High-Performance Liquid Chromatography Under Partially Denaturing Conditions (dHPLC) is a Fast and Cost-Effective Method for Screening Molecular Defects: Four Novel Mutations Found in X-Linked Chronic Granulomatous Disease

Implementing precise techniques in routine diagnosis of chronic granulomatous disease (CGD), which expedite the screening of molecular defects, may be critical for a quick assumption of patient prognosis. This study compared the efficacy of single-strand conformation polymorphism analysis (SSCP) and high-performance liquid chromatography under partially denaturing conditions (dHPLC) for screening mutations in CGD patients. We selected 10 male CGD patients with a clinical history of severe recurrent infections and abnormal respiratory burst function. gDNA, mRNA and cDNA samples were prepared by standard methods. CYBB exons were amplified by PCR and screened by SSCP or dHPLC. Abnormal DNA fragments were sequenced to reveal the nature of the mutations. The SSCP and dHPLC methods showed DNA abnormalities, respectively, in 55% and 100% of the cases. Sequencing of the abnormal DNA samples confirmed mutations in all cases. Four novel mutations in CYBB were identified which were picked up only by the dHPLC screening (c.904 insC, c.141+5 g>t, c.553 T>C, and c.665 A>T). This work highlights the relevance of dHPLC, a sensitive, fast, reliable and cost-effective method for screening mutations in CGD, which in combination with functional assays assessing the phagocyte respiratory burst will contribute to expedite the definitive diagnosis of X-linked CGD, direct treatment, genetic counselling and to have a clear assumption of the prognosis. This strategy is especially suitable for developing countries.

FLOWS OF INFORMATION AND LANGUAGE IN ORGANIZATIONAL SETTINGS

Information flows are formed naturally or formally induced in organizational settings, passing from the strategic level to operational level, reflecting, and impacting in the processes that make up the organization, including the decision-making process and therefore the action strategies of organization. The management of organizational environments based on information requires careful attention to various kinds of languages used for communication between sectors and employees of the organization, whose goal is to share, disseminate and socialize the information produced in this environment.

Motor Neuron Disease and Acquired Axonal Neuropathy Association in HIV Infection: Case Report and Update

Background: A possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis Syndrome, Motor Neuron Diseases and peripheral neuropathies. Objective: To report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology. Methods: The patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies. Results and Discussion: The initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission. Conclusion: Motor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Tráfego veicular e mortalidade por doenças do aparelho circulatório em homens adultos

OBJETIVO: Analisar a associação entre indicadores de exposição à poluição por tráfego veicular e mortalidade por doenças do aparelho circulatório em homens adultos. MÉTODOS: Foram analisadas informações sobre vias e volume de tráfego no ano de 2007 fornecidas pela companhia de engenharia de tráfego local. Mortalidade por doenças do aparelho circulatório no ano de 2005 entre homens ≥ 40 anos foram obtidas do registro de mortalidade do Programa de Aprimoramento de Informações de Mortalidade do Município de São Paulo, SP. Dados socioeconômicos do Censo 2000 e informações sobre a localização dos serviços de saúde também foram coletados. A exposição foi avaliada pela densidade de vias e volume de tráfego para cada distrito administrativo. Foi calculada regressão (α = 5%) entre esses indicadores de exposição e as taxas de mortalidade padronizadas, ajustando os modelos para variáveis socioeconômicas, número de serviços de saúde nos distritos e autocorrelação espacial. RESULTADOS: A correlação entre densidade de vias e volume de tráfego foi modesta (r² = 0,28). Os distritos do centro apresentaram os maiores valores de densidade de vias. O modelo de regressão espacial de densidade de vias indicou associação com mortalidade por doenças do aparelho circulatório (p = 0,017). Não se observou associação no modelo de volume de tráfego. Em ambos os modelos – vias e volume de tráfego (veículos leves/pesados) – a variável socioeconômica foi estatisticamente signifi cante. CONCLUSÕES: A associação entre mortalidade por doenças do aparelho circulatório e densidade de vias converge com a literatura e encoraja a realização de mais estudos epidemiológicos em nível individual e com métodos mais acurados de avaliação da exposição.

