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2.
Brain Spine ; 2: 100909, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36248151

RESUMO

•New insight into prognostic factors for recovery of clinical function following posterior decompression for degenerative cervical myelopathy.•An increase of IOM amplitude of at least 50% coupled with preoperative T2-only and diffuse T2 signal changes on MRI is a positive prognostic factors for clinical improvement 6 months after surgery.•Clinical improvement at 6 months follow-up can be expected in patients with T1 hypo intensity if a diffuse border of the lesion on T2 images is present.

3.
Eur J Neurol ; 28(2): 602-608, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33012052

RESUMO

BACKGROUND AND PURPOSE: Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary-care centers or enrolled in any disease registry. METHODS: We compared demographics and disease characteristics, including assessment of motor and respiratory function, in regularly followed patients and newcomers subdivided according to the SMA type. RESULTS: The cohort included 166 adult patients (mean age: 37.09 years): one type I, 65 type II, 99 type III, and one type IV. Of these 166, there were 67 newcomers. There was no significant difference between newcomers and regularly followed patients in relation to age and disease duration. The Hammersmith Functional Motor Scale Expanded and Revised Upper Limb Module scores were higher in the regularly followed patients compared to newcomers in the whole cohort and in both SMA II and II. A difference was also found on ventilatory status (p = 0.013) and Cobb's angle >50° (p = 0.039) between the two subgroups. No difference was found in scoliosis surgery prevalence (p > 0.05). CONCLUSIONS: Our results showed differences between the two subgroups, even if less marked in the type III patients. In the type II patients, there was a higher proportion of newcomers who were in the severe end of the spectrum. Of the newcomers, only approximately a third initiated treatment, as opposed to the 51% in the regularly followed patients. The identification of patients who were not part of the registries will help to redefine the overall prevalence of SMA and the occurrence of different phenotypes.


Assuntos
Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Adulto , Estudos de Coortes , Humanos , Atrofia Muscular Espinal/tratamento farmacológico , Atrofia Muscular Espinal/epidemiologia , Oligonucleotídeos , Atrofias Musculares Espinais da Infância/tratamento farmacológico , Atrofias Musculares Espinais da Infância/epidemiologia
4.
Ultrasound Obstet Gynecol ; 57(4): 551-559, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33030767

