• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.46-49
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• 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.

• Annals of Clinical Neurophysiology
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• 제9권1호
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• pp.1-4
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• 2007

Vertigo is an illusion of rotation, which results from an imbalance within the vestibular system. This review focuses on two common presentations of spontaneous vertigo: acute prolonged spontaneous vertigo and recurrent spontaneous vertigo. Common causes of acute prolonged spontaneous vertigo include vestibular neuritis, labyrinthitis, and brainstem or cerebellar stroke. The history and detailed neurological/neurotological examinations usually provide the key information for distinguishing between peripheral and central causes of vertigo. Brain MRI is indicated in any patient with acute vertigo accompanied by abnormal neurological signs, profound imbalance, severe headache, and central patterns of nystagmus. Recurrent spontaneous vertigo occurs when there is a sudden, temporary, and largely reversible impairment of resting neural activity of one labyrinth or its central connections, with subsequent recovery to normal or near-normal function. Meniere's disease, migrainous vertigo, and vertebrobasilar insufficiency (VBI) are common causes. The duration of the vertigo attack is a key piece of information in recurrent spontaneous vertigo. Vertigo of vascular origin, such as VBI, typically lasts for several minutes, whereas recurrent vertigo due to peripheral inner-ear abnormalities lasts for hours. Screening neurotological evaluations, and blood tests for autoimmune and otosyphilis are useful in assessment of recurrent spontaneous vertigo that are likely to be peripheral in origin.

• 한국멀티미디어학회논문지
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• 제25권9호
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• pp.1251-1256
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• 2022

Auscultation of heart sounds using a stethoscope is the basic method to diagnose the cardiovascular disease and observation of abnormalities. However, the heart sound transmitted to the ear through the stethoscope is greatly affected by internal sounds such as organ movement or breathing. In addition, the user's experience significantly influences the accuracy of the auscultation result. Therefore, in this paper, we developed a wearable device that simultaneously measures heart sound and PPG signals for cardiac condition monitoring. The structure of the proposed device is designed to simultaneously measure heart sound and PPG signals when worn on a finger and placed on the chest. A prototype was implemented according to the design structure, and it was confirmed that the performance of measurements and collection for physiological signals was excellent through experiments.

• 대한두개안면성형외과학회지
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• 제24권4호
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• pp.174-178
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• 2023

Background: This study aimed to identify the location of the optic foramen in relation to the anterior sphenoid sinus wall, which is essential information for surgeons in planning and performing endoscopic transnasal surgery. Methods: Computed tomography scans of 200 orbits from 100 adult patients with no abnormalities were examined. The results included the location of the optic foramen in relation to the anterior sphenoid sinus wall and the distance between them, as well as the distance from the optic foramen and the anterior sphenoid sinus wall to the carotid prominence in the posterior sphenoid sinus. Results: The optic foramen was anterior to the anterior sphenoid sinus wall in 48.5% of orbits, and posterior in the remaining 51.5%. The mean distance from the optic foramen to the anterior sphenoid sinus wall was 3.82±1.25 mm. The mean distances from the optic foramen and the anterior sphenoid sinus wall to the carotid prominence were 7.67±1.73 and 7.95±2.53 mm, respectively. Conclusion: The optic foramen was anterior to the anterior wall of the sphenoid sinus in approximately half of the orbits examined in this study, and posterior in the remaining half. The mean distance from the optic foramen to the anterior sphenoid sinus wall of the sphenoid sinus was 3.82±1.25 mm.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제49권5호
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• pp.270-277
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• 2023

Objectives: Concha cartilage is recommended for correction of cleft nasal deformities. Morbidities at the donor site have been reported in esthetic rhinoplasty cases. Reports on cleft patients are limited, so we investigated the complications of concha cartilage harvesting using the retroauricular approach in cleft rhinoplasty and their management. Materials and Methods: This was a retrospective review of the charts of 63 patients with cleft deformities who underwent septorhinoplasty with concha cartilage. All cases were harvested using a retroauricular approach. Data on patient demographics, surgery type, amount of cartilage harvested, and complications were gathered. Results: Sixty-three patients were enrolled (21 males and 42 females). The mean age of patients was 20.2±5.9 years. Complications were observed in 6 cases (9.5%) and included delayed wound healing (4.8%), prolonged postoperative pain (1.6%), postoperative paresthesia (1.6%), and prominauris (1.6%). Conclusion: The rate of complications associated with concha cartilage harvesting using a retroauricular approach is low. The use of meticulous surgical techniques, especially hemostasis control and adequate wound dressing, is key to minimizing postoperative complications.

• Archives of Plastic Surgery
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• 제45권5호
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• pp.411-417
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• 2018

Background Accessory auricles (AAs) are common congenital anomalies. We present a new classification according to location and shape, and propose a system for coding the classifications. Methods This study was conducted by reviewing the records of 502 patients who underwent surgery for AA. AAs were classified into three anatomical types: intraauricular, preauricular, and buccal. Intraauricular AAs were divided into three subtypes: intracrural, intratragal, and intralobal. Preauricular AAs were divided into five subtypes: precrural, superior pretragal, middle pretragal, inferior pretragal, and prelobal. Buccal AAs were divided into two subtypes: anterior buccal and posterior buccal. AAs were also classified according to their protrusion pattern above the surrounding surface: pedunculated, sessile, areolar, remnant, and depressed. Pedunculated and sessile AAs were subclassified as spherical, ovoid, lobed, and nodular, according to their body shape. Cartilage root presence and family history of AA were reviewed. A coding system for these classifications was also proposed. Results The total number of AAs in the 502 patients was 1,003. Among the locations, the superior pretragal subtype (27.6%) was the most common. Among the protrusion patterns and shapes, pedunculated ovoid AAs were the most common in the preauricular (27.8%) and buccal areas (28.0%), and sessile lobed AAs were the most common in the intraauricular area (48.7%). The proportion of AAs with a cartilage root was 78.4%, and 11% of patients had a family history. The most common type of preauricular AA was the superior pretragal pedunculated ovoid AA (13.2%) with a cartilage root. Conclusions This new system will serve as a guideline for classifying and coding AAs.

