[Use of murine models for the study of obstructive sleep apnea syndrome in Down syndrome]. / Utilisation des modèles murins pour l'étude du syndrome d'apnées obstructives du sommeil dans le syndrome de Down.

Down syndrome (DS), or trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21, leading to various characteristic physical features as well as developmental and cognitive delays. Obstructive sleep apnea syndrome (OSAS) is a common disorder in both adult and pediatric patients with DS. Several characteristics of DS may contribute to the development or worsening of OSAS. Numerous murine models of DS exist. A number of studies have explored apneas and the risk of upper airway obstruction in these models, but up until now, only in adulthood.

Alimentación en estudiantes con discapacidad / Nutrition in students with disability / Alimento para estudantes com deficiência / Alimentation chez les étudiants ayant un handicap

Resumen Objetivo: Exponer la importancia de una alimentación adecuada en estudiantes con algún tipo de discapacidad. Material y métodos: En el artículo, se muestra la recopilación de la información bibliográfica en las bases de datos PudMed, SciELO, Infomed, PAHO y los motores de búsqueda Google Scholar, colocando palabras claves para la búsqueda de artículos originales, tesis, artículos de revisión bibliográfica y revistas de elevado índice de citación, publicados desde 1994 a 2019, en español o inglés. Resultados: Se seleccionaron 29 artículos y publicaciones de la OMS, de la CONAFE y del INEGI; de estos, se recolectó información referente a las barreras que presentan las personas con capacidades diferentes (PCD) en torno a su alimentación diaria y los efectos a la salud que esto conlleva. También la bibliografía hace mención del incremento en los últimos años de personas con discapacidad, de las circunstancias de vulnerabilidad y de las situaciones que pueden ocasionar un mayor riesgo de morbilidad. Conclusión: Debido a esto es importante conocer las recomendaciones más actuales en torno a la alimentación de estos individuos, a pesar de que sus necesidades calóricas varían dependiendo de la gravedad y el grado de discapacidad.

Abstract Objective: To establish the importance of an adequate nutrition in students with certain disability. Materials and Methods: This article presents a literature review within the databases PudMed, SciELO, Infomed, PAHO and search engines like Google Scholar, by typing key words in order to find original articles, thesis, literature review articles, and high-citation level journals, published from 1994 to 2019, in both Spanish and English. Results: A total of 29 articles and publications from the WHO, CONAFE (National Council for Educational Development) and INEGI (National Institute of Statistics and Geography) were chosen; of these, information was collected regarding the barriers that people with disabilities (PCD) face related to their daily diet and the health effects this implies was collected. In addition, the literature mentions the increase of people with disability in the last years, vulnerability circumstances and situations that can cause a higher risk of morbidity. Conclusions: It is important to know the current recommendations about the diet of these individuals, even though their calorie needs vary depending on the severity and degree of disability.

Resumo Objetivo: Expor a importância de uma dieta adequada em estudantes com algum tipo de deficiência. Material e métodos: O artigo mostra a compilação das informações bibliográficas nos bancos de dados PudMed, SciELO, Infomed, OPAS e motores de busca Google Sholar, colocando palavras-chave para a busca de artigos originais, teses, artigos de Revisão bibliográfica e revistas com alto índice de citações, publicadas de 1994 a 2019, em espanhol ou inglês. Resultados: foram selecionados 29 artigos e publicações da OMS, CONAFE e INEGI; Destes, foram coletadas informações sobre as barreiras apresentadas pelas pessoas com deficiência (PCD) em torno de sua dieta diária e os efeitos à saúde que isso implica. A bibliografia também menciona o aumento nos últimos anos de pessoas com deficiência, as circunstâncias de vulnerabilidade e as situações que podem causar maior risco de morbidade. Conclusão: Por isso, é importante conhecer as recomendações mais atuais sobre a dieta desses indivíduos, apesar de suas necessidades calóricas variarem, dependendo da gravidade e do grau de incapacidade.

