• Journal of the korean academy of Pediatric Dentistry
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• v.37 no.3
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• pp.374-380
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• 2010

Treacher Collins syndrome(TCS) is a rare, incurable condition occurring in approximately 1 of 25,000 to 50,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be manifested as an autosomal dominant pattern. TCS is characterized by facial deformities such as, underdevelopment of the maxilla, mandible and zygoma, malocclusion, bilateral deformities of auricles, antimongoloid slant of the palpebral fissures. The syndrome is often associated with cleft lip and palate, ear malformations and hearing loss, short stature, and anomalies of the heart and skeleton. Respiratory difficulty associated with air way obstruction may also be observed, and there is considerable difficulty in airway management during general anesthesia. It is necessary that dentists provide safe dental treatments and guidelines to TCS patients by providing adequate understanding about the characteristics of the syndrome and proper ways of managements. The purpose of this study is to report the dental and medical characteristics of the patient who visited the Department of Pediatric Dentistry, Yonsei University for multiple dental caries treatment and to review the literatures of TCS.

• Tuberculosis and Respiratory Diseases
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• v.42 no.4
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• pp.610-617
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• 1995

Sleep apnea occurs in approximately 50% of patients with acromegaly, and sleep apnea is associated with increased cardiovascular diseases and mortality. In view of these findings, sleep apnea may be a factor in the increased incidence of cardiovascular deaths in acromegaly patients. We experienced a case of active acromegaly patient, 54-yr-old man, associated with obstructive sleep apnea syndrome, congestive heart failure with dilated cardiomyopathy and serious cardiac arrhythmias. He was treated for obstructive sleep apnea syndrome, diagnosed by overnight polysomnography, with nasal continuous positive airway pressure(CPAP) for 4 months, which successfully controlled his loud snoring, sleep apnea, nocturnal hypoxemia and apnea-related symptoms. And also he was treated for underlying acromegaly and cardiac complications with bromocriptine and cardiogenic drugs for 4 months, but still had elevated growth hormone(GH) and insulin like growth factor-1(IGF-1) levels and serious cardiac arrhythmias. We describe our experience about the effect of CPAP treatment in an active acromegaly patient associated with obstructive sleep apnea syndrome and cardiac complications with review of literature.

• Sleep Medicine and Psychophysiology
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• v.20 no.1
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• pp.35-40
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• 2013

Objectives: The aim of this study is to evaluate the polysomnographic characteristics and prescription status of restless legs syndrome (RLS) patients in naturalistic setting. Methods: We reviewed medical record of the patients over 18 years olds who (i) satisfied the clinical RLS diagnostic criteria and (ii) had the polysomnography and got treatment related thereto. As a baseline, we evaluated the four diagnostic criteria of the International Restless Legs Syndrome Study Group (IRLSSG) and the International Restless Legs Scale (IRLS) of the subjects. Then the polysomnography and the suggested immobilization test (SIT) were conducted and, after one month of pharmacotherapy using dopamine agonist, the IRLS was evaluated again. Results: A total of 211 subjects participated in this analysis and 94 (44.5%) of them were male and the other 117 (55.5%) were female and the average age of the 211 subjects was $46.9{\pm}14.2$. Out of such 211 subjects, 136 subjects (64.5%) also had the obstructive sleep apnea (OSA), and 53 subjects (25.1%) also had the periodic limb movement disorder (PLMD). 185 subjects (87.7%) out of the 211 subjects had some other sleep disorders except RLS. The results of the polysomnography were as follows : 78.0% of sleep efficiency, 86.8 min of wake after sleep onset, and 3.4% of N3. More specifically, 12.4/h of the average apnea hypopnea index, 14.8/h of the periodic limb movement during sleep (PLMS), 41.2/h of the periodic limb movement during wake during SIT and 21.6/h of total arousal index during sleep. Out of the total subjects, 149 (70.6%) of them took the ropinirole and 47 (22.3%) of them took the pramipexole, and the average dosage of ropinirole was 0.9mg(dosage range 0.125-5 mg) while the average dosage of pramipexole was 0.5 mg (dosage range 0.125-4 mg). The dosage of the ropinirole showed a significant positive correlation with the age (r=0.25, p=0.002) and also with the IRLS (r=0.23, p=0.038). The IRLS at the baseline was 24.9 while the same was decreased down to 13.4 after one month. Conclusions: Analyzing the result of this study, a majority of clinical RLS subjects demonstrated comorbidity with some other sleep disorder such as the OSA or PLMD. 25.1% of the subjects showed a PLMD, which was less than in previous researches and the average PLMS was not very high as 14.8/h. The dosage of dopamine agonist taken was often a bit more than the amount recommended in Korea. A prospective research using a large scale controlled subjects will be necessary with respect to this topic.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.383-389
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• 2002

