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1.
Quintessence Int ; 51(2): 170-177, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31942577

RESUMO

OBJECTIVE: Some patients with Down syndrome experience premature edentulism, which can lead to severe alveolar atrophy. This may cause retention problems with purely mucosa-supported dentures and ill-fitting total dentures. The intellectual disability associated with Down syndrome, with an (implied) inadequate ability for compliance, may pose a further challenge to dental treatment. The aim of this case report was to demonstrate that a combined implant-prosthetic denture with bar constructions can, nevertheless, be implemented in elderly Down syndrome patients with limited cooperation ability. METHOD AND MATERIALS: This report is the first to describe the procedure for an implant-supported total prosthetic restoration with bar joint in a 52-year-old edentulous patient with Down syndrome and limited ability to cooperate. Previous dental solutions had severely curtailed the patient's quality of life. By combining various forms of treatment, including behavior management, the course of therapy could be adapted to the patient's cooperation capability. RESULTS: The implant-supported total prosthetic restoration with bar joint was well accepted by the patient. Moreover, the patient's relatives reported that his life quality had improved distinctly (eg, considerable weight-gain, more positive mood). No impairments of the prostheses were observed during the 24-month follow-up period, and both implants remained clinically inconspicuous. CONCLUSION: The lack, or inadequacy, of dental prostheses can impair the life quality of individuals in need of such restorations. Implant-supported dentures in combination with a bar construction improve the retention of prostheses in atrophied jaws. This form of restoration is also proving to be a successful therapy option for elderly persons with Down syndrome.


Assuntos
Implantes Dentários , Síndrome de Down , Arcada Edêntula , Idoso , Prótese Dentária Fixada por Implante , Falha de Restauração Dentária , Revestimento de Dentadura , Seguimentos , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , Resultado do Tratamento
2.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 51(1): 49-53, 2020 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-31950789

RESUMO

Objective: To compare the effect of different first-trimester screening programmes for Down syndrome in Sichuan Province. Methods: We retrospectively collected the data of singleton pregnancies that were screened by serum biochemistry markers combined with nuchal translucency screening tests in the first trimester in Prenatal Diagnosis Center of West China Second University Hospital of Sichuan University from January 2011 to December 2017. The fetal chromosome results were obtained by amniocentesis or by telephone follow-up. The screening effect of maternal age, nuchal translucency thickness, maternal serum biochemistry markers and combined screening in the first trimester were analyzed. Results: Among the 21 723 singleton pregnancies, 33 cases were diagnosed as Down syndrome, and 19 cases were diagnosed as trisomy 18 sex chromosome abnormalities were found in 4 cases, and other chromosome abnormalities were found in 8 cases. For the combined screening, the detection rate of Down syndrome was 72.73%, and the false positive rate was 2.49%; the detection rate of trisomy 18 syndrome was 73.68% with the false positive rate of 0.39%. With a 5% false positive rate, maternal age, nuchal translucency thickness, serum biochemistry markers and combined screening would respectively detect 15.15%, 57.58%, 60.61% and 87.88% of Down syndrome fetuses. Conclusion: Compared with the other three screening programmes, the combined screening can effectively screen fetuses with Down syndrome and other chromosomal abnormalities.


Assuntos
Síndrome de Down , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal , Amniocentese , Biomarcadores/análise , Biomarcadores/sangue , China , Aberrações Cromossômicas , Síndrome de Down/sangue , Síndrome de Down/diagnóstico por imagem , Feminino , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos
4.
J Surg Res ; 245: 564-568, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31476645

RESUMO

BACKGROUND: Children with Hirschsprung disease (HD) and Down syndrome (DS) are reported to experience a higher incidence of Hirschsprung-associated enterocolitis (HAEC) than those without DS, although whether their individual episodes are more severe is unknown. METHODS: A single-institution retrospective cohort study was performed on all patients with HD admitted with HAEC between 2009 and 2017. Patients were divided into two groups based on an associated diagnosis of DS, and demographics, clinical characteristics at presentation, and clinical outcomes were compared. RESULTS: Of 86 admissions for HAEC over the study period, 12 (14%) were for patients with DS. Patients admitted with and without DS were similar in terms of age (3.0 versus 2.6 y, P = 0.72), male gender (58% versus 77%, P = 0.17), and proportion with disease proximal to the left colon (9% versus 12%, P = 0.70). Patients admitted with DS were more likely to be tachycardic (75% versus 19%, P ≤ 0.001) and hypotensive (33% versus 7%, P = 0.01) at presentation and presented for treatment after a longer duration of symptoms than those without DS (84 versus 24 h, P = 0.001). Patients admitted with DS were more likely to require intensive care unit admission (58% versus 12%, P = 0.006) and received a longer course of antibiotics (13 d versus 7 d, P = 0.02). The length of stay was similar (6 versus 4 d, P = 0.34). CONCLUSIONS: The results of our study suggest that patients with DS experience more severe episodes of HAEC. Ongoing study is needed to identify preventive strategies to decrease the morbidity of HAEC in children with HD and DS.