Résumé Objectif : Exposer l'importance d'une alimentation adéquate chez les étudiants ayant un handicap quelconque. Matériel et méthodes : une recherche d'information bibliographique a été effectuée dans les bases de données PudMed, SciELO, Infomed, PAHO et avec le moteur de recherche Google Scholar. Des mots-clés ont été utilisés pour trouver des articles originaux et des articles de révision bibliographique dans des revues ayant un indice de citation élevé, ainsi que des thèses, le tout publié de 1994 à 2019, en espagnol ou en anglais. Résultats : 29 articles et publications de l'OMS, de la CONAFE et de l'INEGI ont été sélectionnés pour recueillir des informations sur les obstacles présentés par les personnes ayant des capacités différentes (PCD) en ce qui concerne leur alimentation quotidienne et les effets sur la santé que cela implique. En outre, la littérature mentionne l'augmentation ces dernières années du nombre de personnes ayant un handicap, des circonstances de vulnérabilité et des situations qui peuvent entraîner un risque accru de morbidité. Conclusion : En conséquence, il est important de connaître les recommandations les plus récentes concernant l'alimentation de ces personnes, même si leurs besoins caloriques varient en fonction du type de handicap et de sa gravité.

Objective evaluation of corneal and lens densitometry in children with Down syndrome.

PURPOSE: The goal of this study was to compare anterior segment topographic measurements and densitometry measurements of the cornea and lens of patients with Down syndrome (DS) with those of healthy individuals. METHODS: Forty patients with DS (study group) and 43 healthy subjects (control group) were enrolled in this prospective study. Topographic measurements, including central corneal thickness (CCT), corneal volume (CV), anterior chamber depth, corneal densitometry (CD) and lens densitometry (LD) values, of the right eye of each participant were obtained. RESULTS: The CCT and CV values were significantly lower in the study group compared to those in the control group. The mean LD-horizontal, LD-vertical, LD-areal, three dimensional (3D), peak and CD values were higher in the patients with DS (5.90±0.7, 6.01±0.7, 5.61±0.54, 9.70±2.1, 20.94±7.53 and 15.61±1.34, respectively) than in the healthy control subjects (5.72±0.65, 5.83±0.60, 5.56±0.75, 8.63±1.83, 17.29±5.40 and 14.3±1.03, respectively) (LD-horizontal P=0.144, LD-vertical P=0.184, LD-areal P=0.743, 3D P=0.033, peak P=0.029 and CD P=0.001). CONCLUSION: The DS patients had higher CD and LD values. Additionally, the mean CCT and CV values in the DS group were less than those in the control group.

[Assessment of screening for Down syndrome in Martinique from 2011 to 2013: An island location favoured]. / Évaluation du dépistage de la trisomie 21 en Martinique de 2011 à 2013 : une situation insulaire privilégiée.

OBJECTIVES: The aim of this study is to evaluate the screening for trisomy 21 (T21) between 2011 and 2013 on Martinique French West Indies after the decree of 23 June 2009. MATERIALS AND METHODS: Were used the prenatal data provided by accredited laboratories and the data from the Registry of Congenital French West Indies (REMALAN). RESULTS: A total of 85.9 % of patients underwent screening: 60.5 % on a combined calculation of risk (CRC), 14.6 % on a sequential calculation of risk (CRS) and 10.8 % on serum markers 2nd trimester (MST2). Overall 5.4 % of the patients were placed in a risk group. During this period, 47 trisomy 21 were identified by the REMALAN which 38 (80.1 %) were detected prenatally: 24 of CRC, 3 on MST2 and 11 on signs of ultrasound at the 1st and 2nd trimester. The sensitivity of the CRC was 88 % for a false positive rate of 3.87 %. The overall sensitivity of screening (CRC, CRS and MST2) was 87 % for a false positive rate of 5.21 %. CONCLUSION: These data show that the coverage rate in Martinique is satisfactory and the screening fir Down syndrome meet expectations.

