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Materials and Methods: This study included 66 patients with CLL, diagnosed between 2020 and 2022, and 100 healthy controls. HLA class I and class II genes (HLA-A/B/C, HLA-DQA1/DQB1/DPA1/DPB1, and HLA-DRB1/3/4/5) were investigated using next-generation sequencing technology. Results: Several HLA alleles were strongly associated with CLL. The most important finding was that HLA-DRB1∗04:02:01 (p=0.001, OR = 1.05) and HLA-DRB3∗02:01:01 (p=0.009, OR = 1.03) have a predisposing role in CLL development. Moreover, we identified that HLA-A∗24:02:01 0.01 (p=0.01, OR = 0.38), HLA-DQA1∗05:05:01 (p=0.01, OR = 0.56), HLA-DQB1∗03:02:01 (p=0.03, OR = 0.40), and HLA-DRB4∗01:03:01 (p=0.03, OR = 0.54 alleles have protective roles. Correlations between HLA expression and gender showed that women had a higher expression of protective HLA alleles when compared to men. Conclusions: Our data are the first to indicate that in Romanian patients with CLL, the HLA-A∗24:02:01 and HLA-DQA1∗05:05:01 alleles have a protective role against CLL development, whereas HLA-DRB1∗04:02:01 and HLA-DRB3∗02:01:01alleles are positively associated with CLL.
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Leucemia Linfocítica Crônica de Células B , Masculino , Humanos , Feminino , Leucemia Linfocítica Crônica de Células B/genética , Cadeias HLA-DRB1 , Cadeias HLA-DRB3 , Romênia/epidemiologia , Polimorfismo Genético/genética , Antígenos HLA-ARESUMO
Background and Objectives: Pregnant women with chronic kidney disease (CKD) are at high risk of adverse maternal and fetal outcomes. Preeclampsia (PE) superimposed on CKD is estimated to occur in 21%-79% of pregnancies. Both conditions share common features such as proteinuria and hypertension, making differential diagnosis difficult. Objective: The aim of this study was to evaluate the incidence and the clinical-biological predictors of preeclampsia in pregnant women with CKD. Material and Methods: We retrospectively analyzed 34 pregnant women with pre-existing CKD admitted to our department between 2008 and 2017. Results: Among the 34 patients, 19 (55.8%) developed PE and the mean time of occurrence was 31.26 ± 2.68 weeks of gestation. The median value of 24-h proteinuria at referral was 0.87 g/day (interquartile range 0.42-1.50) and 47.1% of patients had proteinuria of ≥1 g/day. Patients with PE tended to be more hypertensive, with a more decreased renal function at referral and had significantly higher proteinuria (1.30 vs 0.63 g/day, p = 0.02). Cox multivariate analysis revealed that proteinuria ≥1 g/day at referral and pre-existing hypertension were independently associated with PE (adjusted hazard ratio = 4.10, 95% confidence interval: 1.52-11.02, p = 0.005, adjusted hazard ratio = 2.62, 95% confidence interval: 1.01-6.77, p = 0.04, respectively). The cumulative risk of PE was significantly higher in pregnant women with proteinuria ≥1 g/day at referral (log-rank, p = 0.003). Proteinuria ≥ 1 g/day at referral and pre-exiting hypertension predicted PE development with accuracies of 73.5% and 64.7%, respectively. Conclusions: Pregnant patients with pre-existing CKD are at high risk of developing preeclampsia, while proteinuria ≥ 1 g/day at referral and pre-existing hypertension were independent predictors of superimposed preeclampsia.
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Pré-Eclâmpsia/diagnóstico , Gestantes , Insuficiência Renal Crônica/complicações , Adulto , Feminino , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Pré-Eclâmpsia/epidemiologia , Pré-Eclâmpsia/fisiopatologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/etiologia , Modelos de Riscos Proporcionais , Proteinúria/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , UrinaRESUMO
Background and objectives. Venous thromboembolic events (VTEs) are among the most important complications of nephrotic syndrome (NS). We conducted a study that aimed to determine the prevalence of inherited risk factors for VTE in NS and to identify which factors are independent predictors of VTE. Materials and Methods. Thirty-six consecutive patients with primary NS that underwent percutaneous kidney biopsy between January 2017 and December 2017 were enrolled in this retrospective, observational study. VTEs were the primary outcome. Baseline demographic and biochemical data were collected from medical records, and genetic testing was done for polymorphisms of Factor V, PAI, MTHFR, and prothrombin genes. Results. The incidence of VTE was 28%, and the median time to event was 3 months (IQR: 2-9). The prevalence of inherited risk factors was 14% for Factor V Leiden mutation, 5.6% for prothrombin G20210A, 44.5% for PAI, and 27.8% for each of the two polymorphisms of the MTHFR gene. On multivariate analysis, the presence of at least two mutations was independently associated with the risk of VTE (HR, 8.92; 95% confidence interval, CI: 1.001 to 79.58, p = 0,05). Conclusions. These findings suggest that genetic testing for inherited thrombophilia in NS could play an important role in detecting high-risk patients that warrant prophylactic anticoagulation.
