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Developmental delays
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Part 2 book "Step on to paediatrics" includes content: Jaundic, blood vomiting, lymph node enlargement; pallor or anaemia; pallor, bleeding and fever; bruising and bleeding; puffy face and scanty urine; smoky red urine, dysuria; excessive urine output (polyuria); sudden paralysis of limbs, convulsion; developmental delay; abnormal behaviour; short stature, difficulties in movement and posture; accidents and emergencies; parasitic infestations; common surgical problems of children; fluid, electrolytes and acid base homeostasis; instruments & procedures in paediatrics; model ospe for practice.
202p
zizaybay1101
30-04-2024
3
2
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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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Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
11p
vioraclene
31-03-2024
2
2
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Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors.
10p
vioraclene
31-03-2024
3
1
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Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A).
14p
vibransone
28-03-2024
2
1
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Recent studies have suggested that individual variants do not sufficiently explain the variable expressivity of phenotypes observed in complex disorders. For example, the 16p12.1 deletion is associated with developmental delay and neuropsychiatric features in affected individuals, but is inherited in > 90% of cases from a mildly-affected parent.
21p
vibransone
28-03-2024
8
2
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In China, ~1,072,100 small for gestational age (SGA) births occur annually. These SGA newborns are a high-risk population of developmental delay. Our study aimed to evaluate the genetic profile of SGA newborns in the newborn intensive care unit (NICU) and establish a prognosis prediction model by combining clinical and genetic factors.
15p
vicwell
29-02-2024
4
2
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Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males.
7p
vitiki
30-01-2024
4
2
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Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13). The main clinical features are hyperphagia (which frequently results in early-onset obesity), hypogonadism, developmental delays, typical behaviors (such as obsessive–compulsive tendencies, tantrums, perseveration, insistence on sameness, and rigidity), and distinctive facial features.
4p
vitiki
30-01-2024
4
2
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Part 2 book "Algorithms in pediatrics" includes content: Systemic hypertension, management of lower gastrointestinal bleed, acute liver failure, corrosive injury in children, chronic abdominal pain, approach to global developmental delay, acute flaccid paralysis, approach to a child with spastic paraplegia, acute glomerulonephritis, acute kidney injury, nephrotic syndrome in children,...and other contents.
464p
oursky03
28-08-2023
5
1
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Part 2 book "Nelson pediatric symptom based diagnosis" includes content: Abdominal masses, acute and chronic scrotal swelling, menstrual problems and vaginal bleeding, disorders of sex development, intellectual developmental disorders (developmental delay) neurocognitive and developmental regression, the irritable infant, emotional and behavioral symptoms, autistic like behaviors,... and other contents.
467p
oursky03
28-08-2023
4
1
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Nurturing care, including adequate nutrition, responsive caregiving and early learning, is critical to early childhood development. In Nepal, national surveys highlight inequity in feeding and caregiving practices for young children.
20p
viferrari
29-10-2022
10
2
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Transcriptome and proteome analyses on fruit pulp from the blood orange ‘Zaohong’ and the navel orange ‘twenty-first century’ were performed to study Citrus sinensis quality-related molecular changes during consecutive developmental periods, including young fruit, fruit-coloring onset and fruit delayed-harvest for two months, during which fruit remained on the trees.
13p
vilarryellison
29-10-2021
5
1
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Nutrition and cell size play an important role in the determination of caste differentiation in queen and worker of honeybees (Apis mellifera), whereas the haploid genome dominates the differentiation of drones. However, the effects of female developmental environment on the development of males remain unclear. In this study, young drone larvae were transferred into worker cells (WCs) or remained in drone cells (DCs) to rear drones.
12p
vitzuyu2711
29-09-2021
7
1
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Rotational acetabular osteotomy (RAO), Chiari osteotomy and shelf procedure are important treatments to delay the progression of osteoarthritis in developmental dysplasia of hip (DDH) patients, but their biomechanical differences are still unknown.
7p
viannito2711
20-04-2021
10
1
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Insect metamorphosis relies on temporal and spatial cues that are precisely controlled. Previous studies in Drosophila have shown that untimely activation of genes that are essential to metamorphosis results in growth defects, developmental delay and death.
19p
viwyoming2711
16-12-2020
12
1
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Mecp2 null mice model Rett syndrome (RTT) a human neurological disorder affecting females after apparent normal pre- and peri-natal developmental periods. Neuroanatomical studies in cerebral cortex of RTT mouse models revealed delayed maturation of neuronal morphology and autonomous as well as non-cell autonomous reduction in dendritic complexity of postnatal cortical neurons.
13p
vioklahoma2711
19-11-2020
8
2
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Young children with developmental disabilities and delays spend significant amounts of time at home, show decreased participation in home-based activities, and receive home-based early intervention services to improve participation in activities.
10p
vimanama2711
28-07-2020
11
1
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This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all patients and about the 90% of patients have a severe intellectual disability. Dental agenesis or other dental anomalies have not been described in previous reports.
7p
viorochimaru2711
29-05-2020
12
1
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