Difficult diagnosis of atypical kawasaki disease in an infant younger than six months: a case report.

BACKGROUND: Kawasaki disease (KD) is an acute inflammatory vasculitis of unknown origin. CASE PRESENTATION: We report the case of a 5-month-old child with an atypical form of KD, characterized by undulating symptoms, who developed an aneurysm of the right coronary artery and an ectasia of the left anterior descending coronary artery. CONCLUSION: This case report underlines the difficulties in recognizing incomplete forms of the illness in young infants, who are at higher risk of cardiac complications.

Virological and clinical characterization of respiratory infections in children attending an emergency department during the first autumn-winter circulation of pandemic A (H1N1) 2009 influenza virus.

To characterize respiratory virus infections during the first autumn-winter season of pandemic A (H1N1) 2009 influenza virus (A/H1N1/2009) circulation, a prospective study in children attending a paediatric emergency department at the Sapienza University hospital, Rome, was conducted from November 2009 to March 2010. By means of both nasal washings and pharyngeal swabs, enrolled children were checked for 14 respiratory viruses. The majority of acute respiratory infections resulted from viral pathogens (135/231, 58%). Overall, the most common was respiratory syncytial virus (RSV), in 64% of positive samples; A/H1N1/2009 was the only influenza virus found in 16% and rhinovirus (RV) in 15%. Virus-positive children did not differ significantly from virus-negative children in signs and symptoms at presentation; of the virus groups, RSV-infected children were younger and more frequently admitted to intensive-care units than those infected with A/H1N1/2009 and RV. Of the hospitalized children, stratified by age, both infants and children aged >1 year with RSV were most severely affected, whereas A/H1N1/2009 infections were the mildest overall, although with related pulmonary involvement in older children. Children with RV infections, detected in two flares partially overlapping with the A/H1N1/2009 and RSV peaks, presented with bronchiolitis, wheezing and pneumonia. Leukocytosis occurred more frequently in RV-infected and A/H1N1/2009-infected children, and numbers of blood eosinophils were significantly elevated in RV-infected infants. Given the fact that clinical and epidemiological criteria are not sufficient to identify viral respiratory infections, a timely virological diagnosis could allow different infections to be managed separately.

Rhinovirus bronchiolitis and recurrent wheezing: 1-year follow-up.

The association between bronchiolitis and recurrent wheezing remains controversial. In this prospective study, we assessed risk factors for recurrent wheezing during a 12-month follow-up in 313 infants aged <12 months hospitalised for their first episode of bronchiolitis. Demographic, clinical and laboratory data were obtained with a questionnaire and from medical files. A total of 14 respiratory viruses were concurrently assayed in nasal washings. Parents were interviewed 12 months after hospitalisation to check whether their infants experienced recurrent wheezing. The rate of recurrent wheezing was higher in infants with bronchiolitis than in controls (52.7 versus 10.3%; p<0.001). Multivariate analysis identified rhinovirus (RV) infection (OR 3.3, 95% CI 1.0-11.1) followed by a positive family history for asthma (OR 2.5, 95% CI 1.2-4.9) as major independent risk factors for recurrent wheezing. In conclusion, the virus most likely to be associated with recurrent wheezing at 12 months after initial bronchiolitis is RV, a viral agent that could predict infants prone to the development of recurrent wheezing.

[First aid and defibrillation in the workplace: a helpful decision for the public]. / O soccorso e defibrillazione precoce nei luoghi di lavoro: scelta di pubblica utilità.

Immediate activation of the chain of survival and the CPR training of the lay population, including prompt use of a semiautomatic defibrillator (AED), has been amply shown to reduce mortality due to cardiac arrest, which causes 60,000 deaths per year in Italy alone. This paper proposes a revision of the Italian regulation D.M. 388/03 on First Aid (FA), starting from the assumption that action in the workplace significantly improves the safety not only of workers but of citizens as a whole, especially in places attended by large numbers of people. The proposals, reflecting the recent regulation on early defibrillation, are based on field work done by the ISPESL Training Center (actually merged in INAIL), in cooperation with other institutions, and on a review of the literature and international guidelines. New training models have been tested and introduced in company FA systems, with fresh course content for FA workers and instructors.

