Integrating IoT devices in 3rd-party smart-home ecosystems: local vs remote middleware solutions

openThe Internet of Things is an especially prominent vector of evolution for commercial applications, including smart-home ecosystems. An IoT ecosystem is an ensemble of web-connected devices able to collect, send and act on environmental data. Individual manufacturers employ proprietary data models to endow their devices with ad-hoc properties, functionalities and relationships. When a 3rd-party ecosystem integration is required in a product, a common language needs to be defined, overarching foreign data models, so that all devices may be interacted with. To address this need, an integrator must use a local or remote middleware, whose deployment affects response times, user functionalities, and maintainability. The former option is less general but incurs less latency; the latter is more versatile, at the cost of higher latency and more complex data exchange. This thesis surveys and compares state-of-the-art integration strategies, and formulates two original solutions.The Internet of Things is an especially prominent vector of evolution for commercial applications, including smart-home ecosystems. An IoT ecosystem is an ensemble of web-connected devices able to collect, send and act on environmental data. Individual manufacturers employ proprietary data models to endow their devices with ad-hoc properties, functionalities and relationships. When a 3rd-party ecosystem integration is required in a product, a common language needs to be defined, overarching foreign data models, so that all devices may be interacted with. To address this need, an integrator must use a local or remote middleware, whose deployment affects response times, user functionalities, and maintainability. The former option is less general but incurs less latency; the latter is more versatile, at the cost of higher latency and more complex data exchange. This thesis surveys and compares state-of-the-art integration strategies, and formulates two original solutions

Integrazione di metodi per l'accesso sicuro in un sistema informativo sanitario

In questa tesi vengono investigati i principali requisiti di sicurezza che caratterizzano un’applicazione in ambito sanitario: l’autenticazione client-server, l’autorizzazione e il log delle atti-vità. Lo sviluppo di un prototipo sperimentale di sistema, servirà a valutare l’effettiva applicabilità di tali requisiti e le complicazioni ad esse associate. L’implementazione è calata nel contesto del Poli-clinico Universitario di Padova (Dipartimento di Medicina: Servizio di Radiologia e Medicina Nu-cleare) e tiene quindi conto dell’attuale sistema informativo già in uso, promuovendo una soluzione modulare, flessibile e pertanto di facile integrazioneope

IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis

A 48-years old man was diagnosed an IgD-k multiple myeloma (MM) at age 38 years for which he successfully underwent chemotherapy and bone marrow transplant. He then developed a graft-versus-host disease (GVHD) whose manifestations included, three years later, a polymyositis, diagnosed at muscle biopsy and successfully treated with steroids. Few months after polymyositis remission, myeloma relapsed and the patient was treated with thalidomide for six years with good remission. Soon after thalidomide suspension, MM relapsed again and the patient came to our observation for a new onset of neuromuscular symptoms. He underwent both muscle and peripheral nerve biopsy to discriminate between myositis (paraproteinemia versus GVHD), amyloidosis, and thalidomide toxicity. The first muscle biopsy showed an inflammatory pattern with necrotic fibres, macrophagical invasion (CD68 positive), rare interstitial cellular infiltrates (CD8 positive and CD4 negative), widespread anti-HLA positivity and negative antiMAC. The second muscle biopsy showed the same inflammatory pattern plus an involvement of blood vessels. Direct immunofluorescence for IgD showed diffuse positivity along the sarcolemmal in both muscle biopsies. Sural nerve biopsy demonstrated both demyelinating and axonal aspects with no inflammatory infiltrates, but positivity for HLA and MAC. Congo Red was negative in both skeletal muscle and peripheral nerve

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

Transthyretin (TTR) amyloidosis, the most frequent form of hereditary amyloidosis, is caused by dominant mutations in the TTR gene. More than 100 mutations have been identified. Clinical manifestations of TTR amyloidosis are usually induced by extracellular amyloid deposition in several organs. The major neurological manifestation is motor-sensory neuropathy associated with dysautonomic impairment. Here, we describe a 63-year-old man who came to our institution due to a suspected motor neuron disease. During a 4-year follow-up period, he underwent extensive clinical examination, electromyographic studies, sural nerve biopsy and TTR gene analysis by direct sequencing. Despite the predominant motor involvement, the detailed clinical examination also showed some mild sensory and dysautonomic signs. In addition, his clinical and family history included multiorgan disorders, such as carpal tunnel syndrome, as well as conditions with cardiac, renal, eye, and hepatic involvement. The sural nerve biopsy disclosed amyloid deposition, and the sequence analysis of the TTR gene detected a heterozygous Tyr78Phe substitution. The TTR gene variant found in our patient had only been described once so far, in a French man of Italian origin presenting with late-onset peripheral neuropathy and bilateral carpal tunnel syndrome. The predominant motor involvement presented by our patient is an uncommon occurrence and demonstrates the clinical heterogeneity of TTR amyloidosis

