Ruptured aneurysm of the right sinus of valsalva associated with a ventricular septal defect and an anomalous coronary artery

Aneurysms of the sinus of Valsalva are extremely rare. Ruptured aneurysms of the sinus of Valsalva are frequently associated with other congenital defects, particularly with ventricular septal defect, aortic valve regurgitation, and bicuspid aortic valve. We describe the case of a 26-year-old man who had a ruptured aneurysm of the right coronary sinus, a ventricular septal defect, and an anomalous origin of the right coronary artery. Successful surgical correction of the aneurysm and ventricular septal defect was performed with patch repair and aortic valve replacement. A review of the English-language medical literature revealed only 1 other case of a sinus of Valsalva aneurysm associated with a ventricular septal defect and an anomalous coronary artery. Previously published reports of the coexistence of a single coronary artery with a sinus of Valsalva aneurysm or with a ventricular septal defect, and their management, are discussed herein.     

Whole-Genome Analysis of Exserohilum rostratum from an Outbreak of Fungal Meningitis and Other Infections

Exserohilum rostratum was the cause of most cases of fungal meningitis and other infections associated with the injection of contaminated methylprednisolone acetate produced by the New England Compounding Center (NECC). Until this outbreak, very few human cases of Exserohilum infection had been reported, and very little was known about this dematiaceous fungus, which usually infects plants. Here, we report using whole-genome sequencing (WGS) for the detection of single nucleotide polymorphisms (SNPs) and phylogenetic analysis to investigate the molecular origin of the outbreak using 22 isolates of E. rostratum retrieved from 19 case patients with meningitis or epidural/spinal abscesses, 6 isolates from contaminated NECC vials, and 7 isolates unrelated to the outbreak. Our analysis indicates that all 28 isolates associated with the outbreak had nearly identical genomes of 33.8 Mb. A total of 8 SNPs were detected among the outbreak genomes, with no more than 2 SNPs separating any 2 of the 28 genomes. The outbreak genomes were separated from the next most closely related control strain by ∼136,000 SNPs. We also observed significant genomic variability among strains unrelated to the outbreak, which may suggest the possibility of cryptic speciation in E. rostratum.     

Polygenic inheritance of Tourette syndrome,stuttering, attention deficit hyperactivity,conduct, and oppositional defiant disorder: The additive and subtractive effect of the three dopaminergic genes—DRD2, DβH,and DAT1

Polymorphisms of three different dopaminergic genes, dopamine D₂ receptor (DRD2), dopamine β-hydroxylase (DβH), and dopamine transporter (DAT1), were examined in Tourette syndrome (TS) probands, their relatives, and controls. Each gene individually showed a significant correlation with various behavioral variables in these subjects. The additive and subtractive effects of the three genes were examined by genotyping all three genes in the same set of subjects. For 9 of 20 TS associated comorbid behaviors there was a significant linear association between the degree of loading for markers of three genes and the mean behavior scores. The behavior variables showing the significant associations were, in order, attention deficit hyperactivity disorder (ADHD), stuttering, oppositional defiant, tics, conduct, obsessive-compulsive, mania, alcohol abuse, and general anxiety-behaviors that constitute the most overt clinical aspects of TS. For 16 of the 20 behavior scores there was a linear progressive decrease in the mean score with progressively lesser loading for the three gene markers. These results suggest that TS, ADHD, stuttering, oppositional defiant and conduct disorder, and other behaviors associated with TS, are polygenic, due in part to these three dopaminergic genes, and that the genetics of other polygenic psychiatric disorders may be deciphered using this technique. © 1996 Wiley-Liss, Inc.     

Kidney Function in Heart Failure

Objective. The purpose of this investigation was to improve a rankit ordinal model for evaluating and validating dichotomized tests in a prospective Nordic project. Material and methods. The model is based on the assumption that the S‐shaped curve of fractions of positive for increasing concentrations can be de‐convoluted to a histogram and thereby used to calculate the parameters for a ln‐Gaussian distribution. In a Nordic survey, four urine samples with known concentrations of hCG (human chorionic gonadotrophin) and nitrites were distributed to more than 2500 practitioners' offices. Results. The results are presented as parameters (geometric mean and CV) for the components urine‐hCG and urine‐nitrites, together with fractions of positive for clinical critical values (5 and 40?IU/L for hCG), for which fractions should be below 0.01 and above 0.99, respectively, and 7?µmol/L for nitrites. Furthermore, the concentration intervals of varying fractions of positive from 0.01 to 0.99 are estimated as grey zones. The parameters and grey zones for different kits are compared. No urine‐hCG kit fulfilled the low clinical criterion, whereas all fulfilled the high criterion. Seven of the eight nitrites kits had fractions of positive above 0.9 for the company confirmation limit, but varying fractions for the clinically important limit of 7?µmol/L (fractions from 0.06 to 0.83). Conclusions. The present model makes it easy to estimate parameters for the kits, and also to estimate the fractions of measured positives for specified concentrations. It is thus suited for external quality assessment as well as for manufacturers' method validation.     

The Danish PET/depression project: cognitive function and regional cerebral blood flow

OBJECTIVE: To clarify the relationship between cognitive functions and regional cerebral blood flow (rCBF) in a large group of depressed patients compared with healthy controls. METHOD: A set of principal components was extracted from scores of a battery of neuropsychological tests of 40 patients suffering from major depression and 49 healthy controls. The components were correlated by multiple linear regression analyses to selected regions of interest in the brain obtained from positron emission tomography images. RESULTS: In contrast to findings in the healthy controls, cognitive functions in the depressed patients correlated significantly with rCBF in specified regions of interest in only a few instances. CONCLUSION: Our study indicates that disturbed cognitive functions in depression do not relate to specific areas of the brain in the same way as normal cognitive functioning, suggesting that the abnormalities of brain function in major depression may be qualitative, rather than quantitative, in nature.     

Brain activity related to integrative processes in visual object recognition: bottom-up integration and the modulatory influence of stored knowledge

We report evidence from a PET activation study that the inferior occipital gyri (likely to include area V2) and the posterior parts of the fusiform and inferior temporal gyri are involved in the integration of visual elements into perceptual wholes (single objects). Of these areas, the fusiform and inferior temporal gyri were more activated by tasks with recognizable stimuli than by tasks with unrecognizable stimuli. We propose that the posterior parts of the fusiform and inferior temporal gyri, compared with the inferior occipital gyri, are involved in higher level integration, due to the involvement of re-entrant activation from stored structural knowledge. Evidence in favor of this interpretation comes from the additional finding that activation of the anterior part of the left fusiform gyrus and a more anterior part of the right inferior temporal gyrus, areas previously associated with access to stored structural knowledge, was found with recognizable stimuli, but not with unrecognizable stimuli. This latter finding also indicates: (i) that subjects may not refrain from (automatically) identifying objects even if they only have to attend to the objects' global shape, and (ii) that perceptual and memorial processes can be dissociated on both functional and anatomical grounds. No evidence was obtained for the involvement of the parietal lobes in the integration of single objects.     

Enlarging fibroadenoma in a postmenopausal woman: case report.

The authors describe mammographic and pathologic evidence of the growth of a fibroadenoma in an 82-year-old obese woman, 44 years after menopause, who had never been treated with hormone therapy. The patient's obesity is hypothesized as the causal factor for increased estrogen levels leading to growth of the fibroadenoma.