Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts' perspectives

ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows: What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.

Assessment of neurogenic bowel dysfunction impact after spinal cord injury using the International Classification of Functioning, Disability and Health.

BACKGROUND: Bowel function is frequently compromised after spinal cord injury (SCI). Regardless of this crucial importance in patients' lives, there is still scarce literature on the Neurogenic Bowel Dysfunction (NBD) deleterious impact on SCI patient's lives and only few studies correlating NBD severity with quality of life (QoL). To our knowledge there are no studies assessing the impact of NBD on the context of ICF domains. AIM: To assess NBD after SCI using ICF domains and to assess its impact in QoL. DESIGN: Retrospective data analysis and cross-sectional phone survey. SETTING: Outpatient spinal cord injury setting. POPULATION: Portuguese adult spinal cord injury patients. METHODS: Retrospective analysis of demographic data, lesion characteristics and bowel management methods at last inpatient discharge. Cross-sectional phone survey assessing current bowel management methods, the Neurogenic Bowel Dysfunction Score and a Likert Scale questionnaire about the impact on ICF domains and QoL. RESULTS: Sixty-four patients answered the questionnaire. The majority was male (65.6%), mean age 56.6±15.6 years, AIS A lesion (39.1%), with a traumatic cause (71.9%). The main bowel management methods were contact laxatives, suppositories and osmotic laxatives. 50.1% of patients scored moderate or severe NBD. Considering ICF domains, the greatest impact was in personal and environmental factors, with 39.1% reporting impact in financial costs, 45.3% in need of assistance, 45.3% in emotional health and 46.9% in loss of privacy. There was a significant association between severity of NBD and negative impact on QoL (P<0.05). CONCLUSIONS: The study confirms the major impact of NBD on personal and environmental factors of ICF and on the quality of life of SCI population. CLINICAL REHABILITATION IMPACT: These findings confirm that it is relevant to identify the main ICF domains affected by NBD after SCI in order to address targeted interventions, working toward changes in health policies and psychosocial aspects.

Gastrointestinal cytomegalovirus disease in renal transplant recipients: a case series.

The purpose of this article was to report a series of 23 renal transplant recipients with histologically proven and immunohistochemically confirmed cytomegalovirus (CMV) lesions in the gastrointestinal tract (GIT) and to assess the risk factors associated with severe disease/mortality. CMV patients (n=23) were allocated into two groups: those who died (n=6) and those considered cured (n=17). Overall mortality rate was 26% (6/23). Initial symptoms suggestive of lower GIT involvement were observed in all death cases and in 35.3% of those cured (p=0.01). Enterorrhagia was seen in 83.3% of the patients who died. Death risk increased twofold (RR 2 [1.13-3.52], p=0.01) when symptoms of lower GIT involvement were initially observed and sixfold when enterrohagia was present (RR 6 [1.1-35.9], p=0.001). Among death cases, mean time at diagnosis was significantly more distant (2002±2.9×2008±1.6, p=0.04). The difference in mortality rates seen as service practices changed along the years demonstrates the importance of early diagnosis.

Sobrevida em hemodiálise no hospital das clínicas da faculdade de medicina de Botucatu Unesp: comparação entre a primeira e a segunda metades da década de 90 / Hemodialysis Survival at the Hospital das Clínicas da Faculdade de Medicina de Botucatu - Unesp: Comparison Between The First and Second Halves of the 1990Æs

Comparar a sobrevida em hemodiálise da primeira com a segunda metades da década de 90. Método: Foram avaliados 153 renais crônicos tratados exclusivamente por hemodiálise no Hospital das Clínicas da Faculdade de Medicina de Botucatu no período de março de 1990 a março de 2000, comparando a sobrevida entre a primeira (Grupo 1; n= 75) e a segunda (Grupo 2; n= 78) metades da década, sendo que a primeira metade estava claramente relacionada à menor utilização de recursos tecnológicos como diálises em máquinas de tanque, banho contendo acetato como tampão e tratamento de água feito por deionizador. Na segunda metade, a maioria das máquinas era de proporção com ultrafiltração controlada, dialisato contendo bicarbonato e tratamento da água por osmose reversa. Resultados: A sobrevida global foi de 77% em um ano e de 58% em 5 anos. Esses valores foram de 78% e 57% para o Grupo 1 e 79% e 61% para o Grupo 2. Não houve diferença estatisticamentesignificante quanto à sobrevida entre as duas metades da década, mesmo quando corrigida para os principais fatores de risco: idade e presença de diabetes. Conclusões: Não pudemos observar melhora na sobrevida apesar da incorporação de novas tecnologias, ocorrida principalmente na segunda metade da década, o que não exclui que a morbidade pudesse ter melhorado.(au)