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1.
Epilepsy Behav ; 140: 109117, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36804846

RESUMO

BACKGROUND: Psychogenic Non-Epileptic Seizures (PNES) and Functional Motor Disorders (FMDs) commonly represent the main clinical manifestations of Functional Neurological Disorders (FNDs). Despite their high prevalence in pediatric neurological services, literature on this topic is still spare for this population. The present study aimed to deepen the clinical knowledge of a pediatric FNDs sample through a demographic and clinical characterization of the most recurrent clinical patterns during the pediatric age. Moreover, a comparison of neuropsychological and psychopathological profiles of PNES and FMD patients was carried out to identify specific vulnerabilities and therapeutic targets linked with these different clinical manifestations. MATERIALS AND METHODS: A total of 43 FNDs patients (age range 7-17 years old) were retrospectively included in our study, enrolled in two subgroups: 20 with FMDs and 23 with PNES diagnosis. They were inpatients and outpatients referred over a period of 5 years and a standardized neurological, neuropsychological (WISC-IV/WAIS-IV), and psychiatric (CDI-2, MASC-2, ADES, DIS-Q, PID-5) evaluation was assessed. RESULTS: In PNES patients the most common clinical phenotypes were functional tonic-clonic (52%) and atonic (32%) manifestations while in the FMDs group were gait alterations (60%), functional myoclonus (35%), and tremor (35%). A higher frequency of cognitive impairment was reported in PNES patients with higher anxiety-depressive symptom rates than FMDs patients. CONCLUSIONS: Notably, specific neurocognitive and psychopathological profiles were described in PNES and FMDs, highlighting higher cognitive and psychiatric vulnerabilities in PNES, suggesting as well different strategy for therapeutic approaches.


Assuntos
Transtorno Conversivo , Transtornos Motores , Humanos , Transtornos Motores/diagnóstico , Estudos Retrospectivos , Convulsões/complicações , Convulsões/diagnóstico , Transtorno Conversivo/complicações , Transtorno Conversivo/diagnóstico , Ansiedade/psicologia , Eletroencefalografia
2.
Int J Colorectal Dis ; 37(10): 2219-2228, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36163514

RESUMO

BACKGROUND AND AIMS: Colonoscopy aims to early detect and remove precancerous colorectal polyps, thereby preventing development of colorectal cancer (CRC). Recently, computer-aided detection (CADe) systems have been developed to assist endoscopists in polyp detection during colonoscopy. The aim of this study was to investigate feasibility and safety of a novel CADe system during real-time colonoscopy in three European tertiary referral centers. METHODS: Ninety patients undergoing colonoscopy assisted by a real-time CADe system (DISCOVERY; Pentax Medical, Tokyo, Japan) were prospectively included. The CADe system was turned on only at withdrawal, and its output was displayed on secondary monitor. To study feasibility, inspection time, polyp detection rate (PDR), adenoma detection rate (ADR), sessile serrated lesion (SSL) detection rate (SDR), and the number of false positives were recorded. To study safety, (severe) adverse events ((S)AEs) were collected. Additionally, user friendliness was rated from 1 (worst) to 10 (best) by endoscopists. RESULTS: Mean inspection time was 10.8 ± 4.3 min, while PDR was 55.6%, ADR 28.9%, and SDR 11.1%. The CADe system users estimated that < 20 false positives occurred in 81 colonoscopy procedures (90%). No (S)AEs related to the CADe system were observed during the 30-day follow-up period. User friendliness was rated as good, with a median score of 8/10. CONCLUSION: Colonoscopy with this novel CADe system in a real-time setting was feasible and safe. Although PDR and SDR were high compared to previous studies with other CADe systems, future randomized controlled trials are needed to confirm these detection rates. The high SDR is of particular interest since interval CRC has been suggested to develop frequently through the serrated neoplasia pathway. CLINICAL TRIAL REGISTRATION: The study was registered in the Dutch Trial Register (reference number: NL8788).


