نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Identified in a category as hazardous, asbestos is one of the most dangerous materials for human health.It all living species if freely released particles from air are breathed into lungs.This mineral mainly used construction and automotive industry due to its ability strengthen fireproofmaterials. Up 1980s, has been strengthening widely theconstruction business buildings.The intention this pap...
Among all known birth defects, congenital heart disease (CHD) is the leading cause of death in infancy. In the United States, nearly 25% of children born with CHD will require surgery or treatment within their first year of life. Tremendous advances in surgical techniques and strategies have led to a dramatic increase in survival rates, even ≤90% in complex CHDs; today, most children born with ...
Astrocytes are no longer seen as a homogenous population of cells. In fact, recent studies indicate that astrocytes are morphologically and functionally diverse and play critical roles in neurodevelopmental diseases such as Rett syndrome and fragile X mental retardation. This review summarizes recent advances in astrocyte development, including the role of neural tube patterning in specificatio...
Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families. The 81 CMT families had pr...
Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abn...
Children with congenital heart disease (CHD) remain at high risk for long-term neurodevelopmental disabilities. Acute neurologic complications, such as seizures, transient ischemic attack, intracranial hemorrhage, and stroke may occur in the setting of cardiac surgery catheterization.
Successful treatment of many childhood diseases once considered terminal has resulted in the emergence of long-term effects of the disease or consequences of treatment that were previously unrecognized. Many of these long-term effects involve the central nervous system (CNS) and are developmental in the way that they emerge over time. Because we are now able to observe the natural history of ch...
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