Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships.

BACKGROUND: Gastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors. OBJECTIVES: Evaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations. METHODS: Cohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department. RESULTS: Eight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives). CONCLUSIONS: Although currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.

Alteraciones del olfato en el Covid-19, revisión de la evidencia e implicaciones en el manejo de la pandemia / Olfactory dysfunction in covid-19, a review of the evidence and implications for pandemic management

Existe debate sobre si las alteraciones en el olfato deberían considerarse un síntoma de infección por COVID-19, dadas las implicaciones en el manejo del propio síntoma, en la realización de pruebas diagnósticas y en la aplicación de medidas de aislamiento. Se realizó una revisión sistemática bibliográfica de los artículos indexados en PubMed sobre alteraciones del olfato en cuadros virales de vías respiratorias, con especial énfasis en el COVID-19. El objetivo principal fue encontrar evidencia de interés clínico que apoye la relación entre ansomia y COVID-19. Las alteraciones del olfato en procesos infecciosos de vías altas son frecuentes, en su mayoría responden a una causa obstructiva por edema de la mucosa nasal. Ocasionalmente aparece una disfunción olfatoria post-viral de tipo neurosensorial, de pronóstico variable. La evidencia acerca de la anosmia en pacientes con COVID-19 es muy limitada, correspondiente a un grado 5 o D del Centre for Evidence-Based Medicine. En acuerdo con las distintas sociedades médicas que han emitido comunicados al respecto, parece razonable aplicar medidas de aislamiento, higiene y distanciamiento social a los pacientes con alteraciones del olfato de reciente aparición como único síntoma, aunque se debería estudiar la utilidad de la realización de pruebas diagnósticas a este tipo de pacientes

There is debate as to whether olfactory dysfunction should be considered a symptom of COVID-19 infection, given the implications for managing thesymptom itself, for diagnostic testing, and for implementing isolation measures. We undertook a systematic literature review of the articles indexed in PubMed on olfactory disorders in viral respiratory tract conditions, with special emphasis on COVID-19. The main objective was to find evidence of clinical interest to support the relationship between anosmia and COVID-19. Olfactory disorders in upper respiratory tract infections are frequent, most caused by obstruction due to oedema of the nasal mucosa. Occasionally, post-viral sensorineural olfactory dysfunction occurs, with a variable prognosis. The evidence on anosmia in COVID-19 patients is extremely limited, corresponding to a level 5 or D of the Centre for Evidence-Based Medicine. According to the various medical societies that have issued reports on the subject, it seems reasonable to apply isolation, higiene and social distancing measures in patients with recent olfactory disorders as the only symptom, although the usefulness of diagnostic tests for this type of patient should be studied