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OBJECTIVE: To define the electroclinical phenotype and long-term outcomes in a cohort of patients with inv dup (15) syndrome. MATERIAL AND METHODS: The electroclinical data of 45 patients (25 males) affected by inv dup (15) and seizures were retrospectively analysed, and long-term follow-up of epilepsy was evaluated. RESULTS: Epilepsy onset was marked by generalized seizures in 53% of patients, epileptic spasms in 51%, focal seizures in 26%, atypical absences in 11% and epileptic falls in 9%. The epileptic syndromes defined were: generalized epilepsy (26.7%), focal epilepsy (22.3%), epileptic encephalopathy with epileptic spasms as the only seizure type (17.7%) and Lennox-Gastaut syndrome (33.3%). Drug-resistant epilepsy was detected in 55.5% of patients. There was a significant higher prevalence of seizure-free patients in those with seizure onset after the age of 5 years and with focal epilepsy, with respect to those with earlier epilepsy onset because most of these later developed an epileptic encephalopathy (69.2% vs 34.4%; P = .03), usually Lennox-Gastaut Syndrome in type. In fact, among patients with early-onset epilepsy, those presenting with epileptic spasms as the only seizure type associated with classical hypsarrhythmia achieved seizure freedom (P < .001) compared to patients with spasms and other seizure types associated with modified hypsarrhythmia. CONCLUSIONS: Epilepsy in inv dup (15) leads to a more severe burden of disease. Frequently, these patients show drug resistance, in particular when epilepsy onset is before the age of five and features epileptic encephalopathy.
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Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/fisiopatologia , Eletroencefalografia/tendências , Epilepsia/diagnóstico , Epilepsia/fisiopatologia , Adolescente , Criança , Cromossomos Humanos Par 15 , Estudos de Coortes , Eletroencefalografia/métodos , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/fisiopatologia , Fatores de Tempo , Resultado do TratamentoRESUMO
INTRODUCTION: Tinea nigra is a superficial mycosis caused by Hortaea werneckii. Its clinical characte ristic is the appearance of a blackish brown macula of rapid growth, caused by the pigment produced by the fungus itself. The presence of a dark, fast growing, acral pigmentary lesion causes concern among patients and their treating physician about the possibility of a malignant pigmentary lesion. OBJECTIVE: To present a series of three clinical cases in pediatric patients with this pathology and to show the tools that help to make a differential diagnosis. CLINICAL CASES: Three patients between three and five years of age, which present a macular pigmented lesion on palms or soles, whose parents reported a rapid growth over a short period of time. Two of the patients reported previous trips to the Caribbean. Clinical and dermatoscopy suspicion of tinea nigra lead to a direct mycological exa mination, which confirmed the diagnosis. In all three cases, treatment with topical antifungals led to complete healing of the lesions. CONCLUSIONS: Although tinea nigra is rare in a dry climate, increasing travel of patients to tropical countries will increase the number of cases. Dermatoscopy and direct mycological examination are the tools that allow performing a correct diagnosis and avoiding unne cessary biopsies and/or surgeries.
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Exophiala/isolamento & purificação , Feoifomicose/diagnóstico , Tinha/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Humanos , Masculino , Feoifomicose/microbiologia , Tinha/microbiologiaRESUMO
INTRODUCTION: Nail alterations in children are an important cause of parent anxiety and derive in multiple and unnecessary consultations. The onychomadesis corresponds to the complete and pain less detachment of the nail plate from the proximal fold. This self-resolving nail finding has been described as a late complication of hand-foot-mouth disease, a frequent viral exanthema in the pedia tric age. OBJECTIVE: To describe a classic pediatric case of hand-foot-mouth disease with subsequent onychomadesis. CLINICAL CASE: A 3-years-old male patient with an acute presentation of acute erythe matous perioral papulovesicles, which extend to upper extremities and hands, buttocks, thighs and feet, asymptomatic, and without compromising general condition. Skin lesions resolve completely, but after one month, he develops detachment of the nails, with subsequent complete recovery. Con clusions: The recognition of this association will allow primary care physicians to guide the parents about a benign and self-resolving process that may occur as part of the evolution of hand-foot-mouth disease, thus avoiding unnecessary anxiety, referral and treatments.
