BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene / 中华预防医学杂志

This study aims to analyze the clinical characteristics and genetic variations of two cases with developmental delay and lactic acidosis in a family, and to explore the relationship between genetic variations and clinical features. A retrospective analysis was conducted on the clinical characteristics of two siblings with developmental delay and lactic acidosis who were treated at the Neonatal Department of Children's Hospital of Chongqing Medical University in May 2019 and December 2021, respectively. Whole-exome sequencing was used to detect genetic variations in the affected children. Homology modeling of the BCS1L protein was performed to analyze the structural and functional changes of the protein. The correlation between genetic variations and clinical phenotypes was analyzed. The results showed that the main clinical features of the two affected children in this family were manifestations of mitochondrial respiratory chain complex Ⅲ deficiency, including prematurity, developmental delay, respiratory failure, lactic acidosis, cholestasis, liver dysfunction, renal tubular lesions, coagulation dysfunction, anemia, hypoglycemia, hypotonia, and early death. Whole-exome sequencing revealed a novel deletion mutation c.486_488delGGA (p.E163del) and a novel missense mutation c.992C>T (p.T331I) in the BCS1L gene. Structural analysis of the homology modeling showed that the compound heterozygous mutation had a significant impact on protein function. In conclusion, the novel mutation site c.992C>T (p.T331I) in the BCS1L gene is a "likely pathogenic" mutation, and the compound heterozygous mutation is closely related to the phenotype of mitochondrial respiratory chain complex Ⅲ deficiency.

Association between body mass index and lung function in children with asthma after corticosteroids inhalation / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the association between body mass index (BMI) and lung function of asthmatic children after inhaling corticosteroids (ICS).</p><p><b>METHODS</b>One hundred and fifty-seven children with asthma were classified into obese (46 cases), over-weight (50 cases) and normal-weight groups (61 cases) based on BMI. All of the children received ICS for one year. Pulmonary functions were evaluated before and after treatment. Large airway function includes forced expiratory volume in one second (FEV1%) and forced vital capacity (FVC%). Small airway function includes maximal expiratory flow 25 (MEF25%) and maximal expiratory flow 50 (MEF50%).</p><p><b>RESULTS</b>The bronchial provocation test before treatment showed that the decline rate of pulmonary function (FVC%, FEV1%, MEF25% and MEF50%) in the obese group was higher than the normal-weight group after methacholine inhalation. After salbutamol inhalation, the improvement rate of the large airway (FVC%) and small airway (MEF25% and MEF50%) functions in the obese group was lower than the normal-weight group, and the improvement rate of small airway (MEF25% and MEF50%) function in the over-weight group was lower than in the normal-weight group. After treatment with ICS for one year, large airway function (FVC% and FEV1%) in the normal-weight group was higher than pre-treatment, however only FVC% in the normal-weight and obese groups was higher than pre-treatment. There was no significant difference in small airway function before and after treatment in all three groups.</p><p><b>CONCLUSIONS</b>Obesity can increase the sensitivity to methacholine and restrain the sensitivity to tosalbutamol in children with asthma. ICS can improve the large airway function in asthmatic children with normal body weight, but has no effect on small airway function. Obesity can restrain the effect of ICS on asthmatic children.</p>