-free survival (RFS)were calculated using Kaplan-Meier curves. Progression was defined as development of muscle invasive disease, presence of metastasis on imaging or treatment. We used FDA-defined criteria as complete response (CR) for single-arm trials of BCG-unresponsive patients. RESULTS AND LIMITATIONS: Twenty-six patients were included. Initial pathology was carcinoma in situ (CIS) in 53.8% (14/26), pT1 in 34.6% (9/26), and pTa HG disease in 11.6% (3/26). Twelve of 26 patients progressed (46.2%). Following BCG/EMDA-MMC treatment, progression-free survival rates were 58.3% (95% confidence interval [CI] 41.1-82.1) at 1 year and 48.9% (95% CI 48.9) at 2 years from the date of induction of BCG/EMDA-MMC, respectively. RFS was 41.9% (95% CI 25.9-67.8) at 1 year and 27.2% (95% CI 13.6-54.4) at 2 years. CR at 6, 12, and 18 months was observed in 16 (61.5%), 11 (44.0%), and 7 patients (30.4%), respectively. Side effects included dysuria (19.2%), hematuria (19.2%), and frequency (11.5%). Three patients were admitted for side effects but managed conservatively. Four patients (15.4%) died of bladder cancer over the course of the study. CONCLUSIONS: EMDA-MMC BCG represents a viable option in patients with BCG unresponsive NMIBC with close to 50% progression-free survival at 2 years. However, these patients have a high risk of death from bladder cancer (15% in our cohort at 2 years) thus warranting extremely close surveillance.