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1.
Panminerva Med ; 65(4): 443-453, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37259492

RESUMO

BACKGROUND: The clinical impact of coronary artery disease (CAD) on the prognosis of patients undergoing MitraClip implantation is still unclear. METHODS: One thousand nine hundred fifty-three patients undergoing MitraClip implantation included in the multicenter GIOTTO Registry were stratified according to CAD. Endpoints were all-cause death, cardiac death, and re-hospitalization for heart failure at follow-up (median 15.8 months). RESULTS: Although younger, CAD patients were more symptomatic, had worse cardiovascular risk profile, higher burden of comorbidities, more frequently affected by functional MR, with higher left ventricle (LV) diameters and lower ejection fraction (EF). At follow-up, CAD patients showed higher rates of all-cause death (25.4% vs. 19.6%; P=0.002), cardiovascular death (14.0% vs. 10.1%; P=0.007) and re-hospitalization for heart failure (13.9% vs. 10.2%; P=0.011). Dividing the population according to mitral regurgitation (MR) etiology (functional vs. non-functional MR), no differences were observed between CAD and no-CAD patients. At multivariate logistic regression, NYHA III/IV class, prior heart failure hospitalization, severe chronic kidney disease, atrial fibrillation, LV end-diastolic diameter and LVEF<30% but not CAD resulted independent predictors of all-cause death. The same finding was confirmed even after propensity score adjustment. CONCLUSIONS: CAD did not show a relevant impact on mid-term prognosis per se, but seemed to identify a more complex and diseased cohort of patients with worse clinical and functional status.


Assuntos
Doença da Artéria Coronariana , Insuficiência Cardíaca , Implante de Prótese de Valva Cardíaca , Insuficiência da Valva Mitral , Humanos , Doença da Artéria Coronariana/complicações , Doença da Artéria Coronariana/cirurgia , Insuficiência Cardíaca/complicações , Implante de Prótese de Valva Cardíaca/efeitos adversos , Implante de Prótese de Valva Cardíaca/métodos , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/cirurgia , Insuficiência da Valva Mitral/etiologia , Resultado do Tratamento
2.
Future Cardiol ; 18(11): 849-855, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36128856

RESUMO

Hereditary hemorrhagic telangiectasia is regarded as a high hemorrhagic risk condition, and the management of anticoagulation and heart surgery in these patients can be challenging. The authors describe a combined percutaneous treatment of mitral regurgitation and left atrial appendage occlusion in a patient affected by hereditary hemorrhagic telangiectasia and atrial fibrillation, supporting the safety and feasibility of the procedure and the optimal short-term outcome.


Hereditary hemorrhagic telangiectasia is a disease that carries a high risk of bleeding because of the growth of blood vessels with weak walls. The authors describe the case of a patient with hereditary hemorrhagic telangiectasia needing an intervention for mitral valve regurgitation and anticoagulation therapy for atrial fibrillation. To reduce the bleeding risk, two innovative techniques were used: the mitral valve disease was treated with the percutaneous implantation of stitches without open chest surgery and the left atrial appendage was contextually occluded thanks to another mini-invasive procedure to avoid the need for anticoagulation.


Assuntos
Apêndice Atrial , Fibrilação Atrial , Procedimentos Cirúrgicos Cardíacos , Insuficiência da Valva Mitral , Acidente Vascular Cerebral , Telangiectasia Hemorrágica Hereditária , Humanos , Apêndice Atrial/diagnóstico por imagem , Apêndice Atrial/cirurgia , Telangiectasia Hemorrágica Hereditária/complicações , Fibrilação Atrial/complicações , Fibrilação Atrial/cirurgia , Insuficiência da Valva Mitral/diagnóstico , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Resultado do Tratamento
3.
J Intellect Disabil Res ; 66(5): 399-412, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35353400

