92 research outputs found
Rialzo del pavimento del seno mascellare con innesto di tessuto osseo autologo e idrossiapatite: valutazioni istologiche
No full text
[Italian Cystic Fibrosis Register - Report 2010]
No full textThe Italian National CF Registry (INCFR) is based on the official agreement between the clinicians of the Italian National Referral Centers for Cystic Fibrosis and the researchers of the Istituto Superiore di Sanità (National Center for Rare Diseases; National Center for Epidemiology, Surveillance and Health Care Promotion). OBJECTIVES The main aim of INCFR is to contribute to the improvement in CF patients health care and clinical management through: i. the estimates of CF prevalence and incidence in Italy; ii. the analyses of medium and long term clinical and epidemiological trends of the disesase; iii. the identification of the main health care needs at regional and national level to contribute to the Health Care programmes and to the distribution of resources. MATERIALS AND METHODS Analyses and results described in the present Report are referred to patients in charge to the Italian National Referral Centers for Cystic Fibrosis in 2010. Data were sent by Centers by means of a specific software (Camilla, Ibis Informatica). The Italian National Referral Centers for Cystic Fibrosis sent a total of 5,271 individual records; 1,112 records were excluded from the analyses due to restricted inclusion criteria. The total number of patients included in INCFR for analyses is 4,159. RESULTS INCFR database includes all prevalent cases at 1th January 2010 as well as all new diagnoses done in 2010. The present Report has been organized into 9 sections. 1. Demography: estimated 2010 CF prevalence was 7/100,000 residents in Italy; 52% of the patients were male, CF distribution showed higher frequency in patients aged 7 to 35 years. In 2010, 48.9% of the patients were more than 18 years old. 2. Diagnoses: most of the CF patients were diagnosed before two years of age (66.7%); a significant percentage of patients (11.4%) was diagnosed in adult-age. 3. New diagnoses (2010): new diagnoses were 168. Sixty-five percent of them was diagnosed before the second year of age and 17%in adulthood. No differences were observed between male and female. Incidence at birth was estimated 1/4,854 living births. 4
ANALYSIS OF DISSOCIATION PROCESSES THROUGH INTERFEROMETRIC STUDIES OF VT RELAXATION-TIMES
No full textDe novo mitochondrial DNA alteration in child with complex neurilogical compromission.
No full textneuromuscular human diseases have been associated with
mitochondrial DNA (mtDNA) variations, causing defects of
oxidative phosphorylation. These dysfunctions affect
preferentially tissues with high energy demands and give arise
to several degenerative disorders such as optic neuropathy,
cerebellar ataxia, movement disorders, dementia, muscle
weakness and deafness. The extremely heterogeneous clinical
phenotype is due to the involved tissue, to specific mtDNA
mutations and their heteroplasmic level, but also to nuclear
DNA alterations, environmental and epigenetic factors. In this
study we investigated a child affected by a complex
neurological disease whose clinical features were suggestive
of a mitochondrial involvement.
Methods: mtDNA from proband, her healthy relatives
(grandmother, mother and two sisters) and 80 controls were
collected and studied by sequencing. The enzymatic activity of
specific respiratory chain complex was tested on lymphocytes
by spectrophotometric assay. Bioinformatic analysis was
performed to predict the pathogenicity of the detected variants.
Results: In all subjects we detected 11 known polymorphisms,
whereas 1 novel heteroplasmic variant in complex I
[ND5:12514G>A (E60K)] was present only in the proband and
in her grandmother and absent in controls. The bioinformatics
predicted the novel variant to be deleterious. Further,
spectrophotometric assay of complex I activity was lower both
in the proband and in her relatives than in the controls.
