OBJECTIVES: The most common chromosomal abnormality contributing to recurrent abortion is the balanced chromosomal translocation. However the exact incidence of fetal losses are still unknown. The objectives of this study were to evaluate the incidence of fetal chromosomal abnormalities and outcome of pregnancy in recurrent miscarriage couples with balanced translocation. DESIGN: A retrospective analysis of recurrent spontaneous abortion patients with balanced chromosomal translocation. MATERIALS AND METHODS: Cytogenetic analysis was performed in 56 couples with history of recurrent abortions from 1995 to 1999. The use of high resolution banding technique and fluorescent in situ hybridization (FISH) in the chromosomal analysis has made the precise evaluation of chromosome aberrations. RESULTS: Among 56 couples, 42 patients had reciprocal translocation and 14 had Robertsonian translocation. Chromosomal aberrations were more frequent in women (36 cases) than in men (20 cases). Prenatal cytogenetic analyses were carried out in 14 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 5 cases (35.7%) was normal, 8 (57.1%) were balanced translocation, and 1 (7.1%) was unbalanced translocations. And cytogenetic analyses were done on 15 subsequent chorionic villi samples of abortuses for carrier couples with balanced translocations. Fourteen of fifteen abortuses (93.3%) were abnormal karyotype. CONCLUSIONS: Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with chromosomal imbalance (partial trisomy or monosomy). Therefore we recommend preimplantation genetic diagnosis (PGD) for recurrent abortions with balanced translocation and preventing the birth of offspring with chromosomal abnormalities.
Abnormal Karyotype ; Abortion, Habitual* ; Abortion, Spontaneous ; Chorionic Villi ; Chromosome Aberrations* ; Cytogenetic Analysis ; Family Characteristics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Incidence* ; Karyotype ; Male ; Parturition ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Translocation, Genetic ; Trisomy

No abstract available.
Angiokeratoma* ; Fabry Disease*

OBJECTIVE: The aim of study was to evaluate the efficacy of medical and/or laparoscopic surgical treatment for improvement of reproductive outcome of in vitro fertilization and embryo transfer (IVF-ET) in the patients with endometriosis. METHODS: 296 IVF-ET cycles except 18 cycles of cancelled embryo-transfer (unfertilization; 16 cycles, high risk of ovarian hyperstimulation syndrome; 2 cycles) in 191 infertile women with endometriosis from January 1, 1995 to December 31, 1998 were included in this study. All women's ages were < or = 35 and the factor for infetility was endometriosis only and day 3 follicle stumulating hormone (FSH) level of all the cycles was < or = 10 mIU/ml in this study. All the baseline study about infertility was done before initiating treatment of infertility. The stage of endometriosis was recorded during diagnostic laparoscopy by WHO critera. Medical treatment (GnRH agonist or danazole) or laparoscopic surgery was done independently or combinedly by the physician's decision according to the disease entity and symptoms. Short or long protocols were used for controlled ovarian hyperstimulation and 3 day embryos were transferred (maximally 4 embryos) by standard procedures in our institute. We classified the cases as 4 groups : group 1 (without pre-treatment, 80 cycles), goup 2 (laparoscopic surgery only, 37 cycles), group 3 (medication only, 140 cycles), group IV (combined pre-treatment, 39 cycles). RESULTS: The mean age (years old, mean +/- SEM) was 31.5 +/- 0.3 (group 1), 31.6 +/- 0.5 (group 2), 31.5 +/- 0.2 (group 3), 31.7 +/- 0.4 (group 4) respectively. The duration of infertility (months) was 57.7 +/- 3.3, 64.5 +/- 4.8, 59.1 +/- 1.9, 52.0 +/- 3.7 respectively among groups. The viable pregnancy rate (over 28 gestational weeks, VPR) was 12.5 % (10/80) in goup 1, 13.5 % (5/37) in goup 2, 14.3 % (20/140) in group 3, 30.8 % (12/39) in group 4 and there was statistically significant difference between group 1 and group 4 (P=0.03, Chi square test). The total used gonadotropins (ampules) for controlled ovarian hyperstimulation were 28.2 +/- 0.6.
Embryo Transfer ; Embryonic Structures ; Endometriosis* ; Female ; Fertilization in Vitro ; Gonadotropins ; Humans ; Infertility ; Laparoscopy* ; Ovarian Hyperstimulation Syndrome ; Pregnancy Rate* ; Pregnancy*

We report a case of alopecia neoplastica in a 54-year-old woman, who presented with a 2 month history of a solitary 2X2 cm sized, erythematous hairless plaque on the vertex. Histological findings showed an extensive infiltration of tumor cells in the dermis, resulting in loss of the pilosebaceous structure. Tumor cells infiltrated in sheets or cords of cells, sometimes demonstrating glandular structures, and tumor cells formed small groups or single rows between thickened collagen bundles; the characteristic features of alopecia neoplastica.
Alopecia* ; Breast Neoplasms* ; Breast* ; Collagen ; Dermis ; Female ; Humans ; Middle Aged