RESUMO

BACKGROUND: Due to the functional, cognitive and communication impairments associated with intellectual and/or developmental disabilities (IDD), adaptations to service delivery during the COVID-19 pandemic may impact people with IDD differently than others. For community and hospital-based services, this study describes the proportion of adults with and without IDD who used health care in the year pre-COVID-19 and the first year of the pandemic. METHODS: This retrospective cohort study used linked health administrative databases to identify adults aged 18-105 years with and without IDD using unique encoded identifiers. Counts and proportions of adults who used health care services were reported for the pre-COVID-19 year (16 March 2019 to 14 March 2020) and the first COVID-19 year (15 March 2020 to 15 March 2021). RESULTS: Across services, the proportion of adults who used services was lower during the first COVID-19 year compared with the year prior, except for virtual physician visits that increased markedly for people with and without IDD. While the proportion of adults who used services was higher for those with IDD compared with those without IDD for both years, differences were greatest for mental health emergency visits and hospitalisations; adults with IDD were 6.3 to 10.9 times more likely to use these services than others with no IDD during the pandemic. CONCLUSIONS: During the first COVID-19 year in Ontario, Canada, service use decreased for all service types, except for virtual physician visits. In both years, adults with IDD remained more likely to use services than other adults, with the largest differences in use of mental health hospitalisations and mental health emergency department visits.


Assuntos
COVID-19 , Deficiência Intelectual , Adulto , COVID-19/epidemiologia , Criança , Atenção à Saúde , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/terapia , Hospitais , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/terapia , Ontário/epidemiologia , Pandemias , Estudos Retrospectivos
4.
Minerva Cardiol Angiol ; 70(5): 537-544, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33703853

RESUMO

BACKGROUND: Left atrial appendage (LAA) closure represents a novel therapeutic chance for patients with contraindications to long-term anticoagulation therapy, such as those affected by hereditary hemorrhagic telangiectasia (HHT) and atrial fibrillation (AF). Nevertheless, current experts' indications suggest the postprocedural administration of antithrombotic therapies to minimize the residual thromboembolic risk due to AF and to the need for device endothelialization. The aim of our study was to investigate the safety and effectiveness of LAA closure in preventing arterial thromboembolism in a very high-bleeding risk group, such as HHT patients, who are at risk not to tolerate even the mild postprocedural antithrombotic therapy usually recommended. METHODS: Eight HHT-affected patients with non-valvular AF, high-bleeding risk and/or known intolerance to antiplatelet and anticoagulant therapy were treated with interventional LAA occlusion with the Amplatzer™ Cardiac Plug™ and Amplatzer™ Amulet™ devices. Device implantation was successful in all patients. RESULTS: Postprocedural antiplatelet/anticoagulation therapy was attempted in seven patients: adherence to therapy exceeded 6 months only for one, while four patients suspended all antithrombotic medications within 30 days from the procedure due to an increase in bleeding frequency and/or severity and the other two discontinued treatment within 6 months; a single patient was not prescribed any antithrombotic therapy. At a medium follow-up of 22.4±14.3 months no thromboembolic episodes attributable to AF or device related thrombosis were reported. Two deaths were recorded 1231 and 783 days after the procedure which were classified as unrelated to any cerebral or cardiovascular accident. CONCLUSIONS: Our study suggests that the percutaneous LAA closure in HHT patients with AF could be safe and effective in preventing arterial systemic thromboembolism, also in the presence of reduced or absent postinterventional antithrombotic treatment. LAA occluder implantation can represent a valid and potentially life-saving alternative to lifelong anticoagulant therapy in HHT, as in other very high-bleeding risk patients.


Assuntos
Apêndice Atrial , Fibrilação Atrial , Acidente Vascular Cerebral , Telangiectasia Hemorrágica Hereditária , Tromboembolia , Anticoagulantes/efeitos adversos , Apêndice Atrial/cirurgia , Fibrilação Atrial/complicações , Fibrilação Atrial/tratamento farmacológico , Cateterismo Cardíaco/efeitos adversos , Cateterismo Cardíaco/métodos , Fibrinolíticos/efeitos adversos , Hemorragia/induzido quimicamente , Hemorragia/prevenção & controle , Humanos , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/prevenção & controle , Telangiectasia Hemorrágica Hereditária/tratamento farmacológico , Telangiectasia Hemorrágica Hereditária/terapia , Tromboembolia/tratamento farmacológico , Tromboembolia/etiologia , Tromboembolia/prevenção & controle , Resultado do Tratamento
5.
Panminerva Med ; 64(1): 9-16, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34060281

