Ectopia cordis is defined as a congenital malposition of the heart partially or completely outside the thorax and often associated with sternal and congenital heart defects:surgical repair is generally unsuccessful because of the magnitude of the deformity and the associat-ed intracardiac anormalies. Four types of ectopia cordis are described : cervical, thoracic, abdominal and thoracoa- bdominal. Cervical and thoracic type are often fatal within days, because the heart is expo- sed and malformed. Abdominal type carries a better prognosis because cardiac abnormalities are less often found. The prognosis of thoraco-abdominal type mainly depends on the pre- sence of intracardiac abnormalities. We have experienced a case of thoracic ectopia cordis at 25 weeks' gestation by ultra- sonography, so present the case and the review with literature briefly.
Congenital Abnormalities ; Ectopia Cordis* ; Heart ; Pregnancy ; Prenatal Diagnosis* ; Prognosis ; Thorax

Purpose: This study evaluated the role of donor kidney ultrasonography (US) for predicting functional kidney volume and identifying ideal kidney grafts in deceased donor kidney transplantation. Methods: In total, 272 patients who underwent deceased donor kidney transplantation from 2000 to 2020 at Samsung Medical Center were enrolled. Donor kidney information (i.e., right or left) was provided to the radiologist who performed US image re-analysis. To binarize each kidney’s ultrasound parameters, an optimal cutoff value for estimated glomerular filtration rate (eGFR) of less than 30 mL/min/1.73 m2 within 1 year after kidney transplantation was selected using the receiver operating characteristic curve with a specificity >60%. Cox regression analysis was performed for an eGFR less than 30 mL/min/1.73 m2 within 1 year after kidney transplantation and graft failure within 2 years after kidney transplantation. Results: The product of renal length and cortical thickness was a statistically significant predictor of graft function. The odds ratios of an eGFR less than 30 mL/min/1.73 m2 within a year after kidney transplantation and the hazard ratio of graft failure within 2 years after kidney transplantation were 5.91 (P=0.003) and 5.76 (P=0.022), respectively. Conclusion Preoperative US of the donor kidney can be used to evaluate donor kidney function and can predict short-term graft survival. An imaging modality such as US should be included in the donor selection criteria as an additional recommendation. However, the purpose of this study was not to narrow the expanded criteria but to avoid catastrophic consequences by identifying ideal donor kidneys using preoperative US.

BACKGROUND: The metabolic syndrome (MS) is a cluster of risk factors of cardiovascular disease. The association between components of the MS and bone mineral density has been researched, but no prior studies have directly evaluated the association with the metabolic syndrome and bone mineral density in Korea. METHODS: We evaluated postmenopausal women who had visited a university hospital from November 2006 to October 2007. Data on their lifestyle, current medical diseases and medications were collected from medical records. Height, body weight, waist circumference and serum lipid profiles were measured. RESULTS: The prevalence of metabolic syndrome was 21.8% in this study. In adjusted analysis including age and other factors, only waist circumference had a close correlation with bone mineral density of femur and lumbar vertebral body (P < 0.05). The bone mineral density of femur and lumbar vertebral body had no correlation with the presence of metabolic syndrome. When stratified by body mass index, corrected bone mineral density revealed no significant correlation with the presence of metabolic syndrome. CONCLUSION: The bone mineral density of postmenopausal women with metabolic syndrome has highly influenced by obesity, especially by abdominal obesity.
Body Height ; Body Mass Index ; Bone Density ; Cardiovascular Diseases ; Female ; Femur ; Humans ; Life Style ; Medical Records ; Obesity ; Obesity, Abdominal ; Osteoporosis ; Prevalence ; Risk Factors ; Waist Circumference

