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1.
J Endocrinol Invest ; 2024 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-38244141

RESUMO

PURPOSE: Thyrotropin (TSH)-secreting pituitary adenoma (TSHoma) is a rare cause of TSH-dependent hyperthyroidism. The first therapeutic option is surgery. Medical treatment with somatostatin analogs is also effective. To obviate the need for lifelong drug therapy, gamma knife radiosurgery (GKRS) might be considered in selected patients. We report the largest series of patients with TSHoma treated by GKRS at a single center. METHODS: This study was a retrospective analysis of 18 consecutive patients with TSHoma treated by GKRS between 1994 and 2022. Normalization of hyperthyroidism, when present at the time of surgery, and control of tumor growth were the main outcomes of the study. RESULTS: The median follow-up after GKRS treatment was 114 months (IQR, 57-213 months; range 17-285 months). No patients had growth of the residual tumor after GKRS. Remission of hyperthyroidism occurred in 9 of the 11 (81.8%) patients who were hyperthyroid before GKRS. The probability of hyperthyroidism remission three years after GKRS was 59.1% (95% CI 27.9-90.3%). No major side effects occurred after GKRS. One patient out of the 15 patients (6.7%) with normal baseline adrenal function and follow-up longer than 3 years developed new onset hypoadrenalism, while hypogonadism did not occur in the 13 patients with baseline normal function. CONCLUSION: Our study shows that GKRS is an effective and safe adjuvant treatment for selected patients with residual or recurring TSHoma. The option of GKRS as an alternative treatment to lifelong medical treatment with somatostatin analogs should be thoroughly discussed with the patients.

2.
BMC Nephrol ; 22(1): 79, 2021 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-33673808

RESUMO

BACKGROUND: Whilst there are a number of publications comparing the relationship between body mass index (BMI) of kidney transplant recipients and graft/patient survival, no study has assessed this for a French patient cohort. METHODS: In this study, cause-specific Cox models were used to study patient and graft survival and several other time-to-event measures. Logistic regressions were performed to study surgical complications at 30 days post-transplantation as well as delayed graft function. RESULTS: Among the 4691 included patients, 747 patients were considered obese with a BMI level greater than 30 kg/m2. We observed a higher mortality for obese recipients (HR = 1.37, p = 0.0086) and higher risks of serious bacterial infections (HR = 1.24, p = 0.0006) and cardiac complications (HR = 1.45, p < 0.0001). We observed a trend towards death censored graft survival (HR = 1.22, p = 0.0666) and no significant increased risk of early surgical complications. CONCLUSIONS: We showed that obesity increased the risk of death and serious bacterial infections and cardiac complications in obese French kidney transplant recipients. Further epidemiologic studies aiming to compare obese recipients versus obese candidates remaining on dialysis are needed to improve the guidelines for obese patient transplant allocation.


Assuntos
Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Transplante de Rim , Obesidade/complicações , Adulto , Idoso , Estudos de Coortes , Feminino , França , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
3.
J Endocrinol Invest ; 44(10): 2243-2251, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33611756

RESUMO

PURPOSE: Nelson's syndrome (NS) is a long-term complication of bilateral adrenalectomy in patients with Cushing's disease. The best therapeutic strategy in NS has not been well defined. Gamma knife radiosurgery (GKRS) is very effective to stop the growth of the pituitary adenoma, which is the main goal of the treatment of patients with NS. We report the largest series of patients with NS treated by GKRS at a single center. METHODS: The study was an observational, retrospective analysis of 28 consecutive patients with NS treated by GKRS in our department between 1995 and 2019. All patients had a growing ACTH-secreting pituitary adenoma. The main outcome of the study was to assess by the Kaplan-Meier method the risk of tumor progression after GKRS. RESULTS: The median follow-up after GKRS treatment was 98 months (IQR 61-155 months, range 7-250 months). Two patients (7.1%) had a recurrence of disease during follow-up. The 10-year progression-free survival was 91.7% (95% CI 80.5-100%). No patient had deterioration of visual function or oculomotor function after GKRS. New onset of hypogonadism and hypothyroidism occurred in 18.8% and 14.3% of the patients at risk. CONCLUSION: Our study confirms that GKRS may stop the tumor growth in the majority of patients with NS, even though very aggressive adenomas may ultimately escape this treatment. Safety of GKRS was good in our experience, but due attention must be paid to planning the distribution of radiation to critical structures, especially in patients previously treated by radiation.


