BackgroundPrimary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and situs inversus. Apart from the typical forms of PCD, rare syndromic PCD forms exist. Mutations of the X-linked OFD1 gene cause several syndromic ciliopathies, including oral-facial-digital syndrome type 1, Joubert syndrome type 10 (JBTS10), and Simpson-Golabi-Behmel syndrome type 2, the latter causing the X-linked syndromic form of PCD. Neurological and skeletal symptoms are characteristic for these syndromes, with their severity depending on the location of the mutation within the gene.ObjectivesTo elucidate the role of motile cilia defects in the respiratory phenotype of PCD patients with C-terminal OFD1 mutations.MethodsWhole-exome sequencing in a group of 120 Polish PCD patients, mutation screening of the OFD1 coding sequence, analysis of motile cilia, and magnetic resonance brain imaging.ResultsFour novel hemizygous OFD1 mutations, in exons 20 and 21, were found in men with a typical PCD presentation but without severe neurological, skeletal or renal symptoms characteristic for other OFD1-related syndromes. Magnetic resonance brain imaging in two patients did not show a molar tooth sign typical for JBTS10. Cilia in the respiratory epithelium were sparse, unusually long and displayed a defective motility pattern.ConclusionConsistent with the literature, truncations of the C-terminal part of OFD1 (exons 16–22) almost invariably cause a respiratory phenotype (due to motile cilia defects) while their impact on the primary cilia function is limited. We suggest that exons 20–21 should be included in the panel for regular mutation screening in PCD.

The hypothalamic amenorrhea in a patient with CED may be explained as a consequence of fat hypotrophy and very low body mass index. Therefore, impairment within hypothalamic-pituitary axis in patients with CED should be treated with special attention.

No abstract

Otitis media with effusion (OME) is a common childhood disease and the main cause of conductive hearing loss in this age group. Many factors predispose to OME but allergy is still widely disputed. The answer may lay in the molecular mechanisms of ear exudate formation and the recent studies showed miRNAs might take part in it. MiRNAs are also potent regulators of allergic response. As miRNAs are present in the middle ear, we hypothesized their expression differs between allergic and non-allergic patients and reflects the difference in pathomechanism of effusion formation between these two groups.Materials and methods: This study aimed to establish the expression of 5 different miRNAs (miR-223-3p, miR-451a, miR-16-5p, miR-320e, miR-25-3p) in ear exudates in children diagnosed with OME. The allergy group consisted of 18 patients whereas the non-allergic group had 36 patients. MicroRNA was isolated from the middle ear fluid collected during myringotomy and transcribed into cDNA. MiRNA expression was measured with TaqMan TM MicroRNA Assays and analyzed with DataAssist software. The comparative CT method was used for calculating the relative quantification of gene expression based on the endogenous control gene expression (U6 snRNA-001973).Results: MiR-320e expression was significantly decreased in allergic children with OME. Other studied miRNAs also showed reduced expression in allergic children, but the decrease was not significant.Conclusions: MiRNA expression differs between children with and without allergy in the course of OME, but further studies are needed to explain the exact role of miR-320e and its target genes in OME pathology in allergic patients.

No abstract

Toxic epidermal necrolysis (TEN) also known as Lyell’s Syndrome is a rare, acute hypersensitivity reaction characterized by cutaneous and mucosal necrosis. Lyell’s syndrome is self limited, but potentially recurrent disease. The mortality for toxic epidermal necrolysis is approaching to 30%.[1] Subglottic stenosis is the most common anomaly of larynx and trachea requiring tracheostomy in pediatric population. Subglottic part of larynx is the narrowest section of laryngotracheal area of airways in childhood.[5] It is estimated that most of subglottic stenosis cases is acquired and developed as a result of injury caused by long-term use of endotracheal tube. A 2-year-old patient admitted to our Clinic of Children’s Otolaryngology after long treatment for TEN because of problems with breathing without tracheostomy tube. Because of the results of bronchofiberoscopy patient has been sent to our Clinic of Children’s Otolaryngology. We performed laryngotracheoscopy which showed transglottic, subglottic and proximal part of tracheal stenosis and complete atresia of trachea above tracheostomy tube. Result of MRI examination was described as complete atresia of trachea which was 4 mm long and located above tracheostomy tube. Our patient was classified for open surgery intervention- partial cricotracheal resection with reconstruction (CTR). Latest improvements about construction of endotracheal tube and rules of procedures reduced frequency of subglottic stenosis to less than 1%.[11] There are no statistics or medical reports about tracheal atresia caused by intubation or Lyell’s syndrome. This situation forced us to recognise Lyell’s syndrome and endotracheal intubation overlapping on each other as a cause of medical state of our patient.

Nasal glial heterotopia is a rare congenital defect that is formed during embryological development. This lesion is part of a larger group of diseases, congenital midline nasal tumors, that occur with a frequency of once per 20,000-40,000 live births. Histologically, nasal glial heterotopia is a concentration of glial tissue which exhibits no malignant potential. We can differentiate three basic types of the disease based on the location of the lesion: 60% of nasal gliomas are extranasal, 30% are intranasal and only 10% combine extra- and intranasal components. Because of the rare occurrence correct diagnosis is quite difficult. We present a case of 2.5-month male who was admitted to the Department of Pediatric Otolaryngology for the diagnosis and treatment of a tumor deforming the bridge of his nose. Initial differential diagnosis included encephalocele, glial heterotopia (nasal glioma), angioma, nasal dorsal cyst, rhabdomyosarcoma, lacrimal duct cysts. We performed endoscopic examination, radiological imaging (CT, MRI) and histological assessment of lesion. The patient was diagnosed with nasal glial heterotopia (extra-and intranasal) based on diagnostic studies and clinical manifestation. The resection of the lesion was performed by means of dual access, external and endoscopic. The results of surgical treatment are satisfactory, control endoscopy showed no residual tumor presence.