Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples who are at risk that enables them to have unaffected baby without facing the risk of pregnancy termination after invasive prenatal diagnosis. The molecular biology and technology for single-cell genetics has reached an extremely high level of accuracy, and has enabled the possibility of performing multiple diagnoses on one cell using whole genome amplification. These technological advances have contributed to the avoidance of misdiagnosis in PGD for single gene disorders. Polymerase chain reaction (PCR)-based PGD will lead to a significant increase in the number of disorders diagnosed and will find more widespread use, benefiting many more couples who are at risk of transmitting an inherited disease to their baby. In this review, we will focus on the molecular biological techniques that are currently in use in the most advanced centers for PGD for single gene disorders, including biopsy procedure, multiplex PCR and post-PCR diagnostic methods, and multiple displacement amplification (MDA) and the problems in the single cell genetic analysis.
Song, Won Seok;Jeon, Dae-Geun;Cho, Wan Hyeong;Kong, Chang Bae;Cho, Sang Hyun;Lee, Kwang Ryul;Lee, Soo-Yong
The Journal of the Korean bone and joint tumor society
/
v.19
no.1
/
pp.20-27
/
2013
Purpose: The purpose of this study was to evaluate the oncologic outcomes of parosteal osteosarcoma (POS) and to ascertain the fates of patients after local recurrence (LR). Materials and Methods: The authors retrospectively reviewed 22 POS patients with an average follow-up of 114 months (range: 36-235 months). Seven of the 22 patients were referred after LR. There were 17 Stage IB and 5 Stage IIB (G2, 2; dedifferentiation, 3). Tumors were located in the femur (11) and in other locations (11). Initial surgical margins were wide in 10, marginal in 5, and intralesional in 7. Correlations between clinico-pathologic variables and LR and clinical courses after LR were evaluated. Results: The 10-year overall survival rate was 85.7%. Three (14%) patients developed distant metastasis and all of them succumbed to the disease. Nine (41%) patients developed LR. Tumor location, resection type, and surgical margin were found to be correlated with LR. At final follow-up, 7 of the 9 patients that experienced local failure achieved no evidence of disease. Conclusion: A substantial risk of misdiagnosis exists, especially for POS in other than a femoral location. Recurrent tumor re-excision is possible in most cases; however, patients with an aggressive recurrence pattern deserve special attention.
Journal of the korean academy of Pediatric Dentistry
/
v.28
no.3
/
pp.369-373
/
2001
The congenital missing of mandibular second premolars is among the common dental anomaly in children. When a second premolar is diagnosed as congenitally missed, we should consider many factors influencing the treatment plan such as patient's age, states of roots of 2nd primary molar, degree of crowding, skeletal growth pattern, facial profile, procumbency of the incisor and lower facial height, etc. The mineralization of the second premolars begins in the majority of cases at the age of $2\sim2\frac{1}{2}$ years, but this period varies more widely than those for other permanent teeth. Also, mandibular second premolars show the greatest variations in differentiation and calcification. For this reason, aplasia of this group of teeth cannot be diagnosed at early age and with the same degree of certainty. From the clinical studies with 2 cases and some literature review on late development of second premolars, it could be summarized as follows : 1. The 2 cases showed marked delay in the development of mandibular second premolars. 2. After the crypt formation, the speed of calcification seemed nearly normal, suggesting that the delay was due to differentiation rather than calcification. 3. When one is encountered with similar conditions, it would be desirable to consider the possibility of delayed tooth development.
