[Assessment of the risk of hearing loss in children with cystic fibrosis]. / Otsenka riska patologii slukha pri mukovistsidoze u detei.

BACKGROUND: Cystic fibrosis (CF) is a severe hereditary disease with a multisystem lesion. Manifestations of CF include severe infectious purulent lesions of all parts of the respiratory tract, including purulent rhinosinusitis with nasal polyps. The involvement of the sinonasal region and the need for systemic use of ototoxic drugs (primarily aminoglycosides to treat resistant bacterial infection) potentially create a risk of both conductive and sensorineural hearing loss (SNHL). The available data on the epidemiology of hearing disorders in CF is contradictory. Currently, genetic determinants of the development of aminoglycoside SNHL have been identified. MATERIAL AND METHODS: For 136 CF patients (75 girls, 61 boys) aged 3 to 17 (9.4±3.9) years were performed audiological examination: tympanometry, transient-evoked otoacoustic emission and the pure tone threshold audiometry (standard frequency range) (n=126). History of systemic therapy with aminoglycosides was evaluated for each patient. Sequencing of c.35delG mutations in the GJB2 gene (nuclear DNA) and A1555G in the 12S rRNA gene (mitochondrial DNA) was performed in 215 patients with cystic fibrosis (the group partially overlaps with the audiological group), and as a control - 106 children with bronchial asthma and 103 healthy children, their age ranged from 3 to 17 (8.8±3.8) years. RESULTS: Audiological examination of CF children reveled a prevalence of conductive hearing loss comparable to the general population (2.4%). The frequency of SNHL was 1.6%, wich exceeds that of non-CF children. A genetic study revealed one case of heterozygous carriage of the c.35delG mutation in the GJB2 gene in a patient with bronchial asthma. In the group of patients with CF (n=215), mutations in the connexin 26 gene were not detected. No A1555G mutation was detected either in the group of patients with CF or in the control groups. CONCLUSIONS: Children with CF are at risk for the development of sensorineural, but not conductive hearing loss. Routine total screening for A1555G and c.35delG mutations probably seems not to be recommended.

[Our experience in the treatment of congenital nasal median heterotopias in children and an overview of various treatment tactics]. / Nash opyt lecheniya vrozhdennykh nazal'nykh sredinnykh geterotopii u detei i obzor taktik lecheniya.

Dermoid nasal cysts (congenital nasal median heterotopias) are a rare congenital pathology in children. OBJECTIVE: Yo consider the clinical picture, methods of radiation diagnosis and to study the surgical results of a dermoid cyst of the nose according to the literature. MATERIALS AND METHODS: A retrospective review of medical histories with the diagnosis of "Dermoid cyst of the back of the nose and nasal cavity, epidermal cyst of the back of the nose, glioma, encephalocele" was conducted from 2017 to 2022 in the Pediatric Otorhinolaryngological Department of the National Medical Research Center for Otorhinolaryngology of the Federal Medical-Biological Agency of Russia. The case histories were analyzed by the nature of the lesion, the imaging techniques performed, the course of the operation and the results obtained. MATERIAL AND METHODS: A total of 16 medical histories were analyzed, the average age was 4.5 years (range 10 months - 15 years), over the past 5 years with a diagnosis of "Dermoid cyst of the nasal dorsum and nasal cavity, glioma, epidermal cyst of the nasal dorsum, encephalocele". All patients underwent magnetic resonance imaging (MRI) in the preoperative period, 14 patients also underwent computed tomography (CT). RESULT: Of these, 7 had a confirmed dermoid cyst with a fistula, 3 patients without a fistula, 3 patients had glioma, and 1 had encephalocele, 2 patients had an epidermoid cyst. A fistulous opening of the dermoid cyst of the nasal dorsum and nasal cavity was observed in the upper third of the nasal dorsum in 3 children, in the middle third in 2 patients and in the lower third in 2 children. The article presents a scheme for the characteristics of the lesion and the tactics of surgical treatment in comparison with the data of foreign authors. Intraoperatively, intracranial spread occurred in 6 patients. Various surgical approaches for intracranial proliferation and a corresponding literature review are also presented. Catamnestic follow-up ranged from 1 to 5 years (on average, 3.5 years), no relapses or postoperative complications were noted. CONCLUSION: Nasal median heterotopias are a rare congenital anomaly. Preoperative preparation should include CT and MRI to assess the lesion and exclude intracranial spread. The surgical approach depended directly on the localization of heterotopia and its spread. All patients had a good cosmetic result after the surgical treatment performed by us according to the author's method.

[Nasal glial heterotopia: Clinical and morphological characteristics]. / Kliniko-morfologicheskaia kharakteristika nazal'noi glial'noi geterotopii.

The paper describes a case of nasal glial heterotopia in a 10-month-old girl with a mixed (intranasal and subcutaneous) localization, which is accompanied by the divergence of the nasal bones. Histological examination supplemented by immunohistochemical reactions with antibodies to vimentin, S100 protein, neuron-specific enolase, as well as Ki-67 and smooth muscle actin confirmed the neural nature of the tumor. Fields of mature astrocytic glia including individual cells with neuronal differentiation were found among the fibrous and fibrovascular tissues. The paper provides a brief overview of the discussed pathology.