Waardenburg syndrome is a very rare auditory-pigment syndrome with autosomal dominant inheritance. In his first report in 1951, Waardenburg characterized this syndrome as dystopia canthorum, a high broad nasal bridge, synophrys[confluent eyebrows], heterochromia iridid, a white forelock or early graying, and sensory neural deafness. We observed a case of Type 2 Waardenburg syndrome with openangle glaucoma and, therefore report with literature review.
Deafness ; Glaucoma ; Glaucoma, Open-Angle* ; Waardenburg Syndrome* ; Wills

Local excision and axillary dissection followed by radiation therapy to the breast has been shown to achieve equivalent local control and survival as mastectomy in an prospective randomized trials. We analyzed 28 cases of early breast cancer in order to evaluate the therapeutic effects of conservative f surgery and definitive radiotherapy in the management of early breast cancer as possible alternative of simple mastectomy, retrospectively. Obtained results were as follows 1. Treatment related acute side reactions are more prominant in the case of chemoradiotherapy group than radiotherapy alone group. 2. There were no cases of primary, regional or systemic failures on the last follow up examination. 3. Cosmetic results after treatment were satisfactory in 26 cases out of 28 cases on the last follow up examination. 4. There were no demonstrable differences of tumor control and cosmetic results between the treatment groups. Although, these results suggested that definitive radiotherapy after local excision would be a possible and desirable alternative instead of total mastectomy in the management of early breast cancers, analyzed cases were too small and follow up period was too short to evaluate the therapeutic effect of primary radiotherapy after local excision, exactly.
Breast ; Breast Neoplasms ; Chemoradiotherapy ; Follow-Up Studies ; Mastectomy ; Mastectomy, Simple ; Prospective Studies ; Radiotherapy* ; Retrospective Studies

OBJECTIVE: Great advances have been made in the field of assisted reproductive technology (ART) since the first in vitro fertilization (IVF) baby was born in Korea. This study was designed to report on the current status of ART therapy in South Korea between January 1 and December 31 of 2010. METHODS: A revised survey, originally developed by the International Committee Monitoring Assisted Reproductive Technologies, was sent to all available ART centers via email in 2013. Fresh embryo transfer (FET) cases were categorized into standard IVF or intracytoplasmic sperm injections. These cases, the thawing embryo transfer (TET) cases, and other related procedures were surveyed. RESULTS: Data from 30,785 ART procedures were provided by 78 clinics. Of the 28,200 cycles in which oocytes were retrieved, 92.2% of these cycles were completely transferred. In addition, 8,075 cycles were confirmed to be clinical pregnancies in the FET cycles, which represent a pregnancy rate of 28.6% per oocyte pick-up and 31.1% per embryo transfer. The most common number of embryos transferred in the FET was three embryos (37.3%) followed by two embryos (36.3%) and one embryo (14.0%). Of the 6,648 TET cycles transferred, 2,356 clinical pregnancies were confirmed by ultrasonography. The most common number of embryos in the TET group was two embryos (43.4%) followed by three embryos (25.4%) and one embryo (18.9%). CONCLUSION: The clinical pregnancy rate per transfer in the FET cycles was similar in 2009 and 2010. Among the FET cycles where one or two embryos were transferred, the clinical pregnancy rate per transfer slightly increased from 2009 (28.7%) to 2010 (32.9%).
Art Therapy ; Electronic Mail ; Embryo Transfer ; Embryonic Structures ; Fertilization in Vitro ; Korea ; Oocytes ; Pregnancy ; Pregnancy Rate ; Reproductive Techniques, Assisted* ; Sperm Injections, Intracytoplasmic ; Ultrasonography

OBJECTIVE: The number of assisted reproductive technology (ART) clinics, ART cycles, clinical pregnancy rate (CPR), and number of newborns conceived using ART have steadily increased in South Korea. This aim of this study was to describe the status of ART in South Korea between January 1 and December 31, 2011. METHODS: A localized online survey was created and sent to all available ART centers via email in 2015. Fresh embryo transfer (FET) cases were categorized depending on whether standard in vitro fertilization, intracytoplasmic sperm injection (ICSI), or half-ICSI procedures were used. Thawed embryo transfer (TET) and other related procedures were surveyed. RESULTS: Data from 36,990 ART procedures were provided by 74 clinics. Of the 30,410 cycles in which oocytes were retrieved, a complete transfer was performed in 91.0% (n=27,683). In addition, 9,197 cycles were confirmed to be clinical pregnancies in the FET cycles, representing a pregnancy rate of 30.2% per oocyte pick-up and 33.2% per ET. The most common number of embryos transferred in the FET procedures was three (38.1%), followed by two (34.7%) and one (14.3%). Of the 8,826 TET cycles, 3,137 clinical pregnancies (31.1%) were confirmed by ultrasonography. CONCLUSION: While the overall clinical pregnancy rate for the TET cycles performed was lower than the rate reported in 2010 (31.1% vs. 35.4%), the overall CPR for the FET cycles was higher than in 2010 (33.2% in 2011 and 32.9% in 2010). The most common number of embryos transferred in FET cycles was three, as was the case in 2010.
Cardiopulmonary Resuscitation ; Electronic Mail ; Embryo Transfer ; Embryonic Structures ; Fertilization in Vitro ; Humans ; Infant, Newborn ; Korea* ; Oocytes ; Pregnancy ; Pregnancy Rate ; Reproductive Techniques, Assisted* ; Sperm Injections, Intracytoplasmic ; Ultrasonography

