Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases.

Eur J Anaesthesiol

From the Department of Anaesthesiology, Pain and Palliative Care Medicine (SJMV, MPH), the Department of Paediatric Endocrinology (HLC) and Department of Oral and Maxillofacial Surgery (WAB), Radboud University Medical Centre, Nijmegen, The Netherlands.

Published: November 2016

Download full-text PDF

Source
http://dx.doi.org/10.1097/EJA.0000000000000508DOI Listing

Publication Analysis

Top Keywords

anaesthesia orphan
4
orphan disease
4
disease hutchinson-gilford
4
hutchinson-gilford progeria
4
progeria syndrome
4
syndrome case
4
case report
4
report summary
4
summary previous
4
previous cases
4

Similar Publications

Background: In the PROTECTION trial, intravenous amino acids (AA) decreased the occurrence of acute kidney injury (AKI) in cardiac surgery patients with cardiopulmonary bypass (CPB). Recruitment of renal functional reserve may be responsible for such protection. However, patients with chronic kidney disease (CKD) have diminished renal functional reserve, and AA may be less protective in such patients.

View Article and Find Full Text PDF

Background: Pain is the leading cause of disability and reduced quality of life worldwide. Despite the increasing burden for patients and healthcare systems, pain research remains underfunded and under focused. Having stakeholders identify and prioritize areas that need urgent attention in the field will help focus funding topics, reduce 'research waste', improve the effectiveness of pain research and therapy and promote the uptake of research evidence.

View Article and Find Full Text PDF

Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patients enrolled in specialized rare disease research studies. The data, consented for broad research use, are harmonized and analyzed with CRDC-supported variant interpretation tools.

View Article and Find Full Text PDF

Mortality in septic patients treated with short-acting betablockers: a comprehensive meta-analysis of randomized controlled trials.

Crit Care

November 2024

Department of Anaesthesiology, Intensive Care, Emergency Medicine, Transfusion Medicine and Pain Therapy, University Hospital of Bielefeld, Campus Bielefeld-Bethel, University of Bielefeld, Burgsteig 13, Haus Gilead I, 33617, Bielefeld, Germany.

Background: Treatment with short-acting betablockers in septic patients remains controversial. Two recent large multicenter trials have provided additional evidence on this therapeutic approach. We thus performed a meta-analysis, including the most recent data, to evaluate the potential impacts of treatment with short-acting betablockers on mortality in adult septic patients.

View Article and Find Full Text PDF
Article Synopsis
  • The first Clinical and Scientific Conference on ADSS1 myopathy took place on June 3, 2024, at NIH in Maryland, focusing on this rare inherited neuromuscular disease.
  • The conference highlighted geographical patient clusters from South Korea, Japan, India, and the USA, along with research on pre-clinical models to better understand the disease.
  • Experts identified biochemical pathways for potential therapies and created an ADSS1 myopathy consortium to guide new treatment development.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!