RESUMO

BACKGROUND: Dual antiplatelet therapy (DAPT) with acetylsalicylic acid and oral P2Y12 inhibitor (P2Y12-I) represents the standard of care for patients with acute coronary syndromes (ACS) or with chronic coronary syndromes (CCS) treated with percutaneous coronary intervention (PCI). Cangrelor, the first intravenous P2Y12-I, is deemed to overcome the drawbacks of the oral administration; nevertheless, real world data on this new drug are scanty. We sought to investigate routine clinical use of cangrelor in four interventional centers of Italy. METHODS: We enrolled 241 consecutive patients (196 ACS, 45 CCS) treated with cangrelor during PCI. Drug administration modalities and in-hospital clinical outcomes were evaluated. A subanalysis in patients selected based on the CHAMPION Phoenix trial inclusion/exclusion criteria (CHAMPION-like subpopulation) was also performed. RESULTS: Cangrelor was mainly utilized in ACS patients, who presented poorer clinical conditions and higher bleeding risk. Cangrelor was given only in P2Y12-I naïve patients; switch to clopidogrel was always done at the end of the infusion, while ticagrelor or prasugrel were prevalently given 30 minutes before. In-hospital mortality was 10.0% and GUSTO moderate/severe bleeding was 2.5%. Bleeding data showed nevertheless to be in line with the CHAMPION Phoenix results in the "CHAMPION-like" subpopulation. CONCLUSIONS: Cangrelor was predominantly used in ACS with modalities substantially in accord with the label indications. Poor clinical outcomes are due to the prevalent utilization in highly challenging clinical settings, nevertheless the rate of bleeding and stent thrombosis are in line with the randomized trials if analyzed in a subpopulation of comparable risk profile.


Assuntos
Síndrome Coronariana Aguda , Infarto do Miocárdio , Intervenção Coronária Percutânea , Síndrome Coronariana Aguda/tratamento farmacológico , Monofosfato de Adenosina/análogos & derivados , Humanos , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/métodos , Inibidores da Agregação Plaquetária/efeitos adversos , Antagonistas do Receptor Purinérgico P2Y/uso terapêutico , Resultado do Tratamento
6.
Minerva Med ; 113(4): 667-674, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34761885

RESUMO

BACKGROUND: Cardiac involvement significantly contributes to coronavirus disease 2019 (COVID-19) mortality.12-lead electrocardiogram (ECG) represents a fast, cheap, and easy to perform exam with the adjunctive advantage of the remote reporting possibility. In this study, we sought to investigate if electrocardiographic parameters can identify patients, deemed at low-risk at admission, who will face in-hospital unfavorable course. METHODS: From March 1, 2020, through March 30, 2021, 384 consecutive patients with confirmed low-risk COVID-19 were hospitalized at the University Hospital of Bari (Italy). Criteria for low risk were: admission to the division of Pneumology or Infectious Diseases, no need for immediate (within 24 hours from admission) transfer to Intensive Care Unit or for respiratory support with invasive mechanical ventilation (IMV) or for circulation support (either mechanical or pharmacological). Admission ECGs were reviewed and interpreted by two expert cardiologists. The primary outcomes were in-hospital death and the composite outcome of in-hospital death and IMV. RESULTS: In low-risk COVID-19 patients, atrial fibrillation (AF), poor R wave progression (PRWP), tachycardia, and right bundle branch block (RBBB) resulted as statistically significant and independent predictors of in-hospital all-cause mortality; AF, PRWP, Tachycardia, RBBB, and corrected QT interval showed to be statistically significant and independent risk factors for the occurrence of the composite endpoint of death and IMV. CONCLUSIONS: Our study demonstrated for the first time that RBBB and PRWP, assessed upon admission with ECG, are associated with unfavorable clinical course in a baseline low-risk population hospitalized for COVID-19.


