Dystrophinopathies, including Duchenne muscular dystrophy, Becker muscular dystrophy and dilated cardiomyopathy, are X-linked recessive genetic disorders due to variants of the dystrophin gene, which can seriously affect quality of life and health. Genetic diagnosis plays a crucial role in their diagnosis, treatment, and prevention. How to rationally select and standardize the use of various genetic techniques is a skill that clinicians must acquire. By compiling expertise of experts from the relevant areas and guidelines published home and abroad, this consensus has provided a guidance from the perspective of genetic diagnosis for the selection of genetic techniques, testing strategies, and detection process for dystrophinopathies.
Humans ; Quality of Life ; Consensus ; Dystrophin/genetics* ; Muscular Dystrophy, Duchenne/therapy* ; Cardiomyopathy, Dilated/genetics* ; Electrocardiography

Neonates are vulnerable to greater damage in disasters and thus have special needs for equipment and medical staff. It is necessary to establish a regional neonatal transport network, in order to provide a platform for effective information communication and resource sharing. Neonatal care centers for critically ill neonates at all levels need to develop a disaster response plan for neonatal transport, and master this plan. In case of disasters, neonatal transport should be directed at the government level, in order to arrange emergency transport resources in a unified, reasonable and efficient way. Meanwhile, the psychological needs of family members and rescue staff should be taken into account.
Critical Illness ; Disaster Planning ; Emergency Medical Services ; Humans ; Infant, Newborn

Humans ; Infant, Newborn ; Lung ; Lung Diseases ; diagnostic imaging ; Ultrasonography

Child ; Consensus ; Haemophilus Infections ; diagnosis ; therapy ; Haemophilus influenzae ; Humans ; Infant

Child ; Consensus ; Flow Cytometry ; methods ; Humans ; Lymphocyte Count ; Lymphocyte Subsets ; Practice Guidelines as Topic ; T-Lymphocyte Subsets

Child ; Consensus ; Disease Management ; Disorders of Sex Development ; diagnosis ; therapy ; Gonadal Steroid Hormones ; administration & dosage ; therapeutic use ; Humans ; Practice Guidelines as Topic ; Risk Factors

Consensus ; Humans ; Nutritional Requirements ; Phenylalanine ; blood ; Phenylalanine Hydroxylase ; deficiency ; Phenylketonurias ; diagnosis ; diet therapy ; genetics ; Practice Guidelines as Topic