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Doença de Mão, Pé e Boca/diagnóstico , Doenças da Unha/etiologia , Pré-Escolar , Doença de Mão, Pé e Boca/complicações , Humanos , MasculinoRESUMO
BACKGROUND: This study was designed to assess patterns of recurrence and long-term outcomes of patients undergoing surgery for localized retroperitoneal sarcoma (RPS) after neoadjuvant high dose long-infusion ifosfamide (HLI) and radiotherapy (RT). METHODS: Patients received three cycles of HLI (14 g/m2). RT was started in combination with II cycle up to a total dose of 50.4 Gy. Surgery was scheduled 4-6 weeks after the end of RT. The primary endpoint was relapse-free survival (RFS) after surgery. Secondary endpoints were overall survival (OS), crude cumulative incidence of local recurrence (CCI-LR), and distant metastases (CCI-DM). For patients who relapsed, progression-free survival (PFS) and post-relapse OS were estimated. The trial was registered with ITASARC_*II_2004_003. RESULTS: Between 2003 and 2010, 83 patients were recruited. At a median follow-up of 91.7 months, 42 (56%) of 75 operated patients developed LR (n = 27) or DM (n = 10) or both LR and DM (n = 5) relapse. Seven-year RFS was 46.6% [95% confidence interval (CI) 29.6-52.4]. Thirty-two patients died. Seven-year OS rate was 63.2% (95% CI 42.7-66.0). The corresponding CCI of LR and DM were 37.4% [standard error (SE) 5.5%] and 20.0% (SE 12.6%), respectively. The only factor significantly associated with LR was FNCLCC grading, whereas histological subtype resulted associated with DM. At recurrence, 24 patients (57%) underwent surgery. Two-year post-relapse PFS and OS rates for patients developing LR or DM were 14.8, 41.0, 27.3, and 63.6%, respectively. CONCLUSIONS: LR after neoadjuvant CT-RT for RPS were predominantly infield. While almost one half of relapsed patients underwent further surgery, prognosis was poor.
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Quimiorradioterapia , Ifosfamida/uso terapêutico , Terapia Neoadjuvante , Recidiva Local de Neoplasia/patologia , Neoplasias Retroperitoneais/patologia , Sarcoma/patologia , Adulto , Idoso , Antineoplásicos Alquilantes/uso terapêutico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/terapia , Prognóstico , Neoplasias Retroperitoneais/terapia , Sarcoma/terapia , Taxa de SobrevidaRESUMO
BACKGROUND AND OBJECTIVES: Several transplantation outcomes have been shown to be associated with the infused bone marrow cell dose/kg of the recipient's body weight. The donor bone marrow density is directly related to the infused cell dose. The aim of the present study was to identify donor-related variables that are associated with high donor bone marrow density. MATERIALS AND METHODS: We retrospectively analysed the predictive factors of high marrow density in 65 consecutive HLA-haploidentical bone marrow donors harvested at our centre between 2009 and 2013. RESULTS: Body mass index (BMI) and peripheral white blood cell (WBC) count were directly associated with bone marrow density (regression coefficient ß = 5·33 and ß = 2·93, respectively; P < 0·01). The likelihood of obtaining a collection with a high density was first predicted using BMI (BMI ≥30, mean density = 25·8 TNC/ml × 10(6) ). Second, donors with a BMI <30 were split into two groups according to peripheral WBC count (WBC <8 × 10(3) /mm(3) : mean density = 18·4 TNC/ml × 10(6) ; WBC ≥8 × 10(3) /mm(3) : mean density = 23·1 TNC/ml × 10(6) ). We also observed that the density of the first collected bag directly correlated with the overall density (R(2) = 0·69, P < 0·01). CONCLUSION: The donor-related features BMI and WBC count affect the cell quantity obtainable with the harvest and should be taken into account when choosing the donor.