Assuntos
COVID-19 , Bloqueio de Ramo/epidemiologia , COVID-19/diagnóstico , Eletrocardiografia , Mortalidade Hospitalar , Humanos , Prognóstico , Taquicardia
7.
J Neurol Sci ; 427: 117506, 2021 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-34087568

RESUMO

Epilepsy surgery is recommended in selected patients with Tuberous Sclerosis Complex (TSC). However, reports on predictive factors of seizure outcome are variable. Here we report on seizure and cognitive outcome of 35 TSC patients who received surgery for refractory epilepsy in 7 Italian centers over a period of 22 years (1997-2019). The rate of seizure-free individuals at last follow-up (mean 7.5 years, range 1-21 years) was 51%. Patients with longer follow-up (≥10 years) had a lower rate of Engel I outcome (11.1%) than those who received surgery in the last 10 years (65.4%, p = 0.003). Factors associated with Engel II, III, IV outcome in our cohort included: high number of cortical tubers (≥5); presence of subependymal nodules (SENs); seizure onset before age 1 year; and multifocal interictal epileptic discharges (IEDs) on electroencephalogram (EEG). A subset of patients evaluated with Vineland Adaptive Behaviour Scales (VABS) showed developmental gains, in line with their developmental trajectories, but no improvement in standard scores after surgery was noted. Our study demonstrates that the rates of successful seizure outcome of epilepsy surgery in TSC have improved in the last 10 years. More than half of the patients achieved seizure freedom, and a high proportion of affected individuals experienced a reduction in seizure burden and in antiseizure medications. A comprehensive assessment after surgery should be performed in TSC patients to evaluate the overall neurodevelopmental outcome, as measures that are based only on seizure control do not adequately identify the benefits of surgery on global functioning in these patients.


Assuntos
Epilepsia , Esclerose Tuberosa , Eletroencefalografia , Epilepsia/etiologia , Epilepsia/cirurgia , Humanos , Lactente , Estudos Retrospectivos , Convulsões/epidemiologia , Convulsões/etiologia , Convulsões/cirurgia , Resultado do Tratamento , Esclerose Tuberosa/complicações , Esclerose Tuberosa/cirurgia
8.
Bull Environ Contam Toxicol ; 106(3): 421-427, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32556689

RESUMO

In this study Cr(tot), Cr(VI), major and trace elements were determined in groundwater of northern sector of the Pollino Massif (southern Italy). The investigated area is characterized by ophiolitic rocks consisting of metabasites, shales and calcschists and fractured serpentinites. Two main hydro-facies were observed, reflecting low temperature water-rock interaction. The Mg-HCO3 hydrofacies is due to the weathering of serpentinites, Ca-HCO3 groundwaters are linked to the interaction with calcschist and metabasites. High Cr(VI) concentrations were detected, exceeding the maximum admissible concentrations by Italian regulation, due to the release of Cr(III) from ophiolitic rocks into water and its oxidation to the hexavalent state. Remediation tests were carried out using two synthetized nanomaterials, Fe(0) and magnetite, characterized by a mean size lower than 50 nm. The experiments were conducted at fixed nanoparticles/Cr(VI) molar ratio and according to previous studies. In addition, the kinetic data were interpreted with a suitable mathematical model.


Assuntos
Água Subterrânea , Poluentes Químicos da Água , Cromo/análise , Itália , Poluentes Químicos da Água/análise
9.
Eur Arch Paediatr Dent ; 22(3): 387-392, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32860201

RESUMO

PURPOSE: To assess the efficacy of silver diamine fluoride (SDF) and sodium fluoride (NaF) in inhibiting enamel erosion in primary teeth. METHODS: 80 primary canine teeth were immersed for 24 h in 2% NaF, 10% SDF, or distilled water. Afterward, some of them underwent a 10-min acid challenge using either 1% or 10% citric acid while others did not. Specimens selected for negative controls were immersed in distilled water but not exposed to the acids, whereas those selected for positive controls were not only immersed in distilled water, but also exposed to the acids. Following, 3-mL samples were collected for calcium and phosphorus analysis by an atomic emission spectrometer. RESULTS: 1% acid caused higher phosphorus loss in the positive control group than in the others (no differences between them). Regarding 10% acid, the SDF group showed lower phosphorus loss compared to the positive control and NaF groups. From calcium loss analysis, SDF and NaF groups presented no significant difference when compared to the positive control groups after both acidic challenges. CONCLUSION: Considering phosphorus loss values, 10% SDF seems to be effective in inhibiting enamel erosion after 1% and 10% citric acid challenges, whereas 2% NaF only after 1% citric acid challenge. Regarding calcium loss values, both fluoride agents seem to have no impact on inhibiting enamel erosion after 1% and 10% citric acid challenges.