RESUMO

OBJECTIVE: To report the outcome of fetuses with congenital cytomegalovirus (CMV) infection and normal ultrasound at the time of diagnosis, and to evaluate the rate of an additional anomaly detected only on magnetic resonance imaging (MRI). METHODS: Medline, EMBASE, CINAHL and Cochrane databases were searched for studies reporting on the outcome of fetuses with congenital CMV infection. Inclusion criteria were fetuses with confirmed CMV infection and normal ultrasound assessment at the time of the initial evaluation. The outcomes observed were an anomaly detected on a follow-up ultrasound scan, an anomaly detected on prenatal MRI but missed on ultrasound, an anomaly detected on postnatal assessment but missed prenatally, perinatal mortality, symptomatic infection at birth, neurodevelopmental outcome and hearing and visual deficits. Neurodevelopmental outcome was assessed only in cases of isolated CMV infection confirmed at birth. Subgroup analysis was performed according to the trimester in which maternal infection occurred. Random-effects meta-analysis of proportions was used to analyze the data. RESULTS: Twenty-six studies were included, comprising 2603 fetuses with congenital CMV infection, of which 1178 (45.3%) had normal ultrasound at the time of diagnosis and were included in the analysis. The overall rate of an associated central nervous system (CNS) anomaly detected on a follow-up ultrasound scan was 4.4% (95% CI, 1.4-8.8%) (32/523; 15 studies), while the rates of those detected exclusively on prenatal MRI or on postnatal imaging were 5.8% (95% CI, 1.9-11.5%) (19/357; 11 studies) and 3.2% (95% CI, 0.3-9.0%) (50/660; 17 studies), respectively. The rate of an associated extra-CNS anomaly detected on a follow-up ultrasound scan was 2.9% (95% CI, 0.8-6.3%) (19/523; 15 studies), while the rates of those detected exclusively on MRI or on postnatal imaging were 0% (95% CI, 0.0-1.7%) (0/357; 11 studies) and 0.9% (95% CI, 0.3-1.8%) (4/660; 17 studies), respectively. Intrauterine death and perinatal death each occurred in 0.7% (95% CI, 0.3-1.4%) (2/824; 23 studies) of cases. In cases without an associated anomaly detected pre- or postnatally, symptomatic infection was found in 1.5% (95% CI, 0.7-2.7%) (6/548; 19 studies) of infants, the overall rate of a neurodevelopmental anomaly was 3.1% (95% CI, 1.6-5.1%) (16/550; 19 studies), and hearing problems affected 6.5% (95% CI, 3.8-10.0%) (36/550; 19 studies) of children. Subanalyses according to the trimester in which maternal infection occurred were affected by the very small number of included cases and lack of comparison of the observed outcomes in the original studies. Compared with fetuses infected in the second or third trimester, those infected in the first trimester had a relatively higher risk of having an additional anomaly detected on follow-up ultrasound or MRI, abnormal neurodevelopmental outcome and hearing problems. CONCLUSIONS: In fetuses with congenital CMV infection in which no anomalies are detected on prenatal ultrasound or MRI, the risk of adverse postnatal outcome is lower than that reported previously in the published literature when not considering the role of antenatal imaging assessment. The results from this review also highlight the potential role of MRI, even in fetuses with no anomalies detected on ultrasound, as an anomaly can be detected exclusively on MRI in about 6% of cases. The findings from this study could enhance prenatal counseling of pregnancies with congenital CMV infection with normal prenatal imaging. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Infecções por Citomegalovirus/embriologia , Feto/diagnóstico por imagem , Malformações do Sistema Nervoso/diagnóstico por imagem , Complicações Infecciosas na Gravidez/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Adulto , Citomegalovirus , Infecções por Citomegalovirus/congênito , Feminino , Feto/virologia , Humanos , Imageamento por Ressonância Magnética , Malformações do Sistema Nervoso/embriologia , Malformações do Sistema Nervoso/virologia , Gravidez , Complicações Infecciosas na Gravidez/virologia , Resultado da Gravidez , Ultrassonografia Pré-Natal
5.
Ann Ig ; 32(5 Supple 1): 52-65, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33146367

RESUMO

In recent years, growing interest was devoted to housing conditions from both scientific community and public health, so they are now considered among the main environmental and social health determinants of health of the population. Aim of the study is to analyze and compare the current regulations regarding housing sanitary requirements in different Countries of the EU (Sweden, United Kingdom, Denmark, the Netherlands, France, Germany, Portugal, Spain) with the contents of the Italian Health Ministerial Decree 5th July 1975. From the websites of the official channels of the various countries the regulations have been downloaded. For the comparison, only the aspects of BCs concerning the scale of the building were examined; the comparison concerned all the requirements of the Health Ministerial Decree of 5.07.1975 and some other parameters (e.g. indoor chemical pollution, ionizing radiation, non-ionizing radiation) not provided for in the Ministerial Decree, treated in the other standards regulations, and relevant for the indoor well-being of the occupants. The authors observe a wide variability in the contents and in the formulation of the hygienic-sanitary requirements among the different Building Codes, above all as regards the dimensional data and some fundamental themes (e.g. heating systems, mechanical ventilation) whose treatment is often not it is updated with respect to the technological-scientific innovation consolidated over the past few years. A diverse approach among European Countries is also observed: from a market-oriented logic (e.g. UK), to a prescriptive one (Italy), to a functionality-oriented (the Netherlands). The comparative analysis we carried out made it possible to identify convergences and divergences in the standards analysed for the different European countries. As far as the Italian legislation on the usability of residential premises, finally, considering the health, social, environmental and economic trends, many standards contained in the MD 5th July 1975 should be reviewed and updated.


