BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the ...BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense mutation.This observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously reported.CASE SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment.The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d.Ad-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited improvement.Whole exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical phenotype.However,the available informa-tion offers insufficient evidence for clinical pathogenicity.CONCLUSION Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment exists.Whole genome sequen-cing facilitates early diagnosis.展开更多
AIM: To investigate whether American ginseng (AG, Panax quinquefolium) supplementation was able to improve endurance exercise performance.METHODS: Thirteen physically active male college students were divided into two...AIM: To investigate whether American ginseng (AG, Panax quinquefolium) supplementation was able to improve endurance exercise performance.METHODS: Thirteen physically active male college students were divided into two groups (AG or placebo)and received supplementation for 4 wk, before the exhaustive running exercise. Treadmill speed was increased to a pace equivalent to 80% VO2max of the subject. A 4-wk washout period followed before the subjects crossed over and received the alternate supplement for the next 4 wk.They then completed a second exhaustive running exercise. The physiological variables that were examined included time to exhaustion and oxygen pulse. Moreover,the plasma creatine kinase (CK) and lactate were measured prior to the exercise, at 15 and 30 min during exercise,immediately after exercise, and 20, 40, 60, and 120 min after exercise.RESULTS: The major finding of this investigation was that the production plasma CK during the exercise significantly decreased for group AG than for group P. Secondary physiological finding was that 80% VO2max running was not improved over a 4-wk AG supplementation regimen.CONCLUSION: Supplementation with AG for 4 wk prior to an exhaustive aerobic treadmill running reduced the leakage of CK during exercise, but did not enhance aerobic work capacity. The reduction of plasma CK may be due to the fact that AG is effective for the decrease of skeletal muscle cell membrane damage, induced by exercise during the high-intensity treadmill run.展开更多
Summary： The effects of oligosaccharide and creatine （Cr） supplementation on glucose, lactic acid and urea nitrogen levels in blood and activity of serum creatine kinase （CK） were explored. Twenty CUBA male athle...Summary： The effects of oligosaccharide and creatine （Cr） supplementation on glucose, lactic acid and urea nitrogen levels in blood and activity of serum creatine kinase （CK） were explored. Twenty CUBA male athletes were divided into 4 groups： group A （supplementation of Cr alone）, group B （supplementation of oligosaccharide）, group C （supplementation of oligosaccharide and Cr） and group D （placebo control group）. By using orthogonal L4 table （2a ）, the experiment was performed. There were factors including oligosaccharide （carbohydrate, CHO）, Cr and their correlation. Each factor had two levels： supplementation and no-supplementation. The results showed that the supplementation of CliO or Cr alone, combined supplementation of CHO and Cr could significantly reduce the glucose, urea nitrogen levels in blood and serum CK activity after competition in the athletes. Moreover, the effects of combined supplementation of CHO and Cr were more satisfactory. It was concluded that supplementation of CliO and Cr could promote the recovery of physical performance and athletic abilities after athletics in basketball athletes.展开更多
BACKGROUND： Calcium antagonists may act as neuroprotectants, diminishing the influx of calcium ions through voltage-sensitive calcium channels. When administered prophylactically, they display neuroprotective effects...BACKGROUND： Calcium antagonists may act as neuroprotectants, diminishing the influx of calcium ions through voltage-sensitive calcium channels. When administered prophylactically, they display neuroprotective effects against hypoxic-ischemic brain damage in newborn rats. OBJECTIVE： To investigate the neuroprotective effects of flunarizine （FNZ）, lamotrigine （LTG） and the combination of both drugs, on hypoxic-ischemic brain damage in fetal rats. DESIGN AND SETTING： This randomized, complete block design was performed at the Department of Pediatrics, Shenzhen Fourth People＇s Hospital, Guangdong Medical College. MATERIALS： Forty pregnant Wistar rats, at gestational day 20, were selected for the experiment and were randomly divided into FNZ, LTG, FNZ ＋ LTG, and model groups, with 10 rats in each group. METHODS： Rats in the FNZ, LTG, and FNZ ＋ LTG groups received intragastric injections of FNZ （0.5 mg/kg/d）, LTG （10 mg/kg/d）, and FNZ （0.5 mg/kg/d） ＋ LTG （10 mg/kg/d）, respectively. Drugs were administered once a day for 3 days prior to