Newborn screening, gene variation analysis and follow-up study of very long chain acyl CoA dehydrogenase deficiency / 中华实用儿科临床杂志

Objective:To investigate the prevalence, gene variation and prognosis of very long chain acyl CoA dehydrogenase deficiency (VLCADD) in newborns in Henan Province.Methods:From January 2013 to December 2019, 867 103 newborns were investigated for VLCADD by tandem mass spectrometry.Children who diagnosed as VLCADD and their families were subjected to next-generation sequencing and Sanger sequencing.Clinical data, biochemical changes and gene variation characteristics of the confirmed cases of VLCADD were analyzed.Dietary guidance was given, and their growth and development were followed up.Results:Six neonates were diagnosed as VLCADD, and the prevalence of VLCADD in the Henan Province was 1/144 517.A total of 11 mutations in the ACADVL gene were found, including 5 new variants c. 692-2_692-1delAG, c.753-23_753-22del, c.960delG, c.1361A>G, and c. 1955C>T.The newborns were given a high-carbohydrate, low-fat diet, and followed up for 8-56 months.Except for two deaths, all patients had a good outcome. Conclusions:The prevalence of neonatal VLCADD in Henan Province is 1/144 517.This results has enriched the ACADVL gene mutation spectrum and provided an important basis for the screening and diagnosis of VLCADD.

Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening / 中华医学遗传学杂志

Objective@#To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD).@*Methods@#From January 2013 to December 2017, 720 667 newborns and their mothers were tested for PCD by tandem mass spectrometry. Potential mutations of carnitine transporter gene SLC22A5 among suspected PCD patients were analyzed. Dietary guidance and L-carnitine supplementation were provided to the parents. Growth and intelligence development were surveyed during follow-up.@*Results@#In total 21 neonates and 6 mothers were diagnosed with PCD, which yielded an incidence of 1 in 34 317. Eighteen SLC22A5 mutations were detected, which included 4 novel mutations, namely c. 1484T>C, c. 394-1G>T, c. 431T>C and c. 265-266insGGCTCGCCACC. Eighteen patients were found to carry compound heterozygous mutations and 3 have carried homozygous SLC22A5 mutations. Three mothers carried compound heterozygous mutations and 2 carried homozygous mutations. Common mutations included c. 1400C>G (42.3%), c. 760C>T (11.5%) and c. 51C>G (7.7%). During the 8 ~ 42 month follow-up, neonates with PCD showed no clinical symptoms but normal growth. Blood level of free carnitine was raised in all mothers after the treatment.@*Conclusion@#The incidence of neonatal PCD in Henan is 1 in 34 317, with the most common mutation being c. 1400C>G. Above finding has enriched the spectrum of SLC22A5 gene mutations.

Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening / 中华医学遗传学杂志

OBJECTIVE@#To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD).@*METHODS@#From January 2013 to December 2017, 720 667 newborns and their mothers were tested for PCD by tandem mass spectrometry. Potential mutations of carnitine transporter gene SLC22A5 among suspected PCD patients were analyzed. Dietary guidance and L-carnitine supplementation were provided to the parents. Growth and intelligence development were surveyed during follow-up.@*RESULTS@#In total 21 neonates and 6 mothers were diagnosed with PCD, which yielded an incidence of 1 in 34 317. Eighteen SLC22A5 mutations were detected, which included 4 novel mutations, namely c.1484T>C, c.394-1G>T, c.431T>C and c.265-266insGGCTCGCCACC. Eighteen patients were found to carry compound heterozygous mutations and 3 have carried homozygous SLC22A5 mutations. Three mothers carried compound heterozygous mutations and 2 carried homozygous mutations. Common mutations included c.1400C>G (42.3%), c.760C>T (11.5%) and c.51C>G (7.7%). During the 8-42 month follow-up, neonates with PCD showed no clinical symptoms but normal growth. Blood level of free carnitine was raised in all mothers after the treatment.@*CONCLUSION@#The incidence of neonatal PCD in Henan is 1 in 34 317, with the most common mutation being c.1400C>G. Above finding has enriched the spectrum of SLC22A5 gene mutations.

Cognitive dysfunction and event-related potentials in patients with chronic fatigue syndrome / 中华行为医学与脑科学杂志

Cognitive dysfunction,as a common symptom among patients with chronic fatigue syndrome (CFS) and patients with fibromyalgia(FM),impacts on life quality,occupation and study of these patients.However,the neural correlates to the cognitive impairment are unknown.Event related potentials,which reflect the information processing objectively and constantly,provide possibility for taking a insight into and estimating the dysfunction.By summarizing and analyzing studies in event related potentials about chronic fatigue syndrome,fibromyalgia,we found that CFS patients were characterized with prolonged latency of N200 and P300 accompanied by decreased P300 amplitude when they performed on Oddball paradigm,fibromyalgia patients were characterized with lower P300 amplitude when they concentrated on Oddball task,meanwhile,fibromyalgia patients also showed decreased P100/N100,P200,P300,LPC in emotional word decision task and somatic pictures decision task.It's suggests that the cognitive dysfunction in CFS is mainly caused by slowed speed of information identification and classification,whereas in FM it's dysregulation in attention control system results in the cognitive dysfunction.Limitations in current studies and prospects on researches about cognitive dysfunction in CFS for future were also discussed.

