Adv Exp Med Biol
-
Triple-A syndrome is characterized by triad of adrenocorticotrophic hormone (ACTH)-resistant adrenal insufficiency, alacrimia and achalasia cardia. It is a rare disease and inherited by autosomal recessive pattern. Allgrove syndrome is characterized by mutation(s) in AAAS gene, located on chromosome 12q13, that codes for ALADIN protein. ⋯ Alacrimia is diagnosed by Schirmer's test while ahalasia cardia and adrenal insufficiency are best diagnosed by esophageal monometry and ACTH stimulated cortisol levels respectively. Alacrimia is treated with artificial tears while achalasia cardia with either pneumatic dilatation or Heller's myotomy. Adrenal insufficiency is treated with glucocorticoid and if necessary mineralocorticoid replacement.
-
The coherence method (COH) has been widely used to study the concordance between continuously measured signals intervening in the assessment of cerebral autoregulation in neonates. Several research groups have applied this method to mean arterial blood pressure (MABP) combined with cerebral signals such as the intravascular oxygenation (HbD), cerebral tissue oxygenation (TOI), and regional oxygen saturation (rSO(2)) measured by near-infrared spectroscopy (NIRS). ⋯ We have made a comparative study of all published results coupled with an optimization of the use of the WAP method within COH. We have also proposed a pre-processing algorithm to remove signal artefacts, and defined a new critical score value (CSV) for COH to distinguish infants with impaired autoregulation from those without.
-
Indocyanine green (ICG) emits near-infrared fluorescence when it is excited by near-infrared light. The near infrared fluorescence of ICG was applied to the imaging of cerebral vessels during neurosurgical operations such as clipping of aneurysms. In this study, ICG angiography was applied to extracranial-intracranial (EC-IC) bypass surgery to evaluate the hemodynamic changes induced by bypass in moyamoya disease (MD) and non-moyamoya ischemic diseases (non-MD). ⋯ Interestingly, the anastomosed STA supplied blood flow to a larger cortical area in MD than non-MD. The bypass supplied greater extent of blood flow to the ischemic brain in MD than in non-MD. This difference might be caused by the fact that the perfusion pressure was lower in MD than in non-MD.
-
This chapter discusses the meaning of evidence-based medicine and where it relates to randomised controlled trials, but also where it does not. The need for good quality evidence is stressed through a discussion of high failure rates in drug development and arguments against access to unlicensed (and largely untested) treatments are set out (despite the good intentions of those who advocate such access to treatments). Good quality, reliable evidence does not always have to come from clinical trials. ⋯ Meta-analyses of individual trials may help to resolve the problem that, in rare diseases, it may be very difficult or impossible to do adequately powered clinical trials - but that does not imply those trials have no value at all. The importance of patients' choices is stressed but the difficulties of making choices and the general poor understanding of risk makes patients very vulnerable to making poor decisions. They need to be adequately guided through the evidence to make proper informed decisions.