Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

BACKGROUND Hereditary spastic paraplegias (HSPs) refer to a group of heterogeneous neurodegenerative diseases characterized by lower limbs spasticity and weakness. So far, over 72 genes have been found to cause HSP (SPG1-SPG72). Among autosomal dominant HSP patients, spastic paraplegia 4 (SPG4/SPAST) gene is the most common pathogenic gene, and atlastin-1 (ATL1) is the second most common one. Here we reported a novel ATL1 mutation in a Chinese spastic paraplegia 3A (SPG3A) family, which expands the clinical and genetic spectrum of ATL1 mutations. CASE SUMMARY A 9-year-old boy with progressive spastic paraplegia accompanied by right hearing loss and mental retardation for five years was admitted to our hospital.Past history was unremarkable. The family history was positive, and his grandfather and mother had similar symptoms. Neurological examinations revealed hypermyotonia in his lower limbs, hyperreflexia in knee reflex, bilateral positive Babinski signs and scissors gait. The results of blood routine test, liver function test, blood glucose test, ceruloplasmin test and vitamin test were all normal. The serum lactic acid level was significantly increased. The testing for brainstem auditory evoked potential demonstrated that the right side hearing was impaired while the left was normal. Magnetic resonance imaging showed mild atrophy of the spinal cord. The gene panel test revealed that the proband carried an ATL1 c.752A>G p.Gln251Arg (p.Q251R) mutation, and Sanger sequencing confirmed the existence of family co-segregation. CONCLUSION We reported a novel ATL1 Q251R mutation and a novel clinical phenotype of hearing loss in a Chinese SPG3A family.

A Study on the Relationship Among Nurses' Practice Environment, Safety Attitude, and Occupational Wellbeing

Objective:To investigate the status quo of nursing practice environment,nurses'safety attitude,and occupational well-being,as well as to explore the relationship among the three,so as to provide reference for formulating and implementing corresponding measures.Methods:A cross-sectional survey was conducted from October 2021 to December 2021.A total of 1,939 nurses from five tertiary hospitals in a city were surveyed using the Nurses5 Practice Environment Assessment Scale,Safety Attitudes Questionnaire,and Medical WorkersJ Occupational Wellbeing Scale.The data were analyzed using SPSS 22.0.Results:The total score of nurses5 practice environment was 68.81±27.79 points,which is at a relatively general level;the total score of nurses'safety attitude was 111.28±14.38 points,which is at a moderate level;and the total score of occupational well-being was 62.43±28.17 points,which is relatively high.There was a significant positive correlation between nurses'practice environment and their safety attitudes and occupational well-being(p<0.05).Conclusion:Nurses are the main human resources in hospitals,and their practice environment is closely related to patient safety and their work enthusiasm.An unhealthy practice environment not only affects the quality of care,which leads to patient safety issues,but also their job satisfaction.Nurse managers are encouraged to implement targeted interventions in advance to improve nurses,practice environment,strengthen safety attitudes,and enhance the professional wellbeing of nurses.