OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.
Alleles* ; Blotting, Southern ; DNA ; Female ; Fragile X Syndrome ; Humans ; Intellectual Disability ; Korea ; Polymerase Chain Reaction ; Schools, Medical

Traditionally postpartum hemorrhage is a bleeding more than 500 ml that occurs immediately after the placenta is delivered. It remains one of the most common causes of maternal mortality. Morbid adhesion of the placenta is emerging as a major cause of massive postpartum hemorrhage unresponsive to medical therapy. We experienced three cases of major postpartum hemorrhage over 5,000 ml, developed from anterior placenta previa totalis with adhesion of placenta. The hemorrhage had been controlled successfully by compressing abdominal aorta intermittently with the operator's hand during Cesarean hysterectomy. In immediate life- threatening postpartum hemorrhage this simple and safe technique can be used in slowing the bleeding while stabilizing the patient and preparing for definitive treatment.
Aorta, Abdominal ; Hand ; Hemorrhage ; Humans ; Hysterectomy ; Maternal Mortality ; Placenta ; Placenta Previa ; Postpartum Hemorrhage* ; Postpartum Period*

OBJECTIVE: Unruptured intracranial aneurysms are now being detected with increasing frequency in clinical practice. Results of the largest studies, including those of the International Study of Unruptured Intracranial Aneurysms, indicate that surgical and endovascular treatments are rarely justified in small aneurysms. However, we have encountered several cases of rupture of small and very small aneurysms in our clinical practice. This retrospective study analyzed the incidence and clinical characteristics of very small ruptured aneurysms. MATERIALS AND METHODS: A total of 200 patients with aneurysmal subarachnoid hemorrhage between January 2012 and December 2014 were reviewed. Various factors were analyzed, including the aneurysm location and size as well as the associated risk factors. RESULTS: The mean age of patients was 56.31 +/- 13.78 (range, 25-89) years, and the male to female ratio was 1:2.1. There were 94 (47%) small-sized (< 5 mm), 91 (45.5%) medium-sized (5-9.9 mm), and 15 large-sized (> 10 mm) aneurysms. Of these, 30 (15%) aneurysms were very small-sized (< 3 mm). The most frequent site of aneurysms was the anterior communicating artery (ACoA). However, the proportion of aneurysms at the ACoA was significantly high in very small aneurysms (53.3%, p = 0.013). Hypertension was a significant risk factor for rupture of very small aneurysms (p < 0.001). CONCLUSION: About half of our cases of ruptured aneurysms involved the rupture of small and very small aneurysms. The most common site of rupture of very small aneurysm was the ACoA. Rupture of small and very small aneurysms is unpredictable, and treatment may be considered in selected high-risk patients according to factors such as young age, ACoA location, and hypertension.
Aneurysm ; Aneurysm, Ruptured ; Arteries ; Female ; Humans ; Hypertension ; Incidence* ; Intracranial Aneurysm* ; Male ; Retrospective Studies ; Risk Factors ; Rupture* ; Subarachnoid Hemorrhage

OBJECTIVE: To access the pregnancy tendency and delivery in women aged 40 years and older. METHODS: From January 1999 to June 2001, 7882 deliveries were in Gacheon Medical School. Among them we compared 95 cases of pregnant women aged 40 years and older with 94 cases of those aged under 40 years as a control group. RESULTS: The parity was higher in women aged older than 40 years compared to control group. Number of prenatal special studies was higher in women aged older than 40 years (n=82) compared to control group (n=14). In modes of delivery and indications for c/sec, there were no difference in two groups. There were no difference in prenatal complications between two groups. But, number of cases related to placenta previa, myoma and anemia were increased in women aged older than 40 years. In postpartum complications, uterine atony and hysterectomy, postpartum bleeding and placenta accreta were higher in women aged older than 40 years compared to control group. CONCLUSION: For pregnant women aged 40 years and older, a careful approach and appropriate management will be necessary for good pregnant outcome.
Anemia ; Female ; Hemorrhage ; Humans ; Hysterectomy ; Myoma ; Parity ; Placenta Accreta ; Placenta Previa ; Postpartum Period ; Pregnancy* ; Pregnant Women ; Schools, Medical ; Uterine Inertia

Fibrous hamartoma of infancy is an uncommon, benign fibroproliferative tumor arising from sub. cutaneous tissue during the First 2 years of life. We report a case of fibrous hamartoma of infancy in the scrotum. The clinical characteristics and management of this neoplasm are discussed with references.
Hamartoma* ; Scrotum*