Assuntos
Adenoma , Pólipos do Colo , Neoplasias Colorretais , Juniperus , Adenoma/diagnóstico , Pólipos do Colo/diagnóstico por imagem , Pólipos do Colo/patologia , Colonoscopia/métodos , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/patologia , Computadores , Estudos de Viabilidade , Humanos
3.
J Endocrinol Invest ; 44(5): 1053-1063, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32865776

RESUMO

PURPOSE: We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient's general and sexual life satisfaction. METHODS: The Quality of Life Enjoyment and Satisfaction Questionnaire and the Temperament and Character Inventory-Revised were administered to both 23 KS patients and matched healthy subjects. Psychopathology was investigated by the Symptom Checklist-90-Revised (SCL-90-R) and the Mini-mental State Examination. The COPE Inventory was used to identify cognitive and behavioral strategies to manage disease-related distress. RESULTS: In testosterone-treated KS patients, when compared with controls, SCL-90-R subscales analysis evidenced high psychological distress, mainly presented as obsessive thoughts, hanger-hostility, phobias, and psychoticism. Self-directedness and self-transcendence, along with the prevalent use of emotion-focused coping strategies, outlined the personality of our KS patients. Depression and somatization proved to be predictors of general life dissatisfaction. Depression, anger-hostility, and paranoid ideation, instead, emerged as predictors of sexual life dissatisfaction. CONCLUSION: Endocrinologists should cooperate with mental health providers to foster a better outcome of the disease in KS patients.


Assuntos
Adaptação Psicológica/fisiologia , Cognição , Terapia de Reposição Hormonal , Síndrome de Klinefelter , Qualidade de Vida , Testosterona/uso terapêutico , Adulto , Terapia de Reposição Hormonal/métodos , Terapia de Reposição Hormonal/psicologia , Humanos , Itália/epidemiologia , Síndrome de Klinefelter/epidemiologia , Síndrome de Klinefelter/psicologia , Síndrome de Klinefelter/terapia , Masculino , Saúde Mental , Testes de Estado Mental e Demência , Determinação da Personalidade , Angústia Psicológica , Comportamento Sexual
4.
J Endocrinol Invest ; 44(1): 165-171, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32385852

RESUMO

BACKGROUND: The familial nonmedullary thyroid cancer (FNMTC) is suspected to be a Mendelian condition in up to 3-8% of thyroid cancers. The susceptibility chromosomal loci and genes of 95% of FNMTC cases remain to be characterized. The inheritance of FNMTC appears to be autosomal dominant with incomplete penetrance and variable expressivity. The finding of the causative gene of FNMTC and the identification of patients at risk that need genetic testing were our aim. METHODS: We analyzed by whole-exome sequencing patients and non-affected relatives of five families with at least two family members affected by papillary thyroid cancer, selecting for new or extremely rare variants with predicted pathogenic value. RESULTS: A family showed, in all three affected members, a new loss-of-function variant (frameshift deletion) in BROX gene at 1q41 that was absent from all internal and external databases. In a second family with three affected relatives, we found an additional new BROX variant. The smaller families presented no variants in BROX or in the other causative genes studied. CONCLUSIONS: BROX could be a new causative gene for FNMTC. Variants in BROX may result in the haploinsufficiency of a key gene involved in the morphogenesis of MVBs, in the endosomal sorting of cargo proteins, and in EGFR. Functional studies are needed to support this result. The thorough genomic analysis by NGS in all families with three or more affected members should become a routine approach to obtain a comprehensive genetic view and find confirmative second cases.


Assuntos
Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Haploinsuficiência , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Câncer Papilífero da Tireoide/etiologia , Câncer Papilífero da Tireoide/metabolismo , Neoplasias da Glândula Tireoide/etiologia , Neoplasias da Glândula Tireoide/metabolismo
5.
Ann Hematol ; 99(12): 2903-2909, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32583088

