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1.
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
2.
Pediatrics ; 144(2)2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31315916

RESUMO

BACKGROUND AND OBJECTIVES: Whether BMI captures adiposity and cardiometabolic risk in Down syndrome (DS), a condition associated with obesity, short stature, and altered body proportions, is not known. We compared cardiometabolic risk measures in youth with DS and typically developing matched controls. METHODS: Youth with (n = 150) and without (n = 103) DS of comparable age (10-20 years), sex, race, ethnicity, and BMI percentile underwent whole-body dual-energy X-ray absorptiometry, fasting glucose, insulin, lipids, lipoprotein particles, inflammatory factors, and when BMI percentile ≥85, an oral glucose tolerance test. RESULTS: Sixty-four percent of youth with DS had BMI percentile ≥85. Among these, no difference in glucose, insulin, or insulin resistance was detected, but prediabetes was more prevalent with DS (26.4% vs 10.3%; P = .025) after adjustment for demographics, pubertal status, and BMI z score (odds ratio = 3.2; P = .026). Among all participants, those with DS had higher low-density lipoprotein cholesterol (median 107 [interquartile range 89-128] vs 88.5 [79-103] mg/dL; P < .00005), triglycerides (89.5 [73-133] vs 71.5 [56-104] mg/dL; P < .00005), non-high-density lipoprotein cholesterol (non-HDL-C; 128 [104-153] vs 107 [92-123] mg/dL; P < .00005), and triglycerides/HDL-C (2.2 [1.6-3.4] vs 1.7 [1.1-2.5] mg/dL; P = .0003) and lower levels of HDL-C (41 [36.5-47] vs 45 [37-53] mg/dL; P = .012). DS youth had higher high-sensitivity C-reactive protein, interleukin-6, small low-density lipoprotein particles (LDL-P), and total LDL-P, but similar LDL-P size. Youth with DS had less visceral fat (VFAT), fat mass, and lean mass for BMI z score, but greater VFAT at higher fat mass. However, VFAT did not fully explain the increased prevalence of dyslipidemia or prediabetes in youth with DS. CONCLUSIONS: Despite similar insulin resistance, youth with DS had greater prevalence of dyslipidemia and prediabetes than typically developing youth, which was not fully explained by VFAT.


Assuntos
Composição Corporal/fisiologia , Doenças Cardiovasculares/sangue , Síndrome de Down/sangue , Doenças Metabólicas/sangue , Obesidade/sangue , Adolescente , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico por imagem , Criança , Estudos Transversais , Síndrome de Down/diagnóstico por imagem , Feminino , Humanos , Resistência à Insulina/fisiologia , Masculino , Doenças Metabólicas/diagnóstico por imagem , Obesidade/diagnóstico por imagem , Fatores de Risco , Adulto Jovem
3.
Dev Med Child Neurol ; 61(8): 867-879, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31102269

RESUMO

Down syndrome is the most common genetic developmental disorder in humans and is caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a complex condition which results in multiple lifelong health problems, including varying degrees of intellectual disability and delays in speech, memory, and learning. As both length and quality of life are improving for individuals with Down syndrome, attention is now being directed to understanding and potentially treating the associated cognitive difficulties and their underlying biological substrates. These have included imaging and postmortem studies which have identified decreased regional brain volumes and histological anomalies that accompany early onset dementia. In addition, advances in genome-wide analysis and Down syndrome mouse models are providing valuable insight into potential targets for intervention that could improve neurogenesis and long-term cognition. As little is known about early brain development in human Down syndrome, we review recent advances in magnetic resonance imaging that allow non-invasive visualization of brain macro- and microstructure, even in utero. It is hoped that together these advances may enable Down syndrome to become one of the first genetic disorders to be targeted by antenatal treatments designed to 'normalize' brain development. WHAT THIS PAPER ADDS: Magnetic resonance imaging can provide non-invasive characterization of early brain development in Down syndrome. Down syndrome mouse models enable study of underlying pathology and potential intervention strategies. Potential therapies could modify brain structure and improve early cognitive levels. Down syndrome may be the first genetic disorder to have targeted therapies which alter antenatal brain development.


