First genome-wide association study of esophageal atresia identifies three genetic risk loci at , //, and .

Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci.

Frequency and profile of Parkinson's disease prodromi in patients with malignant melanoma.

Objective: The results of register studies suggest an association between Parkinson's disease (PD) and melanoma. We studied the frequency and profile of early markers of PD in patients with malignant melanoma.

Methods: 100 participants were enrolled in a prospective observational study, of whom 65 had a history of high-risk cutaneous (n=53) or uveal (n=12) melanoma (31 women; age, 61.

Rice-induced anaphylaxis: IgE-mediated allergy against a 56-kDa glycoprotein.

Background: Although rice (Oryza sativa) is one of the most common cereals produced and consumed around the world, there have been only a few reports on immediate hypersensitivity reactions after ingestion of rice. Few clinical studies on rice allergy in Asia have been reported concerning rhinitis, asthma and atopic dermatitis. In this case study, we identify allergens presumably responsible for anaphylaxis after ingestion of rice in a German patient.

Wine allergy in a wine-growing district: tolerance induction in a patient with allergy to grape lipid-transfer protein.

Background: : An IgE-mediated allergy against a lipid-transfer protein of grapes was the cause of repeated severe anaphylaxis in a patient after consumption of grapes, wine, and raisins.

Objective: : Although the patient was aware of her grape allergy, avoidance proved difficult and accidental anaphylaxis occurred. Furthermore, wine allergy in a wine-growing district means a non-negligible restriction of quality of life.

Chromated metal products may be hazardous to patients with chromate allergy.

Background: Hidden allergen exposure may contribute to persistence and relapse of chromate dermatitis. According to case reports, chromated metal products, such as screws, fittings, etc., may be relevant allergen sources for patients sensitized to chromate.

Anaphylaxis to iodinated contrast material: nonallergic hypersensitivity or IgE-mediated allergy?

Objective: Contrast material is generally well tolerated although approximately 1% of patients who receive low-osmolar nonionic contrast material will develop anaphylaxis symptoms. Because most anaphylactic reactions are mild and nonallergic, clinically mimicking immunoglobulin E (IgE)-mediated allergy, diagnostic skin testing has been discussed controversially in the past and prophylactic pretreatment drug regimens are recommended instead. In the past 6 years, all patients with contrast material-induced anaphylaxis have been subjected to allergologic diagnostic procedures to clearly differentiate allergic and nonallergic anaphylaxis.

Aminopenicillin-induced exanthema allows treatment with certain cephalosporins or phenoxymethyl penicillin.

Objectives: Aminopenicillin-induced exanthema poses a problem in the management of infectious diseases. Due to theoretically possible immunological cross-reactivity, all beta-lactam drugs, i.e.

Early onset pauciarticular arthritis is the major risk factor for naproxen-induced pseudoporphyria in juvenile idiopathic arthritis.

Pseudoporphyria (PP) is characterized by skin fragility, blistering and scarring in sun-exposed skin areas without abnormalities in porphyrin metabolism. The phenylpropionic acid derivative group of nonsteroidal anti-inflammatory drugs, especially naproxen, is known to cause PP. Naproxen is currently one of the most prescribed drugs in the therapy of juvenile idiopathic arthritis (JIA).

Wine anaphylaxis in a German patient: IgE-mediated allergy against a lipid transfer protein of grapes.

Background: IgE-mediated allergy to grapes has very rarely been reported in patients from the Mediterranean area. Recently, endochitinase 4 and a lipid transfer protein (LTP) have been identified as major allergens in grape-allergic patients who do not have an associated pollinosis. The purpose of this case study was to identify the allergens responsible for severe anaphylactic reactions after consumption of wine, fresh grapes and raisins in a German patient.

The role of lipopolysaccharide in T-cell responses following DNA vaccination.

Bacterial products, including lipopolysaccharide (LPS), are potential impurities in plasmid DNA vaccines. LPS has immunostimulatory properties even at exceedingly low concentrations through activation of Toll-like receptor 4 (TLR4). The potency of T-cell responses after vaccination was tested with DNA containing high LPS or depleted of LPS in TLR4-competent and TLR4-deficient mice.

Redundant and alternative roles for activating Fc receptors and complement in an antibody-dependent model of autoimmune vitiligo.

Complement and Fc receptor (FcR)-positive cells mediate effector functions of antibodies. Antibody-dependent immunity against the melanosome membrane glycoprotein gp75/tyrosinase-related protein-1 (TYRP-1) of melanocytes leads to autoimmune hypopigmentation (vitiligo) in mice. Hypopigmentation occurred in mice deficient in activating FcR containing the common gamma subunit (Fc gamma R gamma(-/-)) and in mice deficient in the C3 complement component.