PubMed · 5631566
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W Straub. 1967-02-09. [The deep "spontaneous quick"].. https://pubmed.ncbi.nlm.nih.gov/5631566/
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In the last years, the availability in Italy of technologically advanced products for replacement therapy has produced significant changes in the management of haemophilia and of hereditary bleeding disorders in general. With the aim of a uniform approach to treatment, the Italian Association of Haemophilia Centres express in these guidelines a consensus on therapeutic strategies designed to ensure the highest degree of safety and efficacy for the treatment of inherited coagulopathies. The guidelines provide specific recommendations for the choice of the product according to updated scientific evidence, and advice on optimal dosages for the treatment of rare bleeding disorders. The system for haemophilia care and funding in Italy is briefly described.
An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type 1a. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type 1a without severe psychomotor retardation.
OBJECTIVE: To implement an interactive program for teaching coagulation disorders on the World Wide Web. DESIGN AND RESULTS: The core materials in this program were derived from a personal computer software program previously designed by the authors. Three modules were developed in this program: (1) a coagulation profile to display typical results of coagulation screening tests for each disorder; (2) a differential diagnosis module to generate a list of diagnoses that fit the test results in a given case; and (3) a synopsis of coagulopathy and therapy to provide essential information on disorders and therapeutic options. A total of 41 coagulation disorders were included in the knowledge base. CONCLUSIONS: Since the World Wide Web is increasingly more accessible to computer users, it has become an ideal medium for teaching purposes. Our experience with this program in teaching medical students and pathology residents at our institution has been very encouraging.