Assuntos
Adenoma/cirurgia , Síndrome de Nelson/cirurgia , Neoplasias Hipofisárias/cirurgia , Radiocirurgia/métodos , Adenoma/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Nelson/patologia , Neoplasias Hipofisárias/patologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
4.
Public Health ; 185: 1-2, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32502747
5.
J Endocrinol Invest ; 43(5): 575-585, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31797309

RESUMO

BACKGROUND: Sellar melanocytomas represent a small subgroup of primary melanocytic tumors. They arise from melanocytes located in the meningeal lining of the sellar floor or in the diaphragma sellae and this location is very uncommon. Usually, sellar melanocytomas are benign and slow-growing tumors with a high likelihood of recurrence. PURPOSE: To our knowledge, due to the rarity of this condition, there are no guidelines regarding their diagnosis and treatment in the medical literature to date. We have developed a narrative review, analyzing the available studies regarding primary sellar melanocytomas reported in the medical literature. We have found ten papers on this topic and all of them are case reports. In all patients, tumor diagnosis was performed after the occurrence of neurological symptoms, in particular progressive visual loss or endocrinological disorders. The diagnosis is difficult, and it requires several preoperative and postoperative investigations, but histological examination is crucial. CONCLUSIONS: Transsphenoidal surgery is the first-choice treatment. In case of tumor's recurrence or regrowth, the role of radiation therapy and chemotherapy is not entirely clear.


Assuntos
Melanócitos/patologia , Hipófise/patologia , Neoplasias Hipofisárias/patologia , Humanos , Hipófise/cirurgia , Neoplasias Hipofisárias/cirurgia
6.
Trials ; 20(1): 375, 2019 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-31227028

RESUMO

BACKGROUND: Post-transplant diabetes is a frequent and serious complication of kidney transplantation. There is currently no treatment to prevent or delay the disease. Nevertheless, identification of risk factors make it possible to target a population at risk of developing de novo diabetes. We hypothesized that a short-term treatment with vildagliptin may prevent new onset diabetes after transplantation (NODAT) in high-risk patients. METHODS/DESIGN: This is a multicenter, double-blind, placebo-controlled randomized clinical trial. Patients undergoing first kidney transplantation will be included from ten French transplant centers. Included patients will be randomized (1:1) to receive either vildagliptin 100 or 50 mg/day (depending on glomerular filtration rate) during 2 months (the first dose being administered before entering the operating theatres) or placebo. Additional antidiabetic therapy could be administered according to glycemic control. The primary outcome is the proportion of diabetic patients 1 year after transplantation, defined as patients receiving a diabetic treatment, or having a fasting glucose above 7 mmol/l, and/or with an abnormal oral glucose tolerance test. Secondary outcomes include glycated hemoglobin, the occurrence of acute rejection, infection, graft loss and patient death at 3 months, 6 months, and 12 months after transplantation. Outcomes will be correlated to clinical and general characteristics of the patient, cardiovascular history, nephropathy, dialysis history, transplantation data, biological data, health-related quality of life, and the cost-effectiveness of prevention of diabetes with vildagliptin. DISCUSSION: We have scarce data on the pharmacological prevention of post-transplant diabetes. If our hypothesis is verified, our results will have a direct application in clinical practice and could limit diabetes-associated morbidity, reduce cardiovascular complications, increase quality of life of renal transplant patients, and consequently promote graft and patient survival. Our results may possibly serve for non-transplant patients carrying a high-risk of diabetes associated with other co-morbidities. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02849899 . Registered on 8 February 2016.


Assuntos
Diabetes Mellitus/prevenção & controle , Transplante de Rim/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Vildagliptina/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Análise Custo-Benefício , Método Duplo-Cego , Hemoglobinas Glicadas/análise , Humanos , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Qualidade de Vida
7.
Eur J Clin Microbiol Infect Dis ; 38(7): 1203-1209, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30888550

