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1.
Sci Rep ; 13(1): 7022, 2023 04 29.
Artículo en Inglés | MEDLINE | ID: mdl-37120449

RESUMEN

Volcanic rocks were among the most sought-after materials to produce grinding tools in antiquity because lavas lithologies, either mafic or felsic, ensured good wear resistance and grinding capacity with respect to many other kinds of rocks. The interest in findings made of vesciculated lavas, referable to parts of querns, mortars, and/or pestles of the Final Bronze Age site of Monte Croce Guardia (Arcevia) lies in the fact that this settlement was built upon limestones belonging to the sedimentary sequence of the Marche-Umbria Apennines (central Italy) and far away from potential raw materials of volcanic rocks. A petrologic study of 23 grinding tool fragments clearly indicates a provenance from the volcanic provinces of central Italy: Latium and Tuscany Regions. Few leucite tephrites (5) and one leucite phonolite lavas have a clear magmatic affinity with the high-K series of the Roman Volcanic Province (Latium) whereas the most abundant volcanic lithotype (17 samples) is represented by shoshonites (K-series) whose thin section texture, modal mineralogy and major-trace elements contents closely match with the shoshonite lavas from the Radicofani volcanic centre in the Tuscan Magmatic Province. At Radicofani (a volcanic neck in the eastern sector of Tuscany) a Final Bronze Age site coeval to that of Arcevia is present and a potential pathway corridor from that site towards Arcevia (air-line distance of ca. 115 km) is dotted with many settlements of the same age. Through analytical algorithms based on the slope and the different human-dependent cost-functions which can be applied to determine non-isotropic accumulated cost surface, least-cost paths and least-cost corridors, the best route from Radicofani to Monte Croce Guardia, approximately 140 km long, was simulated, with a walking time of 25-30 h, possibly using pack animals and wheel chariots. Three thousand years ago the Apennine Mountains did not thus constitute a barrier for human movements. This study also shed light on some other possible patterns of interactions between Final Bronze Age communities of central Italy through the present-day regions of Tuscany, Umbria and Marche, aimed towards the best performance of strategic economic activities at that time such as that of the transformation of cereals, and accompanied to cultural and social reasons.


Asunto(s)
Silicatos de Aluminio , Oligoelementos , Humanos , Italia
2.
Mol Genet Metab Rep ; 21: 100540, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31844629

RESUMEN

Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.

3.
Phys Rev Lett ; 119(18): 180402, 2017 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-29219574

RESUMEN

We show that, whereas spin-1/2 one-dimensional U(1) quantum-link models (QLMs) are topologically trivial, when implemented in ladderlike lattices these models may present an intriguing ground-state phase diagram, which includes a symmetry protected topological (SPT) phase that may be readily revealed by analyzing long-range string spin correlations along the ladder legs. We propose a simple scheme for the realization of spin-1/2 U(1) QLMs based on single-component fermions loaded in an optical lattice with s and p bands, showing that the SPT phase may be experimentally realized by adiabatic preparation.

4.
Acta Otorhinolaryngol Ital ; 35(6): 449-54, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-26900252

RESUMEN

The purpose of this study is to demonstrate that the GOCCLES® medical device allows proper autofluorescence examination of the oral mucosa in a dental care setting. This is a non-randomised multicentre clinical trial on consecutive patients at risk for oral cancer. Patients underwent a classical naked eye inspection of the oral cavity followed by autofluorescence examination wearing the GOCCLES® spectacles while the light from a dental curing light irradiated the oral mucosa. Lesions were defined as visible potentially malignant lesions and/or fluorescence loss areas. All persisting lesions underwent excisional or incisional biopsy. Sixty-one patients were enrolled. Data from 64 biopsies were analysed. Of the 62 lesions identified by the device, 31 were true positives. The device identified 31 of 32 true positive lesions. One lesion (an invasive carcinoma) was not visible to the naked eye. The device identified all lesions classified as moderate dysplasia to invasive cancer. In 56.7% of cases, true positive lesions showed greater extension when observed through the device. The GOCCLES® medical device allowed the direct visualisation of fluorescence loss in patients suffering from mild to severe dysplasia and in situ to invasive oral cancer. It allowed autofluorescence examination with each source of light used during the study. These results suggest that the role of the autofluorescence visualisation is that of a complementary inspection following naked eye examination when dealing with patients at risk for oral cancer. The device allows detection of otherwise invisible lesions and otherwise impossible complete resections.


