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      Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy

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          Abstract

          Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease characterized by the almost complete absence of adipose tissue. Due to a strong founder effect that resulted in a higher prevalence of BSCL in Rio Grande do Norte ( RN), a state in northeastern Brazil, it has been essential that health professionals develop knowledge about this disease. Nurses are often the first point of contact with patients during health care assistance. The purpose of this study was to investigate the knowledge of these professionals about BSCL in two main hospitals in RN state. A questionnaire was applied to 199 nurses working in the Hospital Regional Mariano CoelhoHRMC (Regional Hospital Mariano Coelho), in Currais Novos–RN, and in the Hospital Universitário Onofre LopesHUOL (University Hospital Onofre Lopes), in Natal–RN. This study showed that most nursing professionals do not know about the disease, although they have already received patients with BSCL in those hospitals. The nurses from HRMC and HUOL lacked knowledge of BSCL and the healthcare of these patients requires immediate improvement. Significant efforts are required to close the gap between current and needed practice patterns.

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          The relative benefits of endurance and strength training on the metabolic factors and muscle function of people with type 2 diabetes mellitus.

          To compare the effects of a 4-month strength training (ST) versus aerobic endurance training (ET) program on metabolic control, muscle strength, and cardiovascular endurance in subjects with type 2 diabetes mellitus (T2D). Randomized controlled trial. Large public tertiary hospital. Twenty-two T2D participants (11 men, 11 women; mean age +/- standard error, 56.2+/-1.1 y; diabetes duration, 8.8+/-3.5 y) were randomized into a 4-month ST program and 17 T2D participants (9 men, 8 women; mean age, 57.9+/-1.4 y; diabetes duration, 9.2+/-1.7 y) into a 4-month ET program. ST (up to 6 sets per muscle group per week) and ET (with an intensity of maximal oxygen consumption of 60% and a volume beginning at 15 min and advancing to a maximum of 30 min 3x/wk) for 4 months. Laboratory tests included determinations of blood glucose, glycosylated hemoglobin (Hb A1c), insulin, and lipid assays. A significant decline in Hb A1c was only observed in the ST group (8.3%+/-1.7% to 7.1%+/-0.2%, P=.001). Blood glucose (204+/-16 mg/dL to 147+/-8 mg/dL, P<.001) and insulin resistance (9.11+/-1.51 to 7.15+/-1.15, P=.04) improved significantly in the ST group, whereas no significant changes were observed in the ET group. Baseline levels of total cholesterol (207+/-8 mg/dL to 184+/-7 mg/dL, P<.001), low-density lipoprotein cholesterol (120+/-8 mg/dL to 106+/-8 mg/dL, P=.001), and triglyceride levels (229+/-25 mg/dL to 150+/-15 mg/dL, P=.001) were significantly reduced and high-density lipoprotein cholesterol (43+/-3 mg/dL to 48+/-2 mg/dL, P=.004) was significantly increased in the ST group; in contrast, no such changes were seen in the ET group. ST was more effective than ET in improving glycemic control. With the added advantage of an improved lipid profile, we conclude that ST may play an important role in the treatment of T2D.
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            Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

            Generalised lipodystrophy of the Berardinelli-Seip type (BSCL) is a rare autosomal recessive human disorder with severe adverse metabolic consequences. A gene on chromosome 9 (BSCL1) has recently been identified, predominantly in African-American families. More recently, mutations in a previously undescribed gene of unknown function (BSCL2) on chromosome 11, termed seipin, have been found to be responsible for this disorder in a number of European and Middle Eastern families. We have studied the genotype/phenotype relationships in 70 affected subjects from 44 apparently unrelated pedigrees of diverse ethnic origin. In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX). BSCL2 appears to be a more severe disorder than BSCL1 with a higher incidence of premature death and a lower prevalence of partial and/or delayed onset of lipodystrophy. Notably, subjects with BSCL2 had a significantly higher prevalence of intellectual impairment than those with BSCL1 or BSCLX (p<0.0001, OR 17.0, CI 3.6 to 79.0). The higher prevalence of intellectual impairment and the increased risk of premature death in BSCL2 compared to BSCL1 emphasise the importance of molecular diagnosis of this syndrome and have clear implications for genetic counselling.
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              An undiagnosed endocrinometabolic syndrome: report of 2 cases.

