Nutrigenetic genotyping study in relation to Sleep Apnea Clinical Score.

BACKGROUND: Conflicting results regarding associations between single nucleotide polymorphisms (SNPs) in IRS1, ACE, APOE, PPARG, MTHFR, 5HT2AR, BDNF, and FTO genes and obstructive sleep apnea have been reported in previous studies. OBJECTIVE: To assess pleiotropic associations between these gene polymorphisms that are commonly being studied in a nutrigenetic test and sleep apnea. METHODS: One hundred and nine subjects of Caucasian origin who have performed a commercially available nutrigenetic test that includes the aforementioned polymorphisms were divided into two groups depending on the results of their Sleep Apnea Clinical Score (SACS ≤ 15 or > 15). Statistical significant differences in the prevalence of the polymorphisms under study between the groups were assessed with the Chi-squared test. Possible associations of the polymorphisms with SACS and BMI were further evaluated with logistic regression analyses. RESULTS: From the polymorphisms studied, only variant rs9939609 in the FTO gene was more prevalent in people with high sleep apnea clinical score (χ2 = 7.1, P = 0.029). However, this association was attenuated after adjustment for body mass index (OR = 0.653, P = 0.178). CONCLUSION: We failed to confirm previously reported associations between the majority of the studied polymorphisms and sleep apnea. Body weight seems to be an important cofounding factor that needs to be accounted for, when genetic association studies are performed for sleep apnea.

SCUAD and chronic rhinosinusitis. Reinforcing hypothesis driven research in difficult cases.

BACKGROUND: Our objective is to present recent research findings on recalcitrant chronic rhinosinusitis (CRS) in relation to "Severe Chronic Upper Airway Disease" (SCUAD). METHODOLOGY: Literature review using Medline and Em base databases (search terms 'chronic rhinosinusitis'; "chronic sinusitis" or"Severe Chronic Upper Airway Disease") limited to articles published in the English language. RESULTS: Complex pathophysiological mechanisms characterize various forms of chronic rhinitis and rhinosinusitis (CRS), where inflammation persists in spite of adequate medical treatment. In these cases, a multifactorial etiology often underlies the development of sino-nasal inflammation. The interaction between chronic upper and lower airway inflammation via neurogenic and systemic pathways may complicate the therapy of these patients, and lead to insufficient symptom control. CONCLUSION: The recently introduced definition of"Severe Chronic Upper Airway Disease" (SCUAD) increases awareness of those patients with persistent inflammation and symptoms despite guideline-driven pharmacologic treatment. The concept of SCUAD may prove helpful in directing research towards clarifying the definition, diagnosis and pathophysiology of rhinitis and rhinosinusitis,their limits and overlap. In this review, a hypothesis on SCUAD immunopathology is also presented.

The golden ratio in facial symmetry.

Symmetry is believed to be a hallmark of appealing faces. However, this does not imply that the most aesthetically pleasing proportions are necessary those that arise from the simple division of the face into thirds or fifths. Based on the etymology of the word symmetry, as well as on specific examples and theories of beauty, we conclude that φ-value, a ratio also known as the golden ratio or the divine proportion, can also characterize symmetrical forms. Therefore, we propose the utilization of this ratio in facial aesthetics.

Canalith repositioning procedures among 965 patients with benign paroxysmal positional vertigo.

BACKGROUND: Canalith repositioning procedure (CRP) has increasingly been utilized for the last 15 years for the treatment of benign paroxysmal positional vertigo (BPPV). We assess the short- and long-term efficacy of CRP on the treatment of patients with BPPV. METHODS: Nine hundred sixty-five patients (481 men and 484 women, from 18 to 87 years of age) were enrolled in this prospective study during 1995-2010. Inclusion criteria were a patient history compatible with BPPV and a positive provocative maneuver (either Dix-Hallpike or Roll test). Reported duration of symptoms at the time of their first examination varied from 1 day to 18 months. Variants of the Epley and Barbeque maneuver were used for posterior and anterior canal involvement, and horizontal canal involvement, respectively. Short-term follow-up was obtained 48 h and 7 days after initial treatment, whereas long-term follow-up was obtained at repeated 6-month intervals. RESULTS: Symptoms subsided immediately in 819 patients (85%) by the first CRP. Only 19 patients (2%) required CRP more than 3 times. Patients' mean follow-up was 74 months; symptom recurrence was noted in 139 patients. A statistically significantly higher recurrence rate was noted in elderly people or those with head trauma or a history of vestibular neuropathy (p<0.001). CONCLUSIONS: This study provides class IV evidence that CRP remains an efficient and long-lasting noninvasive treatment for BPPV, especially for younger patients without a history of head trauma or vestibular neuropathy. Elderly people have a significantly higher recurrence rate requiring additional education to minimize potential morbidity of their falls.