Assuntos
Encéfalo/crescimento & desenvolvimento , Síndrome de Down/diagnóstico por imagem , Neuroimagem/métodos , Encéfalo/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética
4.
Fetal Diagn Ther ; 46(3): 200-206, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30928975

RESUMO

BACKGROUND: The examination of the fetal ear is a promising but still challenging approach in prenatal diagnosis. OBJECTIVES: This study investigated a novel ear length/width ratio based on anatomical landmarks. Additionally, we compared different 3D ultrasound surface rendering modes regarding their potential to depict detailed structures of the outer ear. METHOD: We measured both the ear length and width of 118 fetal ears from 20 to 40 weeks of gestation to establish a length/width ratio. Additionally, we rendered the volumes in three different surface display modes and one adapted light position. Each image was scored regarding the visibility of distinct structures of the ear relief and indicator scores were evaluated for each mode. RESULTS: The median of the length/width ratio was 1.9 with a slight decline over the gestational period. The overall visibility of the ear structures differed noticeably between the four surface display modes (p < 0.001). The post hoc comparison showed that the display mode "TrueVue" resulted in the highest indicator scores. CONCLUSION: The length/width ratio based on anatomical landmarks of the ear could prospectively be used as a marker in syndrome detection. The study showed a superiority of the surface display mode "TrueVue" for examination of the detailed ear structures.


Assuntos
Orelha Externa/diagnóstico por imagem , Imagem Tridimensional/métodos , Ultrassonografia Pré-Natal/métodos , Adulto , Biometria , Síndrome de Down/diagnóstico por imagem , Feminino , Humanos , Síndrome de Noonan/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Valores de Referência
6.
Pediatr Neurosurg ; 54(1): 12-20, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30677764

RESUMO

BACKGROUND/AIMS: Down syndrome is the most common inherited disorder. Some patients develop atlantoaxial instability. Existing screening guidelines were developed prior to availability of MRI. We present predictors for deficit using dynamic MRI of the craniocervical junction. METHODS: A retrospective review of Down syndrome patients from 2001 to 2015 was carried out. Patients were considered symptomatic if they had clinical deficits or signal change on MRI. Measurements were taken at the atlantoaxial junction and structural abnormalities noted. Analysis was performed with SPSS. RESULTS: A total of 36 patients were included. Patients averaged 93 months of age with a follow-up of 57 months. No asymptomatic patients developed myelopathy during follow-up. During dynamic imaging, symptomatic patients had greater changes in space available for the cord (SAC) (5.2 vs. 2.7 mm; p < 0.001) and atlantodental interval (ADI) (2.8 vs. 1.3 mm; p = 0.04). These patients were also more likely to have a bony anomaly (50 vs. 13%; p = 0.03). CONCLUSION: This study characterizes the range of motion seen on dynamic MRI and provides parameters that can be used to distinguish patients at risk for neurologic injury. Changes greater than 3 mm in ADI or 5 mm in SAC during dynamic MRI or any bony abnormality warrants further investigation. Patients without these features may be able to avoid an unnecessary intervention.


Assuntos
Articulação Atlantoaxial/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Instabilidade Articular/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Amplitude de Movimento Articular/fisiologia , Articulação Atlantoaxial/cirurgia , Criança , Síndrome de Down/cirurgia , Feminino , Seguimentos , Humanos , Instabilidade Articular/cirurgia , Masculino , Estudos Retrospectivos
7.
Brain Imaging Behav ; 13(2): 345-353, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29752653

