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[PMID]:28931574
[Au] Autor:McCoy ES; Taylor-Blake B; Aita M; Simon JM; Philpot BD; Zylka MJ
[Ad] Endereço:Department of Cell Biology and Physiology and University of North Carolina Neuroscience Center.
[Ti] Título:Enhanced Nociception in Angelman Syndrome Model Mice.
[So] Source:J Neurosci;37(42):10230-10239, 2017 Oct 18.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutation or deletion of the maternal allele. The maternal allele is expressed in nearly all neurons of the brain and spinal cord, whereas the paternal allele is repressed by an extremely long antisense transcript ( ). Little is known about expression of in the peripheral nervous system, where loss of maternal might contribute to AS phenotypes. Here we sought to examine maternal and paternal expression in DRGs neurons and to evaluate whether nociceptive responses were affected in AS model mice (global deletion of maternal allele; ). We found that most large-diameter proprioceptive and mechanosensitive DRG neurons expressed maternal and paternal In contrast, most small-diameter neurons expressed biallelically and had low to undetectable levels of Analysis of single-cell DRG transcriptomes further suggested that is expressed monoallelically in myelinated large-diameter neurons and biallelically in unmyelinated small-diameter neurons. Behavioral responses to some noxious thermal and mechanical stimuli were enhanced in male and female AS model mice; however, nociceptive responses were not altered by the conditional deletion of maternal in the DRG. These data suggest that the enhanced nociceptive responses in AS model mice are due to loss of maternal in the central, but not peripheral, nervous system. Our study provides new insights into sensory processing deficits associated with AS. Angelman syndrome (AS) is a neurodevelopmental disorder caused by loss or mutation of the maternal allele. While sensory processing deficits are frequently associated with AS, it is currently unknown whether is expressed in peripheral sensory neurons or whether maternal deletion of affects somatosensory responses. Here, we found that is primarily expressed from the maternally inherited allele in myelinated large-diameter sensory neurons and biallelically expressed in unmyelinated small-diameter neurons. Nociceptive responses to select noxious thermal and mechanical stimuli were enhanced following global, but not sensory neuron-specific, deletion of maternal in mice. These data suggest that maternal loss of affects nociception via a central, but not peripheral mechanism, with implications for AS.
[Mh] Termos MeSH primário: Síndrome de Angelman/genética
Síndrome de Angelman/patologia
Modelos Animais de Doenças
Medição da Dor/métodos
Ubiquitina-Proteína Ligases/deficiência
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Animais
Feminino
Gânglios Espinais/patologia
Gânglios Espinais/fisiologia
Masculino
Camundongos
Camundongos Knockout
Medula Espinal/patologia
Medula Espinal/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.26 (Ube3a protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170922
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.1018-17.2017


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[PMID]:28898887
[Au] Autor:Ververi A; Islam L; Bewes B; Busby L; Sullivan C; Canham N
[Ad] Endereço:North West Thames Regional Genetics Service, London, UK.
[Ti] Título:Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
[So] Source:Cytogenet Genome Res;152(3):132-136, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is characterised by developmental delay, lack of speech, seizures, a characteristic behavioural profile with a happy demeanour, microcephaly, and ataxia. More than two-thirds of cases are due to an approximately 5-Mb interstitial deletion of the imprinted region 15q11.2q13, which is usually de novo. The rest are associated with point mutations in the UBE3A gene, imprinting defects, and paternal uniparental disomy. Small intragenic UBE3A deletions have rarely been described. They are usually maternally inherited, increasing the recurrence risk to 50%, and may be missed by conventional testing (methylation studies and UBE3A gene sequencing). We describe a boy with AS due to an 11.7-kb intragenic deletion. The deletion was identified by array-CGH and was subsequently detected in his affected first cousin and unaffected maternal grandfather, mother, and aunt, confirming the silencing of the paternal allele. The patient had developmental delay, speech impairment, a happy demeanour, microcephaly, and an abnormal EEG, but no seizures by the age of 4 years. Delineation of the underlying genetic mechanism is of utmost importance for reasons of genetic counselling, as well as appropriate management and prognosis. Alternative techniques, such as array-CGH and MLPA, are necessary when conventional testing for AS has failed to identify the underlying genetic mechanism.