Assuntos
Habitação/normas , Higiene/normas , Saúde Pública , Códigos de Obras/legislação & jurisprudência , Europa (Continente) , Habitação/legislação & jurisprudência , Humanos , Higiene/legislação & jurisprudência , Itália
6.
AJNR Am J Neuroradiol ; 41(12): 2370-2376, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33093132

RESUMO

BACKGROUND AND PURPOSE: Although developmental venous anomalies have been frequently studied in adults and occasionally in children, data regarding these entities are scarce in neonates. We aimed to characterize clinical and neuroimaging features of neonatal developmental venous anomalies and to evaluate any association between MR imaging abnormalities in their drainage territory and corresponding angioarchitectural features. MATERIALS AND METHODS: We reviewed parenchymal abnormalities and angioarchitectural features of 41 neonates with developmental venous anomalies (20 males; mean corrected age, 39.9 weeks) selected through a radiology report text search from 2135 neonates who underwent brain MR imaging between 2008 and 2019. Fetal and longitudinal MR images were also reviewed. Neurologic outcomes were collected. Statistics were performed using χ2, Fisher exact, Mann-Whitney U, or t tests corrected for multiple comparisons. RESULTS: Developmental venous anomalies were detected in 1.9% of neonatal scans. These were complicated by parenchymal/ventricular abnormalities in 15/41 cases (36.6%), improving at last follow-up in 8/10 (80%), with normal neurologic outcome in 9/14 (64.2%). Multiple collectors (P = .008) and larger collector caliber (P < .001) were significantly more frequent in complicated developmental venous anomalies. At a patient level, multiplicity (P = .002) was significantly associated with the presence of ≥1 complicated developmental venous anomaly. Retrospective fetal detection was possible in 3/11 subjects (27.2%). CONCLUSIONS: One-third of neonatal developmental venous anomalies may be complicated by parenchymal abnormalities, especially with multiple and larger collectors. Neuroimaging and neurologic outcomes were favorable in most cases, suggesting a benign, self-limited nature of these vascular anomalies. A congenital origin could be confirmed in one-quarter of cases with available fetal MR imaging.


Assuntos
Malformações Vasculares/diagnóstico por imagem , Malformações Vasculares/patologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feminino , Seguimentos , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Neuroimagem/métodos , Estudos Retrospectivos
7.
Ultrasound Obstet Gynecol ; 56(6): 811-820, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32330342