Asunto(s)
Carcinoma de Células Escamosas/diagnóstico , Neoplasias de la Boca/diagnóstico , Imagen Óptica , Lesiones Precancerosas/diagnóstico , Humanos , Luz , Mucosa Bucal , Sensibilidad y Especificidad
5.
Bone Marrow Transplant ; 49(11): 1376-81, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25068420

RESUMEN

Sickle cell anemia (SCA) remains associated with high risks of morbidity and early death. Allogeneic hematopoietic SCT (HSCT) is the only curative treatment for SCA. We report our experience with transplantation in a group of patients with the non-Black African variant and the Black African variant of SCA. This study included 40 consecutive SCA patients (13 patients with the non-Black African variant and 27 with the Black African variant) who underwent BM transplantation from HLA-identical sibling donors between June 2004 and May 2013, following a myeloablative-conditioning regimen. All patients obtained sustained engraftment. One patient (non-Black African variant) became a stable mixed chimera with 25% donor cells more than 6 years after transplantation. The probabilities of survival, SCA-free survival and TRM at 5 years after transplant were 91%, 91% and 9%, respectively. All surviving patients remained free of any SCA-related events after transplantation. Our results confirm that it is possible to offer a greater than 90% chance of cure to children with SCA. HSCT should be considered the standard of care for who have an HLA-identical donor, before complications result from the sickling of RBC.


Asunto(s)
Anemia de Células Falciformes/terapia , Población Negra , Trasplante de Células Madre Hematopoyéticas , Adolescente , Adulto , Aloinjertos , Anemia de Células Falciformes/etnología , Anemia de Células Falciformes/mortalidad , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Humanos , Lactante , Estudios Retrospectivos , Hermanos , Tasa de Supervivencia
6.
Ultrasound Obstet Gynecol ; 39(4): 384-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22262341

RESUMEN

A precise guideline establishing chromosomal microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The controversial question is whether CMA technologies can or should soon replace standard karyotyping in prenatal diagnostic practice. A review of the recent literature and survey of the knowledge and experience of all members of the Italian Society of Human Genetics (SIGU) Committee were carried out in order to propose recommendations for the use of CMA in prenatal testing. The analysis of datasets reported in the medical literature showed a considerable 6.4% incidence of pathogenic copy number variations (CNVs) in the group of pregnancies with sonographically detected fetal abnormalities and normal karyotype. The reported CNVs are likely to have a relevant role in terms of nosology for the fetus and in the assessment of reproductive risk for the couple. Estimation of the frequency of copy number variations of uncertain significance (VOUS) varied depending on the different CMA platforms used, ranging from 0-4%, obtained using targeted arrays, to 9-12%, obtained using high-resolution whole genome single nucleotide polymorphism (SNP) arrays. CMA analysis can be considered a second-tier diagnostic test to be used after standard karyotyping in selected groups of pregnancies, namely those with single (apparently isolated) or multiple ultrasound fetal abnormalities, those with chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes.


Asunto(s)
Trastornos de los Cromosomas/genética , Análisis Citogenético/métodos , Análisis por Micromatrices/métodos , Diagnóstico Prenatal/métodos , Trastornos de los Cromosomas/diagnóstico , Análisis Citogenético/tendencias , Femenino , Humanos , Italia , Polimorfismo de Nucleótido Simple , Embarazo
7.
Ann Hematol ; 81(9): 514-6, 2002 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-12373352

RESUMEN

The lymphoid tissues of Waldeyer's ring, including the nasopharynx, are rarely involved in Hodgkin's disease (HD). Between March 1977 and July 2001, about 2150 patients affected by HD were observed in our institute; 7 of them (0.32%), all male patients, had HD of the nasopharynx. They had no symptoms and blood tests were normal. All patients were treated with chemotherapy and/or radiotherapy and achieved complete remission. At a median follow-up of 72 months, they are alive and in continuous complete remission. We conclude that Hodgkin's disease of the nasopharynx is a rare and predominantly male disease with a particularly favorable prognosis. Bone marrow biopsy could be avoided. We believe that two to four cycles of a chemotherapeutic regimen and involved field radiotherapy at an intermediate-high dosage (25-30 Gy) could be the first line treatment for these patients.


