Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was 7 years (age range: 7 months to 47 years), and 63% were females. The most common phenotypic features in all population groups included broad thumbs and/or halluces in 97%, convex nasal ridge in 94%, and arched eyebrows in 92%. Face images of 87 individuals with RSTS (age range: 2 months to 47 years) were collected for evaluation using facial analysis technology. We compared images from 82 individuals with RSTS against 82 age- and sex-matched controls and obtained an area under the receiver operating characteristic curve (AUC) of 0.99 (p < .001), demonstrating excellent discrimination efficacy. The discrimination was, however, poor in the African group (AUC: 0.79; p = .145). Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP variants (AUC: 0.93). This study shows that clinical examination combined with facial analysis technology may enable earlier and improved diagnosis of RSTS in diverse populations.

Cornelia de Lange syndrome in diverse populations.

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years.

OBJECTIVE: To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with Williams-Beuren Syndrome (WBS). METHODS: This is a multicenter, retrospective, and longitudinal study, data were collected from the medical records of boys and girls with a confirmed diagnosis of WBS in three large university centers in the state of Sao Paulo, Brazil. Growth charts stratified by gender and age in years were developed using LMSchartmaker Pro software. The LMS (Lambda Mu Sigma) method was used to model the charts . The quality of the settings was checked by worm plots. RESULTS: The first Brazilian growth charts for weight-for-age, height-for-age, and BMI-for-age stratified by gender were constructed for WBS patients aged 2 to 18 years. CONCLUSION: The growth charts developed in this study can help to guide family members and to improve the health care offered by health professionals.

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years

Abstract Objective: To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with Williams-Beuren Syndrome (WBS). Methods: This is a multicenter, retrospective, and longitudinal study, data were collected from the medical records of boys and girls with a confirmed diagnosis of WBS in three large university centers in the state of Sao Paulo, Brazil. Growth charts stratified by gender and age in years were developed using LMSchartmaker Pro software. The LMS (Lambda Mu Sigma) method was used to model the charts. The quality of the settings was checked by worm plots. Results: The first Brazilian growth charts for weight-for-age, height-for-age, and BMI-for-age stratified by gender were constructed for WBS patients aged 2 to 18 years. Conclusion: The growth charts developed in this study can help to guide family members and to improve the health care offered by health professionals.

O papel da dieta na etiologia da endometriose / The role of diet in the etiology of endometriosis

Introdução: A endometriose é uma condição inflamatória crônica e hormônio-dependente. Fatores genéticos, imunológicos e ambientais podem estar implicados na patogênese da endometriose. Nesse sentido, esse estudo tem por objetivo descrever o papel da dieta na etiologia da endometriose. Método: Foi realizada uma busca eletrônica no PubMed, no período entre 1 de janeiro de 2012 e 31 de dezembro de 2016, empregando os termos "endometriosis and diet" e "endometriosis and food". Os critérios de inclusão foram: relação direta com o tema, publicação no idioma inglês, disponibilidade da versão completa do artigo e artigo original/pesquisa. Foram selecionadas 12 publicações que cumpriram os critérios previamente estabelecidos. Resultados: Houve predomínio de estudos que avaliaram a contribuição de ácidos graxos poli-insaturados para o desenvolvimento da endometriose (6/12), seguido pelas vitaminas B, C, D, E, cálcio e magnésio (4/12) e apenas dois artigos investigaram xantohumol e café/cafeína, sendo um artigo cada. A maioria desses compostos atuou na redução das lesões endometriais, uma vez que exibiram efeitos anti-inflamatório e antiangiogênico e são antioxidantes. No entanto, as pesquisas foram conduzidas em modelos animais e, apesar dos achados promissores, é necessário cautela ao extrapolar os resultados para o estudo da endometriose em humanos. Conclusões: Foi demonstrado um papel significativo da dieta no desenvolvimento e progressão da endometriose, sendo que a maioria exibe efeito protetor. Nesse sentido, é pertinente, adequado e justificável o acompanhamento nutricional às pacientes portadoras de endometriose.

Introduction: Endometriosis is a chronic inflammatory condition and hormone dependent. Genetic, immunological, and environmental factors may be implicated in the pathogenesis of endometriosis. Thus, this study aims to describe the role of diet in the etiology of endometriosis. Methods: An electronic search was conducted in PubMed in the period from January 1, 2012 to December 31, 2016, using the terms "endometriosis and diet" and "endometriosis and food." Inclusion criteria were directly related to the subject, published in English, availability of the full version of the article and original/research article. We selected 12 publications that met the criteria previously established. Results: There was a predominance of studies have evaluated the contribution of polyunsaturated fatty acids for the development of endometriosis (6/12) followed by vitamins B, C, D, E, calcium, and magnesium (4/12) and only two articles investigated xantohumol and coffee/caffeine, one article each. Most of these compounds reduced endometrial lesions once they exhibit effects anti-inflammatory, anti-angiogenic and are antioxidants. However, studies were conducted in animal models and despite the promising findings, it is necessary to exercise caution when extrapolating the results for the study of endometriosis in humans. Conclusions: A significant role of diet in the development and progression of endometriosis was demonstrated, most of which exhibits a protective effect. In this sense, it is relevant, appropriate, and justifiable nutritional monitoring of patients with endometriosis.