RESUMO
INTRODUCTION: Hypohidrotic ectodermal dysplasia is a genetic disorder characterized by diminished or a lack of sweating, congenital missing teeth, and sparse or absent hair. Three genes, EDA, EDAR, and EDARADD, all related to tumor necrosis factor signaling, have been reported as responsible genes for this disorder. Among them, the largest numbers of mutations have been identified in EDA, and only two mutations identified in EDARADD. MATERIALS AND METHODS: DNA analysis of EDA, EDAR, and EDARADD was performed on a Mongolian patient by polymerase chain reaction-direct sequencing. RESULTS: The 5-year-old Mongolian individual had no erupted deciduous or permanent teeth. A panoramic radiograph showed only one tooth in the right mandible. His hair and eyebrows were sparse, but he did not have a short stature. He showed diminished sweating. The nails of his fingers and toes were normal. Based on these conditions, he was diagnosed with hypohidrotic ectodermal dysplasia. There was no gene mutation of EDA or EDAR. A novel heterozygous variant (P121S; c.361C>T) was identified in the death domain of EDARADD (NM_080738). No other member of his family was affected, and this variant was not identified in his parents or maternal grandparents. CONCLUSION: This study reports an individual affected with hypohidrotic ectodermal dysplasia with a novel heterozygous P121S variant in the death domain of EDARADD.
Assuntos
Povo Asiático/genética , Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva/genética , Proteína de Domínio de Morte Associada a Edar/genética , Anodontia/etiologia , Anodontia/genética , Pré-Escolar , Doenças em Gêmeos , Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva/complicações , Humanos , Masculino , Linhagem , Mutação Puntual , Polimorfismo de Nucleotídeo ÚnicoRESUMO
A microcomputer control system has been developed for supplemental oxygen therapy of newborn infants. The system uses feedback of arterial oxygen saturation to adjust the concentration of oxygen in the incubator or under the hood. The control system has been tested under different physiological conditions, using a detailed simulation model of the neonatal respiratory system. Some of the simulation results of this study are presented to illustrate the performance of the controller.