• 미생물학회지
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• 제50권4호
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• pp.265-274
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• 2014

장내 미생물은 사람의 장에 거주하는 미생물 집단으로 자신들의 효소를 이용해 사람에게 직접적인 에너지원이 되는 대사산물을 만들기도 하고 병원성 미생물의 침입에 대응하기도 하며 소화관의 구조와 기능유지 및 면역계의 발달에 영향을 미치는 등의 중요한 기능을 수행한다. 최근 다양한 분석기술을 통해 사람의 장에 있는 다종 및 다수의 미생물의 구성을 관찰하였고 그 결과 특정 질병을 지닌 사람의 장내 미생물 구성은 건강한 사람의 일반적인 구성과 다르다는 것을 확인하였다. 이러한 발견을 바탕으로 건강한 사람의 대변에 있는 장내 미생물을 질병을 지닌 수여자에게 이식하는 fecal microbiota transplantation (FMT) 시술이 각광을 받기 시작하였다. FMT는 장내 미생물의 구성변화로 인해 나타나는 여러 질병에 치료제로 적용할 수 있는데 특히 재발률이 높은 Clostridium difficile 감염에서 활발한 연구가 이루어지고 있다. 이 논문은 지금까지 밝혀진 장내 미생물과 관련된 질병들의 종류와 실제 질병에 FMT를 적용한 사례 등을 정리하고 장내 미생물을 이용하여 현재 연구개발 중인 치료제나 진단도구의 예를 기술함으로써 장내 미생물의 사람의 건강증진과 질병치료를 위한 차세대 생물학적 치료제로서의 가능성을 고찰하고자 한다.

• Journal of Gastric Cancer
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• 제15권1호
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• pp.39-45
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• 2015

Purpose: Recent studies have revealed recurrent alterations in the cell adhesion gene FAT4, a candidate tumor suppressor gene, in cancer. FAT atypical cadherin 4 (FAT4) is a transmembrane receptor involved in the Hippo signaling pathway, which is involved in the control of organ size. Here, we investigated the loss of FAT4 expression and its association with clinicopathological risk factors in gastric cancer. Materials and Methods: We assessed the expression of FAT4 by using immunohistochemistry on three tissue microarrays containing samples from 136 gastric cancer cases, radically resected in the Soonchunhyang University Cheonan Hospital between July 2006 and June 2008. Cytoplasmic immunoexpression of FAT4 was semi-quantitatively scored using the H-score system. An H-score of ${\geq}10$ was considered positive for FAT4 expression. Results: Variable cytoplasmic expressions of FAT4 were observed in gastric cancers, with 33 cases (24.3%) showing loss of expression (H-score <10). Loss of FAT4 expression was associated with an increased rate of perineural invasion (H-score <10 vs. ${\geq}10$, 36.4% vs. 16.5%, P=0.015), high pathologic T stage (P=0.015), high tumor-node-metastasis stage (P=0.017), and reduced disease-free survival time (H-score <10 vs. ${\geq}10$, mean survival $62.7{\pm}7.3$ months vs. $79.1{\pm}3.1$ months, P=0.025). However, no association was found between the loss of FAT4 expression and tumor size, gross type, histologic subtype, Lauren classification, lymphovascular invasion, or overall survival. Conclusions: Loss of FAT4 expression appears to be associated with invasiveness in gastric cancer.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.91-97
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• 2020

Purpose: Alport syndrome (AS) is one of the most common inherited renal diseases caused due to mutations of genes encoding specific proteins of the type IV collagen family, and its major clinical manifestations include progressive renal failure, sensorineural deafness, and ocular abnormalities. We investigated the clinical characteristics and long-term prognosis of AS in Korean pediatric and adult populations. Methods: We conducted a retrospective review of medical records of 33 children and adults who had been diagnosed or treated with AS from 1985 to 2019. Results: The mean age of the 33 patients diagnosed with AS was 16.2±13.6 years, and the male-to-female ratio was 2:1. At the first visit, recurrent gross hematuria was the most common initial symptom. In 10 of 33 patients (30.3%), sensorineural hearing loss (SNHL) was diagnosed, but none had ophthalmic problems. Moreover, 11 of 33 patients (33.3%) had advanced to end-stage renal disease (ESRD), and a significant difference was observed in the age of the patients who progressed to ESRD based on the presence or absence of SNHL (P=0.035). Conclusion: SNHL in AS can be an important prognostic factor for long-term deterioration of renal function. Further investigation is required to confirm the clinical course and the genetic characteristics of AS in Korea through prospective national cohort studies.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제47권4호
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• pp.239-248
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• 2021