RESUMO

The focus of Alzheimer's disease (AD) neuroimaging research has shifted towards an investigation of the earliest stages of AD pathogenesis, which manifests in every young adult with Down syndrome (DS; trisomy 21) resulting from a deterministic genetic predisposition to amyloid precursor protein overproduction. Due to morphological differences in brain structure in the DS population, special consideration must be given to processing pipelines and the use of normative atlases developed for the non-DS population. Further, the use of typical MRI to MRI template spatial normalization is less desirable in this cohort due to a greater presence of motion artefacts in MRI images. The diffuse nature of PiB uptake and comparatively lower spatial resolution of the PET image permits the purposing of this modality as a template for spatial normalization, which can substantially improve the robustness of this procedure in the cases of MRI images with motion. The aim of this work was to establish standardized methods for spatial normalization and tissue type segmentation using DS specific templates in order to perform voxel-wise analyses. A total of 72 adults with DS underwent [11C]PiB PET to assess brain amyloid burden and volumetric MRI imaging. A DS specific PiB template for spatial normalization and a set of DS specific prior probability templates were created with two-pass methods. With implementation of this DS specific PiB template, no participants were excluded due to poor spatial normalization, thus maximizing the sample size for PiB analyses in standardized space. In addition, difference images between prior probability templates created from the general population and the DS population reflected known morphological differences, particularly in the frontal cortex. In conclusion, DS specific templates that account for unique challenges improve spatial normalization and tissue type segmentation, and provide a framework for reliable voxel-wise analysis of AD biomarkers in this atypical population.


Assuntos
Síndrome de Down/diagnóstico por imagem , Imagem por Ressonância Magnética/métodos , Placa Amiloide/diagnóstico por imagem , Tomografia por Emissão de Pósitrons/métodos , Adulto , Encéfalo/patologia , Síndrome de Down/fisiopatologia , Feminino , Humanos , Imagem por Ressonância Magnética/normas , Masculino , Tomografia por Emissão de Pósitrons/normas , Compostos Radiofarmacêuticos
8.
J Matern Fetal Neonatal Med ; 32(14): 2280-2286, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29353507

RESUMO

PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. RESULTS: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ2(1) = 6.252, p = .012 and 28/97, 28.9%, Χ2(1) = 10.955, p < .001, respectively). CONCLUSIONS: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.


Assuntos
Costela Cervical/anormalidades , Síndrome de Down/complicações , Feto/anormalidades , Estudos de Casos e Controles , Costela Cervical/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Feminino , Feto/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Radiografia , Vértebras Torácicas/anormalidades , Vértebras Torácicas/diagnóstico por imagem
9.
Fetal Diagn Ther ; 45(5): 317-324, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29940565

RESUMO

OBJECTIVE: To determine whether screening for trisomy 21 based on first-trimester combined screening (FTCS) with assessment of nasal bone (NB), tricuspid flow (TCF), and ductus venosus flow (DVF) results in similar false-positive rates compared to ultrasound and cell-free DNA (cfDNA) screening. METHODS: This is a subanalysis of a prospective randomized controlled trial which was performed between October 2015 and December 2016. Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation were randomized into two groups: (1) FTCS with assessment of the NB, TCF, and DVF (extended FTCS [eFTCS]), and (2) ultrasound + cfDNA screening. The false-positive rate in screening for trisomy 21 was defined as the primary outcome parameter. RESULTS: The study population consisted of 688 women in each study arm. In the eFTCS group, the median delta fetal nuchal translucency thickness (NT) was 0.0 mm, free beta-hCG and PAPP-A were 0.96 and 1.11 MoM, and NB, TCF, and DVF PIV were abnormal in 0.9, 0.6, and 7.0% cases. In the ultrasound + cfDNA group, the median delta NT was 0.0 mm. In 10 pregnancies the cfDNA analysis was uninformative and the risk of trisomy 21 was based on eFTCS. There were no false-positive cases in the ultrasound + cfDNA group, whereas the false-positive rates were between 0.9 and 2.2% with eFTCS. CONCLUSION: Screening for trisomy 21 based on ultrasound + cfDNA has a lower false-positive rate than screening based on eFTCS.