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                Author and article information

                Contributors
                Role: Data curationRole: Formal analysisRole: MethodologyRole: Writing – original draft
                Role: Data curationRole: Methodology
                Role: Formal analysisRole: InvestigationRole: ValidationRole: Writing – original draft
                Role: Formal analysisRole: MethodologyRole: Writing – original draft
                Role: Formal analysisRole: MethodologyRole: Writing – original draft
                Role: Data curationRole: Methodology
                Role: Formal analysisRole: MethodologyRole: ValidationRole: Writing – original draft
                Role: Data curationRole: Formal analysisRole: MethodologyRole: Project administrationRole: Writing – original draft
                Role: Editor
                Journal
                PLoS One
                PLoS ONE
                plos
                plosone
                PLoS ONE
                Public Library of Science (San Francisco, CA USA )
                1932-6203
                4 June 2018
                2018
                : 13
                : 6
                : e0197784
                Affiliations
                [1 ] Faculdade de Ciências da Saúde do Trairi, Universidade Federal do Rio Grande do Norte, Santa Cruz, RN, Brazil
                [2 ] Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil
                [3 ] Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes (HUOL)/UFRN, Natal, RN, Brazil
                Chuo University, JAPAN
                Author notes

                Competing Interests: The authors have declared that no competing interests exist.

                Author information
                http://orcid.org/0000-0003-1207-830X
                http://orcid.org/0000-0002-8501-5521
                Article
                PONE-D-18-06337
                10.1371/journal.pone.0197784
                5986131
                29864145
                531cca71-aea3-42e2-a55b-3d10d36ac874
                © 2018 Cândido Dantas et al

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 27 February 2018
                : 8 May 2018
                Page count
                Figures: 4, Tables: 4, Pages: 14
                Funding
                Funded by: funder-id http://dx.doi.org/10.13039/501100008532, Universidade Federal do Rio Grande do Norte;
                Award ID: PIK6980-2011 and PVL11978-2015
                Award Recipient :
                Funded by: funder-id http://dx.doi.org/10.13039/501100008532, Universidade Federal do Rio Grande do Norte;
                Award ID: PIK6980-2011 and PVL11978-2015
                Award Recipient :
                Funded by: funder-id http://dx.doi.org/10.13039/501100008532, Universidade Federal do Rio Grande do Norte;
                Award ID: PIK6980-2011 and PVL11978-2015
                Award Recipient :
                JTAMC obtained funding for individual undergraduate scientific training for the students LBAM, VKCD and ASCS. These students participated in the research project, titled "Epidemiologic and Genetic Profile of Berardinelli-Seip Syndrome" (UFRN registration numbers: PIK6980-2011 and PVL11978-2015). The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
                Categories
                Research Article
                People and Places
                Population Groupings
                Professions
                Medical Personnel
                Nurses
                Medicine and Health Sciences
                Health Care
                Health Care Providers
                Nurses
                Science Policy
                Science and Technology Workforce
                Careers in Research
                Technicians
                People and Places
                Population Groupings
                Professions
                Technicians
                Medicine and Health Sciences
                Diagnostic Medicine
                Signs and Symptoms
                Lipodystrophy
                Medicine and Health Sciences
                Pathology and Laboratory Medicine
                Signs and Symptoms
                Lipodystrophy
                Medicine and Health Sciences
                Health Care
                Health Care Providers
                Allied Health Care Professionals
                Biology and Life Sciences
                Genetics
                Human Genetics
                People and places
                Geographical locations
                South America
                Brazil
                Biology and Life Sciences
                Genetics
                Genetics of Disease
                Biology and Life Sciences
                Genetics
                Mutation
                Custom metadata
                All relevant data are within the paper and its Supporting Information files.

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