Assuntos
Síndrome de Down/complicações , Enterocolite/epidemiologia , Doença de Hirschsprung/complicações , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Enterocolite/diagnóstico , Enterocolite/etiologia , Feminino , Humanos , Incidência , Lactente , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença
6.
Nihon Yakurigaku Zasshi ; 154(6): 335-339, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31787686

RESUMO

Down syndrome caused by triplication of human chromosome 21 (HSA21) is the most frequent aneuploidy, resulting in mental retardation, intellectual disability and accelerated aging. Individuals with DS are at an increased risk of developing Alzheimer's disease (AD)-like dementia, with up to 75% of DS people in their 60s developing dementia. Oxidative stress is widely accepted as a mechanism underlying a number of DS symptoms, such as accelerated aging and cognitive decline. Superoxide disumutase 1 (Sod1) and amiloyd precursor protein (App) genes are suggested as the candidate genes in HSA21 underlying the enhanced oxidative stress in individuals with DS. However, we previously demonstrated that the Ts1Cje mouse model, which has a normal copy number of both candidate genes, also shows enhanced oxidative stress, suggesting that triplicated genes other than Sod1 and App likely enhance oxidative stress in the brain of DS people. To identify the molecules with enhanced oxidative stress in Ts1Cje mice, we performed several -omics analyses. Recently, we showed that copper was accumulated in the brain of adult Ts1Cje mice in an analysis using inductively coupled plasma mass spectrometry (ICP-MS), and a low-copper diet was able to improve the elevated levels of copper. The low-copper diet also resolved some anomalies, such as the enhanced oxidative stress, accumulation of phosphorylated tau and low anxiety. These findings suggest that the accumulation of copper in the DS brain may be a therapeutic target for ameliorating a number of abnormal phenotypes in individuals with DS.


Assuntos
Encéfalo/fisiopatologia , Cobre/metabolismo , Síndrome de Down/fisiopatologia , Adulto , Doença de Alzheimer , Animais , Modelos Animais de Doenças , Humanos , Camundongos
7.
Odontoestomatol ; 21(34): 46-55, Jul-Dic. 2019.
Artigo em Espanhol | LILACS, InstitutionalDB | ID: biblio-1024979

RESUMO

El Síndrome de Down (SD) o trisomía 21, es la anomalía congénita autosómica más frecuente cuya prevalencia mundial es de 10/10.000, en Chile de 2,5/1.000 nacidos vivos. Por trastornos de crecimiento, desarrollo e hipotonía muscular, las personas con SD presentan boca abierta con gran salivación, labio inferior evertido, elevación del labio superior en inactividad y descenso del ángulo de la boca. Objetivo: Evaluar la literatura sobre el tratamiento temprano de alteraciones orofaciales en niños con SD para prevenirlas o minimizarlas. Método: Búsqueda en base de datos PubMed y Scielo, sin discriminar año de publicación, idioma: inglés-español, seleccionando 26 artículos. Resultados: Existen cambios positivos en la función motora orofacial, observando mayores cambios en los casos más severos. Conclusiones: Un niño con SD se beneficia del tratamiento temprano, pero faltan estudios comparables en cuanto a duración, edad y tipo de terapia.