Assuntos
Fluoreto de Sódio , Erosão Dentária , Esmalte Dentário , Fluoretos , Fluoretos Tópicos , Humanos , Compostos de Amônio Quaternário , Compostos de Prata , Erosão Dentária/induzido quimicamente , Erosão Dentária/prevenção & controle , Dente Decíduo
10.
Med Oral Patol Oral Cir Bucal ; 25(6): e799-e804, 2020 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-32701929

RESUMO

BACKGROUND: One of the most important complications of radiotherapy (RT) for head and neck cancer (HNC) is osteoradionecrosis (ORN) of the jaws, arising mainly from tooth extractions. Thus, the present study aimed to evaluate the efficacy of leukocyte- and platelet-rich fibrin (L-PRF) in preventing ORN following tooth extraction in post-irradiated HNC patients, as well as other postoperative complications. MATERIAL AND METHODS: 23 patients previously submitted to conventionally fractionated 3D-conformational RT for HNC underwent atraumatic tooth extractions with perioperative antibiotic therapy. Besides, they were randomly assigned to receive L-PRF clots to fill and cover the extraction sockets (n=11, Test Group) or not (n=12, Control Group). A visual analog scale was used to quantify postoperative pain on the 3rd and 7th days. For ORN diagnosis, patients were clinically assessed for up to 180 days. Other postoperative complications (edema, alveolitis, suture dehiscence, continuous bleeding, and oroantral communication) were also evaluated within this period. RESULTS: No case of ORN or another surgical complication was observed and there were no differences in the postoperative pain scores between the groups on the 3rd and 7th days. CONCLUSIONS: L-PRF did not seem to provide any additional benefits than those achieved by the combination of the surgical and drug protocols used for tooth extractions in the post-irradiated HNC patients.


Assuntos
Neoplasias de Cabeça e Pescoço , Osteorradionecrose , Fibrina Rica em Plaquetas , Neoplasias de Cabeça e Pescoço/radioterapia , Humanos , Leucócitos , Extração Dentária
11.
Int J Oral Maxillofac Surg ; 49(11): 1459-1463, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32278624

RESUMO

Temporomandibular joint (TMJ) arthrocentesis is considered an effective and minimally invasive procedure for certain conditions related to temporomandibular disorders. The ideal irrigation volume for arthrocentesis lavage has not yet been defined. Therefore, the aim of this study was to evaluate the efficacy of different saline solution volumes in removing methylene blue from the TMJ space of fresh human cadavers. Nineteen cadavers were selected and 1ml of 10µM methylene blue solution was injected into the upper joint space unilaterally. Conventional arthrocentesis was then conducted by infusion of 300ml of 0.9% saline solution, collecting a 1-ml sample from the drained quantity for every 25ml injected. Finally, the samples were assayed by measuring photo absorbance of the methylene blue solution. There was a statistically significant difference between the irrigation volumes regarding the removal of methylene blue solution from the joint space (P<0.001), specifically between the first 25 ml and 200 ml (P=0.014), 225 ml (P=0.001), 250 ml (P<0.001), and 275 ml (P=0.001). Based on this ex vivo study, a 25-ml perfusion volume appears to be sufficient for joint lavage in conventional arthrocentesis of the TMJ.


