Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy

<div><p>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 (<i>RN</i>), 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 <i>RN</i> state. A questionnaire was applied to 199 nurses working in the <i>Hospital Regional Mariano Coelho</i>—<i>HRMC</i> (Regional Hospital Mariano Coelho), in <i>Currais Novos–RN</i>, and in the <i>Hospital Universitário Onofre Lopes</i>—<i>HUOL</i> (University Hospital Onofre Lopes), in <i>Natal–RN</i>. 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 <i>HRMC</i> and <i>HUOL</i> 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.</p></div

Physical appearance of type 1 BSCL patient from <i>RN</i>.

<p>(A) Anterior view of a 24-year-old Brazilian female with type 1 BSCL due to <i>A712T</i> mutation in the <i>AGPAT2</i> gene. (B) Anterior view of face showing acromegaloid facies, atrophic cheeks, and prognathism. (C) Anterior view of right arm and abdomen showing phlebomegaly and umbilical protusion, respectively, as previously described by Lima and co-workers [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0197784#pone.0197784.ref006" target="_blank">6</a>,<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0197784#pone.0197784.ref009" target="_blank">9</a>].</p

The knowledge of nurses and technicians from <i>HUOL</i> about Berardinelli-Seip Congenital Lipodystrophy (BSCL).

<p>The knowledge of nurses and technicians from <i>HUOL</i> about Berardinelli-Seip Congenital Lipodystrophy (BSCL).</p

Map of the <i>Rio Grande do Norte</i> state.

<p>Geolocalization of <i>Natal</i> (1) and <i>Currais Novos</i> (2), where <i>HUOL</i> and <i>HRMC</i> hospitals are located, respectively. The map was created using the TabWin Program (DATASUS/<i>Ministério da Saúde</i>–Brazilian Ministry of Health).</p

Physical appearance of type 2 BSCL patient from <i>RN</i>.

<p>(A) A view of a 33-year-old Brazilian female with type 2 BSCL due to <i>325dupA</i> mutation in <i>BSCL2</i> gene. (B) Anterior view of face showing acromegaloid facies, atrophic cheeks, and prognathism. (C) Anterior view of right arm and abdomen showing phlebomegaly and umbilical protusion, respectively, as previously described by Lima and co-workers [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0197784#pone.0197784.ref006" target="_blank">6</a>,<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0197784#pone.0197784.ref009" target="_blank">9</a>].</p

The knowledge of nurse professionals from HUOL and HRMC about Berardinelli-Seip Congenital Lipodystrophy (BSCL).

<p>The knowledge of nurse professionals from HUOL and HRMC about Berardinelli-Seip Congenital Lipodystrophy (BSCL).</p