RESUMO

From April 2016, carfilzomib, in combination with lenalidomide and dexamethasone (KRD), became available for use in the daily practice in Italy for patients with relapsed or refractory multiple myeloma (RRMM). We performed a retrospective survey at 14 different institutions from Southern Italy in order to evaluate patient characteristics and treatment results from an unselected series of patients treated accordingly so far. One hundred and twenty-three consecutive patients were included, with a median of 2 previous lines of therapy (range 1-9) and a median age of 63 years (range 39-82). At the time of analysis, median number of courses administered is 11 (range 1-34), and all patients are evaluable for response. Overall response rate including complete remission, very good partial remission, and partial remission is 85%. After a median follow-up of 27 months, median overall and progression-free survival are 33 and 23 months, respectively. Sixty-three patients are alive and between them, 45 (37%) are in continuous remission. Sixty patients have died (49%), mainly from progressive disease. There were 6 treatment-related deaths (5% of the whole patient population). Overall, hematological and non-hematological toxicity were manageable, mostly on outpatient basis. Arterial hypertension has been observed in 43 cases (35%) but did not lead to treatment interruption. Our data demonstrate that in real life, KRD is highly effective and well tolerated in the majority of patients with RRMM.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Dexametasona/administração & dosagem , Lenalidomida/administração & dosagem , Mieloma Múltiplo/tratamento farmacológico , Oligopeptídeos/administração & dosagem , Inquéritos e Questionários , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos Hormonais/administração & dosagem , Feminino , Humanos , Fatores Imunológicos/administração & dosagem , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/epidemiologia , Intervalo Livre de Progressão , Estudos Retrospectivos , Resultado do Tratamento
6.
J Endocrinol Invest ; 42(10): 1199-1204, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30912057

RESUMO

PURPOSE: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. METHODS: This is a case-control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student's t test. Mann-Whitney test and Chi-square test. RESULTS: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto's thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. CONCLUSIONS: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype.


Assuntos
Síndrome de Klinefelter/fisiopatologia , Glândula Tireoide/fisiologia , Centros Médicos Acadêmicos , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Doença de Hashimoto/sangue , Doença de Hashimoto/fisiopatologia , Humanos , Hipogonadismo/sangue , Hipogonadismo/fisiopatologia , Itália , Síndrome de Klinefelter/sangue , Masculino , Pessoa de Meia-Idade , Doenças da Glândula Tireoide/sangue , Doenças da Glândula Tireoide/fisiopatologia , Testes de Função Tireóidea , Hormônios Tireóideos/sangue , Tireotropina/sangue , Adulto Jovem
7.
Acta Neurol Scand ; 137(2): 204-211, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29082509

RESUMO

OBJECTIVES: Preclinical diagnosis of Parkinson's disease (PD) is nowadays a topic of interest as the neuropathological process could begin years before the appearance of motor symptoms. Several symptoms, among them hyposmia, could precede motor features in PD. In the preclinical phase of PD, a subclinical reduction in motor skills is highly likely. In this pilot study, we investigate a step-by-step method to achieve preclinical PD diagnosis. MATERIAL AND METHODS: We used the IOIT (Italian Olfactory Identification Test) to screen a population of healthy subjects. We identified 20 subjects with idiopathic hyposmia. Hyposmic subjects underwent an evaluation of motor skills, at baseline and after 1 year, using motion analysis sensors previously created by us. RESULTS: One subject showed significant worsening in motor measurements. In this subject, we further conducted a dopaminergic challenge test monitored with the same sensors and, finally, he underwent [123 I]-FP/CIT (DaTscan) SPECT brain imaging. The results show that he is probably affected by preclinical PD. CONCLUSIONS: Our pilot study suggests that the combined use of an olfactory test and motor sensors for motion analysis could be useful for a screening of healthy subjects to identify those at a high risk of developing PD.


Assuntos
Diagnóstico Precoce , Destreza Motora , Transtornos do Olfato/etiologia , Doença de Parkinson/diagnóstico , Dispositivos Eletrônicos Vestíveis , Idoso , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Projetos Piloto
8.
J Endocrinol Invest ; 40(1): 83-89, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27572248

RESUMO

BACKGROUND: The real efficacy of selenium supplementation in Hashimoto's thyroiditis (HT) is still an unresolved issue. OBJECTIVES: We studied the short-term effect of L-selenomethionine on the thyroid function in euthyroid patients with HT. Our primary outcome measures were TSH, thyroid hormones, thyroid peroxidase antibody (TPOAb), thyroglobulin antibody (TGAb) levels and thyroid echogenicity after 6 months of L-selenomethionine treatment. The secondary outcome measure was serum CXCL10 levels. METHODS: In a placebo-controlled randomized prospective study, we have enrolled untreated euthyroid patients with HT. Seventy-six patients were randomly assigned to receive L-selenomethionine 166 µg/die (SE n = 38) or placebo (controls n = 38) for 6 months. TSH, free T4 (FT4), free T3 (FT3), TPOAb and CXCL10 serum levels were assayed at time 0, after 3 and 6 months. An ultrasound examination of the left and right thyroid lobe in transverse and longitudinal sections was performed. A rectangular region, the region of interest, was selected for analysis. RESULTS: TSH, FT4, FT3, TPOAb, thyroid echogenicity and CXCL10 were not statistically different between SE and control groups at time 0, after 3 and 6 months. In the SE group, FT4 levels were significantly decreased (P < 0.03) after 3 months, while FT3 increased (P < 0.04) after 3 and 6 months versus baseline values. In the control group, the FT3 decreased after 3 and 6 months (P < 0.02) compared to baseline. CONCLUSION: The short-term L-selenomethionine supplementation has a limited impact on the natural course in euthyroid HT. Our results tip the balance toward the ineffectiveness of short-term L-selenomethionine supplementation in HT.