Vehicle emissions and PM2.5 mass concentrations in six Brazilian cities

In Brazil, the principal source of air pollution is the combustion of fuels (ethanol, gasohol, and diesel). In this study, we quantify the contributions that vehicle emissions make to the urban fine particulate matter (PM2.5) mass in six state capitals in Brazil, collecting data for use in a larger project evaluating the impact of air pollution on human health. From winter 2007 to winter 2008, we collected 24-h PM2.5 samples, employing gravimetry to determine PM2.5 mass concentrations; reflectance to quantify black carbon concentrations; X-ray fluorescence to characterize elemental composition; and ion chromatography to determine the composition and concentrations of anions and cations. Mean PM2.5 concentrations in the cities of Sao Paulo, Rio de Janeiro, Belo Horizonte, Curitiba, Porto Alegre, and Recife were 28, 17.2, 14.7, 14.4, 13.4, and 7.3 mu g/m(3), respectively. In Sao Paulo and Rio de Janeiro, black carbon explained approximately 30% of the PM2.5 mass. We used receptor models to identify distinct source-related PM2.5 fractions and correlate those fractions with daily mortality rates. Using specific rotation factor analysis, we identified the following principal contributing factors: soil and crustal material; vehicle emissions and biomass burning (black carbon factor); and fuel oil combustion in industries (sulfur factor). In all six cities, vehicle emissions explained at least 40% of the PM2.5 mass. Elemental composition determination with receptor modeling proved an adequate strategy to identify air pollution sources and to evaluate their short- and long-term effects on human health. Our data could inform decisions regarding environmental policies vis-a-vis health care costs.

Motor learning, retention and transfer after virtual-reality-based training in Parkinson's disease - effect of motor and cognitive demands of games: a longitudinal, controlled clinical study

Objectives To evaluate the learning, retention and transfer of performance improvements after Nintendo Wii Fit (TM) training in patients with Parkinson's disease and healthy elderly people. Design Longitudinal, controlled clinical study. Participants Sixteen patients with early-stage Parkinson's disease and 11 healthy elderly people. Interventions Warm-up exercises and Wii Fit training that involved training motor (shifts centre of gravity and step alternation) and cognitive skills. A follow-up evaluative Wii Fit session was held 60 days after the end of training. Participants performed a functional reach test before and after training as a measure of learning transfer. Main outcome measures Learning and retention were determined based on the scores of 10 Wii Fit games over eight sessions. Transfer of learning was assessed after training using the functional reach test. Results Patients with Parkinson's disease showed no deficit in learning or retention on seven of the 10 games, despite showing poorer performance on five games compared with the healthy elderly group. Patients with Parkinson's disease showed marked learning deficits on three other games, independent of poorer initial performance. This deficit appears to be associated with cognitive demands of the games which require decision-making, response inhibition, divided attention and working memory. Finally, patients with Parkinson's disease were able to transfer motor ability trained on the games to a similar untrained task. Conclusions The ability of patients with Parkinson's disease to learn, retain and transfer performance improvements after training on the Nintendo Wii Fit depends largely on the demands, particularly cognitive demands, of the games involved, reiterating the importance of game selection for rehabilitation purposes. (C) 2012 Chartered Society of Physiotherapy. Published by Elsevier Ltd. All rights reserved.

A Unitary Approach to Information and Estimation Theory in Digital Communication Systems

This thesis presents the outcomes of a Ph.D. course in telecommunications engineering. It is focused on the optimization of the physical layer of digital communication systems and it provides innovations for both multi- and single-carrier systems. For the former type we have first addressed the problem of the capacity in presence of several nuisances. Moreover, we have extended the concept of Single Frequency Network to the satellite scenario, and then we have introduced a novel concept in subcarrier data mapping, resulting in a very low PAPR of the OFDM signal. For single carrier systems we have proposed a method to optimize constellation design in presence of a strong distortion, such as the non linear distortion provided by satellites' on board high power amplifier, then we developed a method to calculate the bit/symbol error rate related to a given constellation, achieving an improved accuracy with respect to the traditional Union Bound with no additional complexity. Finally we have designed a low complexity SNR estimator, which saves one-half of multiplication with respect to the ML estimator, and it has similar estimation accuracy.

Information and communication technologies nella gestione integrata del diabete mellito: stato dell'arte, progetto Metabo come caso di studio