The paper reviews various classifications and surgical techniques for the treatment of temporomandibular joint ankylosis. PubMed, EBSCO, Web of Science, and Google Scholar were searched using a combination of keywords. Articles related to classification, resection-reconstruction of the temporomandibular joint, and management of airway obstruction were considered and categorized based on the objectives. Seventy-nine articles were selected, which included randomized clinical trials, non-randomized controlled cohort studies, and case series. Though several classifications exist, most classifications are centered on the radiographic extent of the ankylotic mass and do not include the clinical and functional parameters. Hence there is a need for a comprehensive staging system that takes into consideration the age of the patient, severity of the disease, clinical, functional, and radiographic findings. Staging the disease will help the clinician to adopt a holistic approach in treating these patients. Interpositional arthroplasty (IA) results in better maximal incisal opening compared with gap arthroplasty, with no significant difference in recurrent rates. Distraction osteogenesis (DO) is emerging as a popular technique for the restoration of symmetry and function as well as for relieving airway obstruction. IA, with a costochondral graft, is recommended in growing patients and may be combined with or preceded by DO in cases of severe airway obstruction. Alloplastic total joint replacement combined with fat grafts and simultaneous osteotomy procedures are gaining popularity. A custom-made total joint prosthesis using CAD/CAM can efficiently overcome the shortcomings of stock prostheses.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.110-116
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• 2021

Microdeletions of chromosome 22q11.2 are one of the most common microdeletions occurring in humans, and is known to be associated with a wide range of highly variable features. These deletions occur within a cluster of low copy repeats (LCRs) in 22q11.2, referred to as LCR22 A-H. DiGeorge (DGS)/velocardiofacial syndrome is the most prevalent form of a 22q11.2 deletions, caused by mainly proximal deletions between LCR22 A and D. As deletions of distal portion to the DGS deleted regions has been extensively studied, the recurrent distal 22q11.2 microdeletions distinct from DGS has been suggested as several clinical entities according to the various in size and position of the deletions on LCRs. We report a case of long-term follow-up of a female diagnosed with a 22q11.2 distal deletion syndrome, identified a deletion of 1.9 Mb at 22q11.21q11.23 (chr22: 21,798,906-23,653,963) using single nucleotide polymorphism array. This region was categorized as distal deletion type of 22q11.2, involving LCR22 D-F. She was born as a preterm, low birth weight to healthy non-consanguineous Korean parents. She showed developmental delay, growth retardation, dysmorphic facial features, and mild skeletal deformities. The patient underwent a growth hormone administration due to growth impairment without catch-up growth. While a height gain was noted, she had become overweight and was subsequently diagnosed with pre-diabetes. Our case could help broaden the genetic and clinical spectrum of 22q11.2 distal deletions.

• 대한영상의학회지
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• 제81권3호
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• pp.530-548
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• 2020

갑상선 영상의학 진료란 갑상선 질환 환자를 영상의학적 방법을 활용하여 질병 진단과 중재적 치료를 하는 의료 행위로 정의될 수 있으며 주요 진료 대상은 갑상선 결절 질환 환자들이다. 갑상선 결절의 진단은 일차적으로 초음파 영상진단과 생검에 의해서 이루어지고 결절의 치료는 비수술적 중재적 치료와 갑상선절제술이다. 갑상선 낭종 혹은 낭성우세 양성 결절에서는 에탄올절제술이 일차적 치료법이고 고주파절제술은 고형 혹은 고형우세 양성 결절과 갑상선 재발암 치료에 적용되고 있다. 갑상선 영상의학 진료는 갑상선 결절 질환 환자의 진단 및 비수술적 치료의 대부분을 담당하는 중요한 임상적 역할을 가지고 있으며, 적절한 환자 진료를 위해서는 표준적 진료 지침에 근거하여 진료가 수행되어야 한다. 환자에게 최적의 갑상선 영상의학 진료를 제공하기 위해서는 영상의학과 외래에서 환자를 진료하는 것이 바람직하며 외래 중심의 갑상선 영상의학 진료를 확대하도록 함께 노력해야 할 시점이다.

