Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
Cartilage ; Chondrodysplasia Punctata* ; Chondrodysplasia Punctata, Rhizomelic ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fetus ; Humans ; Infant ; Pregnancy

Our objective in this study was to evaluate the safety and efficacy of transurethral cord blood stem cell injection for treatment of stress urinary incontinence in women. Between July 2005 and July 2006, 39 women underwent transurethral umbilical cord blood stem cell injection performed by one operator at a single hospital. All patients had stress urinary incontinence. The patients were evaluated 1, 3, and 12 months postoperatively. No postoperative complications were observed. 28 patients (77.8%) were more than 50% satisfied according to the Patient's Satisfaction results after 1 month, 29 patients (83%) were more than 50% satisfied according to the Patient's Satisfaction results after 3 months, and 26 (72.2%) continuously showed more than 50% improvement after 12 months. Intrinsic sphincter deficiency and mixed stress incontinency improved in the ten patients evaluated by urodynamic study. Our results suggest that transurethral umbilical cord blood stem cell injection is an effective treatment for women with all types of stress urinary incontinence.

To evaluate the effectiveness of the human umbilical cord blood (HUCB) transplantation for the treatment of intrinsic sphincter deficiency (ISD), we analyzed the short term effects of HUCB mononuclear cell transplantation in rats with induced-ISD. ISD was induced in rats by electro-cauterization of periurethral soft tissue with HUCB mononuclear cell injection after 1 week. The sphincter function measured by mean leak point pressure was significantly improved in the experimental group compared to the control group at 4 weeks. (91.75+/-18.99 mmHg vs. 65.02+/-22.09 mmHg, P=0.001). Histologically, the sphincter muscle was restored without damage while in the control group it appeared markedly disrupted with atrophic muscle layers and collagen deposit. We identified injected HUCB cells in the tissue sections by Di-I signal and Prussian blue staining. HUCB mononuclear cell injection significantly improved urethral sphincter function, suggesting its potential efficacy in the treatment of ISD.
Animals ; Cells, Cultured ; Cord Blood Stem Cell Transplantation/*methods ; Humans ; Leukocytes, Mononuclear/*transplantation ; Rats ; Rats, Sprague-Dawley ; Treatment Outcome ; Urinary Incontinence, Stress/diagnosis/*physiopathology/*surgery ; Urologic Surgical Procedures/*methods

Limb-body wall complex, also known as the short umbilical cord syndrome or the body stalk anomaly, is a poorly defined, sporadic group of congenital anomaly characterized by a collection of protean fetal malformation, deformation and disruption. Accurate diagnosis is often difficult because of its variable presentation pattern and the absence of exactly same case. Ultrasonographic detection of abdominoschisis, scoliosis, abnormalities of the lower extremities, a single umbilical artery and a short umbilical cord is important for the prenatal diagnosis. This complex should be distinguished from other body wall defects including omphalocele and gastroschisis since the prognosis for limb-body wall complex is uniformly poor. We experienced a case of limb-body wall complex in a fetus of intrauterine pregnancy at 15 weeks who was terminated because of ultrasonographic demonstration of a large abdominal defect with eventration of abdominal organs, short umbilical cord and kyphoscoliosis. Thus, we report a case with brief review of the literatures.
Diagnosis ; Fetus ; Gastroschisis ; Hernia, Umbilical ; Lower Extremity ; Pregnancy ; Prenatal Diagnosis ; Prognosis ; Scoliosis ; Single Umbilical Artery ; Ultrasonography, Prenatal* ; Umbilical Cord

