Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.

Meta analysis of adenoid bacterial distribution in children with adenoid hypertrophy / 中国耳鼻咽喉头颈外科

OBJECTIVE To illuminate the adenoid bacteria distribution in children with adenoid hypertrophy. METHODS PubMed, Embash, Medline, CNKI, VIP Information and Wanfang data were searched for studies on the adenoid bacteria distribution and adenoid hypertrophy. Random effects meta-analysis was used to pool data. RESULTS Nine studies were included in this meta analysis. The pooled detection rates of haemophilus influenza, staphylococcus aureus and streptococcus pneumonia were 0.21 (95%CI, 0.09-0.32), 0.14 (95%CI, 0.09-0.20) and 0.15 (95%CI , 0.08-0.22) respectively. CONCLUSION Haemophilus influenzae, staphylococcus aureus, and streptococcus pneumoniae are three main kinds of pathogenic bacteria of adenoid hypertrophy in children.

Determinants of arterial distensibility in middle-age and elderly patients on the treatment of hemodialysis / 中华急诊医学杂志

Objective To evaluate arterial stiffness in middle-age and elderly patients on the treatment of hemodialysis and to investigate the risk factors of arterial stiffness. Method A total of 87 in middle-age and elderly patients on the treatment of hemodialysis were enrolled. The distensibility coefficient (DC) of the common carotid artery was evaluated by an ultrasonic phase-locked echo-tracking system. Serum albumin, total cholesterol (TC), high density lipoprotein (HDL), low density lipoprotein (LDL), triglyceride (TG), glucose, creatinine,calcium, phosphorus, and intact parathyroid hormone (iPTH) were determined with well established methods. Results The ages of 87 patients ranged from 45 to 81 years, and the duration of treatment with hemodialysis was varied from 3 to 204 months . The carotid DC was ( 13.39 ± 5.32 ) × 10-3/kPa in middle-age and elderly patients on hemodialysis. In stepwise multiple regression analysis, systolic blood pressure (β = -0.349, P ＜ 0.001), age (β=-0.323, P ＜ 0.001), diabetes (β =-0.195,P = 0.027), and serum calcium (β =-0.276,P =0.002) were independently correlated with carotid DC. Conclusions Systolic blood pressure, age, diabetic,serum calcium were independent determinants for arterial stiffness of carotid artery in middle-age and elderly patients on hemodialysis.