Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

PURPOSE: To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD). METHODS: Three hundred twenty-one AMD patients, 192 ethnically similar control subjects, 39 unrelated probands with familial Best disease, and 57 unrelated probands with the ophthalmoscopic findings of Best disease but no family history were screened for sequence variations in the VMD2 gene by single-strand conformation polymorphism (SSCP) analysis. Amplimers showing a bandshift were reamplified and sequenced bidirectionally. In addition, the coding regions of the VMD2 gene were completely sequenced in six probands with familial Best disease who showed no SSCP shift. RESULTS: Forty different probable or possible disease-causing mutations were found in one or more Best disease or AMD patients. Twenty-nine of these variations are novel. Of the 39 probands with familial Best disease, mutations were detected in all 39 (33 by SSCP and 6 by DNA sequencing). SSCP screening of the 57 probands with a clinical diagnosis of Best disease but no family history revealed 16 with mutations. Mutations were found in 5 of 321 AMD patients (1.5%), a fraction that was not significantly greater than in control individuals (0/192, 0%). CONCLUSIONS: Patients with the clinical diagnosis of Best disease are significantly more likely to have a mutation in the VMD2 gene if they also have a positive family history. These findings suggest that a small fraction of patients with the clinical diagnosis of AMD may actually have a late-onset variant of Best disease, whereas at the same time, a considerable fraction of isolated patients with the ophthalmoscopic features of Best disease are probably affected with some other macular disease.     

Centenary of the first radiotherapy treatment of retinoblastoma (Hilgartner, 1903)

One hundred years ago, Hilgartner used external radiotherapy for the first time in the treatment of retinoblastoma. This first case was published in the Texas Medical Journal in 1903. Immediate results were reported to be excellent but the long-term outcome was not known. The first documented cure of retinoblastoma over a long period of time was a case initially treated by Verhoeff (Boston) in 1917, with histopathological findings provided 71 years later by Marcus et al. at the patient's death. Henry Louis Hilgartner was born in 1868 in Baltimore and died in 1937 at the age of 69. His revolutionary treatment developed from the discovery of X-rays in 1895 by Wilhelm Conrad R?ntgen and the parallel discovery of radioactivity by Henri Bequerel and Marie and Pierre Curie. In the sociopolitical context of 1903, Emile Loubet was president of France and this same year saw the Wright brothers' first motorized flight with the first power-driven heavier-than-air machine. The development of radiotherapy in the treatment of retinoblastoma can be divided into three distinct periods: an initial period of trial and error lasting from 1903 to 1928; a second period from 1929 to 1948 covering the introduction of calibrated radon needles up to the advent of external radiotherapy, and a third period, from 1948 to the present day, which can be considered a time of technical improvement and innovation. One hundred years ago, radiotherapy made a triumphant entry on the scene of retinoblastoma management. With our present knowledge of its side effects, we are now trying to remove it.     

In vitro infection of human primary adipose cells with HIV-1: a reassessment

We reassessed the infection ability of human primary preadipocytes. The use of X4, R5 or VSV-G-pseudotyped viral particles indicated that viral entry is the limiting step. However, transfection with HIV-1 receptors restored efficient infection. Analyses of CD4, CXCR4 and CCR5 expression on preadipocytes and adipocytes revealed that receptor co-expression levels did not permit HIV-1 entry into adipose cells from all biopsies tested. We concluded that adipose tissue cannot be infected with HIV-1 in vivo.     

The importance of early surgery in preventing the esthetic sequelae of cervicofacial mucocutaneous hemangiomas in children

Infants with cutaneous hemangiomas are classically managed medically, well-defined surgery being planned for esthetic correction at the age of 8 to 10 years. We present a series of 65 cases of early surgery in children with head and neck cutaneous or mucosal hemangiomas where irreversible and unesthetic scars were predictable. The surgical procedure was simple and the cosmetic result was better than could be expected after late surgery, limiting psychological consequences. In our opinion, the abstention rule should be changed. A multidisciplinary check-up at 2 years to identify cases with a predictably unesthetic scar after complete resolution of the angioma would help select cases where early surgical correction, taking advantage of the exceptional quality of skin in these young children, would be most beneficial.