OBJECTIVE: The purpose of this study was to make a guideline of uterine artery embolization for the treatment of uterine leiomyomas accompanying with adenomyosis in Korea. MATERIALS AND METHODS: We performed the retrospective study for 37 women who had uterine leiomyomas accompanying with adenomyosis. Bilateral uterine artery embolization was performed in 37 patients (age range 25-65) during 17 months with pain, hypermenorrhea, urinary frequency etc due to leiomyomas. Ultrasound imaging was performed before the procedure and at mean 6.9 months after the procedure. RESULTS: All procedures were technically successful. Mean clinical follow-up was 12.8 months. Minor complication occurred in 82% patients after the procedure. After imaging follow-up (mean, 6.9 months postprocedure), median uterine volume decreased 34.4%, and dominant myoma volume decreased 86%. There was no statistical difference in uterine volume reduction and dominant myoma size reduction whether occluding agents was polyvinyl alcohol, polyvinyl alcohol plus gelfoam, and gelfoam, and whether ultrasound measured Resistance Index value before the procedure was low or high. CONCLUSION: Primary candidates for uterine artery embolization include those with symptomatic uterine leiomyomas who no longer desire fertility but wish to avoid surgery or are poor surgical risks. To our study, uterine volume reduction and dominant myoma size reduction in patients who had adenomyosis were similar to previous other studies in patients who had not adenomyosis. Therefore adenomyosis should not be considered as a contraindication for uterine artery embolization. Because there is little data about subsequent reproductive potential after this procedure, it should not be routinely advocated for infertile women. Further investigation is warranted for occluding agents and Resistance Index.
Adenomyosis* ; Female ; Fertility ; Follow-Up Studies ; Gelatin Sponge, Absorbable ; Humans ; Korea ; Leiomyoma* ; Menorrhagia ; Myoma ; Polyvinyl Alcohol ; Retrospective Studies ; Ultrasonography ; Uterine Artery Embolization

Apert syndrome or acrocephalosyndactyly is a rare developmental deformity with a sporadic or autosomal dominant trait characterized by coronal craniosynostosis, midface hypoplasia, exorbitism, typical symmetrical syndactyly of both hands and feet with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor receptor type-2 (FGFT2) gene. In the absence of family history, prenatal diagnosis may be difficult based on ultrasonographic findings alone. The original description was presented by Apert in 1906 with nine cases. Since then more than 200 cases have been reported in the world. We report a case of Apert syndrome diagnosed prenatally by ultrasonogram in the third trimester and subsequently was terminated, with a brief review of prenatal sonographic findings in 11cases reported in literature.
Acrocephalosyndactylia* ; Congenital Abnormalities ; Craniosynostoses ; Female ; Foot ; Hand ; Humans ; Intellectual Disability ; Pregnancy ; Pregnancy Trimester, Third ; Prenatal Diagnosis ; Receptors, Fibroblast Growth Factor ; Syndactyly ; Ultrasonography

Colorectal cancer developed during pregnancy is extremely rare condition associated with a poor prognosis. Pregnant women usually present with more advanced stage at diagnosis than their non-pregnant counterparts. There are several possible reasons for this disparity as follows. The first one is delay in making the diagnosis due to similarity between the early symptoms of colon cancer and the gastrointestinal complains of pregnancy, the second is proliferation and decreased apoptosis of tumor cells due to the effects of various cytokines and hormonal environmental stimuli related to the state of pregnancy, and the third is an increased opportunity for tumor spread due to the immunosuppressed state of pregnancy and increased perfusion of all the organs. Thus, it is important not to underestimate the patient's symptoms because the early diagnosis is essential for better prognosis. We report a 27-year-old primigravida with advanced stage adenocarcinoma of the left colon diagnosed after cesarean delivery with a brief review of literature.
Adenocarcinoma ; Adult ; Apoptosis ; Colon* ; Colonic Neoplasms* ; Colorectal Neoplasms ; Cytokines ; Diagnosis ; Early Diagnosis ; Female ; Humans ; Perfusion ; Pregnancy* ; Pregnant Women ; Prognosis