Assuntos
Ácidos Nucleicos Livres/genética , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Testes Genéticos/normas , Primeiro Trimestre da Gravidez/genética , Ultrassonografia Pré-Natal/normas , Adulto , Reações Falso-Positivas , Feminino , Testes Genéticos/métodos , Humanos , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal/métodos
10.
Brain Dev ; 41(1): 106-110, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30086988

RESUMO

The average lifespan of individuals with Down syndrome has approximately doubled over the past three decades to 55-60 years. To reveal the pathogenic process of Alzheimer-type dementia in individuals with Down syndrome, we immunohistochemically examined senile plaque formation in the cerebral cortex in the autopsy brain and compared findings with our previous studies. We described a 52-year-old female with Down syndrome who developed progressively more frequent myoclonus following cognitive decline and died at the age of 59 years. Her karyotype [46XX, inv(9)(p12q13), i(21)(q10)] included triplication of the gene for amyloid precursor protein and the Down syndrome critical region. On microscopy, very few gamma-aminobutyric acid-ergic (GABAergic) neurons, in the form of small granular cells, in the cortex and Purkinje cells in the cerebellum were visible. In our previous study, amyloid precursor protein immunoreactivity was first noted in senile plaques at the age of 32 years. In this patient, even though amyloid ß immunoreactivity was detected in the cores of senile plaques and diffuse plaques, amyloid precursor protein immunoreactivity was not noted in senile plaques in the frontal cortex. Amyloid precursor protein and its derivative amyloid-ß play an important role in the formation of senile plaques and the time course of immunoreactive expression may be related to the pathogenic process of Alzheimer-type dementia.


Assuntos
Doença de Alzheimer/metabolismo , Precursor de Proteína beta-Amiloide/metabolismo , Encéfalo/metabolismo , Síndrome de Down/metabolismo , Placa Amiloide/metabolismo , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Síndrome de Down/patologia , Epilepsias Mioclônicas/diagnóstico por imagem , Epilepsias Mioclônicas/genética , Epilepsias Mioclônicas/metabolismo , Epilepsias Mioclônicas/patologia , Evolução Fatal , Feminino , Humanos , Pessoa de Meia-Idade , Placa Amiloide/diagnóstico por imagem , Placa Amiloide/genética , Placa Amiloide/patologia
11.
Eur J Paediatr Neurol ; 23(1): 158-164, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30279085

RESUMO

BACKGROUND: Patients with Down syndrome carry a third copy of the amyloid precursor protein gene, which is localized on chromosome 21. Consequently, these patients are prone to develop early-onset Alzheimer disease and cerebral amyloid angiopathy. Post-mortem studies suggest increased amyloid deposition to be already detectable in children with Down syndrome. The aim of our study was to evaluate if amyloid-related changes in pediatric Down syndrome patients can be detected in vivo using MRI biomarkers of cerebral microbleeds and cortical superficial siderosis. MATERIALS AND METHODS: This retrospective study included 12 patients with Down syndrome (mean age = 5.0 years) and 12 age-matched control subjects (mean age = 4.8 years). Frequency and location of microbleeds and siderosis were assessed on blood-sensitive MRI sequences in a consensus reading by two radiologists applying a modified Microbleed Anatomical Rating Scale. RESULTS: Down syndrome patients showed a significantly higher mean microbleeds count and likelihood of siderosis than age-matched controls. Across groups, the highest microbleeds count was found in lobar regions (gray and white matter of frontal, parietal, temporal, and occipital lobes, and the insula), while fewer microbleeds were located in subcortical and infratentorial regions. The number of microbleeds increased over time in all three Down syndrome patients with a follow-up exam. CONCLUSION: In vivo MRI biomarkers can support the diagnosis of early-onset cerebral amyloid angiopathy, which might already be present in pediatric Down syndrome patients. This might contribute to clinical decision-making and potentially to the development of therapeutic and prophylactic approaches, as cerebral amyloid angiopathy increases the risk for intracranial hemorrhage and may be associated with increased risk of developing Alzheimer disease.