OBJECTIVE: This study was designed to report the status of assisted reproductive technology (ART) therapy in South Korea between January 1, 2012 and December 31, 2012. METHODS: A localized online survey, originally developed by the International Committee Monitoring Assisted Reproductive Technologies, was first launched and provided to all available ART centers via email in 2015. Fresh embryo transfer (FET) cases were categorized as standard in vitro fertilization, intracytoplasmic sperm injection (ICSI), or half-ICSI. Thawed embryo transfer (TET) and other related procedures, including surgical sperm retrieval, were surveyed. RESULTS: Data from 33,956 ovum pick-up procedures were provided by 75 clinics in 2012. Of the 33,088 cycles in which ovums were retrieved, a complete transfer was performed in 90.5% (29,932 cycles). In addition, 10,079 FET cycles were confirmed to have resulted in clinical pregnancy, representing a pregnancy rate of 30.5% per ovum pick-up and 33.7% per ET. The most common number of embryos transferred in FET was 2 (41.6%), followed by 3 (34.0%), and non-elective single ETs (10.0%). Of the 10,404 TET cycles in which transfer was completed, 3,760 clinical pregnancies (36.1%) were confirmed by ultrasonography. CONCLUSION: The overall clinical pregnancy rate for FET and TET cycles in 2012 was higher than in 2011 (33.7% vs. 33.2% and 36.1% vs. 31.1%, respectively). The most common number of embryos transferred in FET cycles was 2, unlike in 2011.
Electronic Mail ; Embryo Transfer ; Embryonic Structures ; Fertilization in Vitro ; Korea* ; Ovum ; Pregnancy ; Pregnancy Rate ; Reproductive Techniques, Assisted* ; Sperm Injections, Intracytoplasmic ; Sperm Retrieval ; Ultrasonography

No abstract available.
Magnetic Resonance Imaging* ; Spinal Cord*

PURPOSE: The purpose of this study was to analyze the characteristic MR findings of childhood metachromatic leukodystrophy. MATERIALS AND METHODS: Five female patients (10--29 months old;mean age, 21.8 months) of biochemically confirmed metachromatic leukodystrophy were included in this study. We evaluated the extent of white matter degeneration, which was shown as high signal intensity on T2-weighted image, and the presence or absence of the enhancement. Result.' All 5 cases showed high signal intensity in periventricular deep white matter and centrum semiovale which were bilateral, symmetric and confluent. Posterior predominace, sparing of subcortical U fibers and immediate periventricular white matter, and the involvement of splenium of corpus callosum were also noted in all cases. There were other manifestations, such as 'tigroid pattern' in centrum semiovale (n=4), the involvement of genu of corpus callosum(n=4), posterior limb of internal capsule(n=4), descending pyramidal tracts (n=3), deep cerebellar white matter(n=1), claustrum(n=2), and diffuse brain atrophy(n=1). In three cases with Gd-infusion, contrast enhancement of the lesion was not seen. CONCLUSION: In childhood metachromatic leukodystrophy, MRI can clearly demonstrate the chracteristic extent of the white matter lesion and other associated findings, facilitating the differential diagnosis from other similar leukodystrophies.
Brain ; Corpus Callosum ; Diagnosis, Differential ; Extremities ; Female ; Humans ; Leukodystrophy, Metachromatic* ; Magnetic Resonance Imaging* ; Pyramidal Tracts