Assuntos
Biomarcadores/sangue , Doença de Hashimoto/tratamento farmacológico , Selênio/administração & dosagem , Adolescente , Adulto , Suplementos Nutricionais , Feminino , Humanos , Imunoensaio , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Selênio/sangue , Hormônios Tireóideos/sangue , Adulto Jovem
10.
Colorectal Dis ; 18(2): O66-73, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26589643

RESUMO

AIM: Tumour neoangiogenesis is a key factor in tumour progression and metastatic spread and the possibility to assess tumour angiogenesis might provide prognostic information. The aim of this study was to establish the role of probe-based confocal laser endomicroscopy (p-CLE) in the identification of vascular architecture and specific morphological patterns in normal colorectal mucosa and malignant lesions during routine endoscopy. METHOD: Fourteen consecutive patients with colorectal cancer were included. The following features were identified and then compared between normal and neoplastic mucosa on p-CLE images: vessel shape (straight vs irregular) vessel diameter the 'branching patterns' vessel permeability (fluorescein leakage) and blood flow (normal vs defective flux). Immunohistochemistry was used to confirm the presence and to study the morphology of vascular structures (CD-34 staining) and 'neo-vessels' (WT-1 staining) on tumour and normal mucosal sections. RESULTS: Tumour vessels appeared as irregular, ectatic and with a highly variable calibre and branching patterns on p-CLE images. The mean diameter of tumour vessels was significantly larger than those in normal mucosa (weighted mean difference 3.38, 95% CI 2.65-4.11, P = 0.01). Similarly, 'vessel branching' (OR 2.74, 95% CI 1.23-6.14, P = 0.01), fluorescent dye 'extravasation' (OR 3.46, 95% CI 1.39-8.57, P = 0.01) were significantly more frequent in colorectal cancer than in normal colorectal mucosa. Immunohistochemistry corroborated the p-CLE findings, showing higher vascularity in tumour sections due to neoformed vessels, presenting irregular patterns. CONCLUSION: Probe-based confocal laser endomicroscopy provides a noninvasive characterization of the microvascular architecture of colonic mucosa. Different morphological patterns have been described, discriminating normal and malignant microvascular networks in colorectal mucosa.


Assuntos
Neoplasias Colorretais/irrigação sanguínea , Endoscopia Gastrointestinal/métodos , Microscopia Confocal/métodos , Microvasos/patologia , Neovascularização Patológica/patologia , Adulto , Colo/irrigação sanguínea , Colo/patologia , Feminino , Humanos , Imuno-Histoquímica , Mucosa Intestinal/irrigação sanguínea , Mucosa Intestinal/patologia , Masculino , Pessoa de Meia-Idade
11.
Int J Cosmet Sci ; 37(2): 212-21, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25496720

