To evaluate cardiopulmonary function, muscle strength, and cardiopulmonary fit ness (VO2peak) in patients with osteogenesis imperfecta (OI). In 17 patients wit h OI type I (mean age 13.3 ±3.9 years) cardiopulmona...To evaluate cardiopulmonary function, muscle strength, and cardiopulmonary fit ness (VO2peak) in patients with osteogenesis imperfecta (OI). In 17 patients wit h OI type I (mean age 13.3 ±3.9 years) cardiopulmonary function was assessed at rest using spirometry, plethysmography, electrocardiography, and echocardiogr aphy. Exercise capacity was measured using a maximal exercise test on a bicycle ergometer and an expired gas analysis system. Muscle strength in shoulder abduct ors, hip flexors, ankle dorsal flexor, and grip strength were measured. All resu lts were compared with reference values. Cardiopulmonary function at rest was wi thin normal ranges, but when it was compared with normal height for age and sex, vital capacities were reduced. Mean absolute and relative VO2 peak were respect ively-1.17 (±0.67) and-1.41 (±1.52) standard deviations lower compared w ith reference values (P < .01)-. Muscle strength also was significantly reduce d in patients with OI, ranging from-1.24 ±1.40 to-2.88 ±2.67 standard de viations lower compared with reference values. In patients with OI type I, no pu lmonary or cardiac abnormalities at rest were found. The exercise tolerance and muscle strength were significantly reduced in patients with OI, which might acco unt for their increased levels of fatigue during activities of daily living.展开更多
The past five years have witnessed the discovery of the endoplasmic reticulum calcium(Ca2+) sensor STIM1 and the plasma membrane Ca2+channel Orai1 as the bona fide molecular components of the store-operated Ca2+ entry...The past five years have witnessed the discovery of the endoplasmic reticulum calcium(Ca2+) sensor STIM1 and the plasma membrane Ca2+channel Orai1 as the bona fide molecular components of the store-operated Ca2+ entry(SOCE) and the Ca2+ release-activated Ca2+current(I CRAC) .It has been known for two decades that SOCE and ICRAC are required for lymphocyte activation as evidenced by severe immunodeficient phenotypes in patients lacking ICRAC.In recent years however,studies have uncovered expression of STIM1 and Orai1 proteins in various tissues and described additional roles for these proteins in physiological functions and pathophysiological conditions.Here,we will summarize novel findings pertaining to the role of STIM1 and Orai1 in the vascular system and discuss their potential use as targets in the therapy of vascular disease.展开更多
The ribosome is an ancient and conserved molecular machine responsible for translating mRNA into protein in all known organisms. The eukaryotic ribosome is com- posed of - 80 ribosomal proteins （RPs） and four riboso...The ribosome is an ancient and conserved molecular machine responsible for translating mRNA into protein in all known organisms. The eukaryotic ribosome is com- posed of - 80 ribosomal proteins （RPs） and four ribosomal RNAs （rRNAs）. These RNA and protein components are assembled within the nucleolus into the small 40S and large 60S subunits of the ribosome, through a process termed ribosome biogenesis. Ribosome biogenesis is a highly orchestrated and carefully controlled process that requires - 150 associated proteins and 70 small nucleolar RNAs （snoRNAs）, which assist in prerRNA transcription and maturation, ribosome component assembly, and trafficking to the cytosol. Defects in ribosome biogenesis resulting from mutations in biogenesis cofactors, or in ribosomal structural components themselves, cause a collection of human diseases termed ＂ribosomopathies＂.展开更多
文摘To evaluate cardiopulmonary function, muscle strength, and cardiopulmonary fit ness (VO2peak) in patients with osteogenesis imperfecta (OI). In 17 patients wit h OI type I (mean age 13.3 ±3.9 years) cardiopulmonary function was assessed at rest using spirometry, plethysmography, electrocardiography, and echocardiogr aphy. Exercise capacity was measured using a maximal exercise test on a bicycle ergometer and an expired gas analysis system. Muscle strength in shoulder abduct ors, hip flexors, ankle dorsal flexor, and grip strength were measured. All resu lts were compared with reference values. Cardiopulmonary function at rest was wi thin normal ranges, but when it was compared with normal height for age and sex, vital capacities were reduced. Mean absolute and relative VO2 peak were respect ively-1.17 (±0.67) and-1.41 (±1.52) standard deviations lower compared w ith reference values (P < .01)-. Muscle strength also was significantly reduce d in patients with OI, ranging from-1.24 ±1.40 to-2.88 ±2.67 standard de viations lower compared with reference values. In patients with OI type I, no pu lmonary or cardiac abnormalities at rest were found. The exercise tolerance and muscle strength were significantly reduced in patients with OI, which might acco unt for their increased levels of fatigue during activities of daily living.
基金supported by the National Institutes of Health(Grant No. 5R01HL097111)to Mohamed Trebak
文摘The past five years have witnessed the discovery of the endoplasmic reticulum calcium(Ca2+) sensor STIM1 and the plasma membrane Ca2+channel Orai1 as the bona fide molecular components of the store-operated Ca2+ entry(SOCE) and the Ca2+ release-activated Ca2+current(I CRAC) .It has been known for two decades that SOCE and ICRAC are required for lymphocyte activation as evidenced by severe immunodeficient phenotypes in patients lacking ICRAC.In recent years however,studies have uncovered expression of STIM1 and Orai1 proteins in various tissues and described additional roles for these proteins in physiological functions and pathophysiological conditions.Here,we will summarize novel findings pertaining to the role of STIM1 and Orai1 in the vascular system and discuss their potential use as targets in the therapy of vascular disease.
文摘The ribosome is an ancient and conserved molecular machine responsible for translating mRNA into protein in all known organisms. The eukaryotic ribosome is com- posed of - 80 ribosomal proteins （RPs） and four ribosomal RNAs （rRNAs）. These RNA and protein components are assembled within the nucleolus into the small 40S and large 60S subunits of the ribosome, through a process termed ribosome biogenesis. Ribosome biogenesis is a highly orchestrated and carefully controlled process that requires - 150 associated proteins and 70 small nucleolar RNAs （snoRNAs）, which assist in prerRNA transcription and maturation, ribosome component assembly, and trafficking to the cytosol. Defects in ribosome biogenesis resulting from mutations in biogenesis cofactors, or in ribosomal structural components themselves, cause a collection of human diseases termed ＂ribosomopathies＂.