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Síndrome Nefrótica/complicações , Tromboembolia/etiologia , Adulto , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/fisiopatologia , Prevalência , Estudos Prospectivos , Proteinúria/urina , Medição de Risco/métodos , Medição de Risco/normas , Fatores de Risco , Albumina Sérica/análise , Tromboembolia/fisiopatologiaRESUMO
Background: En bloc removal of the kidney with tumor thrombus excision in a multidisciplinary team remains the standard treatment for renal cell carcinoma (RCC) with tumor thrombus extension. In order to minimize the hemodynamic impact of the surgical blood loss, intraoperative cell salvage (IOCS) techniques can decrease the need for allogeneic blood and prevent blood transfusion related complications. Objective: In this article, we evaluated the safety of IOCS during radical nephrectomy with inferior vena cava thrombectomy under cardiopulmonary bypass with or without deep hypothermic circulatory arrest. Design and method: In this retrospective comparative multicenter analysis, clinical characteristics of 27 consecutive patients who underwent surgery with or without IOCS between 2012 and 2022 in three referral care units were collected into a database. The need for an allogenic blood transfusion (ABT) was also recorded, defined as any transfusion that occurred either intraoperatively or during the hospital stay. Results: The need for ABT in the cell saver arm was significantly smaller due to the reinfusion of rescued blood (p < 0.015). In multivariate analysis, no cell saver usage was an independent predictor for complications ⩾3 Clavien 3a [odds ratio (OR) 18.71, 95% CI 1.056-331.703, p = 0.046]. No usage of IOCS was an independent predictor for a lower risk of death (OR 0.277, 95% CI 0.062-0.825, p = 0.024). During follow-up, patients who received salvaged blood did not experience an increased risk for developing local recurrence or distant metastases. Conclusion: Transfusion of autologous blood is safe and can be using during nephrectomy and thrombectomy for advanced RCC.
Role of intraoperative cell salvage techniques in the management of renal tumors with advanced caval extension En bloc removal of the kidney with tumor thrombus excision in a multidisciplinary team remains the standard treatment for RCC with tumor thrombus extension. Intraoperative cell salvage techniques (IOCS) can decrease the need for allogeneic blood and prevent blood transfusion related complications. In this article we demonstrated that transfusion of autologous blood is safe and can be using during nephrectomy and thrombectomy for advanced renal cell carcinoma.
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IgA Nephropathy (IgAN) is characterized by mesangial deposition of dominant, polymeric, galactose-deficient IgA1 molecules of gut-associated lymphoid tissue origin. We sought to evaluate the efficacy of targeting the mucosal immune system dysregulation underlying IgAN pathogenesis with a pH-modified formulation of budesonide with a maximum release of active compound in the distal ileum and proximal colon.We did a retrospective study evaluating the efficacy of budesonide (Budenofalk) in the treatment of IgAN. From a retrospective cohort of 143 patients with IgAN followed in our department we identified 21 patients that received treatment with budesonide. These patients received budesonide at a dose of 9âmg/d in the first 12 months, followed by a dose reduction to 3âmg/d for the subsequent period. Only patients that received a 24-month treatment with budesonide were included in the analysis (nâ=â18). We matched the budesonide-treated cohort to 18 patients with IgAN treated with systemic steroids from the same retrospective cohort. Efficacy was measured as change in proteinuria, hematuria and estimated glomerular filtration rate over a 24-month period.Treatment with budesonide was associated with a 24-month renal function decline of -0.22 (95%CI, -8.2 to 7.8) ml/min/1.73m, compared to -5.89 (95%CI, -12.2 to 0.4) ml/min/1.73m in the corticosteroid treatment group (pâ=â0.44, for between group difference). The median reduction in proteinuria at 24-month was 45% (interquartile range [IQR]: -79%; -22%) in the budesonide group and 11% (IQR: -39%; 43%) in the corticosteroid group, respectively (Pâ=â.009, for between group difference). The median reduction in hematuria at 24-month was 72% (IQR: -90%; -45%) in the budesonide group and 73% (IQR: -85%; 18%) in the corticosteroid group, respectively (Pâ=â.22, for between group difference). Treatment with budesonide was well tolerated with minimal side effects.Budesonide (Budenofalk) was effective in the treatment of patients with IgAN at high-risk of progression in terms of reducing proteinuria, hematuria and preserving renal function over 24 months of therapy.
