Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including devel...Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.展开更多
Objective To analyze heart rate variability (HRV)and its changes with thyroxine treatment in patients with hypothyroidism. Methods HRV was analyzed using 24-hour electrocardiographic recording in 38 patients with hy...Objective To analyze heart rate variability (HRV)and its changes with thyroxine treatment in patients with hypothyroidism. Methods HRV was analyzed using 24-hour electrocardiographic recording in 38 patients with hypothyroidism and 21 normal controls. The changes in HRV were evaluated for the 18 hypothyroid patients after 3 months of thyroxine therapy.Results The time domain measurements of HRV in hypothyroid patients were much lower than those in the control group. As to HRV frequency domain, the high frequency power was significantly higher, but the ratio of low frequency power to frequency power for hypothyroid patients was lower than in the controls. These abnormal changes of HRV measurements in hypothyroid patients were improved after treatment with thyroxine and were associated with recovery of serum concentrations of FT3 and FT4. Conclusions Patients with hypothyroidism often have autonomic neuropathies with a higher level of vagal tone. These abnormalities could be partly improved by thyoxine therapy.展开更多
文摘Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.
文摘Objective To analyze heart rate variability (HRV)and its changes with thyroxine treatment in patients with hypothyroidism. Methods HRV was analyzed using 24-hour electrocardiographic recording in 38 patients with hypothyroidism and 21 normal controls. The changes in HRV were evaluated for the 18 hypothyroid patients after 3 months of thyroxine therapy.Results The time domain measurements of HRV in hypothyroid patients were much lower than those in the control group. As to HRV frequency domain, the high frequency power was significantly higher, but the ratio of low frequency power to frequency power for hypothyroid patients was lower than in the controls. These abnormal changes of HRV measurements in hypothyroid patients were improved after treatment with thyroxine and were associated with recovery of serum concentrations of FT3 and FT4. Conclusions Patients with hypothyroidism often have autonomic neuropathies with a higher level of vagal tone. These abnormalities could be partly improved by thyoxine therapy.
