Evaluation of a rapid test for the diagnosis of pneumococcal pneumonia.

We evaluated the usefulness of a rapid immunochromatographic pneumococcal urinary antigen test (UAT) for the diagnosis of pneumonia over a period of five years. The UAT was positive in 32 (2.3%) urine samples obtained from 1414 patients. In 46 of these 1414 patients results of UAT and/or sputum/pleural fluid culture and/or blood culture and/or procalcitonin levels were available and therefore the study was concentrated on these patients. A concordance between UAT positivity and the presence of Streptococcus pneumoniae in the sputum was observed in only 4 of 46 (8.7%) patients for which both urine and sputum samples were analyzed. A discordant result (UAT positive and absence of S. pneumoniae in sputum samples) was recorded in 8 of 46 (17.4 %) patients. UAT negative results with sputum culture positive for S. pneumoniae were recorded in 28.3% of patients. In 20 patients, UAT tested positive but sputum culture was not performed. A concordance between UAT positivity and the isolation of S. pneumoniae from blood was seen in 2 of 46 patients whereas a discordant result (UAT positive and blood culture negative) was seen in 12 (26.1%) patients. A concordance between the UAT and high levels (≥2ng/ml) of procalcitonin was observed in 4 out of 46 patients, whereas a positive UAT result and a procalcitonin negative result were observed in 2 patients. In our experience the UAT allows the detection of the etiological agent of pneumonia, and also when sputum and/or blood cultures are negative for S. pneumoniae, when the clinical picture is suggestive of alveolar pneumonia.

Lateral thoracic artery embolization in cystic fibrosis.

We report the embolization of an aberrant origin of haemoptysis - from the internal branch of the lateral thoracic artery - in a patient affected by cystic fibrosis. The technical implications for embolotheraphy in case of an aberrant origin of a haemorrhage are emphasized. Many different systemic arteries may contribute to the blood supply of the lung and many connections may exist between the systemic, bronchial and pulmonary circulations. The presence of non-bronchial systemic arteries supply should be investigated when inconclusive findings are seen during bronchial artery embolization for haemoptysis.

MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.

Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors.

Treatment of heterozygous familial hypercholesterolemia: atorvastatin vs simvastatin.

BACKGROUND AND AIM: This study compares the cholesterol-lowering efficacy of atorvastatin and simvastatin in attainment of the National Cholesterol Education Program (NCEP) guidelines LDL-cholesterol (LDL-C) goal in patients with heterozygous familial hypercholesterolemia (HFH). The association of atorvastatin with significant changes of blood fibrinogen and other coagulative variables was also compared with that of simvastatin. METHODS AND RESULTS: In a 24-week study, 26 HFH patients (16 men, 10 women, mean age 55.1 +/- 11.3) were randomly assigned to receive atorvastatin or simvastatin. The initial daily dose of 10 mg was progressively raised to 20, 40 and 80 mg in patients who had not reached the NCEP LDL-C goal. Significant reductions of total and LDL-C (p < 0.001), triglycerides (p < 0.005) and apoB100 (p < 0.001) were observed in both groups. Atorvastatin caused greater reductions in total cholesterol (-42% vs -30%) (p < 0.001) and LDL-C (-50% vs -37%) (p < 0.01). Three patients treated with Atorvastatin (23%) and none of those treated with simvastatin reached the NCEP LDL-C goal at the end of the study. No significant departures from the fibrinogen and coagulative variable baselines were observed. CONCLUSIONS: Atorvastatin has greater cholesterol-lowering efficacy than simvastatin in HFH.

Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

Rett syndrome is an X-linked dominant neurological disorder, which appears to be the commonest genetic cause of profound combined intellectual and physical disability in Caucasian females. Recently, this syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of still unknown target genes. Here we report a detailed mutational analysis of 62 patients from UK and Italian archives, representing the first comparative study among different populations and one of the largest number of cases so far analyzed. We review the literature on MECP2 mutations in Rett syndrome. This analysis has permitted us to produce a map of the recurrent mutations identified in this and previous studies. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, which is conserved among brain-specific regulatory factors.

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.

Human sex chromosomes, which are morphologically and genetically different, share few regions of homology. Among them, only pseudoautosomal regions (PARs) pair and recombine during meiosis. To better address the complex biology of these regions, we sequenced the telomeric 400 kb of the long arm of the human X chromosome, including 330 kb of the human Xq/YqPAR and the telomere. Sequencing reveals subregions with distinctive regulatory and evolutionary features. The proximal 295 kb contains two genes inactivated on both the inactive X and Y chromosomes [ SYBL1 and a novel homologue ( HSPRY3 ) of Drosophila sprouty ]. The GC-rich distal 35 kb, added in stages and much later in evolution, contains the X/Y expressed gene IL9R and a novel gene, CXYorf1, only 5 kb from the Xq telomere. These properties make Xq/YqPAR a model for studies of region-specific gene inactivation, telomere evolution, and involvement in sex-limited conditions.

Human and mouse SYBL1 gene structure and expression.

SYBL1 is a gene in the 320kb human pseudo-autosomal region at the terminus of Xq and Yq. In contrast to other pseudoautosomal genes, SYBL1 is inactivated on one X in every female cell, and is also inactive on the Y of male cells. Hypermethylation of the CpG island associated with the human gene is involved in this phenomenon. In an attempt to further examine its regulation, the genomic organization of the X-linked mouse Sybl1 homolog was analyzed and compared with the human gene. Human and mouse show the same exon number, exon-intron junctions and a highly conserved basal promoter. The structural and functional conservation of basal regulatory regions suggests that inactivation is imposed by similar auxiliary epistatic regulatory mechanism.

