Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease / Macrotrombocitopenia, disfunção renal e síndrome nefrótica em paciente jovem do sexo masculino: relato de caso de doença relacionada ao MYH9

ABSTRACT MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts. Renal alterations were microhematuria, nephrotic-range proteinuria (up to 7.5 g/24h), and rapid loss of renal function. The decline per year of the glomerular filtration rate was 20 mL/min/1.73m2 for five years. Blockade of the renin-angiotensin system, the only recommended therapy for slowing the progression of this nephropathy, was prescribed. Although MYH9-related disease is a rare cause of glomerulopathy and end-stage renal disease, awareness of rare genetic kidney disorders is essential to ensure accurate diagnosis and proper management of orphan disease patients.

RESUMO A doença relacionada ao MYH9 é um distúrbio autossômico dominante causado por mutações no gene MYH9 que codifica a cadeia pesada da miosina não muscular IIA no cromossomo 22q12. Ela é caracterizada por macrotrombocitopenia congênita, tendência a sangramento, perda auditiva e catarata. A nefropatia ocorre em aproximadamente 30% dos pacientes. O presente artigo relata o caso de um paciente com doença relacionada ao MYH9 portador de mutação missense de novo no exon 1 do gene MYH9 [c.287C > T; p.Ser(TCG)96(TTG)Leu]. Com a exceção de catarata, o paciente apresentou todas as manifestações fenotípicas da doença. As alterações renais incluíram micro-hematúria, proteinúria nefrótica (até 7,5 g/24h) e perda rápida da função renal. O declínio anual da taxa de filtração glomerular foi de 20 mL/min/1,73 m2 durante cinco anos. Foi receitado bloqueio do sistema renina-angiotensina, a única terapia recomendada para retardar a progressão dessa nefropatia. Embora a doença relacionada ao MYH9 seja uma causa rara de glomerulopatia e doença renal terminal, a conscientização sobre distúrbios genéticos renais raros é essencial para garantir o diagnóstico preciso e o manejo adequado dos pacientes com tal doença órfã.

Fatores associados à ressecção incompleta do câncer não melanoma / Factors associated with incomplete resection of non-melanoma cancer

Introdução: Analisar fatores associados e taxa de positividade de margem cirúrgica após ressecção primária de Câncer de Pele Não Melanoma (CNM). Métodos: Estudo transversal, quantitativo, realizado mediante a revisão de prontuários de pacientes submetidos à ressecção cirúrgica de carcinoma basocelular (CBC) e espinocelular (CEC) de pele. Foram estudadas as seguintes variáveis: idade, tipo de câncer, localização, diâmetro, variante histológica, presença de ulceração, presença e ressecção de lesões associadas e presença de comprometimento de margens cirúrgicas. Resultados: Foram inclusos 183 paciente no estudo. Destes, 130 eram CBC (71%) e 53 eram CEC (29%). A taxa global de comprometimento de margem foi de 13,1%, sendo 21 CBC (16%) e 3 CEC (5,66%). Margens cirúrgicas positivas estiveram mais associadas a lesões do tipo CBC (p<0,05) e em lesões localizadas em nariz e pálpebra (p<0,05). Presença de ulceração, diâmetro das lesões e variante histológica não foram associadas a uma maior taxa de ressecções incompletas. Conclusão: Nossa taxa global de ressecção incompleta de Câncer de Pele (CNM) apresenta-se semelhante ao encontrado na literatura. Lesões por CBC ou localizadas em nariz e pálpebra têm maiores taxas de positividade de margem após ressecção primária (AU)

Introduction: To analyze associated factors and surgical margin positivity rate after primary resection of Non-Melanoma Skin Cancer (NMC). Methods: A cross-sectional, quantitative study was carried out by reviewing medical records of patients submitted to surgical resection of basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) of the skin. The following variables were studied: age, type of cancer, location, diameter, histological variant, presence of ulceration, presence and resection of associated lesions, and presence of surgical margins involvement. Results: 183 patients were included in the study. Of these, 130 were BCC (71%) and 53 were SCC (29%). The overall rate of margin involvement was 13.1%, of which 21 were CBC (16%) and 3 SCC (5.66%). Positive surgical margins were more associated with BCC lesions (p <0.05) and lesions located in the nose and eyelid (p <0.05). Presence of ulceration, lesion diameter and histological variant were not associated with a higher rate of incomplete resections. Conclusion: Our overall rate of incomplete resection of Skin Cancer is similar to that found in the literature. Lesions by BCC or located in the nose and eyelid have higher rates of margin positivity after primary resection (AU)

Hospital-associated funguria: analysis of risk factors, clinical presentation and outcome

Fungal urinary tract infections are an increasing problem in hospitalized patients. Funguria may be a result of contamination of the urine specimen, colonization of hte urinary tract, or may be indicative of true invasive infection. In this study, we report the risk factors, clinical features, treatments and outcome in a group of 68 hospitalized patients (adults and children) with fungal isolates recovered from 103 urinary samples. Underlying medical conditions were present in most patients. In the pediatric group, urinary tract abnormalities (86) and prematurity (19)accounted for the majority of the cases. Diabetes mellitus (28), nephrolithiasis, and benign prostatic hyperplasia were the most common diseases in adults. Indwelling urethral catheters were noted in 38 of the pediatric patients and in 43 of adults during hospitalization. Candida albicans strains were responsible for 97 and 75 of positive cultures in children and adults, respectively. Symptoms such as fever, dysuria, frequency and flank pain were generally absent in both groups. Fluconazole was the most frequent antifungal utilized (61) in children and ketoconazole in the adult group (42). Removing the urinary catheter was attempted in 6 pediatric patients (29) and in only 8 adults (17). One patient (4) in the pediatric group died compared to 10 in the adult group (21, p=0.04). Successful diagnosis and treatment of funguria depends on a clear understanding of the risk factors and awareness of fungal epidemiology.

Eficácia da eritropoietina administrada por via intravenosa em doses baixas na anemia associada à insuficiencia renal crônica. Estudo de 20 pacientes em hemodiálise / Efficacy of the Erythropoietin maneged for saw intravenosa in loiw doses inthe associated anemia the chronical renal failure. Study pf 20 patients in hemodialysis

Foi estudado o efeito do tratamento com a eritropoietina (EPO) em 20 pacientes em hemodiálise. A EPO foi utilizada por via intravenosa, em dose inicial de 75 UI/Kg/semana, administrada após cada sessäo de hemodiálise e aumentada mensalmente em 25 UI/Kg/semana até se atingir hemotócrito de 30 porcento. Foi administrrado ferro intravenoso quando a saturaçäo de transferrina estava abaixo de 20 porcento. Houve um aumento de hematócrito de 22,8 porcento. A dose de EPO utilizada no último mês de estudo foi de 127,5 mais ou menos 4,3 UI/KG/semana. O potássio e a albumina aumentaram significativamente em relaçäo ao início do tratamento. A eritropoietina foi eficaz e segura, possibilitando o uso de baixas doses do hormônio, quando associado à administraçäo regular de ferro.(au)