• Journal of Genetic Medicine
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• v.6 no.2
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• pp.131-145
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• 2009

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.

• The Journal of the Korean bone and joint tumor society
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• v.19 no.1
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• pp.20-27
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• 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
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• v.28 no.3
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• pp.369-373
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• 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.

• Korean Journal of Psychosomatic Medicine
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• v.27 no.2
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• pp.111-118
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• 2019

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.

• Journal of Service Research and Studies
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• v.9 no.4
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• pp.63-80
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• 2019

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.

• Archives of Craniofacial Surgery
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• v.13 no.1
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• pp.68-71
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• 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.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.16 no.2
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• pp.186-195
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• 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
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• v.12 no.2
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• pp.103-111
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• 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.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.288-291
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• 2018

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.

• Journal of the Korean Society of Radiology
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• v.79 no.5
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• pp.259-263
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• 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.