Avaliação ultra-sonográfica e urodinâmica em pacientes com incontinência urinária Ultrasonographic and urodynamic evaluation of patients with urinary incontinence

Objetivos: avaliar a concordância entre os diagnósticos urodinâmico e ultra-sonográfico de incontinência urinária, bem como correlacionar as variáveis de ambos os exames. Metodologia: Foram selecionadas 381 pacientes com perda de urina, entre as atendidas no Setor de Uroginecologia e Cirurgia Vaginal da Disciplina de Ginecologia da Escola Paulista de Medicina - Universidade Federal de São Paulo. Todas foram submetidas a estudo urodinâmico, seguindo a padronização da Sociedade Internacional de Continência, e ultra-sonografia do colo vesical, com transdutor endovaginal de 6 MHz. No estudo urodinâmico, medimos a pressão máxima de fechamento uretral (PMFU) e obtivemos o diagnóstico etiológico da perda de urina. As mulheres foram agrupadas segundo o diagnóstico urodinâmico em incontinência urinária de esforço, instabilidade do detrusor e incontinência urinária mista. Na ultra-sonografia, foram avaliados a posição do colo vesical em relação à borda inferior da sínfise púbica e sua mobilidade e os diâmetros da uretra e do colo vesical. Resultados: 1) o colo vesical, quando em repouso, esteve mais freqüentemente acima da borda inferior da sínfise púbica e, durante o esforço, abaixo ou na sua altura nos três grupos; 2) a mobilidade do colo vesical foi semelhante nos grupos; 3) não houve correlação significante entre PMFU e diâmetro da uretra e do colo vesical, tanto em repouso quanto ao esforço. Conclusão: a ultra-sonografia do colo vesical é sempre complementar à avaliação clínica e ao estudo urodinâmico.<br>Purpose: to evaluate the agreement between the urodynamic and ultrasonography diagnoses of urinary incontinence, as well as to correlate the variables of both examinations. Methodology: three hundred eighty-one patients with urine loss were selected, from the Sectior of Urogynecology and Vaginal Surgery of the Division of Gynecology, Escola Paulista de Medicina - Federal University of São Paulo. All of them were submitted to urodynamic study, according to the standardization of the International Society of Continence, and to ultrasonography of the bladder neck, with a 6 MHz trasvaginal transducer. We analyzed the maximum closing urethral pressure (MCUP) and the etiological diagnosis of the urine loss. In the ultrasonography, the position of the bladder neck was evaluated in relation to the inferior border of the pubic symphysis, and its mobility as well as the diameter of the urethra and bladder neck. The women were categoriaed according to the urodynamic study in to stress urinary incontinence, detrusor instability and mixed urinary incontinence. Results: 1) the bladder neck, at rest was most frequently above the inferior border of the pubic symphysis and, during effort, below or at the height of the bony reference, in the three groups; 2) the mobility of the bladder neck was similar in the groups; 3) there was no significant correlation between MCUP and the diameter of the urethra and of the bladder neck. Conclusion: we deem that ultrasonography of the bladder neck is always a complement to the clinical evaluation and the urodymanic study

Genetic and phenotypic attributes of splenic marginal zone lymphoma

Altres ajuts: Swiss Cancer Research, ID 3746, 4395, 4660, and 4705; Swiss National Science Foundation, IDSplenic marginal zone B-cell lymphoma (SMZL) is a heterogeneous clinico-biological entity. The clinical course is variable, multiple genes are mutated with no unifying mechanism, and essential regulatory pathways and surrounding microenvironments are diverse. We sought to clarify the heterogeneity of SMZL by resolving different subgroups and their underlying genomic abnormalities, pathway signatures, and microenvironment compositions to uncover biomarkers and therapeutic vulnerabilities. We studied 303 SMZL spleen samples collected through the IELSG46 multicenter international study (NCT02945319) by using a multiplatform approach. We carried out genetic and phenotypic analyses, defined self-organized signatures, validated the findings in independent primary tumor metadata and in genetically modified mouse models, and determined correlations with outcome data. We identified 2 prominent genetic clusters in SMZL, termed NNK (58% of cases, harboring NF-κB, NOTCH, and KLF2 modules) and DMT (32% of cases, with DNA-damage response, MAPK, and TLR modules). Genetic aberrations in multiple genes as well as cytogenetic and immunogenetic features distinguished NNK- from DMT-SMZLs. These genetic clusters not only have distinct underpinning biology, as judged by differences in gene-expression signatures, but also different outcomes, with inferior survival in NNK-SMZLs. Digital cytometry and in situ profiling segregated 2 basic types of SMZL immune microenvironments termed immune-suppressive SMZL (50% of cases, associated with inflammatory cells and immune checkpoint activation) and immune-silent SMZL (50% of cases, associated with an immune-excluded phenotype) with distinct mutational and clinical connotations. In summary, we propose a nosology of SMZL that can implement its classification and also aid in the development of rationally targeted treatments

Genetic and phenotypic attributes of splenic marginal zone lymphoma

: Splenic marginal zone B-cell lymphoma (SMZL) is a heterogeneous clinico-biological entity. The clinical course is variable, multiple genes are mutated with no unifying mechanism, and essential regulatory pathways and surrounding microenvironments are diverse. We sought to clarify the heterogeneity of SMZL by resolving different subgroups and their underlying genomic abnormalities, pathway signatures, and microenvironment compositions to uncover biomarkers and therapeutic vulnerabilities. We studied 303 SMZL spleen samples collected through the IELSG46 multicenter international study (NCT02945319) by using a multiplatform approach. We carried out genetic and phenotypic analyses, defined self-organized signatures, validated the findings in independent primary tumor metadata and in genetically modified mouse models, and determined correlations with outcome data. We identified 2 prominent genetic clusters in SMZL, termed NNK (58% of cases, harboring NF-κB, NOTCH, and KLF2 modules) and DMT (32% of cases, with DNA-damage response, MAPK, and TLR modules). Genetic aberrations in multiple genes as well as cytogenetic and immunogenetic features distinguished NNK- from DMT-SMZLs. These genetic clusters not only have distinct underpinning biology, as judged by differences in gene-expression signatures, but also different outcomes, with inferior survival in NNK-SMZLs. Digital cytometry and in situ profiling segregated 2 basic types of SMZL immune microenvironments termed immune-suppressive SMZL (50% of cases, associated with inflammatory cells and immune checkpoint activation) and immune-silent SMZL (50% of cases, associated with an immune-excluded phenotype) with distinct mutational and clinical connotations. In summary, we propose a nosology of SMZL that can implement its classification and also aid in the development of rationally targeted treatments