Treatment of congenital nasal cavity stenosis by balloon dilatation in a newborn: a case report.

Neonates are obligate nasal breathers, and any form of neonatal nasal obstruction may have serious consequences. Prompt diagnosis and appropriate treatment are essential to avoid severe hypoxia. Congenital bony nasal stenosis (CBNS) is an extremely rare cause of neonatal nasal airway obstruction and can easily be confused with choanal atresia or stenosis. This is a paper to describe a balloon dilatation technique that can be an effective alternative to surgery for the treatment of congenital nasal cavity stenosis, with minimal stress to the patient.

Efficacy of nasopharyngeal culture in identification of pathogen in middle ear fluid in chronic otitis media with effusion.

PURPOSE: Chronic otitis media with effusion (OME) is the leading cause of hearing loss during childhood. In bacterial etiology of OME, the most frequent pathogens responsible are Haemophilus influenzae followed by Streptococcus pneumoniae and Moraxella catarrhalis. This study aimed at evaluating the accuracy of nasopharyngeal (NP) specimens in the identification of pathogens in the middle ear fluid (MEF) in patients with OME. MATERIALS AND METHODS: In this cross sectional, case-control study, 95 MEFs and 53 NP secretion specimens were obtained from 53 children. As a control group, 102 NP specimens were taken from children having an operation other than an otological disease. Conventional culture methods and multiplex-PCR method have been used to determine the etiology of OME; NP carriage between cases and control groups were compared using conventional culture methods. Pearson Chi-Square and Fisher's Exact tests were used in statistical analysis. RESULTS: Bacteria were isolated by culture in 37.9% of MEF specimens, 14.7% of which belonged to the group H. influenzae, S. pneumoniae and M. catarrhalis. PCR was positive in 30.5% specimens targeting the same pathogens. There was a two-fold increase in carriage rate of S. pneumoniae and H. influenzae in patients than controls for each pathogen. CONCLUSION: PCR is a more reliable method to detect middle ear pathogens in MEF in comparison with the conventional culture methods. The NP colonization wasn't found to be an indicator of the pathogen in MEF although middle ear pathogens colonize more in nasopharynx of diseased children.

A multidisciplinary approach to the management of individuals with fragile X syndrome.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. METHODS: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. RESULTS: The average IQ score was 49.8 +/- 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (5/22) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 3/22 (13.7%) patients and aortic annulus dilatation was present in 2/22 (9%) patients. CONCLUSIONS: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of 'high-functioning' full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Nasopharyngeal angiofibroma in a patient with haemophilia A: a bleeding tumour in a bleeding-prone patient.

Nasopharyngeal angiofibroma is a highly vascular tumour which occurs almost exclusively in adolescent males. Although it is histologically benign, it may cause serious clinical problems because of its tendency to bleed profusely during surgery. This paper presents the first case of nasopharyngeal angiofibroma in a patient with haemophilia A, another well-known disease of bleeding tendency. In this case the tumoural mass was surgically removed with effective factor VIII replacement without any bleeding complication.