We experienced a case of partial DiGeorge syndrome in a $35^{＋5}$ week premature female infant presented with micrognathia, fish-shaped mouth, beaked nose, nasal regurgitation, obstructive sleep apnea, velopharyngeal insufficiency and late onset hypocalcemic seizures. The chromosome 22q11 microdeletion was found by the FISH method. The lab findings showed serum calcium level of 4.4 mg/dL, ionized calcium level of 0.49 mg/dL, phosphorous level of 7.5 mg/dL, magnesium level of 1.3 mg/dL and PTH-RIA level of <1 pq/mL. Initial treatment was done with 10% calcium gluconate infusion and magnesium sulfate followed by oral calcium gluconate and low phosphorousformula milk feeding. The serum calcium level was normalized in 6 days. Nasal regurgitation, desaturation with obstructive sleep apnea continued. T-cell functions & numbers(CD 3, CD 4, CD 8)were decreased but Ig G/A/M levels were normal. No visible signs of thymus shadow were seen in either chest X-ray & chest MRI. Electrocardiography and echocardiography showed normal heart. Kidney ultrasonographby showed right side mild hydronephrosis. Neurosonography was normal but EEG showed electrical partial seizure. Hearing assessment by BERA showed mild to moderate hearing impairment. Velopharyngoplasty is scheduled for further treatment. A brief review of literature was made.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.141-146
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• 2007

Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) is a disorder characterized by the repetitive collapse of the pharyngeal airway during sleep, which leads to oxygen desaturation, sleep fragmentation, daytime sleepiness, and increased risk for hypertension and stroke. We investigated the clinical factors related to the severity of OSAHS. Polysomnography was performed in three hundred and ninety five consecutive adult patients with clinical symptoms of obstructive sleep apnea syndrome. All patients completed the sleep questionnaire and the Epworth Sleepiness Scale before polysomnography. Patients were classified into four groups based on the severity of their polysomnographic data: Non-OSA group, characterized by Apnea-Hypopnea Index (AHI) < 5; mild OSA group, by AHI 5-15; moderate OSA group, by AHI 16-30; and severe OSA group, by AHI > 30. Neck circumference was also measured at the cricothyroid level. A total of 395 patients (336 men and 59 women) were studied. In the non-OSA group, there were 55 patients; their mean neck circumference was $39.63{\pm}4.24cm$ and mean BMI was $24.48{\pm}3.53$. In the mild group, there were 101 patients; their mean neck circumference was $41.93{\pm}3.75cm$ and mean BMI was $25.33{\pm}2.94$. In the moderated group, there were 93 patients; their mean neck circumference was $43.27{\pm}3.50cm$ and BMI was $25.90{\pm}2.88$. In the severe group, there were 146 patients; their mean neck circumference was $44.94{\pm}3.93cm$ and mean BMI was $26.81{\pm}3.76$. Men had significantly larger neck circumference than women ($Mean{\pm}SD$, $43.72{\pm}3.83$ vs $39.17{\pm}4.30$, p < 0.001), and higher AHI than women ($29.12{\pm}22.65$ vs $14.63{\pm}14.11$, p < 0.001). Multiple regression analysis revealed that neck circumference was the most significant predictor of AHI. Neck circumference and BMI were positively correlated with the severity of OSAHS. The severity of OSAHS was greater in men than in women.