• Korean Journal of Clinical Laboratory Science
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• v.52 no.1
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• pp.78-82
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• 2020

Carotid web is a disease that is rarely found in patients with ischemic stroke, whereas it is more frequently observed in cryptogenic stroke patients. Fibromuscular dysplasia is known as the cause of carotid web, and it has been reported that carotid web causes blood flow disturbance, resulting in both thrombus and embolic stroke. Carotid web is confused with carotid dissection because fibromuscular dysplasia causes relatively rigid fibrous structures to grow into the lumen of the carotid artery and this creates a double lumen that is seen on duplex sonography. In addition, carotid web is web-shaped and may be confused with other carotid artery diseases such as ulcerative plaque. However, carotid web tends to be thicker at the beginning and thinner at the end, and it also has no flutter. Therefore, this study reports on four cases of carotid web with the overall description of the carotid web and the characteristic findings of duplex sonography in patients with carotid web.

• Journal of Genetic Medicine
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• v.7 no.2
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• pp.119-124
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• 2010

More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known to cause Mendelian disorders are located in protein-coding regions. Therefore, exome sequencing is an efficient strategy to selectively sequence the coding regions of the human genome to identify novel genes associated with rare genetic disorders. The "exome" represents all of the exons in the human genome, constituting about 1.5% of the human genome. Exome sequencing is carried out by targeted capture and intense parallel sequencing. After the first report of successful exome sequencing for the identification of causal genes and mutations in Freeman Sheldon syndrome, exome sequencing has become a standard approach to identify genes in rare Mendelian disorders. Exome sequencing is also used to search the causal genes and variants in complex diseases. The successful use of exome sequencing in Mendelian disorders and complex diseases will facilitate the development of personalized genomic medicine.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1153-1159
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• 2022

Dolichoectasia is an uncommon disorder characterized by the presence of a dilated, elongated, and tortuous cerebral artery. Its main pathologic mechanism is the disruption of the internal elastic lamina. Risk factors for dolichoectasia are advanced age, chronic hypertension, and metabolic disease. It mainly involves the vertebrobasilar vasculature (or "posterior circulation"), but dolichoectasia can also be seen in the anterior circulation, particularly the anterior cerebral artery. There are no reported cases of dolichoectasia involving both anterior and posterior circulation in South Korea. Here we report an unusual case of dolichoectasia involving both anterior and posterior circulation in a young female without any underlying disease on the basis of prominent imaging findings.

• Journal of the Korean Society of Radiology
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• v.84 no.6
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• pp.1257-1265
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• 2023

Cystic fibrosis (CF) is a fatal hereditary disorder that primarily affects Caucasians and is rare in Asian populations, including Koreans. Diagnosing CF is often challenging and delayed owing to its rarity and its overlapping features with non-CF diseases, ultimately affecting the patient prognosis. Radiologists can provide initial clues for clinically unsuspected cases and play a crucial role in establishing an early childhood diagnosis. This pictorial essay reviews the clinical and imaging features of genetically confirmed CF in Korean children and increases awareness of this rare disease, thereby facilitating early diagnosis.

• Journal of the Korean institute of surface engineering
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• v.20 no.1
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• pp.15-24
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• 1987

超硬合金과 高速度鋼에 TiC, TiN 그리고 $Al_2O_3$의 耐 마모 코우팅시에 사용되는 CVD와 PVD 기술을 M E Sjostrand와 A G Thelin 등이 본 논문에서 논의하였다. 또한 CVD와 PVD 의 특별한 장점과 응용영역에 대하여도 토의하였다. 수년동안 CVD 기술은 금속질화물, 금속탄화물 그리고 금속산화물 등의 耐 마모 코우팅을 생산하는데 성공적으로 사용되어 왔다. Munster와 Ruppert에서는 1950년대 초기에 TiC와 TiN의 CVD 공정을 연구했는데 이런 코우팅 재료의 높은 화학적 안정성과 더불어 高硬鋼라는 독특한 성질로 인해 그 주요 영역이 명백해졌다. 1968년에 처음으로 CVD법에 의한 보호막 코우팅의 대규모 응용이 이루어졌는데 그것은 超硬合金 절삭공구의 코우팅이었다. (그림1 참고) 이것은 硬금속산업에 있어서 가장 중요한 발전단계였다. TiC, TiN 그리고 $Al_2O_3$로 코우팅된 공구의 생산은 1970년대에 빠른 성장을 보였으며 오늘날 사용되는 절삭날의 50% 이상을 점유하고 있다. (그림2 참고) TiC와 TiN은 현재 이용되고 있는 모든 耐 마모 코우팅 중에서 독보적인 위치를 차지하고 있다. 그 이유는 생산과정이 비교적 단순하기 때문이다. 지난 5년동안 절삭공구와 總形바이트의 코우팅에 대한 PVD기술의 응용이 폭발적으로 증가했다. 증착기술인 이들 CVD와 PVD 각각은 자체의 독특한 장점이 있으므로 그 응용영역은 증착조건, 즉 기지금속의 접착성과 증착온도 그리고 증착속도등에 따라 매우 다를 것이다. PVD 공정으로 인해 고속도 공구강이 급속도로 발전되었고 더우기 PVD공정은 500$^{\circ}C$ 이하의 증착온도에서 brazed carbide 공구의 코우팅을 가능하게 하였다. 따라서 두 증착기술은 서로 상반적이라기 보다는 상호보완적인 것이라고 생각하는 편이 더 좋다.TEMPLA에 비해 CLB의 수가 15.58% 감소되었다. 높은 활성을 나타내었다. 정제된 효소의 최적온도는 40$^{\circ}C$이었으며 20~50$^{\circ}C$에서 비슷한 활성을 나타내었고, 30$^{\circ}C$에서는 60분동안 효소활성이 거의 상실되지 않았다. 정제된 효소는 ethanol과 chloroform 처리에는 안정하였으나 12mM AT 와 0.1mM $NaN_3$ 및 1mM KCN에 의해 90% 이상의 활성이 억제되었다.이에 근거하여 서울시 학생들($7{\sim}18$세)의 만성신부전증 유병률은 1백만명당 5.7명으로 추정되었다. 결론 : 서울시내 학생들 중 11세, 14세, 17세 3개 군에서 한 번 검사로 확인된 무증상 단백뇨의 유병률은 0.28%(약 2.8명/1,000명)이었고 이들중 약 5%만이 3차검사에서 신질환이 의심되었으며 이에 따른 신질환 유병률은 1만명당 1.4명이었다. $7{\sim}18$세 연령층에서 무증상으로 발생하는 사구체 신질환 중에는 IgA 신병증의 유병률이 가장 높아 1만명당 0.64명으로 추정되었고 만성신부전증의 유병률은 1백만명당 5.7명으로 추정되었다. 집단뇨 검사를 통해 확인되는 신질환은 대부분 사구체 질환이기 때문에 집단뇨검사의 의의는 좀더 연구가 필요할 것으로 생각되었다. 오히려 증상을 동반하는 경우보다 빈도가 증가한다는 사실은 집단뇨 검사에서 소변의 이상소견이 발견되어 신장 조직검사를 실시할 경우 혈청 $C_3$치의 감소 여부에 관계없이 MPGN도 진단적 고려 대상이 되어야 한다고 생각한다.신장 조직검사를 시행한 결과 진행성 경과를 취할 수 있는 막 증식성 사구체 신염과 매우 희귀한 증례인 신유전분증 등으로 진단됨으로써 지속성 단백뇨의 경우 정확 진단적 접근이 필수적임을 알 수 있다. 기립성

