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[PMID]:29237523
[Au] Autor:Lin SX; Shu JB; Wang C; Pan R; Meng YT; Zhang CH; Zhang BL; Wang D; Zhang YQ
[Ad] Endereço:Tianjin Children's Hospital, Tianjin 300074, China. zhangyuqin0809@sina.com.
[Ti] Título:[Clinical analysis of 15 851 children at risk of inherited metabolic diseases].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(12):1243-1247, 2017 Dec.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To explore the value of urine gas chromatography-mass spectrometry (GC-MS) in the screening of children at risk of inherited metabolic diseases (IMD), and to identify the disease spectrum of IMD and the clinical characteristics of children with IMD. METHODS: The clinical data of 15 851 children at risk of IMD who underwent urine GC-MS in the Tianjin Children's Hospital between February 2012 and December 2016 were retrospectively analyzed. RESULTS: In the 15 851 children, 5 793 (36.55%) were detected to have metabolic disorders. A total of 117 (0.74%) children were confirmed to have IMD, including 77 cases of methylmalonic acidemia (65.8%). The clinical manifestations of confirmed cases in the neonatal period mainly included jaundice, metabolic acidosis, abnormal muscular tension, feeding difficulty, poor response, and lethargy or coma. The clinical manifestations of confirmed cases in the non-neonatal period mainly included delayed mental and motor development, metabolic acidosis, convulsion, recurrent vomiting, and anemia. CONCLUSIONS: GC-MS is an effective method for the screening for IMD in children at risk. Methylmalonic acidemia is the most common IMD. The clinical manifestations of IMD are different between the confirmed cases in the neonatal and non-neonatal periods.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo/diagnóstico
[Mh] Termos MeSH secundário: Acidose/etiologia
Adolescente
Erros Inatos do Metabolismo dos Aminoácidos/complicações
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico
Criança
Pré-Escolar
Deficiências do Desenvolvimento/etiologia
Feminino
Cromatografia Gasosa-Espectrometria de Massas
Seres Humanos
Lactente
Recém-Nascido
Masculino
Erros Inatos do Metabolismo/complicações
Estudos Retrospectivos
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE


  2 / 17446 MEDLINE  
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[PMID]:29390378
[Au] Autor:Zhang Y; Lian Y; Xie N
[Ad] Endereço:Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
[Ti] Título:Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.
[So] Source:Medicine (Baltimore);96(50):e9273, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE. PATIENT CONCERNS: A 6-year-old girl developed epileptic seizures 3 days after birth. She presented with multiple seizure types including myoclonic seizures, spasms, and absence seizures. Serial electroencephalographic examinations showed variable abnormalities, and intellectual evaluation revealed significant development retardation. Conventional antiepileptic drugs were ineffective for the seizure controlling. Genetic screening identified a novel nonsense mutation (C.5G > A, p.W2X) in the GABRB3 gene. DIAGNOSES: Early onset epileptic encephalopathy. INTERVENTIONS: We changed the antiepileptic strategy to oral clonazepam (0.5mg twice daily). The patient was followed up once a week and significant declining in the attack frequency was noted 1 week later (2-3 times daily). Subsequently, the dosage was doubled (1mg twice daily), and complete cessation of seizures was achieved 20 days later. OUTCOMES: Through a 9-month follow up,the girl remained seizure-free. LESSONS: This study identified a novel nonsensemutation (C.5G>A) in the exon 1 of GABRB3 Gene, which may be associated with EOEE. To our knowledge, this is the first report to use clonazepam in the patient with GABRB3-related EOEE with favorable outcome. Our finding suggested that clonazepam might be a choice for patient with GABRB3-related EOEE. The remarkable efficacy of clonazepam in the control of seizures indicated a potential GABRB3- or GABA-related mechanism involved in the development of EOEE.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Clonazepam/uso terapêutico
Epilepsia/tratamento farmacológico
Epilepsia/genética
Receptores de GABA-A/genética
[Mh] Termos MeSH secundário: Idade de Início
Criança
Códon sem Sentido
Análise Mutacional de DNA
Deficiências do Desenvolvimento
Eletroencefalografia
Feminino
Predisposição Genética para Doença
Testes Genéticos
Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 0 (Codon, Nonsense); 0 (GABRB3 protein, human); 0 (Receptors, GABA-A); 5PE9FDE8GB (Clonazepam)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009273