[Mh] Termos MeSH primário: Síndrome de Angelman/genética
Éxons/genética
Herança Materna/genética
Deleção de Sequência
Ubiquitina-Proteína Ligases/genética
[Mh] Termos MeSH secundário: Alelos
Síndrome de Angelman/fisiopatologia
Braquidactilia/diagnóstico
Braquidactilia/genética
Braquidactilia/fisiopatologia
Pré-Escolar
Aberrações Cromossômicas
Cromossomos Humanos Par 15/genética
Dedos/anormalidades
Seres Humanos
Hipertelorismo/diagnóstico
Hipertelorismo/genética
Hipertelorismo/fisiopatologia
Deficiência Intelectual/genética
Masculino
Fenótipo
Estrabismo/diagnóstico
Estrabismo/genética
Estrabismo/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.26 (UBE3A protein, human); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171020
[Lr] Data última revisão:
171020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170913
[St] Status:MEDLINE
[do] DOI:10.1159/000480030


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[PMID]:28663201
[Au] Autor:Judson MC; Burette AC; Thaxton CL; Pribisko AL; Shen MD; Rumple AM; Del Cid WA; Paniagua B; Styner M; Weinberg RJ; Philpot BD
[Ad] Endereço:Department of Cell Biology and Physiology.
[Ti] Título:Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.
[So] Source:J Neurosci;37(31):7347-7361, 2017 Aug 02.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is a debilitating neurodevelopmental disorder caused by loss of function of the maternally inherited allele. It is currently unclear how the consequences of this genetic insult unfold to impair neurodevelopment. We reasoned that by elucidating the basis of microcephaly in AS, a highly penetrant syndromic feature with early postnatal onset, we would gain new insights into the mechanisms by which maternal loss derails neurotypical brain growth and function. Detailed anatomical analysis of both male and female maternal -null mice reveals that microcephaly in the AS mouse model is primarily driven by deficits in the growth of white matter tracts, which by adulthood are characterized by densely packed axons of disproportionately small caliber. Our results implicate impaired axon growth in the pathogenesis of AS and identify noninvasive structural neuroimaging as a potentially valuable tool for gauging therapeutic efficacy in the disorder. People who maternally inherit a deletion or nonfunctional copy of the gene develop Angelman syndrome (AS), a severe neurodevelopmental disorder. To better understand how loss of maternal function derails brain development, we analyzed brain structure in a maternal knock-out mouse model of AS. We report that the volume of white matter (WM) is disproportionately reduced in AS mice, indicating that deficits in WM development are a major factor underlying impaired brain growth and microcephaly in the disorder. Notably, we find that axons within the WM pathways of AS model mice are abnormally small in caliber. This defect is associated with slowed nerve conduction, which could contribute to behavioral deficits in AS, including motor dysfunction.
[Mh] Termos MeSH primário: Síndrome de Angelman/patologia
Axônios/patologia
Microcefalia/patologia
Fibras Nervosas/patologia
Ubiquitina-Proteína Ligases/genética
Substância Branca/patologia
[Mh] Termos MeSH secundário: Síndrome de Angelman/fisiopatologia
Animais
Feminino
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Microcefalia/fisiopatologia
Substância Branca/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.26 (Ube3a protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.0037-17.2017


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[PMID]:28592637
[Au] Autor:Berkowitz BA; Lenning J; Khetarpal N; Tran C; Wu JY; Berri AM; Dernay K; Haacke EM; Shafie-Khorassani F; Podolsky RH; Gant JC; Maimaiti S; Thibault O; Murphy GG; Bennett BM; Roberts R
[Ad] Endereço:Department of Anatomy and Cell Biology, Wayne State University School of Medicine, Detroit, Michigan, USA; baberko@med.wayne.edu.