Objectives : The purpose of this study was to investigate the clinical characteristics of antipsychotic medication prescription for the symptom control in patients with delirium. Methods : One hundred and eighty-five patients referred to consultation-liaison psychiatric services for delirium due to general medical condition were included in this study. All subjects were divided into two groups (antipsychotics users vs. antipsychotics nonusers), and comparison analyses on their clinical characteristics were performed. Results : One hundred and twenty nine patients (66.5%) used antipsychotics for their delirium, and 56 patients (30.3%) did not use antipsychotics. The history of psychotropic medication was more frequently observed in antipsychotic users (5.4% vs. 18.6%, χ2=5.498, p=0.022). Especially, the history of benzodiazepine use was significantly high in antipsychotics users. The total score and sub-items of delirium rating scale-severity items except for the psychomotor retardation item showed higher scores in antipsychotic users than in nonusers (all p<0.05). The total score of the delirium rating scale-diagnosis items was higher in antipsychotic users than in the nonusers (p=0.010). Conclusions : Delirium patients with more severe delirium symptoms and with more history of benzodiazepine use were treated with antipsychotics more frequently than those without. These findings imply that benzodiazepine may not only exacerbate delirium but be associated with aggression or psychomotor agitation that need immediate intervention. Clinicians may need to pay attention not only these external symptoms but also to hypoactive symptoms that may lead to misdiagnosis and undertreatment.
This study presents strategic implications for enhancing the competitiveness of the comprehensive health examination center through the study of its impact on the switching barrier with medical service value and medical service satisfaction as parameters. In order to achieve the purpose of this study, a total of 324 questionnaires were analyzed for customers who received health examinations at the general examination center. Covariance structure analysis was performed to test hypotheses and causal relationships. The results showed that the physical environment had a significant effect on the medical service value and medical service satisfaction. The value of medical service also had a significant effect on medical service satisfaction. The value of medical service was found to affect the transition barrier, but the satisfaction of medical service did not affect the transition barrier. The implications of this study are that physical environment has a significant effect on medical service value and medical service satisfaction. Therefore, modern medical equipment should be equipped with the latest medical equipment to minimize accurate examination and misdiagnosis through modernization of medical examination center. In addition, since the value of medical service has a significant effect on the switching barrier, it is necessary to establish a plan to enhance the value of medical service. We need to promote sustainable customer retention and creation of new customers through differentiated screening items and cost advantages over competitors. In addition to check-up services, efforts should be made to enhance the value of services such as strengthening medical communication and medical complex cultural spaces, and at the same time, establish an organizational culture of customer-first examination centers through the placement of excellent personnel and continuous education.
Kim, Hong Il;Hwang, So Min;Ahn, Sung-Min;Lim, Kwang Ryeol;Jung, Yong Hui;Song, Jennifer K.;Jeong, Jae Yong
Archives of Craniofacial Surgery
/
v.13
no.1
/
pp.68-71
/
2012
Purpose: Eczema herpeticum, caused by herpes simplex virus, is an infectious disease involving skin and internal organs. Varieties of physiologic, psychosocial, or environmental stress reactivate reservoir virus which exists in the trigeminal nerve ganglia. Authors report rare cases of nasal eczema herpeticum following corrective rhinoplasty. Methods: First case, 22-year-old female underwent corrective rhioplasty through an external approach in a local clinic. She developed progressive and painful erythema, nodules and vesicles on nose on the 9th day postoperatively. This unfamiliar lesion lead to a misdiagnosis as a bacterial infection, and had accelerated its progress to the trigeminal innervation of the nasal unit. Second case, a 23-year-old female underwent corrective rhinoplasty by external lateral osteotomy. Ten days after the surgery, disruption occurred on the external osteotomy site, and the ulceration gradually worsened. The surgeon misdiagnosed it as secondary bacterial infection and only an antibacterial agent was applied. Results: Both cases were healed effectively without any complication with proper wound dressing and antiviral therapy, and show no sequelae during an 8-month follow-up period. Conclusion: Eczema herpeticum is rare in the field of plastic surgery, but it should be kept in mind that secondary bacterial infections may lead to serious complications such as full-thickness skin loss. Thus, acknowledgement of the patient's past history regarding perioral or intraoral lesion may provide the surgeon with the possible expectancy of eczema herpeticum. Thus, if anyone develops eczema herpeticum, following facial plastic surgery, early diagnosis and immediate proper antiviral therapy will allow fast recovery without serious complications.