RESUMO

OBJECTIVE: Quinoa (Chenopodium quinoa Willd.) is a seed crop rich in bioactive compounds including phytoecdysones (especially 20-hydroxyecdysone, 20HE), polyphenols, proteins and essential fatty acids. We previously reported a method to leach and concentrate quinoa bioactives into a complex phytochemical mixture termed quinoa leachate (QL). Here, we aimed to determine the effect of QL and its chemically distinct fractions on five biochemical endpoints relevant to skin care applications: (i) cell viability, (ii) matrix metalloproteinase (MMP) mRNA expression, (iii) MMP enzymatic activity, (iv) tyrosinase enzymatic activity and (v) intracellular reactive oxygen species (ROS) production. METHODS: Quinoa leachate was fractionated and chemically characterized using column chromatography and liquid chromatography-mass spectrometry (LC-MS). Cell viability was determined using a MTT assay in four mammalian cell lines. MMP-1 mRNA expression was assessed in human dermal fibroblasts (HDF) via qRT-PCR. The enzymatic activity of MMP-9 and tyrosinase was measured using fluorometric and colorimetric in vitro assays, respectively. Lipopolysaccharide (LPS)-induced ROS production was determined in human dermal fibroblasts by fluorescence intensity of an oxidant-sensitive probe. RESULTS: Quinoa leachate was separated into three fractions: (i) carbohydrate-rich fraction (QL-C; 71.3% w/w of QL); (ii) phytoecdysone, polyphenol and protein-rich fraction (QL-P, 13.3% w/w of QL); (iii) oil-rich fraction (QL-O, 10.8% w/w of QL). QL did not reduce cell viability in any of the four cell lines tested. QL, QL-P and QL-O each significantly inhibited MMP-1 mRNA expression in HDF at a concentration of 5 µg mL(-1) . QL and QL-P also significantly inhibited MMP-9 enzymatic activity, whereas QL-P demonstrated significant tyrosinase enzymatic inhibition. Furthermore, QL, QL-P, QL-O and 20HE significantly inhibited intracellular ROS production. CONCLUSION: This study is the first to demonstrate the MMP, tyrosinase and ROS inhibiting properties of multiple different phytochemical components derived from quinoa seeds. Our work indicates that quinoa phytochemicals may play a role in the treatment and prevention of skin ageing through a multiplicity of effects.


Assuntos
Chenopodium quinoa/embriologia , Metaloproteinase 1 da Matriz/efeitos dos fármacos , Inibidores de Proteases/farmacologia , Espécies Reativas de Oxigênio/metabolismo , Sementes/química , Células Cultivadas , Cromatografia Líquida , Humanos , Espectrometria de Massas , Metaloproteinase 1 da Matriz/genética , Monofenol Mono-Oxigenase/antagonistas & inibidores
12.
J Endocrinol Invest ; 36(9): 729-33, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23580027

RESUMO

BACKGROUND: Few data exist on the prevalence of female sexual dysfunction (FSD) in thyroid disorders. AIM: We evaluated FSD in women with thyroid diseases and in control age-matched healthy women to investigate the relationship between sexual function and thyroid hormones. METHODS: One hundred and four women with thyroid diseases and 53 controls participated in the study. Eighteen with hyperthyroidism (Group 1), 22 hypothyroidism (Group 2), 45 Hashimoto's thyroiditis (Group 3), 19 nodular goiter (Group 4) underwent thyroid function evaluation and sonography. The Female Sexual Function Index (FSFI) assessed sexual function. RESULTS: The prevalence of FSD was 46.1% in thyroid diseases and 20.7% in controls. Only in Group 4, the prevalence (68.4%) was significantly higher than in controls (p<0.005). The mean total FSFI score was 20.1 ± 7.1 in women with thyroid diseases and 25.6 ± 4.7 in the controls (p<0.001). Compared with controls, there was a significant decrease of desire in Group 2; desire, arousal and lubrication in Group 3; desire, arousal, lubrication, orgasm and satisfaction in Group 4. In thyroid diseases the prevalence of FSD was 53% and 42%, while in the controls was 55% and 20%, in menopausal and pre-menopausal groups, respectively. We found a significant inverse correlation between TSH and FSFI (r=-0.7, p=0.01) in Group 4, which showed the lowest FSFI score (17.8 ± 5.7) and the highest body mass index (28.4 ± 7.1 kg/m(2)). CONCLUSIONS: Women with thyroid diseases present a higher prevalence of FSD than controls. Although our findings suggest a higher impairment of sexual function in Group 4 and a role for TSH in FSD, further researches are needed.