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Corticosteroides/normas , Budesonida/normas , Glomerulonefrite por IGA/tratamento farmacológico , Corticosteroides/efeitos adversos , Corticosteroides/uso terapêutico , Adulto , Budesonida/efeitos adversos , Budesonida/uso terapêutico , Feminino , Taxa de Filtração Glomerular/efeitos dos fármacos , Hematúria/tratamento farmacológico , Hematúria/prevenção & controle , Humanos , Masculino , Pessoa de Meia-Idade , Pontuação de Propensão , Proteinúria/tratamento farmacológico , Proteinúria/prevenção & controle , Estudos RetrospectivosRESUMO
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease, which is diagnosed especially in Mediterranean patients, but is a rare disorder in our geographical area. Due to its rarity and symptoms consisting mainly in recurrent episodes of fever and serositis, it may be mistaken with other, more frequent diseases, especially acute abdomen and systemic rheumatic diseases. The most important life-threatening complication is secondary amyloidosis, which usually affects kidneys, with proteinuria up to nephrotic syndrome and chronic kidney disease progressing to end-stage renal disease requiring dialysis or transplantation. In patients with suspected amyloidosis, kidney biopsy or submucosal rectal biopsy are the methods of choice for diagnosis. Kidney biopsy is also useful in patients with FMF who start to develop proteinuria, since other non-amyloid glomerular involvement may appear in FMF. Colchicine is now the gold standard for treatment, not only to reduce the frequency of attacks but also to improve renal prognosis. For this reason, the sooner the diagnosis is established the better the prognosis will be since the patient will benefit from the appropriate treatment with Colchicine. We present the case of a young female patient diagnosed through kidney biopsy with amyloid A (AA) amyloidosis after 30 years of evolution of FMF and we review the present knowledge regarding the pathogenesis and management of this rare genetic disease.
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Amiloidose/complicações , Febre Familiar do Mediterrâneo/complicações , Rim/patologia , Adulto , Amiloide/ultraestrutura , Amiloidose/diagnóstico , Diagnóstico Diferencial , Febre Familiar do Mediterrâneo/diagnóstico , Feminino , HumanosRESUMO
Nephrotic syndrome (NS) is a rare complication of hematopoietic cell transplantation (HCT) and is thought to represent a renal manifestation of chronic graft-versus-host disease (cGVHD). Glomerulopathies occur less often in recipients of autologous as compared to allogeneic HCT and, in this setting, renal pathology is less well characterized. This case report describes a 54-year-old man admitted for the evaluation of a nephrotic-range proteinuria. His past medical history included a ? light-chain secreting multiple myeloma (MM) for which he underwent autologous HCT. Prior to admission, the level of proteinuria on successive check-ups was over 3.5 g÷day, while on treatment with Losartan for the past six months for mild arterial hypertension. At the time of admission, the clinical examination was unremarkable and there were not any signs of cGVHD. Initial testing showed a nephrotic-range proteinuria (5.6 g÷day) with normal renal function, while excluding secondary causes of NS. The patient underwent a kidney biopsy that revealed the classic variant of focal and segmental glomerulosclerosis (FSGS). The patient was started on Cyclosporine 5 mg÷kg÷day and, after nine months, he experienced a partial remission (proteinuria 1.2 g÷day). This is the first report of FSGS as the etiology of autologous HCT-associated NS.