RESUMO

In recent years, the seroprevalence of anti-hepatitis E virus immunoglobulins (HEV) has increased in European countries with significant variability among the different geographical areas. HEV infection is spread in a wide range of animal species of which domestic pigs and wild boar represent the main reservoirs of genotype 3 and 4 (the genotypes present also in Europe). European citizens are incidental hosts, mainly infected by direct contact or consumption of foods derived from undercooked or insufficient hygiene handling infected pork products or wild boar meat. Epidemiologically, the HEV incidence is low in humans but serological data show a high proportion of subclinical infection caused by genotypes 3 or 4. In the general population, asymptomatic infection represents a high potential risk in particular subjects such as blood component recipients or occupationally exposed workers. This review offers a landscape of the current epidemiological status of HEV infection (genotypes 1, 2, 3, 4, 7) both in European asymptomatic subjects, patients with chronic diseases, and domestic pig impact on humans. We also underline advantages/disadvantages of high sensitivity and specificity tests using for detecting viral RNA or anti-HEV antibodies.


Assuntos
Infecções Assintomáticas/epidemiologia , Doadores de Sangue , Vírus da Hepatite E/patogenicidade , Hepatite E/epidemiologia , Animais , Doença Crônica/epidemiologia , Europa (Continente)/epidemiologia , Genótipo , Anticorpos Anti-Hepatite/sangue , Hepatite E/diagnóstico , Vírus da Hepatite E/genética , Humanos , RNA Viral/sangue , RNA Viral/isolamento & purificação , Carne Vermelha/virologia , Estudos Soroepidemiológicos , Sus scrofa/virologia , Suínos/virologia
8.
Artigo em Inglês | MEDLINE | ID: mdl-29521567

RESUMO

The principal aim of this study was to monitor the occurrence of some metals and polycyclic aromatic hydrocarbons (PAHs) in fish and mussels from the Gulf of Naples. A comparison with previous researches of the same area was carried out, and the intakes of these compounds through the diet and their effect on the tolerable intake values (when available) were assessed. Cadmium (Cd), chromium (Cr), and lead (Pb) were detected by flameless atomic absorption spectroscopy (Cd, Cr, and Pb); arsenic (As) and mercury (Hg) were detected by applying the hydride method. PAHs were detected by high-performance liquid chromatography. Widespread contamination was found. Among the metals, Hg showed the highest maximum levels of 284.94 ng/g wet weight (ww) in fish and 480.00 ng/g ww in mussels. Chrysene, phenanthrene, fluoranthene, anthracene, and benzo[k]fluoranthene were the most common PAHs in fish, whereas benzo[a]anthracene, pyrene, phenanthrene, acenaphthylene, and acenaphthene were the most frequently occurring compounds in mussels. The concentrations of As, Cr, Hg, Pb, and PAHs in fish were found to decrease over a period of 30 years, whereas the Cd levels remained constant. The Hg, Pb, and PAH levels in mussels increased over the period 2010 to 2016. Finally, the average consumption of mussels led to the highest effect on the Tolerable Daily Intake of Hg, which was exceeded by 19%.


Assuntos
Arsênio/análise , Monitoramento Ambiental , Atividades Humanas , Metais/análise , Hidrocarbonetos Policíclicos Aromáticos/análise , Alimentos Marinhos/análise , Animais , Bivalves/química , Cádmio/análise , Cromo/análise , Monitoramento Ambiental/métodos , Produtos Pesqueiros/análise , Peixes , Humanos , Itália , Chumbo/análise , Mercúrio/análise , Poluentes Químicos da Água/análise
9.
J Endocrinol Invest ; 41(6): 711-717, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29159607

RESUMO

BACKGROUND: Congenital hypothyroidism is a frequent disease occurring with an incidence of about 1/1500 newborns/year. In about 75% of the cases, CH is caused by alterations in thyroid morphogenesis, defined "thyroid dysgenesis" (TD). TD is generally a sporadic disease but in about 5% of the cases a genetic origin has been demonstrated. Previous studies indicate that Dnajc17 as a candidate modifier gene for hypothyroidism, since it is expressed in the thyroid bud, interacts with NKX2.1 and PAX8 and it has been associated to the hypothyroid phenotype in mice carrying a single Nkx2.1 and Pax8 genes (double heterozygous knock-out). PURPOSE: The work evaluates the possible involvement of DNAJC17 in the pathogenesis of TD. METHODS: High-resolution DNA melting analysis (HRM) and direct sequencing have been used to screen for mutations in the DNAJC17 coding sequence in 89 patients with TD. RESULTS: Two mutations have been identified in the coding sequence of DNAJC17 gene, one in exon 5 (c.350A>C; rs79709714) and one in exon 9 (c.610G>C; rs117485355). The last one is a rare variant, while the rs79709714 is a polymorphism. Both are present in databases and the frequency of the alleles is not different between TD patients and controls. CONCLUSIONS: DNAJC17 mutations are not frequently present in patients with TD.