Kim, Young-Jo;Lee, Dong-Keun;Um, In-Woong;Min, Seung-Ki;Chung, Chang-Joo;Kim, Eun-Cheol
Maxillofacial Plastic and Reconstructive Surgery
/
v.16
no.2
/
pp.186-195
/
1994
Fibromatosis is benign fibroblastic proliferative lesion with abundant collagenous neo-formation located principally in the abdominal wall and in the upper and lower extremities (Masson & Soule, 1966). Wilkins and Waldron, in 1975, suggested that the title aggressive fibromatosis was a more appropriate term, reflecting the invasive characteristics of the disease. Synonyms listed were extra-abdominal desmoid, juvenile fibromatosis, aggressive infantile fibromatosis and congenital fibrosarcoma. A total of 12% of all fibromatosis arise in head and neck. Fibromatosis of the oral cavity is uncommon and is even more rare when in involve the mandibule. It is a locally aggressive fibrous tissue tumor, generally does not metastasize, but may cause considerable morbility and even death due to local infiltration. The degree of microscopic cellularity is variable, not only from tumor to tumor but also from area to area in the same tumor. Some tumors present with proliferation of mature fibroblasts and a dominating collagenous component : others may show a lack of the tumor in both types. The common histologic denominator appears to be cellular interlacing bundles of elongated fibroblasts, showing little or no mitotic activity and no pleomorphism. Mitosis are not a consistent index of malignancy when found in younger age groups. Fibromatosis still posses difficult problems of diagnosis and treatment. It is frequently recurrent and infliltrates neighbouring tissues. These lesion infliltrate widely and replace muscle, fat, and even bone with fibrous tissue of varying cellularity. Lesion representing fibromatosis in the oral cavity must be carefully evaulated by both surgeon and pathologists to ensure proper diagnosis and treatment planning. When these lesions involve bone, surgeon must be aware of the lesion's potential to perforate the cortex and expand while remaining hidden from the surgeon's view. Careful and precise clinical correlation with histologic appearance is essential to preclude misdiagnosis of fibrosarcoma yet provide surgical treatment plan that provides adequate local excision and long-term follow up. As regards cause, little is known. It is attributed to trauma or alteration in the sex hormone(Carlos, et al, 1986). Clinially, the lesion is reported to be not painful in most cases, but capable of rapid growth. The treatment is essentially surgical excision with wide margin of adjacent uninvolved tissue. Radiotherapy, hormone treatment or chemotherapy are of no use (WIkins et al, 1975 ; Majumudar and Winiarkl, 1978). We report a case of aggressive fibromatosis of 15-year-old with a lesion in the soft tissue of the parotid area that invaded the underlying bone of the mandibular body.
The Journal of the Korean bone and joint tumor society
/
v.12
no.2
/
pp.103-111
/
2006
Purpose: Sternocostoclavicular hyperostosis (SCCH) is a disease of unknown etiology, which is characterized by periosteal reaction and endosteal hyperossification of the sternum, clavicles and upper ribs as well as ossification of the surrounding soft tissue. SCCH is a well recognized but uncommon condition which is important differential diagnosis to consider to avoid misdiagnosis and to differentiate the condition from malignant process. But few studies have reported long-term clinical result of SCCH. We report long-term clinical result of SCCH. Materials and Methods: From 1986 to 2000, 17 cases of SCCH were followed up over two to 14 years. We evaluated the radiologic, pathologic and clinical results. Results: Four men and thirteen women were studied. The age when first symptom appeared were raged from17 to 60(average-48.7) There are no specific bacteriological, serological or histological finding. Usually a permanent increase in the erythrocyte sedimentation rate is found. The radiological examination showed the signs of proliferate destructive arthritis in most case. The majority of patients respond to NSAIDs and antibiotics. Conclusion: Sternocostoclavicular hyperostosis is uncommon benign condition, but important condition in the differential diagnosis of inflammatory or malignant process of this joint.
