Adv Exp Med Biol
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The rare disease community suffers from the absence of reliable epidemiological data on the prevalence and incidence of rare diseases in the national and global populations. The rare diseases community includes all of the stakeholders involved in the research and development and dissemination of products and information for the diagnosis, prevention or treatment of rare diseases or conditions. To replace many of the perceived myths with realities, several global efforts are required if we are going to sustain and increase the reported progress with the thousands of rare diseases. ⋯ Providing ready access to the information about rare diseases, patient advocacy groups, research studies and products in research protocols will continue to improve the lives of patients and their families. Many scientists, public and private sector organizations, patient advocacy groups, foundations, and the pharmaceutical, biotechnology, and medical devices industries are committed to translating research discoveries that will be useful in the care of patients with rare diseases over their lifespan. Evidence from well constructed epidemiological studies will provide the evidence that point to the value of additional clinical studies to increase the understanding of rare diseases.
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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.
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Type 1 diabetes mellitus (T1D) is considered a classical autoimmune disease which commonly starts during childhood but may appear later in adulthood in a proportion of 30-40% of affected individuals. Its development is based on a combination of a genetic predisposition and autoimmune processes that result in gradual destruction of the beta-cells of the pancreas and cause absolute insulin deficiency. Evidence for an autoimmune origin of T1D results from measurable islet beta-cell autoantibody directed against various autoantigens such as proinsulin or insulin itself, glutamic acid decarboxylase 65, the islet tyrosine phosphatase IA-2, and the islet-specific glucose-6-phosphatase catalytic subunit-related protein. ⋯ Special emphasis is given to stem cells of embryonic, mesenchymal, and haematopoietic origin, which, besides their use for regenerative purposes, possess potent immunomodulatory functions and thus have the potential to suppress the autoimmune response. At the end of this chapter we will introduce a novel type of in vitro modified monocytes with immunosuppressive and anti-inflammatory properties. These tolerogenic monocytes provide a feasible option to be used as autologous cellular transplants to halt autoimmunity and to protect still viable beta-cells within Langerhans islets.
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The field of histamine research has progressed far from a century ago when the first biological functions of histamine were identified. It is now known that histamine function is mediated by four histamine receptors, which belong to the G-protein-coupled receptor family. While antihistamines that target the first two receptors have enjoyed clinical and commercial success, efforts to find new antihistamines against the histamine H3 and H4 receptors are still in the early stages. Here we will review the therapeutic potential of targeting these new histamine receptors.
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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.