Metabolic network failures in Alzheimer's disease: A biochemical road map

Introduction

The Alzheimer's Disease Research Summits of 2012 and 2015 incorporated experts from academia, industry, and nonprofit organizations to develop new research directions to transform our understanding of Alzheimer's disease (AD) and propel the development of critically needed therapies. In response to their recommendations, big data at multiple levels are being generated and integrated to study network failures in disease. We used metabolomics as a global biochemical approach to identify peripheral metabolic changes in AD patients and correlate them to cerebrospinal fluid pathology markers, imaging features, and cognitive performance.

Hereditary angioedema: first report of the Brazilian registry and challenges

Background Hereditary Angio‐oedema (HAE) is a serious medical condition caused by a rare autosomal dominant genetic disorder, in which C1 inhibitor (C1‐INH) function is reduced. There is no organized information on the HAE patient population in Brazil. Objective The Brazilian Registry was established to disseminate diagnostic access, and to better understand the main features of the disease in our country and its clinical impact. Methods A questionnaire was prepared and sent to specialists. The completed questionnaires were forwarded to the coordinating site and then entered into the Registry. Samples from patients with an unconfirmed diagnosis were tested for C1 inhibitor and C4 levels. Results From 2006 to 2010, 210 patients (133 females; mean age, 30 ±17 years) were included. The median age of onset of symptoms and age at diagnosis were 6.5 and 21 years, respectively; 80.9% of the patients had subcutaneous oedema, 54% gastrointestinal and 35.7% respiratory symptoms (21% had laryngeal oedema). Laparotomy due to the disease was performed in 6.2% of the patients. The majority of patients had Type I HAE of moderate severity. Twenty‐seven per cent did not receive treatment; 53% were treated with danazol alone. Conclusion A paucity of patients with Type II HAE and a high frequency of laparotomy were observed, highlighting the need for better diagnosis in Brazil. HAE related educational activities, improved diagnosis and access to available therapy are needed in Brazil.     

Change in velopharyngeal valving after speech therapy in cleft palate patients. A videonasopharyngoscopic and multi-view videofluoroscopic study.

Thirty-one cleft palate patients with velopharyngeal insufficiency and compensatory articulation in association with hypernasality after palate closure were studied. Videonasopharyngoscopy and multi-view videofluoroscopy were performed to all patients before and after speech therapy for correcting compensatory articulation. The ratios of movement of velopharyngeal structures were significantly increased after compensatory articulation had been corrected. Furthermore, the size of the gap at the velopharyngeal sphincter during closure was significantly reduced. The results in this study support the statement that articulation disorders in association with hypernasality in cleft palate patients should be corrected prior to the implementation of surgery for velopharyngeal insufficiency after palate closure.     

Zinc and Vitamin A in Liver of Foetuses and Infants

ABSTRACT. The association of zinc and vitamin A levels was studied in liver of foetuses and infants which were stillborn or died of various causes between the age of 26 weeks of gestation up to 16 weeks post-partum. No correlation between zinc and vitamin A was observed ( r =0.07). Although smaller infants had more hepatic vitamin A than larger infants no significant difference was observed between these groups for liver zinc values.     

A telemedicine system to support a new model for care of chronically ill patients

We have developed a new model for the care of chronically ill patients, based on home care supported by remote monitoring technology and telemedicine. The variables monitored included non-invasive blood pressure, blood oxygen saturation, threelead electrocardiogram, spirometry (including flow-volume curve) and respiratory rate. The telemedicine system consisted of a home-based patient unit and a management centre that received information from the home units. The chronic care management centre was installed in two hospitals, in Spain (Barcelona) and Belgium (Leuven). We expect this to result in significant cost-savings and a better quality of care.