OBJECTIVE: The purpose of this study was to establish guidelines for using uterine artery embolization for the treatment of uterine leiomyomas accompanied by adenomyosis in Korea. This study was performed to investigate 1) the effects of uterine embolization on leiomyoma accompanied by adenomyosis, 2) the outcome of uterine embolization according to the embolization materials used, 3) the relationship between the Resistance Index (RI) and the change in uterine volume. MATERIALS AND METHODS: We performed a retrospective study on 37 women who had uterine leiomyomas accompanied by adenomyosis. Bilateral uterine artery embolization was performed over a period of 17 months in 37 patients (age range 25 - 65) experiencing pain, hypermenorrhea, urinary frequency, etc. due to leiomyomas. Ultrasound imaging was performed before the procedure and at mean 6.9 months after the procedure. RESULTS: All procedures were technically successful. Mean clinical follow-up time was 12.8 months. Minor complications occurred in 82% patients following the procedure. After follow-up imaging, the median uterine volume decreased by 34.4% and the dominant myoma volume decreased by 86%. There was no statistical difference in the uterine volume reduction and the dominant myoma size reduction, whether the occluding agent was polyvinyl alcohol, polyvinyl alcohol plus gelfoam, or gelfoam, and whether the ultrasound measured Resistance Index value before the procedure was low or high. CONCLUSION: Primary candidates for uterine artery embolization include those with symptomatic uterine leiomyomas, who no longer desire fertility, but who wish to avoid surgery or are poor surgical risks. According to the results of our study, adenomyosis should not be considered as a contraindication for uterine artery embolization. However, because little data is available about the subsequent reproductive potential following this procedure, it should not be routinely advocated for infertile women. Further investigation is warranted regarding the choice of occluding agent and the role of the Resistance Index.
Adult ; Arteries ; *Embolization, Therapeutic ; Female ; Human ; Leiomyoma/*therapy ; Middle Age ; Uterine Neoplasms/*therapy ; Uterus/*blood supply

BACKGROUND/AIMS: To investigate the epidemiologic changing patterns of gallstone diseases in Korea during past 25 years. METHODS: A total of 5,671 gallstone patients who underwent surgery in our center during 1981-2005 were analyzed. The patients were divided into 5 periods: period I (1981-1985, n=831), period II (1986-1990, n=888), period III (1991-1995, n=1,040), period IV (1996-2000, n=1,261) and period V (2001-2005, n=1,651). Korean literatures published from 1961 to 2005 were reviewed to elucidate the nationwide trends of gallstone diseases. RESULTS: Number of gallstone disease cases were gradually increasing. Female predominance was not noted (male/female ratio, 1.07-1.37). Patients with common bile duct (CBD) stone were older than those with gallbladder (GB) stone or intrahepatic duct (IHD) stone. During past 25 years, relative proportion of GB stone cases increased from 53.0% to 89.7%, while that of CBD stone cases decreased from 68.0% to 15.1%. Relative proportion of IHD stone patients remained stationary. In rural areas, tendency of increasing GB stone and decreasing CBD stone disappeared since period III. However, in urban areas, these tendencies remained till period V. Relative frequency of IHD stone group remained unchanged in two areas. The body mass indexes of the GB stone group, CBD stone group, and IHD stone group were higher than that of the average population. CONCLUSIONS: In gallstone disease, increasing tendency of GB stone and decreasing tendency of CBD stone in rural area have disappeared. However, relative frequency of IHD stone is still high in Korea.
Body Mass Index ; Demography ; Female ; Gallstones/diagnosis/*epidemiology/surgery ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Prevalence ; Retrospective Studies

OBJECTIVE: To determine whether local estrogen production takes place in adenomyosis and in normal endometrium. METHODS: The study included 23 cases of adenomyosis and 17 cases of normal uterine endometrium obtained through hysterectomy or curettage at Kangnam Cha Hospital. The frozen tissue specimens were examined by immunohistochemistry using P450 arom. RESULTS: P450 arom was immunolocalized exclusively in the cytoplasm of glandular cells of adenomyotic tissue. However, no apparent staining was observed in stromal cells. Aromatase was expressed in the ectopic glands (82.6%), but also in the eutopic endometrium of patients with adenomyosis (23.5%). In the case of normal endometrium, P450arom was not detected. CONCLUSION: These results suggest that the aromatase activity is correlated to the pathophysiology of adenomyosis.
Adenomyosis* ; Aromatase* ; Curettage ; Cytochrome P-450 Enzyme System* ; Cytochromes* ; Cytoplasm ; Endometrium ; Estrogens ; Female ; Humans ; Hysterectomy ; Immunohistochemistry ; Stromal Cells