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Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Síndrome Nefrótica/etiologia , Condicionamento Pré-Transplante/efeitos adversos , Transplante Autólogo/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/patologia , Condicionamento Pré-Transplante/métodos , Transplante Autólogo/métodosRESUMO
INTRODUCTION: Smoking is an important risk factor not only for cardiovascular and pulmonary diseases, but also for the progression of chronic kidney disease of different etiologies. Nodular glomerulosclerosis is a renal pathology pattern, which was described in different kidney conditions, especially diabetic nephropathy. A very rare association among smoking, hypertension and nodular mesangial glomerulosclerosis has been recently described. CASE PRESENTATION: In this paper, we present the case of a non-diabetic male patient referred to our Department for advanced chronic kidney disease and nephrotic syndrome. After excluding different causes of secondary nephrotic syndrome, a kidney biopsy was performed. The patient was diagnosed with smoking associated nodular glomerulosclerosis, with a histological aspect closely resembling diabetic nephropathy. A low protein and low salt diet was started, accompanied by smoking cessation, the administration of diuretics, of antiproteinuric treatment with angiotensin receptor blocker and antihypertensive therapy. Under this therapy, after six months, the patient evolution was good with a clear improvement of kidney function and important reduction of proteinuria. DISCUSSION: We also present the possible factors that could be involved in the deleterious effects of smoking upon kidney structure endothelial dysfunction, angiogenesis, altered intrarenal hemodynamics, nervous sympathetic system, increased oxidative stress and, very important, the generation of advanced glycation end products, which are also implicated in the development of diabetic nephropathy. CONCLUSIONS: Although a rare condition, smoking associated nodular glomerulosclerosis is a diagnosis not to be missed when dealing with a heavy smoker patient, especially when hypertensive, and sometimes associating nephrotic syndrome and this diagnosis should be considered together with much more frequent causes of nephrotic syndrome.
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Nefropatias Diabéticas/etiologia , Rim/patologia , Fumar/efeitos adversos , Progressão da Doença , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
PURPOSE: To prospectively determine the efficacy of naptumomab estafenatox (Nap) + IFNα versus IFN in metastatic renal cell carcinoma (RCC). EXPERIMENTAL DESIGN: In a randomized, open-label, multicenter, phase II/III study, 513 patients with RCC received Nap (15 µg/kg i. v. in three cycles of four once-daily injections) + IFN (9 MU s.c. three times weekly), or the same regimen of IFN monotherapy. The primary endpoint was overall survival (OS). RESULTS: This phase II/III study did not meet its primary endpoint. Median OS/PFS for Nap + IFN patients was 17.1/5.8 months versus 17.5/5.8 months for the patients receiving IFN alone (P = 0.56; HR, 1.08/P = 0.41; HR, 0.92). Post hoc exploratory subgroup and trend analysis revealed that the baseline plasma concentrations of anti-SEA/E-120 (anti-Nap antibodies) for drug exposure and IL6 for immune status could be used as predictive biomarkers. A subgroup of patients (SG; n = 130) having concentrations below median of anti-SEA/E-120 and IL6 benefitted greatly from the addition of Nap. In SG, median OS/PFS for the patients treated with Nap + IFN was 63.3/13.7 months versus 31.1/5.8 months for the patients receiving IFN alone (P = 0.02; HR, 0.59/P = 0.02; HR, 0.62). Addition of Nap to IFN showed predicted and transient immune related AEs and the treatment had an acceptable safety profile. CONCLUSIONS: The study did not meet its primary endpoint. Nap + IFN has an acceptable safety profile, and results from post hoc subgroup analyses showed that the treatment might improve OS/PFS in a baseline biomarker-defined RCC patient subgroup. The results warrant further studies with Nap in this subgroup. Clin Cancer Res; 22(13); 3172-81. ©2016 AACR.
