Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 1q usually demonstrates fetal growth restriction and anomalies of head, face, urogenital tract, heart, finger and toes with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 1q in Korea. We present the case of recurrent partial trisomy 1q in maternal balanced translocation which was prenatally diagnosed by amniocentesis with fluorescence in situ hybridization(FISH) based on abnormal ultrasonographic findings and poor obstetric history.
Amniocentesis ; Fetal Development ; Fingers ; Fluorescence ; Head ; Heart ; Korea ; Prenatal Diagnosis ; Toes ; Trisomy*

Plasmapheresis has been used for some conditions during pregnancy and puerperium, such as hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. We present one case of the HELLP syndrome which was treated with plasmapheresis and also review the indications, complications and guidelines for repetitive plasma exchange.
Blood Platelets ; Female ; HELLP Syndrome* ; Hemolysis ; Liver ; Plasma Exchange ; Plasmapheresis* ; Postpartum Period* ; Pregnancy

Urinary protein per se causes renal tubular injury and stimulates immunologic reaction. The extent of proximal tubular injury can be estimated by measuring the amount of 24 hours urinary beta2-microglobulin (U beta2-MG). The aim of this study was whether U beta2-MG level could predict the response to the initial steroid treatment for the patients with minimal change nephrotic syndrome (MCNS). We analyzed 58 adult patients (33 M, 25 F), aged 33+/-15 years (range 16-76), with biopsy-proven MCNS treated with 40 to 60mg of oral prednisolone daily up to 16 weeks. The responsiveness (44 cases) inculded complete and partial remission or steroid resistance (14 cases). No difference was found between the steroid responsive and resistant group with regard to age, BUN, serum creatinine, albumin, cholesterol, and urinary protein. The levels of U beta2- MG (microgram/g creatinine) were 250808+/-478917 and 1648+/-2386 in resistan ia Kwang-Yul Chang, et al.:Prediction of Steroid Responsiveness in Adult Minimal Change Nephrotic. Syndrome Using Urinary beta2-Microglobulint group and responsive group, respectively (P<0.05). The cut off value was 400microgram/ g creatinine with 78% of sensitivity and 48% of specificity. The likelihood ratio for the resistance was 2.5 to 2.8 with the U beta2-MG levels over 400 ug/g creatinine and was 0.2 to 0.3 below that value. Multivariate analysis confirmed that higher U beta2- MG level was associated with a lower likelihood of steroid responsiveness, independent of age, sex, creatinine, serum protein, and urinary protein. This study showed that the pretreatment U beta2- MG level may be used to identify subgroup of patients with MCNS who are more likely to be responsive to initial steroid treatment.
Adult* ; Cholesterol ; Creatinine ; Humans ; Multivariate Analysis ; Nephrosis, Lipoid* ; Prednisolone ; Sensitivity and Specificity

The aim of this study was to assess the effectiveness of active intervention with antenatal maternal corticosteroid and antibiotics therapy in infants delivered between 24 and 28 weeks of gestation after premature rupture of membrane. This retrospective study included pregnant women complicated by preterm delivery at the Dong-A University Hospital from 1998 to 2002. Patients were divided into labor induction group 1 (n=20), observation group 2 (n=19), and medication group 3 (n=20). We evaluated the effects of prolongation of pregnancy and intervention with maternal corticosteroids and antibiotics therapy on perinatal and neonatal outcomes. Each group did not have a significant difference (p<0.05) in neonatal outcomes, such as respiratory distress syndrome, intraventricular hemorrhage, necrotizing enterocolitis, retinopathy of prematurity, pneumonia, bronchopulmonary dysplasia, and sepsis. The mean latency period was 4.7 days and 7.6 days in groups 2 and 3, respectively. Therefore, this study was unable to demonstrate any beneficial effects of corticosteroids in improving neonatal outcomes and prolongation of the latency period with antibiotics.
Adrenal Cortex Hormones/*pharmacology ; Adult ; Anti-Bacterial Agents/*pharmacology ; Apgar Score ; Female ; Fetal Membranes, Premature Rupture/*drug therapy ; Gestational Age ; Humans ; Infant, Newborn ; Maternal Age ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second ; Premature Birth/prevention & control ; Respiratory Distress Syndrome, Newborn/prevention & control ; Retrospective Studies ; Time Factors

