Cirugía plástica facial en niños con síndrome de Down / Facial Plastic Surgery in Children with Down Syndrome

Introducción: El síndrome de Down comprende diversos grados de retraso mental y un número de rasgos característicos en su facies. Debido a que estos pacientes presentan problemas en la vida social, laboral y educacional se han buscado soluciones que hagan de estos niños, individuos socialmente útiles. Este artículo muestra los resultados obtenidos en 22 pacientes con este síndrome que fueron tratados quirúrgicamente para corregir sus estigmas faciales. Objetivo: Demostrar los cambios funcionales y ventajas estéticas que se obtienen con la cirugía plástica facial en el paciente con síndrome de Down. Métodos: Se escogieron 22 pacientes con síndrome de Down de 3 a 14 años de edad en el período comprendido de 1986 a enero 2019. Se incluyeron los 15 primeros casos atendidos en el Hospital Pediátrico Docente William Soler en el Servicio de Cirugía Plástica y posteriormente en otros centros nacionales de salud. Los procederes quirúrgicos realizados para la corrección de los estigmas faciales fueron: glosectomía parcial, cantoplastia lateral, cantoplastia media y otoplastia. Resultados: Los cambios estéticos y funcionales fueron favorables, lo que mejoró la apariencia y eliminó los rasgos no atractivos. Se obtuvieron cambios positivos en el lenguaje y la respiración. La glosectomía y cantoplastia se realizó en el 100 por ciento de los casos. Conclusiones: Todos los pacientes operados atenuaron sus estigmas faciales, mientras que se reportaron beneficios respiratorios y mejoría en la esfera del lenguaje. El grado de satisfacción de los padres fue bueno(AU)

Introduction: Down syndrome comprises varying degrees of mental retardation and a number of characteristic facial features. Because these patients present problems in their social, occupational and educational life, solutions have been sought to make these children socially useful individuals. This work shows the results obtained in 22 patients with this syndrome who were surgically treated to correct their facial stigmata. Objective: To show the functional changes and aesthetic advantages obtained with facial plastic surgery in patients with Down syndrome. Methods: A number of 22 patients with Down syndrome aged 3 to 14 years were chosen, in the period from 1986 to January 2019. The first 15 cases attended in the plastic surgery service of Hospital Pediátrico Docente William Soler were included; later, others attended in other national health centers. The surgical procedures performed for the correction of facial stigmata were partial glossectomy, lateral canthoplasty, medial canthoplasty, and otoplasty. Results: Aesthetic and functional changes were favorable, improving appearance and eliminating unattractive features. Positive changes in speech and breathing were obtained. Glossectomy and otoplasty were performed in 100 percent of cases. Conclusions: All operated-on patients attenuated their facial stigmata, while respiratory benefits and speech improvement were reported. The degree of satisfaction of their parents was good(AU)

Bioinformatics analysis of biomarkers and transcriptional factor motifs in Down syndrome

In this study, biomarkers and transcriptional factor motifs were identified in order to investigate the etiology and phenotypic severity of Down syndrome. GSE 1281, GSE 1611, and GSE 5390 were downloaded from the gene expression ominibus (GEO). A robust multiarray analysis (RMA) algorithm was applied to detect differentially expressed genes (DEGs). In order to screen for biological pathways and to interrogate the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway database, the database for annotation, visualization, and integrated discovery (DAVID) was used to carry out a gene ontology (GO) function enrichment for DEGs. Finally, a transcriptional regulatory network was constructed, and a hypergeometric distribution test was applied to select for significantly enriched transcriptional factor motifs. CBR1, DYRK1A, HMGN1, ITSN1, RCAN1, SON, TMEM50B, and TTC3 were each up-regulated two-fold in Down syndrome samples compared to normal samples; of these, SON and TTC3 were newly reported. CBR1, DYRK1A, HMGN1, ITSN1, RCAN1, SON, TMEM50B, and TTC3 were located on human chromosome 21 (mouse chromosome 16). The DEGs were significantly enriched in macromolecular complex subunit organization and focal adhesion pathways. Eleven significantly enriched transcription factor motifs (PAX5, EGR1, XBP1, SREBP1, OLF1, MZF1, NFY, NFKAPPAB, MYCMAX, NFE2, and RP58) were identified. The DEGs and transcription factor motifs identified in our study provide biomarkers for the understanding of Down syndrome pathogenesis and progression.