[Ti] Título: imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome.
[So] Source:FASEB J;31(9):4179-4186, 2017 Sep.
[Is] ISSN:1530-6860
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hippocampus oxidative stress is considered pathogenic in neurodegenerative diseases, such as Alzheimer disease (AD), and in neurodevelopmental disorders, such as Angelman syndrome (AS). Yet clinical benefits of antioxidant treatment for these diseases remain unclear because conventional imaging methods are unable to guide management of therapies in specific hippocampus subfields that underlie abnormal behavior. Excessive production of paramagnetic free radicals in nonhippocampus brain tissue can be measured as a greater-than-normal 1/ that is quenchable with antioxidant as measured by quench-assisted (Quest) MRI. Here, we further test this approach in phantoms, and we present proof-of-concept data in models of AD-like and AS hippocampus oxidative stress that also exhibit impaired spatial learning and memory. AD-like models showed an abnormal gradient along the CA1 dorsal-ventral axis of excessive free radical production as measured by Quest MRI, and redox-sensitive calcium dysregulation as measured by manganese-enhanced MRI and electrophysiology. In the AS model, abnormally high free radical levels were observed in dorsal and ventral CA1. Quest MRI is a promising paradigm for bridging brain subfield oxidative stress and behavior in animal models and in human patients to better manage antioxidant therapy in devastating neurodegenerative and neurodevelopmental diseases.-Berkowitz, B. A., Lenning, J., Khetarpal, N., Tran, C., Wu, J. Y., Berri, A. M., Dernay, K., Haacke, E. M., Shafie-Khorassani, F., Podolsky, R. H., Gant, J. C., Maimaiti, S., Thibault, O., Murphy, G. G., Bennett, B. M., Roberts, R. imaging of prodromal hippocampus CA1 subfield oxidative stress in models of Alzheimer disease and Angelman syndrome.
[Mh] Termos MeSH primário: Doença de Alzheimer/diagnóstico por imagem
Síndrome de Angelman/diagnóstico por imagem
Região CA1 Hipocampal/patologia
Estresse Oxidativo/fisiologia
Sintomas Prodrômicos
[Mh] Termos MeSH secundário: Aldeído-Desidrogenase Mitocondrial/genética
Aldeído-Desidrogenase Mitocondrial/metabolismo
Doença de Alzheimer/patologia
Peptídeos beta-Amiloides/genética
Peptídeos beta-Amiloides/metabolismo
Síndrome de Angelman/patologia
Animais
Antioxidantes
Cálcio/metabolismo
Radicais Livres
Imagem por Ressonância Magnética/métodos
Manganês
Memória/fisiologia
Camundongos Knockout
Ubiquitina-Proteína Ligases/genética
Ubiquitina-Proteína Ligases/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Amyloid beta-Peptides); 0 (Antioxidants); 0 (Free Radicals); 42Z2K6ZL8P (Manganese); EC 1.2.1.3 (ALDH2 protein, mouse); EC 1.2.1.3 (Aldehyde Dehydrogenase, Mitochondrial); EC 2.3.2.26 (Ube3a protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases); SY7Q814VUP (Calcium)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1096/fj.201700229R


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[PMID]:28411125
[Au] Autor:Stoppel DC; Anderson MP
[Ad] Endereço:Departments of Neurology and Pathology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
[Ti] Título:Hypersociability in the Angelman syndrome mouse model.
[So] Source:Exp Neurol;293:137-143, 2017 Jul.
