Anesthetic Management of Two Patients With PHARC Syndrome: Case Report.

PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts) is a rare autosomal recessive disease, caused by genetic mutation of the ABHD12 gene. This syndrome is still not well known and can be misdiagnosed, especially in the early stages, as it can be easily confused with other neurodegenerative diseases. We present the first description of the anesthetic management of 2 siblings with PHARC syndrome who underwent unilateral cochlear implantation.

ERS International Congress 2023: highlights from the Respiratory Intensive Care Assembly.

Early career members of Assembly 2 (Respiratory Intensive Care) attended the 2023 European Respiratory Society International Congress in Milan, Italy. The conference covered acute and chronic respiratory failure. Sessions of interest to our assembly members and to those interested in respiratory critical care are summarised in this article and include the latest updates in respiratory intensive care, in particular acute respiratory distress syndrome and mechanical ventilation.

[Diagnosis of hereditary angioedema after thirty years of clinical manifestations].

Introduction: Diagnosis and treatment of hereditary angioedema (HAE) are necessary to improve the quality of life and even the survival of patients.

Case Report: A 52-year-old woman with angioedema for 30 years, which affects the face, tongue, and hands. It is asymmetric, with neither pruritus nor urticaria, without response to antihistamines or corticosteroids, with spontaneous resolution in 48 hours to 72 hours; with a family history of angioedema.

Current Practices in Home Mechanical Ventilation for Chronic Obstructive Pulmonary Disease: A Real-Life Cross-Sectional Multicentric Study.

Purpose: Home mechanical ventilation (HMV) use in chronic obstructive pulmonary disease (COPD) is becoming increasingly widespread. The aim of this study was to provide an accurate description of the current practices and clinical characteristics of COPD patients on HMV in Portugal.

Methods: The study was designed as a cross-sectional, multicenter real-life study of COPD patients established on HMV for at least 30 days.

Diastolic dysfunction for nephrologists: diagnosis at the point of care.

Cardiovascular diseases are important causes of morbidity and mortality in the course of chronic kidney disease (CKD). Diastolic dysfunction (DD) may progress with the clinical manifestation of heart failure, known as heart failure with preserved ejection fraction, a condition that precedes systolic dysfunction. The early identification of DD by echocardiography at the point-of-care before the appearance of symptoms and signs of pulmonary congestion and the implementation of appropriate treatment can improve the prognosis of CKD.

Point-of-care ultrasonography in nephrology: a cross-sectional national survey among Brazilian nephrologists.

Introduction: Point-of-care ultrasonography (US) (POCUS) has been used in several specialties, particularly in medical emergency. Despite the confirmation of its numerous benefits, the use of POCUS is still timid in nephrology. In the present study, we aim to investigate the use of POCUS by Brazilian nephrologists.

Prevalence of canine heartworm (Dirofilaria immitis) disease in dogs of central Portugal.

The aim of the present study was to determine the prevalence and risk factors concerning Dirofilaria immitis infection in dogs from Figueira da Foz, located in the central region of Portugal. In the period between November 2009 and January 2011, 304 blood samples were obtained from dogs over 1 year of age, with no previous history of heartworm prevention or diagnosis. Every blood sample was analyzed using varied laboratory techniques (direct microscopic evaluation of a fresh blood sample, the modified Knott technique, and the ELISA antigen detection test - IDEXX Snapp®).

Canine parvovirus 2c infection in central Portugal.

Canine parvovirus (CPV) has been evolving, generating new genetic and antigenic variants throughout the world. This study was conducted to determine the types of CPV circulating in dogs in Figueira da Foz, Portugal. Thirty fecal samples, collected between 2006 and 2007 from dogs with clinical signs of CPV infection, were tested for CPV by a rapid, in-clinic, enzyme-linked immunosorbent assay (ELISA)/immunomigration test, by conventional real-time polymerase chain reaction (PCR), and by minor-groove binding TaqMan PCR.