Biomarkers of pediatric obstructive sleep apnea syndrome and the assessment of quality of life before and after adenotonsillectomy.

The study aims to explore the inflammatory cytokines and oxidative stress in children with obstructive sleep apnea syndrome (OSAS) triggered by adenoids and/or tonsillar hypertrophy and their changes after adenotonsillectomy (AT) and to investigate the associated behavioral disorders in OSAS, before and after AT. Thirty patients with OSAS and 20 healthy children, aged 3 - 13 years were included in the study. According to apnea-hypopnea index (AHI), OSAS children were classified into 3 groups: mild (n = 19), moderate (n = 5), and severe OSAS (n = 6). Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), interleukin (IL)-6, tumor necrosis factor (TNF)-α, malondialdehyde (MDA) and antioxidant enzymes activities were assessed in serum, preoperative and 6 weeks after AT. TNF-α, IL-6 and malondialdehyde levels were also estimated in adenoid and tonsils tissues. A Pediatric Sleep Questionnaire was completed by the parents before and after AT. As a result of the study, we obtained the following results: TNF-α, IL-6 and malondialdehyde evaluated preoperative increased in serum and tissues in OSAS, especially in severe disease compared to mild and moderate forms. Six weeks after AT, AHI diminished significantly in OSAS, as well as the inflammatory markers and malondialdehyde, in parallel with significant improvement of antioxidant enzymes activities. Daytime sleepiness, hyperactivity and attention deficit in OSAS, even in mild disease were present, with significant improvements of obstructive symptoms after AT. We conclude that OSAS caused by adenoids and/or tonsillar hypertrophy led to changes in the blood parameters, with significant improvement after AT. Postoperatively, a significant improvement in sleep quality and behavior in OSAS patients was also observed.

Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.

OBJECTIVE: In Central and South-Eastern European countries, the most frequent mutation types responsible for congenital nonsyndromic sensorineural hearing loss (NSHL) are c.35delG and p.W24X (15-55.8% and 2.5-4.3%, respectively). The aim of the study was to determine for the first time in Romania the prevalence of c.35delG and p.W24X mutations in patients with NSHL. MATERIAL: 75 unrelated children with NSHL from Transylvania (North-West Romania). METHODS: a. Audiological examination (otoscopy, tympanogram, acoustic otoemission and tonal audiogram or auditory evoked potentials); b. detection of the c.35delG (semi-nested-PCR, RFLP and ARMS-PCR analysis) and p.W24X (ARMS-PCR analysis) mutations. RESULTS: Audiological examination allowed the diagnosis of hearing loss of various degrees: moderate in 8 patients (10.7%), severe in 14 cases (18.7%), profound in 53 patients (70.6%). The number of reported mutation cases as against the number of alleles indicates a 33.3% frequency rate for c.35delG mutation and respectively 5.3% for p.W24X mutation. All 22 patients with 35delG/c.35delG genotype (19 patients), c.35delG/p.W24X genotype (2 patients) or p.W24X/p.W24X genotype (1 patient) presented profound/severe hearing loss. CONCLUSION: Our study confirms that the frequency rate of the two mutations analyzed in patients with NSHL from North-West Romania is comparable to that seen in other Central and South-Eastern European countries. The homozygote or compound heterozygote states represent a major risk factor for profound or severe deafness. Audiological screening in newborns and genetic testing in confirmed congenital hypoacusis cases are compulsory for early therapeutic intervention (hearing prosthesis or cochlear implant) and genetic counselling.