Detection of respiratory viruses in the 2009 winter season in Rome: 2009 influenza A (H1N1) complications in children and concomitant type 1 diabetes onset.

We investigated clinical characteristics and complications, particularly type 1 diabetes onset, in children hospitalized for 2009 pandemic influenza A (H1N1) virus and compared number of consultations, rate of hospitalization and virus identification in children hospitalized for acute respiratory symptoms (ARS) during the winter season 2009-2010 and 2004-2005. Patients were tested for 2009 H1N1 virus and 14 respiratory viruses on pharyngeal brush/nasal aspirates, using a RT-PCR or nested PCR assays. Consultations and hospitalizations were extracted from operative system GIPSE. The total number of consultations increased by 12%, consultation rate for ARS by 13% and number of hospitalizations by 56% from 2004-2005 to 2009-2010. In 2004-2005, Influenza A virus was identified in only 7 percent of hospitalized children, while in 2009-2010 the 2009 H1N1 virus was identified in 21%. Three children attending the hospital for ARS and 2009 H1N1 infection had ketoacidosis as the onset manifestation of type 1 diabetes. By comparing the number of new diabetes diagnoses among the two winter seasons, we found a higher number of new diagnoses in October 2009-January 2010 than in the same period in 2004-2005 (19 vs 10). Six children (13%), all presenting with pre-existing diseases, were admitted to the pediatric intensive care unit. No children died. The outbreak of this novel virus has increased pediatric consultation rates and hospitalizations compared with previous winters without causing deaths. The children at highest risk for severe infection are those with comorbidities. The 2009 H1N1 virus seems in some way involved in the pathogenesis of type 1 diabetes.

[Psycho-physical fatigue in hospital personnel and intervention of the occupational physician]. / L'affaticamento psico-fisico nelle lavoratrici ospedaliere e l'intervento del medico del lavoro.

Fatigue is a topical subject that slips an univocal classification. That is because it involves the whole organism with its physiological components (Autonomous Nervous System, biochemical parameters...), as well as the affective, cognitive, and behaviour components. The Authors investigate fatigue as an emotion. Emotion is a research object that unifies all these different aspects. Throughout a qualitative research, over a sample of female hospital workers, they try to explain the complexity of this emotion. Trigger factors and, at the same time, inhibition factors are, on the one hand, the traditional ones such as shiftwork or number of years in office. On the other hand, important factors emerged: the satisfaction at work; the lack of control over some aspects of work (management and organization); the health work itself( experience of illness and death, relationship with patients and their relatives); the fatigue of "keeping in mind" the worker's own family and sons. The elaboration of these topics, done by the same workers as well as managers and occupational health and safety services, could allow to treat in a more efficient way "fatigue at work" and its effects in individuals, groups and organizations.

[Occupational medicine and new risks]. / La medicina del lavoro e i nuovi rischi.

Technological and socio-economic changes in the world of work are having a strong impact on the life of individuals and organizations. Individuals expect security, a feeling of belonging, and recognition; organizations constantly demand more flexibility, participation and productivity. Inside this growing gap we find today's new risks: they reflect at-risk work settings, where organizational "discomfort" is most likely to develop. Against this backdrop, dominated by a feeling of precariousness, workers have to re-visualize their jobs. This is a complicated and tiring process, as they have to demolish the old models they already have in their minds, so they can replace them with new, more appropriate ones. Occupational medicine has a role on two levels in this process. The first, close to the workers themselves, calls for the ability to understand the new risks, interpreting them in relation to the organizational settings. The second involves a path within the discipline, crossing over the first role but in the opposite direction to the usual one: from the dominant model of medicine by classification to reinstatement of the clinical dimension. This attributes importance to a research approach to problems, and calls for the construction of networks both within occupational medicine and between disciplines.

