Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M).

To elucidate if genetic variants in the bradykinin B2 receptor (B2) gene occur that could affect receptor expression and function, we screened for mutations in the promoter and in the coding region of the human B2 gene. In our initial study we analyzed 92 consecutive, unrelated subjects (including 25 patients with hypertrophic cardiomyopathy, 18 patients with dilated cardiomyopathy (DCM), 25 patients with hypertension, 18 patients with coronary heart disease, and 6 patients with valvular heart disease) using nonradioactive polymerase chain reaction-single-strand conformation polymorphism analysis as mutation screening method. We detected eight as yet unknown polymorphic sites in the promoter region of the B2 gene (-845 C/T, -704 C/T, -649 insG, -640 T/C, -536 C/T, -412 C/G, -143 C/T and -78 C/T) with allele frequencies between 0.

Whole population or high-risk group? Childhood asthma.

Allergen avoidance seems to be a logical way to protect high-risk children from the development of allergic diseases. If we assume that allergic diseases are predictable, we firstly need to define which allergic disease and what age we are discussing. Then the predictive capacity of risk factors, their clinical value and their prevalence in the population has to be considered.

Various immunological phenotypes are associated with increased airway responsiveness.

Background: Bronchial asthma is characterized by a TH2 type immune response, chronic inflammation of the airways and increased airway responsiveness. The relationship between IgE- and inflammatory-dependent mechanisms that contribute to bronchial asthma are not well defined.

Objective: The purpose of this study was to compare and analyse the immune pathways that resulted in development of allergen-induced and/or inflammatory dependent increased airways responsiveness.

Representation of amino acid sequences as two-dimensional point patterns.

An algorithm for the representation of amino acid sequences as two-dimensional point patterns (2-D plot) is described. The algorithm is based on chaos game representation (CGR) for DNA sequences and was extended for amino acid sequences. The 2-D plot depicts the sequentiality of amino acids and the amino acid composition of a protein.

A subset of CD8+ T cells from allergic patients produce IL-4 and stimulate IgE production in vitro.

Background And Objective: A subset of IL-4 producing CD8+ T cells was recently identified in HIV patients. Based on these findings we examined whether IL-4 producing CD8+ T cells would also be present in allergic patients and what would be the functional relevance of this T-cell population.

Methods: We investigated the role of CD8+ T cells in IgE production of allergic diseases by analysing the cytokine profile of individual CD4+ and CD8+ T cells.

Protein kinase C-dependent regulation of the human AT1 promoter in vascular smooth muscle cells.

The expression level of angiotensin II (ANG II) type 1 receptors (AT1) determines the magnitude of ANG II signaling in vascular smooth muscle cells (VSMC). AT1 mRNA expression in cultured bovine VSMC increased twofold after 8 h of protein kinase C (PKC) activation with phorbol 12-myristate 13-acetate (PMA), whereas stimulation with forskolin did not alter the AT1 mRNA level. The expression of AT1 promoter/exon 1 [-513/+92 base pairs (bp)] luciferase constructs transfected into VSMC increased 2.

Dilated cardiomyopathy-associated proteins and their presentation in a WWW-accessible two-dimensional gel protein database.

High resolution two-dimensional electrophoresis (2-DE) and computer-assisted image analysis were used to screen 13 patients suffering from dilated cardiomyopathy (DCM) versus 15 control patients for quantitative and qualitative differences in their myocardial protein expression. Right atrial tissue samples were obtained from end-stage failing explanted hearts and control hearts. Fifty-two spots differed significantly in average intensity between the DCM and the control groups.

Pregnancy and delivery in a patient with mutilating dystrophic epidermolysis bullosa (Hallopeau-Siemens type).

Background: Epidermolysis bullosa dystrophica of the mutilating Hallopeau-Siemens type is a rare inherited skin disease. Those afflicted have blisters and pronounced scarring of skin and mucous membranes after minor trauma. Pregnancies are very rare in affected women.

Antiepileptic drug treatment in pregnancy: drug side effects in the neonate and neurological outcome.

Antiepileptic drugs taken by pregnant epileptic women are known human teratogens. They may also cause pharmacological side effects in the newborn, i.e.

Murine animal models to study the central role of T cells in immediate-type hypersensitivity responses.

The development of allergic sensitization and inflammation is dependent on activation and stimulation of T cells that exhibit pro-allergic functions. A mouse model system was developed to study the role of T cells in allergic sensitization in more detail. Local sensitization of mice stimulates an allergen specific IgE/IgG1 response that is associated with the development of immediate type skin test responses and increased airway responsiveness (AR).

Role and modulation of T-cell cytokines in allergy.

Allergic sensitization and the development of effector functions are controlled by IL-4-secreting and IL-5-secreting type 2 T cells. Recent studies have provided new insights into the events triggering the development of type 1 and type 2 T cells, the discrimination of type 1 and type 2 effector T cells from various T-cell subsets, and the improvement of established and new therapeutic strategies, which are aimed at modulating such T-cell functions in the allergic patient.