Assuntos
Disfunções Sexuais Fisiológicas/epidemiologia , Disfunções Sexuais Psicogênicas/epidemiologia , Doenças da Glândula Tireoide/epidemiologia , Adulto , Índice de Massa Corporal , Feminino , Bócio Nodular/complicações , Bócio Nodular/epidemiologia , Humanos , Itália/epidemiologia , Menopausa , Pessoa de Meia-Idade , Pré-Menopausa , Prevalência , Disfunções Sexuais Fisiológicas/etiologia , Disfunções Sexuais Psicogênicas/etiologia , Doenças da Glândula Tireoide/complicações , Tireotropina/sangue
13.
Euro Surveill ; 17(45)2012 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-23153473

RESUMO

As of 4 November, 2012, 100 patients with an acute muscular Sarcocystis-like illness associated with travel to Tioman Island, Malaysia, have been identified. Thirty-five travelled there mostly during July and August 2011 and 65 mostly during July and August 2012, suggesting an ongoing outbreak. Epidemiological investigations are ongoing. Public health agencies and practicing clinicians should be aware of this rarely-reported disease in humans and consider it as differential diagnosis in travellers returning from Tioman Island.


Assuntos
Surtos de Doenças , Músculo Esquelético/parasitologia , Sarcocistose/epidemiologia , Viagem , Western Blotting , Creatina Quinase/sangue , Eosinófilos/metabolismo , Febre/complicações , Febre/diagnóstico , Humanos , Malásia/epidemiologia , Músculo Esquelético/patologia , Dor Musculoesquelética/complicações , Dor Musculoesquelética/etiologia , Dor Musculoesquelética/parasitologia , Sarcocystis/citologia , Sarcocystis/isolamento & purificação , Sarcocistose/diagnóstico , Sarcocistose/imunologia , Vigilância de Evento Sentinela , Testes Sorológicos
14.
Minerva Stomatol ; 61(11-12): 509-17, 2012.
Artigo em Inglês, Italiano | MEDLINE | ID: mdl-23207676

RESUMO

The dentinogenic ghost cell tumor (DGCT) is a rare benign odontogenic tumor histologically characterized by islands of odontogenic epithelium with the presence of ghost cells and dysplastic dentin at different stages of calcification. Central DGCT may have a locally invasive behavior with variable rates of recurrence. We report the distinguishing case of two central DGCTs localized bilaterally in the maxilla of a female patient in pediatric age, initially detected as complex odontomas associated with impacted teeth and surgically removed by means of piezoelectric bone surgery. After the removal of odontogenic lesions with the presence of calcified tissues, histopathological examination allows the identification of lesions that, although uncommon, show the potential of local invasiveness requiring an adequate follow-up in order to observe any sign of disease recurrence.


Assuntos
Tumores Odontogênicos/diagnóstico , Criança , Feminino , Humanos , Tumores Odontogênicos/patologia
15.
G Chir ; 33(11-12): 370-3, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23140918

RESUMO

Multiple endocrine neoplasia syndromes have since been classified as types 1 and 2, each with specific phenotypic patterns. MEN1 is usually associated with pituitary, parathyroid and paraneoplastic neuroendocrine tumours. The hallmark of MEN2 is a very high lifetime risk of developing medullary thyroid carcinoma (MTC) more than 95% in untreated patients. Three clinical subtypesdMEN2A, MEN2B, and familial MTC (FMTC) have been defined based on the risk of pheochromocytoma, hyperparathyroidism, and the presence or absence of characteristic physical features). MEN2 occurs as a result of germline activating missense mutations of the RET (REarranged during Transfection) proto-oncogene. MEN2-associated mutations are almost always located in exons 10, 11, or 13 through 16. Strong genotype-phenotype correlations exist with respect to clinical subtype, age at onset, and aggressiveness of MTC in MEN2. These are used to determine the age at which prophylactic thyroidectomy should occur and whether screening for pheochromocytoma or hyperparathyroidism is necessary. Specific RET mutations can also impact management in patients presenting with apparently sporadic MTC. Therefore, genetic testing should be performed before surgical intervention in all patients diagnosed with MTC. Recently, Pellegata et al. have reported that germline mutations in CDKN1B can predispose to the development of multiple endocrine tumours in both rats and humans and this new MEN syndrome is named MENX and MEN4, respectively. CDKN1B. A recent report showed that in sporadic MTC, CDKN1B V109G polymorphism correlates with a more favorable disease progression than the wild-type allele and might be considered a new promising prognostic marker. New insights on MEN syndrome pathogenesis and related inherited endocrine disorders are of particular interest for an adequate surgical and therapeutic approach.


