A5020736541- Renal Diseases and Glomerulopathies
- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Tuberous Sclerosis Complex Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Renal cell carcinoma treatment
- Celiac Disease Research and Management
- Chronic Kidney Disease and Diabetes
- Pediatric Urology and Nephrology Studies
- Molecular Biology Techniques and Applications
- Vascular Tumors and Angiosarcomas
- Pancreatitis Pathology and Treatment
- Biomedical Research and Pathophysiology
- Organ Donation and Transplantation
- Nuclear Structure and Function
- Dialysis and Renal Disease Management
- Cystic Fibrosis Research Advances
- Genetic Syndromes and Imprinting
- Islanding Detection in Power Systems
- Histiocytic Disorders and Treatments
- Pediatric Hepatobiliary Diseases and Treatments
- Laser Applications in Dentistry and Medicine
- Metabolism, Diabetes, and Cancer
- Pregnancy and Medication Impact
- RNA Research and Splicing
Universidade de São Paulo
2015-2024
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2023-2024
Background Lymphangioleiomyomatosis (LAM) is a rare disease that can occur sporadically (S-LAM) or associated with the tuberous sclerosis complex (TSC-LAM). The natural history of LAM not completely understood, including whether there difference between clinical courses two forms. This study aimed to compare clinical, functional and tomographic features S-LAM TSC-LAM, evaluate annual rates change in lung function. Methods retrospective cohort included patients followed up 1994 2019....
Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disorder, characterized by cyst development leading to end-stage disease. Although appropriate choice of suitable reference critical for quantitative RNA analysis, no comparison frequently used “housekeeping” genes available. Here, we determined validity 7 candidate housekeeping ( Actb , Actg1 B2m Gapdh Hprt Pgam1 and Ppia ) in kidney tissues from mouse models orthologous ADPKD, including a...
Abstract Smoking has been associated with renal disease progression in ADPKD but the underlying deleterious mechanisms and whether it specifically worsens cardiac phenotype remain unknown. To investigate these matters, Pkd1 -deficient cystic mice noncystic littermates were exposed to smoking from conception 18 weeks of age and, along nonexposed controls, analyzed at 13–18 weeks. Renal index cyst-lining cell proliferation higher than animals. increased serum urea nitrogen independently...
Abstract Background Cyst infection is a prevalent complication in autosomal dominant polycystic kidney disease (ADPKD) patients, however therapeutic and diagnostic approaches towards this condition remain unclear. The confirmation of likely episode cyst by isolating the pathogenic microorganism clinical scenario possible only minority cases. available antimicrobial treatment guidelines, therefore, might not be appropriate to some patients. Case presentation We describe two unique cases...
Background. Chagas disease caused by Trypanosoma cruzi (T. cruzi) affects approximately six million individuals worldwide. Clinical manifestations are expected to occur due the parasite persistence and host immune response. Herein we investigated potential associations between IL1B, IL6, IL17A or IL18 polymorphism profiles cardiomyopathy T. parasitemia, as well impact of HIV infection on cardiopathy. Methods. 206 patients 90 control were analyzed. IL1B rs1143627 T>C, IL6 rs1800795 C>G,...
Background Schistosoma mansoni schistosomiasis (SM) remains a public health problem in Brazil. Renal involvement is classically manifested as glomerulopathy, most often membranoproliferative glomerulonephritis or focal and segmental glomerulosclerosis. We report case of collapsing glomerulopathy (CG) associated with SM high-risk APOL1 genotype (HRG). Case A 35-year-old male was admitted for hypertension an eight-month history lower-limb edema, foamy urine, increased abdominal girth. He had...
Abstract Renal angiomyolipomas hemorrhage is associated with their size and vascular constitution. The effects of sirolimus on different components was analyzed in patients tuberous sclerosis complex, sporadic lymphangioleiomyomatosis multiple angiomyolipomas. Thirty from 14 treated were retrospectively evaluated. A Hounsfield-unit threshold used to classify fat-rich, fat-poor intermediate-fat tumors, categorize tumor compartments fat rich, poor, intermediate highly vascularized. Diameter...
