Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiency of enzymes involved in the degradation of glycosaminoglycans (GAGs). These disorders are associated with the accumulation of GAGs in tissues with organomegaly, mental retardation and short stature. Otologic and upper respiratory tract pathologies are among the earliest clinical manifestations. We analyzed 20 patie...

Mucormycosis is a rare fungal infection that can involve the sino-orbito-cerebral region. Sino-orbito-cerebral mucormycosis is most common in patients who are immunocompromised or have diabetes mellitus, severe malnutrition or burns. This condition can be fatal if it is not diagnosed early and treated aggressively. This article presents 4 cases of mucormycosis, including 2 with orbital apex syn...

OBJECTIVE To validate the technique of sleep nasendoscopy using target controlled infusion in symptomatic patients and a control group of asymptomatic individuals. DESIGN Prospective cohort study. SETTING Department of otolaryngology-head and neck surgery and anesthesia in a teaching hospital. PARTICIPANTS Two groups of patients were compared and matched for their body mass index. The fir...

Jacobsen syndrome is a genetic disorder caused by partial deletion of the long arm of chromosome 11. Less than 300 cases have been reported, with some being diagnosed as late as the 4 decade of life. Clinical features include growth and psychomotor delay, characteristic facial anomalies involving the eyes, nose, mouth and ears, skull deformities, abnormal platelet function, congenital heart def...

BACKGROUND The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryn...

PURPOSE To investigate the process of fatigue in orbicularis oris muscles by analyzing the median frequency of electromyographic signal and the referred fatigue time, according to the breathing mode and the facial pattern. METHODS The participants were 70 children, aged 6 to 12 years, who matched the established criteria. To be classified as 36 nasal-breathing and 34 mouth-breathing children,...

BACKGROUND Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryngologic phenotype and respiratory cilia. Nasal biopsies and brushing were per...

background: splenic cysts are rare in all age groups and there are a few reports in the world literature. primary cysts occur most frequently in children and young adults, comprising around 25% of all nonparasitic splenic cysts. various techniques are suggested for the treatment of splenic cysts. in this case report, a huge epithelial splenic cyst in a 17-year-old female is presented and differ...

background: brucellosis is the most common bacterial zoonosis worldwide. greece has the highest reported incidence among eu countries. however, occupational risk factors have not been well described. objective: to determine the incidence patterns and exposure risk factors of brucellosis in greece. methods: we used national-level surveillance and occupational denominator data to estimate the inc...