• The korean journal of orthodontics
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• v.38 no.3
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• pp.202-213
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• 2008

Objective: The purpose of this study was to compare the cephalometric measurements of obese and non-obese Korean male patients with obstructive sleep apnea syndrome (OSA). Methods: Eighty-seven adults who had visited the Sleep Disorder Clinic Center in Keimyung University, Daegu, Korea were examined and evaluated with polysomnography (PSG) and lateral cephalogram. They were divided into 4 groups (non-obese simple snorers, obese simple snorers, non-obese OSA patients, obese OSA patients) according to AHI (Apnea-Hypopnea Index) and BMI (Body Mass Index). Results: The obese OSA group had the highest AHI among the 4 groups. The non-obese OSA group had a significantly steeper mandibular angle and shorter tongue length than the obese OSA group. The hyoid bone of the obese OSA group was positioned anterior and inferior as compared with the non-obese OSA group. Multiple regression analysis showed that tongue length in the obese OSA group and retroposition of hyoid bone in the non-obese OSA group were significant determinants for the severity of AHI. Conclusions: From a cephalometric point of view, the obese and non-obese pateints with OSA may be characterized by different pathogeneses. Therefore, they have to be managed by individualized treatment. For the obese OSA patients, weight control must be advised as a first choice and for the non-obese OSA patients, oral appliance, nasal CPAP, UPPP and others could be chosen according to the obstructive sites.

• Journal of the korean academy of Pediatric Dentistry
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• v.46 no.4
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• pp.369-381
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• 2019

The aim of this study was to analyze the changes and improvements in symptoms of sleep-disordered breathing (SDB) using semi-rapid maxillary expansion (SRME) in children with narrow maxilla and SDB symptoms. Subjects were 15 patients with sleep disorder (apnea-hypopnea index, AHI ≥ 1) and narrow maxillary arch between 7 and 9 years of age. Before the SRME was applied, all subjects underwent pediatric sleep questionnaires (PSQ), lateral cephalometry, and portable sleep monitoring before expansion (T0). All subjects were treated with SRME for 2 months, followed by maintenance for the next 3 months. All subjects had undergone PSQ, lateral cephalometry, and portable sleep monitoring after expansion (T1). Adenoidal-nasopharyngeal ratio (ANR), upper airway width and hyoid bone position were measured by lateral cephalometry. The data before and after SRME were statistically analyzed with frequency analysis and Wilcoxon signed rank test. As reported by PSQ, the total PSQ scale was declined significantly from 0.45 (T0) to 0.18 (T1) (p = 0.001). Particularly, snoring, breathing, and inattention hyperactivity were significantly improved (p = 0.001). ANR significantly decreased from 0.63 (T0) to 0.51 (T1) (p = 0.003). After maxillary expansion, only palatopharyngeal airway width was significantly increased (p = 0.035). There was no statistically significant difference in position of hyoid bone after expansion (p = 0.333). From analysis of portable sleep monitoring, changes in sleep characteristics showed a statistically significant decrease in AHI and ODI, and the lowest oxygen desaturation was significantly increased after SRME (p = 0.001, 0.004, 0.023). In conclusion, early diagnosis with questionnaires and portable sleep monitoring is important. Treatment using SRME will improve breathing of children with SDB.

• Clinical and Experimental Reproductive Medicine
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• v.35 no.2
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• pp.99-110
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• 2008

Objectives: Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples carrying genetic conditions that may affect their offspring. Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. At least 95% of cases are caused by dominant mutations in the COL1A1 or COL1A2. In this study, we report on our experience clinical outcomes with 5 PGD cycles for OI in two couples. Methods: Before clinical PGD, we assessed the amplification rate and allele drop-out (ADO) rate of alkaline lysis and nested PCR protocol using heterozygous patient's single lymphocytes in the pre-clinical diagnostic tests for OI. We performed 5 cycles of PGD for OI by nested PCR for the causative mutation loci, COL1A1 c.2452G>A and c.3226G>A, in case 1 and case 2, respectively. The PCR products were analyzed by agarose gel electrophoresis, restriction fragment length polymorphism (RFLP) analysis with HaeIII restriction enzyme in the case 1 and direct DNA sequencing. Results: We confirmed the causative mutation loci, COL1A1 c.2452G>A in case 1 and c.3226G>A in case 2. In the pre-clinical tests, the amplification rate was 94.2% and ADO rate was 22.5% in case 1, while 98.1% and 1.9% in case 2, respectively. In case 1, a total of 34 embryos were analyzed and 31 embryos (91.2%) were successfully diagnosed in 3 PGD cycles. Eight out of 19 embryos diagnosed as unaffected embryos were transferred in all 3 cycles, and in the third cycle, pregnancy was achieved and a healthy baby was delivered without any complications in July, 2005. In case 2, all 19 embryos (100.0%) were successfully diagnosed and 4 out of 11 unaffected embryos were transferred in 2 cycles. Pregnancy was achieved in the second cycle and the healthy baby was delivered in March, 2008. The causative locus was confirmed as a normal by amniocentesis and postnatal diagnosis. Conclusions: To our knowledge, these two cases are the first successful PGD for OI in Korea. Our experience provides a further demonstration that PGD is a reliable and effective clinical techniques and a useful option for many couples with a high risk of transmitting a genetic disease.

• Clinical and Experimental Pediatrics
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• v.51 no.3
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• pp.299-306
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• 2008

Purpose : Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disorder characterized by fever, splenomegaly, pancytopenia, and hemophagocytosis in the bone marrow and other tissues. In this study, we investigated the clinical manifestations and prognostic factors in patients with HLH. Methods : We retrospectively analyzed the data from 29 patients who were diagnosed whit HLH in the Severance Children's Hospital from Jan. 1996 to Feb. 2007. Results : The median age at diagnosis was 3.8 years (range 0.1-12.2). The ratio of male to female patients was 1.1:1. The 5-year overall survival rate was 55.2% with a median follow-up duration of 32 months. In a multivariate analysis, the duration of fever before admission (survival vs. non-survival, 6.5 days vs. 14 days, P=0.010), the interval from the day of fever onset to the day of initiation of etoposide (survival vs. non-survival, 10 days vs. 35 days, P=0.002) and the presence of neurologic symptoms (survival vs. non-survival, 1 case vs. 7 cases, P=0.010) were independent, poor prognostic factors of HLH. EBV infection, gender, and the level of serum ferritin had no relations to the poor prognosis of the disease. Conclusion : This study showed that the presence of neurologic symptoms and a longer duration of fever were related to a poor prognosis. Therefore, if a patient develops neurologic symptoms and the duration of fever is prolonged, a prompt diagnostic approach and aggressive treatment for HLH are necessary.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.71-75
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• 2011

A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.