ObjectiveTo describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro).ResultsThree versions of the new instrument were developed, each for a different age group: children (age 8–12 years), adolescents (age 13–17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO—World Health Organization) and its facets apply to this patient population. However, other specific facets—particularly concerning clinical manifestations and the reality of the disease—were suggested, confirming the need for the development of a specific QoL instrument for MPS.Electronic supplementary materialThe online version of this article (10.1186/s13104-018-3157-4) contains supplementary material, which is available to authorized users.
SUMMARYNiemann-Pick disease (NPD) is a rare group of autosomal recessive disorders associated with intracellular deposition of sphingomyelin. NPD type B is a milder form, generally later in onset, with a good prognosis for survival into adulthood and usually with no neurological abnormalities. The authors describe the case of a 52-year-old man who presented with unexplained pancytopenia and splenomegaly. He was admitted to emergency splenectomy due to pathological splenic rupture. The histological findings showed diffuse histiocytosis, suggesting lysosomal storage disease. The NPD was confirmed when residual activity of acid sphingomyelinase in peripheral blood leucocytes and cultured skin fibroblasts was detected. Besides lipid abnormalities, the patient also had lipid interstitial pneumonia. There is no treatment for NPD. Management is based on surveillance and supportive care. The patient has reached the sixth decade of life with no symptoms and, despite the pneumonia and splenectomy, he still has a fairly healthy life. BACKGROUND
Objective: Bibliometrics is a group of statistical and mathematical methods employed to measure and analyze the quantity and the quality of scientific articles, books, and other forms of publications. The objective of the present study was to conduct a bibliometric analysis of the Jornal Brasileiro de Psiquiatria (JBP) by listing its 100 most highly cited articles in the scientific literature and identifying their main characteristics in terms of authorship and research topics and design. Methods: The 100 top-cited references in the JBP were identified through a search with Google Scholar. The main author, last author, corresponding author, the total number of authors, gender of the authors, year of publication, research institution, geographic origin, language, and the research design and subject of each reference were recorded and analyzed. Results: A marked increase in the number of citations in the last 15 years, a relatively balanced distribution of publications among the Brazilian states and research centers, absence of gender bias among authors, and a varied range of published topics suggest a good current editorial performance by the JBP. Relative lack of systematic reviews and longitudinal studies, dearth of articles published in the English language, and modest participation of foreign authors were points requiring improvement. Conclusion: The present study suggests that a survey of the 100 most cited articles in the JBP can provide a historical overview of the progress of this journal, as well as highlight the main obstacles, constraints, and challenges faced by its editors and authors.
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