Assuntos
Biomarcadores/análise , Proteínas de Choque Térmico HSP40/genética , Mutação , Fator de Transcrição PAX8/genética , Reação em Cadeia da Polimerase em Tempo Real/métodos , Disgenesia da Tireoide/genética , Fator Nuclear 1 de Tireoide/genética , Criança , Análise Mutacional de DNA , Feminino , Humanos , Fenótipo , Prognóstico , Disgenesia da Tireoide/diagnóstico
10.
Transplant Proc ; 49(9): 2040-2049, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29149958

RESUMO

BACKGROUND: Two large, prospective studies (12-03; OSAKA) compared the efficacy and tolerability of prolonged-release versus immediate-release tacrolimus in kidney transplant patients also receiving mycophenolate mofetil and low-dose corticosteroids (without induction therapy). METHODS: Data were combined into one database to compare results over 24 weeks using 3 alternative endpoints: biopsy-confirmed acute rejection (BCAR); the Food and Drug Administration composite endpoint (graft loss, BCAR, and loss to follow-up), and the European Medicines Agency composite endpoint (graft loss, BCAR, and graft dysfunction). The 95% confidence intervals were calculated (10% noninferiority margin). RESULTS: Overall, 633 patients received prolonged-release tacrolimus (12-03, n = 331; OSAKA, n = 302) and 645 received immediate-release tacrolimus (n = 336; n = 309). Baseline characteristics were comparable. Proportionately more patients receiving prolonged-release tacrolimus had trough levels of 5-15 ng/mL on day 1 (60.8%) and 2 (56.6%) versus immediate-release tacrolimus (42.5% and 43.9%, respectively, both P < .001). Efficacy of prolonged-release and immediate-release tacrolimus were similar as assessed by BCAR (13.9% vs 14.1%, respectively), European Medicines Agency composite endpoint (40.3% vs 38.3%) and US Food and Drug Administration composite endpoint (21.5% vs 19.8%). CONCLUSIONS: Novel efficacy endpoints as required by the European Medicines Agency and US Food and Drug Administration demonstrate noninferiority of prolonged-release versus immediate-release tacrolimus. Significantly more patients treated with prolonged-release tacrolimus versus immediate-release tacrolimus achieved trough levels of 5 to 15 ng/mL early after transplantation. ClinicalTrials.govNCT00189839; NCT00717470.


Assuntos
Rejeição de Enxerto/prevenção & controle , Imunossupressores/administração & dosagem , Transplante de Rim , Tacrolimo/administração & dosagem , Corticosteroides/administração & dosagem , Adulto , Bases de Dados Factuais , Preparações de Ação Retardada , Quimioterapia Combinada , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Ácido Micofenólico/uso terapêutico , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Falha de Tratamento
11.
Am J Transplant ; 17(5): 1370-1379, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27862923

RESUMO

The aim of this study (ClinicalTrials.gov, NCT01744470) was to determine the efficacy and safety of two different doses of extended-release tacrolimus (TacER) in kidney transplant recipients (KTRs) between 4 and 12 mo after transplantation. Stable steroid-free KTRs were randomized (1:1) after 4 mo: Group A had a 50% reduction in TacER dose with a targeted TacER trough level (C0 ) >3 µg/L; group B had no change in TacER dose (TacER C0 7-12 µg/L). The primary outcome was estimated GFR at 1 year. Of 300 patients, the intent-to-treat analysis included 186 patients (group A, n = 87; group B, n = 99). TacER C0 was lower in group A than in group B at 6 mo (4.1 ± 2.7 vs. 6.7 ± 3.9 µg/L, p < 0.0001) and 12 mo (5.6 ± 2.0 vs. 7.4 ± 2.1 µg/L, p < 0.0001). Estimated GFR was similar in both groups at 12 mo (group A, 56.0 ± 17.5 mL/min per 1.73 m²; group B, 56.0 ± 22.1 mL/min per 1.73 m²). More rejection episodes occurred in group A than group B (11 vs. 3; p = 0.016). At 1 year, subclinical inflammation occurred more frequently in group A than group B (inflammation score [i] >0: 21.4% vs. 8.8%, p = 0.047; tubulitis score [t] >0: 19.6% vs. 8.7%, p = 0.076; i + t: 1.14 ± 1.21 vs. 0.72 ± 1.01, p = 0.038). Anti-HLA donor-specific antibodies appeared only in group A (6 vs. 0 patients, p = 0.008). TacER C0 should be maintained >7 µg/L during the first year after transplantation in low-immunological-risk, steroid-free KTRs receiving a moderate dose of mycophenolic acid.