Cutaneous leiomyosarcoma is a rare soft-tissue tumor of smooth muscle derivation that accounts for 2%-3% of all soft tissue sarcomas. Cutaneous leiomyosarcomas can be subdivided into dermal and subcutaneous leiomyosarcomas. Because of the different prognosis, it is important to distinguish between dermal and subcutaneous forms. Immunohistochemical stains, such as vimentin, smooth muscle actin (SMA), desmin, CD68, CD34, and S-100, may aid in the recognition of smooth muscle derivation and in the differentiation from other malignant spindle cell tumors. We report a case of cutaneous leiomyosarcoma on the extensor surface of the left thigh in a 61-year-old man.
Actins ; Coloring Agents ; Desmin ; Humans ; Leiomyosarcoma* ; Middle Aged ; Muscle, Smooth ; Prognosis ; Sarcoma ; Thigh ; Vimentin

BACKGROUND: Desmocollins (Dsc) are calcium-dependent transmembrane glycoproteins of desmosomes that are important in the junction complex of epidermis and maintain structural integrity of the skin from external stressors. Among three Dscs (Dsc 1, 2, 3), Dsc 1 and 3 are distributed on skin. OBJECTIVE: The purpose of this study was to observe the Dsc 1 distribution pattern on the skin and oral mucosa during fetal development. METHODS: Skin was obtained from the sole and scalp of 33 fetuses, ranging from 10 to 37 weeks of gestational age. Immunohistochemical staining was performed on the paraffin-embedded tissue using a Dsc 1 monoclonal antibody. RESULTS: Dsc 1 was expressed in the suprabasal layer but not in the basal layer of the epidermis of the sole at the 10th week of gestation. Thereafter, Dsc 1 expression further increased in the suprabasal layer with initiation of stratification and increased gradually in the granular layers of the sole and scalp epidermis. Dsc 1 was strongly expressed in the superficial layer of the infundibulum and inner root sheath of the hair follicle but was not expressed in the sebaceous cells or other hair components. The eccrine duct epithelium was focally and weakly positive for Dsc 1 expression. Furthermore, Dsc 1 was not expressed in oral mucosa, although the oro-cutaneous portion was strongly expressed in the superficial layer. CONCLUSION: Dsc 1 was strongly expressed in the suprabasal cells of the epidermis during fetal skin development, and expression increased gradually in the granular layer and inner root sheath of the hair follicle. However, Dsc 1 was not expressed in basal cells or in oral mucosa. Dsc 1 may play a role in the maintenance of epithelial integrity as part of desmosomes.
Desmocollins ; Desmosomes ; Epidermis ; Epithelium ; Fetus ; Gestational Age ; Glycoproteins ; Hair ; Hair Follicle ; Mouth Mucosa ; Pregnancy ; Scalp ; Skin

BACKGROUND: Extramammary Paget disease (EMPD) is an uncommon malignant neoplasm affecting apocrine gland-bearing skin which usually occurs in the anogenital area of patients older than 50 years. Although Mohs micrographic surgery (MMS) is recommended for the treatment of EMPD, wide local excision has also been performed by many other surgeons including dermatosurgeons. However, the extent of an adequate resection margin is still under debate. OBJECTIVE: The efficacy of minimal surgical therapy consisting of a wide excision combined with preoperative multiple scouting biopsies and postoperative topical imiquimod was investigated for the treatment of EMPD in Korean patients. METHODS: Between 2006 and 2012, 10 patients with primary EMPD were treated with wide surgical excision, with a surgical margin of less than 2.5 cm. Multiple preoperative scouting biopsies and postoperative topical imiquimod were also performed to delineate the lesional boundaries and to reduce the recurrence rate. RESULTS: During the 6-year follow-up period, complications and recurrences were not observed. CONCLUSION: Minimal surgical therapy may be an effective alternative when MMS is unavailable.
Aminoquinolines ; Biopsy ; Follow-Up Studies ; Humans ; Mohs Surgery ; Paget Disease, Extramammary ; Recurrence ; Skin

No abstract available.
Cervix Uteri* ; Female

Metastatic carcinoma of the penis is rare and in most cases is associated with primary malignancy of the pelvic organs with widespread metastasis. A 64-year-old man presented with a 2 month history of skin-colored papules on his penis. He also had a history of total gastrectomy and chemotherapy due to advanced gastric carcinoma. Skin biopsy from the lesion revealed atypical polygonal cells with hyperchromatic & pleomorphic nuclei in the dermis. Results of immunohistochemical staining showed a positive reaction of CK7, and a negative reaction of CK20, PSA, and CD68. We report herein a case of metastatic cancer of the penis from gastric carcinoma.
Male ; Humans ; Biopsy ; Neoplasm Metastasis

Recently the change in medical informatics enabled us to use medical information whenever we want and wherever we are. There are many homepages on the web, which provide hospital information, medical counseling. Our multimedia center began its service as a internet Hospital in MIDAS Dongailbo, one of the major daily newspaper in Korea, on March 25th, 1997. The aim of this study is to examine the content and purpose of medical counseling on the web. The subjects consisted of 1,000 counsellings which were called 'Dongailbo Internet Hospital' for March, 25th, 1997 through October 30th, 1997. Many questioners wanted to know treatment principles, to make a diagnosis, and to know specific medical knowledges. The most common questions are as follows: general and unspecified, musculoskeletal, skin, digestive, respiratory, neurological problems.
Computer Communication Networks ; Counseling* ; Diagnosis ; Internet ; Korea ; Medical Informatics ; Multimedia ; Periodicals* ; Skin