Down syndrome (DS) or trisomy 21 is the most frequent autosomal congenital anomaly, with a worldwide prevalence of 10/10,000; in Chile, the prevalence is 2.5/1,000 live births. People with DS present an open mouth with increased salivation, an everted lower lip, elevated and inactive upper lip, and lowering of the angle of the mouth on account of growth and development disorders, and muscular hypotonia. Objective: To evaluate the literature on the early treatment of orofacial alterations in children with DS to prevent or minimize them. Method: Search in PubMed and Scielo databases, regardless of the year of publication or language; 26 articles were selected. Results: There are positive effects on the orofacial motor function, observing significant changes in the most severe cases. Conclusions: A child with DS can benefit from early treatment, but there are insufficient comparable studies in terms of duration, age and type of therapy


A síndrome de Down (SD) ou a trissomia do cromossomo 21, é a anomalia congênita autossômica mais frequente, com prevalência global de 1 / 1.000, no Chile de 2.5 / 1.000 nascidos vivos. Devido aos distúrbios de crescimento, desenvolvimento e hipotonia muscular, as pessoas com SD apresentam boca aberta com grande salivação, lábio inferior evertido, elevação do lábio superior inativo e ângulo da boca mais baixo. Objetivo: Avaliar a literatura sobre o tratamento precoce dos distúrbios orofaciais em crianças com SD para prevenilas ou minimizá-las. Método: Pesquisa na base de dados PubMed e Scielo, sem discriminar ano de publicação, idioma: inglês-espanhol, selecionando 26 artigos. Resultados: Existem mudanças positivas na função motora orofacial, observando-se grandes alterações nos casos mais graves. Conclusões: Uma criança com SD se beneficia do tratamento precoce, mas faltam estudos comparáveis em termos de duração, idade e tipo de terapia.


Assuntos
Humanos , Criança , Síndrome de Down , Modalidades de Fisioterapia
8.
Rev. latinoam. cienc. soc. niñez juv ; 17(2): 148-169, jul.-dic. 2019. graf
Artigo em Espanhol | LILACS | ID: biblio-1043047

RESUMO

Resumen (descriptivo) Se presenta un modelo de intervención en atención temprana en niños y niñas con SD, inscribiéndose en el enfoque de derechos y la perspectiva de la educación inclusiva en primera infancia. Para abordar las necesidades educativo-sanitarias especiales de estos niños y niñas, de entre 0 y 4 años, se diseña un programa de intervención asociado al grado de discapacidad cognitiva-afectiva-relacional previamente diagnosticado. El seguimiento se desarrolla en un taller de acompañamiento con progenitores y en atenciones con los niños y niñas en un centro universitario de atención temprana. Este programa entrega a la familia herramientas para constituirse en agentes activos de cuidado en el proceso de desarrollo y aprendizaje de sus hijos e hijas. Se evidencian sus resultados y las propuestas de mejora que provienen de progenitores y cuidadores. Palabras clave: Atención temprana, Síndrome de Down, enfoque de derechos, discapacidad, familia. Tesauro de Ciencias Sociales de la Unesco, Iresie.


Abstract (descriptive) An intervention model for Early Childhood Assistance (ECA) is presented for children with Down's Syndrome. This is based on a human rights approach and an inclusive early childhood education perspective. To address the special educational and health needs of children with Down's Syndrome between the ages of 1 and 4 years, an intervention program based on the previously diagnosed degree of cognitive-affective-relational disability was designed. The follow-up session is carried out during a workshop with parents and in a practical session with the children at an ECA university center. This program gives families tools to become active agents in the process of their children's learning and development. The results of this work and the improvement proposals developed by the parents and caregivers themselves are described in the article. Keywords: Early attention, Down's syndrome, rights approach, disability, family.


Resumo (descritivo) Apresenta-se um modelo de intervenção em Atenção Precoce em crianças com síndrome de Down, registrado na abordagem dos direitos humanos e perspectiva da educação inclusiva na primeira infância. Para atender às necessidades educacionais e de saúde especiais destas crianças, com idades entre 1 e 4 anos, um programa de intervenção associada com o grau de deficiência relacional-afetivo-cognitiva é desenhado previamente e diagnosticado. O monitoramento ocorre em uma oficina de acompanhamento com os pais e os cuidados com as crianças em uma universidade atenção precoce. Este programa fornece ferramentas familiares para se tornarem agentes ativos no processo de desenvolvimento e aprendizagem dos seus filhos. Resultados e propostas de melhorias que vêm dos mesmos pais e cuidadores são evidentes. Palavras-chave: Atenção precoce; síndrome de Down; enfoque de direitos; deficiencia; família.


