Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review / 소아과

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male, who was diagnosed with SCADD by newborn screening. Spectrometric screening for inborn errors of metabolism 72 hours after birth revealed an elevated butyrylcarnitine (C4) concentration of 2.25 µmol/L (normal, T (p.Pro55Leu) and c.1031A>G (p.Glu344Gly) on exons 2 and 9, respectively. The patient is now growing up, unretarded by symptoms such as seizure and developmental delay.

Antibiotic therapy decision and clinical outcome comparison based on serum procalcitonin in children with pneumonia

PURPOSE: It is difficult to differentiate between viral and bacterial pneumonia in children and to decide antibiotic therapy. Study was conducted to investigate the clinical usefulness of antibiotic therapy based on procalcitonin (PCT) in children diagnosed with viral pneumonia. METHODS: This study included 108 patients diagnosed with viral pneumonia. Patient's age, fever duration, hospital stay, and treatment progress were noted, and laboratory study including PCT levels were tested. In addition, Polymerase chain reaction was done to test for viruses. Patients were divided into PCT and non-PCT groups according to PCT level. And their clinical patterns, treatment outcome, antibiotic use, severity of complications were compared. RESULTS: The number of patients with respiratory syncytial virus (RSV) was 35 and 50, rhinovirus was 5 and 10 in PCT and non-PCT groups, respectively. Fever duration was longer by 2.5 days in PCT group than in the non-PCT group (P<0.001), but there was no difference in the duration of hospital stay (P=0.191). White blood cell and absolute neutrophil count levels were higher in the PCT group (P=0.013 and P<0.001, respectively). Use of antibiotic therapy was performed in group was on 22% and 90% of patients in the PCT and non-PCT groups, respectively showing a significant reduction in the frequency of antibiotic therapy in PCT group, without a significant difference in treatment outcome, despite more severe clinical signs (P<0.001). CONCLUSION: Antibiotic therapy based on serum PCT levels in children admitted for pneumonia can reduce the frequency of antibiotic therapy in viral pneumonia, without causing significantly different treatment outcome or complications.

The effect of organisational system on self-rated depression in a panel of male municipal firefighters

OBJECTIVES: The present study evaluated the effects of job stress, including organisational system to self-rated depression through a panel study of male municipal firefighters in the Republic of Korea. METHODS: A panel of 186 municipal firefighters reported self-rated depressive symptoms according to the Beck Depression Inventory (BDI). The effects of job stress were evaluated using the Korea Occupational Stress Scale, taken one year earlier and classified by the median value. Panel members were classified into Depression or Control groups according to BDI scores, with a cut-off level of \'over mild depression' in a follow-up survey. RESULTS: The Depression group included 17 (9.1%) workers. Firefighters who scored high on occupational system had an 8.3 times greater risk of being assigned to the Depression group than those who had not (adjusted odds ratio [OR] = 8.03, 95% confidence interval (CI) = [1.73-37.22]). In contrast, job stress from a \'difficult physical environment' revealed negative risks related to being classified in the Depression group (AOR = 0.20, 95% CI = [0.04-0.92]). CONCLUSIONS: Although the healthy worker effect may be involved, job stress based on perceptions of organisational system was a strong risk factor for depression. A comprehensive approach should be considered that encompasses social issues when assessing or mental health in high-risk groups, as well as the practical issue of physiochemical hazards.

A Case of Amyotrophic Lateral Sclerosis in an Equipment Maintenance Worker Exposed to Lead / 대한산업의학회지

OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving the upper and lower motor neuron of the brain and spinal cord, leading ultimately to death due to respiratory failure in most cases. The etiology of ALS is currently unknown, but several studies show that lead exposure might be one of the potential environmental causes of ALS. In this perspective, we introduce a case involving an ALS patient exposed to lead while maintaining mechanical equipment in a waste treatment plant. METHODS: The patient was interviewed and his medical records were investigated to confirm the final diagnosis of ALS. The results of his health examination and working environment measurement were reviewed in order to evaluate the relation of his work with ALS. We also performed an analysis of lead concentration from samples taken from his workplace when we visited the plant to survey the work environment. RESULTS: Based on the patient's clinical information, work environment, relatively high level of blood lead concentration, and several studies proposing the occupational relationship between lead and ALS, his ALS may possibly have been caused by lead exposure at his workplace. CONCLUSIONS: Given the recent situation where the causal association between lead exposure and ALS is still unclear, this case report could be used as a basis to support the relevance of lead exposure with ALS, and to help improve the health and work environment of other workers who are likely to be exposed to lead.