The R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Hemochromatosis type 4 is one of the most common causes of primary iron overload, after -related hemochromatosis. It is an autosomal dominant disorder, primarily due to missense mutations in This gene encodes ferroportin 1 (FPN1), which is the sole iron export protein reported in mammals. Not all heterozygous missense mutations in are disease-causing.

Epidemiology, risk factors and outcomes of invasive aspergillosis in solid organ transplant recipients in the Swiss Transplant Cohort Study.

Background: There is lack of recent multicenter epidemiological data on invasive aspergillosis (IA) among solid organ transplant recipient (SOTr) in the mold-acting antifungal era. We describe the epidemiology and outcomes of IA in a contemporary cohort of SOTr using the Swiss Transplant Cohort Study.

Methods: All consecutive SOTr with proven or probable IA between 01.

HLA class II-associated genetic susceptibility in idiopathic progressive sensorineural hearing loss.

To investigate the association between genes in the major histocompatibility complex and inner ear disease susceptibility at the DNA level, high-resolution genotyping for HLA class II (HLA-DR, -DQ, -DP) was performed by polymerase chain reaction-sequence-specific oligonucleotide reverse dot blot and polymerase chain reaction-restriction fragment length polymorphism analysis in 34 patients with idiopathic progressive sensorineural hearing loss (PSHL) and in 214 controls. The frequencies of DRB1*0301, DRB3*0101, DQB1*0201, and DPB1*0401 were significantly increased in patients with idiopathic PSHL compared with controls. The DQB1*0301 allele was significantly decreased in the patients.

Guinea pig inner ear antigens: extraction and application to the study of human autoimmune inner ear disease.

In this study, the authors attempted to develop a method of extracting guinea pig inner ear antigens for otoimmunological research, and to investigate the distribution of the antigens in the various structures of the inner ear. The antigens were extracted either from the entire or from various parts of the guinea pig inner ear. These antigens were separated on sodium dodecylsulfate-polyacrylamide gel electrophoresis (SDS-PAGE) gels.

Detection of inner ear disease autoantibodies by immunoblotting.

To define further the character of autoantibodies against the inner ear in patients with inner ear disease, Autoantibodies in sera from 82 patients with inner ear disease were investigated by immunoblotting. The inner ear antigens were extracted from Hartley guinea pigs. Brain, kidney, lung, heart and liver extracts were also prepared.

Manometric study of the activity of alizapride on the motor function of the human sphincter of Oddi.

Alizapride is a potent antiemetic, acting as a dopamine receptor antagonist on the chemoreceptor trigger zone with few gastrokinetic properties. Little is known of its activity on the human sphincter of Oddi (SO). The aim of this study was to assess the effect of alizapride on SO motor function and to evaluate a possible use of alizapride in premedication for endoscopy of the upper digestive tract.

Our experience in rehabilitation of the severely deaf by means of a monocanal cochlear implant.

We describe our experience with monocanal cochlear implants, which began in 1984 with a view to rehabilitation in severe bilateral deafness. This article describes two types of implant (Prelco and MSR-UCL), criteria of patient selection, surgical aspects pre- and postoperative evaluation setting by group, re-education aspects, and evolution test with quantitative values.