Assuntos
Família , Criança , Síndrome de Down
9.
Cuad. bioét ; 30(100): 315-329, sept.-dic. 2019.
Artigo em Espanhol | IBECS | ID: ibc-185244

RESUMO

La comunicación del diagnóstico de síndrome de Down tiene serias implicaciones éticas ya que la finalidad del mismo puede ser eugenésica o terapéutica. El objetivo de este artículo es, por un lado, resaltar el papel fundamental que desempeñan los profesionales sanitarios en la comunicación del diagnóstico y la posterior decisión de la madre. Por otra parte, se exponen las recomendaciones sobre la manera de comunicar un diagnóstico. Por último, se analiza el estado de la cuestión en España, para lo que se exponen los resultados de un estudio descriptivo transversal con una muestra de 352 madres en la que expresan, mediante una encuesta, sus experiencias personales sobre como han recibido la noticia. La conclusión a la que se llega es que la comunicación del diagnóstico de síndrome de Down se puede mejorar en muchos aspectos


Down Syndrome diagnosis communication has got serious ethical implications, since the aim thereof can be either eugenic or therapeutic. The purpose of this paper is, on the one hand, to highlight the fundamental role which sanitary professionals play in diagnosis communication and the subsequent decision of the mother. On the other, recommendations on the way to communicate a diagnosis are set out. Finally, in order to analize the state of play in Spain the results of a cross-sectional descriptive study with a sample of 352 mothers are exposed. In this study the mothers express, by means of a survey, their personal experiences of how they have received the news. It is concluded that the communication of Down syndrome diagnosis can be improved in many aspects


Assuntos
Humanos , Feminino , Comunicação em Saúde/ética , Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal/ética , Confidencialidade , Responsabilidade pela Informação/ética , Cuidado Pós-Natal/ética , Estudos Transversais , Eugenia (Ciência) , Notificação aos Pais/ética
10.
Adv Clin Exp Med ; 28(11): 1587-1592, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31778604

RESUMO

Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.


Assuntos
Síndrome de Down , Macroglossia , Síndrome de Down/fisiopatologia , Músculos Faciais/fisiopatologia , Humanos , Lactente , Recém-Nascido , Macroglossia/fisiopatologia , Hipotonia Muscular/fisiopatologia , Língua , Trissomia
11.
J Med Life ; 12(3): 221-224, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31666820

RESUMO

The last decade has seen incredible advances in the genetic era, in next-generation sequencing of cell-free DNA in the maternal plasma, detecting abnormal fetal chromosomes. Non-invasive prenatal testing (NIPT) has showed increased sensitivity and specificity for Down syndrome superior to any other screening test. Technical advances have made possible the detection of other conditions which does not necessarily mean clinical benefit for the patient. Private laboratories have added multiple conditions in the panel of NIPT, but some of these abnormalities are so rare, that their prevalence is not even clear. Data regarding clinical performance of extended NIPT is lacking. Implementation of such a test has to be carefully weighed, and not only the benefits but also the harm should be taken into account.


Assuntos
Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico , Aconselhamento , Síndrome de Down/diagnóstico , Feminino , Feto/diagnóstico por imagem , Feto/patologia , Humanos , Gravidez , Organização Mundial da Saúde
13.
Rev Port Cir Cardiotorac Vasc ; 26(3): 187-193, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31734969

RESUMO

BACKGROUND: Surgical repair is the standard treatment for complete atrioventricular septal defect. At our institution, this repair is performed by single patch, modified single patch or two patch techniques, according to the surgeon preferences and the surgical anatomy of the defect. The goal of this study was to evaluate our results from the last twelve years. METHODS: From June 2006 to June 2018, 81 children with complete atrioventricular septal defect (without tetralogy of Fallot or unbalanced ventricles) were submitted to surgical repair at our institution. Data from all patients was retrospectively collected and evaluated. RESULTS: The average age was 6.9 ± 13.7 months and 84% had Down syndrome. Eighty percent were symptomatic and 6 patients were previously submitted to pulmonary artery banding. No more that mild left atrioventricular valve insufficiency was found in 84% and 89% of the patients, at discharge and follow-up, respectively. Small residual septal defects were present in 27% at discharge; during follow-up, 41% of these closed spontaneously. Pulmonary hypertension at discharge and follow-up appeared in 3.7% and 1.3%, respectively. Permanente pacemaker was implanted in 3 patients. Left ventricle outflow tract obstruction was found in 3 patients and 2 needed surgical correction. At follow-up (40 ± 38 months), 90% of the patients presented NYHA functional class I. No significant differences in the main repair outcomes were found between techniques, with the exception of small residual septal defects, although the groups were unmatched. CONCLUSIONS: Overall and regardless of the technique used for the repair of complete AVSD, good early and midterm outcomes were achieved.