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1358-1362
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• 2006

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.

• The Journal of the Korean bone and joint tumor society
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• v.8 no.3
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• pp.69-75
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• 2002

Werner's syndrome is a rare autosomal recessive disorder manifesting as premature aging. It is also known to be characterized by a high frequency of malignant tumors, especially sarcomas. However, Werner's syndrome may be not only a premature aging disease but also a cancer syndrome, because the malignant tumors in these patients are different from those of normal population with respect to involved site, histological type, and age of onset. Recent studies found Werner's syndrome was caused by a mutation of Werner helicase suggesting that WRN helicase may participate in metabolism and repair of DNA. And a dysfunction of WRN helicase may induce the genomic instability causing somatic mutations. Further studies of Werner's syndrome associated with sarcoma might give much informations about the normal aging process and the pathogenesis of sarcomas.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.4
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• pp.667-672
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• 2003

Rieger syndrome is a rare, autosomal dominant genetic disorder characterized by malformation of the anterior chamber of the eye(goniodysgenesis) coincident with hypodontia. It may also be accompanied by a spectrum of dental, craniofacial and somatic anomalies. Mutations in paired-like homeodomain transcription factor2(PITX2) are associated with the syndrome, and its frequency in the general population has been estimated to be 1 : 200,000. In the present case, the patient, 4 year 7 month-old female, had posterior embryotoxon and polycoria. The maxilla was retrusive in cephalometric radiography. She had congenital missing on #52, #62 and some tooth germs of permanent tooth were not detected in panoramic radiography. The purpose of this paper is to report the dental and craniofacial findings and review the pertinent literature through this case.

• The Korean Journal of Pain
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• v.7 no.1
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• pp.113-115
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• 1994

Bacterial meningitis is a rare complication of epidural block. As epidural abscess, subarachnoid infection associated with epidural catheters are related to the treatment of pain in diabetic patient whose immune responses have been impaired. A 51-year-old male with non-insulin dependent diabetes came to the pain clinic with neuropathic gain on right thigh and amputated stump of right leg. Treatment consisted of continuous epidural block and subcutaneous tunnelling and epidural morphine with bupivacaine was given on an outpatient basis. Two months later, the patient noted a diffuse frontal headache, projectile vomiting and stiffness neck. These symptoms became more aggrevated over the following 24 h and temperature went up to $38.4^{\circ}C$. A diagnostic lumbar puncture revealed CSF total protein of 747 mg/dl, glucose of 43 mg/dl, and $4320\;WBC/mm^3$. Cultures of epidural catheter tip grew hemolytic staphylococcus epidermidis. A chest x-ray and brain CT scan were negative. Antibiotic therapy with penicillin G and chloramphenicol was given for 15 days. Recovery was uneventful.

• Journal of the Korean Society of Radiology
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• v.83 no.3
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• pp.737-743
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• 2022

Aspergillus tracheobronchitis, an uncommon form of invasive pulmonary aspergillosis, is characterized by the development of a pseudomembrane, ulcers, or an obstruction that is predominantly confined to the tracheobronchial tree. Pseudomembranous Aspergillus tracheobronchitis is the most severe form of Aspergillus tracheobronchitis, and only a few cases have been reported in Korea. We report the characteristic chest CT findings in a patient diagnosed with pseudomembranous Aspergillus tracheobronchitis after bronchoscopy and successfully treated by proper antifungal treatment.