RESUMO

OBJECTIVES: To report the outcome of pregnancies complicated by twin-twin transfusion syndrome (TTTS) according to Quintero stage. METHODS: MEDLINE, EMBASE and CINAHL databases were searched for studies reporting the outcome of pregnancies complicated by TTTS stratified according to Quintero stage (I-V). The primary outcome was fetal survival rate according to Quintero stage. Secondary outcomes were gestational age at birth, preterm birth (PTB) before 34, 32 and 28 weeks' gestation and neonatal morbidity. Outcomes are reported according to the different management options (expectant management, laser therapy or amnioreduction) for pregnancies with Stage-I TTTS. Only cases treated with laser therapy were considered for those with Stages-II-IV TTTS and only cases managed expectantly were considered for those with Stage-V TTTS. Random-effects head-to-head meta-analysis was used to analyze the extracted data. RESULTS: Twenty-six studies (2699 twin pregnancies) were included. Overall, 610 (22.6%) pregnancies were diagnosed with Quintero stage-I TTTS, 692 (25.6%) were Stage II, 1146 (42.5%) were Stage III, 247 (9.2%) were Stage IV and four (0.1%) were Stage V. Survival of at least one twin occurred in 86.9% (95% CI, 84.0-89.7%) (456/552) of pregnancies with Stage-I, in 85% (95% CI, 79.1-90.1%) (514/590) of those with Stage-II, in 81.5% (95% CI, 76.6-86.0%) (875/1040) of those with Stage-III, in 82.8% (95% CI, 73.6-90.4%) (172/205) of those with Stage-IV and in 54.6% (95% CI, 24.8-82.6%) (5/9) of those with Stage-V TTTS. The rate of a pregnancy with no survivor was 11.8% (95% CI, 8.4-15.8%) (69/564) in those with Stage-I, 15.0% (95% CI, 9.9-20.9%) (76/590) in those with Stage-II, 18.6% (95% CI, 14.2-23.4%) (165/1040) in those with Stage-III, 17.2% (95% CI, 9.6-26.4%) (33/205) in those with Stage-IV and in 45.4% (95% CI, 17.4-75.2%) (4/9) in those with Stage-V TTTS. Gestational age at birth was similar in pregnancies with Stages-I-III TTTS, and gradually decreased in those with Stages-IV and -V TTTS. Overall, the incidence of PTB and neonatal morbidity increased as the severity of TTTS increased, but data on these two outcomes were limited by the small sample size of the included studies. When stratifying the analysis of pregnancies with Stage-I TTTS according to the type of intervention, the rate of fetal survival of at least one twin was 84.9% (95% CI, 70.4-95.1%) (94/112) in cases managed expectantly, 86.7% (95% CI, 82.6-90.4%) (249/285) in those undergoing laser therapy and 92.2% (95% CI, 84.2-97.6%) (56/60) in those after amnioreduction, while the rate of double survival was 67.9% (95% CI, 57.0-77.9%) (73/108), 69.7% (95% CI, 61.6-77.1%) (203/285) and 80.8% (95% CI, 62.0-94.2%) (49/60), respectively. CONCLUSIONS: Overall survival in monochorionic diamniotic pregnancies affected by TTTS is higher for earlier Quintero stages (I and II), but fetal survival rates are moderately high even in those with Stage-III or -IV TTTS when treated with laser therapy. Gestational age at birth was similar in pregnancies with Stages-I-III TTTS, and gradually decreased in those with Stages-IV and -V TTTS treated with laser and expectant management, respectively. In pregnancies affected by Stage-I TTTS, amnioreduction was associated with slightly higher survival compared with laser therapy and expectant management, although these findings may be confirmed only by future head-to-head randomized trials. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Resultado del síndrome de transfusión feto-fetal según el estadio de Quintero de la enfermedad: revisión sistemática y metaanálisis OBJETIVOS: Informar sobre el resultado de los embarazos complicados por el síndrome de transfusión feto-fetal (TTTS, por sus siglas en inglés) según el estadio de Quintero. MÉTODOS: Se hicieron búsquedas en las bases de datos de MEDLINE, EMBASE y CINAHL de estudios que hubieran informado sobre el resultado de embarazos complicados por TTTS, estratificados según el estadio de Quintero (I-V). El resultado primario fue la tasa de supervivencia fetal según el estadio de Quintero. Los resultados secundarios fueron la edad gestacional al nacer, el parto pretérmino (PPT) antes de las 34, 32 y 28 semanas de gestación y la morbilidad neonatal. Los resultados se reportan de acuerdo con las diferentes opciones de tratamiento (expectante, terapia de láser o amniorreducción) para los embarazos con TTTS en Estadio I. Sólo se consideraron los casos tratados con terapia de láser para aquellos con TTTS de las Etapas II-IV y sólo se consideraron los casos tratados de manera expectante para aquellos con TTTS de la Etapa V. Para analizar los datos extraídos se utilizó un metaanálisis directo de efectos aleatorios. RESULTADOS: Se incluyeron veintiséis estudios (2699 embarazos de gemelos). En total, 610 (22,6%) embarazos fueron diagnosticados con TTTS de Estadio I de Quintero, 692 (25,6%) de Estadio II, 1146 (42,5%) de Estadio III, 247 (9,2%) de Estadio IV y cuatro (0,1%) de Estadio V. La supervivencia de al menos un gemelo se produjo en el 86,9% (IC 95%, 84,0-89,7%) (456/552) de los embarazos en Estadio I, en el 85% (IC 95%, 79,1-90,1%) (514/590) de aquellos en Estadio II, en el 81,5% (IC 95%, 76,6-86,0%) (875/1040) de aquellos en Estadio-III, en el 82,8% (IC 95%, 73,6-90,4%) (172/205) de aquellos en Estadio-IV y en el 54,6% (IC 95%, 24,8-82,6%) (5/9) de aquellos en Estadio-V de TTTS. La tasa de embarazos sin supervivientes fue del 11,8% (IC 95%, 8,4-15,8%) (69/564) de aquellos en Estadio-I, 15,0% (IC 95%, 9,9-20,9%) (76/590) de aquellos en Estadio-II, 18,6% (IC 95%, 14,2-23,4%) (165/1040) de aquellos en Estadio-III, 17,2% (IC 95%, 9,6-26,4%) (33/205) de aquellos en Estadio-IV y en el 45,4% (IC 95%, 17,4-75,2%) (4/9) de aquellos en Estadio-V de TTTS. La edad gestacional al nacer fue similar en los embarazos con TTTS en los Estadios I-III, y disminuyó gradualmente en aquellos con TTTS en los Estadios IV y V. En general, la incidencia de PPT y la morbilidad neonatal aumentaron a medida que se incrementó la gravedad del TTTS, pero los datos sobre estos dos resultados se vieron limitados por el pequeño tamaño de la muestra de los estudios incluidos. Al estratificar el análisis de los embarazos con TTTS en Estadio I según el tipo de tratamiento, la tasa de supervivencia fetal de al menos un gemelo fue del 84,9% (IC 95%, 70,4-95,1%) (94/112) en los casos tratados de forma expectante, del 86,7% (IC 95%, 82,6-90.4%) (249/285) en los sometidos a terapia láser y del 92,2% (IC 95%, 84,2-97,6%) (56/60) en los sometidos a amniorreducción, mientras que la tasa de supervivencia doble fue del 67,9% (IC 95%, 57,0-77,9%) (73/108), del 69,7% (IC 95%, 61,6-77,1%) (203/285) y del 80,8% (IC 95%, 62,0-94,2%) (49/60), respectivamente. CONCLUSIONES: La supervivencia en general en los embarazos biamnióticos monocoriónicos afectados por TTTS es mayor en los estadios tempranos de Quintero (I y II), pero las tasas de supervivencia fetal son moderadamente altas incluso en aquellos con TTTS en estadios III o IV cuando se tratan con terapia láser. La edad gestacional al nacer fue similar en los embarazos con TTTS en los Estadios I-III, y disminuyó gradualmente en aquellos con TTTS en los Estadios IV y V tratados con láser y tratamiento expectante, respectivamente. En los embarazos afectados por TTTS en Estadio I, la amniorreducción estuvo asociada con una supervivencia ligeramente mayor en comparación con la terapia de láser y el tratamiento expectante, aunque estos hallazgos solo pueden confirmarse mediante futuros estudios aleatorizados directos. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.