Assuntos
Síndrome de Down/complicações , Defeitos dos Septos Cardíacos/cirurgia , Criança , Pré-Escolar , Defeitos dos Septos Cardíacos/etiologia , Humanos , Estudos Retrospectivos , Resultado do Tratamento
14.
Science ; 366(6467): 797-798, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-31727814
15.
Nat Genet ; 51(12): 1691-1701, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31740836

RESUMO

In the mammalian genome, the clustered protocadherin (cPCDH) locus provides a paradigm for stochastic gene expression with the potential to generate a unique cPCDH combination in every neuron. Here we report a chromatin-based mechanism that emerges during the transition from the naive to the primed states of cell pluripotency and reduces, by orders of magnitude, the combinatorial potential in the human cPCDH locus. This mechanism selectively increases the frequency of stochastic selection of a small subset of cPCDH genes after neuronal differentiation in monolayers, 10-month-old cortical organoids and engrafted cells in the spinal cords of rats. Signs of these frequent selections can be observed in the brain throughout fetal development and disappear after birth, except in conditions of delayed maturation such as Down's syndrome. We therefore propose that a pattern of limited cPCDH-gene expression diversity is maintained while human neurons still retain fetal-like levels of maturation.


Assuntos
Caderinas/genética , Cromatina/genética , Síndrome de Down/patologia , Células-Tronco Pluripotentes Induzidas/citologia , Neurônios/fisiologia , Adulto , Animais , Astrócitos/citologia , Astrócitos/fisiologia , Encéfalo/citologia , Encéfalo/embriologia , Diferenciação Celular , Linhagem Celular , Síndrome de Down/genética , Regulação da Expressão Gênica , Histonas/genética , Humanos , Células-Tronco Pluripotentes Induzidas/fisiologia , Células-Tronco Pluripotentes Induzidas/transplante , Camundongos , Pessoa de Meia-Idade , Neurônios/citologia , Regiões Promotoras Genéticas , Ratos , Análise de Célula Única , Medula Espinal/citologia , Medula Espinal/transplante , Transplante Heterólogo
16.
Rev Med Suisse ; 15(668): 1914-1919, 2019 Oct 23.
Artigo em Francês | MEDLINE | ID: mdl-31643151

RESUMO

Following the introduction of non-invasive tests, antenatal screening for trisomy 21 underwent important changes. Clinicians had to rapidly adapt their practice, especially in the field of antenatal counseling. On a population wide scale, new strategies and guidelines have been implemented. This article reviews the basic concepts of antenatal screening, including the use of non-invasive cell-free fetal DNA testing.


Assuntos
Diagnóstico Pré-Natal/métodos , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Feminino , Feto/citologia , Feto/metabolismo , Humanos , Gravidez
17.
Nat Commun ; 10(1): 4766, 2019 10 18.
Artigo em Inglês | MEDLINE | ID: mdl-31628327

RESUMO

Trisomy 21 (T21) causes Down syndrome (DS), affecting immune and neurological function by ill-defined mechanisms. Here we report a large metabolomics study of plasma and cerebrospinal fluid, showing in independent cohorts that people with DS produce elevated levels of kynurenine and quinolinic acid, two tryptophan catabolites with potent immunosuppressive and neurotoxic properties, respectively. Immune cells of people with DS overexpress IDO1, the rate-limiting enzyme in the kynurenine pathway (KP) and a known interferon (IFN)-stimulated gene. Furthermore, the levels of IFN-inducible cytokines positively correlate with KP dysregulation. Using metabolic tracing assays, we show that overexpression of IFN receptors encoded on chromosome 21 contribute to enhanced IFN stimulation, thereby causing IDO1 overexpression and kynurenine overproduction in cells with T21. Finally, a mouse model of DS carrying triplication of IFN receptors exhibits KP dysregulation. Together, our results reveal a mechanism by which T21 could drive immunosuppression and neurotoxicity in DS.


