RESUMO
BACKGROUND: Sotos syndrome is an autosomal dominant disorder, whereas attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition. This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty. CASE SUMMARY: The patient presented with accelerated growth and advanced skeletal maturation; however, she lacked any distinct facial characteristics related to specific genetic disorders. Genetic analyses revealed a paternally inherited heterozygous synonymous mutation [c.4605C>T (p.Arg1535Arg)]. Functional analyses suggested that this mutation may disrupt splicing, and bioinformatics analyses predicted that this mutation was likely pathogenic. After an initial diagnosis of Sotos syndrome, the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months. CONCLUSION: The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
RESUMO
OBJECTIVE: As a high-efficiency demanding department in a hospital, the outpatient pharmacy has a great need for quality improvement to provide superior medical service for patients. Little is known about the application of 5S management in a hospital pharmacy department. The aim of this study was to evaluate the impacts of 5S management on pharmaceutical service quality and staff capacity in the outpatient-emergency pharmacy. METHODS: We carried out a 5S project in the outpatient-emergency pharmacy at a local hospital that involved processes including waste elimination, workplace standardisation, and optimisation of workflow and staff quality, and then evaluated the effects of the project. RESULTS: The equipment and items in the outpatient-emergency pharmacy were sorted. All the drugs were categorised and put in order. The redesigned workspace and standardised workflow during the project improved the accuracy and efficiency of drug dispensing. The satisfaction rate of patients regarding the pharmaceutical service quality in the outpatient-emergency pharmacy was elevated, as well as the satisfaction rate of pharmacists about their work experiences. The optimisation of objective conditions also stimulated a positive working attitude and professional ability promotion of pharmacists in the outpatient-emergency pharmacy. CONCLUSIONS: In this study, the 5S management method has proven useful for quality and efficiency improvement in the outpatient-emergency pharmacy, and could be generalised to other departments in a hospital, which provides further evidence of the advantages of the Lean tool in healthcare system management.