Purpose of review We review current thinking on the aetiology of multiple sclerosis, how genetic susceptibility interacts with environmental risk factors at the population level, multiple sclerosis-associated risk factors and contemporary causation theory. Recent findings Two large genomic studies have confirmed the unambiguous associations with the DRB1 and DQB alleles of the human leucocyte a...

The mammalian Major Histocompatibility Complex (MHC) region contains several gene families characterized by highly polymorphic loci with extensive nucleotide diversity, copy number variation of paralogous genes, and long repetitive sequences. This structural complexity has made it difficult to construct a reliable reference sequence of the horse MHC region. In this study, we used long-read sing...

This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in ...

Cereal Chem. 72(5):475-479 Two different gliadin molecules (designated oc-gliadin and ot/P-gliadin) were synthesized as 52 and 58 ten amino acid (aa) long overlapping peptides for the determination of their B-cell epitopes. Monoclonal antibodies and human serum pools revealed two epitopes common for both gliadins (peptide 14 aa:s 66-75 and peptides 340x aa:s 166-175, 36Wx/p aa:s 176-185) and tw...

Abstract Introduction Narcolepsy is a disorder of sleep characterized by pathologic daytime sleepiness classically divided into two major subtypes – those with or without cataplexy. The underlying pathophysiologic mechanism thought to be related hypocretin/orexin; pathologically low levels hypocretin characterize narcolepsy We present complex case weakness in patient evaluated for narcolepsy. R...

BACKGROUND Several studies have demonstrated a fundamental role for the histocompatibility antigens (ie, human leukocyte antigens or HLA) in the susceptibility of, or protection to, type 1 diabetes mellitus (T1DM). However, this has not been adequately studied in racially admixtured populations. OBJECTIVES To assess the frequency of HLA class II (DQA1, DQB1 and DRB1) associated to susceptibil...

Epidermodysplasia verruciformis (EV) is triggered by a variety of mechanisms that at least partly include genetic background. We present a Brazilian man with a 30-year history of flat, wart-like lesions with clinical, histopathological, and evolutive aspects consistent with papillomavirus (HPV)-associated EV. Histological analysis of the wart lesions showed epidermis with hyperkeratosis, regula...

Celiac disease (CD) is a chronic inflammatory disease in the small intestine triggered by gluten uptake that occurs in genetically susceptible individuals. HLA-DQ2 protein encoded by HLA-DQA1*05 and DQB1*02 alleles is found in 90-95% of CD patients. All of the remaining patients carry HLA-DQ8 protein encoded by HLA-DQA1*03 and DQB1*03:02 alleles. Specific HLA-DQ genotypes define different risk ...