Hemiplegic migraine (HM) is a rare subtype of migraine with aura and is accompanied by a fully reversible motor aura. HM can occur in two forms: familial or sporadic. Currently, three genes are related to familial HM. Typically, HM occurs in the first or second decade of life and involves gradually progressing aura symptoms in succession, accompanied by headaches. The aura includes visual, sensory, motor, aphasic and often basilar-type symptoms. Motor aura (weakness) is related to the regions where the sensory aura is involved, and it usually starts at the hand before spreading to the arm and face. Aphasia is a common form of speech aura, but does not typically present as a difficulty in understanding. In this case report, the sensory-motor aura started at the right face and then gradually progressed to the right leg without any symptoms in the ipsilateral upper extremity. To the best of my knowledge, there has been no previous case report for the presentation of a hemiplegic migraine, as in this case report. As there is a possibility of misdiagnosis of Bell's palsy at the early stage of this case, this case report suggests that a physician should consider the rare possibility of stroke or HM when a patient presents with unilateral facial palsy.
Lee, Gyoung-Eun;Kim, Ji-Young;Kim, Jae Hyung;Jeong, Myeong Ja;Kim, Soung Hee;Kim, Soo Hyun;Kang, Mi-Jin;Lee, Ji Hae;Bae, Kyung-Eun;Kim, Tae Gyu
Journal of the Korean Society of Radiology
/
v.79
no.5
/
pp.259-263
/
2018
A 52-year-old male complained of a painless, firm, and slow-growing mass in his right breast outer portion. The chest CT revealed a 3.3 cm-sized oval shaped, microlobulated, mild enhancing mass. Ultrasound showed a microlobulated marginated heterogeneous hypoechoic mass with internal vascularity and calcifications in the mass. On the ultrasound-guided core needle biopsy, the mass was confirmed as a benign granular cell tumor (GCT). The patient transferred to another hospital and underwent surgical removal of the lesion. GCT of the breast is uncommon and mostly benign neoplasm to originate from Schwann cell. Clinical and radiologic features of GCTs, including CT and ultrasound images, mimic malignancy and make diagnosis of GCT more difficult. The CT images of GCTs are much rarely reported. Physicians and radiologists must be aware of radiologic characteristics of this rare benign tumor for male breast, to avoid misdiagnosis this tumor for breast malignancy and overtreat.
본 웹사이트에 게시된 이메일 주소가 전자우편 수집 프로그램이나
그 밖의 기술적 장치를 이용하여 무단으로 수집되는 것을 거부하며,
이를 위반시 정보통신망법에 의해 형사 처벌됨을 유념하시기 바랍니다.
[게시일 2004년 10월 1일]
이용약관
제 1 장 총칙
제 1 조 (목적)
이 이용약관은 KoreaScience 홈페이지(이하 “당 사이트”)에서 제공하는 인터넷 서비스(이하 '서비스')의 가입조건 및 이용에 관한 제반 사항과 기타 필요한 사항을 구체적으로 규정함을 목적으로 합니다.
제 2 조 (용어의 정의)
① "이용자"라 함은 당 사이트에 접속하여 이 약관에 따라 당 사이트가 제공하는 서비스를 받는 회원 및 비회원을
말합니다.
② "회원"이라 함은 서비스를 이용하기 위하여 당 사이트에 개인정보를 제공하여 아이디(ID)와 비밀번호를 부여
받은 자를 말합니다.
③ "회원 아이디(ID)"라 함은 회원의 식별 및 서비스 이용을 위하여 자신이 선정한 문자 및 숫자의 조합을
말합니다.
④ "비밀번호(패스워드)"라 함은 회원이 자신의 비밀보호를 위하여 선정한 문자 및 숫자의 조합을 말합니다.
제 3 조 (이용약관의 효력 및 변경)
① 이 약관은 당 사이트에 게시하거나 기타의 방법으로 회원에게 공지함으로써 효력이 발생합니다.