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Peso Corporal/efeitos dos fármacos , Transplante de Medula Óssea , Ciclofosfamida/farmacologia , Adolescente , Adulto , Idoso , Antígenos CD34/metabolismo , Doadores de Sangue , Índice de Massa Corporal , Células da Medula Óssea/citologia , Feminino , Humanos , Tempo de Internação , Contagem de Leucócitos , Leucócitos/imunologia , Leucócitos/metabolismo , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND AND PURPOSE: Our aim was to describe the clinical and electrical features and the long-term evolution of childhood occipital epilepsy of Gastaut (COE-G) in a cohort of patients and to compare long-term prognosis between patients with and without other epileptic syndromes. METHODS: This was a retrospective analysis of the long-term outcome of epilepsy in 129 patients with COE-G who were referred to 23 Italian epilepsy centres and one in Austria between 1991 and 2004. Patients were evaluated clinically and with electroencephalograms for 10.1-23.0 years. The following clinical characteristics were evaluated: gender, patient age at seizure onset, history of febrile seizures and migraine, family history of epilepsy, duration and seizure manifestations, circadian distribution and frequency of seizures, history of medications including the number of drugs, therapeutic response and final outcome. RESULTS: Visual hallucinations were the first symptom in 62% and the only manifestation in 38.8% of patients. Patients were subdivided into two groups: group A with isolated COE-G; group B with other epileptic syndromes associated with COE-G. The most significant (P < 0.05) difference concerned antiepileptic therapy: in group A, 45 children responded to monotherapy; in group B only 15 children responded to monotherapy. At the end of follow-up, the percentage of seizure-free patients was significantly higher in group A than in group B. CONCLUSIONS: Childhood occipital epilepsy of Gastaut has an overall favourable prognosis and a good response to antiepileptic therapy with resolution of seizures and of electroencephalogram abnormalities. The association of typical COE-G symptoms with other types of seizure could be related to a poor epilepsy outcome.
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Anticonvulsivantes/farmacologia , Síndrome de Lennox-Gastaut , Lobo Occipital/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Adolescente , Adulto , Áustria , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Lactente , Síndrome de Lennox-Gastaut/diagnóstico , Síndrome de Lennox-Gastaut/tratamento farmacológico , Síndrome de Lennox-Gastaut/fisiopatologia , Masculino , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: The incidence of malignant pleural mesothelioma (MPM) in elderly patients is increasing. There are no specific guidelines for their management. METHODS: The clinical records of elderly patients (⩾70 years old) with MPM referred from January 2005 to November 2011 to six Italian Centres were reviewed. Age, gender, histology, International Mesothelioma Interest Group (IMIG) stage, Eastern Cooperative Oncology Group Performance Status (ECOG-PS), Charlson Comorbidity Index (CCI) and treatment modalities were analysed and correlated to overall survival (OS). RESULTS: In total, 241 patients were identified. Charlson Comorbidity Index was ⩾1 in 92 patients (38%). Treatment was multimodality therapy including surgery in 18, chemotherapy alone in 180 (75%) and best supportive care in 43 cases (18%). Chemotherapy was mainly pemetrexed based. Median OS was 11.4 months. Non-epithelioid histology (HR 2.32; 95% CI 1.66-3.23, P<0.001), age ⩾75 years (HR 1.44; 95% CI 1.08-1.93, P=0.014), advanced (III-IV) stage (HR 1.47; 95% CI 1.09-1.98, P=0.011) and CCI⩾1 (HR 1.38; 95% CI 1.02-1.85, P=0.034) were associated to a shorter OS. Treatment with pemetrexed was associated with improved OS (HR 0.40; 95% CI 0.28-0.56, P<0.001). CONCLUSIONS: Non-epithelioid histology, age ⩾75 years, advanced IMIG stage and presence of comorbidities according to CCI were significant prognostic factors in elderly patients with MPM. Treatment with pemetrexed-based chemotherapy was feasible in this setting. Prospective dedicated trials in MPM elderly patients selected according to prognostic factors including comorbidity scales are warranted.
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Neoplasias Pulmonares/mortalidade , Mesotelioma/mortalidade , Neoplasias Pleurais/mortalidade , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Humanos , Itália/epidemiologia , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/terapia , Mesotelioma/patologia , Mesotelioma/terapia , Mesotelioma Maligno , Neoplasias Pleurais/patologia , Neoplasias Pleurais/terapia , Prognóstico , Análise de Sobrevida , Resultado do TratamentoRESUMO
Single magnetic Co atoms are deposited on atomically thin NaCl films on Au(111). Two different adsorption sites are revealed by high-resolution scanning tunneling microscopy (STM), i.e., at Na and at Cl locations. Using density functional based simulations of the STM images, we show that the Co atoms substitute with either a Na or Cl atom of the NaCl surface, resulting in cationic and anionic Co dopants with a high thermal stability. The dependence of the magnetic coupling between neighboring Co atoms on their separation is investigated via spatially resolved measurement of the local density of states.
