PURPOSE: This study was undertaken to provide the framework for development of a genetic counseling training program, and an accreditation and certification process suitable for non-M.D. genetic counselors in Korea. MATERIALS AND METHODS: Global standards of genetic counseling curriculums, training program accreditation (TPA), and the certification process for genetic counselors (CPGC) in the U.S.A and Japan were reviewed, and a questionnaire survey was performed to elicit opinions among health-care providers including physicians, nurses, technicians, researchers, and educators. In addition, input from professional communities, including the Korean Society of Medical Genetics (KSMG) and Institute for Genetic Testing Evaluation, was sought in formulating the framework of this study. RESULTS: Comparison of U.S.A. and Japan educational systems showed similarities in curriculum, accreditation, and certification programs. Analysis of 117 respondents opinions showed a high level of agreement in the area of global standards; 88% indicated that KSMG should be in charge of TPA and CPGC, while 77% favored a certification exam composed of both written exam and interview components. CONCLUSION: Based upon this study we propose that the KSMG should be in charge of providing the TPA and CPGC for non-MD genetic counselors. Requirements for the entrance to a Master's degree genetic counseling program should be open to successful four year undergraduate students in all areas, provided the candidates demonstrate the abilities to master the graduate level of study in human genetics, clinical genetics, statistics, psychology, and other required subjects. Eligibility for certification should include qualified candidates of genetic counseling with no formally approved education, but a sufficient amount of clinical experience, in addition to accredited program graduates. Certification examinations should be carried out every two years and the certification should be good for five years, as is the case in Japan.
Accreditation ; Certification ; Counseling ; Curriculum ; Surveys and Questionnaires ; Fees and Charges ; Genetic Counseling ; Genetic Testing ; Genetics, Medical ; Humans ; Japan ; Korea

The classic type of Kaposi's sarcoma, or multifocal hemorrhagic sarcoma histologically characterized by proliferating fibroblastic and microvascular elements was described by Kaposi as a relatively rare neoplasm. During the past nine years, we experienced three cases of sporadic, classic Kaposi's sarcomas. They were presented as multiple papules, macules and nodules on the skin of the hands, lower logs and feet without systemic involvement. Histologically, Kaposi's sarcoma is divided into three stages, early patch, plaque and nodular stages. The nodular lesions(case 1, 2 and 3) showed extensive proliferatiion of spindle shaped, somewhat pleomorphic cells having dark prominent nuclei, proliferation of small vessels with solid aggregates of endothelial cells, and extravasation of erythrocytes. In early patch stage(case 3), widely dilated, anastomosing, thin-walled vascular spaces are noted in the upper half of the dermis. In plaque stage(case I and 3), there are proliferation of spindle shaped cells with extravasated erythrocytes and aggregates of blood vessels lined by prominent endothelial cells.

Proliferating trichilemmal tumor is relatively rare, and is generally considered to be a benign tumor that can be histologically mistaken for well-differentiated squamous cell carcinoma. The proliferating trichilemmal tumor is thought to be a tumor with differentiation toward the hair structure because the characteristic trichilemmal keratinization in this tumor is analogous to that of the outer root sheath of anagen hair or the trichilemmal sac surrounding catagen hair. We report four cases of proliferating trichilemmal tumor removed by surgical excision.

BACKGROUND: Laser treatment in melasma has previously failed because of the resulting inflammation and consequent pigmentation and excessive thermal damage caused by the use of high fluence. OBJECTIVE: This study is aimed at establishing the concept of the collimated low fluence Q-switched Nd : YAG laser as a treatment for melasma by investigating its therapeutic effects clinically as well as histopathologically. METHODS: 27 patients were treated weekly with Q-switched Nd : YAG laser (1,064 nm wavelength, 7 mm spot size, 1.6~2.5 J/cm2 fluence) for 8 weeks. The results were evaluated based on standardized clinical images that used Robo skin analyzer, spectrophotometer, MASI score and general severity. RESULTS: 17 (58.8%) patients showed "GOOD" (50~75% improvement) and no case of full recurrence was examined and partial recurrence was detected in 12/17 patients. Common adverse effects include pain, erythema, and temporary edema. Rarely partial hypopigmented macules and diffuse hyperpigmentation appeared. Additional studies, such as immunohistochemical examination and electron microscopic examination, are also currently in progress. CONCLUSION: The collimated low fluence Q-switched Nd : YAG Laser is effective in melasma treatment. This treatment method is a new concept that can be described as selective photothermolysis with minimal thermal damage and inflammation reaction to affected tissues by pigmentation. We consider this treatment method should be regarded as Minimized Selective Photothermolysis (MSP) that will provide a new effective treatment for melasma.
Edema ; Electrons ; Erythema ; Humans ; Hyperpigmentation ; Inflammation ; Lasers, Solid-State ; Melanosis ; Pigmentation ; Recurrence ; Skin