• 한국수정란이식학회:학술대회논문집
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• 한국수정란이식학회 2002년도 국제심포지엄
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• pp.73-73
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• 2002

Nuclear transfer (NT) techniques have advanced in the last years, and cloned animals have been produced by using somatic cells in several species including pig. However, it is difficult that the nuclear transfer porcine embryos development to blastocyst stage overcoming the cell block in vitro. Abnormal segregation of chromosomes in nuclear transferred embryos on genome activation stage bring about embryo degeneration, abnormal blastocyst, delayed and low embryo development. Thus, we are evaluated that the correlations of the frequency of embryo developmental rates and chromosome aberration in NT and In viかo fertilization (IVF) derived embryo. We are used for ear-skin-fibroblast cell in NT. If only karyotyping of embryonic cells are chromosomally abnormal, they may difficultly remain undetected. Then, we evaluate the chromosome aberrations, fluorescent in situ hybridization (FISH) with porcine chromosome 1 submetacentric specific DNA probe were excuted. In normal diploid cell nucleus, two hybridization signal was detected. In contrast, abnormal cell figured one or three over signals. The developmental rates of NT and IVF embryos were 55% vs 63%, 32% vs 33% and 13% vs 17% in 2 cell, 8 cell and blastocyst, respectively. When looking at the types of chromosome aberration, the detection of aneuploidy at Day 3 on the embryo culture. The percentage of chromosome aneuploidy of NT and IVF at 4-cell stage 40.0%, 31.3%, respectively. This result indicate that chromosomal abnormalities are associated with low developmental rate in porcine NT embryo. It is also suggest that abnormal porcine embryos produced by NT associated with lower implantation rate, increase abortion rate and production of abnormal fetuses.

• 대한소아치과학회지
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• 제23권3호
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• pp.601-608
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• 1996

저자는 전반적인 치아우식증을 주소로 개인 의원에서 경희대학교병원 소아치과에 의뢰된 10세 여아에서 Robinow syndrome 의 드문 증례의 치료를 시행하고 문헌을 고찰하여 다 음과 같은 결론을 얻었다. 1. 전신소견으로 전두부 돌출, 양안격리, 넓은 안검렬, 들창코 등을 보이는 태아모습의 특정적 안모와 작은키, 짧은 팔, 굽은 손가락, 생식기의 미발육 등이 관찰되었고 전반적인 발육지연이 있었다. 2. 구내소견으로 치아우식, 치아총생, 구개수의 미발육, 수술받은 구개열, 구호흡이 관찰되었다. 3. 이 증후군에서 드물게 보여지는 정신지체, 청각장애, 삼출성 중이염을 동반하였다. 4. 가족력은 발견할수 없었다. 5. 전신마취하에 전반척인 치과치료와 이비인후과치료를 함께 시행하였다. 6. Robinow 증후군은 여러 합병증을 수반할 수 있으므로 타과와의 협력하에 전반적인 검사를 시행하고 포괄적인 협력진료가 요구된다.

• 한국가축번식학회지
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• 제26권4호
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• pp.385-394
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• 2002

This study was constructed the correlations of the embryonic developmental rates and the frequency of chromosome aberration using ear-skin-fibroblast cell in nuclear transfer (NT) derived embryos. Karyoplast-oocyte complexes were fused and activated simultaneously, then cultured for seven days to assess development. The developmental rates of NT and in vitro fertilization (IVF) embryos were 55.4% vs 63.5%, 31.7% vs 33% and 13.4% vs 16.8% in 2 cell, 8 cell and blastocyst, respectively. Firstly, the frequency of chromosome aberrations were evaluated using fluorescent in situ hybridization (FISH) technique with porcine chromosome 1 submetacentric specific probe. Chromosome aberration was detected at day 3 on the embryo culture, the percentages of chromosomal aneuploidy in NT and IVF embryos at 4-cell stage were 40%, 31.3%, respectively. Secondly, embryonic fragmentation was evaluated at 4-cell stage embryo. Frequency of embryonic fragmentations was in 51.3% of NT, 61.3% of IVF, 28.9% of parthenogenetic activation at 4-cell stage. The proportion of fragmentation in NT embryos was higher than activation embryos. This result indicates that chromosomal abnormalities and embryonic fragments are associated with low developmental rate in porcine NT embryo. It is also suggest that abnormal porcine embryos produced by NT related with lower implantation rate, increased abortion rate and production of abnormal fetuses.

• 대한수의학회지
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• 제46권2호
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• pp.165-169
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• 2006

A 6-year-old female Jindo dog weighing 20 kg was presented to the Veterinary Medical Teaching Hospital of Seoul National University for the formation of crust and erosion of the nasal bridge and planum, and for alopecia of ear margin. Erythema, crusts, alopecia and erosions were present in the nasal planum and the bridge of the nose on physical examination. There were no abnormalities on CBC, serum chemistry, and basic dermatologic examination which included skin scraping, bacterial cultures, and fungal cultures. On cytology, the acantholytic cells were surrounded by non-degenerate neutrophils. Biopsy samples obtained from skin lesionswere diagnosedpemphigus erythematosus by histopathology and immunochemical staining. Therefore the dog was initially treated with oral prednisolone as an immunosuppressive dose for tour weeks, but clinical manifestations did not improve so far.