Collapsing glomerulopathy (CG) is most often associated with fast progression to kidney failure an incidence apparently higher in Brazil than other countries. However, the reason for this occurrence unknown. To better understand this, we performed integrated analysis of clinical, histological, therapeutic, causative genetic and ancestry data a highly genetically admixed cohort 70 children adult patients idiopathic CG (ICG). The disease onset occurred at 23 (interquartile range: 17-31) years...
Glomerulopathy with fibronectin deposits is an autosomal dominant disease associated proteinuria, hematuria, hypertension and renal function decline. Forty percent of the cases are caused by mutations in FN1, gene that encodes fibronectin.This report describes two deposits, involving a 47-year-old father 14-year-old son. The biopsies showed glomeruli endocapillary hypercellularity large amounts mesangial subendothelial eosinophilic deposits. Immunohistochemistry for was markedly positive....
Kidney involvement appears to be frequent in coronavirus disease 2019 (COVID-19). Despite this, information concerning renal COVID-19 is still scarce. Several mechanisms appear involved the complex relationship between virus and kidney. Also, different morphological patterns have been described kidneys of patients with COVID-19. For some authors, however, this association may just a coincidence. To investigate issue, we propose assessing morphology associated at pathology reference center...
A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney was referred a quaternary care center due significantly increased abdominal girth. Her physical examination revealed tense ascites and collateral veins. 10-L paracentesis improved discomfort disclosed transudate, suggestive of portal hypertension. computed tomographic scan massive hepatomegaly caused by multiple cysts variable sizes, distributed throughout all hepatic segments....
Objective: The present study aimed to evaluate the effectiveness of application photobiomodulation therapy (PBMT) in prevention recurrent herpes labialis (RHL) through a randomized controlled clinical trial. Background data: RHL is lifelong infection that effects patients' quality life. In literature PBMT has shown positive results preventing RHL, decreasing recurrences and severity lesions. Despite good reported, there are still few studies published on subject. Methods: For this study, 158...
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant disease, characterized by the presence of benign tumors in several organs, including kidneys. Cystic disease and angiomyolipomas (AML) are most frequent TSC-related renal lesions, which may be present since childhood. Renal AMLs, up to 80% patients, grow over time, leading serious complications, such as bleeding chronic kidney (CKD). mTOR inhibitors (mTOR-i) have been proved safe effective therapy for TSC AMLs regression,...
SUMMARY Lipodystrophies are characterized by complete or selective loss of adipose tissue and can be acquired inherited. Familial partial lipodystrophy (FPLD) is a hereditary commonly caused mutations in the LMNA gene. Herein, we report two cases FPLD associated with podocytopathies. Patient 1 was diagnosed heterozygous p.Arg482Trp variant had normal glucose tolerance hyperinsulinemia. During follow-up, she developed nephrotic-range proteinuria. Renal biopsy consistent minimal change disease. [...]
The kidney is a frequent target of SARS-CoV-2, potentially developing lesions in glomeruli, vessels, and tubulointerstitium response to this infection. Herein we present the analysis first large Latin American cohort adult patients undergoing biopsy due COVID-19-associated disorders. This retrospective, multicenter, national study was based on collection information demographics, comorbidities, laboratory data, histology, therapy, therapeutic response. Patients diagnosed with collapsing...
Abstract Background Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant disease caused by mutations in APOE , the gene which encodes apolipoprotein E. LPG mainly affects Asian individuals, however occasional cases have also been described Americans and Europeans. Herein we report two unrelated Brazilian patients with whom genetic analyses revealed APOE-Osaka/Kurashiki variant. Case presentation - case 1 A 29-year-old Caucasian male sought medical attention complaints of face...
Amyloidosis is a disease caused by extracellular deposits of amyloid, an insoluble, fibrillary material derived from protein precursors that assumes α-sheet conformation, developing the capacity auto-aggregation, deposition, and tissue toxicity.1,2 The nature amyloid highly variable, including localized or systemic deposition expression as quickly lethal disorder incidental finding. A total 36 amyloidogenic proteins have been identified so far in human beings, leading to clinical...