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[PMID]:29390342
[Au] Autor:Zhang X; Zhou M; Yin H; Dai Y; Li Y
[Ad] Endereço:Department of Neonatology.
[Ti] Título:The predictive value of early oral motor assessments for neurodevelopmental outcomes of moderately and late preterm infants.
[So] Source:Medicine (Baltimore);96(50):e9207, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Oral motor assessment is used to identify abnormal sucking patterns which may reflect neurodevelopmental problems in preterm infants, but few studies have focused on moderately and late preterm infants. We enrolled 118 moderately and late preterm infants (mean gestational age, 35.04 weeks; mean birth weight, 2347.59 g) and analyzed the relationship between the Neonatal Oral-Motor Assessment Scale scores of these infants and the Chinese revision of Bayley Scales of Infant Development outcomes at 6 months corrected age. And the infants with abnormal sucking pattern had significantly lower Mental Development Index and Psychomotor Development Index and showed a higher rate of below average scores than control group (P = .003, P = .029, P = .022). The incoordination of suck-swallow-respiration was a risk factor for adverse neurodevelopment (RR = 3.67, 95% CI: 1.42-9.45). These indicate that abnormal sucking patterns in moderately and late preterm infants might provide some predictive value for short-term neurodevelopmental outcomes, but the clinical predictive value for developmental delay need to be determined in a longer term follow-up. This finding may offer a basis for early intervention.
[Mh] Termos MeSH primário: Deficiências do Desenvolvimento/diagnóstico
Deficiências do Desenvolvimento/fisiopatologia
Recém-Nascido Prematuro/crescimento & desenvolvimento
Desempenho Psicomotor/fisiologia
Comportamento de Sucção/fisiologia
[Mh] Termos MeSH secundário: China
Feminino
Idade Gestacional
Seres Humanos
Lactente
Masculino
Valor Preditivo dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009207


  4 / 17446 MEDLINE  
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[PMID]:29386446
[Au] Autor:Hirasawa K
[Ad] Endereço:Department of Pediatrics, Tokyo Women's Medical University.
[Ti] Título:[Topics on Child Development in Pediatrics].
[So] Source:Nihon Eiseigaku Zasshi;73(1):46-50, 2018.
[Is] ISSN:1882-6482
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Over the past few decades, advances in neonatal medicine have increased survival rates among very-low-birth-weight (VLBW) babies. Despite improvements in short-term outcomes, there is increasing concern about the probability of mild cognitive dysfunction in this population. Our analysis of VLBW babies born in our hospital revealed that the incidence of mild developmental disorders including autism spectrum disorder (ASD) and attention deficit hyperactive disorder (ADHD) at the age of 3 years is 7.2%, which is markedly higher than the 2.8% incidence of ASD in the general population. Because problems related to ASD or ADHD tend to become more prominent as children grow up, the ages at diagnosis of developmental disorders are generally 6 years or above. Thus, in our follow up study of VLBW babies at age 6, the incidence of these developmental disorders had risen to 30%. These patients are apparently obstinate and difficult to train, causing parental problems with child care. It is important to support these children and help them establish good relationships with their parents. Given these problems, it is necessary to follow up VLBW children in the longterm, at least until they are elementary school students.
[Mh] Termos MeSH primário: Transtorno do Deficit de Atenção com Hiperatividade
Transtorno do Espectro Autista
Disfunção Cognitiva
Deficiências do Desenvolvimento
Recém-Nascido de muito Baixo Peso
[Mh] Termos MeSH secundário: Fatores Etários
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia
Transtorno do Espectro Autista/epidemiologia
Criança
Pré-Escolar
Disfunção Cognitiva/epidemiologia
Deficiências do Desenvolvimento/epidemiologia
Intervenção Precoce (Educação)
Seguimentos
Seres Humanos
Incidência
Lactente
Recém-Nascido
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180202
[St] Status:MEDLINE
[do] DOI:10.1265/jjh.73.46


