A multicenter survey on nurses'knowledge and practice of children's sleep management in pediatric ICU / 中华护理杂志

Objective To investigate the current status of nurses'knowledge,attitude and practice regarding sleep management of critically ill children in pediatric ICU,and to analyze its impact factors.Methods A self-designed questionnaire on general information and a questionnaire on knowledge and practical behaviors of pediatric ICU nurses on child's sleep management were used.In March 2023,902 pediatric ICU nurses from 24 hospitals in China were surveyed using a convenient sampling method,and the impact factors were analyzed using multiple stepwise linear regression.Results 893 valid questionnaires were collected and the recovery rate of valid questionnaires was 99.00％.Nurses in pediatric ICU scored(33.71±7.76)in knowledge dimension,(37.38±4.86)in attitude dimension and(80.60±16.78)in practice dimension,with a total score of(151.78±24.27).The scores of knowledge and attitude,knowledge and practice,attitude and practice are all positively correlated(r=0.393,P＜0.001;r=0.495,P＜0.001;r=0.320,P＜0.001).The results of multiple stepwise linear regression analysis showed that gender,region,whether they had received sleep management training were the influencing factors of pediatric ICU nurses'total score of knowledge,attitude and practice towards children's sleep management(P＜0.05).Conclusion Nurses in pediatric ICU are positive about sleep management for critically ill children,but their knowledge and practice levels need to improve.Nursing managers should strengthen the theoretical knowledge and practical behavioral training of pediatric ICU nurses on child sleep management,develop scientific sleep management plans,and guide nurses to make reasonable evaluation and interventions to improve children's sleep quality.

Clinical characteristics and genetic analysis of a case with adult neuronal ceroid lipofuscinosis type 7 due to variant of MFSD8 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variants in a patient with adult ceroid lipofuscinosis neuronal type 7 (ACLN7).@*METHODS@#A female patient diagnosed with ACLN7 in Henan Provincial People's Hospital in June 2021 was selected as the study subject. Clinical data, auxiliary examination and result of genetic testing were retrospectively analyzed.@*RESULTS@#The patient, a 39-year-old female, has mainly presented progressive visual loss, epilepsy, cerebellar ataxia and mild cognitive decline. Neuroimaging analysis has revealed generalized brain atrophy, prominently cerebellum. Fundus photography has revealed retinitis pigmentosa. Ultrastructural skin examination has revealed granular lipofuscin deposits in the periglandular interstitial cells. Whole exome sequencing revealed that she has harbored compound heterozygous variants of the MSFD8 gene, namely c.1444C>T (p.R482*) and c.104G>A (p.R35Q). Among these, c.1444C>T (p.R482*) was a well established pathogenic variant, while c.104G>A (p.R35Q) was a missense variant unreported previously. Sanger sequencing confirmed that the daughter, son and elder brother of the proband have respectively carried heterozygous c.1444C>T (p.R482*), c.104G>A (p.R35Q), and c.104G>A (p.R35Q) variants of the same gene. The family has therefore fit with the autosomal recessive inheritance pattern of the CLN7.@*CONCLUSION@#Compared with previously reported cases, this patient has the latest onset of the disease with a non-lethal phenotype. Her clinical features have involved multiple systems. Cerebellar atrophy and fundus photography may be indicative of the diagnosis. The c.1444C>T (p.R482*) and c.104G>A (p.R35Q) compound heterozygous variants of the MFSD8 gene probably underlay the pathogenesis in this patient.

Evidence summary of non-pharmacological sleep management measures in critically ill children / 中华护理杂志

Objective To retrieve,appraise and integrate the relevant evidence of non-pharmacological sleep management measures in critically ill children.Methods We conducted a systematical search on the topic of non-pharmacological sleep management measures in critically ill children across multiple databases,including BMJ best practice,UpToDate,International Guidelines International Network,National Institute for Health and Care Excellence,Scottish Intercollegiate Guidelines Network,Registered Nurses'Association of Ontario,Joanna Briggs Institute Library,the American Academy of Sleep Medicine,International Pediatric Sleep Association,CNKI,WanFang database,VIP database,SinoMed,Cochrane Library,PubMed,Web of Science,and CINAHL.The literature retrieval time limit was from the establishment of the database to February 2023.The study design includes clinical practice guideline,evidence summary,clinical decision-making,expert consensus,and systematic review.The evidence was extracted and summarized according to the subject after the independent literature quality evaluation by 2 researchers.Results 10 relevant pieces of literature were identified,including 2 guidelines,1 consensus statement,4 systematic reviews,2 evidence summaries,and 1 top clinical decision.These sources provided a total of 28 pieces of evidence across 5 key themes,including sleep assessment,management principles and education,environmental management and sleep promotion.Conclusion This study summarizes the best available evidence on non-pharmacological sleep management measures in critically ill children.It is recommended that healthcare professionals should consider the clinical context when implementing evidence-based interventions,aiming to reduce nocturnal awakenings,extend sleep duration,and improve sleep quality in critically ill children.