Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

The 2.0 release of the Universal Dependency treebanks demonstrates the effectiveness of the UD scheme to cope with very diverse languages. The next step would be to get more of syntactic analysis, and the “enhanced dependencies” sketched in the UD 2.0 guidelines is a promising attempt in that direction. In this work we propose to go further and enrich the enhanced dependency scheme along two ax...

Two important haematological problems were found in an otherwise healthy 78 year old man: chronic myelomonocytic leukaemia; and a complex, acquired, hyperfibrinolytic bleeding disorder characterized by prolonged coagulation times, deficiency of coagulation factors V, X, and XI, anti-thrombin III and proteins C and S, with high concentrations of circulating tissue plasminogen activator, and low ...

Suicidal behavior constitutes a major public health problem. Based on the stress-diathesis model, biological correlates of a diathesis might help to predict risk after stressor-exposure. Structural changes in cortical and subcortical areas and their connections have increasingly been linked with the diathesis. The current study identified structural network changes associated with a diathesis u...

BACKGROUND We evaluated for phobias the prediction of the stress-diathesis model that the magnitude of stress at onset is inversely proportional to the level of underlying diathesis. METHODS In more than 7500 twins from a population-based registry, we assessed the personality trait of neuroticism--as an index of phobia-proneness--and the lifetime histories of 5 phobia subtypes (agoraphobia, s...

The very incomprehensibility of the suicidal act has been occupying the minds of researchers and health professionals for a long time. Several theories of suicide have been proposed since the beginning of the past century, and a myriad of neurobiological studies have been conducted over the past two decades in order to elucidate its pathophysiology. Both neurobiology and psychological theories ...

The effects of divorce on children's behavioral development have proven to be quite varied across studies, and most developmental and family scholars today appreciate the great heterogeneity in divorce effects. Thus, this inquiry sought to determine whether select dopaminergic genes previously associated with externalizing behavior and/or found to moderate diverse environmental effects (dopamin...

there is strong evidence that life stress is associated with vulnerability to depression ; however, the specific mechanism of this effect is unclear. the current study aimed to address this gap in the literature by examining both diathesis-stress and stress generation models of vulnerability to depressive symptoms in a sample of emerging adults assessed weekly over a six-week period. in support...

Hemotrophic mycoplasmas (HM) are highly specialized red blood cell parasites that cause infectious anemia in a variety of mammals, including humans. To date, no in vitro cultivation systems for HM have been available, resulting in relatively little information about the pathogenesis of HM infection. In pigs, Mycoplasma suis-induced infectious anemia is associated with hemorrhagic diathesis, and...

Schizotypy, defined in terms of commonly occurring personality traits related to the schizophrenia spectrum, has been an important construct for understanding the neurodevelopment and stress-diathesis of schizophrenia. However, as schizotypy nears its sixth decade of application, it is important to acknowledge its impressively rich literature accumulating outside of schizophrenia research. In t...