J

Fig. 1 A. Distribution of germline mutations in VHL Types 1 and 2. VHL Type 1 disease exhibits germline deletions (46%), nonsense mutations (10%), and missense mutations (40%), the latter frequently found in the b region of VHL. VHL Type 2 disease shows missense mutations (96%) and rarely deletions (4%). (Reviewed in Ref. [18].) B. Regions of VHL showing exon regions encoding the a and b domains, HIF-binding region (codons 67-117), and elongin C-binding domain (codons 157-172).

and PHEO. Unrecognized PHEO may cause hypertension at times such as surgery or pregnancy, due to sudden elevation in circulating catecholamines, leading to a life-threatening situation. Regular screening for PHEO, including urinary catecholamines, and imaging studies [ultrasonography, CT, or magnetic resonance imaging (MRI)] should be conducted. Given the early onset nature of PHEO in VHL, it has been recommended that screening begins at 5 years of age.[6]

Retinal angiomas are present in greater than half of patients with VHL. Regular opthalmological examinations from a young age are suggested as a preventative measure in VHL patients with the aim of avoiding retinal detachment and hemorrhage that may lead to blindness. Imaging techniques, such as CT or MRI, are suggested to assess for pancreatic cysts (if pancreatic islet tumors are identified, surgery is recommended) and endolymphatic sac tumors of the internal auditory canal that may lead to hearing loss.

Lifelong, regular surveillance is required to best manage the multiple and often recurrent tumors in VHL. Detailed review articles focusing on appropriate clinical management for VHL patients have been published.[1,7]

Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

Get My Free Ebook


Post a comment