Assuntos
Inibidor de Quinase Dependente de Ciclina p27/genética , Neoplasia Endócrina Múltipla/genética , Polimorfismo Genético , Inibidores de Proteínas Quinases/metabolismo , Neoplasias das Glândulas Suprarrenais/genética , Alelos , Animais , Biomarcadores/sangue , Progressão da Doença , Éxons , Genótipo , Humanos , Hiperparatireoidismo/genética , Neoplasia Endócrina Múltipla/diagnóstico , Neoplasia Endócrina Múltipla/cirurgia , Neoplasia Endócrina Múltipla Tipo 1/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/genética , Mutação de Sentido Incorreto , Fenótipo , Feocromocitoma/genética , Proto-Oncogene Mas , Medição de Risco , Fatores de Risco , Síndrome , Neoplasias da Glândula Tireoide/genética , Tireoidectomia , Resultado do Tratamento
16.
Pharmacogenomics J ; 11(6): 412-28, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20548326

RESUMO

Nonsteroidal anti-inflammatory drugs possess antiproliferative activities that can affect cancer cells. The aim of this study was to examine the antiproliferative effects of ibuprofen on the MKN-45 cell line. Cells were treated with ibuprofen for 24, 48 or 72 h, and cell proliferation was evaluated by cell counting and [(3)H]-thymidine incorporation. Using microarray technology, we studied changes in the gene expression profiles over time after ibuprofen treatment. Ibuprofen induced a dose- and time-dependent reduction in cell number without altering cell viability. Genes involved in the 'biological oxidation' and 'G(1)/S checkpoint' pathways were the most significantly represented at 24 h, whereas genes involved in the 'cell cycle' and 'DNA replication' pathways were represented at 48 and 72 h. Genes associated with the 'apoptosis' pathway were also significantly represented at 72 h. Modulation of the expression of p53 and p53-induced genes (CDKN1A/p21 and GADD45), which are involved in the G(1)/S transition, suggested an effect of ibuprofen on cell-cycle progression. Using flow cytometry, we observed an early block in the G(1) phase of the cell cycle after ibuprofen treatment. In addition, P450 family transcripts were upregulated and intracellular reactive oxygen species (ROS) was increased following 12 h of ibuprofen treatment. Ibuprofen induced ROS, which resulted in cellular alterations that promoted a p53-dependent G(1) blockade. These findings suggest that ibuprofen exerts its antiproliferative actions through cell-cycle control and the induction of apoptosis. Both of these mechanisms appear to be independent of ibuprofen's anti-inflammatory effects.


Assuntos
Adenocarcinoma/genética , Anti-Inflamatórios não Esteroides/farmacologia , Perfilação da Expressão Gênica , Ibuprofeno/farmacologia , Neoplasias Gástricas/genética , Adenocarcinoma/metabolismo , Adenocarcinoma/patologia , Apoptose/genética , Linhagem Celular Tumoral , Citometria de Fluxo , Humanos , Análise de Sequência com Séries de Oligonucleotídeos , Espécies Reativas de Oxigênio/metabolismo , Neoplasias Gástricas/metabolismo , Neoplasias Gástricas/patologia
17.
J Surg Case Rep ; 2021(6): rjab231, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34104410

RESUMO

Pseudo-aneurysms of the arteries of the lower limbs are a possible complication of leg trauma. Complications include rupture, infection, pain and distal embolization. This is a case of a 24-year-old man hospitalized after a car accident, in which we discovered a 1-cm large pseudo-aneurysm of the right superficial femoral artery. The pseudo-aneurysm in first place was treated by the interventional-radiologist for an endovascular repair by embolization with ONYX 34, but during the procedure the copolymer embolized in the arterial axe with complete obstruction of blood-flow in the lower limb. An urgent open surgical revascularization was then attempted by our team with the result of complete patency of the femoro-popliteal axis and of the tibial vessels. Embolization with ONYX is an effective and safe method, but it is susceptible to this type of complication for larger pseudo-aneurysms, where it is required an introduction of a larger quantity of polymer.

18.
Nanotechnology ; 21(22): 225605, 2010 Jun 04.
Artigo em Inglês | MEDLINE | ID: mdl-20453280

RESUMO

The deficiency of carbon nanotube (CNT) growth on temperature-sensitive substrates such as plastic tapes impedes the further progress in CNT electronics. We report a novel method that is able to offer the solution by selectively delivering energy via high radio frequency heating to carbon atoms for their catalytic assembly into individual CNTs. Direct growth of CNTs on a flexible kapton substrate was demonstrated. A mechanism of selective heating was discussed.