Assuntos
Transfusão Feto-Fetal/mortalidade , Fetoscopia/mortalidade , Terapia a Laser/mortalidade , Gravidez de Gêmeos/estatística & dados numéricos , Conduta Expectante/estatística & dados numéricos , Feminino , Mortalidade Fetal , Transfusão Feto-Fetal/patologia , Transfusão Feto-Fetal/terapia , Idade Gestacional , Humanos , Gravidez , Resultado da Gravidez
8.
Mult Scler Relat Disord ; 38: 101518, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31778927

RESUMO

BACKGROUND: Posterior fossa syndrome (PFS) is a rare manifestation of ponto-mesencephalic lesions frequently reported in post-surgical pediatric tumors, rarely described as a consequence of vascular, infective or inflammatory lesions. OBJECTIVE: The aim of this article is to report the clinical and neuroradiological characteristics of a patient with an acute PFS presentation as a relapse in relapsing-remitting MS, significantly responsive to Alemtuzumab treatment. CASE REPORT: 24-year-old patient affected by multiple sclerosis developed motor-cognitive and behavioral syndrome related to an extensive ponto-mesencephalic lesion under Fingolimod treatment. CONCLUSION: Our case highlights the significant and rapid effect of Alemtuzumab therapy on both cognitive and motor symptoms occurring during a MS relapse with atypical neuroradiological localization.


Assuntos
Alemtuzumab/farmacologia , Sintomas Comportamentais/etiologia , Encefalopatias/etiologia , Disfunção Cognitiva/etiologia , Fatores Imunológicos/farmacologia , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Mutismo/etiologia , Adulto , Alemtuzumab/administração & dosagem , Sintomas Comportamentais/tratamento farmacológico , Sintomas Comportamentais/fisiopatologia , Encefalopatias/tratamento farmacológico , Encefalopatias/patologia , Encefalopatias/fisiopatologia , Tronco Encefálico/patologia , Disfunção Cognitiva/tratamento farmacológico , Disfunção Cognitiva/fisiopatologia , Cloridrato de Fingolimode/administração & dosagem , Humanos , Fatores Imunológicos/administração & dosagem , Imageamento por Ressonância Magnética , Mutismo/tratamento farmacológico , Mutismo/fisiopatologia , Recidiva , Substância Branca/patologia , Adulto Jovem
9.
Rev Sci Instrum ; 90(8): 083303, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31472608

