• Molecules and Cells
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• 제41권7호
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• pp.695-702
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• 2018

The inner ear is a complex sensory organ responsible for hearing and balance. Formation of the inner ear is dependent on tight regulation of spatial and temporal expression of genes that direct a series of developmental processes. Recently, epigenetic regulation has emerged as a crucial regulator of the development of various organs. However, what roles higher-order chromatin organization and its regulator molecules play in inner ear development are unclear. CCCTC-binding factor (CTCF) is a highly conserved 11-zinc finger protein that regulates the three-dimensional architecture of chromatin, and is involved in various gene regulation processes. To delineate the role of CTCF in inner ear development, the present study investigated inner ear-specific Ctcf knockout mouse embryos (Pax2-Cre; $Ctcf^{fl/fl}$). The loss of Ctcf resulted in multiple defects of inner ear development and severely compromised otic neurogenesis, which was partly due to a loss of Neurog1 expression. Furthermore, reduced Neurog1 gene expression by CTCF knockdown was found to be associated with changes in histone modification at the gene's promoter, as well as its upstream enhancer. The results of the present study demonstrate that CTCF plays an essential role in otic neurogenesis by modulating histone modification in the Neurog1 locus.

• Archives of Plastic Surgery
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• 제45권1호
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• pp.62-68
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• 2018

Background Amputation is commonly performed for toe necrosis secondary to peripheral vascular diseases, such as diabetes mellitus. When amputating a necrotic toe, preservation of the bony structure is important for preventing the collapse of adjacent digits into the amputated space. However, in the popular terminal Syme's amputation technique, partial amputation of the distal phalanx could cause increased tension on the wound margin. Herein, we introduce a new way to resect sufficient bony structure while maintaining the normal length, based on a morphological analysis of the toes. Methods Unlike the pulp of the finger in the distal phalanx, the toe has abundant teardrop-shaped pulp tissue. The ratio of the vertical length to the longitudinal length in the distal phalanx was compared between the toes and fingers. Amputation was performed at the proximal interphalangeal joint level. Then, a mobilizable pulp flap was rotated $90^{\circ}$ cephalad to replace the distal soft tissue defect. This modified toe fillet flap was performed in 5 patients. Results The toe pulp was found to have a vertically oriented morphology compared to that of the fingers, enabling length preservation through cephalad rotation. All defects were successfully covered without marginal ischemia. Conclusions While conventional toe fillet flap coverage focuses on the principle of length preservation as the first priority, our modified method takes both wound healing and length into account. The fattiest part of the pulp is advanced to the toe tip, providing a cushioning effect and enough length to substitute for phalangeal bone loss. Our modified method led to satisfactory functional and aesthetic outcomes.

• 한국수산과학회지
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• 제15권4호
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• pp.283-290
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• 1982

Sardine and mackerel so called dark muscled fish have been underutilized due to the disadvantages in bloody meat color, high content of fat, and postmortem instability of protein. Recent efforts were made to overcome these defects and develope new types of product such as texturized protein concentrates and dark muscle eliminated minced fish. Approach of this study is based on the rapid dehydration of foamed fish-starch paste by dielectric heating. In process comminuted sardine meat was washed more than three times by soaking and decanting in chilled water and finally centrifuged. The meat was ground in a stone mortar added Ivith adequate amounts of salt, foaming agent, and other ingredients for aid to elasticity and foam stability. The ground meat paste was extruded in finger shape and heated in a microwave oven to give foamed, expanded, and porous solid structure by dehydration. Dielectric onstant $(\varepsilon')$ and dielect.ic loss $(\varepsilon")$ values of sardine meat paste were influenced by wavelength and moisture level. Those values at 100 KHz and 15 MHz were ranged 2.25-9.86; 2.22-4,18 for E' and 0.24-19.24; 0.16-1.20 for E", respectively, at the moisture levels of $4.2-13.8\%$. For a formula for fish-starch paste preparation, addition of $20-30\%$ starch (potato starch) to the weight of fish meat, $2-4\%$ salt, and $5-10\%$ soybean protein was adequate to yield 4-5 folds of expansion in volume when heated. Addition of e99 yolk was of benefit to micronize foam size and better crispness. In order to provide better foaming and dehydration, addition of $0.2-0.5\%$sodium bicarbonate, foaming agent, was proper to result in foam size of 0.5-0.7 mm and foam density of $200-400\;/cm^2$ which gave a good crispness. Heating time was depended upon the moisture level of fish-starch paste. For a finger shaped paste (1.0cm. $D\times10cm.L$) heating for 150-200 sec. in a microwave oven (700W. 2.45GHz) was sufficient to generate foams, expand, and solidify the porous structure of fish-starch paste. When the moisture content was above $55\%$ browning and scorching was deepened due to over-expansion and over-heating whereas the crispness was hardened by insufficient expansion at lower moisture content. In quality evaluation of the product, chemical composition of $30\%$ starch and $3\%$ salt added product was moisture $8.8\%$, lipid $2.4\%$, carbohydrate $46.7\%$, protein $36.1\%$, and ash $6.0\%$. Eleven membered panel test evaluated that fish-starch paste was acceptable in color, crisp-ness, taste, except a trace of fishy odour which could be masked by the addition of spice extracts.

