Detection of MBL-2 gene expression in intestinal biopsies of celiac patients by in situ reverse transcription polymerase chain reaction.

Celiac disease (CD) is an autoimmune enteropathy triggered by ingestion of gluten in genetically susceptible subjects and represents one of the most frequently occurring, treatable, lifelong autoimmune disorders. Undetected or untreated CD may cause late more severe complications (Farrell and Kelly, 2002). So far, several factors have been identified as possible agents responsible for CD. There is a strong evidence that CD is associated with specific HLA haplotypes (HLADQA1* 0501, DQB1*0201 or DQA1*0301, DQB0302) (Sollid and Thorsby, 1993). Recently it has been demonstrated on Italian patients that polymorphisms of the first exon of MBL2 gene, which encodes for Mannose Binding Protein (MBP), could play a pathophysiological role in celiac disease (Boniotto et al., 2002). MBP is a serum protein involved in the natural or innate immune response. MBP acts as an ante-antibody and can enhance opsonisation, or can activate the classical pathway of the complement on bacteria, viruses and fungi (Sastry and Ezekowitz, 1993)

Моделирование производственных комплексов с применением технологии цифровых двойников

В данной работе представлена разработка цифрового двойника абстрактного производственного комплекса с использованием Factory I/O, реализующего физическую модель, S7-PLCSIM, симулирующий работу программируемого логического контроллера, и Simulink/Stateflow, модель которого воспроизводит независимо от производства последовательность и длительность состояний отдельных операций с целью определения времени изготовления партии деталей.This paper presents the development of a digital twin of an abstract industrial complex using Factory I/O, which implements a physical model, S7-PLCSIM, simulating the operation of a programmable logic controller, and Simulink/Stateflow, a model that reproduces, regardless of production, the sequence and duration of individual operations with determine the time of manufacture of a batch

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

BACKGROUND: IgA nephropathy (IgAN) or Berger's disease, is the most common glomerulonephritis in the world diagnosed in renal biopsied patients. The involvement of genetic factors in the pathogenesis of the IgAN is evidenced by ethnic and geographic variations in prevalence, familial clustering in isolated populations, familial aggregation and by the identification of a genetic linkage to locus IGAN1 mapped on 6q22–23. This study seems to imply a single major locus, but the hypothesis of multiple interacting loci or genetic heterogeneity cannot be ruled out. The organization of a multi-centre Biobank for the collection of biological samples and clinical data from IgAN patients and relatives is an important starting point for the identification of the disease susceptibility genes. DESCRIPTION: The IgAN Consortium organized a Biobank, recruiting IgAN patients and relatives following a common protocol. A website was constructed to allow scientific information to be shared between partners and to divulge obtained data (URL: ). The electronic database, the core of the website includes data concerning the subjects enrolled. A search page gives open access to the database and allows groups of patients to be selected according to their clinical characteristics. DNA samples of IgAN patients and relatives belonging to 72 multiplex extended pedigrees were collected. Moreover, 159 trios (sons/daughters affected and healthy parents), 1068 patients with biopsy-proven IgAN and 1040 healthy subjects were included in the IgAN Consortium Biobank. Some valuable and statistically productive genetic studies have been launched within the 5(th )Framework Programme 1998–2002 of the European project No. QLG1-2000-00464 and preliminary data have been published in "Technology Marketplace" website: . CONCLUSION: The first world IgAN Biobank with a readily accessible database has been constituted. The knowledge gained from the study of Mendelian diseases has shown that the genetic dissection of a complex trait is more powerful when combined linkage-based, association-based, and sequence-based approaches are performed. This Biobank continuously expanded contains a sample size of adequately matched IgAN patients and healthy subjects, extended multiplex pedigrees, parent-child trios, thus permitting the combined genetic approaches with collaborative studies

Rapid method for detection of extra (TA) in the promoter of Bilirubin-UDP-Glucuronosyl transferase 1 gene associated with Gilbert Syndrome

Gilbert syndrome (GS) is an inherited form of chronic mild unconjugated hyperbilirubinemia (1)(2)(3), although many patients do not have a clear family history (4). Hepatic glucuronidation of bilirubin is catalyzed by isoenzyme 1A1 of UDP-glucuronosyl transferase (UGT1A1). The majority of GS subjects were found to be homozygous for an extra TA in the TATA-box in the promoter region of UGT1A1 (5)(6)(7). Transcription of the (TA)7 allele is reduced by at least 70% compared with the wild-type (TA)6 allele. Because bilirubin UGT1A1 is the only enzyme with substantial bilirubin glucuronidating activity in humans (8), the presence of this extra TA in both alleles can explain the impaired conjugation of bilirubin found in Caucasoid GS patients (6)