RESUMO

The Time-of-Flight (TOF) technique coupled with semiconductorlike detectors, as silicon carbide and diamond, is one of the most promising diagnostic methods for high-energy, high repetition rate, laser-accelerated ions allowing a full on-line beam spectral characterization. A new analysis method for reconstructing the energy spectrum of high-energy laser-driven ion beams from TOF signals is hereby presented and discussed. The proposed method takes into account the detector's working principle, through the accurate calculation of the energy loss in the detector active layer, using Monte Carlo simulations. The analysis method was validated against well-established diagnostics, such as the Thomson parabola spectrometer, during an experimental campaign carried out at the Rutherford Appleton Laboratory (UK) with the high-energy laser-driven protons accelerated by the VULCAN Petawatt laser.

10.
Ann Ig ; 31(5): 482-495, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31304528

RESUMO

BACKGROUND: The study investigated 35 orthopedic OTs [17 with mixed flow (M-OTs), 18 with turbulent flow (T-OTs)]. METHODS: The OTs were divided into two categories based on recurring architectural and construction solutions, collected by a survey form: type-A (recently built or renovated rooms), and type-B (other OTs). Assessment of microbial air contamination (colony forming units (cfu)/m3 obtained by active sampling via Surface Air System) was then performed. RESULTS: In 97% of the OTs, a Total Viable Count (TVC) was within the limits recommended by ISPESL 2009; all A-type OTs, and 94% of B-type passed. The TVC of type-A OTs [median 15 cfu/m3, range 3-158] was lower than that of type-B OTs [median 28 cfu/m3, range 6-206], although the difference was not significant. The number of people in type-A [mean 8.6, range 6-11] was lower than in type-B [mean 9.6, range 7-13] OTs, and when adjusted to the volume of the OT (person/m3), showed a significant correlation with TVC (ρ = 0.383, p <0.05). CONCLUSIONS: In conclusion, the structural factors examined do not appear to significantly affect the microbiological air quality at the specific sampling point. However, further investigations are required to identify the factors that have the greatest effect on TVC.


Assuntos
Microbiologia do Ar/normas , Monitoramento Ambiental/métodos , Salas Cirúrgicas/normas , Procedimentos Ortopédicos/normas , Poluição do Ar , Poluição do Ar em Ambientes Fechados/prevenção & controle , Contagem de Colônia Microbiana , Hospitais/normas , Humanos , Ortopedia/normas
11.
AJNR Am J Neuroradiol ; 40(5): 899-902, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30846438

RESUMO

Morning glory syndrome is characterized by a congenital optic disc defect that resembles the eponymous flower. We present the MR imaging findings of 2 pediatric patients with morning glory disc anomaly and persisting embryonal infundibular recess, another rare malformative finding, a previously unreported association. Neuroradiologists should be aware of the possible presence of a persisting embryonal infundibular recess in patients with morning glory syndrome, to aid in the differential diagnosis including other pituitary malformations such as pituitary stalk duplication.


Assuntos
Disco Óptico/anormalidades , Doenças do Nervo Óptico/congênito , Hipófise/anormalidades , Terceiro Ventrículo/anormalidades , Anormalidades Múltiplas/patologia , Adolescente , Pré-Escolar , Humanos , Masculino , Disco Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Hipófise/diagnóstico por imagem , Síndrome , Terceiro Ventrículo/diagnóstico por imagem
12.
G Chir ; 40(4): 308-312, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32011982

RESUMO

INTRODUCTION: Intraductal papillary mucinous neoplasms (IPMN) are a rare group of pancreatic neoplasms. Often are asymptomatic and, when are symptomatic, patients complain sensation of weight in the abdomen or compression at the neighboring structures. In many cases the diagnosis is incidental, during a CT or MR performed for other raisons. CASE REPORT: We report a case of a 59-year-old woman with diagnosis of post-pancreatitis pseudocyst who, instead, was affected by an intraductal papillary mucinous neoplasm (IPMN), treated by us with pancreatoduodenectomy. DISCUSSION: The diagnosis of IPMN has increased in recent years thanks to an improvement in radiological investigation. The study of pancreatic lesions must be very careful and it is absolutely necessary that diagnostic imaging be accompanied by a correct clinical evaluation of the patient. CONCLUSION: A thorough anamnesis is required in patient with history of acute pancreatitis to avoid the mistake of exchanging an IPMN for a pseudocyst.