Assuntos
Hemorragia Cerebral/epidemiologia , Hemorragia Cerebral/etiologia , Síndrome de Down/complicações , Hemossiderose/epidemiologia , Hemossiderose/etiologia , Angiopatia Amiloide Cerebral/epidemiologia , Angiopatia Amiloide Cerebral/etiologia , Hemorragia Cerebral/diagnóstico por imagem , Criança , Pré-Escolar , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/patologia , Feminino , Hemossiderose/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Estudos Retrospectivos
13.
Obstet Gynecol ; 132(6): 1368-1375, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30399107

RESUMO

OBJECTIVE: To examine chromosomal microarray analysis results in pregnancies with various ultrasonographic anomalies and to characterize the copy number variants in diverse fetal phenotypes. METHODS: We retrospectively examined chromosomal microarray analyses of amniocenteses performed nationwide as a result of fetal ultrasonographic anomalies (structural defects, fetal growth restriction, and polyhydramnios) between January 2013 and September 2017. The rate of abnormal chromosomal microarray findings was compared between the different phenotypes and with a previously described control population of 15,225 pregnancies with normal ultrasonographic findings. RESULTS: Clinically significant chromosomal microarray aberrations were detected in 272 of 5,750 pregnancies (4.7%): 115 (2%) karyotype-detectable and 157 (2.7%) submicroscopic. Most commonly detected copy number variants were 22q11.21 deletions (0.4%) followed by 22q11.21 gain of copy number (0.2%). Specific copy number variants detected among pregnancies with abnormal ultrasonographic findings were up to 20-fold more prevalent compared with low-risk pregnancies. Some variants were associated with specific phenotypes (eg, 22q11.21 microdeletions with cardiovascular and 17q12 microdeletions with genitourinary defects). CONCLUSION: The rate of abnormal amniotic chromosomal microarray analysis results is twice that of karyotypic abnormalities in pregnancies with various abnormal ultrasonographic findings.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Cromossomos , Retardo do Crescimento Fetal/genética , Análise em Microsséries , Poli-Hidrâmnios/genética , Síndrome da Deleção 22q11/diagnóstico por imagem , Síndrome da Deleção 22q11/genética , Cariótipo Anormal , Anormalidades Múltiplas/diagnóstico por imagem , Amniocentese , Variações do Número de Cópias de DNA , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/genética , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Feto/anormalidades , Humanos , Cariotipagem , Fenótipo , Poli-Hidrâmnios/diagnóstico por imagem , Gravidez , Estudos Retrospectivos , Síndrome da Trissomia do Cromossomo 13/diagnóstico por imagem , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/diagnóstico por imagem , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal
14.
J Pregnancy ; 2018: 1646035, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30402287

RESUMO

Objective: The aim of the study was to determine sonographers' experiences with the introduction of an offer of noninvasive prenatal testing (NIPT) to a new moderate-risk (MR) group at the combined first-trimester prenatal screening (cFTS). Study Design: A qualitative approach consisting of seven semistructured interviews with five sonographers (midwives and nurses). Data was analyzed using thematic analysis. Main Outcome Measures: Sonographers' perception of offering NIPT to women in MR. Results: The sonographers understood NIPT as a positive development in prenatal screening due to a safe procedure and high detection rates for trisomies 13, 18, and 21. Prior to the introduction of MR, the sonographers were concerned about inducing worry in pregnant women in this new risk group. However, the pregnant women responded very positively, which the sonographers attributed to several factors such as the women's overall reason for participating in prenatal screening, the simplicity of the NIPT procedure, and the communicative strategies used by the sonographers. The strategies included all sonographers using the same words and explanations, emphasizing that statistics were in the women's favor, initiating the presentation of MR with a positive message, and downplaying the MR category. Conclusion: Sonographers' communicative strategies succeeded in limiting worry in pregnant women in MR. As such, the findings are valuable for health professionals, who are responsible for communicating about prenatal screening results and diagnostic options.


