Objective： HPP （Hypophosphatasia） is a congenital disease characterized by a deficiency of tissue-specific ALP （alkaline phosphatase）, which causes the generation of abnormal bone and tooth tissue. The clinical m...Objective： HPP （Hypophosphatasia） is a congenital disease characterized by a deficiency of tissue-specific ALP （alkaline phosphatase）, which causes the generation of abnormal bone and tooth tissue. The clinical manifestations are variable, from neonatal forms with high mortality to milder adult forms with fractures and osteomalacia. The present study reports a clinical case of HPP, with emphasis on the physical characteristics and laboratory tests. The patient was attended at the medical genetics outpatient clinic of the Association of Parents and Friends of the Exceptional of Manaus （Associa？？o de Pais e Amigos dos Excepcionais-APAE/Manaus）. Methodology： For the case report, anamnesis, peripheral blood G-band karyotyping, Vitamin and ALP dosage and resonance examination were performed. Results： A.M.M.S, 9 years, non-consanguineous parents, no bone disease in the family, with one sister from the mother. Birth weight AGA without intercurrence. The patient presented a slight delay in psycho-motor development and was diagnosed with craniostenosis through CNS imaging examination. The physical examination, in addition to a short stature, showed dolichocephaly, frontal bossing, curved tibias and great dental compromise with many early cavities and loss of teeth. Laboratory evaluation： ALP dosage： 63/L （N = 69-325）; Vitamin B6 dosage： 27.4 （5.2-34.1）. The mother and the younger sister also had an ALP result below that expected for the age. Conclusions： The clinical phenotype and laboratory diagnosis of the patient were compatible with ICD Q78 HPP.展开更多
In the future, the power quality will decrease by the introduction of a lot of renewable energy sources. The topic of this research is a new method of operation of PCS （power conditioning systems） in the future dist...In the future, the power quality will decrease by the introduction of a lot of renewable energy sources. The topic of this research is a new method of operation of PCS （power conditioning systems） in the future distribution system. The purpose of this research is development of PCS with a function of improvement of the distribution system. Therefore, the authors propose a method of the power quality improvement of the distribution system by PCS. In addition, the authors construct the control logic to use in PCS The control logic suggests adding harmonic restraint function to conventional control. These were verified by simulation and an experiment. As the results, we confirmed that basic operation of PCS being carried out, harmonics were restrained, and power quality had improved.展开更多
文摘Objective： HPP （Hypophosphatasia） is a congenital disease characterized by a deficiency of tissue-specific ALP （alkaline phosphatase）, which causes the generation of abnormal bone and tooth tissue. The clinical manifestations are variable, from neonatal forms with high mortality to milder adult forms with fractures and osteomalacia. The present study reports a clinical case of HPP, with emphasis on the physical characteristics and laboratory tests. The patient was attended at the medical genetics outpatient clinic of the Association of Parents and Friends of the Exceptional of Manaus （Associa？？o de Pais e Amigos dos Excepcionais-APAE/Manaus）. Methodology： For the case report, anamnesis, peripheral blood G-band karyotyping, Vitamin and ALP dosage and resonance examination were performed. Results： A.M.M.S, 9 years, non-consanguineous parents, no bone disease in the family, with one sister from the mother. Birth weight AGA without intercurrence. The patient presented a slight delay in psycho-motor development and was diagnosed with craniostenosis through CNS imaging examination. The physical examination, in addition to a short stature, showed dolichocephaly, frontal bossing, curved tibias and great dental compromise with many early cavities and loss of teeth. Laboratory evaluation： ALP dosage： 63/L （N = 69-325）; Vitamin B6 dosage： 27.4 （5.2-34.1）. The mother and the younger sister also had an ALP result below that expected for the age. Conclusions： The clinical phenotype and laboratory diagnosis of the patient were compatible with ICD Q78 HPP.
文摘In the future, the power quality will decrease by the introduction of a lot of renewable energy sources. The topic of this research is a new method of operation of PCS （power conditioning systems） in the future distribution system. The purpose of this research is development of PCS with a function of improvement of the distribution system. Therefore, the authors propose a method of the power quality improvement of the distribution system by PCS. In addition, the authors construct the control logic to use in PCS The control logic suggests adding harmonic restraint function to conventional control. These were verified by simulation and an experiment. As the results, we confirmed that basic operation of PCS being carried out, harmonics were restrained, and power quality had improved.