• 대한소아치과학회지
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• 제30권3호
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• pp.341-347
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• 2003

Smith-Magenis syndrome(이하 SMS)은 제 17번 상염색체의 부분적 결손으로 발생하는 다발성 선천적 기형 및 정신지체를 특징으로 하는 증후군으로 1 : 25,000의 빈도로 발생하는 것으로 알려져 있다. 이 증후군은 작은 키와 단두증(brachycephaly)을 동반한 편평한 중안면, 처진 입, 종종 두드러지게 붉은 뺨, 성인에서 돌출된 턱 등의 특징적인 얼굴 생김새, 만성이염, 청각 손상, 사시와 근시를 포함한 눈의 이상, 목 쉰 소리, 짧은 손가락과 발가락, 심장 질환, 비뇨기 질환, 척추 만곡, 비정상적 걸음걸이, 통각에 둔감함 등의 신체적 특징을 지닌다. 특히 유아기에는 토실토실한 아기 얼굴, 행복한 기분, 드문 울음소리, 낮은 근 긴장도, 섭식 장애 등의 특징이 있다. 수면 장애를 포함하여 언어 지체 및 발음 장애, 발달지체, 학습 장애, 정신지체, 활동항진과 자해, 폭발적 분노, 지속되는 짜증, 파괴적이고 공격적인 행동, 흥분성, 흥분시에 팔로 안거나 손을 끼우는 행동 등의 행동 발달적 특징을 나타낸다. 본 증례는 3세 3개월된 남아로 생후 10개월에 SMS를 진단받은 환자로 상악 좌측 제 1유구치의 통증을 주소로 본과에 내원하였으며, 임상 및 방사선학적으로 다발성 우식증을 보였으며, 소아과 주치의에게 의뢰한 결과 심내막염의 예방을 위한 항생제의 처치를 처방 받고, 환아의 행동 발달적 문제로 인해 물리적 속박의 방법 하에 외래에서 치료되었다. 이 증례를 통해 SMS라는 희귀한 증후군에 관하여 보고하고자 한다.

• Archives of Reconstructive Microsurgery
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• 제11권1호
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• pp.53-62
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• 2002

Several investigators have reported clinical experience of medial plantar septo-cutaneous flap for reconstruction for soft tissue defect of the hand and digits. Jayme and Hamilton first described the anatomy of superficial branch of medial division of the medial plantar artery used in this flap through cadavaric study in 1997. But, they had a few cases for this flap and there was no anatomic study in Korean. We experienced the reliability of medial plantar septo-cutaneous flap for reconstruction for soft tissue defect of hand and digits through an anatomic study (20 fresh specimens dissected) and clinical application (17 patients). An anatomic study revealed that there were differences in diameter and length of the vessels between Korean and Caucasian. The diameter of vessels in Korean is larger than Caucasian one in each area. Based on this anatomic knowledge, we could harvest this flap safely, and have performed reconstruction on 17 patients with soft tissue defects of hand and digits using a thin, flexible medial plantar septo-cutaneous flap similar to the volar aspect of the hand and digits in anatomical characteristics of the skin and subcutaneous tissue covering. The vessels used for this flap were superficial branches of medial division of the medial plantar artery and vena comitants, or the subcutaneous veins. The mean size of the flap was $2.82cm{\times}4.15cm$. All the flaps survived without significant complications. A medial plantar septo-cutaneous flap possesses several advantages : (1) It is very thin in comparison with other standard free flap; (2) it has two draining venous pathways; (3) it provides a good color and texture match for hand and finger; (4) a good recovery of protective sensation is achievable.