induction of hypoxia-ischemia. Rats in the model group were not administered any drugs. Three hours after the final administration, eight pregnant rats from each group underwent model establishment hypoxia-ischemia brain damage to the fetal rats. Cesareans were performed at 6, 12, 24, and 48 hours later; and 5 fetal rats were removed from each mother and kept warm. Two fetuses without model establishment were removed by planned cesarean at the same time and served as controls. A total of 0.3 mL serum was collected from fetal rats at 6, 12, 24, and 48 hours, respectively, following birth. MAIN OUTCOME MEASURES： Serum protein concentrations of neuron-specific enolase and S-100 were measured by ELISA. Serum concentrations of brain-specific creatine kinase were measured using an electrogenerated chemiluminescence method. RESULTS： Serum concentrations of neuron-specific enolase, S-100, and brain-specific creatine kinase were significantly higher in the hypoxic-ischemic fetal rats, compared with the non-hypoxic-ischemic group. Serum concentrations of neuron-specific enolase, S-100, and brain-specific creatine kinase were significantly less in the FNZ, LTG, and FNZ ＋ LTG groups following ischemia, compared with the model group （P 〈 0.01）. However, these values were significantly greater in the FNZ and LTG groups, compared with the FNZ ＋ LTG group, following ischemia （P 〈 0.01）. CONCLUSION： Preventive antenatal use of oral FNZ and LTG has positive neuroprotective effects on intrauterine hypoxic-ischemic brain damage. The combined effect of these two drugs is superior.展开更多
Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.In the present retrospective case-control study,we included 582 pa...Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.In the present retrospective case-control study,we included 582 patients with amyotrophic lateral sclerosis and 582 age-and sexmatched healthy controls.All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology,West China Hospital,China,between May 2008 and December 2018.Serum creatine kinase levels in patients with amyotrophic lateral sclerosis were significantly higher than those in healthy controls.Subgroup analysis revealed that serum creatine kinase levels in men were higher than those in women in both amyotrophic lateral sclerosis patients and healthy controls.Compared with patients with bulbar-onset amyotrophic lateral sclerosis,patients with limb-onset amyotrophic lateral sclerosis had higher creatine kinase levels.Spearman's correlation analysis revealed that serum creatine kinase levels were not correlated with body mass index,Amyotrophic lateral Sclerosis Functional Rating ScaleRevised score,or progression rate.After adjusting for prognostic covariates,higher log creatine kinase values were correlated with higher overall survival in the amyotrophic lateral sclerosis patients.We also investigated the longitudinal changes in serum creatine kinase levels in 81 amyotrophic lateral sclerosis patients;serum creatine kinase levels were decreased at the second blood test,which was sampled at least 6 months after the first blood test.Together,our results suggest that serum creatine kinase levels can be used as an independent factor for predicting the prognosis of amyotrophic lateral sclerosis patients.This study received ethical approval from the Ethics Committee of West China Hospital,China(approval No.2015(236))on December 23,2015.展开更多
Objective To study the differential diagnosis on cerebral concussion and mild cerebral contusion value of the brain type creatine kinase isoenzyme(CK BB),and evaluate the seriousness of brain damage and prognosis of t...Objective To study the differential diagnosis on cerebral concussion and mild cerebral contusion value of the brain type creatine kinase isoenzyme(CK BB),and evaluate the seriousness of brain damage and prognosis of the patients with acute head injury.Methods Chromatographic separating and fluorometric quantifying technique was used to detect the CK BB activity in the cerebrospinal fluid(CSF) of 117 patients with acute head injury and 12 patients with increased intracranial pressure and 20 normal people.Results The CSF CK BB activity of the patients with acute head injury was remarkably higher than that of the normal people and the CSF CK BB activity increased with the seriousness of brain damage.There was a close relationship between CSF CK BB activity and prognosis,and higher activity of CSF CK BB indicated poor prognosis.Conclusion CSF CK BB activity could be used as a new index to diagnose brain damage and evaluate the seriousness of brain damage and prognosis.展开更多
