New Classification Of Disease Research Articles

Niacin Skin Flush Backs—From the Roots of the Test to Nowadays Hope

The niacin skin flush test (NSFT) is a simple method used to assess the content of fatty acids in cell membranes and is a possible indicator of factors hidden behind various outcomes in patients. The purpose of this paper is to determine the potential usefulness of NSFT in mental disorder diagnostics along with the determination of factors that may affect its results. The authors reviewed articles from 1977 onwards, focusing on the history, variety of methodologies, influencing factors, and proposed mechanisms underlying its performance. Research indicated that NSFT could be applicable in early intervention, staging in psychiatry, and the search for new therapeutic methods and drugs based on the mechanisms of NSFT action. The NSFT can contribute to defining an individualized diet for patients and prevent the development of damaging disease effects at an early stage. There is promising evidence for supplementation with polyunsaturated fatty acids, which have a beneficial influence on the metabolic profile and are effective even in the subclinical phase of the disease. NSFT can contribute to the new classification of diseases and a better understanding of certain mental disorders' pathophysiology. However, there is a need to establish a validated method for assessing the NSFT results.

Gender incongruence in the latest International Classification of Diseases ICD-11

Aim
 The aim of this article is to discuss the ICD-11 with respect to the changes introduced in the classification of diagnoses related to gender identity.
 Method
 The text analyses and discusses briefly the changes concerning gender identity in the new classification of diseases with respect to the content and the language as well as to their practical implications and social dimension. 
 Results
 The decision by the World Health Organisation to remove transsexualism and create a new category under the name of gender incongruence in the section other than mental illnesses and disorders had been long awaited most of all by those specialising in mental and sexual health but also by patients experiencing their gender in a way different than that assigned to them at birth.

Épidémiologie de l’allergie aux venins d’hyménoptères

The prevalence of anaphylactic reactions to hymenoptera stings is estimated to be between 0.3 and 7.5%. Although allergists are mainly interested in generalized reactions, the development of knowledge about widespread local reactions may change their practice. Risk factors such as age, the existence of underlying pathologies, particularly cardiovascular, mastocytosis, and the severity of the previous reaction are well documented. On the other hand, the traditionally accepted aggravating role of beta-blockers and ACE inhibitors is questioned. Changes in climate and world trade influence the distribution of insects on the planet, and explain the northward migration of the polistes wasp, and the appearance in our regions of the “Asian hornet”. The new classification of diseases (ICD 11) should allow us to better understand the reactions to these insects.

A Systems Approach to Refine Disease Taxonomy by Integrating Phenotypic and Molecular Networks

The International Classification of Diseases (ICD) relies on clinical features and lags behind the current understanding of the molecular specificity of disease pathobiology, necessitating approaches that incorporate growing biomedical data for classifying diseases to meet the needs of precision medicine. Our analysis revealed that the heterogeneous molecular diversity of disease chapters and the blurred boundary between disease categories in ICD should be further investigated. Here, we propose a new classification of diseases (NCD) by developing an algorithm that predicts the additional categories of a disease by integrating multiple networks consisting of disease phenotypes and their molecular profiles. With statistical validations from phenotype-genotype associations and interactome networks, we demonstrate that NCD improves disease specificity owing to its overlapping categories and polyhierarchical structure. Furthermore, NCD captures the molecular diversity of diseases and defines clearer boundaries in terms of both phenotypic similarity and molecular associations, establishing a rational strategy to reform disease taxonomy.

One Hundred Years of Migraine Research: Major Clinical and Scientific Observations From 1910 to 2010

Pain research, and headache research in particular, during the 20th century, has generated an enormous volume of literature promulgating theories, questions, and temporary answers. This narrative review describes the most important events in the history of migraine research between 1910 and 2010. Based on the standard textbooks of headache: Wolff's Headache (1948 and 1963) and The Headaches (1993, 2000, and 2006) topics were selected for a historical review. Most notably these included: isolation and clinical introduction of ergotamine (1918); further establishment of vasodilation in migraine and the constrictive action of ergotamine (1938); identification of pain-sensitive structures in the head (1941); Lashley's description of spreading scotoma (1941); cortical spreading depression (CSD) of Leão (1944); serotonin and the introduction of methysergide (1959); spreading oligemia in migraine with aura (1981); oligemia in the wake of CSD in rats (1982); neurogenic inflammation theory of migraine (1987); a new headache classification (1988); the discovery of sumatriptan (1988); migraine and calcitonin gene-related peptide (1990); the brainstem "migraine generator" and PET studies (1995); migraine as a channelopathy, including research from the genetic perspective (1996); and finally, meningeal sensitization, central sensitization, and allodynia (1996). Pathophysiological ideas have evolved within a limited number of paradigms, notably the vascular, neurogenic, neurotransmitter, and genetic/molecular biological paradigm. The application of various new technologies played an important role within these paradigms, in particular neurosurgical techniques, EEG, methods to measure cerebral blood flow, PET imaging, clinical epidemiological, genetic, and molecular biological methods, the latter putting migraine (at least hemiplegic migraine) within a completely new classification of diseases.