Acute mastoiditis in a newborn with aural atresia.

Acute mastoiditis in the newborn is a very rare disease. Herein we report a case of a 28-day-old child with right aural atresia and ipsilateral mastoiditis requiring mastoidectomy. To our knowledge, this is the youngest case reported in the literature. Issues on diagnosis and management of mastoiditis in cases of aural atresia are further discussed. Based on our experience and on previous reported cases we conclude that mastoiditis is difficult to diagnose in a child with aural atresia. Moreover, mastoidectomy may be necessary, although identification of the facial nerve and consequent treatment of the atresia are usually too difficult to perform simultaneously.

Adenoidectomy plus tympanostomy tube insertion versus adenoidectomy plus myringotomy in children with obstructive sleep apnoea syndrome.

OBJECTIVE: To determine whether tympanostomy tube insertion has benefit, compared with simple myringotomy, in children with otitis media with effusion who receive concurrent adenoidectomy as treatment for obstructive sleep apnoea syndrome caused by adenoid hypertrophy. METHODS: Fifty-two children older than three years with obstructive sleep apnoea syndrome were randomly assigned to receive either adenoidectomy plus tympanostomy tube insertion (group one, n = 25) or adenoidectomy plus myringotomy (group two, n = 27). Pre- and post-operative health-related quality of life was assessed using the otitis media-6 (OM-6) tool, and audiological outcomes were recorded six and 12 months post-operatively. RESULTS: Group one showed better quality of life scores six months post-operatively (score difference -0.38, confidence interval -0.65 to -0.10) but not 12 months post-operatively (score difference -0.23, confidence interval -0.76 to 0.11), compared with pre-operative values. Audiological outcomes did not differ significantly at either time point, compared with pre-operative values. CONCLUSION: Tympanostomy tube insertion confers a short term benefit, compared with simple myringotomy, in children older than three years with otitis media with effusion who receive concurrent adenoidectomy as treatment for obstructive sleep apnoea syndrome. Further studies are necessary to identify which of these children will receive long-lasting benefit from tympanostomy tube insertion.

Acute mastoiditis complicated with bezold abscess, sigmoid sinus thrombosis and occipital osteomyelitis in a child.

Acute otitis media complications are relative rare since the introduction of antibiotics. Still many controversies exist on the diagnosis and treatment of some of them. In this report we describe a pediatric case of upper cervical abscess (bezold abscess), sigmoid sinus thrombosis and occipital osteomyelitis following mastoiditis, presenting with persistent fever and otorrhea. The patient responded well to intravenous antibiotics and wall-intact mastoidectomy. We discuss methods of early diagnosis and appropriate treatment options.

Dietary habits of preschool aged children with tonsillar hypertrophy, pre- and post-operatively.

BACKGROUND AND OBJECTIVES: Tonsillectomy has been reported to have a positive effect on weight gain of children with tonsillar hypertrophy. This effect may be related to better respiration or/and feeding, immunological or metabolic factors. In this study we analyse the effect of tonsillectomy on the dietary habits of children. SUBJECTS AND METHODS: Dietary habits of thirty 4-6 years old children were assessed before the operation and six months after it, using 24 hours dietary-recalls. In parallel, dietary habits of eighteen healthy children of the same age were assessed using the same method. RESULTS: Children with tonsillar hypertrophy were receiving greater amounts of daily calories overall from sugar products, soft drinks and edible fats (p = 0.01, t = 2.673). Post-operatively, they increased the calories they were consuming daily and consumed even greater amounts of these food (p < 0.001, t = 3.527) in relation to the control group, gaining weight significantly (p = 0.043). DISCUSSION: Parents should be aware of a possible weight increase after tonsillectomy which can be related to an over-consumption of products like candies and soft drinks.

Outpatient cold knife tonsillectomy in toddlers with sleep disordered breathing.