② 당 사이트는 이 약관을 개정할 경우에 적용일자 및 개정사유를 명시하여 현행 약관과 함께 당 사이트의
초기화면에 그 적용일자 7일 이전부터 적용일자 전일까지 공지합니다. 다만, 회원에게 불리하게 약관내용을
변경하는 경우에는 최소한 30일 이상의 사전 유예기간을 두고 공지합니다. 이 경우 당 사이트는 개정 전
내용과 개정 후 내용을 명확하게 비교하여 이용자가 알기 쉽도록 표시합니다.
제 4 조(약관 외 준칙)
① 이 약관은 당 사이트가 제공하는 서비스에 관한 이용안내와 함께 적용됩니다.
② 이 약관에 명시되지 아니한 사항은 관계법령의 규정이 적용됩니다.
제 2 장 이용계약의 체결
제 5 조 (이용계약의 성립 등)
① 이용계약은 이용고객이 당 사이트가 정한 약관에 「동의합니다」를 선택하고, 당 사이트가 정한
온라인신청양식을 작성하여 서비스 이용을 신청한 후, 당 사이트가 이를 승낙함으로써 성립합니다.
② 제1항의 승낙은 당 사이트가 제공하는 과학기술정보검색, 맞춤정보, 서지정보 등 다른 서비스의 이용승낙을
포함합니다.
제 6 조 (회원가입)
서비스를 이용하고자 하는 고객은 당 사이트에서 정한 회원가입양식에 개인정보를 기재하여 가입을 하여야 합니다.
제 7 조 (개인정보의 보호 및 사용)
당 사이트는 관계법령이 정하는 바에 따라 회원 등록정보를 포함한 회원의 개인정보를 보호하기 위해 노력합니다. 회원 개인정보의 보호 및 사용에 대해서는 관련법령 및 당 사이트의 개인정보 보호정책이 적용됩니다.
제 8 조 (이용 신청의 승낙과 제한)
① 당 사이트는 제6조의 규정에 의한 이용신청고객에 대하여 서비스 이용을 승낙합니다.
② 당 사이트는 아래사항에 해당하는 경우에 대해서 승낙하지 아니 합니다.
- 이용계약 신청서의 내용을 허위로 기재한 경우
- 기타 규정한 제반사항을 위반하며 신청하는 경우
제 9 조 (회원 ID 부여 및 변경 등)
① 당 사이트는 이용고객에 대하여 약관에 정하는 바에 따라 자신이 선정한 회원 ID를 부여합니다.
② 회원 ID는 원칙적으로 변경이 불가하며 부득이한 사유로 인하여 변경 하고자 하는 경우에는 해당 ID를
해지하고 재가입해야 합니다.
③ 기타 회원 개인정보 관리 및 변경 등에 관한 사항은 서비스별 안내에 정하는 바에 의합니다.
제 3 장 계약 당사자의 의무
제 10 조 (KISTI의 의무)
① 당 사이트는 이용고객이 희망한 서비스 제공 개시일에 특별한 사정이 없는 한 서비스를 이용할 수 있도록
하여야 합니다.
② 당 사이트는 개인정보 보호를 위해 보안시스템을 구축하며 개인정보 보호정책을 공시하고 준수합니다.
③ 당 사이트는 회원으로부터 제기되는 의견이나 불만이 정당하다고 객관적으로 인정될 경우에는 적절한 절차를
거쳐 즉시 처리하여야 합니다. 다만, 즉시 처리가 곤란한 경우는 회원에게 그 사유와 처리일정을 통보하여야
합니다.
제 11 조 (회원의 의무)
① 이용자는 회원가입 신청 또는 회원정보 변경 시 실명으로 모든 사항을 사실에 근거하여 작성하여야 하며,
허위 또는 타인의 정보를 등록할 경우 일체의 권리를 주장할 수 없습니다.
② 당 사이트가 관계법령 및 개인정보 보호정책에 의거하여 그 책임을 지는 경우를 제외하고 회원에게 부여된
ID의 비밀번호 관리소홀, 부정사용에 의하여 발생하는 모든 결과에 대한 책임은 회원에게 있습니다.