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Anticorpos Monoclonais/uso terapêutico , Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Renais/tratamento farmacológico , Enterotoxinas/uso terapêutico , Imunoconjugados/uso terapêutico , Neoplasias Renais/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticorpos/sangue , Anticorpos Monoclonais/efeitos adversos , Antineoplásicos/efeitos adversos , Biomarcadores/sangue , Intervalo Livre de Doença , Enterotoxinas/efeitos adversos , Enterotoxinas/imunologia , Feminino , Humanos , Imunoconjugados/efeitos adversos , Interferon-alfa/efeitos adversos , Interferon-alfa/uso terapêutico , Interleucina-6/sangue , Masculino , Pessoa de Meia-IdadeRESUMO
PURPOSE: Tasquinimod, a novel oral therapy targeting the tumor microenvironment, significantly improved progression-free survival (PFS) in a randomized, placebo-controlled phase II trial in men with metastatic castration-resistant prostate cancer (mCRPC). This phase III study was conducted to confirm the phase II results and to detect an overall survival (OS) benefit. PATIENTS AND METHODS: Men with chemotherapy-naïve mCRPC and evidence of bone metastases were assigned (2:1) to receive tasquinimod once per day or placebo until progression or toxicity. The primary end point was radiographic PFS (rPFS; time from random assignment to radiologic progression or death) per Prostate Cancer Working Group 2 criteria and RECIST 1.1. The study had 99.9% power to detect an rPFS hazard ratio (HR) of 0.6 with a two-sided alpha error of .05 and 80% power to detect a target HR of 0.8 for OS, the key secondary end point. RESULTS: In all, 1,245 patients were randomly assigned to either tasquinimod (n = 832) or placebo (n = 413) between March 2011 and December 2012 at 241 sites in 37 countries. Baseline characteristics were balanced between groups: median age, 71 years; Karnofsky performance status ≥ 90%, 77.3%; and visceral metastases, 21.1%. Estimated median rPFS by central review was 7.0 months (95% CI, 5.8 to 8.2 months) with tasquinimod and 4.4 months (95% CI, 3.5 to 5.5 months) with placebo (HR, 0.64; 95% CI, 0.54 to 0.75; P < .001). Median OS was 21.3 months (95% CI, 19.5 to 23.0 months) with tasquinimod and 24.0 months (95% CI, 21.4 to 26.9 months) with placebo (HR, 1.10; 95% CI, 0.94 to 1.28; P = .25). Grade ≥ 3 adverse events were more frequent with tasquinimod (42.8% v 33.6%), the most common being anemia, fatigue, and cancer pain. CONCLUSION: In chemotherapy-naïve men with mCRPC, tasquinimod significantly improved rPFS compared with placebo. However, no OS benefit was observed.
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Antineoplásicos/uso terapêutico , Neoplasias de Próstata Resistentes à Castração/tratamento farmacológico , Quinolonas/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/administração & dosagem , Antineoplásicos/efeitos adversos , Método Duplo-Cego , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Neoplasias de Próstata Resistentes à Castração/mortalidade , Neoplasias de Próstata Resistentes à Castração/patologia , Quinolonas/administração & dosagem , Quinolonas/efeitos adversosRESUMO
PURPOSE: The venous thromboembolic events (VTE) incidence is high in nephrotic syndrome (NS). We aimed to assess prospectively the risk of VTE in a large cohort of NS patients and to identify predictive factors for VTE, especially haemostasis-related parameters. METHODS: This is the prospective, observational study conducted in 256 adults with idiopathic NS. VTE were the study outcome. Clinical data, proteinuria, albuminuria, haemostasis and fibrinolysis parameters, and D-dimers were evaluated every 6 months. RESULTS: Median follow-up time was 24 [IQR 1272] months. VTE cumulative and rate incidence were 11 % and 4.4 per 100 patient-years. Baseline higher proteinuria,lower serum albumin, low antithrombin III activity, and,surprisingly, high ionized calcium were VTE independent predictors. Proteinuria and serum albumin cut-offs, and positive and negative predictive values (PPV and NPV) for VTE were 9.0 g/24 h (30 % PPV and 90 % NPV) and 1.5 g/dL (69 % PPV and 93 % NPV). CONCLUSIONS: The rate of VTE incidence of 4.4 per 100 patient-years found in this prospective study confirms the idiopathic nephrotic syndrome as a thromboembolism-generating condition. Severe and unremitting proteinuria and hypoalbuminemia,low antithrombin III activity, and, surprisingly, high ionized calcium are independent VTE predictors.