Il Diabete, modello paradigmatico delle malattie croniche, sta assumendo negli ultimi anni le proporzioni di una pandemia, che non ha intenzione di arrestarsi, ma del quale, con l’aumento dei fattori di rischio, aumentano prevalenza e incidenza. Secondo stime autorevoli il numero delle persone con diabete nel 2035 aumenterà fino a raggiungere i 382 milioni di casi. Una patologia complessa che richiede lo sforzo di una vasta gamma di professionisti, per ridurre in futuro in maniera significativa i costi legati a questa patologia e nel contempo mantenere e addirittura migliorare gli standard di cura. Una soluzione è rappresentata dall'impiego delle ICT, Information and Communication Technologies. La continua innovazione tecnologica dei medical device per diabetici lascia ben sperare, dietro la spinta di capitali sempre più ingenti che iniziano a muoversi in questo mercato del futuro. Sempre più device tecnologicamente avanzati, all’avanguardia e performanti, sono a disposizione del paziente diabetico, che può migliorare tutti processi della cura, contenendo le spese. Di fondamentale importanza sono le BAN reti di sensori e wearable device, i cui dati diventano parte di un sistema di gestione delle cure più ampio. A questo proposito METABO è un progetto ICT europeo dedicato allo studio ed al supporto di gestione metabolica del diabete. Si concentra sul miglioramento della gestione della malattia, fornendo a pazienti e medici una piattaforma software tecnologicamente avanzata semplice e intuitiva, per aiutarli a gestire tutte le informazioni relative al trattamento del diabete. Innovativo il Clinical Pathway, che a partire da un modello Standard con procedimenti semplici e l’utilizzo di feedback del paziente, viene progressivamente personalizzato con le progressive modificazioni dello stato patologico, psicologico e non solo. La possibilità di e-prescribing per farmaci e device, e-learning per educare il paziente, tenerlo sotto stretto monitoraggio anche alla guida della propria auto, la rendono uno strumento utile e accattivante.

Occurrence and types of dental injuries among patients with maxillofacial fractures

The aim of this retrospective study was to clarify the occurrence and types of dental injuries in 389 patients who had been diagnosed with facial fractures, and to analyze whether the occurrence of dental injury correlates to gender, age, trauma mechanism and type of facial fracture. Dental injuries were observed in 62 patients (16%). The most common type of injury was a crown fracture (48%). Dental injuries were multiple in most patients (63%). Almost half (48%) of all injured teeth were severely injured. Most injured teeth (61%) were in the maxilla. The incisor region was the most prevalent site in both the mandible (45%) and the maxilla (56%). The occurrence of dental injury correlated significantly with trauma mechanism and fracture type: motor vehicle accidents and mandibular fracture were significant predictors for dental trauma. The notable rate of dental injury observed in the present study emphasizes the importance of a thorough examination of the oral cavity in all patients who have sustained facial fracture. Referral to a dental practice for further treatment and follow up as soon as possible after discharge from hospital is fundamental.

Mortality from road traffic accidents in Switzerland: longitudinal and spatial analyses

Road traffic accidents (RTA) are an important cause of premature death. We examined socio-demographic and geographical determinants of RTA mortality in Switzerland by linking 2000 census data to RTA mortality records 2000-2005 (ICD-10 codes V00-V99). Data from 5.5 million residents aged 18-94 years, 1744 study areas, and 1620 RTA deaths were analyzed, including 978 deaths (60.4%) in motor vehicle occupants, 254 (15.7%) in motorcyclists, 107 (6.6%) in cyclists, and 259 (16.0%) in pedestrians. Weibull survival models and Bayesian methods were used to calculate hazard ratios (HR), and standardized mortality ratios (SMR) across study areas. Adjusted HR comparing women with men ranged from 0.04 (95% CI 0.02-0.07) in motorcyclists to 0.43 (95% CI 0.32-0.56) in pedestrians. There was a u-shaped relationship with age in motor vehicle occupants and motorcyclists. In cyclists and pedestrians, mortality increased after age 55 years. Mortality was higher in individuals with primary education (HR 1.53; 95% CI 1.29-1.81), and higher in single (HR 1.24; 95% CI 1.05-1.46), widowed (HR 1.31; 95% CI 1.05-1.65) and divorced individuals (HR 1.62; 95% CI 1.33-1.97), compared to persons with tertiary education or married persons. The association with education was particularly strong for pedestrians (HR 1.87; 95% CI 1.20-2.91). RTA mortality increased with decreasing population density of study areas for motor vehicle occupants (test for trend p<0.0001) and motorcyclists (p=0.0021) but not for cyclists (p=0.39) or pedestrians (p=0.29). SMR standardized for socio-demographic and geographical variables ranged from 82 to 190. Prevention efforts should aim to reduce inequities across socio-demographic and educational groups, and across geographical areas, with interventions targeted at high-risk groups and areas, and different traffic users, including pedestrians.

Attacks on German public figures, 1968-2004: warning behaviors, potentially lethal and non-lethal acts, psychiatric status, and motivations

Fourteen non-terrorist attackers of public figures in Germany between 1968 and 2004 were intensively studied, with a particular focus on warning behaviors, attack behaviors, and the relationship between psychiatric diagnosis, symptoms, and motivations for the assault. A large proportion of the attackers were severely mentally ill, and most likely to be in the potentially lethal rather than the non-lethal group. A new typology of seven warning behaviors was applied to the data, and all were present, most frequently fixation and pathway warning behavior, and least frequently a direct threat. Psychiatric diagnosis could be closely linked to motivation when analyzed at the level of symptom and content of thought, often delusional. Most of the attacks were directed at political figures, and the majority occurred after 1995.