Alternative promoters drive the expression of the gene encoding the mouse axonal glycoprotein F3/contactin.

F3/Contactin is a neuronal glycoprotein which mediates axonal growth control via complex interactions with a number of cell surface or matrix components. As part of this developmental role, its expression undergoes differential regulation during the maturation of definite neuronal populations within the central and peripheral nervous tissue. To elucidate the underlying molecular mechanisms we study here the organization of the regulatory region of the mouse F3/Contactin gene. We show that this region displays peculiar features in that it spans more than 80 kb, bears very large introns and includes four untranslated exons which undergo complex splicing events leading to 11 potential arrangements of the F3/Contactin mRNA 5' end. Within this region we identify three alternative neurospecific promoters which, as deduced from the developmental profile of the associated 5' exons (A1,C1,0), drive two different patterns of F3/Contactin gene expression. The activity of the A1 exon-associated promoter displays only minor developmental changes and is likely to contribute to the basal level of the F3/Contactin gene expression; by contrast, the activities of the exon C1- and exon 0-associated promoters are significantly upregulated at the end of the first postnatal week. The data indicate that differential regulation of the F3/Contactin expression during development may depend upon alternative utilization of distinct promoter elements and may involve complex splicing events of the 5' untranslated exons. Several consensuses for homeogene transcription factors are scattered within the identified regulatory region, in agreement with the general assumption of homeotic gene regulation of neural morphoregulatory molecules.

Surface display of recombinant proteins on Bacillus subtilis spores.

We developed a novel surface display system based on the use of bacterial spores. A protein of the Bacillus subtilis spore coat, CotB, was found to be located on the spore surface and used as fusion partner to express the 459-amino-acid C-terminal fragment of the tetanus toxin (TTFC). Western, dot blot and fluorescent-activated cell sorting analyses were used to monitor TTFC surface expression on purified spores. We estimated that more than 1.5 x 10(3) TTFC molecules were exposed on the surface of each spore and recognized by TTFC-specific antibodies. The efficient surface presentation of the heterologous protein, together with the simple purification procedure and the high stability and safety record of B. subtilis spores, makes this spore-based display system a potentially powerful approach for surface expression of bioactive molecules.

[Benign maxillofacial mucormycosis. Report of a case and review of the literature]. / Mucormicosi maxillo-facciale benigna. Descrizione di un caso e revisione della letteratura.

Mucormycosis is a rare and often lethal infection caused by an opportunistic fungus of the Phycomycetes class. This microorganism is a saprophytic aerobial fungus common in nature and in oral mucosae, nose, paranasal sinus and throat. Mucormycosis has been described in various clinical forms: rhinocerebral, pulmonary, systemic, cerebral and cutaneous, always in immunodepressed patients, with rapid evolution and high rate of mortality. However, rare cases involving maxillofacial area are described in healthy patients with benign evolution and good prognosis as in a case observed at the Department of Maxillofacial Surgery of the University of Naples "Federico II".

Functional organization of the promoter region of the mouse F3 axonal glycoprotein gene.

F3 is a developmentally regulated adhesive glycoprotein expressed by subpopulations of central and peripheral neurons which mediates neurite growth and fasciculation via cis- and trans-interactions with cell-surface or matrix components. We previously reported on the characterization of the F3 gene 5' flanking region in which we identified promoter and enhancer elements. Here, we report on the functional organization of the F3 gene regulatory regions. We show that the F3 promoter is built of linearly arranged positive and negative elements scattered through the 5' flanking region of the F3 gene and the 1st exon (exon 0). Neural- and cell type-specific expression of F3 appears to be governed by elements located in the most proximal promoter region which includes a neural-specific enhancer. In retardation assays, all these cis-acting elements bind nuclear proteins, three of which interact with the identified enhancer element while a single species interacts with sequences located within exon 0. Some of these proteins are also specifically expressed within the brain, indicating that they could correspond to neural-specific trans-acting factors. Elements located immediately upstream of the cell type-specific enhancer and within exon 0 are responsible for regulation of F3 expression by cAMP and retinoic acid.

