Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

A 5.4-year-old male propositus is reported with mild dysmorphic features including hypoplasia of the radial part of both hands affecting thenar, thumb and fingers 2-3, incomplete syndactyly of fingers 3-4, single palmar creases, brachymesophalangia of toes 3-5, dissociated retardation of bone age, telecanthus, spina bifida occulta, cryptorchidism, muscular hypotonia, and borderline mental retardation. His karyotype was unbalanced, 46,XY,der(16)ins(4;16)(q26q28.

Centromeric chromosomal translocations show tissue-specific differences between squamous cell carcinomas and adenocarcinomas.

Structural chromosomal aberrations are common in epithelial tumors. Here, we compared the location of centromeric breaks associated with whole arm translocations in seven adenocarcinoma cell lines and nine squamous cell carcinoma cell lines using SKY, microarray-based comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH). Whole arm translocations were more frequent in squamous cell carcinomas (112 in nine cell lines and nine in one short-term culture) than in adenocarcinomas (13 in seven cases) and most often resulted in copy number alterations.

Comparison of intra-arterial thrombolysis with conventional treatment in patients with acute central retinal artery occlusion.

Background: Several case series and a recent meta-analysis indicate that intra-arterial thrombolysis (IAT) is effective for the treatment of acute central retinal artery occlusion (CRAO).

Methods: A total of 37 patients with acute monocular blindness because of unilateral thromboembolic CRAO were treated with IAT using urokinase within six hours of the onset of symptoms. Visual outcome was compared with a control group of 19 patients, also seen within six hours, who did not undergo thrombolytic treatment.

Evolution of HIV-1-related conjunctival molluscum contagiosum under HAART: report of a bilaterally manifesting case and literature review.

Purpose: To present a rare case of bilateral conjunctival molluscum contagiosum (MC) in an HIV-positive individual who had unilateral lesion excision before induction of highly active antiretroviral therapy (HAART), and to discuss the pathophysiological consequences of immune restoration.

Case Report: A 40-year-old male Caucasian presented with atypical, bilateral lesions of the limbal conjunctiva due to MC. Before the induction of HAART, nodules in the left eye were excised whilst the single lesion in the right eye was left untouched.

Selective intra-arterial fibrinolysis of acute central retinal artery occlusion.

Background And Purpose: Occlusion of the central retinal artery (CRAO) causes a sudden decrease of monocular vision. Because early restoration of blood flow may improve outcome, we attempted to treat CRAO with selective intra-arterial fibrinolysis.

Methods: Intra-arterial fibrinolysis was performed within 6 hours after symptom onset in 17 patients with thromboembolic CRAO.