A guide for the dental management of the three inherited bleeding disorders, von Willebrand's disease, haemophilia A and haemophilia B, was established jointly by the Institute of Medical and Veterinary Science Transfusion and Haemostasis Unit in conjunction with the Medically Compromised Dental Unit at the Adelaide Dental Hospital. This protocol was subjected to a successful trial for 24 months.

A retrospective study has been carried out on 67 patients with posterior fossa haemangioblastomata. Clinical details are presented, and the problems of diagnosis discussed. A fresh definition of the von Hippel-Lindau complex is put forward. The results of surgery are good for patients with solitary and sporadic tumours.

A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.

The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described von Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this patient.

Our recent study shows that autophagy collaborates with proteasomes to degrade endothelial PAS domain-containing protein 1 (EPAS1, also known as HIF2α) in a manner dependent on Von Hippel-Lindau (VHL) and sequestosome 1 (SQSTM1/p62). The genetic dysregulation of autophagy is a common feature of different subtypes of renal cell carcinoma (RCC).

Hemangioblastomas of the central nervous system are the most common tumors seen in patients with von Hippel-Lindau (VHL) disease. A very rare case of diffuse leptomeningeal hemangioblastomatosis obliterating large areas of the subarachnoid space, both intracranial and within the spinal canal, which developed during a relatively short period, in a patient with VHL disease is presented.

Cerebellar haemangioblastomas are rare in the elderly. Those associated with the von Hippel-Lindau (VHL) disease, usually present during the third decade of life. We report an unusually delayed presentation in an 80 year old obligate carrier of VHL gene mutation.

Hemangioblastomas are extremely rare in supratentorial locations, and to date, approximately 128 cases of supratentorial hemangioblastoma have been reported in the literature. Here, we report a female case of supratentorial hemangioblastoma, not associated with von Hippel-Lindau disease. We describe its clinical, neuropathological, and neuroradiological characteristics, elaborate the surgical p...

CONTEXT Endolymphatic sac tumors (ELSTs) are associated with von Hippel-Lindau disease and cause irreversible sensorineural hearing loss (SNHL) and vestibulopathy. The underlying mechanisms of audiovestibular morbidity remain unclear and optimal timing of treatment is not known. OBJECTIVE To define the mechanisms underlying audiovestibular pathophysiology associated with ELSTs. DESIGN, SETT...

Several models have been proposed for the mechanism of transcript termination by Escherichia coli RNA polymerase at rho-independent terminators. Yager and von Hippel (Yager, T. D. & von Hippel, P. H. (1991) Biochemistry 30, 1097-118) postulated that the transcription complex is stabilized by enzyme-nucleic acid interactions and the favorable free energy of a 12-bp RNA-DNA hybrid but is destabil...