69 research outputs found
Mitochondrial diseases: advances and issues
No full textMauro Scarpelli,1 Alice Todeschini,2 Irene Volonghi,2 Alessandro Padovani,2 Massimiliano Filosto2 1Department of Neuroscience, Unit of Neurology, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy; 2Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST “Spedali Civili”, University of Brescia, Brescia, Italy Abstract: Mitochondrial diseases (MDs) are a clinically heterogeneous group of disorders caused by a dysfunction of the mitochondrial respiratory chain. They can be related to mutation of genes encoded using either nuclear DNA or mitochondrial DNA. The advent of next generation sequencing and whole exome sequencing in studying the molecular bases of MDs will bring about a revolution in the field of mitochondrial medicine, also opening the possibility of better defining pathogenic mechanisms and developing novel therapeutic approaches for these devastating disorders. The canonical rules of mitochondrial medicine remain milestones, but novel issues have been raised following the use of advanced diagnostic technologies. Rigorous validation of the novel mutations detected using deep sequencing in patients with suspected MD, and a clear definition of the natural history, outcome measures, and biomarkers that could be usefully adopted in clinical trials, are mandatory goals for the scientific community. Today, therapy is often inadequate and mostly palliative. However, important advances have been made in treating some clinical entities, eg, mitochondrial neuro-gastrointestinal encephalomyopathy, for which approaches using allogeneic hematopoietic stem cell transplantation, orthotopic liver transplantation, and carrier erythrocyte entrapped thymidine phosphorylase enzyme therapy have recently been developed. Promising new treatment methods are being identified so that researchers, clinicians, and patients can join forces to change the history of these untreatable disorders. Keywords: mitochondrial diseases, therapy, MNGI
The healthcare negotiation process in a pediatric Stem Cell Transplant (SCT) Unit: A qualitative study.
No full textHemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II
No full textThis a case report of a patient affected by glycogenosis who was found to suffer a Hemangioma of the semimembranosus muscl
MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy
No full textHere we describe the imaging findings in a 73-year-old woman who had pain in the right inguinal region, followed by progressive weakness of muscles innervated by the right femoral and obturator nerves, diagnosed as nondiabetic lumbosacral radiculoplexus neuropathy. Magnetic resonance neurography showed thickening and increase in signal intensity of the right femoral and obturator nerve
Very late-onset friedreich ataxia with laryngeal dystonia
No full textFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN) on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA), after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA), after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances) occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA
Thymus vulgaris Essential Oil in Beta-Cyclodextrin for Solid-State Pharmaceutical Applications
No full text: Antimicrobial resistance related to the misuse of antibiotics is a well-known current topic. Their excessive use in several fields has led to enormous selective pressure on pathogenic and commensal bacteria, driving the evolution of antimicrobial resistance genes with severe impacts on human health. Among all the possible strategies, a viable one could be the development of medical features that employ essential oils (EOs), complex natural mixtures extracted from different plant organs, rich in organic compounds showing, among others, antiseptic properties. In this work, green extracted essential oil of Thymus vulgaris was included in cyclic oligosaccharides cyclodextrins (CD) and prepared in the form of tablets. This essential oil has been shown to have a strong transversal efficacy both as an antifungal and as an antibacterial agent. Its inclusion allows its effective use because an extension of the exposure time to the active compounds is obtained and, therefore, a more marked efficacy, especially against biofilm-producing microorganisms such as P. aeruginosa and S. aureus, was registered. The efficacy of the tablet against candidiasis opens their possible use as a chewable tablet against oral candidiasis and as a vaginal tablet against vaginal candidiasis. Moreover, the registered wide efficacy is even more positive since the proposed approach can be defined as effective, safe, and green. In fact, the natural mixture of the essential oil is produced by the steam current method; therefore, the manufacturer employs substances that are not harmful, with very low production and management costs
Visuoperceptual disturbance in children with periventricular leukomalacia: Neuropsychological and neuroradiological study [Il disturbo visuopercettivo nei bambini affetti da leucomalacia periventricolare: Studio neuropsicologico e neuroradiologico]
No full text3D Printing of protection systems for smart agriculture
No full textLAUREA MAGISTRALERecentemente gli effetti del cambiamento climatico sono diventati sempre più evidenti.
Il campo di produzione che più risente delle conseguenze del riscaldamento globale è il settore agricolo, poiché il clima influenza la crescita e lo sviluppo delle piante. La frequenza a cui le coltivazioni sono esposte a fenomeni metereologici estremi è in aumento, ed essi causano ingenti perdite di tipo economico. L'uso di reti per proteggere le piante e gli alberi da frutto è sempre stata pratica comune, tuttavia, di fronte ai cambiamenti delle condizioni climatiche, le reti da agricoltura tradizionali non sono più sufficienti. Un sistema intelligente diventa necessario per affrontare l’aumento e il mutamento delle problematiche che costituiscono una minaccia per le coltivazioni e i frutteti.