[Potential role of gravity in computerized tomography in neoplasms]. / Possibili ruoli delle forze gravitazionali nelle indagini con Tomografia Computerizzata in oncologia.

PURPOSE: The possible evolution of the usual CT signs in oncology makes the logical premise of our experience. Our goal was to transform instrumental findings in information richer in clinical yield, in compliance with the guidelines of the National Cancer Institute (Bethesda, Md, USA). MATERIAL AND METHODS: Our study was developed over a 3-year period and involved 432 selected patients with primary neoplasms. The lesions were in pulmonary, gastroenteric and genitourinary sites and stages differed (T2/T3, N0/N3, M0/M1); the Karnofsky score ranged 60-90. We integrated the tumor staging obtained with CT with gravitational tests by means of simple changes in the position of forced decubitus resulting in procubitus and triclinium-like positions (right and left lateral decubitus). We restudied only the cT class of each lesion, looking for a better depiction of the lesion-adjacent, fat, and compared the results the examinations in the standard versus the modified decubitus. Judgements were relative to the technical quality of the modified examination and to the potential impact of these findings on the following pTNM staging. RESULTS: In our 432 patients and only relative to the cT parameter, CT with standard decubitus correctly staged 312 lesions (mean accuracy: 72.2%) versus 352 for CT with modified decubitus (mean accuracy: 81.5%). Improvements were more marked in gastric (22.9% of 48 cases), vesical (23% of 26 cases) and colic (22.3% of 76 cases) lesions, and less marked in pulmonary (10.6% of 132 cases), ovarian (14% of 71 cases) and endometrial (17.1% of 70 cases) lesions. The routine application of pTNM verifications to CT staging helped show the most frequent causes of cTNM mistaging in solid lesions which, in most of the T2/T3 classes, involve the direct spread to an adjacent organ and the depth of invasion of adjacent structures. CONCLUSIONS: The combination and comparison of cTNM with pTNM are useful not only for final tumor staging but also to assess the pretreatment diagnostic accuracy of CT studies. Introducing gravitational tests and reading examinations in pairs improved lesion location, which is the most important technical information for subsequent prognosis and treatment and can help decrease pre-/post-treatment management costs.

[Acute abdomen secondary to autoimmune vasculitis in systemic lupus erythematosus. Case report]. / Addome acuto da vasculite autoimmune in corso di lupus eritematoso sistemico. Descrizione di un caso clinico.

The authors report the case of a female patient suffering from systemic lupus erythematosus who was referred to their attention with symptoms of acute abdomen due to gangrenous appendicitis following autoimmune vasculitis.

Screening for congenital renovascular hypoplasia and renal artery stenosis by acute converting enzyme inhibition.

To evaluate the usefulness of the captopril test for identifying renal artery stenosis (RAS) and renovascular hypoplasia (RAH), we studied 48 hypertensive patients. In 20 hypertensives with screening procedures indicating renovascular disease and in 28 essential hypertensives (EH), the plasma renin activity (PRA) responses to an oral test dose of captopril (50 mg) were studied. A 60-min post-captopril PRA increase of 150% (or 400% if baseline PRA < or = 3 ng/ml/h) was considered as positive. Renal angiography was performed in all cases. Among the 20 renovascular hypertensive patients, RAH in 9 and RAS in 11 subjects were proved by angiography. The captopril test in all patients with RAH resulted negative (mean PRA increase 50%); furthermore, the test identified 7 of the 11 RAS (mean PRA increase 477.6%); sensitivity and specificity for RAS were 64 and 88.8%, respectively. In the EH group, there were 3 false-positive subjects (mean PRA increase 122%). This study demonstrates that the PRA responses to a test dose of captopril are a useful screening test for distinguishing RAH from RAS, and for identifying the latter in hypertensive patients. These data also suggest that in subjects with RAH, hypertensive disease may not renin dependent.

Approach to ultrasound in oncology.

In a multicenter investigation carried out in 13,590 patients, 85 primitive and secondary abdominal neoplastic lesions were detected, the incidence being 0.6%. On the basis of this investigation, the role of ultrasonography in the clinical diagnosis, staging, and follow-up of oncologic diseases is summarized. Ultrasonography is employed for three basic steps in the staging of neoplastic lesions: 1. detection of lesions, 2. diagnosis of their nature, 3. balance of extension (TNM). Ultrasonography provides a lower diagnostic accuracy than CT and MRI as the balance of extension is concerned, but it yields reliable results for the diagnosis of malignancy if completed by ultrasonography guided percutaneous biopsy. The possibility of ultrasonography in the follow-up of neoplastic lesions and its applications in the treatment of some tumors are discussed.

Gold storage in the liver: appearance on CT scans.

The authors present one case in which high attenuation values in the liver parenchyma on computed tomographic scans were found in a patient who had been previously treated with colloidal gold for rheumatoid arthritis. Reticuloendothelial storage of gold was proved by biopsy.

[Quantitative evaluation of the phase image in radionuclide ventriculography ]. / Valutazione quantitativa dell'immagine di fase nella ventricolografia radionuclidica.

A functional image is a representation that enhances a particular characteristic of organ behaviour (feature enhancement) with a concomitant reduction or elimination of other informations. The functional image of phase (PI), obtained by Fourier analysis, may be interpreted to represent the onset of counts reduction or contraction in each region of the heart. Phase Spreading (PS), is a parameter derived from PI and represents ventricular temporal behaviour including some spatial information. Phase analysis and PS are very sensitive tools in the diagnosis and characterization of cardiac pathology. PS is a specific indicator of CAD, allows the introduction of normal ranges and is an example of quantitative evaluation of functional images.