19.
J Endocrinol Invest ; 33(9): 618-23, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20436264

RESUMO

BACKGROUND: Recombinant-FSH (rFSH) added to hCG at dose of 450 IU weekly is effective in inducing spermatogenesis in patients with hypogonadotropic hypogonadism (HH), but there are no data on the use of lower doses. AIM: This observational retrospective study evaluated whether 150-225 IU of rFSH weekly were able to induce spermatogenesis in HH men who failed to start it with hCG alone. SUBJECTS AND METHODS: Thirty-four patients with pre-pubertal onset HH (20-44 yr old) without adverse fertility factors were considered for this study. After hCG pre-treatment they received also either rFSH (Group 1) or highly purified urinary FSH (hpFSH) (Group 2) 75 IU sc 2 or 3 times weekly. Semen analysis was performed every 3 months during pre-treatment and the 1st yr of combined therapy. Patients were also invited to refer pregnancies in their partners during the subsequent 12 months. RESULTS: Total sperm count/ejaculate did not show significant difference between 2 groups, while a significantly higher forward motility was observed in Group 1 (p<0.05). The median times to achieve sperm output thresholds (first sperm appearance, sperm concentration >1.5 or >5 mil/ml) were significantly lower in Group 1 (p<0.04, 0.03, and 0.001, respectively). A tendency to a shorter time to pregnancy was shown in partners of Group 1. CONCLUSIONS: Our data indicate that lower rFSH week dose than that so far used was able to induce potentially fertilizing sperm output in HH men previously treated with hCG. The rFSH effects are comparable to those of hpFSH but with a trend to a faster outcome achievement.


Assuntos
Fertilidade/efeitos dos fármacos , Hormônio Foliculoestimulante Humano/administração & dosagem , Hipogonadismo/tratamento farmacológico , Infertilidade Masculina/tratamento farmacológico , Espermatogênese/efeitos dos fármacos , Adulto , Relação Dose-Resposta a Droga , Feminino , Humanos , Hipogonadismo/complicações , Hipogonadismo/fisiopatologia , Infertilidade Masculina/complicações , Infertilidade Masculina/fisiopatologia , Masculino , Gravidez , Proteínas Recombinantes/administração & dosagem , Estudos Retrospectivos , Contagem de Espermatozoides , Resultado do Tratamento , Adulto Jovem
20.
Minerva Stomatol ; 59(5): 259-66, 267-70, 2010 May.
Artigo em Inglês, Italiano | MEDLINE | ID: mdl-20502431

RESUMO

AIM: Differentiation toward the osteoblastic phenotype is a complex phenomenon regulated by means of several factors. Numerous studies in vitro et in vivo showed that surface properties of titanium dental implants modulate cell proliferation and osteoblastic differentiation, affecting bone healing processes. Optimal superficial morphology is still controversial. The aim of the present study was to evaluate in vitro the effects of two different titanium surfaces on biological behaviour of human osteoblast-like cells SaOS-2 with regard to production of extra-cellular matrix (ECM) proteins. METHODS: Human osteoblast-like cells SaOS-2, cultured on commercially pure titanium disks with two different surface topographies, smooth and microstructured with sand-blasting and acid-etching treatment, were evaluated by investigating adhesion, proliferation and deposition of extra-cellular matrix (ECM) proteins Fibronectin, Tenascin and Collagen I. RESULTS: The different values of cellular adhesion at three hours and the increase of SaOS-2 proliferation values at the different experimental times on both evaluated surfaces didn't result statistically significant. ECM deposition analysis showed that Fibronectin, Tenascin and Collagen I were gradually produced, with not statistically significant differences for Fibrone-ctin and Tenascin and statistically significant differences for Collagen I. CONCLUSION: Implant surface properties modulate in vitro the biological behavior of osteoblasts-like cells SaOS-2. SaOS-2 cells proliferate on both evaluated surfaces, showing a more organized differentiation towards an osteoblastic phenotype in ECM proteins production when cultured on microstructured surface.


Assuntos
Proteínas da Matriz Extracelular/biossíntese , Osteoblastos/citologia , Osteoblastos/metabolismo , Titânio , Diferenciação Celular , Proliferação de Células , Células Cultivadas , Humanos , Fenótipo , Propriedades de Superfície
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