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PURPOSE: The aim of our work is to describe the characteristics of Early Onset Absence Epilepsy (EOAE) and to observe whether specific anamnestic, clinical or electroencephalographic characteristics can influence the drug sensitivity of this pathology. METHODS: We carried out a retrospective study of patients affected by absence epilepsy with onset under four years of age, born between January 1st 2000 and December 31st 2018, who were reffered to the Regional Epilepsy Center of Spedali Civili of Brescia. We then divided the sample into three groups based on the age of onset. RESULTS: Our sample is composed of 56 patients. Among the children with epilepsy onset under two years of age (11), all were still on therapy after three and six years of follow-up, and 64 % of them required polytherapy. Among patients with epilepsy onset between two and three years of age (24), 87 % were still on therapy after three years of follow-up and 68 % after six years of follow-up; 46 % of these subjects required polytherapy. Among patients with epilepsy onset between three and four years of age (21), 89 % were still on therapy after three years of follow-up and 38 % after six years of follow-up; 38 % of them required polytherapy. CONCLUSIONS: We observe that patients with an earlier epilepsy onset have a worse outcome and a lower drug sensitivity. This may allow to predict in which cases it would be appropriate to maintain antiseizure therapy for a prolonged period.
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Idade de Início , Anticonvulsivantes , Epilepsia Tipo Ausência , Humanos , Epilepsia Tipo Ausência/tratamento farmacológico , Epilepsia Tipo Ausência/epidemiologia , Epilepsia Tipo Ausência/fisiopatologia , Feminino , Masculino , Pré-Escolar , Estudos Retrospectivos , Anticonvulsivantes/uso terapêutico , Lactente , Eletroencefalografia , Resultado do Tratamento , Criança , SeguimentosRESUMO
BACKGROUND: The World Health Organization (WHO) 2021 classification of central nervous system (CNS) tumors classified astrocytoma isocitrate dehydrogenase-mutant (A IDHm) with either microvascular proliferation and/or necrosis or homozygous deletion of CDKN2A/B as CNS grade 4 (CNS WHO G4), introducing a distinct entity and posing new challenges to physicians for appropriate management and prognostication. PATIENTS AND METHODS: We retrospectively collected information about patients diagnosed with A IDHm CNS WHO G4 at three reference neuro-oncological Italian centers and correlated them with survival. RESULTS: A total of 133 patients were included. Patients were young (median age 41 years) and most received post-operative treatment including chemo-radiation (n = 101) and/or temozolomide maintenance (n = 112). With a median follow-up of 51 months, the median overall survival (mOS) was 31.2 months, with a 5-year survival probability of 26%. In the univariate analysis, complete resection (mOS: 40.2 versus 26.3 months, P = 0.03), methyl-guaninemethyltransferase (MGMT) promoter methylation (mOS: 40.7 versus 18 months, P = 0.0136), and absence of telomerase reverse transcriptase (TERT) promoter mutation (mOS: 40.7 versus 18 months, P = 0.0003) correlated with better prognosis. In the multivariate models, lack of TERT promoter mutation [hazard ratio (HR) 0.23, 95% confidence interval (CI) 0.07-0.82, P = 0.024] and MGMT methylation (HR 0.40, 95% CI 0.20-0.81, P = 0.01) remained associated with improved survival. CONCLUSIONS: This is the largest experience in Western countries exploring the prognostic signature of patients with A IDHm CNS G4. Our results show that MGMT promoter methylation and TERT promoter mutation may impact clinical outcomes. This may support physicians in prognostication, clinical management, and design of future studies of this distinct diagnostic entity.