Autismo e síndrome de down: concepções de profissionais de diferentes áreas / Autism and down syndrome: conceptions of professionals of different areas / Autismo y síndrome de down: concepciones de profesionales de diferentes áreas

Este estudo teve como objetivo analisar as concepções de profissionais de diferentes áreas acerca do autismo e da síndrome de Down, tanto daqueles com experiência quanto dos sem experiência no trabalho com esses indivíduos. Participaram 75 profissionais, distribuídos nos seguintes grupos: psiquiatras, neurologistas, pediatras, fonoaudiólogos, fisioterapeutas, terapeutas ocupacionais, educadores físicos, psicólogos, pedagogos e professores. Foram realizadas entrevistas semi estruturadas com os participantes, as quais foram transcritas literalmente e submetidas à técnica de Análise de Conteúdo, proposta por Bardin. Ao analisar os relatos dos profissionais, percebeu-se que aqueles com experiência apresentaram conhecimentos mais específicos sobre o autismo e a síndrome de Down, enquanto aqueles sem experiência frequentemente mencionavam características mais conhecidas das duas síndromes. Embora tenham considerado os prejuízos que podem estar presentes no autismo e na síndrome de Down, observou-se que, de uma forma geral, os profissionais demonstraram também ter concepções positivas em relação a essas duas condições, ao reconhecerem as capacidades que tais indivíduos podem desenvolver. Destacou-se o fato de alguns profissionais desconhecerem o autismo, o que não ocorreu em relação à síndrome de Down, o que indica a necessidade de uma maior capacitação dos profissionais, sobretudo quanto à primeira dessas condições, vindo a contribuir para a inclusão escolar e social desses indivíduos.

This study aimed to analyze the conceptions of professionals from different areas about autism and Down syndrome, those with and without experience in working with these individuals. It included 75 professionals distributed in the following groups: psychiatrists, neurologists, pediatricians, speech therapists, physiotherapists, occupational therapists, physical educators, psychologists, pedagogues and teachers. Semi-structured interviews were conducted with the professionals, which were literally transcribed and submitted to the technique Content Analysis, proposed by Bardin. By analyzing the reports of professionals, it was found that those with experience had more specific knowledge about autism and Down syndrome, while those without experience often mentioned more general features of the two syndromes. Although they considered the deficits that may be present in autism and Down syndrome, it was observed that, in general, the professionals also have demonstrated positive conceptions regarding these two conditions, recognizing the capacities of these individuals. It was noted that some professionals had no knowledge about autism, which did not occur in relation to Down syndrome, pointing to the need for better training of professionals, especially in relation to the first of these conditions, in order to contribute to school and social inclusion of these individuals.

Este estudio tuvo como objetivo analizar las concepciones de profesionales de diferentes áreas sobre el autismo y el síndrome de Down, tanto de aquellos con experiencia como los sin experiencia en el trabajo con estos individuos. Participaron 75 profesionales distribuidos en los siguientes grupos: psiquiatras, neurólogos, pediatras, fonoaudiólogos, fisioterapeutas, terapeutas ocupacionales, educadores físicos, psicólogos, pedagogos y profesores. Se realizaron entrevistas semiestructuradas con los participantes, las cuales fueron transcriptas literalmente y sometidas a la técnica de Análisis de Contenido, propuesta por Bardin. Al analizar los relatos de los profesionales, se percibió que aquellos con experiencia presentaron conocimientos más específicos sobre el autismo y el síndrome de Down, mientras que los que no tenían experiencia frecuentemente mencionaban características más conocidas de los dos síndromes. Aunque hayan considerado los perjuicios que pueden estar presentes en el autismo y en el síndrome de Down, se observó que, en general, los profesionales demostraron también tener concepciones positivas con respecto a estas dos condiciones, al reconocer las capacidades que estos individuos pueden desarrollar. Se destacó el hecho de que algunos profesionales desconocen el autismo, lo que no ocurrió con relación al síndrome de Down, lo que apunta para la necesidad de una mayor capacitación de los profesionales, sobre todo en cuanto a la primera de estas condiciones, contribuyendo, así, para la inclusión escolar y social de estos individuos.