Assuntos
Síndrome de Down/diagnóstico por imagem , Gravidez/psicologia , Diagnóstico Pré-Natal/psicologia , Ultrassonografia , Ansiedade , Comunicação , Dinamarca , Feminino , Humanos , Entrevistas como Assunto , Tocologia , Relações Enfermeiro-Paciente , Enfermeiras e Enfermeiros , Participação do Paciente , Primeiro Trimestre da Gravidez , Risco
16.
Clin Biomech (Bristol, Avon) ; 58: 96-102, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30064043

RESUMO

BACKGROUND: Hip instability is frequent in patients with Down syndrome. Recent studies have suggested that skeletal hip alterations are responsible for this instability; however, there are currently no studies simultaneously assessing femoral and acetabular anatomy in subjects with Down syndrome in the standing position. The aim was to analyze the three-dimensional anatomy of the Down syndrome hip in standing position. METHODS: Down syndrome subjects were age and sex-matched to asymptomatic controls. All subjects underwent full body biplanar X-rays with three-dimensional reconstructions of their pelvises and lower limbs. Parameter means and distributions were compared between the two groups. FINDINGS: Forty-one Down syndrome and 41 control subjects were recruited. Acetabular abduction (mean = 52° [SD = 9°] vs. mean = 56° [SD = 8°]) and anteversion (mean = 14° [SD = 8°] vs. mean = 17.5° [SD = 5°]) as well as posterior acetabular sector angle (mean = 91° [SD = 7°] vs. mean = 94° [SD = 7°]) were significantly lower in Down syndrome subjects compared to controls (P < 0.01). Anterior acetabular sector angle (mean = 62° [SD = 10°] vs. mean = 59° [SD = 7°]; P < 0.01) was significantly higher in Down syndrome compared to controls. The distributions of acetabular anteversion (P = 0.002;V = 0.325), femoral anteversion (P = 0.004;V = 0.309) and the instability index (P < 0.001;V = 0.383) were significantly different between the two groups, with subjects with Down syndrome having both increased anteversion and retroversion for each of these parameters. INTERPRETATION: Subjects with Down syndrome were found to have a significantly altered and more heterogeneous anatomy of their proximal hips compared to controls. This heterogeneity suggests that treatment strategies of hip instability in Down syndrome should be subject-specific and should rely on the understanding of the underlying three-dimensional anatomy of each patient.


Assuntos
Acetábulo/anatomia & histologia , Síndrome de Down/patologia , Fêmur/anatomia & histologia , Acetábulo/diagnóstico por imagem , Adolescente , Estudos Transversais , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/fisiopatologia , Feminino , Fêmur/diagnóstico por imagem , Humanos , Imagem Tridimensional , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/etiologia , Instabilidade Articular/fisiopatologia , Masculino , Pelve/diagnóstico por imagem , Radiografia , Estudos Retrospectivos , Posição Ortostática , Tomografia Computadorizada por Raios X
17.
Clin Dysmorphol ; 27(4): 126-129, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29985174

RESUMO

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Síndrome de Down/diagnóstico por imagem , Aneuploidia , Autopsia/métodos , Anormalidades Craniofaciais/etiologia , Síndrome de Down/fisiopatologia , Face/anormalidades , Feminino , Feto , Humanos , Masculino , Gravidez , Trissomia , Ultrassonografia Pré-Natal/métodos
18.
Hum Brain Mapp ; 39(10): 4043-4054, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29885016