Study on the health effect of the occupational stress in aircrew / 中华劳动卫生职业病杂志

Objective@#To explore the relationship between occupational stress and physiological and biochemical indexes, to research the health effect of the occupational stress in aircrew.@*Methods@#450 aircrews were conducted with the OSI-R questionnaire survey, examine the level of blood pressure, blood routine, ALT and UA.@*Results@#The concentration of HB was positively related with task conflict and entertainment and leisure (β=0.262 and 0.106, both P<0.05) , while heavy task, task discomfort and psychological stress reactions were negatively related with HB (β=-0.163, -0.102, and -0.137, all P<0.05) ; task conflict and self-care were positively related with RBC (β=0.221 and 0.159, both P<0.01) , heavy task, psychological stress reactions and social support were negatively related with RBC (β=-0.157, -0.119, and -0.113, all P<0.05) ; task ambiguity and self-care had a positive relationship with ALT (β=0.144 and 0.159, both P<0.01) while heavy task, psychological stress reactions and social support had a negative relationship with ALT (β=-0.176, -0.096, and -0.102, all P<0.05) ; self-care was positively related with SBP (β=0.170, P<0.01) , task discomfort, interpersonal stress reactions and social support were negatively related with SBP (β=-0.093, -0.103, and -0.111, all P<0.05) ; while self-care was positively related with DBP (β=0.139, P<0.01) , social support was negatively related with DBP (β=-0.114, P<0.05) .@*Conclusion@#Occupational stress of the aircrew is significantly related with blood pressure, RBC, ALT and UA, occupational stress can make effects on the health of aircrew.

Correlation between nurse occupational stress and salivary alpha-amylase: an analysis of 131 cases / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To explore the relationship between nurse occupational stress and salivary alpha- amylase (SAA).</p><p><b>METHODS</b>Evaluation of occupational stress was conducted in 131 nurses. The activity of SAA was determined using enzyme-linked immunosorbent assay (ELISA).</p><p><b>RESULTS</b>The activity of SAA in nurses varied with age and working years. The baseline, work period, recovery, average activities of >35 age group were less than those of ≤ 30 age group; work period, recovery, average activities of ≤ 10 years group were higher than other two groups; there was no statistical difference between SAA vitalities of different degree groups (P>0.05). In nurses with high scores for job demands, the activity of SAA in working period was significantly higher than that in nurses with low scores (P < 0.05). The baseline SAA activity in nurses with high scores for role conflict and ambiguity was significantly higherthan thatin nurses with low scores (P < 0.05). The baseline SAAactivity was positively correlated with workload, role conflict, and role ambiguity (P < 0.05). The activity of SAA in working period was negatively correlated with task control, decision control, and technology utilization (P < 0.05), and was positively correlated with quantitative load, load change, work monotony, and workload (P < 0.05). The activity of SAA in recovery period was negatively correlated with task control, decision control, resource control, and technology utilization (P < 0.01). The average activity of SAA was negatively correlated with task control, decision control, resource control, technology utilization, opportunity for participating in decision-making, and promotion (P < 0.05), and was positively correlated with quantitative load, load change, workload, and role ambiguity (P < 0.05).</p><p><b>CONCLUSION</b>The occupational stress in 131 nurses is correlated with the activity of SAA, which can be used as an objective biomarker for identification and evaluation of occupational stress.</p>

Analysis of correlation between occupational stress and serum monoamine neurotransmitters in nurses / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the impact of occupational stress on serum monoamine neurotransmitters in nurses.</p><p><b>METHODS</b>A total of 131 nurses were included as study subjects by stratified cluster sampling. The occupational health information collection system (based on the Internet of things) was used to measure occupational stress. Serum levels of monoamine neurotransmitters were also measured.</p><p><b>RESULTS</b>Epinephrine (E) was negatively correlated with superior support (P < 0.05) and colleague support (P < 0.05). Negative correlation was also found between dopamine (DA) and job prospect (P < 0.05). Level of 5-hydroxytryptamine was negatively correlated with promotion opportunities (P < 0.05). Norepinephrine (NE), E, and DA were all negatively correlated with work satisfaction (P < 0.05) and positively correlated with daily stress (P < 0.01). NE and E were negatively correlated with sufficient confidence (P < 0.05) and positively correlated with physical complaints (P < 0.01). There was a negative correlation between NE and psychological satisfaction (P < 0.05).</p><p><b>CONCLUSION</b>Occupational stress in nurses is correlated with serum monoamine neurotransmitters, and it may affect serum levels of monoamine neurotransmitters to a certain extent.</p>

Effect of occupational stress on oxidation/antioxidant capacity in nurses / 中华劳动卫生职业病杂志

<p><b>OBJECTIVE</b>To investigate the effect of occupational stress on the oxidation/antioxidant capacity in nurses.</p><p><b>METHODS</b>A total of 131 nurses were included as study subjects. The occupational health information collection system (based on the Internet of things) was used for measurement of occupational stress. Levels of hydroxyl free radicals and antioxidant enzymes were determined.</p><p><b>RESULTS</b>The serum level of superoxide dismutase (SOD) was the highest in nurses under the age of 30 and the lowest in those over 45 (P < 0.05). The serum levels of glutathione peroxidase (GSH-Px) and peroxidase (POD) were the highest in nurses of working age less than 5 years, followed by those of 5-15 years, and nurses with more than 25 years' working experience showed the lowest GSH-Px and POD levels (P < 0.05). Furthermore, nurses with a university (college) degree had a higher GSH-Px level and a lower POD level compared with those with junior and senior high school degrees (P < 0.05). Job prospects and job control were positive occupational stress factors for SOD. Job hazards were negative occupational stress factors for POD. Psychological satisfaction was negative occupational stress reaction for hydroxyl free radicals. Calmness was positive occupational stress reaction for SOD, and daily stress was a negative one. The positive occupational stress reactions for GSH-Px were psychological satisfaction and job satisfaction, and daily stress was negative reaction.</p><p><b>CONCLUSION</b>Nurses with higher occupational stress have stronger oxidation and weaker antioxidant capacity, which intensifies oxidant-antioxidant imbalance and leads to oxidative stress damage.</p>