  5 / 17446 MEDLINE  
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Registro de Ensaios Clínicos
Registro de Ensaios Clínicos
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[PMID]:29320647
[Au] Autor:Bassler D; Shinwell ES; Hallman M; Jarreau PH; Plavka R; Carnielli V; Meisner C; Engel C; Koch A; Kreutzer K; van den Anker JN; Schwab M; Halliday HL; Poets CF; Neonatal European Study of Inhaled Steroids Trial Group
[Ad] Endereço:From the Department of Neonatology, University Hospital Zurich, University of Zurich, Zurich (D.B.), and the Division of Pediatric Pharmacology and Pharmacometrics, University of Basel Children's Hospital, Basel (J.N.A.) - both in Switzerland; Ziv Medical Center, Faculty of Medicine in the Galilee,
[Ti] Título:Long-Term Effects of Inhaled Budesonide for Bronchopulmonary Dysplasia.
[So] Source:N Engl J Med;378(2):148-157, 2018 01 11.
[Is] ISSN:1533-4406
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The long-term effects on neurodevelopment of the use of inhaled glucocorticoids in extremely preterm infants for the prevention or treatment of bronchopulmonary dysplasia are uncertain. METHODS: We randomly assigned 863 infants (gestational age, 23 weeks 0 days to 27 weeks 6 days) to receive early (within 24 hours after birth) inhaled budesonide or placebo. The prespecified secondary long-term outcome was neurodevelopmental disability among survivors, defined as a composite of cerebral palsy, cognitive delay (a Mental Development Index score of <85 [1 SD below the mean of 100] on the Bayley Scales of Infant Development, Second Edition, with higher scores on the scale indicating better performance), deafness, or blindness at a corrected age of 18 to 22 months. RESULTS: Adequate data on the prespecified composite long-term outcome were available for 629 infants. Of these infants, 148 (48.1%) of 308 infants assigned to budesonide had neurodevelopmental disability, as compared with 165 (51.4%) of 321 infants assigned to placebo (relative risk, adjusted for gestational age, 0.93; 95% confidence interval [CI], 0.80 to 1.09; P=0.40). There was no significant difference in any of the individual components of the prespecified outcome. There were more deaths in the budesonide group than in the placebo group (82 [19.9%] of 413 infants vs. 58 [14.5%] of 400 infants for whom vital status was available; relative risk, 1.37; 95% CI, 1.01 to 1.86; P=0.04). CONCLUSIONS: Among surviving extremely preterm infants, the rate of neurodevelopmental disability at 2 years did not differ significantly between infants who received early inhaled budesonide for the prevention of bronchopulmonary dysplasia and those who received placebo, but the mortality rate was higher among those who received budesonide. (Funded by the European Union and Chiesi Farmaceutici; ClinicalTrials.gov number, NCT01035190 .).
[Mh] Termos MeSH primário: Displasia Broncopulmonar/prevenção & controle
Budesonida/administração & dosagem
Deficiências do Desenvolvimento/epidemiologia
Glucocorticoides/administração & dosagem
Lactente Extremamente Prematuro
[Mh] Termos MeSH secundário: Administração por Inalação
Cegueira/epidemiologia
Paralisia Cerebral/epidemiologia
Transtornos Cognitivos/epidemiologia
Feminino
Seguimentos
Idade Gestacional
Perda Auditiva/epidemiologia
Seres Humanos
Recém-Nascido
Doenças do Prematuro/mortalidade
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glucocorticoids); 51333-22-3 (Budesonide)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180111
[Cl] Clinical Trial:ClinicalTrial
[St] Status:MEDLINE
[do] DOI:10.1056/NEJMoa1708831