PROBLEM: Tonsillectomy performed as day surgery has become popular over the last fifteen years. However, there are conflicting opinions regarding the safety of this practice, especially in children of very young age. We sought to determine the safety of outpatient tonsillectomy in children aged three years old and younger. METHODOLOGY: A retrospective study of all tonsillectomies performed in a major pediatric hospital during a two-year period was conducted. Age, gender, indication for tonsillectomy, other procedures performed simultaneously, seniority of operating surgeon, and reasons for hospital admissions during the first post-operative week were recorded. Patients with inappropriate records for the analysis were excluded. A total of 1058 patients were studied. Tonsillectomized children were divided into two age groups: greater than 3 years old (n = 951) and 3 years old or younger (n = 107). RESULTS: Male gender, obstructed sleep disordered breathing as indication for surgery, seniority of the operating surgeon, and age of 3 years old or younger were not associated with post-operative complications. CONCLUSIONS: Outpatient tonsillectomy can be managed safely regardless of age, as long as specific factors, such as good recovery room supervision, exist.

Cleft lip and palate treatment of 530 children over a decade in a single centre.

OBJECTIVE: We sought to evaluate the process of care and the outcomes of cleft lip and palate operations carried by a multidisciplinary team at a centre of craniofacial anomalies with a high patients' volume. METHODS: A retrospective review of all cleft lips and/or palates cases treated in the centre from 1995 to 2007 was performed. Direct and long term complication rates, clinical, audiologic, speech intelligibility and dental arch assessments were analyzed. RESULTS: A total of 530 children have been operated this period in the centre (64 isolated cleft lip closures). A detailed presentation of the outcomes is performed in relation to the various types of cleft lip and palates. The majority of parents (70%) reported very good or excellent results 2-5 years after the lip closure with the Millard technique, although those with bilateral clefts were significantly less satisfied (P<0.002). Forty-two percent of children with cleft palate and otitis media with effusion were self-improved 2-8 months after palate reconstruction and 83.3% of children treated with the two flaps palatoplasty technique had a rather high or very high intelligibility score. Muscles' retropositioning had a significant effect on intelligibility (P=0.04). CONCLUSIONS: Children with cleft lips and palates have a variety of conditions and functional limitations even after the surgical correction of their problem that need to be evaluated and treated by several specialists. The treatment protocol utilized by the multidisciplinary team of our centre is efficient with a relative low percentage of complications and unfavorable results.

Quality of life in children with chronic suppurative otitis media with or without cholesteatoma.

OBJECTIVE: To validate a disease-specific health related quality of life (HRQOL) instrument for children with chronic suppurative otitis media with or without cholesteatoma. METHODS: Caregivers of 45 children with chronic suppurative otitis media, who were offered an operation (tympanoplasty or radical mastoidectomy) in a tertiary children's hospital, were administered a 5-item quality of life survey (COM-5) The COM-5, which is a modified version of OM-6, was administered four times: few weeks and few days before operation and six months and one year postoperatively. Psychometric characteristics and more specifically test-retest reliability, internal consistency, construct validity, and responsiveness to clinical change of the COM-5 score were the main outcome measures. RESULTS: Median COM-5 score was 2.6 (1- to 7-point scale) with higher scores indicating poorer quality of life. Test-retest reliability was good (interclass correlation coefficient=0.73) Construct validity was demonstrated by significant correlations between COM-5 score and global ear-related quality of life (R=-0.485), between physical suffering and ear-related physician visits (R=0.41) and between caregiver concerns vs ear-related physician visits (R=0.44). The mean change in COM-5 score after successful tympanoplasty was 1.1 and correlated well with the change of global ear-related quality of life rating (R=-0.545) as well as with the degree of clinical change reported by the caregiver (R=0.494). The mean standardized response was 1.3 after tympanoplasty indicating the instrument's large responsiveness to clinical change after this procedure, but only 0.7 after radical mastoidectomy. CONCLUSIONS: The COM-5 is a valid, reliable and responsive instrument. Apart from its satisfactory psychometric characteristics, it can be easily administered in caregivers of children who require a tympanoplasty due to chronic suppurative otitis media.

Otitis media with effusion: what parents want to know.

INTRODUCTION: Otitis media with effusion is a common condition of childhood. The development of an information leaflet for parents of children with the condition, and its impact on clinical management, have not previously been examined. PATIENTS AND METHODS: Eighteen doctors and 38 parents assessed the content of an information leaflet on otitis media with effusion, by applying two rounds of the modified Delphi technique. A qualitative assessment of content items was also performed. RESULTS: From the 23-item list used in the first assessment round, four items had a low doctor-parent agreement and seven were excluded. Differences were also noticed in comments on the value of such leaflets, with parents being more positive about the value of leaflet distribution. CONCLUSION: During the consultation, doctors may not tell parents what they want to know, especially regarding daily care of their child. An information leaflet, developed using the Delphi technique, can help reduce this discrepancy and increase parents' satisfaction.