BACKGROUND: Hypersensitivity to both cell-killing and chromosome-damaging effects of ionizing radiation is a consistent feature of cells from individuals with ataxia-telangiectasia (AT). This radiobiological behavior of AT cells is a component of genetic instability and may contribute to cancer risk. Also, heterozygotes for AT-mutated (ATM) genes have no clinical expressions of AT, but may become cancer prone with a moderate increase in in-vitro radiosensitivity. METHODS: We performed a chromosomal analysis on lymphocytes from 3 AT patients, 5 obligate AT carriers (siblings and parents of the patients), and 5 normal controls. RESULTS: Increases in chromosomal breakages after irradiation with 1 gray/min in cells from AT patients ranged from 0.65 to 0.83 rearrangements per metaphase, while in the carriers and controls the levels of breakage were between 0 and 0.15 per metaphase cells (P<0.05). CONCLUSIONS: These results are consistent with previously reported chromosomal radiosensitivity in AT patients. However, carriers do not show moderate radiosensitivity due to various technical factors such as the dose or distance of radiation. Although this research has some limitations due to the small numbers of patients, carriers and controls, this method may be an easy and useful diagnostic tool for AT patients in Korea. (J Korean Neurol Assoc 19(5):509~513, 2001)
Ataxia Telangiectasia* ; Ataxia* ; Chromosome Breakage ; Heterozygote ; Humans ; Hypersensitivity ; Korea ; Lymphocytes* ; Metaphase ; Parents ; Radiation Tolerance ; Radiation, Ionizing

OBJECTIVE: To investigate the clinical significance of endometrial thickness and pattan as a predictor of successful implantation of embryos in ovum donation and cryopreserved-thawed embryo transfer program. METHODS: From January, 1996 to March, 1998, 31 cycles of ovum donation and 31 cycles of cryopreserved-thawed embryo transfer were enrolled in this prospective study. Endometrial thickness was measured three times: prior to progesterone administration (P), 1 day and 3 days after P. In cryopreserved-thawed embryo transfer cycles, the measurement at 1 day after P was omitted. Endometrial pattern was observed prior to progesterone, and was considered meaningful when a multi-layered triple-line was seen with prominent outer and central hyperchogenic lines and inner hypoechogenic regions. RESULTS: There were no differences in embryo quality, dose or duration of estrogen, and endometrial thickness or pattern between conception and non-conception cycles in both ovum donation and cryapreserved-thawed embryo transfer pmgram. In ovum donation cycles, no cortelation was observed between estrogen dose and endometrial thickness or pattern. In cryopreserved-thawed embryo transfer cycles, total estrogen dose and endometral thickness at 3 days after P has a inverse correlation, and estrogen dose over 4.3 mg per day can predict expression of a multi-layered triple-line pattern, CONCLUSION: Endometrial thickness or pattern. cannot predict a successful implantaion of embryos in both ovum donation and cryopreserved-thawed embryo transfer cycles.
Embryo Transfer* ; Embryonic Structures* ; Estrogens ; Fertilization ; Oocyte Donation* ; Ovum* ; Progesterone ; Prospective Studies

PURPOSE: To determine useful diagnostic criteria of cubital tunnel syndrome (CTS), using ultrasonographic ulnar nerve cross-sectional areas (UNCSA) measurements. MATERIALS AND METHODS: The CTS group included 28 patients confirmed with nerve conduction study and the control group included 17 healthy adults. Ulnar nerve cross-sectional areas (UNCSA) were measured at the distal 1/3 upper arm level and in the cubital tunnel (CTN). US findings of CTS were ulnar nerve dislocation (n = 2), ulnar nerve subluxation (n = 5), ganglion (n = 1), sever elbow joint osteoarthritis (n = 1) and elbow joint valgus deformity after fracture (n = 1). UNCSA, the ratio of UNCSA in CTN to distal 1/3 upper arm level (CH ratio), and the difference of UNCSA between CTN and distal 1/3 upper arm level (CH difference) were evaluated to obtain the optimal diagnostic cutoff value of CTS, using ROC curve. RESULTS: The mean UNCSA in CTN was 0.168 cm2 in the CTS and 0.067 cm2 in the control. The CTS could be diagnosed when UNCSA, the CH ratio and the CH difference are larger than 0.096 cm2, 1.371 and 0.036 cm2 respectively. The ROC curve area was largest and the sensitivity, specificity was respectively 82.4%, 95.8%, when the CH difference was used as cutoff value. CONCLUSIONS: Ultrasound is useful for the detection of CTS pathogenic lesions in CTN. The highest diagnostic accuracy was acquired when the CH difference is larger than 0.036 cm2.
Adult ; Arm ; Congenital Abnormalities ; Cubital Tunnel Syndrome ; Dislocations ; Diterpenes ; Elbow Joint ; Ganglion Cysts ; Humans ; Neural Conduction ; Osteoarthritis ; ROC Curve ; Sensitivity and Specificity ; Ulnar Nerve