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[PMID]:29220674
[Au] Autor:Cuvertino S; Stuart HM; Chandler KE; Roberts NA; Armstrong R; Bernardini L; Bhaskar S; Callewaert B; Clayton-Smith J; Davalillo CH; Deshpande C; Devriendt K; Digilio MC; Dixit A; Edwards M; Friedman JM; Gonzalez-Meneses A; Joss S; Kerr B; Lampe AK; Langlois S; Lennon R; Loget P; Ma DYT; McGowan R; Des Medt M; O'Sullivan J; Odent S; Parker MJ; Pebrel-Richard C; Petit F; Stark Z; Stockler-Ipsiroglu S; Tinschert S; Vasudevan P; Villa O; White SM; Zahir FR; Woolf AS; Banka S; DDD Study
[Ad] Endereço:Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK.
[Ti] Título:ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
[So] Source:Am J Hum Genet;101(6):1021-1033, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ACTB encodes ß-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, ß-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic ß-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, ß-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Actinas/genética
Deficiências do Desenvolvimento/genética
Haploinsuficiência/genética
[Mh] Termos MeSH secundário: Actinas/biossíntese
Adolescente
Adulto
Idoso
Animais
Ciclo Celular/genética
Proliferação Celular/genética
Criança
Pré-Escolar
Códon sem Sentido/genética
Coloboma/genética
Facies
Feminino
Mutação da Fase de Leitura/genética
Deleção de Genes
Seres Humanos
Lactente
Recém-Nascido
Deficiência Intelectual/genética
Masculino
Malformações do Desenvolvimento Cortical/genética
Camundongos
Interferência de RNA
RNA Interferente Pequeno/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ACTC1 protein, human); 0 (Actins); 0 (Codon, Nonsense); 0 (RNA, Small Interfering)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  7 / 17446 MEDLINE  
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[PMID]:28745216
[Au] Autor:Farmer M; Echenne B; Drouin R; Bentourkia M
[Ad] Endereço:Department of Nuclear Medicine and Radiobiology, 3001, 12th Avenue North, Sherbrooke (Qc) J1H 5N4. Canada.
[Ti] Título:Insights in Developmental Coordination Disorder.
[So] Source:Curr Pediatr Rev;13(2):111-119, 2017.
[Is] ISSN:1875-6336
[Cp] País de publicação:United Arab Emirates
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Developmental Coordination Disorder (DCD) is a neurological impairment occurring in nearly 6% of general population, and sometimes mimics other developmental disorders like Attention Deficit Hyperactivity Disorder (ADHD) or, in the most severe cases, intellectual deficiency. OBJECTIVES: To review the general portrait of DCD, the physiology, the clinical assessments, and to provide an overview of functional studies on the subject. We finally report some proposed DCD managements which vary depending on the manifestation of the disorder and on the goals of the therapy. RESULTS: DCD can be stated as a sum of fine motor, perceptual visual and executive difficulties, emerging during childhood brain development and lasting throughout adulthood. Even if DCD can be isolated from other co-morbidities in certain individuals, it is still difficult to categorize it in delimited subclasses of characteristics, e.g. problems of vision or language. The findings in functional imaging also diverge in locating the cerebral deficit for a given motor task. CONCLUSION: Finding a single explanation seems difficult as many cerebral regions are associated with DCD and many clinical aspects are involved, but, further studies could explore genetic (or epigenetic) explanation for the prevalence of DCD in population.
[Mh] Termos MeSH primário: Encéfalo/fisiopatologia
Deficiências do Desenvolvimento/diagnóstico
Transtornos das Habilidades Motoras/diagnóstico
[Mh] Termos MeSH secundário: Criança
Deficiências do Desenvolvimento/terapia
Feminino
Seres Humanos
Masculino
Transtornos das Habilidades Motoras/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.2174/1573396313666170726113550