Assuntos
Rejeição de Enxerto/etiologia , Isoanticorpos/sangue , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Tacrolimo/farmacologia , Doadores de Tecidos , Transplantados , Adolescente , Adulto , Idoso , Feminino , Seguimentos , Taxa de Filtração Glomerular , Rejeição de Enxerto/sangue , Rejeição de Enxerto/tratamento farmacológico , Sobrevivência de Enxerto/efeitos dos fármacos , Humanos , Imunossupressores/farmacologia , Isoanticorpos/imunologia , Testes de Função Renal , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Prognóstico , Estudos Prospectivos , Fatores de Risco , Adulto Jovem
12.
Am J Transplant ; 15(5): 1303-12, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25808994

RESUMO

Markers of epithelial-mesenchymal transition (EMT) may identify patients at high risk of graft fibrogenesis who could benefit from early calcineurin inhibitor (CNI) withdrawal. In a randomized, open-label, 12-month trial, de novo kidney transplant patients received cyclosporine, enteric-coated mycophenolate sodium (EC-MPS) and steroids to month 3. Patients were stratified as EMT+ or EMT- based on month 3 biopsy, then randomized to start everolimus with half-dose EC-MPS (720 mg/day) and cyclosporine withdrawal (CNI-free) or continue cyclosporine with standard EC-MPS (CNI). The primary endpoint was progression of graft fibrosis (interstitial fibrosis/tubular atrophy [IF/TA] grade increase ≥1 between months 3-12) in EMT+ patients. 194 patients were randomized (96 CNI-free, 98 CNI); 153 (69 CNI-free, 84 CNI) were included in histological analyses. Fibrosis progression occurred in 46.2% (12/26) CNI-free EMT+ patients versus 51.6% (16/31) CNI EMT+ patients (p = 0.68). Biopsy-proven acute rejection (BPAR, including subclinical events) occurred in 25.0% and 5.1% of CNI-free and CNI patients, respectively (p < 0.001). In conclusion, early CNI withdrawal with everolimus initiation does not prevent interstitial fibrosis. Using this CNI-free protocol, in which everolimus exposure was relatively low and administered with half-dose EC-MPS, CNI-free patients were overwhelmingly under-immunosuppressed and experienced an increased risk of BPAR.


Assuntos
Ciclosporina/administração & dosagem , Transição Epitelial-Mesenquimal/efeitos dos fármacos , Everolimo/administração & dosagem , Transplante de Rim , Rim/patologia , Insuficiência Renal/cirurgia , Adolescente , Adulto , Idoso , Biópsia , Inibidores de Calcineurina/administração & dosagem , Progressão da Doença , Feminino , Fibrose , Sobrevivência de Enxerto , Humanos , Terapia de Imunossupressão , Inflamação/patologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco , Resultado do Tratamento
13.
Am J Transplant ; 14(11): 2556-64, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25243534

RESUMO

One hundred ninety-seven patients received anti-T-lymphocyte globulins Fresenius, mycophenolate mofetil and delayed cyclosporine, and were randomized to ≥6-month corticosteroids (+CS; n=99) or no CS (-CS; n=98). One- and five-year actual graft survival (censored for death) was 93.2% and 86.4% in the +CS group versus 94.9% and 89.8% in the -CS group (5-year follow-up, p=0.487). Freedom from clinical rejection was 86.9% and 81.8% versus 74.5% and 74.5% (p=0.144), respectively, at 1 and 5 years; 5-year freedom from biopsy-proven rejection was 88.9% versus 83.7% (p=0.227). More late first rejections occurred in the +CS group. Significantly lower 5-year graft survival in patients experiencing rejection was observed for +CS (55.6% vs. 92.0%; p=0.005) with 8/18 versus 2/25 graft losses. Renal function at 5 years was stable and comparable (median serum creatinine, 159 vs. 145 µmol/L; creatinine clearance, 53.5 vs. 56.6 mL/min). More +CS patients developed diabetes, dyslipidemia and malignancies. Rejections in -CS patients occurred early after transplantation and did not impair long-term renal function. In patients receiving CS, rejections occurred later and with a higher risk for subsequent graft failure. A similar and not inferior 5-year efficacy profile and a reduced morbidity were observed in CS-free patients compared to patients who received CS for at least 6 months.