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Astrocitoma , Isocitrato Desidrogenase , Mutação , Humanos , Estudos Retrospectivos , Isocitrato Desidrogenase/genética , Astrocitoma/genética , Astrocitoma/mortalidade , Astrocitoma/terapia , Masculino , Feminino , Adulto , Prognóstico , Pessoa de Meia-Idade , Adulto Jovem , Neoplasias Encefálicas/genética , Enzimas Reparadoras do DNA/genética , Metilases de Modificação do DNA/genética , Idoso , Telomerase/genética , Adolescente , Gradação de Tumores , Metilação de DNA , Proteínas Supressoras de Tumor/genéticaRESUMO
BACKGROUND: The aim of this open label phase II study (NCT00407459) was to assess the activity of the vascular endothelial growth factor (VEGF) inhibitor bevacizumab combined with pemetrexed and carboplatin in patients with previously untreated, unresectable malignant pleural mesothelioma (MPM). METHODS: Eligible patients received pemetrexed 500 mg m(-2), carboplatin area under the plasma concentration-time curve (AUC) 5 mg ml(-1) per minute and bevacizumab 15 mg kg(-1), administered intravenously every 21 days for six cycles, followed by maintenance bevacizumab. The primary end point of the study was progression-free survival (PFS). A 50% improvement in median PFS in comparison with standard pemetrexed/platinum combinations (from 6 to 9 months) was postulated. RESULTS: Seventy-six patients were evaluable for analysis. A partial response was achieved in 26 cases (34.2%, 95% CI 23.7-46.0%). Forty-four (57.9%, 95% CI 46.0-69.1%) had stable disease. Median PFS and overall survival were 6.9 and 15.3 months, respectively. Haematological and non-haematological toxicities were generally mild; however, some severe adverse events were reported, including grade 3-4 fatigue in 8% and bowel perforation in 4% of patients. Three toxic deaths occurred. CONCLUSION: The primary end point of the trial was not reached. However, due to the limitation of a non-randomised phase II design, further data are needed before drawing any definite conclusion on the role of bevacizumab in MPM.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Mesotelioma/tratamento farmacológico , Neoplasias Pleurais/tratamento farmacológico , Adulto , Idoso , Anticorpos Monoclonais Humanizados/administração & dosagem , Anticorpos Monoclonais Humanizados/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Bevacizumab , Carboplatina/administração & dosagem , Carboplatina/efeitos adversos , Intervalo Livre de Doença , Feminino , Glutamatos/administração & dosagem , Glutamatos/efeitos adversos , Guanina/administração & dosagem , Guanina/efeitos adversos , Guanina/análogos & derivados , Humanos , Estimativa de Kaplan-Meier , Masculino , Mesotelioma/sangue , Pessoa de Meia-Idade , Pemetrexede , Neoplasias Pleurais/sangue , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/sangueRESUMO
INTRODUCTION: We investigated the activity and safety of sorafenib, a multitargeted tyrosine-kinase inhibitor, in patients with advanced soft tissue sarcomas (STS). PATIENTS AND METHODS: An open-label nonrandomised multicentre phase II study was conducted in advanced STS patients pre-treated with anthracycline-based chemotherapy. Patients received sorafenib 400 mg twice daily for 28 days. The primary end point was the progression-free survival (PFS) rate at 6 months. Toxicity was assessed. Clinical outcomes were evaluated in all histologies and in leiomyosarcoma (L) and angiovascular sarcomas (A). RESULTS: Between November 2006 and January 2010, 101 patients (36 L, 19 A, and 46 others) were enrolled; 76 patients per-protocol (PP) and 100 per intention-to-treat (ITT) were assessable for the primary end point. In the PP analysis, 11 (14.5%) achieved partial response and 25 (32.9%) stable disease; 6-month PFS rates were all histologies, 34.5%; L, 38.4%; and A, 56.3%. In the ITT analysis, 6-month PFS results were 27.1, 35, and 35.5% in all histologies, L, and A, respectively. When stratified by histology, we observed a better PFS favouring leiomyosarcoma versus other histologies (P = 0.033). Treatment was well tolerated. CONCLUSIONS: Sorafenib appears to be a promising option in leiomyosarcoma patients. This finding warrants further evaluation in histology-driven trials.
