Anesthetic implications of Ellis-van Creveld syndrome

Ellis-van Creveld syndrome (chondroectodermal or mesoectodermal dysplasia) is an autosomal recessive disorder. Initial reports of the syndrome identified a tetrad of clinical manifestations, including chondrodysplasia, postaxial polydactyly, ectodermal dysplasia, and congenital heart disease (CHD). Additional involvement may occur in organs of endodermal origin, such as the pulmonary, renal, gastrointestinal (hepatic and pancreatic), hematologic, and central nervous systems. The perioperative care of a 2-year, 8-month-old girl who underwent surgical correction of CHD is presented.     

Correlation of near infrared absorption and diffuse reflectance spectroscopy scattering with tissue neovascularization and collagen concentration in a diabetic rat wound healing model

The objective of this paper was to correlate optical changes of tissue during wound healing measured by near infrared (NIR) and diffuse reflectance spectroscopy (DRS) with histologic changes in an animal model. Amplitude and phase of scattered light were obtained in a diabetic rat and control model and biopsies were taken for blood vessel ingrowth and collagen concentration. NIR absorption coefficient correlated with blood vessel ingrowth over time, in both the control and diabetic animals. DRS data correlated with collagen concentration. Previous publications by this group documented only the NIR changes during the wound healing process but this is the first reported correlation with histology data. The ability to correlate DRS scattering with collagen concentration during healing is another important and novel finding. This technology may play an important role clinically in assessing the efficacy of wound healing agents in diabetics.     

Clinical Features of Multiple Glomus Tumors

BACKGROUND While glomus tumors are usually solitary, multiple glomus tumors do occur. The purpose of this study was to review the clinical characteristics and outcomes in a series of patients with multiple glomus tumors presenting to our institution.
METHODS A retrospective review of patients with multiple glomus tumors seen at our institution over the past 25 years was performed.
RESULTS Twenty-two patients with multiple glomus tumors were identified. Initial diagnosis was blue rubber nevus syndrome and hemangioma in 10 and 7 patients, respectively. The mean duration from onset of symptoms until correct diagnosis was 14.6 years. Involvement of an extremity was noted in 90.9% of the patients. An autosomal dominant pattern of inheritance was noted in 13 of 22 patients. The classic triad of symptoms in solitary glomus tumors—pain, pinpoint tenderness, and cold hypersensitivity—was noted in only 1 of the 22 patients; pain and pinpoint tenderness were simultaneously identified in 14 patients, 8 with visible lesions but no symptoms. Symptoms were relieved by surgical excision in most patients.
CONCLUSION Patients with multiple glomus tumors are frequently misdiagnosed. Proper recognition and diagnosis would lead to improved management.     

Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16‐Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity. © 2007 Movement Disorder Society     

Equilibration, Distribution, and Elimination of a Single Dose of Intravenous Ethanol in Dogs with Intact Renal Function or Anuria

We infused 11 mmol/kg of intravenous ethanol into dogs with either intact renal function (n = 5) or ureteral ligation (n = 7), and studied by frequent blood sampling and by urine collection the time and mode of ethanol equilibration, the elimination parameters, and the comparison of observed equilibrated plasma ethanol levels to levels predicted either by linear or by nonlinear kinetics. Equilibration time was 25 min or less, renal fraction of elimination was less than 5% of total elimination, and both linear (elimination rate) and nonlinear (Vmax and Km) elimination parameters were not different between dogs with intact renal function and dogs with anuria. Serum sodium concentration did not change throughout the experiments, eliminating the hypothesis that acute ethanol load creates clinically significant temporary osmotic water transfer from the intracellular into the extracellular compartment. Distribution volumes of ethanol from linear kinetics were slightly, but not statistically, greater than volumes from nonlinear kinetics. Equilibrated plasma ethanol levels predicted by linear kinetics agreed closely with observed levels greater than 4 mmol/liter, but underestimated observed levels less than 4 mmol/liter. Equilibrated plasma ethanol levels predicted by nonlinear kinetics agreed with observed levels throughout the range of observed concentrations. The use of linear kinetics to predict blood ethanol levels should be limited to the pseudolinear portion of the blood alcohol curve.     

Electrocardiographic examination of dental patients with systemic lupus erythematosus

Cardiac complications and abnormalities associated with systemic lupus erythematosus (SLE) have been well described. The most well-recognized cardiac myopathies in SLE are pericarditis and valvular problems such as verrucous endocarditis. Electrocardiogram (EKG) abnormalities and arrhythmias have also occurred and such individuals may have persistent tachycardia. To determine the prevalence of dental patients with SLE who have these EKG changes, a pilot study was designed in which a group of 13 subjects with SLE underwent EKG monitoring in the clinic. Most of these were patients referred to the oral medicine clinic. A randomly selected group of age-gender matched controls were monitored in an identical manner.
All subjects first completed a cardiac screening questionnaire, were comfortably seated, and then monitored. The results indicated that the overall prevalence of EKG abnormalities among the subjects with SLE was 61.5% (n=8). The most common arrhythmia was supra ventricular extra systoles. These were compared with a control group with a prevalence of 23% (n=3). Of the 76.9% of the subjects with SLE who reported a positive history of cardiac abnormalities, 80% demonstrated EKG abnormalities as compared with 50% of the control group. Of the subjects with SLE who did not report a previous history, none demonstrated EKG abnormalities as was the same for the control group. These results indicate a high prevalence of EKG abnormalities in dental patients with SLE, especially those with a positive cardiac history.     

A longitudinal study of platelet behaviour and thromboxane production in whole blood in normal pregnancy and the puerperium

A longitudinal study of platelet behaviour (platelet aggregation and release reaction) in whole blood and of serum thromboxane B2 production was performed before, during and after normal pregnancy. The response of platelets to arachidonic acid and to adrenaline was significantly increased in the third trimester. Six weeks after delivery, values were still modestly increased but return to non-pregnant values was complete by 12 weeks. Serum thromboxane B2 production was unchanged throughout pregnancy and the puerperium.     

Inducible transformation of fibroblasts using a metallothionein-v-myc gene construct

An inducible oncogene construct has been engineered by coupling the MC29 v-myc oncogene to the sheep metallothionein promoter. Transfection of this plasmid, which also contains the neomycin resistance gene, into Rat-1 cells, has resulted in the isolation of independent clones resistant to G418. Certain of these clones were found to exhibit inducible transformation in response to ZnSO4. Transformation was graded with increasing ZnSO4 levels and was reversible when ZnSO4 was removed from the media. By analyzing v-myc mRNA levels, the inducible alterations in cellular morphology and growth were found to be associated with increased v-myc expression. The metallothionein promoter exhibited negligible constitutive expression of v-myc and none of the clones isolated exhibited spontaneous transformation. Our results show that the use of a metallothionein promoter v-myc construct facilitates the study of inducible fibroblast transformation.