• Journal of the korean academy of Pediatric Dentistry
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• v.43 no.3
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• pp.313-319
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• 2016

Wolf-Hirschhorn syndrome (WHS), associated with the deletion of the short arm of chromosome 4, causes multiple congenital malformations. Patients suffer from various deformities, including mental and growth disorders, epilepsy, hypotonia, congenital heart defects, and atypical craniofacial features. The "Greek warrior helmet appearance" is the most characteristic feature, with a prominent glabella, high arched eyebrow, broad nasal bridge, and hypertelorism. Cleft lip with or without cleft palate is observed in 30% of patients. Dental structure anomalies also exist including multiple tooth agenesis and over-retained primary molars caused by MSX1 gene impairment, and cone-shaped and taurodontic teeth. This case, a 9-year-old girl with WHS, showed intellectual disability, delayed growth development, previous occurrence of seizures, otitis media, and the typical facial features of WHS. Dental findings included multiple congenital missing teeth, over-retained primary teeth, and severe caries on the primary molars. Dental treatments were performed under general anesthesia. This report documents the characteristics of WHS, including general and oral features, and discusses the importance of oral hygiene and preventive dental management.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.91-94
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• 2003

Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial calcifications in the particularly periventricular area. It undergoes an autosomal recessive inheritance. Twelve cases of Raine syndrome have been reported in the literature. However, a case of Raine syndrome in Korea has not been reported yet. Therefore, we describe a female newborn with Raine syndrome with a brief review of the literatures.

• The Korean Journal of Nuclear Medicine
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• v.29 no.4
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• pp.518-525
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• 1995

목적 : 안구제거술 후에 삽입한 hydroxyapatite 안구보충물내로 혈관신생이 완전하게 일어 나는 시기를 알아보기 위함이다. 방법 : 안구제거술을 받은 43예의 환자(남자 33예, 여자 10예, 14-56세)에게 대부분 변경되지 않은 방법으로 hydroxyapatite 안구보충물을 삽입한 후 10-23주 사이에 다양한 간격(10-12 주 2예, 13-16주 18예, 17-20주 20예, 21-23주 3예)을 두고 $^{99m}Tc-MDP$ 골주사를 시행하여 보충물내로의 혈관신생 정도를 전향적으로 측정하였다. 정면 및 측면촬영의 정적영상에서 안구보충물의 방사능섭취가 비교(nasal bridge)의 방사능섭취보다 약할 경우를 grade 1, 같을 경을 grade 2, 강할 경우를 grade 3로 나누었으며 grade 2와 3을 혈관신생이 완전하다고 정의하였다. 또한 43예 모두에서 방사능섭취 정도와 관계없이 안구보충물 삽입후 평균 21주되는 시기에 안구보충물에 구멍을 내어 이 구멍으로부터의 출혈여부를 확인한 후 운동성나사(motility peg)를 끼워 의안(prosthesis)과 연결하였다. 43예중 7예에서는 $^{99m}Tc-MDP$ 골주사와 조영제주입후의 자기공명영상(Gd-DTPA T1-weighted images)을 같은 날짜에 시행하여 각각의 예에서 방사능섭취 정도와 조영제증강 정도를 비교하였다. 결과 : 안구보충물내로 완전하게 혈관신생이 일어났던 grade 2와 3의 비율은 안구보충물삽입후 10-12주에서는 0%, 13-16주 33%, 17-20주 50%, 21-23주 67%로써 시간경과에 따라 점차 증가하였다. 골주사소견에 관계없이 안구보충물 삽입후 평균 21주되는 시기에 보충물 앞쪽에 구멍을 내었을 때 43예 모두에서 완전한 혈관신생을 의미하는 출혈을 볼 수 있었다. $^{99m}Tc-MDP$ 골주사와 조영제주입후의 자기공명영상을 둘 다 시행한 7예 각각에서 방사능섭취의 정도와 조영제증강의 정도가 거의 일치하였다. 결론 : 본 예비연구의 결과로써 hydroryapatite 안구보충물 삽입후 21주째에 $^{99m}Tc-MDP$ 골주사를 시행하는 것이 좋을 것으로 생각되며, hydroxyapatite 안구보충물내로의 완전한 혈관신생 여부를 보는 데에는 $^{99m}Tc-MDP$ 골주사가 조영제주입후의 자기공명영상보다 더 경제적이라고 할 수 있겠다.

• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• Tuberculosis and Respiratory Diseases
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• v.46 no.4
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• pp.500-511
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• 1999

Background: Noninvasive positive pressure ventilation (NPPV) using facial or nasal mask have been widely used for several years in stable patients with chronic neuromuscular disease or central alveolar hypoventilation, and recently have been tried in patients with acute respiratory failure. In a few studies, NPPV was also used to rescue the patients with post-extubation respiratory failure. However, yet it has not been adopted as a weaning method in patients on long-term mechanical ventilation. So we performed this prospective clinical study to evaluate the usefulness of NPPV as a weaning method after removing endotracheal tube intentionally in patients on long-term mechanical ventilation. Method: Twelve patients who had been on invasive mechanical ventilation over 10 days were enrolled and 14 trials of NPPV were done. All had failed at least one weaning trial and showed ventilator dependence(pressure support requirement between 8-15cm $H_2O$, and PEEP requirement between 5-10cm $H_2O$), so tracheostomy was being considered. After removing the endotracheal tube, NPPV was applied using facial mask. Respiratory rate, arterial blood gas, pressure support level, and PEEP level were monitored just before intended extubation, at 30 minutes, 1 to 6, 6 to 12, 12 to 24 hours, 2nd day, and 3rd day following initiation of NPPV, and just before weaning from NPPV. The successful weaning was defined as spontaneous breathing off the ventilator for 48 hours or longer without respiratory distress. Results: The weaning through NPPV after intended extubation was successful in 7(50%) of 14 trials, and tracheostomy could be avoided in them. There were no differences in age, sex, APACHE III score, duration of invasive mechanical ventilation, baseline respiratory rate, $PaCO_2$ $PaO_2/FiO_2$, and ventilatory requirement(PS and PEEP) between the success and failure groups. In the success group, respiratory rate, pH, $PaCO_2$, and $PaO_2/FiO_2$ were not different between invasive MV and NPPV period. But in the failure group, pH decreased after 30 minutes of NPPV initiation compared with that of invasive MV($7.40\pm0.08$ vs. $7.34\pm0.06$, p<0.05). The causes of failure were worsening of ABG(n=3), retained tracheal secretion(n=2), mask intolerance(n=1), and flail chest(n=1). Conclusion: NPPV may be worth trying as a bridge method in weaning patients on long-term invasive mechanical ventilation.

• Development and Reproduction
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• v.12 no.3
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• pp.289-296
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• 2008

BPES (Blepharophimosis/Ptosis/Epicanthus inversus Syndrome) is an autosomal dominant disorder caused by mutations in FOXL2. Affected individuals have premature ovarian failure (POF) in addition to small palpebral fissures, drooping eyelids, and broad nasal bridge. FOXL2 is a member of the forkhead family transcription factors. In FOXL2-deficient ovaries, granulosa cell differentiation dose not progress, leading to arrest of folliculogenesis and oocytes atresia. Using yeast two-hybrid screening of rat ovarian cDNA library with FOXL2 as bait, we found that small ubiquitin-related modifier (SUMO)-conjugating E2 enzyme UBE2I protein interacted with FOXL2 protein. UBE2I also known as UBC9 is an essential protein for processing SUMO modification. Sumoylation is a form of post-translational modification involved in diverse signaling pathways including the regulation of transcriptional activities of many transcriptional factors. In the present study, we confirmed the protein-protein interaction between FOXL2 and UBE2I in human cells, 293T, by in vivo immunoprecipitation. In addition, we generated truncated FOXL2 mutants and identified the region of FOXL2 required for its association with UBE2I using yeast-two hybrid system. Therefore, the identification of UBE2I as an interacting protein of FOXL2 further suggests a presence of novel regulatory mechanism of FOXL2 by sumoylation.