Conclusions: We report a novel mtDNA variant detected in a
patient affected by a complex neurological disease. The
reduction of complex I respiratory chain activity associated to
this variant suggests it could exert a pathogenic role in the
disease
An Eddy-Current Testing Method for Measuring the Thickness of Metallic Plates
No full textThickness measurements of metallic plates are mandatory in many industrial scenarios. Methods based on eddy-current testing (ECT) are ideal for fast and accurate online contactless thickness measurements, making them very attractive in the Industry 4.0 scenario. This contribution is focused on a specific and robust ECT technique proposed in the past by the scientific community. The main limitation is its applicability to thin materials only, where the thickness of the material is much smaller than the overall size of the ECT probe. Extending the range of applicability to thicker materials introduces a progressive and severe degradation of the measurement accuracy. In this article, we analyze the theoretical foundation of this method with an entirely original approach based on the celebrated Buckingham π theorem. In doing this, we draw the complete theoretical picture of the method, providing a simple, clear, and rigorous view of its performance and intrinsic limitations. Moreover, we propose two solutions, one analytical and the other iterative, to accurately estimate the thickness of the materials from thin to thick values. Finally, a numerical analysis combined with an experimental campaign confirms the effectiveness of the proposed solutions, making the method suitable for industrial and other applications
[Mechanical ventilation and early weaning: a qualitative study on patient's experiences in an intensive care unit]
No full textMechanical ventilation and early weaning: a qualitative study on patient's experiences in an intensive care unit
To Diet or Not to Diet This Is the Question in Food-Protein-Induced Allergic Proctocolitis (FPIAP)—A Comprehensive Review of Current Recommendations
No full textFood-protein-induced allergic proctocolitis (FPIAP) is an increasingly reported transient and benign form of colitis that occurs commonly in the first weeks of life in healthy breastfed or formula-fed infants. Distal colon mucosal inflammation is caused by a non-IgE immune reaction to food allergens, more commonly to cow’s milk protein. Rectal bleeding possibly associated with mucus and loose stools is the clinical hallmark of FPIAP. To date, no specific biomarker is available, and investigations are reserved for severe cases. Disappearance of blood in the stool may occur within days or weeks from starting the maternal or infant elimination diet, and tolerance to the food allergen is typically acquired before one year of life in most patients. In some infants, no relapse of bleeding occurs when the presumed offending food is reassumed after a few weeks of the elimination diet. Many guidelines and expert consensus on cow’s milk allergy have recently been published. However, the role of diet is still debated, and recommendations on the appropriateness and duration of allergen elimination in FPIAP are heterogeneous. This review summarizes and compares the different proposed nutritional management of infants suffering from FPIAP, highlighting the pros and cons according to the most recent literature data
Dispostitivo di misura di spessore mediante correnti indotte e relativo metodo di misura
No full textUn dispositivo di misura di spessore (1) di un oggetto (5) conduttivo non magnetico, prevede: uno stadio sensore (2), a correnti indotte, avente un elemento a bobina (4) atto ad essere disposto ad una certa distanza (d) rispetto all’oggetto(5) ed un modulo di eccitazione (2a), che fornisce un segnale di eccitazione (Sin) all’elemento a bobina (4) per generare correnti indotte; ed uno stadio di elaborazione (4), che elabora segnali di rilevamento (Sd) forniti dall’elemento a bobina (4) in funzione del campo magnetico generato dalle correnti indotte al fine di stimare uno spessore (c) dell’oggetto (5). Lo stadio di elaborazione (4) è configurato in modo da stimare lo spessore (c) in funzione di una frequenza di picco (f_min) associata ad una variazione di impedenza che si verifica quando l’elemento a bobina (4) è posto in corrispondenza dell’oggetto (5) rispetto a quando l’elemento a bobina (4) è posto in aria ed in funzione di una variabile caratteristica (α_0) associata all’elemento a bobina (4) ed all’oggetto (5). In particolare, lo stadio di elaborazione (4) implementa un modulo di ottimizzazione (16), in modo da calcolare un valore ottimizzato per tale variabile caratteristica (α_0) ed un modulo di stima di spessore (18), in modo da stimare un corrispondente valore dello spessore (c).
Figura principale: Figura
To Diet or Not to Diet This Is the Question in Food-Protein-Induced Allergic Proctocolitis (FPIAP)—A Comprehensive Review of Current Recommendations
No full textFood-protein-induced allergic proctocolitis (FPIAP) is an increasingly reported transient and benign form of colitis that occurs commonly in the first weeks of life in healthy breastfed or formula-fed infants. Distal colon mucosal inflammation is caused by a non-IgE immune reaction to food allergens, more commonly to cow’s milk protein. Rectal bleeding possibly associated with mucus and loose stools is the clinical hallmark of FPIAP. To date, no specific biomarker is available, and investigations are reserved for severe cases. Disappearance of blood in the stool may occur within days or weeks from starting the maternal or infant elimination diet, and tolerance to the food allergen is typically acquired before one year of life in most patients. In some infants, no relapse of bleeding occurs when the presumed offending food is reassumed after a few weeks of the elimination diet. Many guidelines and expert consensus on cow’s milk allergy have recently been published. However, the role of diet is still debated, and recommendations on the appropriateness and duration of allergen elimination in FPIAP are heterogeneous. This review summarizes and compares the different proposed nutritional management of infants suffering from FPIAP, highlighting the pros and cons according to the most recent literature data
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