ABSTRACT
In the past decade, significant progress has been made in the study of epilepsy-causing genetic mutations and the molecular mechanisms of epilepsy clinical manifestations.A growing number of studies have shown that the mechanism of action of pathogenic genes related to clinical symptoms shows significant correlation.In the selection of antiepileptic drugs for patients with different gene mutation, early identification of pathogenic genes has guiding significance for the selection of antiepileptic drugs.This review summairzes common epilepsy pathogenic genes, including ion channels genes, cellular metabolism related genes and cell signaling pathway related genes, and research progress on therapeutic targets corresponding to pathogenic genes in recent years.As research deepens, specific gene defects and their machanisms of action provide a basis for studying new treatment methods.
ABSTRACT
Ataxia-telangiectasia (AT) is a rare autosomal recessive genetic disorder resulting from ataxia-telangiectasia mutated(ATM) gene mutation.ATM involved in DNA repair.ATM is made up of 66 exons.Its mutation forms are complex, including nonsense mutation, missense mutation, shear site mutation, insertion and deletion, etc.The patients are characterized by progressive cerebellar atrophy and ataxia, disturbance of eye movement, telangiectasia and dystonia, a high risk of cancer and immunodeficiency.These patients are also hypersensitive to radiotherapy.AT is often neglected at the early stage.As pediatricians, we should pay attention to early ataxia and conduct genetic testing as early as possible to avoid radiation exposure.
ABSTRACT
Ataxia-telangiectasia (AT) is a rare autosomal recessive genetic disorder resulting from ataxia-telangiectasia mutated (ATM) gene mutation.ATM involved in DNA repair.ATM is made up of 66 exons.Its mutation forms are complex,including nonsense mutation,missense mutation,shear site mutation,insertion and deletion,etc.The patients are characterized by progressive cerebellar atrophy and ataxia,disturbance of eye movement,telangiectasia and dystonia,a high risk of cancer and immunodeficiency.These patients are also hypersensitive to radiotherapy.AT is often neglected at the early stage.As pediatricians,we should pay attention to early ataxia and conduct genetic testing as early as possible to avoid radiation exposure.
ABSTRACT
Metabolic bone disease of prematurity (MBDP) is an important chronic disease in the neonates. The metabolic abnormalities of calcium, phosphorus, vitamin D and others in premature can lead to decline of bone mineral content, decrease of trabecular bone quantity, thinning of cortical bone, etc., which can cause rickets in severe cases and even fracture. Low gestational age and low birth weight of premature are important risk factors for metabolic bone disease. The diagnosis relies on clinical features as well as laboratory, radiological and ultrasonographic examinations. The treatment includes reinforcement of the passive movement, supplementiation of the calcium, phosphorus and vitamin D, better prevention and so on. Early detection, early diagnosis, and early treatment can reduce the incidence of sequelae of metabolic bone disease, and reduce the long-term impact on premature infants.
ABSTRACT
Metabolic bone disease of prematurity (MBDP) is an important chronic disease in the neonates. The metabolic abnormalities of calcium, phosphorus, vitamin D and others in premature can lead to decline of bone mineral content, decrease of trabecular bone quantity, thinning of cortical bone, etc., which can cause rickets in severe cases and even fracture. Low gestational age and low birth weight of premature are important risk factors for metabolic bone disease. The diagnosis relies on clinical features as well as laboratory, radiological and ultrasonographic examinations. The treatment includes reinforcement of the passive movement, supplementiation of the calcium, phosphorus and vitamin D, better prevention and so on. Early detection, early diagnosis, and early treatment can reduce the incidence of sequelae of metabolic bone disease, and reduce the long-term impact on premature infants.