Assuntos
Adenocarcinoma Mucinoso/diagnóstico por imagem , Carcinoma Ductal Pancreático/diagnóstico por imagem , Carcinoma Papilar/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico por imagem , Pseudocisto Pancreático/diagnóstico por imagem , Adenocarcinoma Mucinoso/cirurgia , Carcinoma Ductal Pancreático/cirurgia , Carcinoma Papilar/cirurgia , Erros de Diagnóstico , Feminino , Humanos , Achados Incidentais , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias Pancreáticas/cirurgia , Pseudocisto Pancreático/etiologia , Pancreaticoduodenectomia , Pancreatite/complicações , Tomografia Computadorizada por Raios X , Ultrassonografia
13.
Radiat Prot Dosimetry ; 183(1-2): 177-181, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30535177

RESUMO

The tissue-equivalent proportional counter (TEPC) is the most accurate device for measuring the microdosimetric properties of a particle beam but, since the lower operation limit of common TEPCs is ~0.3 µm, no detailed information on the track structure of the impinging particles can be obtained. The pattern of particle interactions at the nanometric level is measured directly by only three different nanodosimeters worldwide: practical instruments are not yet available. In order to partially fill the gap between microdosimetry and track-nanodosimetry, a low-pressure avalanche-confinement TEPC was designed and constructed for simulating tissue-equivalent sites down to the nanometric region. The present paper aims at describing the response of this TEPC in the range 0.3 µm-25 nm to a 62 MeV/n 4He ion beam. The experimental results, for depths near the Bragg peak, show good agreement with FLUKA simulations and suggest that, for smaller depths, the distribution is highly influenced by secondary electrons.


Assuntos
Hélio/química , Nanotecnologia , Radiometria/instrumentação , Simulação por Computador , Desenho de Equipamento , Modelos Teóricos
14.
Phys Med ; 54: 166-172, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30076107

RESUMO

The main purpose of this paper is to quantitatively study the possibility of delivering dose distributions of clinical relevance with laser-driven proton beams. A Monte Carlo application has been developed with the Geant4 toolkit, simulating the ELIMED (MEDical and multidisciplinary application at ELI-Beamlines) transport and dosimetry beam line which is being currently installed at the ELI-Beamlines in Prague (CZ). The beam line will be used to perform irradiations for multidisciplinary studies, with the purpose of demonstrating the possible use of optically accelerated ion beams for therapeutic purposes. The ELIMED Geant4-based application, already validated against reference transport codes, accurately simulates each single element of the beam line, necessary to collect the accelerated beams and to select them in energy. Transversal dose distributions at the irradiation point have been studied and optimized to try to quantitatively answer the question if such kind of beam lines, and specifically the systems developed for ELIMED in Prague, will be actually able to transport ion beams not only for multidisciplinary applications, such as pitcher-catcher nuclear reactions (e.g. neutrons), PIXE analysis for cultural heritage and space radiation, but also for delivering dose patterns of clinical relevance in a future perspective of possible medical applications.


Assuntos
Lasers , Método de Monte Carlo , Aceleradores de Partículas , Terapia com Prótons/instrumentação , Doses de Radiação , Radiometria , Dosagem Radioterapêutica
15.
Med Phys ; 2018 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-29905964