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Síndrome Nefrótica/epidemiologia , Tromboembolia Venosa/epidemiologia , Adulto , Idoso , Antitrombina III/metabolismo , Cálcio/sangue , Feminino , Seguimentos , Hemostasia , Humanos , Hipoalbuminemia/epidemiologia , Incidência , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/sangue , Síndrome Nefrótica/urina , Valor Preditivo dos Testes , Estudos Prospectivos , Proteinúria/epidemiologia , Curva ROC , Fatores de Risco , Tromboembolia Venosa/sangue , Tromboembolia Venosa/urinaRESUMO
BACKGROUND: Polyomavirus BK-associated nephropathy is a challenging and increasingly recognized cause of kidney transplant morbidity and graft failure. Reported prevalence can vary significantly between centers, averaging 5%. PATIENTS AND METHODS: The paper reports the clinical and pathologic findings in five patients with BK virus-induced nephropathy. We performed a retrospective study including adult patients with graft dysfunction admitted to our department between 2010-2013. Clinical and biological data were obtained every month during the follow-up period. The biopsies were performed in case of graft dysfunction. All biopsy specimens were examined in light microscopy, immunofluorescence and electronic microscopy. RESULTS: We studied 44 graft biopsies, and we found typical histological findings of polyoma BK nephropathy in five (11.4%) cases. All patients received immunosuppressive regimen based on calcineurin inhibitors, Mycophenolate Mofetil and Prednisone. Four of them were on Tacrolimus-based protocol and one patient was on Cyclosporine regimen. Age of transplant at diagnosis varied between 2 and 113 months (patient on Cyclosporine). In all cases, the BK virus nephropathy diagnostic was established taking into account histological findings, all patients presenting intranuclear viral inclusions seen on light microscopy and electronic microscopy. During the follow-up period, the renal dysfunction worsened in two of the five patients, one of them evolving towards ESRD, even though we minimized the immunosuppressive treatment and administered intravenous immunoglobulin. CONCLUSIONS: The prognostic for BK virus nephropathy patients is reserved. Histological picture of BK virus nephropathy is similar to the one of graft rejection, differential diagnosis being difficult in the absence of viral inclusions evidence.
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Vírus BK/fisiologia , Nefropatias/virologia , Transplante de Rim/efeitos adversos , Infecções por Polyomavirus/virologia , Adulto , Biópsia , Feminino , Humanos , Rim/patologia , Rim/ultraestrutura , Nefropatias/patologia , Masculino , Pessoa de Meia-Idade , Infecções por Polyomavirus/patologia , Estudos RetrospectivosRESUMO
INTRODUCTION AND OBJECTIVES: Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual ambiguities) or complete (the person appears to be a woman). The aim of this paper is to present the diagnosis and treatment of a case of testicular feminization. PATIENT AND METHODS: A 22-year-old patient is admitted at Gynecology for primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, but there is no hair in the groins and axillary areas, the labia are small and hypoplastic, the urinary meatus is normally inserted, and the vulva is unpigmented. The gynecological exam reveals that the hymen is present, the vagina has 1.5 cm in length, while the uterus is absent. At Endocrinology, the levels of gonadotropins were measured and found normal (FSH 3.18 mU/mL, LH 15 mU/mL), the progesterone was 5.79 nmol/L, estradiol was 82.39 pmol/L and the testosterone was 4.27 nmol/L. The karyotype was mapped in order to differentiate the androgen insensitivity syndrome from other genetic abnormalities, like the Klinefelter syndrome (46XXY), Turner syndrome (45XO), mixed gonadal dyssynergia (45XO/46XY) or tetragametic chimerism (46XX/46XY). These tests confirmed the suspected diagnosis - testicular feminization (46XY). The pelvic CT scan revealed the lack of uterus and ovaries, hypoplastic vagina, and intra-abdominal prepsoic testes. The testes were removed in order to avoid the malignant risk. We performed laparoscopic bilateral orchiectomy. RESULTS: Surgically, the patient had a simple evolution, being discharged in the second day postoperatory, and estrogen therapy was started from that moment on. Mentally, the patient kept thinking she was a woman, so the decision of telling her the truth was left to the parents. CONCLUSIONS: Testicular feminization is a rare disease that must be diagnosed and treated through close work between gynecologists, endocrinologists, geneticians, urologists, and psychiatrists. Bilateral laparoscopic orchiectomy is the best procedure to remove the intra-abdominal testes, in order to avoid their malignant transformation.