Assuntos
Transplante de Rim , Condicionamento Pré-Transplante , Adolescente , Adulto , Idoso , Feminino , Sobrevivência de Enxerto , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Taxa de Sobrevida , Resultado do Tratamento , Adulto Jovem
14.
Prog Urol ; 24(2): 94-101, 2014 Feb.
Artigo em Francês | MEDLINE | ID: mdl-24485078

RESUMO

OBJECTIVES: To assess treatment-related complication outcomes in the management of the bladder cuff removal by open excision (OE) or transurethral resection of the ureteral orifice (TURUO) after laparoscopic radical nephroureterectomy (LNU) in upper urinary tract urothelial carcinoma (UUT-UC). PATIENTS AND METHODS: We did a retrospective study involving patients having UUT-UC who underwent LNU from 2004 to 2012 in two references center. Flexible ureteroscopy was carried out for multiple biopsies. Patients were assigned to one of two different surgical groups consisting of LNU with OE versus TURUO for the bladder cuff removal. Perioperative characteristics, complication related treatment and oncological outcomes were collected during the follow-up. RESULTS: Overall, 29 patients underwent LNU over-time including 16 using LNU with OE and 13 LNU with TURUO. LNU+OE were older (66.5 years [48-87] [P<0.01]). Operative time was shorter (180 min vs. 240 min [P=0.01]) with a longer hospital stay (7 days vs. 5 days [P<0.01]) than TURUO technic. No difference in the complication rate was reported. LNU +OE was associated with higher grade (81.3% vs. 38.5% [P=0.026]) and more invasive tumor (37.5% vs. 24.1% [P=0.03]). Regardless the technic, the cancer-specific survival rate was 63.7 years without significant differences between technics. CONCLUSION: TURUO was shorter in hospital stay but had a longer operative time with no impact on the treatment-related complication. Oncological control not highlighted any difference between technics however longer follow up is expected for recommendations.


Assuntos
Carcinoma de Células de Transição/cirurgia , Neoplasias Renais/cirurgia , Laparoscopia , Nefrectomia/métodos , Ureter/cirurgia , Neoplasias Ureterais/cirurgia , Bexiga Urinária/cirurgia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
15.
Univ. psychol ; 12(2): 581-589, may.-agos. 2013. tab
Artigo em Inglês | LILACS | ID: lil-689623

RESUMO

The Williams-Beuren syndrome (SWB), also known as Williams syndrome, is a contiguous gene deletion of the region 7q.11.23. The main clinical characteristics are typical faces, supravalvular aortic stenosis, failure to thrive, short stature, transient neonatal hypercalcemia, delayed language, friendly personality, hyperacusis and intellectual disability. The diagnosis of SWB is confirmed by the detection of micro deletion by different techniques of molecular cytogenetics, FISH, MLPA or polymorphic markers. This study assessed the verbal intelligence quotient (IQ) and performance and visuo-spatial skills in children and adults with WBS. The composed group was of 31 WBS patients (19 M and 12 F), whose ages ranged from 9 to 26 years (M 14.45 y). All patients had the diagnosis confirmed molecularly. The tests used were the WISC-III, WAIS-III and Rey-Osterrieth Complex Figure Test. The results indicated a total IQ ranged from 51 to 86 (M 63): 22 with mild intellectual disability, 4 with moderate intellectual disability, 4 borderlines and 1 below the normal media. All patients had marked visual-spatial deficits. The results suggest nonverbal reasoning, visuo-spatial perception, spatial representation, working memory, motor planning and executive functions are very affected in this group.


