scholarly journals Exploring RNAs Interactions and Polymorphisms in the Pathophysiology of Pemphigus: A Review

2021 ◽  
Vol 2 (1) ◽  
pp. 30-39
Author(s):  
Ali Bahrami ◽  
Mohammad Taheri ◽  
Parisa Habibi ◽  
Meysam Soleimani ◽  
Fatemeh Nouri
Keyword(s):  
Human Leukocyte ◽  
Tissue Type ◽  
Diagnostic Biomarkers ◽  
Leukocyte Antigen ◽  
Clinical Assessments ◽  
Desmosomal Cadherins ◽  
Comprehensive Search ◽  
Non Coding Rnas ◽  
Autoimmune Blistering Diseases

Background: Pemphigus consists of a group of rare autoimmune blistering diseases involving the skin and mucous membranes. Pemphigus pathophysiology is mediated by autoantibodies against two desmosomal cadherins, namely, desmoglein (Dsg) 1 and (Dsg) 3 that are present in the skin and mucosal membranes. The involvement of coding and non-coding RNAs in the pathophysiology of pemphigus has been studied in the literature. MicroRNAs are small RNAs that could also be used as diagnostic biomarkers for some autoimmune diseases. The aim of this research was to explore the potential of this specification of some RNAs to be used as biomarkers for diagnosing pemphigus or its severity. This review discussed RNA expressions in patients with pemphigus. Methods: A comprehensive search was performed on published studies from 1990 to May 2020 using different search engines including PubMed, Scopus, and Web of Science. Results: In general, 335 articles were obtained according to search keywords. Then, 41 relevant studies were selected based on the inclusion and exclusion criteria. MiR-338-3p, miR-424-5p, and miR-584-5p were among the miRNAs that were reported to be increased in pemphigus. The C3 mRNA, mRNA of CD36, mRNA of CD163, mRNA of urokinase plasminogen activator (PA), IL23R mRNA, RORγt mRNA, and human leukocyte antigen G1 (HLA-G1) mRNA were coding RNAs that increased in pemphigus in addition to the activity of the mRNA of tissue-type PA while HLA-G2 mRNA decreased in pemphigus. Conclusion: Overall, this study investigated the role of Mir-338-3p, miR-424-5p, MiR-127, miR-584-5p, and some mRNAs in pemphigus, and it was revealed that some RNAs may be impressive on pemphigus. More studies and clinical assessments need more information about the role of RNAs on pemphigus to obtain a better view of their mechanisms and use them as biomarkers for earlier diagnosis or probable treatment.

scholarly journals Transplantation for bone marrow failure: current issues

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 90-98 ◽  
Author(s):  
Régis Peffault de Latour
Keyword(s):  
Bone Marrow Failure ◽  
Clonal Evolution ◽  
Human Leukocyte ◽  
Unrelated Donor ◽  
Hematopoietic Stem ◽  
Leukocyte Antigen ◽  
Sibling Donor ◽  
Alternative Donor

Abstract The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)–identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia. Currently, HSCT aims are not only to cure patients but also to avoid long-term complications, notably chronic graft-versus-host disease (GVHD), essential for a good quality of life long term. This paper summarizes recent advances in HSCT for idiopathic and inherited AA disorders. The effect of age on current transplantation outcomes, the role of transplantation in paroxysmal nocturnal hemoglobinuria, and the prevention of GVHD are also discussed. Emerging strategies regarding the role of up-front unrelated donor and alternative donor HSCT in idiopathic AA, along with advances in the treatment of clonal evolution in Fanconi anemia, are also examined.

Narcolepsy: Differential Diagnosis or Etiology in Some Cases of Bipolar Disorder and Schizophrenia?

CNS Spectrums ◽  
2003 ◽  
Vol 8 (2) ◽  
pp. 120-126 ◽  
Author(s):  
Alan B. Douglass
Keyword(s):  
Bipolar Disorder ◽  
Differential Diagnosis ◽  
Psychiatric Patients ◽  
Human Leukocyte ◽  
Sleep Paralysis ◽  
Leukocyte Antigen ◽  
Psychotic Features ◽  
Hypnagogic Hallucinations ◽  
Rule Out

AbstractDoes narcolepsy, a neurological disease, need to be considered when diagnosing major mental illness? Clinicians have reported cases of narcolepsy with prominent hypnagogic hallucinations that were mistakenly diagnosed as schizophrenia. In some bipolar disorder patients with narcolepsy, the HH resulted in their receiving a more severe diagnosis (ie, bipolar disorder with psychotic features or schizoaffective disorder). The role of narcolepsy in psychiatric patients has remained obscure and problematic, and it may be more prevalent than commonly believed. Classical narcolepsy patients display the clinical “tetrad”—cataplexy, hypnagogic hallucinations, daytime sleep attacks, and sleep paralysis. Over 85% also display the human leukocyte antigen marker DQB10602 (subset of DQ6). Since 1998, discoveries in neuroanatomy and neurophysiology have greatly advanced the understanding of narcolepsy, which involves a nearly total loss of the recently discovered orexin/hypocretin (hypocretin) neurons of the hypothalamus, likely by an autoimmune mechanism. Hypocretin neurons normally supply excitatory signals to brainstem nuclei producing norepinephrine, serotonin, histamine, and dopamine, with resultant suppression of sleep. They also project to basal forebrain areas and cortex. A literature review regarding the differential diagnosis of narcolepsy, affective disorder, and schizophrenia is presented. Furthermore, it is now possible to rule out classical narcolepsy in difficult psychiatric cases. Surprisingly, psychotic patients with narcolepsy will likely require stimulants to fully recover. Many conventional antipsychotic drugs would worsen their symptoms and make them appear to become a “chronic psychotic,” while in fact they can now be properly diagnosed and treated.