The immature teratoma is extremely rare tumor consisting of mature tissues and immature embryonal tissues. The immature teratoma in children occurs more frequently at the sacrococcygeal bone, testis and ovary. Only 9.5 percent of immature teratomas occur in retroperitoneum. Often the presenting manifestation is asymptomatic with increasing abdominal distention or mass discovered during physical examination. We report a case of congenital retroperitoneal immature teratoma in 3-week-old boy who was treated by surgical excision.
Child ; Female ; Humans ; Male ; Ovary ; Physical Examination ; Teratoma* ; Testis

We analyzed records at Chonnam university hospital from Sep. 1. 1993 to Aug. 31. 1996 to assess clinical significance of the foreign body in the gastrointestinal tract. There were 133 episodes consisting of 79 pediatric and 54 adult patients as possible to review. In the pediatric patients, the coin was the most common cause of foreign body ingestion, while adult patients were usually caused by bones and meat. We removed foreign bodies in the oral cavity and oropharynx in 12 cases using direct laryngophanmgoscpy and forcep. Endoscopy was performed successfully in 47 of 51 patients in which was attempted; there were two complications composed of an aspiration pneumonia and a mediastinitis due to esophageal perforation. There were spontaneous passage of foreign bodies in 48 cases. We observed complications in 6 cases in which 4 cases needed operations due to complications. Foreign bodies which pass into the stomach can be observed for development of complications, as 94% of foreign bodies which reach the stomach spontaneously pass. Only 4 patients required interventions, which was done without mortality.
Adult ; Eating* ; Endoscopy ; Esophageal Perforation ; Foreign Bodies* ; Gastrointestinal Tract ; Humans ; Jeollanam-do ; Meat ; Mediastinitis ; Mortality ; Mouth ; Numismatics ; Oropharynx ; Pneumonia, Aspiration ; Stomach ; Surgical Instruments

Roberts syndrome is an autosomal recessive disorder accompanied by limb defects, craniofacial abnormalities, pre-and postnatal growth retardation. Patients with Roberts syndrome have characteristic premature separation of heterochromatin of many chromosomes and abnormalties in celldivision cycle. We have experienced a case of Roberts syndrome in an immature neonate The patients showed characteristic clinical features of multiple, severe facial mid-line clefts, and tetraphoco-amelia. The brief review of the literlature was made.
Craniofacial Abnormalities ; Ectromelia ; Extremities ; Heterochromatin ; Humans ; Infant, Newborn

PURPOSE: Estimation of body fluid volume in hyponatremia is useful for diagnosis and therapeutic decision-making. Physical examination has been generally used to estimate body fluid volume, but it depends on the physician's abilities. Bioimpedance spectroscopy has been suggested to be a reliable method for the estimation of body fluid volume. Therefore, this study investigated whether bioimpedance spectroscopy could replace physical examination in hyponatremia. MATERIALS AND METHODS: The study included 30 patients with hyponatremia. At the time of the initial visit, body fluid volume was estimated simultaneously by both physical examination and bioimpedance spectroscopy. Estimation of body fluid status by clinical diagnosis was performed as well, which determined body fluid status corresponds with the most likely cause of hyponatremia (clinical body fluid estimation). RESULTS: The results of body fluid volume estimated by physical examination, bioimpedance spectroscopy, and clinical body fluid estimation showed that 9, 10, and 9 patients, respectively, were hypervolemic; 13, 15 and 16 patients, respectively, were euvolemic; and 8, 5, and 5 patients, respectively, were hypovolemic. Cohen's kappa analysis showed a significant agreement between physical examination and bioimpedance spectroscopy (kappa coefficient, 0.632, p<0.001). In addition, bioimpedance spectroscopy showed a higher level of agreement with clinical body fluid estimation than physical examination (kappa coefficient, 0.602 vs. 0.524). CONCLUSION: This study suggests that bioimpedance spectroscopy could replace physical examination for estimating body fluid status in hyponatremia. In addition, bioimpedance spectroscopy might correspond better with clinical diagnosis than physical examination in the estimation of body fluid status in hyponatremia.
Body Fluids* ; Diagnosis ; Humans ; Hyponatremia* ; Hypovolemia ; Methods ; Physical Examination ; Spectrum Analysis*