[Is] ISSN:1090-2430
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deletions and reciprocal triplications of the human chromosomal 15q11-13 region cause two distinct neurodevelopmental disorders. Maternally-derived deletions or inactivating mutations of UBE3A, a 15q11-13 gene expressed exclusively from the maternal allele in neurons, cause Angelman syndrome, characterized by intellectual disability, motor deficits, seizures, and a characteristic increased social smiling, laughing, and eye contact. Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone. Based on the unique sociability features reported in Angelman syndrome and the repressed sociability observed when Ube3a gene dosage is increased, we hypothesized that mice with neuronal UBE3A loss that models Angelman syndrome would display evidence of hypersocial behavior. We report that mice with maternally-inherited Ube3a gene deletion (Ube3a ) have a prolonged preference for, and interaction with, social stimuli in the three chamber social approach task. By contrast, interactions with a novel object are reduced. Further, ultrasonic vocalizations and physical contacts are increased in male and female Ube3a mice paired with an unfamiliar genotype-matched female. Single housing wild type mice increased these same social behavior parameters to levels observed in Ube3a mice where this effect was partially occluded. These results indicate sociability is repressed by social experience and the endogenous levels of UBE3A protein and suggest some social behavioral features observed in Angelman syndrome may reflect an increased social motivation.
[Mh] Termos MeSH primário: Síndrome de Angelman/complicações
Transtornos do Comportamento Social/etiologia
Ubiquitina-Proteína Ligases/deficiência
[Mh] Termos MeSH secundário: Análise de Variância
Síndrome de Angelman/genética
Animais
Modelos Animais de Doenças
Comportamento Exploratório/fisiologia
Feminino
Masculino
Camundongos
Camundongos Knockout
Atividade Motora/genética
Fatores de Tempo
Ubiquitina-Proteína Ligases/genética
Vocalização Animal/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.2.26 (Ube3a protein, mouse); EC 2.3.2.27 (Ubiquitin-Protein Ligases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170416
[St] Status:MEDLINE


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[PMID]:28211971
[Au] Autor:Le Fevre A; Beygo J; Silveira C; Kamien B; Clayton-Smith J; Colley A; Buiting K; Dudding-Byth T
[Ad] Endereço:Hunter Genetics, Newcastle, Australia.
[Ti] Título:Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature.
[So] Source:Am J Med Genet A;173(3):753-757, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability. Unlike typical AS syndrome, they can have a vocabulary up to 100 words and speak in sentences. Ataxia and seizures may not be present, and the majority of individuals do not have microcephaly. Here we review the current literature and present three individuals with atypical AS caused by a mosaic imprinting defect to demonstrate why DNA methylation analysis at the SNRPN locus needs to be considered in a broader clinical context. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Síndrome de Angelman/diagnóstico
Síndrome de Angelman/genética
Impressão Genômica
Mosaicismo
Fenótipo
[Mh] Termos MeSH secundário: Adolescente
Criança
Mapeamento Cromossômico
Metilação de DNA
Facies
Feminino
Estudos de Associação Genética
Heterogeneidade Genética
Seres Humanos
Incidência
Masculino
Proteínas Centrais de snRNP/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (snRNP Core Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38072


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[PMID]:28109989
[Au] Autor:Grocott OR; Herrington KS; Pfeifer HH; Thiele EA; Thibert RL
[Ad] Endereço:Angelman Syndrome Clinic and Center for Dietary Therapy of Epilepsy, Massachusetts General Hospital, Boston, MA, United States.
[Ti] Título:Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital.
[So] Source:Epilepsy Behav;68:45-50, 2017 Mar.
[Is] ISSN:1525-5069
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The low glycemic index treatment, a dietary therapy that focuses on glycemic index and reduced carbohydrate intake, has been successful in reducing seizure frequency in the general epilepsy population. Epilepsy is a common feature of Angelman syndrome and seizures are often refractory to multiple medications, especially in those with maternal deletions. Dietary therapy has become a more frequently used option for treating epilepsy, often in combination with other antiepileptic drugs, due to its efficacy and favorable side effect profile. This study aimed to assess the effectiveness of the low glycemic index treatment for seizure control in Angelman syndrome. Through a retrospective medical record review of 23 subjects who utilized the low glycemic index treatment at the Clinic and Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital, we found that the high level of seizure control and favorable side effect profile make the low glycemic index treatment a viable treatment for seizures in Angelman syndrome. The majority of subjects in our cohort experienced some level of seizure reduction after initiating the diet, 5 (22%) maintained complete seizure freedom, 10 (43%) maintained seizure freedom except in the setting of illness or non-convulsive status epilepticus, 7 (30%) had a decrease in seizure frequency, and only 1 (4%) did not have enough information to determine seizure control post-initiation. The low glycemic index treatment monotherapy was successful for some subjects in our cohort but most subjects used an antiepileptic drug concurrently. Some subjects were able to maintain the same level of seizure control on a liberalized version of the low glycemic index treatment which included a larger amount of low glycemic carbohydrates. No correlation between the level of carbohydrate restriction and level of seizure control was found. Few subjects experienced side effects and those that did found them to be mild and easily treated. The efficacy of the low glycemic index treatment and its favorable side effect profile make it an excellent alternative or supplement to antiepileptic drug therapy for the treatment of seizures in Angelman syndrome.