• Journal of Genetic Medicine
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• 제7권1호
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• pp.37-44
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• 2010

목적: Kabuki 증후군은 정신 지체를 동반하는 선천성 다발성 기형 증후군이다. 우리나라에서는 현재까지 6례의 Kabuki 증후군 증례가 산발적으로 보고 된 바 있다. 본 연구에서는 저자들이 경험한 Kabuki 증후군 환자 6명의 임상 및 유전학적 특징을 조사하고, 이를 외국 문헌들과 비교 분석해 보고자 하였다. 대상 및 방법: 2003년부터 2009년까지 아주대학교 병원 유전질환 전문센터에서 Kabuki 증후군으로 진단되어 추적 중인 6명의 한국인 여아를 대상으로 하였으며, 의무기록을 후향적으로 검토하여 이들의 임상 및 검사 소견을 수집하고 분석하였다. 결 과: 6명의 환자 모두가 특징적인 얼굴 모습 및 발달 지연 소견을 보이고 있었고, 손끝의 태아 패드 또한 모든 환자에서 확인되었다. 이외에도 대부분의 환자가 생후 성장 지연(83.3 %) 및 근력 저하(83.3%) 소견을 보였다. 안과적인 이상 또한 흔하게 동반되었는데, 특히 사시(83.3%)가 가장 흔한 안과적 이상 소견이었다. 선천성 심장 기형은 50%의 환자에서 동반되었으며, 골격계통의 증상으로는 짧거나(83.3%) 굽은(50%) 5번째 손가락, 관절의 과신전(50%) 및 고관절 탈구(16.7%) 등으로 다양하였다. Kabuki 증후군의 가족력을 가진 환자는 없었으며, 핵형 분석 및 array CGH를 포함한 세포유전학적 분석에서 Kabuki 증후군의 원인으로 생각되는 이상 소견은 발견되지 않았다. 결 론: 한국인 Kabuki 증후군 환자들이 보이는 임상 양상은 매우 광범위하며 다양한 신체 기관을 침범하고 있다. 비록 Kabuki 증후군의 임상적특징들이 비교적잘 알려져 있기는 하지만, 아직질환의 원인으로 추정되는 유전적 이상은 확실히밝혀지지 않았다. 적절한 질환의 관리및 유전상담이 이루어지기 위해서는 Kabuki 증후군의 자연 경과 및 유전적 배경에 대한 추가적인 연구가 필요하다고 생각된다.

• 대한안과학회지
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• 제59권11호
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• pp.1091-1096
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• 2018

목적: 양안 급성 폐쇄각녹내장 후 발생한 양안 비동맥염 앞허혈시신경병증 1예를 보고하고자 한다. 증례요약: 76세 여자 환자가 하루 전 시작된 양안 통증 및 시력저하로 방문하였다. 양안 시력 0.02, 안압은 우안 52 mmHg, 좌안 50 mmHg, 양안 각막부종과 얕은 전방이 관찰되었으며, 동공은 4 mm로 고정되어 있었다. 만니톨 주사로 안압하강 시킨 후 양안 레이저홍채절개술을 시행하였다. 그러나 2일 후 시력은 우안 안전수지 10 cm, 좌안 안전수지 50 cm로 더 감소되었고 양안 시신경 유두부종이 관찰되었다. 양안 급성 폐쇄각녹내장 후 발생한 비동맥염 앞허혈시신경병증으로 진단하고 경과관찰하였다. 한 달 뒤, 시력은 우안 0.02, 좌안 0.04로 약간 호전되었고, 양안 시신경 유두부종은 사라졌다. 매우 작은 유두함몰비와 시신경 창백과 위축이 관찰되었으며, 표준자동시야검사상 우안은 완전시야결손, 좌안에 상하 수평시야결손이 관찰되었다. 결론: 급성 폐쇄각녹내장이 비동맥염 앞허혈시신경병증의 선행 위험인자가 될 수 있으며, 구심동공운동장애와 유두부종, 다른 위험인자의 동반이 있는 경우 비동맥염 앞허혈시신경병증의 동반 가능성을 고려해야 한다.