BACKGROUND: The metabolic syndrome (MS) is a cluster of risk factors of cardiovascular disease. The association between components of the MS and bone mineral density has been researched, but no prior studies have directly evaluated the association with the metabolic syndrome and bone mineral density in Korea. METHODS: We evaluated postmenopausal women who had visited a university hospital from November 2006 to October 2007. Data on their lifestyle, current medical diseases and medications were collected from medical records. Height, body weight, waist circumference and serum lipid profiles were measured. RESULTS: The prevalence of metabolic syndrome was 21.8% in this study. In adjusted analysis including age and other factors, only waist circumference had a close correlation with bone mineral density of femur and lumbar vertebral body (P < 0.05). The bone mineral density of femur and lumbar vertebral body had no correlation with the presence of metabolic syndrome. When stratified by body mass index, corrected bone mineral density revealed no significant correlation with the presence of metabolic syndrome. CONCLUSION: The bone mineral density of postmenopausal women with metabolic syndrome has highly influenced by obesity, especially by abdominal obesity.
Body Height ; Body Mass Index ; Bone Density ; Cardiovascular Diseases ; Female ; Femur ; Humans ; Life Style ; Medical Records ; Obesity ; Obesity, Abdominal ; Osteoporosis ; Prevalence ; Risk Factors ; Waist Circumference

We have designed the multi channel detector for the quality assurance of clinical photon beams. The detector was composed of solid phantom inserted by six plane-parallel ionization chambers at different depth. The chamber as a mini plane parallel chamber was made of carbon coated microfilms. In this study the electrical characteristics of the six chambers in the solid phantom were evaluated using 6 MV photon beam. The leakage currents were less than 0.5 pA, reproducibility was less than 0.5%, linearity was less than 0.5%, and dose rate effect was less than 0.7%. In addition the effect of dose variation from other chambers was estimated to maximum 0.8% approximately. The developed detector can be used for quality determination in output dosimetry or measurement of percentage depth dose approximately for clinical photon beam.
Carbon* ; Electrodes*

The Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder characterized by multiple abnormalities that involve the brain, face, eyes, and extremities. COFS syndrome is regarded as a degenerative disorder of the brain and spinal cord caused by a mutation of the DNA repair genes. We report on an 8-month-old girl with COFS syndrome who exhibited growth and developmental delay, hypotonia, microcephaly, nystagmus, cleft palate, widely separated nipples, inguinal hernia, camptodactyly, and rocker-bottom feet with vertical talus.
Abnormalities, Multiple ; Brain ; Cleft Palate ; Cockayne Syndrome ; DNA Repair ; Extremities ; Eye ; Foot ; Growth and Development ; Hernia, Inguinal ; Humans ; Infant ; Microcephaly ; Muscle Hypotonia ; Nipples ; Spinal Cord ; Talus

A 63-year-old female complained of transient dysarthria. MRA was conducted to evaluate this symptom, revealing distal internal carotid artery occlusion with collateral vessel development, suggesting Moyamoya disease, which had not been detected in MRA performed 5 years previously. Vascular risk factors and laboratory findings suggested no cardiac or autoimmune diseases. The diameter of stenosis of the middle cerebral artery on high-resolution MRI was 2.11 mm, and genetic evaluation revealed mutation of the gene encoding ring finger protein 213 (RNF213). High-resolution MRI and gene studies are useful for distinguishing between Moyamoya disease and atherosclerosis.
Adult* ; Atherosclerosis ; Autoimmune Diseases ; Carotid Artery, Internal ; Constriction, Pathologic ; Dysarthria ; Female ; Fingers* ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Middle Cerebral Artery ; Moyamoya Disease* ; Risk Factors

Urinary tract infection is common in the pediatric population. The most common causative agents are bacteria, among which Escherichia coli is the most frequent uropathogen. Although fungal urinary tract infection is rare in the healthy pediatric population, it is relatively common among hospitalized patients. Fungus may be isolated from the urine of immunocompromised patients or that of patients with indwelling catheters. The most common cause of funguria is Candida albicans. Although more than 50% of Candida isolates belong to non-albicans Candida , the prevalence of non-albicans candiduria is increasing. Herein, we report a case of community-acquired candiduria in a 4-month-old immunocompetent male infant who had bilateral vesicoureteral reflux and was administered antibiotic prophylaxis. He was diagnosed with urinary tract infection caused by Candida lusitaniae and was managed with fluconazole.
Antibiotic Prophylaxis ; Bacteria ; Candida ; Candida albicans ; Catheters, Indwelling ; Escherichia coli ; Fluconazole ; Fungi ; Humans ; Immunocompromised Host ; Infant ; Male ; Prevalence ; Urinary Tract Infections ; Urinary Tract ; Vesico-Ureteral Reflux

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.