PURPOSE: The purpose of this study was to describe the MR findings of the spectrum of the Currarino triad and to discuss the potential role of MR imaging in evaluating these anomalies. MATERIALS AND METHODS: Seven children (age range: 2-12 months) with Currarino triad were evaluated using MR imaging, plain radiography, and barium study. In addition, CT scans (n=3) and sonography (n=2) were performed. We retrospectively analyzed MR imaging findings and correlated these with the findings of other imaging modalities. RESULTS: Anorectal anomalies included anorectal stenosis in five patients and an imperforate anus in two. MR imaging findings of anorectal stenosis included an elongated thick-walled anorectal canal and dilatation of the proximal segment of the rectum. In the patients with an imperforate anus, the location of the blind rectal pouch and sphincteric musculature was delineated. In one case, a transcolostomy enema revealed a fistula not evident on MR images. Presacral masses included four teratomas and three lipomas associated with various spinal anomalies. On MR imaging, which gave better results than CT or sonography, a detailed evaluation of presacral masses and associated anomalies was possible. Sacral anomalies included a typical scimitar-shaped sacral defect in five patients, abnormal curvature in one, and malsegmentation in one. In all cases, MR imaging showed the abnormal sacrum, but plain radiography more clearly demonstrated its anomalous shape. CONCLUSION: Various anorectal anomalies, presacral masses, and other associated anomalies were demonstrated by MR imaging. When the Currarino triad is suspected, MR imaging should therefore follow plain radiographs.
Anal Canal ; Anus, Imperforate ; Barium ; Child ; Constriction, Pathologic ; Dilatation ; Enema ; Fistula ; Humans ; Lipoma ; Magnetic Resonance Imaging* ; Radiography ; Rectum ; Retrospective Studies ; Sacrum ; Teratoma ; Tomography, X-Ray Computed

OBJECTIVE: To determine the correlation between cerebral blood flow (CBF) on arterial spin labeling (ASL) MRI and the degree of postoperative revascularization assessed on digital subtraction angiography in children with moyamoya disease (MMD). MATERIALS AND METHODS: Twenty-one children (9 boys and 12 girls; mean age, 8.4 ± 3.6 years; age range, 3–16 years) with MMD who underwent both pseudocontinuous ASL MRI at 1.5T and catheter angiography before and after superficial temporal artery encephaloduroarteriosynangiosis were included in this retrospective study. The degree of revascularization in the middle cerebral artery (MCA) territory was evaluated on external carotid angiography and was graded on a 3-point scale. On ASL CBF maps, regions of interest were manually drawn over the MCA territory of the operated side at the level of the centrum semi-ovale and over the cerebellum. The normalized CBF (nCBF) was calculated by dividing the CBF of the MCA territory by the CBF of the cerebellum. Changes in nCBFs were calculated by subtracting the preoperative nCBF values from the postoperative nCBF values. The correlation between nCBF changes measured with ASL and the revascularization grade from direct angiography was evaluated. RESULTS: The nCBF value on the operated side increased after the operation (p = 0.001). The higher the degree of revascularization, the greater the nCBF change was: poor revascularization (grade 1), −0.043 ± 0.212; fair revascularization (grade 2), 0.345 ± 0.176; good revascularization (grade 3), 0.453 ± 0.182 (p = 0.005, Jockheere-Terpstra test). The interobserver agreement was excellent for the measured CBF values of the three readers (0.91–0.97). CONCLUSION: The nCBF values of the MCA territory obtained from ASL MRI increased after the revascularization procedure in children with MMD, and the degree of nCBF change showed a significant correlation with the degree of collateral formation evaluated via catheter angiography.
Angiography ; Angiography, Digital Subtraction ; Catheters ; Cerebellum ; Cerebral Revascularization ; Cerebrovascular Circulation ; Child ; Female ; Humans ; Magnetic Resonance Imaging ; Middle Cerebral Artery ; Moyamoya Disease ; Perfusion ; Retrospective Studies ; Temporal Arteries

Truncus arteriosus is characterized by a single arterial vessel arising from the base of the heart and giving origin to the systemic, pulmonary and coronary circulation. To evaluate the incidence, types, and associated anomalies, 18cases of truncus arteriosus diagnosed by angiocardiography, were reviewed and were compared with other reports. Ten of them were confirmed by operation. The overall incidence of truncus arteriosus was 0.127%. Accordin to Collett and Edwards classification. Type I was encountered in 11cases(61%), type II in 4cases(22%), and type III in 3cases(17%), All the patients had subtruncal ventricular septal defects. Eight patients showed truncal valve regurgitation and valve stenosis was noted in one case. A right aortic arch was present in 9 cases. Associated anomalies were atrial septal defect(8cases), patent ductus arteriosus(3cases), coarctation of the aorta(2cases), isolation of the left subclavian artery(2 cases), and right aortic arch with an aberrant left subclavian artery(1case). Truncus arteriosus is an uncommon congenital cardio vascular malformation. In the group of cases which we encountered, type I was the most common anomaly. Frequently associated anomalies were right aortic arch, incompetent truncal valve and atrial septal defect.
Angiocardiography ; Aorta, Thoracic ; Classification ; Constriction, Pathologic ; Coronary Circulation ; Heart ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Incidence* ; Truncus Arteriosus* ; Vascular Malformations