Characterization of the 5' and promoter regions of the gene encoding the mouse neuronal cell adhesion molecule F3.

F3 is a 135 kDa neuronal cell surface adhesive glycoprotein belonging to the immunoglobulin supergene family (IgSF) which mediates heterophilic contact formation among neural cells and is involved in the control of neurite growth. F3 expression is regulated, during critical developmental periods, on neuronal subpopulations thus suggesting that control of F3 gene expression could be of morphogenetic relevance. To shed light on the mechanism involved in the control of F3 gene expression we isolated clones covering about 50 kilobases of the F3 gene which also included the promoter region. The study of F3 gene exon/intron organization revealed that, like other neural IgSF molecules, each of the first two F3 C2 domains is encoded by two exons while the N-terminus, the signal peptide and the 5' untranslated region are each encoded by distinct exons. A single transcription start site was identified, surrounded by a short 114 bp sequence able to direct reporter gene expression in both F3-expressing and -non-expressing cells. In addition, a cell type-specific enhancer, only active in F3-expressing cells, was found immediately upstream to it. Structural analysis of the promoter region revealed consensus sequences for binding transcription factors involved in cell type-specific and/or developmental regulations. Most of them are homeobox containing transcription factors thus suggesting that regulation of F3 gene expression could be part of a large developmental program.

Repetitive DNA sequences located in the terminal portion of the Caenorhabditis elegans chromosomes.

We describe the distribution along the chromosomes of Caenorhabditis elegans of two repetitive DNA families, RcS5 and Cerep3 and interstitial telomeric sequences. Both families show, among other interesting features, a preferential location in the terminal 30% of the chromosomes. It is known that in these regions of the genome the frequency of recombination is much higher than in the central portion, genes are rarer and sequences important for chromosome disjunction may lie.

Molecular and genomic organization of clusters of repetitive DNA sequences in Caenorhabditis elegans.

Repetitive sequences in Caenorhabditis elegans are interspersed along the holocentric chromosomes. We have physically mapped some of these repetitive families and found that, although the distribution of members of each family is relatively even along the chromosomes, members of more than one family tend to cluster in some locations. We compared the sequence organization of 11 clusters located at known positions on different chromosomes in the N2 strain. These studies allow a comparison between repetitive elements belonging to the same family that are located on the same or on different chromosomes, providing an important tool in the study of genome turnover and evolution.

Use of repetitive DNA probes as physical mapping strategy in Caenorhabditis elegans.

A method for linking genomic sequences cloned in yeast artificial chromosomes (YACs) has been tested using Caenorhabditis elegans as a model system. Yeast clones carrying YACs with repeated sequences were selected from a C. elegans genomic library, total DNA was digested with restriction enzymes, transferred to nylon membranes and probed with a variety of repetitive DNA probes. YAC clones that overlap share common bands with one or more repetitive DNA probes. In 159 YAC clones tested with one restriction enzyme and six probes 28 overlapping clones were detected. The advantages and limitations of this method for construction of YAC physical maps is discussed.

Synthesis of some 3-hydroxy-5-aminopentanoic acid derivatives.

The 5-amino analogues of mevalonic acid and mevalonolactone, 5-amino-3-hydroxy-3-methylpentanoic acid (VII a) and 4-hydroxy-4-methyl-2-piperidone (III a), and some related compounds were synthesized as possible inhibitors of cholesterol biosynthesis. None of them was found effective on the synthesis of cholesterol in rat liver slices and on HMG-CoA reductase activity in vitro, but 4-hydroxy-4-(4-chlorophenyl)-2-piperidone (III b) raised high density lipoproteins (HDL) in normolipaemic rats.