Down's syndrome patient with multiple sialoliths in Stenson's duct.

The presence of multiple sialoliths (calculi) in parotid duct is considered extremely rare. Parotid duct sialoliths are usually small and single. Multiple calculi formation, in any case, is an uncommon finding in the salivary glands. Salivary lithiasis is comparatively common in the Wharton's duct due to its tortuous ascending course and chemical composition of saliva of submandibular gland. The mechanism of sialolith formation in Down's syndrome patients is not completely known, and there are seldom cases reported in the literature available. The present case report is a very rare combination of a Down's syndrome with multiple sialoliths in Stenson's duct of left parotid gland in a 21year old male patient.

Prevalencia de anormalidades bucales y caries dental en portadores de Síndrome de Down / Prevalence of mouth anomalies and dentario caries in people with Down Syndrome

Este estudio epidemiológico evaluó la prevalencia de anormalidades bucales y caries dental en pacientes portadores de Síndrome de Down. La muestra fue compuesta por 48 pacientes con edades entre 2 y 18 años, siendo analizada las variables: sexo; edad, presencia y tipo de alteraciones bucales; frecuencia y forma de cepillado; visita al cirujano odontólogo y prevalencia de caries dental. Los datos fueron analizados descriptivamente con el Software Epi info 3.7 y presentados a través de estadística descriptiva. Análisis bivariado fue realizado a través del test Chi-cuadrado de Pearson (p<0,05). Del total examinado, 58.3% eran del sexo másculino, con predominio de las edades entre 2 a 10 años (66,7%). Fue verificado que 83.8% de la muestra tenía lengua fisurada y 35.4% poseía microdoncia. La frecuencia diaria de cepillado fue de dos veces al día (85,4%), siendo realizada bajo la supervisión de los padres (50,0%). Una única visita anual al cirujano odontólogo fue relatada por 85.7% de los evaluados. El valor medio del CPO-D fue de 5,3, con predominio de caries en el sexo femenino (75,0%) y entre las edades de 11 a 18 años (93,8%). Concluyese que la muestra estudiada presenta una alta prevalencia de caries y un conjunto de manifestaciones bucales peculiares al individuo portador del Síndrome de Down

This epidemiological study offered to evaluate the prevalence of mouth anomalies and dentario caries in patients with Down syndrome. The sample was composed of 48 patients aging from 2 to 18 years, being the following variables evaluated: sex, age, presence and types of mouth alterations; frequency and the way they brush; consult with the dentario surgeon and prevalence of dentario cavity. The data were organized with the aid of a 3.7 Epi info Software and presented by means of descriptive statistics. The bi-varied analysis was carried out through Pearson's Qui-square test (p<0.05). Out of the total examined, 58.3% were males, aging predominantly 2-10 years (66.7%). It was verified that 83.8% of the sample had fissured tongue, and 35.4% had microdonty. As to the brushing of the teeth, the daily frequency of twice a day prevailed (85.4%), being conducted under the parents' supervision (50.0%). A single annual consult with the dentario surgeon was stated by 85.7% of the subjects. The average value of DMF-T was 5.3, with predominance of dentario caries in females (75.0%) and in the patients aging 11-18 years (93.8%). It was concluded that the sample studied presents a high prevalence of dentario caries and an array of peculiar mouth manifestations to the person with Down syndrome