RESUMO

Increased cortical thickness (CT) has been reported in Down syndrome (DS) during childhood and adolescence, but it remains unclear, which components of the neural architecture underpin these increases and if CT remains altered in adults. Among other factors, differences in CT measures could be driven by reduced tissue contrast between grey and white matter (GWC), which has been reported in neurodegenerative disorders, such as Alzheimer's disease. Using structural magnetic resonance imaging, we therefore examined differences in CT and GWC in 26 adults with DS, and 23 controls, to (1) examine between-group differences in CT in adulthood, (2) establish whether DS is associated with significant reductions in GWC, and (3) determine the influence of GWC variability on between-group differences in CT. As hypothesized, we observed that DS was accompanied by wide-spread increases in CT, and significantly reduced GWC in several large clusters distributed across the cortex. Out of all vertices with a significant between-group difference in CT, 38.50% also displayed a significant reduction in GWC. This percentage of overlap was also statistically significant and extremely unlikely to be obtained by chance (p = .0002). Differences in GWC thus seem to explain some, although not all, of the differences in CT observed in DS. In addition, our study is the first to extend previous in vivo reports of altered CT in DS during childhood and adolescence to older adults, implying that the regional pattern of neuroanatomical differences associated with DS remains stable across the lifespan.


Assuntos
Córtex Cerebral/patologia , Síndrome de Down/patologia , Substância Cinzenta/patologia , Substância Branca/patologia , Adolescente , Adulto , Córtex Cerebral/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neuroimagem , Substância Branca/diagnóstico por imagem , Adulto Jovem
19.
Neuroimage Clin ; 18: 160-166, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29868444

RESUMO

Background: We longitudinally assessed Down syndrome individuals at the age of risk of developing dementia to measure changes in brain anatomy and their relationship to cognitive impairment progression. Methods: Forty-two Down syndrome individuals were initially included, of whom 27 (mean age 46.8 years) were evaluable on the basis of completing the 2-year follow-up and success in obtaining good quality MRI exams. Voxel-based morphometry was used to estimate regional brain volumes at baseline and follow-up on 3D anatomical images. Longitudinal volume changes for the group and their relationship with change in general cognitive status and specific cognitive domains were mapped. Results: As a group, significant volume reduction was identified in the substantia innominata region of the basal forebrain, hippocampus, lateral temporal cortex and left arcuate fasciculus. Volume reduction in the substantia innominata and hippocampus was more prominent in individuals whose clinical status changed from cognitively stable to mild cognitive impairment or dementia during the follow-up. Relevantly, longitudinal memory score change was specifically associated with volume change in the hippocampus, prospective memory with prefrontal lobe and verbal comprehension with language-related brain areas. Conclusions: Results are notably concordant with the well-established anatomical changes signaling the progression to dementia in Alzheimer's disease, despite the dense baseline pathology that developmentally accumulates in Down syndrome. This commonality supports the potential value of Down syndrome as a genetic model of Alzheimer's neurodegeneration and may serve to further support the view that Down syndrome patients are best candidates to benefit from treatment research in Alzheimer's disease.


Assuntos
Encéfalo/diagnóstico por imagem , Demência/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Adulto , Envelhecimento , Encéfalo/patologia , Demência/etiologia , Demência/patologia , Progressão da Doença , Síndrome de Down/complicações , Síndrome de Down/patologia , Feminino , Humanos , Estudos Longitudinais , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos
20.
J Midwifery Womens Health ; 63(3): 323-329, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29763964

RESUMO

Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings. The health care provider's ability to prepare patients prior to the ultrasound and deliver the necessary information needed to make informed decisions regarding any follow-up screening or diagnostic testing is critical to reducing parental anxiety. Preparation for the anatomic survey should include counseling for normal and abnormal findings. The ethical concepts of patient autonomy and shared decision making are used as a guide in providing this critical information and enabling informed choices during follow-up for incidental ultrasound findings.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Achados Incidentais , Cuidado Pré-Natal/organização & administração , Ultrassonografia Pré-Natal/enfermagem , Adulto , Anormalidades Congênitas/enfermagem , Síndrome de Down/diagnóstico por imagem , Feminino , Humanos , Medição da Translucência Nucal/enfermagem , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal/enfermagem , Trissomia/diagnóstico
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