Background and aims: Coeliac disease (CD) is an enteropathic disorder characterised by a strong association with major histocompatibility complex (MHC) heterodimer HLA-DQ2. It has been suggested that other HLA class I genes in combination with DQ may also contribute to CD susceptibility. The aim of this study was to investigate whether other candidate genes modify the risk of developing differe...

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

Dysentery amebae may live for 72 hours in vitro. The transition of the large vegetative forms into the cyst may be observed in vitro. The large vegetative ameba always passes into an intermediate stage before assuming the small vegetative form. The atypical forms are dysentery amebas with abnormal nuclei and cytoplasm. When circumstances are unfavorable encystment takes place. Under favorable c...

Pylephlebitis with associated liver abscesses is a rare complication of Crohn's disease that usually presents in the setting of active disease and recent escalation of the immunosuppressive regimen. Here we describe a 17-year-old female patient with active Crohn's disease who presented with a clinical picture and hepatic radiographic findings concerning for pylephlebitis and associated liver ab...

Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is r...

When people predict the future behavior of a person, thinking of that target as an individual decreases the accuracy of their predictions. The present research examined one potential source of this bias, whether and why predictors overweight the atypical past behavior of individuals. The results suggest that predictors do indeed overweight the atypical past behavior of an individual. Atypical p...

This case report describes an atypical clinical presentation of visceral leishmaniasis affecting the digestive tract and causing malabsorption syndrome in a patient without recognized immunosuppressive condition. After appropriate treatment for the classical visceral form of the disease, diarrhea persisted as the main symptom and massive infection by Leishmania was detected by histopathology an...

BACKGROUND Differentiating Parkinson's disease and atypical parkinsonism on clinical parameters is challenging, especially in early disease courses. This is due to large overlap in symptoms and because the so called red flags, i.e. symptoms indicating atypical parkinsonism, have not (fully) developed. Brain MRI can aid to improve the accuracy and confidence about the diagnosis. OBJECTIVE AND ...