BACKGROUND: Korea is considered an iodine sufficient country, and several studies have been conducted regarding iodine status in healthy Korean adults, pregnant women, and preschool children. However, data on iodine status in Korean school-age children are lacking. Therefore, the iodine nutrition status of Korean school-age children was investigated by measuring urine iodine concentration (UIC). METHODS: This cross-sectional study conducted between April and September 2016 comprised 373 school-age children. UIC was determined using a modified microplate method employing ammonium persulfate digestion followed by Sandell-Kolthoff reaction. RESULTS: The median UIC was 458.2 µg/L. Excessive iodine intake (>300 µg/L) was found in 286 children (76.7%), with extremely high values exceeding 1,000 µg/L in 19.6% of subjects. Insufficient iodine intake (<100 µg/L) was observed in eight children (2.1%). UIC values were not significantly different between sexes. CONCLUSION: Korean school-age children showed excessive iodine intake. Therefore, education regarding adequate iodine intake in school-age children is needed.
Adult ; Ammonium Compounds ; Child* ; Child, Preschool ; Cross-Sectional Studies ; Digestion ; Education ; Female ; Humans ; Iodine* ; Korea* ; Methods ; Nutritional Status ; Pregnant Women

BACKGROUND: Hyperkalemic periodic paralysis (HYPP) is characterized by episodic flaccid paralysis of skeletal muscles that is exacerbated by the consumption of potassium-containing foods, fasting, or rest following exercise. HYPP is largely diagnosed based on clinical features and electrodiagnostic findings. METHODS: Seven patients from three families were assessed by interviews and clinical examinations. Standardized protocols comprising short and long exercise tests were applied to 15 unaffected control subjects and the 7 patients with familial HYPP. RESULTS: Exercise of short duration induced an immediate increase in the amplitude of the compound motor action potential (CMAP) in the patients, and this was significantly larger and lasted longer than that observed in controls within 50 seconds (p<0.05). A long exercise test induced a large increase in the CMAP amplitude in patients immediately after exercise completion, which decreased to normal values with 1 minute. In contrast, controls showed a decreased CMAP amplitude immediately after exercise, which subsequently also returned to the normal value. Precipitants of attacks were vigorous exercise and hunger in all patients, and cold and potassium-rich foods in five patients. All patients experienced clinical myotonia at the eyelids or lips. CONCLUSIONS: We conclude that exercise tests may be helpful in confirming abnormal excitability of muscle membranes in patients with HYPP. We have described the clinical and electromyographic characteristics in familial HYPP with the Met1592Val mutation in the SCN4A gene.
Action Potentials ; Cold Temperature ; Electromyography ; Exercise Test ; Eyelids ; Fast Foods ; Humans ; Hunger ; Lip ; Membranes ; Muscle, Skeletal ; Muscles ; Myotonia ; Paralysis ; Paralysis, Hyperkalemic Periodic ; Reference Values

OBJECTIVE: To identify cytogenetic diversity of Turner syndrome, and its correlation with clinical manifestation including fertility. METHOD: From 1986 to 1996, we reviewed medical records of 137 patients, cytogenetically and clinically diagnosed as Turner syndrome. Cytogenetic study was performed using peripheral lymphocytes with GTG banding. Marker chromosomes were re-evaluated by quinacrine staining. RESULTS: Overall incidence of mosaic pattern was 57.7% in Turner syndrome, showing 45,X line combined with structural anomalies of X chromosome(n=39), marker chromosome(n=22), numerical abnormalities of sex chromosome(n=6), and 46,XX(n=5). With comparison of clinical manifestation in 45,X/46,XX(n=5) and four most common pattern, 45,X(n=42), 45,X/46,X,i(Xq)(n=26), 45,X/46,X,+mar(n=22), 46,X,i(Xq)(n=9), there was no significant differences statistically, except short stature and diabetes. Incidence of short stature was significantly higher in 45,X or 46,X,i(Xq) than 45,X/46,XX(78.6%, 88.9%, 20.0%), and significant difference existed in incidence of diabetes between 45,X and 46,X,i(Xq)(0%, 22.2%). Sixteen patients had a history of marriage, but only one had a history of spontaneous conception and delivery with mosaic 45,X[2]/51,XXXXXXX[1]/46,XX[47]. CONCLUSION: The karyotypes of Turner syndrome was very variable, and about 60% had mosaicism. Patients with 45,X/46,XX had a significant lower incidence of short stature than in 45,X or 46,X,i(Xq), and 46,X,i(Xq) had a significant higher incidence of diabetes than in 45,X. We identified a woman with mosaic 45,X/51,XXXXXXX/46,XX was fertile.
Cytogenetics* ; Female ; Fertility ; Fertilization ; Humans ; Incidence ; Karyotype ; Lymphocytes ; Marriage ; Medical Records ; Mosaicism ; Quinacrine ; Turner Syndrome*