El síndrome de Williams-Beuren (SWB), también conocido como síndrome de Williams, es un síndrome de deleción de genes contiguos de la región 7q.11.23. Se caracteriza por dimorfismo facial típico asociado a anomalías cardiovasculares, personalidad amigable, hiperacusia y deficiencia intelectual. El diagnóstico del SWB es confirmado por la detección de microdeleción a partir de las diferentes técnicas de citogenética molecular: FISH, marcadores polimórficos o MLPA. Este estudio evaluó el cociente intelectual verbal y manipulativo, así como las habilidades visuoespaciales en niños y adultos con SWB. El grupo estuvo formado por 31 pacientes con SWB (19 de sexo masculino y 12 de sexo femenino), cuyas edades variaron entre 9 y 26 años (media 14.45 años). Todos los pacientes tenían el diagnóstico confirmado molecularmente. Los test utilizados fueron las escalas WISC-III, WAIS-III y el Test Figuras Complejas Rey-Osterrieth. Los resultados indicaron un cociente intelectual que osciló de 51 a 86 (media 63), distribuido así: 22 con deficiencia intelectual leve, 4 con deficiencia intelectual moderada, 4 limítrofes, 1 en la media inferior. Todos los pacientes presentaron déficit visuoespacial. Los resultados sugieren que el razonamiento no verbal, la percepción visuoespacial, la representación espacial, la memoria de trabajo, la planificación motora y las funciones ejecutivas están muy comprometidos en el grupo estudiado.


Assuntos
Síndrome de Williams , Inteligência
16.
Am J Transplant ; 11(11): 2423-31, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21714848

RESUMO

Although end-stage renal disease related to AA amyloidosis nephropathy is well characterized, there are limited data concerning patient and graft outcome after renal transplantation. We performed a multicentric retrospective survey to assess the graft and patient survival in 59 renal recipients with AA amyloidosis. The recurrence rate of AA amyloidosis nephropathy was estimated at 14%. The overall, 5- and 10-year patient survival was significantly lower for the AA amyloidosis patients than for a control group of 177 renal transplant recipients (p = 0.0001, 0.028 and 0.013, respectively). In contrast, we did not observe any statistical differences in the 5- and 10- year graft survival censored for death between two groups. AA amyloidosis-transplanted patients exhibited a high proportion of infectious complications after transplantation (73.2%). Causes of death included both acute cardiovascular events and fatal septic complications. Multivariate analysis demonstrated that the recurrence of AA amyloidosis on the graft (adjusted OR = 14.4, p = 0.01) and older recipient age (adjusted OR for a 1-year increase = 1.06, p = 0.03) were significantly associated with risk of death. Finally, patients with AA amyloidosis nephropathy are eligible for renal transplantation but require careful management of both cardiovascular and infectious complications to reduce the high risk of mortality.


Assuntos
Amiloidose/complicações , Amiloidose/cirurgia , Doenças Cardiovasculares/etiologia , Sobrevivência de Enxerto , Falência Renal Crônica/etiologia , Transplante de Rim/mortalidade , Adulto , Feminino , Humanos , Infecções/etiologia , Infecções/mortalidade , Estimativa de Kaplan-Meier , Nefropatias/mortalidade , Nefropatias/cirurgia , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos , Resultado do Tratamento
17.
Transplant Proc ; 42(10): 4356-8, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21168698

RESUMO

The incidence of neoplastic complications after solid organ transplantation is increasing tremendously probably as the consequence of long term immunosuppression. Beside usual risk factors, the oncogenic role of some viruses like Epstein-Barr virus is well established. We report a case of a primitive EBV-induced liver leiomyosarcoma after renal transplantation.


Assuntos
Herpesvirus Humano 4/patogenicidade , Transplante de Rim/efeitos adversos , Leiomiossarcoma/etiologia , Neoplasias Hepáticas/etiologia , Adolescente , Feminino , Humanos , Leiomiossarcoma/virologia , Neoplasias Hepáticas/virologia
18.
J Prev Med Hyg ; 51(3): 121-4, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21361117