  8 / 17446 MEDLINE  
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[PMID]:29390495
[Au] Autor:Mitroi AF; Aschie M; Apostol A; Brinzan C; Cozaru G; Mitroi AN
[Ad] Endereço:Department of Pathology, Emergency Clinical County Hospital of Constanta, Romania.
[Ti] Título:A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature.
[So] Source:Medicine (Baltimore);96(51):e9301, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: To date, >40 cases have been described with interstitial deletions involving the 4p15 region. PATIENT CONCERNS AND DIAGNOSIS: We report a case of a 3-year-old boy with an interstitial de novo deletion of approximately 13.34 Mb in 4p15.1-15.31 having mild developmental delay and multiple minor congenital abnormalities. LESSONS: This case presents a clinical manifestation that is similar but not identical to other reported cases. In this report, we have provided a detailed description of a 3-year-old patient with an interstitial 4p deletion and mildly affected phenotype. We discuss the possible involvement of SLIT2, KCNIP4, and LGI2 in cortical development and RBPJ in skeletal abnormalities.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Deleção Cromossômica
Cromossomos Humanos Par 4/genética
Deficiências do Desenvolvimento/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009301


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Melaragno, Maria Isabel
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[PMID]:29258104
[Au] Autor:Malinverni ACM; Yamashiro Coelho ÉM; Chen K; Colovati ME; Soares Pinho Cernach MC; Bragagnolo S; Melaragno MI
[Ad] Endereço:Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
[Ti] Título:Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature.
[So] Source:Cytogenet Genome Res;153(2):81-85, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12;21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Manchas Café com Leite/genética
Deleção Cromossômica
Cromossomos Humanos Par 21/ultraestrutura
Face/anormalidades
Hipertonia Muscular/genética
[Mh] Termos MeSH secundário: Cromossomos Humanos Par 21/genética
Deficiências do Desenvolvimento/genética
Feminino
Perda Auditiva Bilateral/genética
Seres Humanos
Recém-Nascido
Cariotipagem
Fenótipo
Escoliose/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.1159/000485282


  10 / 17446 MEDLINE  
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[PMID]:29198724
[Au] Autor:Tan TY; Gonzaga-Jauregui C; Bhoj EJ; Strauss KA; Brigatti K; Puffenberger E; Li D; Xie L; Das N; Skubas I; Deckelbaum RA; Hughes V; Brydges S; Hatsell S; Siao CJ; Dominguez MG; Economides A; Overton JD; Mayne V; Simm PJ; Jones BO; Eggers S; Le Guyader G; Pelluard F; Haack TB; Sturm M; Riess A; Waldmueller S; Hofbeck M; Steindl K; Joset P; Rauch A; Hakonarson H; Baker NL; Farlie PG
[Ad] Endereço:Victorian Clinical Genetics Services, Melbourne, VIC 3052, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: tiong.tan@vcgs.org.au.
[Ti] Título:Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
[So] Source:Am J Hum Genet;101(6):985-994, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-ß-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals from eight unrelated families that share features of short stature, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. De novo occurrence and autosomal-dominant inheritance of variants, including paternal mosaicism in two affected sisters who inherited a BMP2 splice-altering variant, were observed across all reported families. Additionally, we observed similarity to the human phenotype of short stature and skeletal anomalies in a heterozygous Bmp2-knockout mouse model, suggesting that haploinsufficiency of BMP2 could be the primary phenotypic determinant in individuals with predicted truncating variants and deletions encompassing BMP2. These findings demonstrate the important role of BMP2 in human craniofacial, skeletal, and cardiac development and confirm that individuals heterozygous for BMP2 truncating sequence variants or deletions display a consistent distinct phenotype characterized by short stature and skeletal and cardiac anomalies without neurological deficits.
[Mh] Termos MeSH primário: Proteína Morfogenética Óssea 2/genética
Anormalidades Craniofaciais/genética
Deficiências do Desenvolvimento/genética
Nanismo/genética
Haploinsuficiência/genética
Cardiopatias Congênitas/genética
[Mh] Termos MeSH secundário: Animais
Osso e Ossos/embriologia
Criança
Pré-Escolar
Cromossomos Humanos Par 20/genética
Fissura Palatina/genética
Modelos Animais de Doenças
Feminino
Coração/embriologia
Seres Humanos
Lactente
Masculino
Camundongos
Camundongos Knockout
Fator de Crescimento Transformador beta/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BMP2 protein, human); 0 (Bone Morphogenetic Protein 2); 0 (Transforming Growth Factor beta)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE



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