scholarly journals Multiple sclerosis and human leukocyte antigen genotypes: Focus on the Middle East and North Africa region

2020 ◽  
Vol 6 (1) ◽  
pp. 205521731988177
Author(s):  
Zhila Maghbooli ◽  
Mohammad Ali Sahraian ◽  
Abdorreza Naser Moghadasi
Keyword(s):  
Multiple Sclerosis ◽  
Middle East ◽  
Human Leukocyte Antigen ◽  
North Africa ◽  
Human Leukocyte ◽  
Genetic Studies ◽  
Leukocyte Antigen ◽  
Genetic Components ◽  
Control Designs

Recent reports have demonstrated that the prevalence of multiple sclerosis (MS) is increasing in the Middle East and North Africa region. There is also emerging evidence regarding the genetic components of MS risk. This review provides an overview of the role of genetic factors in MS susceptibility by examining human leukocyte antigen loci in patients within the Middle East and North Africa region. Most of the genetic studies conducted in the Middle East and North Africa region have been based on case–control designs, which cannot confirm direct causality of genetic variants on MS susceptibility. Moreover, there are very limited and inconsistent studies on human leukocyte antigen class I and II (DQA and DQB) in MS patients of the Middle East and North Africa region. To identify common risk haplotypes in the Middle East and North Africa region or its sub-populations, further longitudinal studies will be required.

Imaging to Differentiate the Various Forms of Seronegative Arthritis

2018 ◽  
Vol 22 (02) ◽  
pp. 189-196
Author(s):  
Kay-Geert Hermann ◽  
Anna Zejden ◽  
Iwona Sudoł-Szopińska ◽  
Iris Eshed
Keyword(s):  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Important Diagnostic Tool ◽  
Inflammatory Bowel ◽  
Diagnostic Work ◽  
Factor Α ◽  
Work Up ◽  
Necrosis Factor

AbstractSpondyloarthritis (SpA) is a group of diseases characterized by back pain, spinal inflammation, human leukocyte antigen-B27 positivity, and peripheral findings such as dactylitis, enthesitis, and uveitis. It includes ankylosing spondylitis, psoriatic arthritis, reactive arthritis, arthritis associated with inflammatory bowel disease, and undifferentiated SpA. The role of imaging in the diagnosis, management, and follow-up of patients with SpA has become dramatically more important with the introduction of new therapies such as tumor necrosis factor-α inhibitors. Although in many instances differentiating between the SpA entities is straightforward based on the clinical presentation, often such differentiation remains challenging, and categorization of an individual patient into a subset of SpA can be difficult. Imaging, mainly radiography and magnetic resonance imaging, serves as an important diagnostic tool. Diseases in the spondyloarthritis complex share common presentation but at the same time may have distinct radiographic phenotypes. We present these common and distinct imaging manifestations that may potentially help distinguish between the entities in the diagnostic work-up.

scholarly journals An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts

2020 ◽  
Vol 105 (9) ◽  
pp. e3277-e3284 ◽  
Author(s):  
Laura Claire Lane ◽  
Aleksander Kuś ◽  
Tomasz Bednarczuk ◽  
Artur Bossowski ◽  
Jacek Daroszewski ◽  
...  
Keyword(s):  
Age Of Onset ◽  
Meta Analysis ◽  
Human Leukocyte ◽  
Graves Disease ◽  
Ribonucleic Acids ◽  
Young Onset ◽  
Leukocyte Antigen ◽  
Genotype Frequencies ◽  
The Uk

Abstract Context The genetic background of young-onset Graves disease (GD) remains largely unknown. An intronic variant in human leukocyte antigen (HLA) complex P5 (HCP5) has previously been associated with GD susceptibility and age of onset in a cohort of Polish patients. Objective We aimed to investigate the association of the HCP5 variant rs3094228 with GD susceptibility and age of onset in a UK cohort and conduct a meta-analysis of UK and Polish data. Design and Participants rs3094228 was genotyped in 469 UK patients with GD using Taqman chemistry. Genotype frequencies were compared with genotypic data available from the Wellcome Trust case-control consortium using logistic regression analysis. To determine whether rs3094228 is independently associated with age of GD onset, the HLA DRB1*0301 tagging variant, rs535777, was also genotyped. Results The C allele of rs3094228 was overrepresented in the UK GD cohort compared with controls (P allele=5.08 × 10–9, odds ratio 1.76; [95% confidence interval, 1.46-2.13]). This association was more marked in young-onset GD (<30 years) (P allele=1.70 × 10–10 vs P allele=0.0008). The meta-analysis of UK and Polish data supported the association of the C allele with GD susceptibility (P allele=1.79 × 10–5) and age of onset (P allele=5.63 × 10–8). Haplotype analysis demonstrated that rs3094228 is associated with age of GD onset (P = 2.39 × 10-6) independent of linkage disequilibrium with HLA DRB1*0301. Conclusion The rs3094228 HCP5 polymorphism is independently associated with GD susceptibility and age of onset in a UK GD cohort. Our findings indicate a potential role of long noncoding ribonucleic acids, including HCP5, in GD pathogenesis, particularly in the younger population.

scholarly journals Role of a Novel Human Leukocyte Antigen-DQA1*01:02;DRB1*15:01 Mixed Isotype Heterodimer in the Pathogenesis of “Humanized” Multiple Sclerosis-like Disease

2015 ◽  
Vol 290 (24) ◽  
pp. 15260-15278 ◽  
Author(s):  
Nathali Kaushansky ◽  
Miriam Eisenstein ◽  
Sigalit Boura-Halfon ◽  
Bjarke Endel Hansen ◽  
Claus Henrik Nielsen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Leukocyte Antigen
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