③ 회원은 당 사이트 및 제 3자의 지적 재산권을 침해해서는 안 됩니다.
제 4 장 서비스의 이용
제 12 조 (서비스 이용 시간)
① 서비스 이용은 당 사이트의 업무상 또는 기술상 특별한 지장이 없는 한 연중무휴, 1일 24시간 운영을
원칙으로 합니다. 단, 당 사이트는 시스템 정기점검, 증설 및 교체를 위해 당 사이트가 정한 날이나 시간에
서비스를 일시 중단할 수 있으며, 예정되어 있는 작업으로 인한 서비스 일시중단은 당 사이트 홈페이지를
통해 사전에 공지합니다.
② 당 사이트는 서비스를 특정범위로 분할하여 각 범위별로 이용가능시간을 별도로 지정할 수 있습니다. 다만
이 경우 그 내용을 공지합니다.
제 13 조 (홈페이지 저작권)
① NDSL에서 제공하는 모든 저작물의 저작권은 원저작자에게 있으며, KISTI는 복제/배포/전송권을 확보하고
있습니다.
② NDSL에서 제공하는 콘텐츠를 상업적 및 기타 영리목적으로 복제/배포/전송할 경우 사전에 KISTI의 허락을
받아야 합니다.
③ NDSL에서 제공하는 콘텐츠를 보도, 비평, 교육, 연구 등을 위하여 정당한 범위 안에서 공정한 관행에
합치되게 인용할 수 있습니다.
④ NDSL에서 제공하는 콘텐츠를 무단 복제, 전송, 배포 기타 저작권법에 위반되는 방법으로 이용할 경우
저작권법 제136조에 따라 5년 이하의 징역 또는 5천만 원 이하의 벌금에 처해질 수 있습니다.
제 14 조 (유료서비스)
① 당 사이트 및 협력기관이 정한 유료서비스(원문복사 등)는 별도로 정해진 바에 따르며, 변경사항은 시행 전에
당 사이트 홈페이지를 통하여 회원에게 공지합니다.
② 유료서비스를 이용하려는 회원은 정해진 요금체계에 따라 요금을 납부해야 합니다.
제 5 장 계약 해지 및 이용 제한
제 15 조 (계약 해지)
회원이 이용계약을 해지하고자 하는 때에는 [가입해지] 메뉴를 이용해 직접 해지해야 합니다.
제 16 조 (서비스 이용제한)
① 당 사이트는 회원이 서비스 이용내용에 있어서 본 약관 제 11조 내용을 위반하거나, 다음 각 호에 해당하는
경우 서비스 이용을 제한할 수 있습니다.
- 2년 이상 서비스를 이용한 적이 없는 경우
- 기타 정상적인 서비스 운영에 방해가 될 경우
② 상기 이용제한 규정에 따라 서비스를 이용하는 회원에게 서비스 이용에 대하여 별도 공지 없이 서비스 이용의
일시정지, 이용계약 해지 할 수 있습니다.
제 17 조 (전자우편주소 수집 금지)
회원은 전자우편주소 추출기 등을 이용하여 전자우편주소를 수집 또는 제3자에게 제공할 수 없습니다.
제 6 장 손해배상 및 기타사항
제 18 조 (손해배상)
당 사이트는 무료로 제공되는 서비스와 관련하여 회원에게 어떠한 손해가 발생하더라도 당 사이트가 고의 또는 과실로 인한 손해발생을 제외하고는 이에 대하여 책임을 부담하지 아니합니다.
제 19 조 (관할 법원)
서비스 이용으로 발생한 분쟁에 대해 소송이 제기되는 경우 민사 소송법상의 관할 법원에 제기합니다.
[부 칙]
1. (시행일) 이 약관은 2016년 9월 5일부터 적용되며, 종전 약관은 본 약관으로 대체되며, 개정된 약관의 적용일 이전 가입자도 개정된 약관의 적용을 받습니다.