The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli). The proposita had a heterozygous partial deletion of the FX gene with severe deficiency of FX activity and antigen. The lesion, which was inherited from her mother, removes the 3' portion of the gene coding for the catalytic domain of the fac...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized histologically by fibro-fatty replacement of heart muscle, and clinically by ventricular arrhythmias and right ventricular dysfunction. This report presents monozygotic twins with ARVC, suggesting a genetic abnormality as the most probable cause.

A family with multiple musculoskeletal abnormalities is reported. The disorder is characterised by platyspondyly, abnormality of the upper femoral epiphyses, and the development of precocious osteoarthritis. It is proposed that this family represents an example of autosomal dominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).

The classification of Charcot-Marie-Tooth disease and related hereditary motor and sensory neuropathies has evolved to incorporate clinical, electrophysiological and burgeoning molecular genetic information that characterize the many disorders. For several inherited neuropathies, the gene product abnormality is known and for others, candidate genes have been identified. Genetic testing can pinp...

Chronic oral candidiasis has been described in association with abnormalities of the endocrine system on many occasions, both in case reports (Sutphin, Albright, and McCune, 1943), and more general reviews (Kunin et al, 1963). Chronic candidiasis has also been recorded in the familial thymic aplasia described by Nezelof (Nezelof et al, 1964), Swiss-type agammaglobulinaemia (Hitzig, 1968) and Di...

Most of the crowd abnormal event detection methods rely on complex hand-crafted features to represent the crowd motion and appearance. Convolutional Neural Networks (CNN) have shown to be a powerful tool with excellent representational capacities, which can leverage the need for hand-crafted features. In this paper, we show that keeping track of the changes in the CNN feature across time can fa...

F L I E S expressing a new eye abnormality (scarp, see below) were observed during the summer of 1960 in a "wild" Cockaponsett stock. A review of environmental conditions showed that the temperature had risen to 30°C on each of several days before the abnormal eyes were detected. Some of the abnormalities resembled certain expressions of known mutants such as Lobe eyes and tumorous head. Lobe e...

Hemophilia is an inherited X-linked coagulopathy defined by a deficiency or abnormality in the clotting function of factor VIII (Hemophilia A) IX B). Prophylaxis – regular administration therapeutic products to maintain hemostasis and prevent bleeding mainstream treatment. Addressing development scientific evidence for administrating prophylaxis goal this review. modality choice people with sev...

Uniparental disomy represents a departure from the usual situation in which one member of each pair of chromosomes (called homologous chromosomes) is normally inherited from each parent. Thus, for each of the 23 pairs of human chromosomes, one is normally inherited from the father and the other from the mother. Uniparental disomy (UPD) is the abnormal situation in which both members of a chromo...