The Holt-Oram syndrome or cardiomelic syndrome is characterized by the association of upper limb and heart malformations. Most frequently, abnormalities of the thumb and secundum atrial septal defects are associated with the disease. The mode of inheritance is autosomal dominant. The etiology of this disease is unknown but is most likely of multifactorial origin. Here we report a case Holt-Oram syndrome with affected mother which was diagnosed at 18th gestational weeks by prenatal ultrasonograpy. Fetal ultrasonography revealed abnormalities of upper limbs, and heart. The upper limbs were shorter than normal, syndactyly of both hands were seen and both wrists were markedly angulated. Ventricular septal defect was suspicious. After genetic counselling her pregnancy was terminated at 22nd gestational week.
Hand ; Heart ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Mothers* ; Pregnancy ; Syndactyly ; Thumb ; Ultrasonography* ; Ultrasonography, Prenatal ; Upper Extremity ; Wills ; Wrist

No abstract available.
Cryopreservation* ; Embryonic Stem Cells* ; Humans* ; Vitrification

Mirizzi's syndrome (MS) caused by the retention of a stone in the cystic duct stump after cholecystectomy is rare. Most cases of MS are treated by surgical intervention. However, developments of endoscopic accessories and techniques have resulted in the recent introduction of endoscopic treatments for MS. Furthermore, in view of the postoperative morbidity caused by post-operative scarring, the endoscopic approach should be preferred to the surgical approach. In the described case, the authors were able to remove a remnant cystic duct stone endoscopically because the cystic duct stump was wide and non-tortuous. This case shows endoscopic retrograde cholangiopancreatography with mechanical lithotripsy can be utilized in suitable cases of type I MS development after cholecystectomy.
Cholangiopancreatography, Endoscopic Retrograde ; Cholecystectomy ; Cicatrix ; Cystic Duct ; Lithotripsy ; Mirizzi Syndrome*

OBJECTIVE: To analyze cytogenetic results of prenatal genetic amniocentesis. METHODS: From January 1997 to December 2000, We analyzed 1,390 cases of midtrimester amniocentesis which were done at Gil medical center of Gachon medical school according to its indications and maternal age. RESULTS: Chromosomal aberrations were found in 88 cases (6.3%). Of all our chromosomal aberrations, 29 cases (2.1%) of normal variants and 59 cases (4.2%) of abnormal karyotypes were found. 37 cases of autosomal numerical abnormal karyotypes and 7 cases of sex chromosomal abnormal karyotypes were diagnosed. In abnormal karyotype group, the incidence was high after 40 years of maternal age and in abnormal ultrasound findings, but no such correlations were found in normal variant group. CONCLUSION: In analysis of midtrimester amniocentesis, it would be better to analyze separately abnormal karyotype group and normal variant group.
Abnormal Karyotype ; Amniocentesis ; Amniotic Fluid* ; Chromosome Aberrations* ; Cytogenetics* ; Female ; Humans ; Incidence ; Maternal Age ; Pregnancy ; Pregnancy Trimester, Second* ; Schools, Medical ; Ultrasonography

OBJECTIVE: The aim of this study was to evaluate the peripartum efficiency of amnioinfusion in oligohydramnios without preterm premature rupture of membrane. METHODS: 73 singleton pregnant women with oligohydramnios were enrolled in this study. Women with preterm premature rupture of membrane were excluded. 21 women were treated with transabdominal amnioinfusion 31 times and 52 women were closely observed without amnioinfusion. Mean amniotic fluid index, mean gestational age, mean maternal age and the parity at the time of diagnosis was not statistically different in both groups. RESULTS: Mean amounts of infused artificial amniotic fluid was 536ml (200-700), the mean time consumed was 61(+/-39.2)min. After infusion, mean amniotic fluid index was increased significantly from 4.2(+/-1.6) to 10.0(+/-2.9). But we found no statistically significant differences in pregnancy outcomes. The outcomes are as follows 1)Mean gestational age at birth was 36.3(+/-3.5) weeks in amnioinfusion group and 37.2(+/-2.9) weeks in control group. 2) Mean birth weight was 2.54(+/-0.9)kg versus 2.51(+/-0.8)kg. 3) The proportions of poor Apgar score at 1 minute and 5 minute were not significantly different. 4) Cesarean section rate was 0.79 versus 0.65. 5.There were two still births in both groups. CONCLUSION: Transabdominal amnioinfusion in oligohydramnios has little effects in improving longterm pregnancy outcomes.
Amniotic Fluid ; Apgar Score ; Birth Weight ; Cesarean Section ; Diagnosis ; Female ; Gestational Age ; Humans ; Maternal Age ; Membranes* ; Oligohydramnios* ; Parity ; Parturition ; Peripartum Period* ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Prognosis* ; Rupture*