Asunto(s)
Enfermedad de Hodgkin/diagnóstico , Neoplasias Nasofaríngeas/diagnóstico , Adulto , Terapia Combinada , Supervivencia sin Enfermedad , Estudios de Seguimiento , Enfermedad de Hodgkin/terapia , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Neoplasias Nasofaríngeas/terapia , Inducción de Remisión
8.
Acta Otorhinolaryngol Ital ; 20(6): 442-7, 2000 Dec.
Artículo en Italiano | MEDLINE | ID: mdl-11398682

RESUMEN

The present work reviews the authors personal experience and applies a meta-analysis of the data in the literature (approximately 800 cases) to better focus on the opportunities and difficulties involved in the Majer-Piquet technique. Particular attention is focused on the problems involved in deglutition. The study involves 44 patients who underwent cricohyoidoepiglottopexy (CHEP) between 1989 and 1998. Given that surgical and rehabilitation techniques have been refined over the years, to better analyze the functional results, the data were separated into two subsequent periods. Of the 23 patients who underwent surgery between 1989 and 1992 (group I), 6 were benefited from bilateral preservation of the arytenoids while this was only possible in two of the 21 cases operated in the second period from 1993 to 1998 (group II). Functional rehabilitation was started earlier in the second group and was routinely monitored with digital viedeofluorography. The average recovery time was 34 days for group I and 27 days for group II. The tracheostomy closed in an average 91 days vs. the 13 days found by the meta-analysis of the literature. The authors normally leave the tracheostoma in place for a long time, even when closed with an easily removed plug, and only perform plastic surgery when the patient has shown stable deglutition for several weeks. The naso-gastric tube was removed from both groups of patients after an average 16 days while the review of the literature shows an average 21 days. On the whole the authors record good deglutition in 41 of the 44 cases (93.18%) with adequate deglutition in the remaining 3 cases. Likewise the literature reports good deglutition in 86.4% of the cases. The only difference found between the two groups of patients was a quicker recovery in the second group; there were no qualitative differences. The results are described and discussed. In conclusion, the present experience places CHEP in favorable light as long as the limits inherent to the method are recognized. However, these limitations relegate the technique to a "sporadic" role and the review of the literature appears to confirm this attitude.


Asunto(s)
Cartílago Cricoides , Deglución , Epiglotis , Hueso Hioides , Neoplasias Laríngeas/cirugía , Laringectomía/métodos , Femenino , Humanos , Masculino
10.
Acta Otorhinolaryngol Ital ; 19(6): 315-24, 1999 Dec.
Artículo en Italiano | MEDLINE | ID: mdl-10875155

RESUMEN

Today, surgery is the treatment of choice for nasal sinus polyposis. Nevertheless, although meticulous surgery does "per se" reduce the percentage of recurrences, there are cases where even the most painstaking removal of the entire pathology cannot prevent recurrence. Therefore recurrences do not appear linked to the type of surgery; rather onset appears linked to intrinsic, only partially recognizable factors responsible for the primary and secondary polypogenesis. In order to identify negative prognostic factors which might be implicated in recurrences, the present study extrapolated the data from forms on 181 patients who had undergone surgery for nasal sinus polyposis and subjected it to multivariance analysis. These patients were recruited during the course of a multicenter study with the participation of 12 ENT Centers in Piemont and Liguria. The recurrence rate was 13%. In analyzing unfavorable factors prognosticating recurrence, thirteen parameters were examined. Nine of these (age, sex, severe deviation of the septum causing restriction, severe turbinate hypertrophy, surgery or repeat surgery for recurrence, type of macro-micro endoscopic surgery, allergy to seasonal inhalants, allergy to perennial inhalants, mixed allergies) did not prove to have any significance in recurrences. The presence of bilateral involvement of the sinus system presented a negative trend as regards recurrences while involvement of more than one subsite (anterior ethmoid, posterior ethmoid, maxillary sinus, sphenoid), ASA and NSAID intolerance and abundant eosinophilic infiltration in the mucous chorion proved statistically significant (p < 0.05 for all three parameters) for recurrence. Post-operative topic prophylactic treatment with steroids (beclomethasone) or anti-H1 drugs (azelastin, HCl) did not appear to affect the onset of recurrence although it did have a positive effect on subjective symptoms.


Asunto(s)
Antiinflamatorios/uso terapéutico , Pólipos Nasales/prevención & control , Pólipos Nasales/cirugía , Terapia Combinada , Estudios de Seguimiento , Humanos , Proyectos Piloto , Recurrencia , Estudios Retrospectivos , Esteroides
11.
Acta Otorhinolaryngol Ital ; 19(4): 213-20, 1999 Aug.
Artículo en Italiano | MEDLINE | ID: mdl-10736927