[Mh] Termos MeSH primário: Síndrome de Angelman/dietoterapia
Dieta Cetogênica
Índice Glicêmico
Convulsões/dietoterapia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Síndrome de Angelman/complicações
Criança
Pré-Escolar
Feminino
Seres Humanos
Masculino
Massachusetts
Estudos Retrospectivos
Convulsões/etiologia
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170123
[St] Status:MEDLINE


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[PMID]:28000035
[Au] Autor:Wagner C; Niemczyk J; Equit M; Curfs L; von Gontard A
[Ad] Endereço:Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany. catharina.wagner@uks.eu.
[Ti] Título:Incontinence in persons with Angelman syndrome.
[So] Source:Eur J Pediatr;176(2):225-232, 2017 Feb.
[Is] ISSN:1432-1076
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Angelman syndrome (AS) is a congenital syndrome with a prevalence of 1:15,000. Individuals with AS often have severe intellectual disability, typical dysmorphic signs, and behavioral problems. The aim of the study was to investigate the rate of incontinence and associated psychological problems in children and adults with AS. Ninety children (4-18 years) and 54 adults (18-31 years) with AS were recruited through a parent support group (55.6% male, mean age 15.1 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms (ICIQ-CLUTS), as well as the Developmental Behaviour Checklist for parents (DBC-P) or for adults (DBC-A) were filled out by parents or caregivers. 85.6% of individuals with AS were affected by at least one subtype of incontinence (82.7% nocturnal enuresis (NE), 64.7% daytime urinary incontinence (DUI), and 57.1% fecal incontinence (FI)). 52.5% of the children and 32.6% of adults reached a clinically relevant DBC score. Incontinence was not associated with behavioral problems. NE and DUI were associated with genotype and epilepsy. CONCLUSION: Children with AS have high rates of incontinence. Many adults are still affected by NE, DUI, or even FI. Screening, assessment, and treatment of incontinence in individuals with AS are recommended. What is Known: • Incontinence in persons with Angelman syndrome (AS) is associated with younger age, lower level of adaptive functioning, and epilepsy. What is New: • Children and teens with AS are at special risk for incontinence, but older persons are also affected. • Comorbid epilepsy is significantly associated not only with nocturnal enuresis (NE) but also with daytime urinary incontinence (DUI). Underlying genotype is significantly associated with incontinence.
[Mh] Termos MeSH primário: Síndrome de Angelman/complicações
Enurese Diurna/epidemiologia
Incontinência Fecal/epidemiologia
Enurese Noturna/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Fatores Etários
Síndrome de Angelman/psicologia
Criança
Pré-Escolar
Enurese Diurna/diagnóstico
Epilepsia/complicações
Epilepsia/epidemiologia
Incontinência Fecal/diagnóstico
Feminino
Seres Humanos
Incidência
Deficiência Intelectual/epidemiologia
Masculino
Enurese Noturna/diagnóstico
Pais
Índice de Gravidade de Doença
Transtornos do Sono-Vigília/epidemiologia
Estatísticas não Paramétricas
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1007/s00431-016-2828-1


  9 / 1062 MEDLINE  
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[PMID]:27892801
[Au] Autor:Buxbom P; Sonne-Holm S; Ellitsgaard N; Wong C
[Ad] Endereço:a Department of Orthopedics , Hvidovre University Hospital , Copenhagen , Denmark.