Assuntos
Artrocentese , Transtornos da Articulação Temporomandibular , Cadáver , Humanos , Amplitude de Movimento Articular , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/cirurgia , Irrigação Terapêutica , Resultado do Tratamento
12.
Morphologie ; 104(344): 59-63, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31587840

RESUMO

PURPOSE: To investigate the relationship between the mandibular foramen (MF) and the inferior occlusal plane (IOP) of anatomic specimens, in order to guide clinicians in the inferior alveolar nerve block (IANB). METHOD: Eighty-two dry mandibles (totally or partially toothed) of Brazilian adults were selected, totalizing 66 left and 66 right antimeres. A flat plate of rigid PVC plastic was placed on the occlusal surfaces of posterior teeth and pressure was then manually applied to simulate the IOP. Following, the perpendicular distance from the IOP to the lowest point of the MF was measured by the use of a digital caliper, adopting negative values inferiorly and positive values superiorly. RESULTS: Regarding the antimeres, the majority of the lowest limits of the MF was below the IOP (right: 86.4%, left: 81.8%) with a mean of -4.2mm (±4.8) in the right and -4.1mm (±4.8) in the left ones, without any statistical significance. Considering both sexes, no statistically significant difference was obtained between them. CONCLUSION: The IOP seems not to be a good anatomical landmark to localize the MF and, its turn, to guide clinicians during the IANB for Brazilian adults, given the marked topographic variations.


Assuntos
Pontos de Referência Anatômicos , Mandíbula/inervação , Nervo Mandibular/anatomia & histologia , Bloqueio Nervoso/métodos , Adulto , Anestésicos Locais/administração & dosagem , Brasil , Feminino , Humanos , Injeções/métodos , Masculino , Nervo Mandibular/efeitos dos fármacos , Pessoa de Meia-Idade , Adulto Jovem
13.
Mar Biol ; 165(10): 156, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30294007

RESUMO

Herbivory is a significant driver of algal community dynamics on coral reefs. However, abiotic factors such as the complexity and orientation of the benthos often mediate the impact of herbivores on benthic communities. We experimentally evaluated the independent and interactive effects of substrate orientation and herbivorous fishes on algal community dynamics on a coral reef in the Florida Keys, USA. We created horizontal and vertical substrates, mimicking the trend in the reduction of vertical surfaces of coral reefs, to assess how algal communities developed either with herbivory (open areas) or without herbivory (herbivore exclosures). We found that substrate orientation was the dominant influence on macroalgal community composition. Herbivores had little impact on community development of vertical substrates as crustose algae dominated these substrates regardless of being in exclosures or open areas. In contrast, herbivores strongly impacted communities on horizontal substrates, with upright macroalgae (e.g., Dictyota spp., articulated coralline algae) dominating herbivore exclosures, while filamentous turf algae and sediment dominated open areas. Outside of exclosures, differences between vertical and horizontal substrates exposed to herbivores persisted despite similar intensity of herbivory. Our results suggest that the orientation of the reef benthos has an important impact on benthic communities. On vertical surfaces, abiotic factors may be more important for structuring algal communities while herbivory may be more important for controlling algal dynamics in flatter areas. Thus, the decline in structural complexity of Caribbean coral reefs and the flattening of reef substrates may fundamentally alter the impact that herbivores have on benthic community dynamics.

16.
Epilepsy Res ; 127: 93-100, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27568598

RESUMO

PURPOSE: To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions. PATIENTS AND METHODS: This Italian multicenter retrospective observational study was performed in 16 paediatric epilepsy centres. Inclusion criteria were: (i) ≤18 years of age, (ii) history of refractory epilepsy, (iii) a follow-up ≥5 months of PER add-on therapy. Exclusion criteria were: (i) a diagnosis of primary idiopathic generalized epilepsy, (ii) variation of concomitant AEDs during the previous 4 weeks. Response was defined as a ≥50% reduction in monthly seizure frequency compared with the baseline. RESULTS: 62 patients suffering from various refractory epilepsies were included in this study: 53% were males, the mean age was 14.2 years (range 6-18 years), 8 patients aged <12 years. Mean age at epilepsy onset was 3.4 years and the mean duration of epilepsy was 10.8 years (range 1-16), which ranged from 2 seizures per-month up to several seizures per-day (mean number=96.5). Symptomatic focal epilepsy was reported in 62.9% of cases. Mean number of AEDs used in the past was 7.1; mean number of concomitant AEDs was 2.48, with carbamazepine used in 43.5% of patients. Mean PER daily dose was 7.1mg (2-12mg). After an average of 6.6 months of follow-up (5-13 months), the retention rate was 77.4% (48/62). The response rate was 50%; 16% of patients achieved ≥75% seizure frequency reduction and 5% became completely seizure free. Seizure aggravation was observed in 9.7% of patients. Adverse events were reported in 19 patients (30.6%) and led to PER discontinuation in 4 patients (6.5%). The most common adverse events were behaviour disturbance (irritability and aggressiveness), dizziness, sedation and fatigue. CONCLUSION: PER was found to be a safe and effective treatment when used as adjunctive therapy in paediatric patients with uncontrolled epilepsy.


