Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent...Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years,in addition to cholestasis that eventually became fatal.Genetic sequencing studies of the entire coding(exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation(S1012I) and a synonymous 696T>C mutation in ATP8B1.The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1(FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function.Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.展开更多
The siltation induced by wind waves in an entrance channel is one of the prime factors influencing the operation efficiency of a port. It is necessary to predict the siltation accurately for dredging and ship operatio...The siltation induced by wind waves in an entrance channel is one of the prime factors influencing the operation efficiency of a port. It is necessary to predict the siltation accurately for dredging and ship operation passing through the entrance of the port. However, it is difficult to apply the traditional method to predicting entrance siltation because of its complex computational procedure and lacking the data of ocean dynamic elements in the specified sea area. From the view of energy conservation, a direct relationship between wind conditions and sediment deposition can be founded. On the basis of the above methodology, an empirical formula expressed by wind conditions for forecasting the siltation in the entrance channel is set up. The wind conditions are easily obtained from the local meteorological stations or weather maps, so the formula established in this paper is more convenient and practical than the traditional method. A case study is provided, in which the emopirical formula is calibrated and verified utilizing the measured wind and siltation conditions in the entrance channel of the port. Comparisons between computed values and measured data show satisfactory aqreement.展开更多
文摘Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years,in addition to cholestasis that eventually became fatal.Genetic sequencing studies of the entire coding(exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation(S1012I) and a synonymous 696T>C mutation in ATP8B1.The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1(FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function.Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.
基金Supported by National Natural Science Foundation of China(No.50779045).
文摘The siltation induced by wind waves in an entrance channel is one of the prime factors influencing the operation efficiency of a port. It is necessary to predict the siltation accurately for dredging and ship operation passing through the entrance of the port. However, it is difficult to apply the traditional method to predicting entrance siltation because of its complex computational procedure and lacking the data of ocean dynamic elements in the specified sea area. From the view of energy conservation, a direct relationship between wind conditions and sediment deposition can be founded. On the basis of the above methodology, an empirical formula expressed by wind conditions for forecasting the siltation in the entrance channel is set up. The wind conditions are easily obtained from the local meteorological stations or weather maps, so the formula established in this paper is more convenient and practical than the traditional method. A case study is provided, in which the emopirical formula is calibrated and verified utilizing the measured wind and siltation conditions in the entrance channel of the port. Comparisons between computed values and measured data show satisfactory aqreement.