[Trisomy 21 and breast cancer: A genetic abnormality which protects against breast cancer?]. / Cancer du sein et trisomie 21 : une anomalie génétique qui protège contre le cancer du sein ?

INTRODUCTION: Trisomy 21 (T21) is the most common chromosomal abnormality and one of the main causes of intellectual disability. The tumor profile of T21 patients is characterized by the low frequency of solid tumors including breast cancer. METHODS: The objective of this work was to analyze the literature to find possible clues for the low frequency of breast cancer in T21 persons with a focus on one hand to the various risks and protective factors against breast cancer for women T21, and on the other hand to changes in the expression of different genes located on chromosome 21. RESULTS: T21 women have hormonal and societal risk factors for breast cancer: frequent nulliparity, lack of breastfeeding, physical inactivity and high body mass index. The age of menopause, earlier in T21 women, has a modest protective effect against breast cancer. The low rate of breast tumors in T21 women is probably mainly linked to the reduced life expectancy compared to the general population (risk of death before the age of onset of the majority of breast cancers) and the presence of a third chromosome 21, characterizing the disease. It might lead to the increased expression of a number of genes contributing directly or undirectly to tumor suppression, decreased tumor angiogenesis and increased cell apoptosis. Moreover, changes in the mammary stroma of persons T21 could have an inhibitory role on the development of breast tumors. CONCLUSION: The low frequency of breast cancers for T21 patients may not only be explained by hormonal and societal factors, but also by genetic mechanisms which could constitute an interesting axis of research in breast cancer.

Hipotiroidismo primario en pacientes con síndrome de Down / Primary hypothyroidism in patients with Down syndrome

Introducción: el hipotiroidismo es el cuadro clínico resultante de una disminución de la actividad biológica de las hormonas tiroideas ocasionada por un déficit en la producción o utilización de estas. Su asociación con el síndrome de Down ha sido previamente descrita por otros autores, pero hay pocos estudios sobre la frecuencia con que se relacionan ambas entidades en Cuba, y la forma clínica en que se presenta el hipotiroidismo en estos pacientes.Objetivo: evaluar la asociación del síndrome de Down con el hipotiroidismo en pacientes atendidos en nuestro servicio en el período comprendido de enero de 2010 a diciembre del mismo año.Métodos: se estudiaron 24 pacientes con diagnóstico de síndrome de Down, entre 3 y 7 años de edad, en la consulta de Endocrinología del Hospital Pediátrico William Soler .Resultados: se encontró que en el 100 por ciento de los pacientes estudiados (24) se presentaban cifras elevadas de hormona tirotropa hipofisiaria, retraso de la edad ósea (18 para un 75 por ciento), y baja talla < 3 percentil (4 para un 16,6 por ciento).Conclusiones: el hipotiroidismo es una entidad frecuentemente asociada con el síndrome de Down, por lo que la detección y el tratamiento precoz en estos niños es de vital importancia para mejorar su desarrollo cognitivo y crecimiento integral(AU)

Introduction: hypothyroidism is the resulting clinical picture of a reduction in the biological activity of thyroid hormones due to their low production or little use. Its association with Down syndrome has been previously described by other authors; however, few studies on the frequency of association of both entities in Cuba and on the clinical form of hypothyroidism in these patients have been conducted. Objectives: to evaluate the association of Down syndrome and hypothyroidism in patients seen at our service from January to December 2011. Methods: twenty four patients with Down syndrome, aged 3 to 7 years, were attended at the endocrinology service of William Soler pediatric hospital. Results: it was found that all these patients exhibited high values of hypophysial thyrotrop hormone, 18 had osseous age retardation (75 percent) and 4 showed low size of less than 3 percentiles (16.6 percent). Conclusions: hypothyroidism is a frequent disease associated with Down syndrome, so its detection and early treatment in these children is of vital importance to improve their cognitive development and integral growth(AU)