Objective To observe the relationship between serum creatine kinase isoenzyme MM sub-bands (CKMM3/MM1 ratio) and the gradation of coronary stenosis and provide a simple, reliable, and economical method for identifying...Objective To observe the relationship between serum creatine kinase isoenzyme MM sub-bands (CKMM3/MM1 ratio) and the gradation of coronary stenosis and provide a simple, reliable, and economical method for identifying high-risk unstable angina pectoris (UAP). Mehtods Blood samples were drawn at different time after onset of chest pain in 21 patients with UAP and only once in 20 each volunteers for control. CKMM3/MM1 ratio was detected by nonserial buffer agarose gel electrophoresis. CKMB and CK were observed by velocity method. An emergent coronary arteriography was performed as soon as patients were admitted into hospital. Results Patients with UAP were divided into two subgroups: patients with elevated serum enzyme [P( + )] and patients with normal serum enzyme [P( - ) ] according to CKMM3/MM1 ratio < 0. 5. Patients with UAP( + ) had higher serum CKMM3/MM1 ratios from 0.5 to 12hrs and serum CKMB from 2 to 12 hrs than those with UAP( - ) and control ( P < 0. 05) . Serum enzyme concentrations of patients with UAP whose coronary lumen had 90% or more than 90% stenosis were significantly higher than those whose coronary lumen had less than 90% stenosis ( P <0. 01) . Any CK-MM3/MM1 ratio was less than 1. 0 and CK within the normal range in patients with UAP( + ) group. Conclusions CKMM3/MM1 ratios in patients with UAP can reflect severity of myocardial ischemia. SerumCKMM3/MM1 ratio provides a simple, reliable, and economical method for identifying high-risk UAP.展开更多
Objective:To assess the correlation of signs of myocardial damage to serum cardiac troponin I(cTnI)and creatine kinase MB isoenzyme(CK-MB)concentrations.Methods:Blood samples were collected from 25 term asphyxiated ne...Objective:To assess the correlation of signs of myocardial damage to serum cardiac troponin I(cTnI)and creatine kinase MB isoenzyme(CK-MB)concentrations.Methods:Blood samples were collected from 25 term asphyxiated neonates and 25 controls at 12 h of age by immunoassay.The asphyxiated neonates were followed up until discharge or death.Results:Asphyxiated neonates had significantly higher concentrations of cTnI and CK-MB than controls(P<0.001).Serum cTnI concentrations were significantly higher in asphyxiated neonates who developed hypotension,heart failure or those had low ejection fraction(P<0.01).Serum cTnI concentrations were significantly higher in asphyxiated who died than those who survived(P<0.01).There was no significant difference in serum CK-MB mass concentrations between asphyxiated neonates with and without these complications.Conclusion:Unlike CK-MB,serum cTnI concentrations are significantly higher in asphyxiated neonates who died or developed cardiac dysfunction.展开更多
基金Supported by The Suzhou Science and Technology Development Plan Guiding Project,No.SZSYYXH-2023-YB5The Suzhou Science and Technology Development Plan Project,No.SKY2023002The Suzhou Key Laboratory of Children's Structural Deformities,No.SZS2022018.
文摘BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 gene.In this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense mutation.This observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously reported.CASE SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive treatment.The chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 d.Ad-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited improvement.Whole exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical phenotype.However,the available informa-tion offers insufficient evidence for clinical pathogenicity.CONCLUSION Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment exists.Whole genome sequen-cing facilitates early diagnosis.
基金Supported by the Taiwan Biotech Co., Taiwan, China
文摘AIM: To investigate whether American ginseng (AG, Panax quinquefolium) supplementation was able to improve endurance exercise performance.METHODS: Thirteen physically active male college students were divided into two groups (AG or placebo)and received supplementation for 4 wk, before the exhaustive running exercise. Treadmill speed was increased to a pace equivalent to 80% VO2max of the subject. A 4-wk washout period followed before the subjects crossed over and received the alternate supplement for the next 4 wk.They then completed a second exhaustive running exercise. The physiological variables that were examined included time to exhaustion and oxygen pulse. Moreover,the plasma creatine kinase (CK) and lactate were measured prior to the exercise, at 15 and 30 min during exercise,immediately after exercise, and 20, 40, 60, and 120 min after exercise.RESULTS: The major finding of this investigation was that the production plasma CK during the exercise significantly decreased for group AG than for group P. Secondary physiological finding was that 80% VO2max running was not improved over a 4-wk AG supplementation regimen.CONCLUSION: Supplementation with AG for 4 wk prior to an exhaustive aerobic treadmill running reduced the leakage of CK during exercise, but did not enhance aerobic work capacity. The reduction of plasma CK may be due to the fact that AG is effective for the decrease of skeletal muscle cell membrane damage, induced by exercise during the high-intensity treadmill run.