RESUMEN

Inverted papilloma (IP) is a rare and yet complex pathology, particularly due to the risk of recurrence (approximately 50%) and the onset of carcinoma (approximately 15%). Moreover, in clinical practice it is difficult to diagnose and treat. The present work reviews a personal case study in order to make an essentially clinical evaluation of the problems of diagnosis and treatment. From 1989 to 1997, among approximately 1200 cases of surgery for phlogistic or neoplastic nasal-sinus pathologies, 26 cases of IP were treated. Of these 22 underwent a minimum follow-up of 12 months. In 5 out of the 22, it was a recurrence of 'nasal polyps' which had been surgically treated at another site (with histology performed for only 2 of the patients). In 8 of the 22, imaging did not indicate IP, resulting in an underestimation of the disorder and most likely affecting treatment. The following procedures were performed: 6 sphenoethmoidotomies through an endonasal approach (with and without endoscopy); 19 radical spheno-ethmoidomaxillotomies extended to varying degrees to the demolition of bone and, in 3 cases, using a paralatero-nasal approach (because of invasion of the anterior ethmoid); 4 endonasal exereses for IP arising in the septum (1 with reconstructive naso-genieno flap); 1 maxillectomy. Of the patients (22) who had undergone surgery in our Division, 5 showed recurrences and 3 of these had undergone spheno-ethmoidotomy through the endonasal approach. Moreover, all the cases of recurrence involved underestimated preoperative diagnosis (i.e. the 8 patients for whom IP was only recognized after histology). Among the 5 recurrences, for 2 carcinoma fields were diagnosed; for 3 additional surgery was required: one patient underwent additional surgery twice while another 3 times (lastly with a maxillectomy). The surgery did not lead to serious complications and at the present time all patients are alive and macroscopically disease free. Analysis of the literature and personal experience has lead to the following considerations: routine diagnostic evaluation of "polyps" is most likely still inadequate; it appears that the risk of recurrences can be controlled only with adequately aggressive surgery; endonasal forms (above all septal) could be disconnected, normally leading to peculiar histological and clinical features.


Asunto(s)
Papiloma Invertido/patología , Papiloma Invertido/cirugía , Neoplasias de los Senos Paranasales/patología , Neoplasias de los Senos Paranasales/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Procedimientos Quirúrgicos Operativos/métodos
12.
Tumori ; 85(6): 523-5, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10774579

RESUMEN

Melanoma of the head and neck is an extremely rare disease, characterized by difficult and late diagnosis and poor prognosis; moreover, the definition of primary melanomas of the salivary glands remains controversial. In this paper we describe an unusual case of primary melanoma arising in the parotid gland. A 60-year-old woman presented to us for the persistence of a parotid neoplasm diagnosed as carcinoma by fine-needle aspiration and treated with radiation therapy. Wide destructive surgery was performed and immunohistochemical analysis of the surgical specimen led to a diagnosis of melanoma. Complete screening excluded other primary tumor sites. After five years of follow-up the patient Is alive and free of disease. Here we report the diagnostic procedures leading to the diagnosis along with a critical analysis of the literature, emphasizing the difficulties in the diagnosis and classification of melanoma as a primary tumor in the parotid gland and the need for destructive surgery.


Asunto(s)
Melanoma/patología , Neoplasias de la Parótida/patología , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Melanoma/cirugía , Persona de Mediana Edad , Neoplasias de la Parótida/cirugía
13.
Semin Arthritis Rheum ; 26(1): 492-501, 1996 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8870117

RESUMEN

OBJECTIVE: To compare hyaluronan and its alpha-methyl prednisolone derivative (HYC-141) with respect to their potential to directly cause tissue damage and to protect tissues from attack by reactive oxygen species. METHODS: Cartilage samples and chondrocytes were isolated from 15-day chick embryos and were exposed to enzyme-based and activated inflammatory cell-free radical generating systems in the presence of varying concentrations of alpha-methyl prednisolone, hyaluronan, and HYC-141. Tissue and cell vitality was measured by determining the incorporation of radioactive sulphate into newly synthesized glycosaminoglycans. RESULTS: Only alpha-methyl prednisolone caused a significant decrease in biosynthetic activity. All the tested substances were capable, to some extent, of protecting tissues and cells from damage by reactive oxygen species; HYC-141 demonstrated the greatest protective effect. CONCLUSION: These data suggest that HYC-141 may possess certain advantages over the individual component molecules in the local treatment of arthropathies.


Asunto(s)
Antiinflamatorios/farmacología , Antioxidantes/farmacología , Cartílago Articular/citología , Ácido Hialurónico/farmacología , Prednisolona/farmacología , Animales , Células Cultivadas/efectos de los fármacos , Embrión de Pollo , Relación Dosis-Respuesta a Droga , Radicales Libres/metabolismo , Glicoproteínas/biosíntesis , Ácido Hialurónico/análogos & derivados , Esternón/citología , Radioisótopos de Azufre
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