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1.
Front Pediatr ; 10: 862248, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35419322

RESUMO

Expert consensus papers recommend differentiating enuresis using questionnaires and voiding diaries into non- (NMNE) and monosymptomatic enuresis (MNE) is crucial at intake to decide the most appropriate workout and treatment. This national, Belgian, prospective study investigates the correlation, consistency, and added value of the two methods, the new against the old International Children's Continence Society (ICCS) definitions, and documents the prevalence of the two enuresis subtypes in our population. Ninety treatment-naïve enuretic children were evaluated with the questionnaire, and the voiding diary and the two clinical management tools were compared. Almost 30% of the children had a different diagnosis with each method, and we observed inconsistencies between them in registering Lower Tract Symptoms (κ = -0.057-0.432 depending on the symptom). Both methods had a high correlation in identifying MNE (rs = 0.612, p = 0.001) but not for NMNE (rs = 0.127, p = 0.248). According to the latest ICCS definitions, the incidence of MNE was significantly lower (7 vs. 48%) with the old standardization. Conclusion: The voiding diary and the questionnaire, as recommended by the ICCS at the screening of treatment-naïve enuretic patients, are considerably inconsistent and have significantly different sensitivities in identifying LUTS and thus differentiating MNE from NMNE. However, the high incidence of LUTS and very low prevalence of MNE suggest that differentiating MNE from NMNE to the maximum might not always correlate with different therapy responses.

2.
Urol Case Rep ; 4: 55-6, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26793582

RESUMO

TURP is a widespread urologic procedure that is performed by many urologists. This report describes a rare complication that causes serious morbidity because it is not recognized in time. This is also the first report of a prostatosymphyseal fistula treated without major surgery. Eventually diagnosis is made by a MRI 5 months after surgery. Decompressive surgery was necessary to treat pubic osteïtis with invalidating pain. Culture results revealed Escherichia coli but eventually the diagnosis was made by fistulography. Treatment consisted of bladder drainage and long-term antibiotic treatment and these could eventually heal the fistula.

3.
Eur J Med Genet ; 59(10): 499-501, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27633572

RESUMO

Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS.


Assuntos
Neoplasias Renais/genética , Proteínas Proto-Oncogênicas/genética , Neoplasias Cutâneas/genética , Síndrome de Smith-Magenis/genética , Proteínas Supressoras de Tumor/genética , Síndrome de Birt-Hogg-Dubé/complicações , Síndrome de Birt-Hogg-Dubé/genética , Síndrome de Birt-Hogg-Dubé/patologia , Éxons/genética , Predisposição Genética para Doença , Haploinsuficiência/genética , Humanos , Rim/patologia , Neoplasias Renais/complicações , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Mutação , Deleção de Sequência , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/patologia , Síndrome de Smith-Magenis/patologia
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