文摘Summary： The effects of oligosaccharide and creatine （Cr） supplementation on glucose, lactic acid and urea nitrogen levels in blood and activity of serum creatine kinase （CK） were explored. Twenty CUBA male athletes were divided into 4 groups： group A （supplementation of Cr alone）, group B （supplementation of oligosaccharide）, group C （supplementation of oligosaccharide and Cr） and group D （placebo control group）. By using orthogonal L4 table （2a ）, the experiment was performed. There were factors including oligosaccharide （carbohydrate, CHO）, Cr and their correlation. Each factor had two levels： supplementation and no-supplementation. The results showed that the supplementation of CliO or Cr alone, combined supplementation of CHO and Cr could significantly reduce the glucose, urea nitrogen levels in blood and serum CK activity after competition in the athletes. Moreover, the effects of combined supplementation of CHO and Cr were more satisfactory. It was concluded that supplementation of CliO and Cr could promote the recovery of physical performance and athletic abilities after athletics in basketball athletes.
基金Shenzhen Science and Technology Bureau, No.200405204
文摘BACKGROUND： Calcium antagonists may act as neuroprotectants, diminishing the influx of calcium ions through voltage-sensitive calcium channels. When administered prophylactically, they display neuroprotective effects against hypoxic-ischemic brain damage in newborn rats. OBJECTIVE： To investigate the neuroprotective effects of flunarizine （FNZ）, lamotrigine （LTG） and the combination of both drugs, on hypoxic-ischemic brain damage in fetal rats. DESIGN AND SETTING： This randomized, complete block design was performed at the Department of Pediatrics, Shenzhen Fourth People＇s Hospital, Guangdong Medical College. MATERIALS： Forty pregnant Wistar rats, at gestational day 20, were selected for the experiment and were randomly divided into FNZ, LTG, FNZ ＋ LTG, and model groups, with 10 rats in each group. METHODS： Rats in the FNZ, LTG, and FNZ ＋ LTG groups received intragastric injections of FNZ （0.5 mg/kg/d）, LTG （10 mg/kg/d）, and FNZ （0.5 mg/kg/d） ＋ LTG （10 mg/kg/d）, respectively. Drugs were administered once a day for 3 days prior to induction of hypoxia-ischemia. Rats in the model group were not administered any drugs. Three hours after the final administration, eight pregnant rats from each group underwent model establishment hypoxia-ischemia brain damage to the fetal rats. Cesareans were performed at 6, 12, 24, and 48 hours later; and 5 fetal rats were removed from each mother and kept warm. Two fetuses without model establishment were removed by planned cesarean at the same time and served as controls. A total of 0.3 mL serum was collected from fetal rats at 6, 12, 24, and 48 hours, respectively, following birth. MAIN OUTCOME MEASURES： Serum protein concentrations of neuron-specific enolase and S-100 were measured by ELISA. Serum concentrations of brain-specific creatine kinase were measured using an electrogenerated chemiluminescence method. RESULTS： Serum concentrations of neuron-specific enolase, S-100, and brain-specific creatine kinase were significantly higher in the hypoxic-ischemic fetal rats, compared with the non-hypoxic-ischemic group. Serum concentrations of neuron-specific enolase, S-100, and brain-specific creatine kinase were significantly less in the FNZ, LTG, and FNZ ＋ LTG groups following ischemia, compared with the model group （P 〈 0.01）. However, these values were significantly greater in the FNZ and LTG groups, compared with the FNZ ＋ LTG group, following ischemia （P 〈 0.01）. CONCLUSION： Preventive antenatal use of oral FNZ and LTG has positive neuroprotective effects on intrauterine hypoxic-ischemic brain damage. The combined effect of these two drugs is superior.