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Síndrome de Resistência a Andrógenos/patologia , Síndrome de Resistência a Andrógenos/diagnóstico por imagem , Síndrome de Resistência a Andrógenos/cirurgia , Feminino , Humanos , Masculino , Fenótipo , Radiografia , Túbulos Seminíferos/patologia , Túbulos Seminíferos/cirurgia , Testículo/patologia , Testículo/cirurgia , Adulto JovemRESUMO
The paper presents the case of a female patient who was admitted to our department because of prolonged febrile syndrome, altered general status and renal tumoral masses revealed by thoracic and abdominal CT. After thorough histological examination, including immunohisto-chemistry and in situ hybridization studies, we reached the diagnosis of renal pseudotumoral masses due to IgG4-related tubulointerstitial nephritis. The kidney is a distinct target organ affected by IgG4-related sclerosing disease, and the most frequent manifestation is tubulo-interstitial nephritis. We described the clinical, imagistic and histopathological features of kidney and urological involvement in IgG4-related sclerosing disease, especially focusing on IgG4-related tubulointerstitial nephritis. This is a rare case of IgG4-related sclerosing disease without extrarenal features, excepting lumboaortic lymphadenopathy.
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Granuloma de Células Plasmáticas/etiologia , Imunoglobulina G , Nefrite Intersticial/complicações , Feminino , Granuloma de Células Plasmáticas/diagnóstico por imagem , Humanos , Imunoglobulina G/imunologia , Pessoa de Meia-Idade , Nefrite Intersticial/diagnóstico por imagem , Nefrite Intersticial/imunologia , Tomografia Computadorizada por Raios XRESUMO
PURPOSE: The 2012 Kidney Disease: Improving Global Outcomes (KDIGO) guidelines on chronic kidney disease (CKD) introduced risk classes for adverse outcome based on estimated glomerular filtration rate (eGFR) and albuminuria categories (low-LR, moderately-MR, high-HR, very high risk-VHR). We aimed to investigate if such risk stratification is suitable in kidney transplant (KTx) recipients. METHODS: This single-center prospective study enrolled 231 prevalent KTx recipients [36 (34-48) years, 62 % male, eGFR 53.7 (50.9-56.4) mL/min]. The patients were stratified in risk classes in January 2011; clinical and laboratory data were collected every 6 months till June 2013. Individual slope of linear regression of all eGFR and time-averaged proteinuria (TAP) were computed. The composite endpoint was defined as >30 % decline in eGFR from 6 months after KTx to June 2013, dialysis initiation or death. RESULTS: Fifty-one patients reached the endpoint. They were younger, more often female, donor specific anti-HLA antibodies positive, noncompliant and smokers. TAP was 4 time greater (p < 0.0001) and eGFR abruptly declined [eGFR slope: -3.17 (-4.13 to -2.21) vs. 0.81 (0.45-1.3) mL/min per year, p < 0.0001] in the endpoint group. At baseline: 36 % LR, 23 % MR, 23 % HR and 18 % VHR, without differences between the groups. In the binary logistic regression model, VHR as compared to the other risk classes was an independent risk factor for poorer outcome. The final model also included female gender, cardiovascular events, smoking, GFR slope and BK virus infection. CONCLUSIONS: Risk group stratification according to KDIGO guideline on CKD may prove useful in predicting graft outcome, but this should be confirmed in larger cohorts.
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Taxa de Filtração Glomerular , Transplante de Rim , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Proteinúria/diagnóstico , Proteinúria/epidemiologia , Insuficiência Renal/diagnóstico , Insuficiência Renal/epidemiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Guias de Prática Clínica como Assunto , Valor Preditivo dos Testes , Estudos Prospectivos , Medição de RiscoRESUMO
Primary epididymal obstructive azoospermia (OA) is the most prevalent form of OA in nonvasectomized patients and has been less studied. We aim to assess the results with microsurgical vasoepididymostomy used in the treatment of men diagnosed with primary epididymal obstructive azoospermia and to identify the factors associated with natural pregnancy occurring after microsurgical reconstruction. This prospective study included consecutive patients with epididymal OA who underwent microsurgical reconstruction in our center. Clinical and biological data were obtained every three months during follow-up. Occurrence of natural pregnancy was the primary study outcome. In total, 36 patients underwent microsurgical reconstruction. The mean age was 34 ± 4.5 years (range 24-46 years). Median follow-up time was 15 [IQR 12-21] months. The total patency rate was 77.7% (n = 28). During follow-up, 8 (22.2%) natural pregnancies occurred. The overall live birth rate was 100%. Low FSH levels (HR: 0.22; 95% CI: 0.052-0.88; P = 0.032) and higher total motile sperm count (TMSC) (HR: 1.001; 95% CI 1-1.001; P = 0.012) were associated with a higher rate of natural pregnancy. Our data suggest that microsurgical vasoepididymostomy is an effective therapy of primary epididymal OA. Baseline lower FSH and higher TMSC were independent predictors for natural pregnancy occurrence.
