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Neurodevelopmental delay
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Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
20p
vioraclene
31-03-2024
4
2
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De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder.
9p
vioraclene
31-03-2024
6
2
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Dravet syndrome is a severe epilepsy disorder characterized by drug-resistant seizures and cognitive dysfunction, often caused by SCN1A gene mutations. It leads to neurodevelopmental delays and motor, behavioral, and cognitive impairments, with a high mortality rate.
6p
vitiki
30-01-2024
4
2
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Cancer treatment during pregnancy is a growing problem especially now that women delay childbearing. Systemic treatment of these malignancies during pregnancy centers mainly on the anticancer drugs anthracyclines, widely used in treating hematological and breast cancer during pregnancy and sometimes associated with early and late toxicity for the fetus.
9p
vimanama2711
30-07-2020
15
2
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Most cases of neonatal central diabetes insipidus are caused by an injury, which often results in other handicaps in the patient. The infant’s prognosis will be determined by his or her own early age and disability as well as by the physician’s skill.
6p
virubber2711
21-03-2020
13
1
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Improved neonatal care has resulted in increased survival rates among infants born after only 22 gestational weeks, but extremely preterm children still have an increased risk of neurodevelopmental delays, learning disabilities and reduced cognitive capacity, particularly executive function deficits.
17p
vivalanbo2711
19-03-2020
10
0
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Preschool language and neurodevelopmental problems often persist and impede learning. The aims of the current study are to assess the uptake of a new universal 30 month health visitor contact and to quantify the prevalence of language delay and social/emotional difficulties.
7p
vinatri2711
29-02-2020
14
1
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Autism spectrum disorder (ASD) is a common neurodevelopmental disorder that lacks adequate screening tools, often delaying diagnosis and therapeutic interventions. Despite a substantial genetic component, no single gene variant accounts for >1 % of ASD incidence.
11p
vichengna2711
25-02-2020
14
0
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The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern.
7p
vidr2711
19-02-2020
10
1
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Patent ductus arteriosus (PDA), the most commonly diagnosed cardiovascular condition in preterm infants, is associated with increased mortality and harmful long-term outcomes (chronic lung disease, neurodevelopmental delay).
17p
virome2711
13-01-2020
13
0
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Congenital cytomegalovirus (cCMV) infection leads to sensorineural hearing loss (SNHL) and neurodevelopmental delays. However, the long-term outcomes of cCMV infection with severe neurological manifestations in infancy remain unclear.
6p
vidublin2711
13-01-2020
11
1
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(BQ) Tài liệu Bayley III clinical use and interpretationprovides an introduction into use of theBayley-III in each of these five areas. For each of these areas, individual chapters cover the relevant test content, administration, scoring, interpretation, strengths/concerns, and uses in clinical populations. Each chapter also includes a real life case study demonstrating typical performance of a child with delays one of the five areas of development. The book concludes with a special chapter on procedures for brief neurodevelopmental screening of infants in pediatric settings.
243p
thuytrang_6
04-08-2015
48
4
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