Tricho-dento-osseous syndrome: a brief review for dentistry

Introduction: Tricho-dento-osseous syndrome is a ultra-rare ectodermal dysplasia related to genetic alterations in the DLX3 gene of interest to the health sciences due to its clinical manifestations. Aim: To synthesize the scientific evidence about tricho-dento-osseous syndrome, especially for dentistry. Methods: A bibliographic search was performed in the MEDLINE / PubMed, Web of Science and Scopus databases. A search strategy with descriptors was applied to all databases mentioned to reach scientific articles. The articles reached in all databases had their titles and abstracts read in search of adaptation to the proposed objective. There was no restriction on the year of publication, country or language. Literature review: Patients diagnosed with this syndrome have dental enamel defects and severe taurodontism, especially in the permanently lower first molars. In addition to these signs, other manifestations may be associated, such as curly hair, increased bone density and changes in craniofacial bones. The diagnosis of tricho-dento-osseous syndrome can be challenging due to the heterogeneity and wide phenotypic variation presented by patients with DLX3 mutations, since this gene is associated with several functions, especially related to cell differentiation and biomineralization. In addition, it is necessary to consider that other dental anomalies may be confused with tricho-dento-osseous syndrome, especially cases of imperfect amelogenesis associated with taurodontism. Conclusion: For dentistry, oral manifestations caused by this syndrome become relevant for diagnostic and therapeutic purposes, although there are no clinical protocols for dental management of this patients

Síndrome trico-dento-óssea: uma breve revisão para odontologia

Introduction: Tricho-dento-osseous syndrome is a ultra-rare ectodermal dysplasia related to genetic alterations in the DLX3 gene of interest to the health sciences due to its clinical manifestations. Aim: To synthesize the scientific evidence about tricho-dento-osseous syndrome, especially for dentistry. Methods: A bibliographic search was performed in the MEDLINE / PubMed, Web of Science and Scopus databases. A search strategy with descriptors was applied to all databases mentioned to reach scientific articles. The articles reached in all databases had their titles and abstracts read in search of adaptation to the proposed objective. There was no restriction on the year of publication, country or language. Literature review: Patients diagnosed with this syndrome have dental enamel defects and severe taurodontism, especially in the permanently lower first molars. In addition to these signs, other manifestations may be associated, such as curly hair, increased bone density and changes in craniofacial bones. The diagnosis of tricho-dento-osseous syndrome can be challenging due to the heterogeneity and wide phenotypic variation presented by patients with DLX3 mutations, since this gene is associated with several functions, especially related to cell differentiation and biomineralization. In addition, it is necessary to consider that other dental anomalies may be confused with tricho-dento-osseous syndrome, especially cases of imperfect amelogenesis associated with taurodontism. Conclusion: For dentistry, oral manifestations caused by this syndrome become relevant for diagnostic and therapeutic purposes, although there are no clinical protocols for dental management of this patients.Introdução: A síndrome trico-dento-óssea é uma displasia ectodérmica ultra-rara relacionada a alterações genéticas no gene DLX3 de interesse para as ciências da saúde devido à suas manifestações clínicas. Objetivo: Sintetizar as evidências científicas sobre a síndrome trico-dento-óssea, especialmente para odontologia. Materiais e métodos: Uma pesquisa bibliográfica foi realizada nas bases de dados MEDLINE/PubMed, Web of Science e Scopus. Uma estratégia de busca com descritores foi aplicada em todas as bases de dados mencionadas para alcançar os artigos científicos. Os artigos alcançados em todas as bases de dados tiveram seus títulos e resumos lidos em busca da adequação ao objetivo proposto. Não houve restrição quanto ao ano de publicação, país ou idioma. Revisão de literatura: Os pacientes diagnosticados com essa síndrome apresentam defeitos no esmalte dentário e taurodontismo severo, principalmente nos primeiros molares permanentemente inferiores. Além desses sinais, outras manifestações podem estar assoc adas, como cabelos crespos, aumento da densidade óssea e alterações nos ossos craniofaciais. O diagnóstico da síndrome tricodento-óssea pode ser desafiador devido à heterogeneidade e ampla variação fenotípica apresentada pelos pacientes com mutações em DLX3, uma vez que esse gene está associado a várias funções, principalmente relacionadas à diferenciação e biomineralização celular. Além disso, é necessário considerar que outras anomalias dentárias podem ser confundidas com a síndrome trico-dento-óssea, principalmente nos casos de amelogênese imperfeita associada ao taurodontismo. Conclusão: Para a odontologia, as manifestações orais causadas por essa síndrome tornam-se relevantes para fins diagnósticos e terapêuticos, embora não existam protocolos clínicos para o tratamento odontológico específico destes pacientes

Exploring Seipin: From Biochemistry to Bioinformatics Predictions

Seipin is a nonenzymatic protein encoded by the BSCL2 gene. It is involved in lipodystrophy and seipinopathy diseases. Named in 2001, all seipin functions are still far from being understood. Therefore, we reviewed much of the research, trying to find a pattern that could explain commonly observed features of seipin expression disorders. Likewise, this review shows how this protein seems to have tissue-specific functions. In an integrative view, we conclude by proposing a theoretical model to explain how seipin might be involved in the triacylglycerol synthesis pathway

High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil

Abstract Background Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN. Methods A descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence. The patients’ socio-demographic characteristics and geolocalization were analyzed. Results We estimated a total of 103 BSCL cases in RN, resulting in a prevalence of 3.23 per 100,000 people. The Central Potiguar mesoregion, Seridó territory, Carnaúba dos Dantas and Timbaúba dos Batistas municipalities had a much higher prevalence of BSCL, with 20.56, 20.66, 498.05 and 217.85 per 100,000 people, respectively. Conclusions Together, our results showed that BSCL is highly prevalent in RN and confirmed that our state has one of the highest prevalences of this lipodystrophy worldwide. More studies are still needed to better estimate the prevalence and incidence of BSCL in RN as well as in other states in Brazil. Trial registration Study Number 31809314.0.0000.556

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

Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects

Abstract Background Berardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Although cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. This study aimed to evaluate RMS in BSCL subjects compared with healthy subjects. Methods Eleven individuals with BSCL and 11 healthy subjects matched for age and gender were included in this study. The Maximum Inspiratory Pressure (MIP), Maximum Expiratory Pressure (MEP), and Peripheral Muscle Strength (PMS) were measured for three consecutive years. BSCL subjects were compared to healthy individuals for MIP, MEP, and PMS. Correlations between PMS and MIP were also analyzed. The genetic diagnosis was performed, and sociodemographic and anthropometric data were also collected. Results BSCL subjects showed significantly lower values for MIP and MEP (p <  0.0001 and p = 0.0002, respectively) in comparison to healthy subjects, but no changes in handgrip strength (p = 0.15). Additionally, we did not observe changes in MIP, MEP, and PMS two years after the first analysis, showing maintenance of respiratory dysfunction in BSCL subjects (p = 0.05; p = 0.45; p = 0.99). PMS and MIP were not correlated in these subjects (r = 0.56; p = 0.18). Conclusion BSCL subjects showed lower respiratory muscle strength when compared with healthy subjects; however, PMS was not altered. These findings were maintained at similar levels during the two years of evaluation. Our data reveal the first association of BSCL with the development of respiratory muscle weakness

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

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