RESUMO

PURPOSE: In situ drug release concurrent with radiation therapy has been proposed to enhance the therapeutic ratio of permanent prostate brachytherapy. Both brachytherapy sources and brachytherapy spacers have been proposed as potential eluters to release compounds, such as nanoparticles or chemotherapeutic agents. The relative effectiveness of the approaches has not been compared yet. This work models the physical dose enhancement of implantable eluters in conjunction with brachytherapy to determine which delivery mechanism provides greatest opportunity to enhance the therapeutic ratio. MATERIALS AND METHODS: The combined effect of implanted eluters and radioactive sources were modeled in a manner that allowed the comparison of the relative effectiveness of different types of implantable eluters over a range of parameters. Prostate geometry, source, and spacer positions were extracted from treatment plans used for 125 I permanent prostate implants. Compound concentrations were calculated using steady-state solution to the diffusion equation including an elimination term characterized by the diffusion-elimination modulus (ϕb ). Does enhancement was assumed to be dependent on compound concentration up to a saturation concentration (csat ). Equivalent uniform dose (EUD) was used as an objective to determine the optimal configuration of eluters for a range of diffusion-elimination moduli, concentrations, and number of eluters. The compound delivery vehicle that produced the greatest enhanced dose was tallied for points in parameter space mentioned to determine the conditions under whether there are situations where one approach is preferable to the other. RESULTS: The enhanced effect of implanted eluters was calculated for prostate volumes from 14 to 45 cm3 , ϕb from 0.01 to 4 mm-1 , csat from 0.05 to 7.5 times the steady-state compound concentration released from the surface of the eluter. The number of used eluters (ne ) was simulated from 10 to 60 eluters. For the region of (csat , Φ)-space that results in a large fraction of the gland being maximally sensitized, compound eluting spacers or sources produce equal increase in EUD. In the majority of the remaining (csat , Φ)-space, eluting spacers result in a greater EUD than sources even where sources often produce greater maximal physical dose enhancement. Placing eluting implants in planned locations throughout the prostate results in even greater enhancement than using only source or spacer locations. CONCLUSIONS: Eluting brachytherapy spacers offer an opportunity to increase EUD during the routine brachytherapy process. Incorporating additional needle placements permits compound eluting spacer placement independent of source placement and thereby allowing a further increase in the therapeutic ratio. Additional work is needed to understand the in vivo spatial distribution of compound around eluters, and to incorporate time dependence of both compound release and radiation dose.

17.
Clin Genet ; 93(6): 1234-1239, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29457652

RESUMO

Congenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy. Muscle histology is also heterogeneous showing rods and/or myofibrillar changes. Here, we report on three new cases, from two unrelated families, of severe CM related to novel homozygous or compound heterozygous loss-of-function mutations in CFL2. Peculiar histopathological changes showed nemaline bodies and thin filaments accumulations together to myofibrillar changes, which were evocative of the muscle findings observed in Cfl2-/- knockout mouse model.


Assuntos
Cofilina 2/genética , Doenças Musculares/patologia , Adolescente , Sequência de Aminoácidos , Animais , Criança , Pré-Escolar , Cofilina 2/química , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Camundongos , Músculo Esquelético/patologia , Adulto Jovem
18.
Phys Rev Lett ; 120(2): 025302, 2018 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-29376686

RESUMO

We study the emergence of dissipation in an atomic Josephson junction between weakly coupled superfluid Fermi gases. We find that vortex-induced phase slippage is the dominant microscopic source of dissipation across the Bose-Einstein condensate-Bardeen-Cooper-Schrieffer crossover. We explore different dynamical regimes by tuning the bias chemical potential between the two superfluid reservoirs. For small excitations, we observe dissipation and phase coherence to coexist, with a resistive current followed by well-defined Josephson oscillations. We link the junction transport properties to the phase-slippage mechanism, finding that vortex nucleation is primarily responsible for the observed trends of conductance and critical current. For large excitations, we observe the irreversible loss of coherence between the two superfluids, and transport cannot be described only within an uncorrelated phase-slip picture. Our findings open new directions for investigating the interplay between dissipative and superfluid transport in strongly correlated Fermi systems, and general concepts in out-of-equilibrium quantum systems.

19.
Phys Rev Lett ; 121(25): 253602, 2018 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-30608797

RESUMO

We exploit a time-resolved pump-probe spectroscopic technique to study the out-of-equilibrium dynamics of an ultracold two-component Fermi gas, selectively quenched to strong repulsion along the upper branch of a broad Feshbach resonance. For critical interactions, we find the rapid growth of short-range anticorrelations between repulsive fermions to initially overcome concurrent pairing processes. At longer evolution times, these two competing mechanisms appear to macroscopically coexist in a short-range correlated state of fermions and pairs, unforeseen thus far. Our work provides fundamental insights into the fate of a repulsive Fermi gas, and offers new perspectives towards the exploration of complex dynamical regimes of fermionic matter.

20.
J Pediatr Genet ; 6(3): 181-185, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28794912

RESUMO

Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21.3 deletion. This deletion includes the genes DLX5 and DLX6 , which could be the candidate genes for the ear malformation named incomplete partition, type 2.

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