• 대한유전성대사질환학회지
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• 제17권3호
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• pp.92-95
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• 2017

Fabry 병은 성염색체 연관 유전성 리소좀 대사 질환으로 ${\alpha}$-galactosidase A 를 코딩하는 GLA 유전자의 변이로 인한 ${\alpha}$-galactosidase A 효소의 결핍에 의해 발생한다. 이 질환은 globotriaosylceramide (GL-3) 및 관련된 글리코스핑고리피드(glycophospholipids)가 신장 사구체, 심근, 후근 신경절 및 자율 신경계, 혈관 내피 세포 및 평활근 등에 축적되어 사지 말단 동통, 신부전, 심부전 등의 다양한 임상양상을 보이게 된다. 대증적 요법으로만 치료하던 Fabry 병은 효소대체요법의 발전으로 신부전을 포함하여, 심각한 합병증의 예방 및 호전과 함께 질환의 예후를 향상시키고 있다. 또한 사지 말단 동통은 Fabry 병 환자들의 삶의 질을 특히 떨어뜨리며, 적절한 효소대체요법에 효과가 있는 것으로 알려져 있다. 저자들은 40대 후반에 Fabry 병을 진단받고 효소대체요법을 시작하여 사지 말단 동통이 호전된 중국인 남자 환자에 대해 보고하는 바이다.

• 치과방사선
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• 제29권2호
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• pp.549-559
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• 1999

Leiomyosarcoma is extremely rare in the oral cavity and especially in the mandible. At first. the case of this report was diagnosed as odontogenic fibroma but after approximately 3.5 years. it was diagnosed as leiomyosarcoma. Conventional radiograph of the first time showed an ill-defined radiolucent lesion in the mandible. After local recurrence. CT images showed a large irregular soft tissue mass with some necrotic areas. These findings were not specific for leiomyosarcoma, but they suggested that this lesion was a recurrent soft tissue sarcoma. Histopathological examinations using H & E staining, immunohistochemical staining and Masson's trichrome staining confirmed this case as leiomyosarcoma. Deciding its malignancy or benignancy, defining the tumor extent and its relationship to the surrounding anatomic structures, and evaluating the distant metastasis are more important roles of radiographic examination than finding out the name of disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권4호
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• pp.207-218
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• 2013

Long term outcomes after liver transplantation are major determinants of quality of life and of the value of this heroic treatment. As short term outcomes are excellent, our community is turning to take a harder look at long term outcomes. The purpose of this paper is to review these outcomes, and highlight proposed treatments, as well as pressing topics needing to be studied. A systemic review of the English literature was carried in PubMed, covering all papers addressing long term outcomes in pediatric liver transplant from 2000-2013. Late outcomes after pediatric liver transplant affect the liver graft in the form of chronic liver dysfunction. The causes include rejection particularly humoral rejection, but also de novo autoimmune hepatitis, and recurrent disease. The metabolic syndrome is a major factor in long term cardiovascular complication risk. Secondary infections, kidney dysfunction and malignancy remain a reality of those patients. There is growing evidence of late cognitive and executive function delays affecting daily life productivity as well as likely adherence. Finally, despite a good health status, quality of life measures are comparable to those of children with chronic diseases. Long term outcomes are the new frontier in pediatric liver transplantation. Much is needed to improve graft survival, but also to avoid systemic morbidities from long term immunosuppression. Quality of life is a new inclusive measure that will require interventions and innovative approaches respectful not only on the patients but also of their social circle.

• Advances in pediatric surgery
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• 제18권2호
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• pp.59-67
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• 2012

Fundoplication is a common surgical procedure for gastroesophageal reflux Disease (GERD). Recently the procedure has been performed with increased frequency laparoscopically. The aim of this study is to compare laparoscopic Nissen fundoplication (LNF) and open Nissen fundoplication (ONF) for GERD in children. We studied retrospectively the 88 pediatric patients who underwent the Nissen fundoplication for GERD as primary antireflux surgery from 1994 and 2009. ONF was performed in 34 cases and LNF was in 54 cases. 58 patients have neurologic impairment. Time to initial food intake after the surgery were reduced in the LNF group (p= 0.032). Recurrent GERD symptom occurred in one patient in LNF group and four patients in ONF group within 1 year after the surgery (p= 0.012). There were no statistically significant differences in post operative morbidity and mortality between both groups. In conclusion, our practice of Nissen fundoplication indicates that LNF takes priority in most pediatric patients.