RESUMO

BACKGROUND: Candida albicans is the most common fungal pathogen isolated from clinical samples and is also the most common yeast species carried as a commensal by healthy individuals although some non-C. albicans species account for an important number of infections. OBJECTIVES: To compare nine phenotypic systems for C. albicans identification [API 20C AUX; RapID Yeast Identification panel (RYIP); Vitek2 ID-YST system; chromogenic media, CHRO-Magar, Oxoid Chromogenic Candida Agar (OCCA), Candida ID2, Candida Identification Agar, CandiSelect 4, and Chromalbicans Agar] with multiplex PCR. PATIENTS/METHODS: A collection of 390 yeast strains was obtained by routine isolation from oral and vaginal swabs. All of the yeasts isolated were tested for germ tube formation, and then submitted to a multiplex PCR protocol tested in previous studies, and to nine phenotypical commercial methods, together with the reference ATCC strains. Comparison was limited to the ability of the tests to identify C. albicans. RESULTS: 253 isolates were provisionally identified as C. albicans by germ tube, and their identities were further confirmed with the multiplex PCR. Sensitivity of phenotypical systems ranged from 81.9% (Vitek2) to 87.7% (Candida ID2 e CHROMagar). For specificity, the highest value was 96.8% for Candida ID2, and the lowest value (75.1%) was for Chromalbicans Agar. CONCLUSIONS: Although with differences in discriminatory power, the methods tested showed overall acceptable levels of sensitivity and specificity respect to the multiplex PCR; therefore, all could be useful for C. albicans identification where molecular differentiation is not available.


Assuntos
Candida albicans/classificação , Candidíase/microbiologia , Técnicas de Tipagem Micológica/métodos , Candida albicans/genética , Candida albicans/isolamento & purificação , Feminino , Humanos , Itália , Boca/microbiologia , Fenótipo , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade , Esfregaço Vaginal
19.
Clin Exp Dermatol ; 35(5): 505-8, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19843083

RESUMO

The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis. A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29). Three patients were identified. Dermatologists should be aware of this prominent early feature and investigate unexplained cutaneous vascular lesions to detect FD.


Assuntos
Angioceratoma/patologia , Doença de Fabry/patologia , Neoplasias Cutâneas/patologia , Adulto , Angioceratoma/genética , Biópsia , Criança , Doença de Fabry/genética , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Neoplasias Cutâneas/genética , Adulto Jovem
20.
Transplant Proc ; 41(8): 3329-32, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19857743

RESUMO

The calcineurin inhibitors (CNI) cyclosporine micro emulsion (CyA-ME) and tacrolimus (Tac) both display renal and vascular toxicities. We undertook a single-center retrospective study among 149 surviving liver transplant recipients. The primary outcome was kidney function over 10 years posttransplant, evaluating the glomerular filtration rate (GFR) by the abbreviated Modification of Diet in Renal Disease formula with subsequent Kidney Disease Outcomes Quality Initiative staging. The secondary outcomes included correlations between CNI trough levels (C0), GFR, and items of cardiovascular toxicity. At 1 and 5 years, the mean GFRs were 74.2 and 76.9 mL/min/1.73 m(2) under Tac versus 62.8 and 66.0 mL/min/1.73 m(2) under CyA-ME (P < .001). The mean value in favor of Tac was + 10 mL/min/1.73 m(2). Distribution of GFR stages showed more Tac patients at stage 1 or 2 and more at stage 4 or 5 under CyA-ME. There was no significant correlation between CNI-C0 and GFR. Switches between CNI or to mycophenolate mofetil did not show any significant GFR improvement. Patients under CyA-ME displayed significantly higher blood pressures with 3 requiring dialysis versus none under Tac. In conclusion, we observed that liver transplant patients under Tac maintained significantly better renal function with less progression to dialysis as compared with CyA-ME, indicating a lower renal and vascular (lower BP) toxicity.


Assuntos
Inibidores de Calcineurina , Ciclosporina/efeitos adversos , Taxa de Filtração Glomerular/efeitos dos fármacos , Imunossupressores/efeitos adversos , Transplante de Fígado/fisiologia , Tacrolimo/efeitos adversos , Adolescente , Adulto , Idoso , Ciclosporina/uso terapêutico , Feminino , Seguimentos , Alimentos Formulados , Taxa de Filtração Glomerular/fisiologia , Humanos , Imunossupressores/uso terapêutico , Testes de Função Renal , Hepatopatias/classificação , Hepatopatias/cirurgia , Transplante de Fígado/imunologia , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Estudos Retrospectivos , Tacrolimo/uso terapêutico , Transplante Homólogo/fisiologia , Adulto Jovem
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