La stampa 3D è una tecnica in ascesa, con la potenzialità di essere applicata a vari settori. Quando eseguita su tessuti, viene definita 'Stampa 3D tessile', e sono numerosi gli studi che dimostrano come, stampando una geometria bi-dimensionale su un tessuto in tensione, si verifichi la formazione di una geometria 3D con nuove funzionalità. Questo è il punto di partenza per la generazione di un materiale 'smart' generato con la stampa 3D che può essere applicato nel campo dell'agricoltura in sostituzione delle reti tradizionali. Tale è il concetto introdotto in questa tesi, e in questo ambito vengono compiuti i primi passi per la verifica e l'adattamento all'applicazione finale. Geometrie con crescente livello di complessità vengono stampate e studiate, con lo scopo di definire un modello ad elementi finiti che possa essere accurato per fornire previsioni sul fenomeno di ‘buckling’ di ciascuna geometria. Per questo scopo è stato utilizzato ABAQUS, e i risultati ottenuti da simulazioni implicite ed esplicite vengono presentati e confrontati. Apportando miglioramenti alla definizione del contatto tra substrato ed elemento stampato, è stato possibile caratterizzare un modello sufficientemente accurato che, in futuro, potrà essere utilizzato per il training di un'intelligenza artificiale che possa predire le deformazioni ottenibili e i possibili benefici di una determinata geometria rispetto ad un'applicazione in campo agricolo. In merito a ciò, è interessante il comportamento di una griglia in PLA stampata su substrato di Lycra mantenuto in tensione per la durata della stampa, il cui principio di funzionamento può essere adattato e trasferito su applicazione a reti in uno studio futuro.In the past few years, the effects of climate change have become more and more noticeable.
The production field that suffers the most from the consequences of global warming is the agricultural sector, as climate heavily influences plant growth and development. Crops and orchards are exposed, with increasing frequency, to extreme meteorological events, which have led to high economic losses. The use of nets to protect plants and trees has always been a common practice but, in the face of the changing climatic conditions, traditional agricultural nets are no longer sufficient. A smart system is needed to face the ever-changing issues that pose a threat to orchards and crops.
3D printing is a technique on the rise, which has the potential to be applied to many sectors. When used in combination with textiles it can be defined as textile 3D printing, and recent studies show that printing a two-dimensional geometry on a pre-stretched fabric leads to the formation of a three-dimensional geometry with new functionalities. This is the starting point for the definition of a 3D printed smart material which can be applied to the agricultural field in place of the traditional net systems. This concept is introduced in this thesis, and the first steps for the verification and adaptation of this idea are performed. Geometries of varying levels of complexity are printed and studied, with the goal of defining a finite element model to provide accurate forecasts of buckled configurations for all possible geometries. ABAQUS was used for this purpose, and results from implicit and explicit simulations are presented and compared. By improving the contact definition between the substrate and the printed geometry it was possible to achieve a sufficiently accurate model. This could be exploited in the future for the training of AI platforms and the prediction of the deformation obtained, which can be useful in defining the benefits of the geometries with respect to agricultural applications. In this regard the behavior observed in a PLA grid printed on the pre-stretched Lycra substrate is especially interesting and its working principle could be adjusted and applied to agricultural nets in future studies
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript
No full textWe describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and thigh were observed upon clinical examination. He harboured a novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript. However, protein of normal molecular weight but in reduced amounts was observed on Western Blot analysis. Reverse transcription analysis on muscle RNA showed production, via alternative splicing, of a transcript missing exon 11 as well as a low abundant full-length transcript which is enough to avoid the severe Duchenne phenotype. Our study showed that a reduced amount of full length dystrophin leads to a mild form of Becker muscular dystrophy. These results confirm earlier findings that low amounts of dystrophin can be associated with a milder phenotype, which is promising for therapies aiming at dystrophin restoration
The Role of Needle Fear in Pediatric Flu Vaccine Hesitancy: A Cross-Sectional Study in Bologna Metropolitan Area
No full text(1) Background: vaccination is the most effective way to prevent influenza and reduce its complications. The main aim of the study is to assess a possible increase of parents’/caregivers’ pediatric flu vaccination adherence due to a nasal administration as an alternative to injection in Bologna. (2) Methods: 169 parents/guardians of children who were joining the COVID-19 pediatric vaccination session in Bologna were interviewed. The results were summarized using descriptive statistics. A multiple logistic regression model was used to assess the determinants of the change in flu vaccine uptake if offered without injection administration. All analyses were conducted using STATA and R-Studio software. (3) Results: Only 29.0% of parents were informed about pediatric flu vaccination by pediatricians, and 32.5% heard about pediatric flu vaccination. Almost 72.2% of parents declared that they would not have their children vaccinated against influenza. Thus, 40.2% of them changed their opinion after being informed about the existence of a non-injective vaccine. Needle fear in children turned out to be a determinant of this opinion change (OR = 3.79; 95% CI = 1.63–9.43; p = 0.003). (4) Conclusions: the study has confirmed that needle fear is a determinant of vaccine hesitancy and that a different method of administration may increase parents’/guardians’ adherence
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