RESUMO
PURPOSE: Tivozanib is a potent and selective tyrosine kinase inhibitor of vascular endothelial growth factor receptor 1 (VEGFR1), -2, and -3. This phase III trial compared tivozanib with sorafenib as initial targeted therapy in patients with metastatic renal cell carcinoma (RCC). PATIENTS AND METHODS: Patients with metastatic RCC, with a clear cell component, prior nephrectomy, measurable disease, and 0 or 1 prior therapies for metastatic RCC were randomly assigned to tivozanib or sorafenib. Prior VEGF-targeted therapy and mammalian target of rapamycin inhibitor were not permitted. The primary end point was progression-free survival (PFS) by independent review. RESULTS: A total of 517 patients were randomly assigned to tivozanib (n = 260) or sorafenib (n = 257). PFS was longer with tivozanib than with sorafenib in the overall population (median, 11.9 v 9.1 months; hazard ratio [HR], 0.797; 95% CI, 0.639 to 0.993; P = .042). One hundred fifty-six patients (61%) who progressed on sorafenib crossed over to receive tivozanib. The final overall survival (OS) analysis showed a trend toward longer survival on the sorafenib arm than on the tivozanib arm (median, 29.3 v 28.8 months; HR, 1.245; 95% CI, 0.954 to 1.624; P = .105). Adverse events (AEs) more common with tivozanib than with sorafenib were hypertension (44% v 34%) and dysphonia (21% v 5%). AEs more common with sorafenib than with tivozanib were hand-foot skin reaction (54% v 14%) and diarrhea (33% v 23%). CONCLUSION: Tivozanib demonstrated improved PFS, but not OS, and a differentiated safety profile, compared with sorafenib, as initial targeted therapy for metastatic RCC.
Assuntos
Antineoplásicos/uso terapêutico , Carcinoma de Células Renais/tratamento farmacológico , Neoplasias Renais/tratamento farmacológico , Terapia Neoadjuvante/métodos , Niacinamida/análogos & derivados , Compostos de Fenilureia/uso terapêutico , Quinolinas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/cirurgia , Intervalo Livre de Doença , Feminino , Nível de Saúde , Humanos , Estimativa de Kaplan-Meier , Neoplasias Renais/patologia , Neoplasias Renais/cirurgia , Masculino , Pessoa de Meia-Idade , Terapia de Alvo Molecular , Estadiamento de Neoplasias , Nefrectomia , Niacinamida/uso terapêutico , Razão de Chances , Qualidade de Vida , Receptores de Fatores de Crescimento do Endotélio Vascular/antagonistas & inibidores , Sorafenibe , Resultado do TratamentoRESUMO
INTRODUCTION: Bilateral Wilmns' tumors with an unfavorable histology requires a combined treatment (extensive surgery, polychimiotherapy, radiotherapy). OBJECTIVE: Presentation of the first renal transplant performed in Romania in a child with bilateral Wilms' tumor, at 3 years and 4 months after the end of a multimnodal treatment. MATERIAL AND METHODS: Patient C. N., born on 30.04.1998, was diagnosed in 04.2001 with right parenchymal renal tumor, polycystic kidney, left cystic renal tumor. 25.04.2001--right radical nephrectomy and partial left upper pole nephrectomy; histopathology examination: triphasic bilateral nephroblastoma, reactive lymph nodes, negative resection edges in the left kidney. 30.04-19.11.2001--polychemotherapy according to the NWTS-5 stages 2-4 focal anaplasia and radiotherapy of the right kidney bed (29.06.2001). 02.2002--a nephrotic syndrome on the remnant kidney which requires its excision and peritoneal dialysis. Abdominal control CT was normal in 03.2005. 11.03.2005- renal transplant from living related donor. RESULTS: Favorable post-transplant course with normal renal clearance values; at 2 months, normal urography control. CONCLUSIONS: The tumor pathology does not represent an absolute contraindication for renal transplantation. For the cases with extensive surgery, polychimiotherapy and radiotherapy correctly applied, a pre-transplant "tumor-free" period of at least 2 years is compulsory.