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Leiomiossarcoma/tratamento farmacológico , Niacinamida/análogos & derivados , Compostos de Fenilureia/administração & dosagem , Inibidores de Proteínas Quinases/administração & dosagem , Sarcoma/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Antraciclinas/administração & dosagem , Antraciclinas/efeitos adversos , Intervalo Livre de Doença , Feminino , Humanos , Leiomiossarcoma/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Niacinamida/administração & dosagem , Niacinamida/efeitos adversos , Compostos de Fenilureia/efeitos adversos , Estudos Prospectivos , Inibidores de Proteínas Quinases/efeitos adversos , Sarcoma/patologia , SorafenibeRESUMO
BACKGROUND: Sorafenib has shown survival benefits in patients with advanced hepatocellular carcinoma (HCC) and Child-Pugh (CP) class A liver function. There are few prospective data on sorafenib in patients with HCC and CP class B. PATIENTS AND METHODS: A consecutive prospective series of 300 patients with CP class A or B HCC were enrolled in a dual-phase trial to determine survival and safety data according to liver function (class A or B) in patients receiving oral sorafenib 800 mg daily. [Results of this study were presented in part at the ASCO 2012 Gastrointestinal Cancers Symposium, 19-21 January 2012. J Clin Oncol 2012; 30 (Suppl 4): abstract 306.] RESULTS: Overall progression-free survival (PFS), time to progression (TTP) and overall survival (OS) were 3.9, 4.1 and 9.1 months, respectively. For patients with CP class A versus B status, PFS was 4.3 versus 2.1 months, TTP was 4.2 versus 3.8 months and OS was 10.0 versus 3. 8 months. Extrahepatic spread was associated with worse outcomes but taken together with CP class, liver function played a greater role in reducing survival. Adverse events for the two CP groups were similar. CONCLUSION: Although patients with HCC and CP class B liver function have poorer outcomes than those with CP class A function, data suggest that patients with CP class B liver function can tolerate treatment and may still benefit from sorafenib.
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Antineoplásicos/uso terapêutico , Carcinoma Hepatocelular/tratamento farmacológico , Neoplasias Hepáticas/tratamento farmacológico , Niacinamida/análogos & derivados , Compostos de Fenilureia/uso terapêutico , Idoso , Antineoplásicos/efeitos adversos , Carcinoma Hepatocelular/mortalidade , Intervalo Livre de Doença , Estudos de Viabilidade , Feminino , Humanos , Fígado/metabolismo , Fígado/patologia , Neoplasias Hepáticas/mortalidade , Masculino , Niacinamida/efeitos adversos , Niacinamida/uso terapêutico , Compostos de Fenilureia/efeitos adversos , Estudos Prospectivos , Inibidores de Proteínas Quinases/efeitos adversos , Inibidores de Proteínas Quinases/uso terapêutico , Índice de Gravidade de Doença , Sorafenibe , Taxa de Sobrevida , Resultado do TratamentoRESUMO
Population-based screening for early detection and treatment of colorectal cancer (CRC) and precursor lesions, using evidence-based methods, can be effective in populations with a significant burden of the disease provided the services are of high quality. Multidisciplinary, evidence-based guidelines for quality assurance in CRC screening and diagnosis have been developed by experts in a project co-financed by the European Union. The 450-page guidelines were published in book format by the European Commission in 2010.â They include 10 chapters and over 250 recommendations, individually graded according to the strength of the recommendation and the supporting evidence. Adoption of the recommendations can improve and maintain the quality and effectiveness of an entire screening process, including identification and invitation of the target population, diagnosis and management of the disease and appropriate surveillance in people with detected lesions. To make the principles, recommendations and standards in the guidelines known to a wider professional and scientific community and to facilitate their use in the scientific literature, the original content is presented in journal format in an open-access Supplement of Endoscopy. The editors have prepared the present overview to inform readers of the comprehensive scope and content of the guidelines.
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Neoplasias Colorretais/diagnóstico , Programas de Rastreamento/normas , Garantia da Qualidade dos Cuidados de Saúde , Detecção Precoce de Câncer , Europa (Continente) , Medicina Baseada em Evidências , HumanosRESUMO
BACKGROUND AND PURPOSES: To determine the prevalence of SLC2A1 mutations in children with early-onset absence epilepsy (EOAE) and to investigate whether there were differences in demographic and electroclinical data between patients who became seizure-free with anti-epileptic drug (AED) monotherapy (group I) and those who needed add-on treatment of a second AED (group II). METHODS: We reviewed children with EOAE attending different Italian epilepsy centers. All participants had onset of absence seizures within the first 3 years of life but otherwise conformed to a strict definition of childhood absence epilepsy. Mutation analysis of SLC2A1 was performed in each patient. RESULTS: Eighty-four children (57 in group I, 27 in group II) fulfilled the inclusion criteria. No mutation in SLC2A1 was found. There were no statistical differences between the two groups with regard to F/M ratio, age at onset of EOAE, early history of febrile seizures, first-degree family history for genetic generalized epilepsy, duration of AED therapy at 3 years after enrollment, use of AEDs at 3 years, failed withdrawals at 3 years, terminal remission of EOAE at 3 years, and 6-month follow-up EEG data. Mean duration of seizures/active epilepsy was significantly shorter in group I than in group II (P = 0.008). CONCLUSIONS: We demonstrate that in a large series of children with rigorous diagnosis of EOAE, no mutations in SLC2A1 gene are detected. Except for duration of seizures/active epilepsy, no significant differences in demographic and electroclinical aspects are observed between children with EOAE who responded well to AED monotherapy and those who became seizure-free with add-on treatment of a second AED.
