CT findings in Swyer-James syndrome

Swyer-James syndrome (SJS) is usually diagnosed with plain chest radiographs obtained during inspiration/expiration. The authors studied patients with CT to assess its value in the evaluation of this syndrome. In patients with SJS, CT was useful in the determination of bronchial patency (all nine patients), lung parenchymal changes (subpleural infiltrates in six patients, atelectasis in two, and cavities in two), and the extent and degree of bronchiectasis (all nine patients). If CT is used for the evaluation of bronchiectasis, knowledge of the main findings associated with SJS (hyperlucent lung without anteroposterior gradient attenuation [n = 8], small lung [n = 6], and diminished central and peripheral pulmonary arteries [n = 9]) should facilitate the diagnosis of associated SJS. Expiration CT would support the diagnosis with demonstration of air trapping.     

Iliopsoas muscles: MR study of normal anatomy and disease

Magnetic resonance (MR) imaging was performed on 15 healthy subjects to define the appearance of the iliopsoas muscle and on 15 patients with iliopsoas disease. Seven patients had tumorous involvement of the muscles, five had inflammatory disease, one had retroperitoneal hemorrhage, one had iliopsoas bursitis, and one had bilateral hypertrophy. MR imaging permitted delineation of the muscles and depiction of the disease condition. Transverse MR images alone almost always provided the necessary data to determine the origin and extent of disease. Sagittal images were occasionally useful in defining the extension of disease into the spine. T1-weighted images provided optimal contrast between the muscles and adjacent tissues, while T2-weighted images were more useful for depicting disease within the muscles themselves.     

Prevalence of <Emphasis Type="Italic">von Hippel-Lindau</Emphasis> gene mutations in sporadic renal cell carcinoma: results from the Netherlands cohort study

Background  

Biallelic von Hippel-Lindau (VHL) gene defects, a rate-limiting event in the carcinogenesis, occur in approximately 75% of sporadic clear-cell Renal Cell Carcinoma (RCC). We studied the VHL mutation status in a large population-based case group.     

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

Most targeted gene mutations are recessive and analyses of gene function often focus on homozygous mutant phenotypes. Here we describe parts of the expression pattern of M-twist in the head of developing wild-type mice and present our analysis of the phenotype of heterozygous twist- null animals at around birth and in adults. A number of twist -null heterozygous mice present skull and limb defects and, in addition, we observed other malformations, such as defects in middle ear formation and the xyphoid process. Our study is of interest to understand bone formation and the role of M-twist during this process, as within the same animal growth of some bones can be accelerated while for others it can be delayed. Moreover, we show here that expressivity of the mouse mutant heterozygous phenotype is dependent on the genetic background. This information might also be helpful for clinicians, since molecular defects affecting one allele of the human H-twist ( TWIST ) gene were identified in patients affected with Saethre-Chotzen syndrome (SCS). Expressivity of this syndrome is variable, although most patients present craniofacial and limb malformations resembling those seen in mutant mice. Thus the mutant mouse twist -null strain might be a useful animal model for SCS. The twist -null mutant mouse model, combined with other mutant mouse strains, might also help in an understanding of the etiology of morphological abnormalities that appear in human patients affected by other syndromes.      

New method for laboratory detection of AmpC beta-lactamases in Escherichia coli and Klebsiella pneumoniae

A new cefoxitin-agar medium (CAM)-based assay was compared to the previously published modified three-dimensional (M3D) assay for the detection of AmpC production in Escherichia coli and Klebsiella pneumoniae. Clinical isolates of cefoxitin-resistant E. coli (n = 5) and K. pneumoniae (n = 7) and multiple control strains with and without AmpC enzymes were tested by both methods. The CAM method with 4 microg of cefoxitin/ml was equivalent to the M3D method for detecting AmpC production in E. coli and K. pneumoniae. This new method is easier to perform and interpret and allows for testing of multiple isolates on a single plate.     

Alterations in the Proportions of Skeletal Muscle Proteins following a Unilateral Lesion to the Substantia Nigra Pars Compacta of Rats

It is well established that mammalian skeletal muscles exhibit a considerable degree of plasticity and one of the main determining factors of this plasticity is the activity pattern and duration of motoneurone discharge. Lesions to the right substantia nigra pars compacta (SNpc) of six adult rats were made to determine whether altered output from the SNpc ultimately leads to a change in the expression of proteins in contralateral skeletal muscles. After 4 months, altered motor performance was identified by the administration of amphetamine. After 7 months, 30–70% of dopaminergic cells in the SNpc had been destroyed. The protein content of muscles was then quantified from densitometric scans of gels, and expressed as a % of the amount of actin (the protein used as a reference in this study). The lesion affected the expression of different protein isoforms in the fast- and slow-twitch muscles. In slow-twitch soleus muscles, the lesion decreased the proportion of α-tropomyosin and increased the proportion of β-tropomyosin. In the fast-twitch extensor digitorum longus muscles, the lesion increased the proportion of the fast isoform of troponin-T_1f, and decreased the proportions of the two isoforms of myosin light chain. This study establishes a connection between the chronic effects of a lesion to the SNpc, with a loss of dopaminergic neurones, impaired motor performance, and altered expression of proteins in skeletal muscle. The implication of these results is that the altered motor function observed in Parkinson’s disease may be associated with alterations to the expression of skeletal muscle proteins. Supported by grants from NH & MRC (DF) and Faculty of Health Sciences, LaTrobe University (PD).     

Treatment of infections caused by metallo-β-lactamase-producing Pseudomonas aeruginosa in the Calgary Health Region

This study reviewed 56 patients with significant metallo-beta-lactamase (MBL)-producing Pseudomonas aeruginosa infections between May 2002 and March 2004 to identify features associated with mortality. Immunosuppression (p 0.002), bacteraemia (p 0.08) and inadequate antimicrobial therapy (p <0.001) were associated with death. Among those patients treated with adequate therapy, the use of multiple drug treatment regimens (two or three active agents) was associated with a non-significant two-fold increase in survival (p 0.45). Further prospective studies are warranted to determine the optimal treatment of MBL-producing P. aeruginosa infections.     

Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant

Missense mutations in the presenilin 2 (PS-2) gene on chromosome 1 were sought by direct nucleotide sequence analysis of the open reading frame of 60 pedigrees with familial Alzheimer's disease (FAD). In the majority of these pedigrees, PS-1 and beta-amyloid precursor protein (beta APP) gene mutations had been excluded. While no additional PS-2 pathogenic mutations were detected, four silent nucleotide substitutions and alternative splicing of nucleotides 1338-1340 (Glu325) were observed. Analysis of additional members of a pedigree known to segregate a Met239Val mutation in PS-2 revealed that the age of onset of symptoms is highly variable (range 45-88 years). This variability is not attributable to differences in ApoE genotypes. These results suggest (i) that, in contrast to mutations in PS-1, mutations in PS-2 are a relatively rare cause of FAD; (ii) that other genetic or environmental factor modify the AD phenotype associated with PS-2 mutations; and (iii) that still other FAD susceptibility genes remain to be identified.      

Microglia activation in sepsis: a case-control study

Background  

infection induces an acute phase response that is accompanied by non-specific symptoms collectively named sickness behavior. Recent observations suggest that microglial cells play a role in mediating behavioral changes in systemic infections. In animal models for sepsis it has been shown that after inducing lipopolysaccharide, LPS, microglia in the brain were activated. The aim of this study was to investigate whether activation of microglia can be detected in patients who died of sepsis.