Assuntos
Anticonvulsivantes/uso terapêutico , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Piridonas/uso terapêutico , Adolescente , Anticonvulsivantes/efeitos adversos , Criança , Feminino , Seguimentos , Humanos , Itália , Masculino , Nitrilas , Piridonas/efeitos adversos , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Resultado do Tratamento
17.
Curr Oncol ; 22(5): 317-25, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26628864

RESUMO

BACKGROUND: Sarcomas in adults can be associated with hereditary cancer syndromes characterized by early-onset predisposition to numerous types of cancer. Because of variability in familial presentation and the largely unexplained genetic basis of sarcomas, ascertainment of patients for whom a genetics evaluation is most indicated poses challenges. We assessed the utility of a Sarcoma Clinic Genetic Screening (scgs) questionnaire in facilitating that task. METHODS: Between 2008 and 2012, 169 patients (median age: 53 years; range: 17-88 years) completed a self-administered scgs questionnaire. A retrospective chart review was completed for all respondents, and descriptive statistics were reported. Probands were divided into two groups depending on whether they did or did not report a family history of Li-Fraumeni syndrome-type cancers. RESULTS: A family history of cancer (as far as 3rd-degree relatives) was reported in 113 of 163 sarcoma patients (69%). Eeles Li-Fraumeni-like (lfl) criteria were fulfilled in 46 probands (28%), Chompret lfl in 21 (13%), Birch lfl in 8 (5%), and classic Li-Fraumeni in none. In the 10 probands tested for TP53 mutations, 1 pathogenic mutation was found. Further investigation of selected families led to the discovery of germline mutations in MLH1, MSH2, and APC genes in 3 individuals. CONCLUSIONS: The scgs questionnaire was useful for ascertaining probands with sarcoma who could benefit from a genetic assessment. The tool allowed us to identify high-risk families fitting the criteria for lfl and, surprisingly, other hereditary cancer syndromes. Similar questionnaires could be used in other cancer-specific clinics to increase awareness of the genetic component of these cancers.

18.
Transplant Proc ; 47(4): 950-3, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-26036492

RESUMO

BACKGROUND: The Collaborative Brazilian Pediatric Renal Transplant Registry started in 2004 as a multicenter initiative aiming to analyze, report, and share the results of pediatric kidney transplantation in Brazil. Data from all pediatric kidney transplants performed between January 2004 and December 2013 were recorded electronically and periodically updated. All patients under 18 years old from the participating centers were enrolled. Demographic data, etiology of chronic kidney disease, and patient and graft survival were analyzed. From a total of 2443 pediatric kidney transplants performed in Brazil during the study period, we report data from 1751 pediatric renal transplants performed in 13 centers enrolled in the collaborative study. Median age at transplantation was 12.4 years, and most of recipients were male (56%). The most common underlying renal etiologies were obstructive uropathy (31%) and glomerulopathy (26%). METHODS: According to donor source, 1155 (66%) of transplants were performed with deceased donors (DD). Initial immunosuppression consisted mainly of tacrolimus, mycophenolate, steroids, and induction therapy with anti-IL-2R antibodies. RESULTS: One-year graft survival (death-censored) was 93% and 90% (log rank test, P < .01), respectively, for living donor (LD) and DD. Graft losses (15%) were most frequently caused by vascular thrombosis, chronic allograft nephropathy, death with functioning kidney, acute rejection, and recurrent renal disease. Recipients of DD had 2.02 (95% confidence interval: 1.14-3.59) times the hazard of graft loss compared with those of LD (P = .015). Patient survival rates at 1 and 5 years were 98% and 97% for LD and 97% and 93% for DD, respectively. The mortality rate was 3.8%, mainly as the result of infection and cardiovascular disease. CONCLUSIONS: The results of this collaborative pediatric transplant study are comparable to international registries. Our effort has been able to maintain an exchange of information, both among the participating centers and with other international registries.