A Unique Activating Mutation in JAK2 (V617F) Is at the Origin of Polycythemia Vera and Allows a New Classification of Myeloproliferative Diseases

Myeloproliferative disorders (MPDs) are heterogeneous diseases that occur at the level of a multipotent hematopoietic stem cell. They are characterized by increased blood cell production related to cytokine hypersensitivity and virtually normal cell maturation. The molecular pathogenesis of the MPDs has been poorly understood, except for chronic myeloid leukemia (CML), where the Bcr-Abl fusion protein exhibits constitutive kinase activity. Since some rare MPDs are also related to a dysregulated kinase activity, a similar mechanism was thought to be likely responsible for the more frequent MPDs. We investigated the mechanisms of endogenous erythroid colony formation (EEC) by polycythemia vera (PV) erythroid progenitor cells and found that EEC formation was abolished by a pharmacological inhibitor of JAK2 as well as an siRNA against JAK2. JAK2 sequencing revealed a unique mutation in the JH2 domain leading to a V617F substitution in more than 80% of the PV samples. This mutation in the pseudokinase autoinhibitory domain results in constitutive kinase activity and induces cytokine hypersensitivity or independence of factor-dependent cell lines. Retroviral transduction of the mutant JAK2 into murine HSC leads to the development of an MPD with polycythemia. The same mutation was found in about 50% of patients with idiopathic myelofibrosis (IMF) and 30% of patients with essential thrombocythemia (ET). Using different approaches, four other teams have obtained similar results. The identification of the JAK2 mutation represents a major advance in our understanding of the molecular pathogenesis of MPDs that will likely permit a new classification of these diseases and the development of novel therapeutic approaches.

Detections of matrix metalloproteinases activities and localization by film in situ zymography (FIZ)

Extracellular proteolysis is an essential process for cell migration in several diseases such as tumor invasion, metastasis, and angiogenesis. In an invasive process, matrix metalloproteinases (MMPs) play a central role as degradation enzymes of extracellular matrix. Immunohistochemical staining (IHC) or ELISA methods have been carried out for the detection of tissue MMP proteins, and MMP activities have been mainly measured by gelatin zymography. Recently, film in situ zymography (FIZ) was developed for the regional detection of tissue MMP activities. FIZ uses a polyester film coated with gelatin uniformly and thinly. Frozen sections are incubated on the film at 37 degrees for optimal time. After gelatin staining with Biebrich Scarlet, the unstained area corresponds to MMP activities. The regional detection of tissue MMP activities by FIZ is simple and quantitative, and it is a useful tool for the studies of many diseases involving MMP. The detection of precise localization of MMP activity in tissues by FIZ may contribute the new classification of diseases involving MMP.

The diagnosis of inborn errors of metabolism by examination of the genotype

In the Croonian Lectures of 1908 [1], Archibald Garrod described the work that had led'him to conclude that alkaptonuria, albinism, pentosuria and: cystinuria were inherited conditions, that their patterns of inheritance ~,,.~:'.d be explained by Mendel's laws, that each was caused by a reduction in, or complete absence of, the activity of an enzyme that governs a single metabolic step and that these characteristics made them examples of a new classification of disease that he named the 'inborn errors of metabolism'. Garrod's hypothesis that enzyme activity, or, more generally speaking, normal protein function, is genetically determined, provided the intellectual foundation for the studies of Beadle and Tatum which, in 1941, culminated with their 'one gene one enzyme' hypothesis [2]. For example, in his review of 1945 [3] Beadle refers to Garrod's work directly when he states that his own work on tryptophan metabolism in Neurospora was '... almost exactly analogous to the classical experiments on alkaptonuria in man...'. Beadle's work, in turn, came at the beginning of, and provided the foundation for, the investigations that over the past 50 years, have been aimed at elucidating the exact nature of the biochemical processes that ,govern the relationship between the nucleic acids of genetic material and proteins, the rema~'k~ble success of which has provided results that ~tot only support the one gene one enzyme hyl~othesis, but also