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions

Mitochondrial DNA (mtDNA) mutations are a common cause of primary mitochondrial disorders, and have also been implicated in a broad collection of conditions, including aging, neurodegeneration, and cancer. Prevalent among these pathogenic variants are mtDNA deletions, which show a strong bias for the loss of sequence in the major arc between, but not including, the heavy and light strand origins of replication. Because individual mtDNA deletions can accumulate focally, occur with multiple mixed breakpoints, and in the presence of normal mtDNA sequences, methods that detect broad-spectrum mutations with enhanced sensitivity and limited costs have both research and clinical applications. In this study, we evaluated semi-quantitative and digital PCR-based methods of mtDNA deletion detection using double-stranded reference templates or biological samples. Our aim was to describe key experimental assay parameters that will enable the analysis of low levels or small differences in mtDNA deletion load during disease progression, with limited false-positive detection. We determined that the digital PCR method significantly improved mtDNA deletion detection sensitivity through absolute quantitation, improved precision and reduced assay standard error

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

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Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Phospholamban is involved in the regulation of the activity and storage of calcium in cardiac muscle. Several mutations have been identified in the PLN gene causing cardiac disease associated with arrhythmogenic and dilated cardiomyopathy. The patho-mechanism underlying PLN mutations is not fully understood and a specific therapy is not yet available. PLN mutated patients have been deeply investigated in cardiac muscle, but very little is known about the effect of PLN mutations in skeletal muscle. In this study, we investigated both histological and functional features in skeletal muscle tissue and muscle-derived myoblasts from an Italian patient carrying the Arg14del mutation in PLN. The patient has a cardiac phenotype, but he also reported lower limb fatigability, cramps and fasciculations. The evaluation of a skeletal muscle biopsy showed histological, immunohistochemical and ultrastructural alterations. In particular, we detected an increase in the number of centronucleated fibers and a reduction in the fiber cross sectional area, an alteration in p62, LC3 and VCP proteins and the formation of perinuclear aggresomes. Furthermore, the patient's myoblasts showed a greater propensity to form aggresomes, even more marked after proteasome inhibition compared with control cells. Further genetic and functional studies are necessary to understand whether a definition of PLN myopathy, or cardiomyopathy plus, can be introduced for selected cases with clinical evidence of skeletal muscle involvement. Including skeletal muscle examination in the diagnostic process of PLN-mutated patients can help clarify this issue.This work was partially supported by the Italian Ministry of Health (Ministero della Salute, Ricerca Corrente 245)S

Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease

Mitochondrial defects that affect cellular energy metabolism have long been implicated in the etiology of Huntington's disease (HD). Indeed, several studies have found defects in the mitochondrial functions of the central nervous system and peripheral tissues of HD patients. In this study, we investigated the in vivo oxidative metabolism of exercising muscle in HD patients. Ventilatory and cardiometabolic parameters and plasma lactate concentrations were monitored during incremental cardiopulmonary exercise in twenty-five HD subjects and twenty-five healthy subjects. The total exercise capacity was normal in HD subjects but notably the HD patients and presymptomatic mutation carriers had a lower anaerobic threshold than the control subjects. The low anaerobic threshold of HD patients was associated with an increase in the concentration of plasma lactate. We also analyzed in vitro muscular cell cultures and found that HD cells produce more lactate than the cells of healthy subjects. Finally, we analyzed skeletal muscle samples by electron microscopy and we observed striking mitochondrial structural abnormalities in two out of seven HD subjects. Our findings confirm mitochondrial abnormalities in HD patients' skeletal muscle and suggest that the mitochondrial dysfunction is reflected functionally in a low anaerobic threshold and an increased lactate synthesis during intense physical exercise. © 2010 Movement Disorder Societ