Trisomy 21; a Consequence of Advanced Maternal Age

K.M; a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert; febrile (38.5oC); acyanotic; with up-slanting eyes; low set ears; flat nose-bridge; small chin; short neck; pigeon chest and webbed toes. He was malnourished with delayed developmental milestones. A pansystolic murmur was auscultated at the lower left sternal edge; and he had impaired speech; reduced muscle bulk and muscle tone with muscle power of grade 3

La trisomía 21: 50 años después de lejeune / the 21-trisomy: 50 years after lejeune

El síndrome de Down, es la causa más frecuente de discapacidad intelectual, fue descrito por primera vez en el año 1886, durante una era de grandes cambios en el conocimiento de la genética y la evolución. Ocurre con una frecuencia de 1 por cada 700 nacidos vivos. En muchos casos la historia de la investigación en el síndrome de Down cursa paralela a la historia de la genética humana y ha sido fuente de grandes progresos en esta ciencia. En esta revisión se describe la interrelación entre los avances del conocimiento de la genética y el conocimiento del síndrome de Down tomando en consideración el impacto del descubrimiento de su etiología realizado en 1959 por Jerone Lejeune. Con motivo de la celebración de los 50 años de este acontecimiento, se escogió este descubrimiento como marcador de división cronológica de las etapas de producción del conocimiento sobre el síndrome, obteniéndose la era pre y pos-Lejeune, desde su descripción inicial al presente y sobre la base de esta perspectiva histórica se especula brevemente acerca del futuro de la investigación en el síndrome de Down

Down syndrome, is the most common cause of intellectual disabilities, it was first described in 1866, during an era of great change in understanding of genetics and evolution. It occurs in about I of every 700 newborns. In many instances, The history of research on Down syndrome courses parallels with the history of human genetics and it has inspired progress in human genetics. In this revision, it is described the interplay between advances in the understandins of genetics and the understanding of the Down syndrome and it was considered the finding of its etiology by Jerone Lejeune in 1959, as the index, Fifty years the discovery of the origin of the Down syndrome, it has been utilized for the division of two eras in the generation of knowledge in Down syndrome, the pre and the post-Lejeune era, from its initial description to the present, and on the basis of this historical perspective, speculate briefly about the future of research on Down syndrome

O papel da saúde bucal na qualidade de vida do indivíduo com síndrome de Down / The meaning of the oral health in the quality of life of the individual with Down syndrome

O aumento na expectativa de vida das pessoas com Síndrome de Down (SD) e o processo de inclusão social e familiar favoreceram muito a conquista de uma melhor qualidade de vida para essa população. Como parte desse processo, a odontologia representa um aspecto importante na conquista de melhores condições de vida e também de aceitação dessas pessoas junto à sociedade. Considerando-se as diversas características orofaciais presentes na síndrome, este artigo buscou discutir questões relacionadas ao papel da saúde bucal na qualidade de vida de pessoas acometidas pela SD.

Síndrome de Down: etiologia, caracterização e impacto na família / Down Syndrome: etiology, characteristics, and its effects on family

A Síndrome de Down é uma desordem genética que causa deficiência mental em graus variados. Atualmente, seu quadro clínico é bastante conhecido, sendo as características fenotípicas essenciais para o diagnóstico precoce da síndrome. A inserção adequada da criança no seu contexto sociocultural é de grande importância para a sua adaptação e bem-estar, e a família desempenha um papel primordial como mediadora desse processo. Neste artigo, discutimos questões relativas à caracterização e etiologia da síndrome de Down, destacando a participação da família no processo de desenvolvimento e adaptação dessa criança. Acreditamos que o conhecimento das alterações provocadas pela síndrome de Down constitua o primeiro passo para a implementação de programas voltados para uma melhor atuação de profissionais e pais

Síndrome de Down - Aspectos de interesse para o cirurgião dentista / Down's Syndrome - Aspects of interest to dentists