基金supported by the National Natural Science Foundation of China,No.81301093(to XPC)。
文摘Creatine kinase is a muscle enzyme that has been reported at various levels in different studies involving patients with amyotrophic lateral sclerosis.In the present retrospective case-control study,we included 582 patients with amyotrophic lateral sclerosis and 582 age-and sexmatched healthy controls.All amyotrophic lateral sclerosis participants received treatment in the Department of Neurology,West China Hospital,China,between May 2008 and December 2018.Serum creatine kinase levels in patients with amyotrophic lateral sclerosis were significantly higher than those in healthy controls.Subgroup analysis revealed that serum creatine kinase levels in men were higher than those in women in both amyotrophic lateral sclerosis patients and healthy controls.Compared with patients with bulbar-onset amyotrophic lateral sclerosis,patients with limb-onset amyotrophic lateral sclerosis had higher creatine kinase levels.Spearman's correlation analysis revealed that serum creatine kinase levels were not correlated with body mass index,Amyotrophic lateral Sclerosis Functional Rating ScaleRevised score,or progression rate.After adjusting for prognostic covariates,higher log creatine kinase values were correlated with higher overall survival in the amyotrophic lateral sclerosis patients.We also investigated the longitudinal changes in serum creatine kinase levels in 81 amyotrophic lateral sclerosis patients;serum creatine kinase levels were decreased at the second blood test,which was sampled at least 6 months after the first blood test.Together,our results suggest that serum creatine kinase levels can be used as an independent factor for predicting the prognosis of amyotrophic lateral sclerosis patients.This study received ethical approval from the Ethics Committee of West China Hospital,China(approval No.2015(236))on December 23,2015.
文摘Objective To study the differential diagnosis on cerebral concussion and mild cerebral contusion value of the brain type creatine kinase isoenzyme(CK BB),and evaluate the seriousness of brain damage and prognosis of the patients with acute head injury.Methods Chromatographic separating and fluorometric quantifying technique was used to detect the CK BB activity in the cerebrospinal fluid(CSF) of 117 patients with acute head injury and 12 patients with increased intracranial pressure and 20 normal people.Results The CSF CK BB activity of the patients with acute head injury was remarkably higher than that of the normal people and the CSF CK BB activity increased with the seriousness of brain damage.There was a close relationship between CSF CK BB activity and prognosis,and higher activity of CSF CK BB indicated poor prognosis.Conclusion CSF CK BB activity could be used as a new index to diagnose brain damage and evaluate the seriousness of brain damage and prognosis.
文摘Objective To observe the relationship between serum creatine kinase isoenzyme MM sub-bands (CKMM3/MM1 ratio) and the gradation of coronary stenosis and provide a simple, reliable, and economical method for identifying high-risk unstable angina pectoris (UAP). Mehtods Blood samples were drawn at different time after onset of chest pain in 21 patients with UAP and only once in 20 each volunteers for control. CKMM3/MM1 ratio was detected by nonserial buffer agarose gel electrophoresis. CKMB and CK were observed by velocity method. An emergent coronary arteriography was performed as soon as patients were admitted into hospital. Results Patients with UAP were divided into two subgroups: patients with elevated serum enzyme [P( + )] and patients with normal serum enzyme [P( - ) ] according to CKMM3/MM1 ratio < 0. 5. Patients with UAP( + ) had higher serum CKMM3/MM1 ratios from 0.5 to 12hrs and serum CKMB from 2 to 12 hrs than those with UAP( - ) and control ( P < 0. 05) . Serum enzyme concentrations of patients with UAP whose coronary lumen had 90% or more than 90% stenosis were significantly higher than those whose coronary lumen had less than 90% stenosis ( P <0. 01) . Any CK-MM3/MM1 ratio was less than 1. 0 and CK within the normal range in patients with UAP( + ) group. Conclusions CKMM3/MM1 ratios in patients with UAP can reflect severity of myocardial ischemia. SerumCKMM3/MM1 ratio provides a simple, reliable, and economical method for identifying high-risk UAP.
文摘Objective:To assess the correlation of signs of myocardial damage to serum cardiac troponin I(cTnI)and creatine kinase MB isoenzyme(CK-MB)concentrations.Methods:Blood samples were collected from 25 term asphyxiated neonates and 25 controls at 12 h of age by immunoassay.The asphyxiated neonates were followed up until discharge or death.Results:Asphyxiated neonates had significantly higher concentrations of cTnI and CK-MB than controls(P<0.001).Serum cTnI concentrations were significantly higher in asphyxiated neonates who developed hypotension,heart failure or those had low ejection fraction(P<0.01).Serum cTnI concentrations were significantly higher in asphyxiated who died than those who survived(P<0.01).There was no significant difference in serum CK-MB mass concentrations between asphyxiated neonates with and without these complications.Conclusion:Unlike CK-MB,serum cTnI concentrations are significantly higher in asphyxiated neonates who died or developed cardiac dysfunction.
