Abstract Introduction: Although it is the most common agent among the fungal causes of endocarditis, Candida albicans endocarditis is rare. Objective: To evaluate the efficacy of amphotericin B in the treatment of C. albicans endocarditis beyond a systematic review. Data search: Articles in English, Spanish and Portuguese, conducted in the following databases: MEDLINE, LILACS, IBECS and SciELO, in humans and published in the last 25 years. Study selection: Observational studies, clinical trials, and case series providing data on the amphotericin B use in patients with a C. albicans endocarditis diagnosis without age limitations. Data synthesis: From the initial search (n=79), 25 articles were fully evaluated, of which 19 were excluded for meeting one or more exclusion criteria, remaining five articles (two observational studies and three case series). Patients using amphotericin B demonstrated improvement in survival rates, and its main use was in association with the surgical method as well as with caspofungin association. Conclusion: Literature lacks evidence to conclude about efficacy and safety of amphotericin B in the treatment of fungal endocarditis. Randomized clinical trials are necessary to provide better evidence on the subject.

Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos órgãos. Objetivo: realizar a triagem do gene GLA em um grupo de pacientes com diagnóstico ecocardiográfico de cardiomiopatia hipertrófica (CMH). Métodos: estudo transversal realizado com pacientes com CMH em um hospital universitário. Pacientes com doença arterial coronariana e valvopatias foram excluídos. Foi realizada análise de mutação do gene GLA. Em indivíduos do sexo masculino, a análise foi realizada após evidência de baixa atividade de α-Gal A. Resultados: Foram incluídos 60 pacientes com diagnostico ecocardiográfico de CMH. A idade variou de 12 a 85 anos e 60% eram mulheres. O percentual médio de fibrose miocárdica na RM foi 10,7 ± 13,1% e a espessura ventricular média foi 18,7 ± 6,7 mm. Quatro pacientes tinham as seguintes mutações do GLA: c.967C>A (p.Pro323Thr), ainda não descrita na literatura; c.937G>T (p.Asp313Tyr); e c.352C>T (p.Arg118Cys). Todos os pacientes apresentavam níveis normais de liso-Gb3 e fibrose miocárdica não isquêmica na ressonância magnética; um paciente apresentou proteinúria; um paciente apresentou taquicardia ventricular. Conclusão: Neste estudo, a frequência de mutação no gene GLA em pacientes com CMH foi 6,7%. Uma nova mutação no exon 6 do gene GLA, c.967C>A (p.Pro323Thr), foi identificada. Pacientes com CMH podem ter mutações do GLA e a DF deve ser excluída. Os níveis plasmáticos de (liso-Gb3) não parecem ser suficientes para fazer um diagnóstico e biópsia de órgãos deve ser considerada.

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.

RESUMO INTRODUÇÃO: Transtornos de ansiedade e depressão (TAD) são os distúrbios psiquiátricos mais comuns no mundo. Dentre a população adulta atendida na atenção básica, estima-se que a depressão afete cerca de 14,3% desses indivíduos mundialmente, podendo este valor ir de 21,4% a 31% no Brasil. A ansiedade afeta até 33,7% da população durante sua vida. OBJETIVO: Estimar a prevalência de TAD em pacientes da atenção primária em um município do Nordeste brasileiro e associar sua ocorrência com fatores de risco cardiovasculares. MÉTODOS: Um estudo de coorte transversal com análise de prontuário de pacientes atendidos em unidades de saúde da família de Jaboatão dos Guararapes, Pernambuco. Foram incluídos pacientes ≥18 anos e acompanhados regularmente. Critérios de exclusão: história de trauma crânio encefálico, abuso de álcool e drogas, acidente vascular cerebral prévio, doenças ou medicações que mimetizem sintomas de TAD. Os indivíduos foram divididos em dois grupos, a depender da presença ou não de TAD, e os fatores de risco cardiovascular foram comparados entre os grupos. RESULTADOS: De um total de 1.030 indivíduos recrutados, 215 (20%) foram excluídos. O grupo não TAD apresentou mais história de infarto do miocárdio e etilismo. A prevalência de depressão foi de 10,3%, a de ansiedade foi de 27,1% e a associação entre os dois foi de 4,5%. Houve associação significativa entre TAD e hipertensão (OR = 2,11; IC95: 1,16-3,84; p=0,01), obesidade (OR = 4,47; IC95%: 1,74-11,46; p=0,002) e dislipidemia (OR = 3,88; IC95%: 1,81-8,3; p<0,001). CONCLUSÃO: TAD estão associados com maior risco de hipertensão arterial, obesidade e dislipidemia.

SUMMARY BACKGROUND: Depression and anxiety disorders (DAD) are the most prevalent mental health conditions worldwide. Among the adult population served in basic care, it is estimated that depression affects about 14.3% of these individuals worldwide, and between 21.4% and 31% in Brasil. Anxiety affects up to 33.7% of the population during their lifetimes. OBJECTIVES: estimate the prevalence proportions of DAD among patients in a municipality in Northeast Brasil and study the association between DAD and cardiovascular risk factors. METHODS: a cross-sectional study with the medical records of patients from primary care centers in Jaboatão dos Guararapes, Pernambuco. Patients aged ≥ 18 years and regularly followed-up were included. Exclusion criteria: a history of traumatic brain injury, alcohol or drug abuse, previous stroke, medical conditions or medications that mimic DAD symptoms. Subjects were divided into two groups depending on the presence or absence of DAD, and cardiovascular risk factors were compared between groups. RESULTS: A total of 1030 subjects were initially included, of whom 215 (20%) were excluded. No-DAD subjects had more history of myocardial infarction and alcoholism. The prevalence of depression was 10.3%, anxiety disorder was 27.1%, and mixed DAD represented 4.5%. There was a significant association between DAD and hypertension (OR = 2.11; 95%CI: 1.16 –3.84; p=0.01), obesity (OR = 4.47; 95%CI: 1.74 –11.46; p=0.002), and hyperlipidemia (OR = 3.88; 95%CI: 1.81-8.3; p<0.001). CONCLUSION: DAD were associated with an increased risk for arterial hypertension, obesity, and hyperlipidemia.