Sídrome de Down é uma cromossomopatia causada pela trissomia do 21, tendo como carecterísticas principais retardo mental alterações morfofuncionais com aparente característica físicas. Este artigo tem por objetivo uma revisão de literatura sobre o assunto, enfatizando os principais aspectos de interesse para o Cirurgião-Dentista. A etiopatogenia, as caracteríticas gerais e bucais serão abordadas, visando a consubstanciar o conhecimento do profissional da Odontologia e, consequentemente, promover um adequado atendimento para os pacientes portadores dessa síndrome

Síndrome de Down e hipertiroidismo: comunicación de 3 casos / Down's syndrome and hyperthyroidism: report of 3 cases

We report three patients with Down syndrome that developed a hyperthyroidism. A 25 years old female and a 18 years old male had Basedow graves disease and were treated with radioiodine. A 19 years old male had a hashitoxicosis and is presently being treated with propylthiouracyl. Clinical and subclinical thyroid dysfunction is frequent in patients with Down syndrome and the risk increases with age. Therefore a surveillance with yearly TSH measurements should be done in these patients, since signs and symptoms of thyroid disease are barely detected in them. Hypothyroidism is the most frequent dysfunction but hyperthyroidism is also associated to Down syndrome

Implicaciones anestésicas del Síndrome de Down

Los niños con Síndromed e Down padecen de múltiples alteraciones sistémicas y pueden presentarse para una multitud de procedimientos quirúrgicos. El conocimiento de las implicaciones anestésicas de estas alteraciones ayuda a prevenir potenciales complicaciones. Las áreas de especial preocupación son: la enfermedad cardíaca, la vía aérea anormal, el retardo mental y la inestabilidad de la columna cervical. Se presentan estrategias para el manejo perioperatorio y las principales precauciones a tomar con estos niños

Comportamento sexual e etiologia da sindrome de Down / Sexual behavior and the etiology of Down syndrome

Os habitos sexuais de 123 maes, na epoca da concepcao, foram revelados atraves da Tecnica de Entrevista de Ajuda e analisados estatisticamente. As maes de criancas com "Sindrome de Down" (SD) relataram com mais frequencia longos intervalos de abstinencia, na epoca da concepcao. Independente da idade materna, ha uma associacao entre a incidencia de SD e intervalos longos de obstinencia sexual

Maternal reproductive history and the occurrence of Down's syndrome.

Reproductive history of mothers of 115 Down's syndrome children was studied and compared with 200 control mothers who gave birth to normal children. The frequency of spontaneous abortions in mothers of Down's syndrome babies was found to be elevated significantly (p < 0.05). The data suggest that the maternal health and reproductive potential have a prominent aetiological significance in the occurrence of Down's syndrome.

Estudo da origem do cromossomo 21 extra em portadores de síndrome de Down / Study of the origin of extra chromosome 21 in patients with Down syndrome

A trissomia do cromossomo 21, mais conhecida como síndrome de Down, geralmente resulta da falta de disjunção cromossômica durante a meiose. A origem da não disjunção vem sendo estudada através do uso de heteromorfismos citogenéticos e pelo estudo dos polimorfismos de DNA. Pequenas seqüências repetitivas foram descritas como uma classe abundante de polimorfismos de DNA no genoma humano as quais podem ser tipadas através da técnica de reação de polimerase em cadeia (PCR). A análise destes polimorfismos provê um conhecimento maior sobre a origem e o estágio meiótico da não disjunção. Neste trabalho foram utilizados os marcadores D21S13E, D21S16 e D21S120, localizados na região pericentromérica do cromossomo 21, além do HMG14-GT2, localizado na região 21q22.3, para estudar a origem e o estágio meiótico da não disjunção do cromossomo 21 extra em 32 famílias com um filho portador de síndrome de Down. Entre estas, 7 famílias (22%) foram informativas, mostrando que a não disjunção ocorreu na meiose I, e 3 casos foram de origem materna, comprovados através do estudo do sistema HMG14-GT2. Para os outros sistemas moleculares estudados no presente trabalho, nenhuma família se mostrou informativa.