Assuntos
Sobrevivência de Enxerto , Falência Renal Crônica/cirurgia , Transplante de Rim , Sistema de Registros , Adolescente , Corticosteroides/uso terapêutico , Brasil , Criança , Pré-Escolar , Comportamento Cooperativo , Feminino , Rejeição de Enxerto/prevenção & controle , Humanos , Imunossupressores/uso terapêutico , Lactente , Doadores Vivos , Masculino , Ácido Micofenólico/análogos & derivados , Ácido Micofenólico/uso terapêutico , Modelos de Riscos Proporcionais , Recidiva , Insuficiência Renal Crônica , Taxa de Sobrevida , Tacrolimo/uso terapêutico , Doadores de Tecidos
19.
J Hazard Mater ; 281: 70-76, 2015 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-25139286

RESUMO

Iron sulphate (FeSO4) and colloidal nano zero-valent iron (nZVI) as reducing agents were compared, with the aim of assessing their effectiveness in hexavalent chromium [Cr(VI)] removal from a contaminated industrial soil. Experiments were performed on soil samples collected from an industrial site where a nickel contamination, caused by a long-term productive activity, was also verified. The influence of reducing agents amount with respect to chromium content and the effectiveness of deoxygenation of the slurry were discussed. The soil was fully characterized before and after each test, and sequential extractions were performed to assess chemico-physical modifications and evaluate metals mobility induced by washing. Results show that both the reducing agents successfully lowered the amount of Cr(VI) in the soil below the threshold allowed by Italian Environmental Regulation for industrial reuse. Cr(VI) reduction by colloidal nZVI proved to be faster and more effective: the civil reuse of soil [Cr(VI)<2mg/kg] was only achieved using colloidal nZVI within 60min adopting a nZVI/Cr(VI) molar ratio of 30. The reducing treatment resulted in an increase in the amount of chromium in the oxide-hydroxide fraction, thus confirming a mechanism of chromium-iron hydroxides precipitation. In addition, a decrease of nickel (Ni) and lead (Pb) content in soil was also observed when acidic conditions were established.


Assuntos
Cromo/química , Compostos Ferrosos/química , Ferro/química , Nanopartículas Metálicas/química , Poluentes do Solo/química , Hidróxidos/química , Oxirredução , Óxidos/química
20.
Clin Genet ; 87(6): 536-42, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25318681

RESUMO

We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We aimed to investigate the molecular and clinical implications of this mutation among FC carriers and to assess its putative founder origin. We studied 11 probands and 27 family members. Additionally 6433 newborns, 187 colorectal cancer (CRC) cases, 381 endometrial cancer (EC) cases and 179 additional controls, all of them from Quebec, were used. Found in approximately 1 of 400 newborns, the mutation is one of the most common LS mutations described. We have found that this mutation confers a greater risk for EC than for CRC, both in the 11 studied families and in the unselected cases: EC [odds ratio (OR) = 7.5, p < 0.0001] and CRC (OR = 2.2, p = 0.46). Haplotype analyses showed that the mutation arose in a common ancestor, probably around 430-656 years ago, coinciding with the arrival of the first French settlers. Application of the results of this study could significantly improve the molecular testing and clinical management of LS families in Quebec.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Etnicidade/genética , Efeito Fundador , Mutação , Adolescente , Adulto , Idoso , Canadá/epidemiologia , Criança , Pré-Escolar , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias do Endométrio/epidemiologia , Neoplasias do Endométrio/genética , Família , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Haplótipos , Heterozigoto , Humanos , Perda de Heterozigosidade , Masculino , Pessoa de Meia-Idade , Quebeque , Risco , Adulto Jovem
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