Widespread central nervous system cavernous malformations associated with café-au-lait skin lesions. Case report

The simultaneous presence of cavernous malformations in the brain and spinal cord is a very rare finding and is typically associated with familial cavernous malformations. Although they are uncommon, various skin lesions can manifest in patients with familial cavernous malformations. The authors report on a 60-year-old man in whom more than 100 lesions consistent in appearance with cavernous malformations, including several intramedullary spinal cord lesions, were found throughout the neuraxis. This patient also displayed prominent café-au-lait skin lesions, but had no additional signs of neurofibromatosis or other neurocutaneous disorders. Analysis of his DNA revealed a novel mutation in the KRIT1/CCM1 gene, thereby confirming the diagnosis of familial cavernous malformation. The presence of these lesions in every major compartment of this patient's central nervous system underscores their indiscriminate nature and the need to screen throughout the neuraxis in patients in whom familial cavernous malformations are suspected. The findings in this case add to the growing list of skin lesions associated with genetically confirmed familial cavernous malformations. In patients presenting with seizures, focal neurological deficits, or hemorrhagic stroke, the presence of unusual skin lesions should prompt consideration of familial cavernous malformations, and appropriate screening should be performed.     

Management of lower extremity arterial injuries

Past and current military experience has contributed considerably to the advances made in the treatment of extremity vascular injuries. However, the management of arterial injuries of the lower extremity is still associated with significant rates of limb loss and functional deficits. The incidence of civilian arterial limb injuries, including those related to iatrogenic vessel catheterization, has increased over time, but remains fortunately uncommon. Several related issues, such as the initial order of intervention for associated bony injuries, use of temporary intravascular shunt, repair of concomitant venous injuries, and prophylactic fasciotomy, have been debated extensively and remain controversial. The current treatment of extremity arterial injuries continues to evolve with the availability of superior imaging modalities and emerging endovascular technology. Additionally, the multi-disciplinary approach to the injured patients has produced improved limb-salvage and patient survival. In this review, we discuss the diagnostic evaluation, surgical and endovascular treatment of arterial injuries in the lower extremity.     

Induction of apoptosis in oral epithelial cells by Candida albicans

During infection, interactions between Candida albicans and oral epithelial cells result in oral epithelial cell death. This is clinically manifested by the development of oral mucosal ulcerations generally associated with discomfort. In vitro studies have shown that C. albicans induces early apoptotic alterations in oral epithelial cells; however, these studies have also shown that treatment of infected cells with caspase inhibitors does not prevent their death. The reasons for these contradictory results are unknown and it is still not clear if C. albicans stimulates oral epithelial signaling pathways that promote apoptotic cell death. Activation of specific death pathways in response to microbial organisms plays an essential role in modulating the pathogenesis of a variety of infectious diseases. The aim of this study was to (i) characterize C. albicans‐induced apoptotic morphological alterations in oral epithelial cells, and (ii) investigate the activation of apoptotic signaling pathways and expression of apoptotic genes during infection. Candida albicans induced early apoptotic changes in over 50% of oral epithelial cells. However, only 15% of those showed mid‐late apoptotic alterations. At the molecular level, C. albicans caused a loss of the mitochondrial transmembrane potential and translocation of mitochondrial cytochrome c. Caspase‐3/9 activities increased only during the first hours of infection. Moreover, poly[ADP ribose] polymerase 1 was cleaved into apoptotic and necrotic‐like fragments. Finally, five anti‐apoptotic genes were significantly upregulated and two pro‐apoptotic genes were downregulated during infection. Altogether, these findings indicate that epithelial apoptotic pathways are activated in response to C. albicans, but fail to progress and promote apoptotic cell death.     

Stereoacuity and ocular associations at age 12 years: findings from a population-based study.

PURPOSE: To report the distribution of stereoacuity thresholds and ocular characteristics associated with reduced stereoacuity in a representative sample of 12-year-old Australian children. METHODS: Stereoacuity thresholds were determined using the three quantitative plates of the TNO test in 2343 children, either unaided or with spectacles, if worn. Logarithm of minimum angle of resolution (logMAR) visual acuity was measured. Cycloplegic autorefraction (using cyclopentolate), cover testing, and dilated fundus examination were performed. Reduced stereoacuity was defined as > 120 arcsec. Myopia was defined as spherical equivalent refraction (SER) < or = -0.50 D hyperopia as spherical equivalent refraction > or = +2.0 D, anisometropia as spherical equivalent refraction difference between eyes > or =1.00 D, and astigmatism as cylinder > or = 1.0 D. RESULTS: Stereoacuity was based on unaided visual acuity in 1975 children (84.3%) and on spectacle-corrected visual acuity in 368 children (15.7%); 87 children (3.7%) had reduced stereoacuity. Amblyopia was the most common identifiable cause, accounting for 32%, followed by strabismus (15%) and anisometropia (14%). Presence of anisometropia was significantly associated with reduced stereoacuity; 78.6% of anisometropic children achieved normal stereoacuity versus 98.9% without anisometropia (p < 0.0001). CONCLUSIONS: Reduced stereoacuity was relatively uncommon in a population of 12-year-old Australian children. Its functional and psychosocial impact on individuals and on the whole population remains uncertain.     

Survey of phototherapy practice by dermatologists in Australia

A postal survey was sent to all dermatologists in Australia to determine current phototherapy practices. Questionnaires were returned by 158 (57%) of 277 dermatologists, of whom 112 (71%) provided phototherapy. Large variations existed in attitudes and practice, including indications, contraindications, dosage schedules, equipment maintenance, response to adverse events, and follow-up arrangements. Cumulative ultraviolet (UV) doses for psoralen and UVA (PUVA) were not calculated by 21%, while 30% did not calculate cumulative doses for UVB. Written informed consent was not obtained by 32%. Phototherapist dermatologists reported 25 patients developing melanoma following PUVA. Only 30% of Australian dermatologists organize regular follow up of patients after phototherapy. Australians have the highest rates of melanoma and non-melanoma skin cancers in the world, because of their ancestry and high solar exposure. This makes it inappropriate for Australian dermatologists to rely entirely on foreign safety data when assessing the risks and benefits of phototherapy in Australian patients. There is a need for standardized Australian guidelines that can be prospectively assessed to ensure phototherapy is used to maximize efficacy and minimize risks in Australian patients, given their unique ancestral mix and outdoor lifestyle.