[Ti] Título:Stability and migration across femoral varus derotation osteotomies in children with neuromuscular disorders.
[So] Source:Acta Orthop;88(2):198-204, 2017 Apr.
[Is] ISSN:1745-3682
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background and purpose - Studies have indicated that one-third of children with cerebral palsy (CP) develop dislocation of the hip that needs surgical intervention. When hip dislocation occurs during childhood surgical treatment consists of tenotomies, femoral varus derotation osteotomy (VDRO), and acetabuloplasty. Relapse is observed in one-fifth of cases during adolescence. In this prospective cohort study, we performed a descriptive evaluation of translation and rotation across VDROs in children with neuromuscular disorders and syndromes by radiostereometric analysis (RSA). We assessed "RSA stability" and migration across the VDROs. Patients and methods - Children with a neuromuscular disorder were set up for skeletal corrective surgery of the hip. RSA follow-ups were performed postoperatively, at 5 weeks, and 3, 6, and 12 months after surgery. Results - 27 femoral VDROs were included; 2 patients were excluded during the study period. RSA data showed stability across the VDRO in the majority of cases within the first 5 weeks. At the 1-year follow-up, the mean translations (SD) of the femoral shaft distal to the VDRO were 0.51 (1.12) mm medial, 0.69 (1.61) mm superior, and 0.21 (1.28) mm posterior. The mean rotations were 0.39° (2.90) anterior tilt, 0.02° (3.07) internal rotation, and 2.17° (2.29) varus angulation. Interpretation - The migration stagnates within the first 5 weeks, indicating stability across the VDRO in most patients.
[Mh] Termos MeSH primário: Acetábulo/cirurgia
Paralisia Cerebral/complicações
Fêmur/cirurgia
Luxação do Quadril/cirurgia
Osteotomia/métodos
Tenotomia/métodos
[Mh] Termos MeSH secundário: Adolescente
Síndrome de Angelman/complicações
Criança
Pré-Escolar
Estudos de Coortes
Craniossinostoses/complicações
Feminino
Luxação do Quadril/etiologia
Seres Humanos
Deficiência Intelectual/complicações
Instabilidade Articular
Masculino
Estudos Prospectivos
Procedimentos Cirúrgicos Reconstrutivos/métodos
Síndrome de Rett/complicações
Rotação
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170417
[Lr] Data última revisão:
170417
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161129
[St] Status:MEDLINE
[do] DOI:10.1080/17453674.2016.1263110


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[PMID]:27984614
[Au] Autor:Shi S; Lin S; Liao Y; Li W
[Ad] Endereço:Fetal Medicine Center, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, China. mood0904@aliyun.com.
[Ti] Título:[Accurate detection of a case with Angelman syndrome (type 1) using SNP array].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;33(6):824-828, 2016 Dec 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation. METHODS: G-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of detected abnormality. Result of the SNP array was validated with fluorescence in situ hybridization (FISH). RESULTS: The SNP array has detected a 6.053 Mb deletion at 15q11.2q13.1 (22,770,421- 28,823,722) which overlapped with the critical region of AS (type 1). The parents of the child showed no abnormal results for G-banded karyotyping, SNP array and FISH analysis, indicating a de novo origin of the deletion. Mendelian error checking based on the SNP information suggested that the 15q11.2q13.1 deletion was of maternal origin. CONCLUSION: SNP array can accurately define the size, location and parental origin of chromosomal microdeletions, which may facilitate the diagnosis of AS due to 15q11q13 deletion and better understanding of its genotype-phenotype correlation.
[Mh] Termos MeSH primário: Síndrome de Angelman/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Criança
Genótipo
Seres Humanos
Cariotipagem/métodos
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161217
[St] Status:MEDLINE



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