scholarly journals The Role of Molecular Typing for DQ2 and DQ8 Alleles Using Polymerase Chain Reaction Amplification in Children with Autoimmune Conditions

2020 ◽  
Vol 71 (6) ◽  
pp. 212-221
Author(s):  
Oana Belei ◽  
Andreea Dobrescu ◽  
Emil Radu Iacob ◽  
Daniela Iacob ◽  
Elena Amaricai ◽  
...  
Keyword(s):  
Polymerase Chain Reaction Amplification ◽  
Pediatric Population ◽  
Human Leukocyte ◽  
Intestinal Biopsy ◽  
Leukocyte Antigen ◽  
High Prevalence ◽  
Autoimmune Conditions ◽  
Reaction Amplification ◽  
Serologic Screening

The aim was to determine the prevalence of celiac disease (CD) in a pediatric population with juvenile idiopathic arthritis (JIA) and autoimmune hepatitis (AIH) compared to controls and to evaluate the clinical forms and human leukocyte antigen (HLA) alelles. Between September 2009-November 2019, 74 pediatric patients with JIA (1), 62 AIH (2) and 60 controls were assessed for CD. All children with one or more positive CD antibodies were submitted to gastrointestinal endoscopy with intestinal biopsy. All patients underwent HLA molecular assessment for DQ2/DQ8 alleles. Celiac prevalence after screening was 6.7% in the first group, 6.4% in the second group and 0% among controls. The results didn�t reveal significant differences regarding the CD prevalence among patients with JIA and AIH (p = 0.94). The majority of cases associated the silent form of disease (77.7). DQ2/DQ8 haplotypes were found in all CD cases. Of 69 children with JIA and no CD, three (4.3%) had DQ2 haplotype. Of 58 patients with AIH and no CD, 37 children (63.8%) presented DQ2/DQ8. According to the high prevalence obtained in this study, JIA and AIH are good parameters for stratification of asymptomatic cases in order to perform CD serologic screening. The absence of DQ2 or DQ8 haplotypes will make CD diagnosis unlikely and no further tests will be required.

scholarly journals Recurrent Focal Segmental Glomerulosclerosis in Renal Allograft Recipients: Role of Human Leukocyte Antigen Mismatching and Other Clinical Variables

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Shimi Sharief ◽  
Shefali Mahesh ◽  
Marcela Del Rio ◽  
Vivian Telis ◽  
Robert P. Woroniecki
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Pediatric Population ◽  
Surrogate Marker ◽  
Human Leukocyte ◽  
Leukocyte Antigen ◽  
Clinical Variables ◽  
Segmental Glomerulosclerosis ◽  
Hla Compatibility

Recurrence of focal segmental glomerulosclerosis (FSGS) after renal transplantation impacts long-term graft survival and limits access to transplantation. We hypothesized that HLA donor/recipient matching could be used as a surrogate marker of recurrence. In a retrospective study of 42 pediatric and 77 adult subjects with primary FSGS, transplanted from 1990 to 2007 at a single center, we analyzed the degree of donor/recipient HLA compatibility and other clinical variables associated with FSGS recurrence. There were total of 131 allografts for primary FSGS (11 subjects were transplanted twice, and 1 had a third allograft) with 20 cases of FSGS recurrence (17 children) in the primary allograft, and two children who had FSGS recurrence in the second allograft. Fifty-two subjects (40%) were African American, and 66 (50%) Caucasians. Recurrent FSGS and controls were not different for age at transplant, gender, donor source, acute/chronic rejection episodes, and HLA matches. Recurrent FSGS was not associated with HLA mismatches; power equals 83%. Immunosuppressive regimen had no effect on recurrence of FSGS, . Recurrent FSGS is not associated with HLA mismatching, acute cellular or vascular rejection, and occurs primarily in the pediatric population.

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.

Role of rs1343151 IL23R and rs3790567 IL12RB2 Polymorphisms in Biopsy-proven Giant Cell Arteritis

2011 ◽  
Vol 38 (5) ◽  
pp. 889-892 ◽  
Author(s):  
LUIS RODRÍGUEZ-RODRÍGUEZ ◽  
FRANCISCO D. CARMONA ◽  
SANTOS CASTAÑEDA ◽  
JOSÉ A. MIRANDA-FILLOY ◽  
INMACULADA C. MORADO ◽  
...  
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Polymerase Chain Reaction Amplification ◽  
Phenotypic Expression ◽  
Minor Allele ◽  
Potential Association ◽  
Ischemic Complications ◽  
Reaction Amplification ◽  
Polymerase Chain

Objective.To assess the potential association between the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms and giant cell arteritis (GCA). We also studied whether these polymorphisms might influence the phenotypic expression of GCA.Methods.In total, 357 Spanish patients with biopsy-proven GCA and 574 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the rs1343151 IL23R and the rs3790567 IL12RB2 polymorphisms using a predesigned TaqMan allele discrimination assay and by polymerase chain reaction amplification.Results.Regarding the rs1343151 IL23R polymorphism, no significant differences in the genotype or allele frequencies between GCA patients and healthy controls were observed. The frequency of the minor allele A of the rs3790567 IL12RB2 variant was increased in GCA patients compared with controls (30.1% vs 25.7%, respectively; p = 0.039, OR 1.25, 95% CI 1.01–1.54). An increased frequency of subjects carrying the minor allele A (GA+AA genotypes) of the rs3790567 IL12RB2 polymorphism was found among GCA patients compared with controls (52.8% vs 44.4%; p = 0.013, OR 1.40, 95% CI 1.06–1.85). Although a higher frequency of the combination of minor alleles (A-A) in the subgroup of patients with visual ischemic complications compared with the combination of both major alleles (G-G; p = 0.029) or with the other allelic combinations (p = 0.035) was found, logistic regression analysis showed that this association was no longer significant after adjustment for potential confounding factors (A-A vs G-G: OR 2.10, 95% CI 0.88–5.04, p = 0.096).Conclusion.Our results support a potential influence of the rs3790567 IL12RB2 polymorphism in the pathogenesis of GCA.

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.

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