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Anticonvulsivantes/uso terapêutico , Epilepsia Tipo Ausência/genética , Transportador de Glucose Tipo 1/genética , Mutação/genética , Anticonvulsivantes/administração & dosagem , Pré-Escolar , Quimioterapia Combinada , Epilepsia Tipo Ausência/tratamento farmacológico , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
A 16 year-old girl was admitted after suffering from recurrent episodes of dyspnea and stridor, cyanosis, loss of contact, stiffening of all four limbs, clenching of the jaw and eye retroversion that lasted for a few seconds to a minute, followed by slow recovery of consciousness without any loss of sphincter control. These symptoms began at the age of 11 and worsened over time. Prolonged rate corrected QT intervals was observed with an ECG. Two cardio-respiratory monitorings were performed (one during daytime hours while the patient was awake, and one at night time while the patient slept). Daytime recordings showed 17 central apnoeas and 97 central hypopneas, with an apnea-hypopnea index (AHI) of 13.2 events/hour, that were associated with severe oxyhemoglobin desaturation. In contrast, night time recordings were normal (AHI=1.1 events/hour). The patient underwent diurnal monitoring of transcutaneous pCO2(PtcCO2), transcutaneous O2(PtcO2), SpO2 and end tidal CO2 (PETCO2), with simultaneous monitoring of regional cerebral oxymetry (rSO2) which showed values of PtcCO2 between 8 and 15 mmHg, suggesting several episodes of marked hyperventilation. Twenty-nine episodes of severe arterial desaturation (SpO2<50%) were registered, all after the same number of apnea events, with ascent of PtcO2 up to 28 mmHg at the end of apnea. During the final phase of apnea, the patient showed cyanosis, contact disturbance, grimaces, oral movements of rhyme, and, on three occasions, partial seizures. A mask was packaged and applied daytime to the face of the patient during episodes of hyperventilation to prevent, together with a psychiatric follow up, rapid falls of PaCO2 levels determining central apnoeas.
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Hiperventilação/etiologia , Convulsões/complicações , Adolescente , Diagnóstico Diferencial , Eletrocardiografia , Eletroencefalografia , Feminino , Humanos , Hiperventilação/diagnóstico , OximetriaRESUMO
Multidisciplinary, evidence-based guidelines for quality assurance in colorectal cancer screening and diagnosis have been developed by experts in a project coordinated by the International Agency for Research on Cancer. The full guideline document covers the entire process of population-based screening. It consists of 10 chapters and over 250 recommendations, graded according to the strength of the recommendation and the supporting evidence. The 450-page guidelines and the extensive evidence base have been published by the European Commission. The chapter on communication includes 35 graded recommendations. The content of the chapter is presented here to promote international discussion and collaboration by making the principles and standards recommended in the new EU Guidelines known to a wider professional and scientific community. Following these recommendations has the potential to enhance the control of colorectal cancer through improvement in the quality and effectiveness of screening programmes and services.