Assuntos
Cromossomos Humanos Par 21/genética , Síndrome de Down/genética , Cinurenina/metabolismo , Receptores de Interferon/genética , Trissomia , Animais , Vias Biossintéticas/genética , Linhagem Celular , Citocinas/metabolismo , Síndrome de Down/metabolismo , Expressão Gênica , Humanos , Indolamina-Pirrol 2,3,-Dioxigenase/genética , Indolamina-Pirrol 2,3,-Dioxigenase/metabolismo , Metabolômica/métodos , Camundongos Endogâmicos C57BL , Ácido Quinolínico/metabolismo , Receptores de Interferon/metabolismo
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(10): 1031-1034, 2019 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-31598954

RESUMO

OBJECTIVE: To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. METHODS: A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR). RESULTS: A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2. CONCLUSION: The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.


Assuntos
Cromossomos Humanos Par 21/genética , Erros de Diagnóstico , Síndrome de Down , Cariotipagem , Trissomia/diagnóstico , Bandeamento Cromossômico , Variações do Número de Cópias de DNA , Feminino , Humanos
19.
J Forensic Odontostomatol ; 37(2): 9-17, 2019 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-31589591

RESUMO

The study aimed to carry out a comparative analysis between the lip print patterns in individuals with Down Syndrome and their nonsyndromic biological siblings. This was a cross-sectional blind study using an inductive approach and extensive direct observation procedures. A total of 68 cheiloscopic charts, named cheilograms, were divided into two groups (n=34), as follows: G1, including Down Syndrome individuals; and G2, including their nonsyndromic siblinggs. The convenience sample was selected in the city of João Pessoa, PB, Brazil. The following features were evaluated in eight labial regions called sub-quadrants: oral commissures (downturned, horizontal and upturned); lip thickness (thin, medium, thick and mixed); and labial grooves (I - complete vertical; I '- incomplete vertical; II - bifurcated; III - criss-cross; IV - reticular; or V - undefined). The data were analyzed by paired Student's t test and McNemar's Chi-square, with a 5% significance level. Most Down Syndrome individuals were found to have downturned oral commissures in 73.5% of cases, while their siblings showed a predominance of horizontal commissures in 73.5% of cases (p=0.009). There was no statistically significant difference for lip thickness between groups. In the analysis of labial groove patterns, Down Syndrome individuals (G1) showed a significant prevalence of the type I pattern (52.2%) as compared to their nonsyndromic siblings (30.1%) (p =< 0.001). Due to the tendency of having vertical labial groove patterns and downturned commissures, Down Syndrome individuals present cheiloscopic differences in relation to their nonsyndromic biological siblings, which suggests that syndromic genetics influences the development of these features. However, this may imply in a reduced potential of cheiloscopic identification due to the low divergence of labial phenotypes among Down Syndrome individuals.


Assuntos
Síndrome de Down , Irmãos , Brasil , Estudos Transversais , Humanos , Lábio
20.
Rinsho Ketsueki ; 60(9): 1299-1307, 2019.
Artigo em Japonês | MEDLINE | ID: mdl-31597856

RESUMO

Down syndrome (DS) is related to constitutional trisomy 21 and is characterized by typical dysmorphic features and various congenital abnormalities. DS is also associated with a broad spectrum of hematological findings, such as transient thrombocytopenia in the neonatal period and acute leukemia. Of those hematological abnormalities, transient abnormal myelopoiesis (TAM) and acute myeloid leukemia (AML) have common genetic abnormalities, i.e., trisomy 21 and GATA1 mutation, and form a continuous spectrum, referred to as myeloid proliferations related to DS. Recent studies have demonstrated interactions between trisomy 21 and GATA1 mutations. Trisomy 21 promotes the expansion of early hematopoietic progenitors and upregulates short form GATA1, resulting in the accelerated production of aberrantly differentiated cells and development of TAM. Following spontaneous remission of TAM, subsequent AML can evolve from a preexisting residual TAM clone through the acquisition of additional mutations involving multiple cohesion components and epigenetic regulators.


Assuntos
Síndrome de Down/patologia , Leucemia Mieloide Aguda/complicações , Reação Leucemoide/complicações , Células Mieloides/citologia , Proliferação de Células , Síndrome de Down/complicações , Fator de Transcrição GATA1/genética , Humanos , Mutação
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