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Neoplasias Colorretais/diagnóstico , Comunicação , Informação de Saúde ao Consumidor/normas , Detecção Precoce de Câncer/normas , Programas de Rastreamento/normas , Educação de Pacientes como Assunto/normas , Garantia da Qualidade dos Cuidados de Saúde , Colonoscopia/métodos , Colonoscopia/normas , Barreiras de Comunicação , Informação de Saúde ao Consumidor/métodos , Informação de Saúde ao Consumidor/organização & administração , Detecção Precoce de Câncer/métodos , União Europeia , Promoção da Saúde/métodos , Promoção da Saúde/organização & administração , Promoção da Saúde/normas , Humanos , Disseminação de Informação/métodos , Consentimento Livre e Esclarecido/normas , Programas de Rastreamento/métodos , Programas de Rastreamento/organização & administração , Sangue Oculto , Cooperação do Paciente , Educação de Pacientes como Assunto/métodos , Educação de Pacientes como Assunto/organização & administração , Relações Profissional-Paciente , Sistemas de Alerta/normasRESUMO
The prevalence and characteristics of interictal headache, epilepsy and headache/epilepsy comorbidity were assessed in 858 women and 309 men aged 18-81 years from headache and epilepsy centers in Italy. The research hypothesis was that comorbidity among patients with either disorder would be expected to be higher than in the general population. Interictal headache was diagnosed in 675 cases (migraine 482; tension-type headache 168; other types 25), epilepsy in 336 (partial 171; generalized 165) and comorbidity in 156 (1.6% from headache centers; 30.0% from epilepsy centers). Patients with epilepsy, headache and comorbidity differed in a number of demographic and clinical aspects. However, for both headache and epilepsy, a family history of the same clinical condition was equally prevalent in patients with and without comorbidity. These findings do not support the purported association between headache and epilepsy.
Assuntos
Epilepsia/epidemiologia , Transtornos da Cefaleia Primários/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Distribuição de Qui-Quadrado , Comorbidade , Estudos Transversais , Epilepsia/diagnóstico , Feminino , Transtornos da Cefaleia Primários/classificação , Transtornos da Cefaleia Primários/diagnóstico , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Obstructive pathology is a benign condition of the salivary glands that can affect elderly and co-morbid people. Sialoendoscopy is a minimally invasive surgical procedure with a success rate comparable to standard sialoadenectomy and has the advantage that it can be performed under local anaesthesia. METHODS: This study aimed to assess sialoendoscopy benefits in elderly patients unfit for general anaesthesia. A group of elderly patients (aged 65 years or more) undergoing sialoendoscopy under local anaesthesia were evaluated. Age, co-morbidities, surgical time, hospital stay, and complication and recurrence rates were assessed. RESULTS: Nineteen sialoendoscopies were performed in 18 elderly patients with a mean age of 69.7 ± 5.6 years, with some of them suffering from multiple co-morbidities. Surgery was successful in 16 patients, while surgery was unsuccessful in 2 patients because of intraglandular stones. The average surgical duration was 54.5 ± 30.1 minutes, and all patients were discharged 2-3 hours after surgery. No post-operative complications were found and only one patient had recurrence during follow up. CONCLUSION: Sialoendoscopy under local anaesthesia is a safe and effective procedure in elderly patients who are more prone to complications.
Assuntos
Endoscopia , Doenças das Glândulas Salivares/cirurgia , Glândulas Salivares/cirurgia , Idoso , Idoso de 80 Anos ou mais , Anestesia Local , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
Fourier Transform Infrared Spectroscopy has been employed to investigate the composition of the shells of two marine bivalves Mytilus galloprovincialis and Corbula gibba from four samples collected from the Mar Piccolo of Taranto (Ionian Sea, Southern Italy). Bivalve shells are composed of 95-99.9% calcium carbonate (CaCO3), while the remaining portion is constituted by organic matrix, which in some cases may incorporate pollutants from the surrounding environment. Recognizing the role of bivalves in the carbon biogeochemical cycle and their economic importance for aquaculture, we aimed to develop a methodology for shells powder samples preparation and analysis. The main objective of the study was to demonstrate the feasibility of Fourier Transform Infrared photoacoustic spectroscopy to perform a fast sample analysis in order to detect the possible presence of pollutants in the shells. The results revealed an unbiased differentiation between the shell compositions of the two bivalve selected species. Moreover, the spectra interpretation indicated that C. gibba specimens recorded a shell matrix contaminated by organic pollutants present in the surrounding environment. In conclusion, the described methodology including sample preparation tailored for photoacoustical investigations demonstrated to be a tool for the characterization of bivalve shells contamination enhancing environmental studies of polluted marine areas.â¢Bivalve species were collected from sampling stations located in the Mar Piccolo of Taranto (Ionian Sea, Southern Italy).â¢Samples preparation stages include: sonication, grinding and fractioning by sieving.â¢FT-IR PAS spectral region of interest is in the mid-infrared between 4000 and 400 cm-1.