We have investigated the use of a nested polymerase chain reaction(PCR) assay with Y-specific sequence from the DYS 14 locus on the short arm of Y-chromosome for prenatal sex determination in the peripheral blood of 22 pregnant women who participated in the antenatal genetic diagnosis program. The sensitivity and specificity of the nested PCR using DYS 14 locus primers(Y1.5,Y1.6, and Y1.7,Y1.8) were 76.4% and 55.5%, respectively. In terms of gestational age, positive predictive values of 66.6%, 66.6%, and 80% were obtained for the first, second, and third trimester respectively. The corresponding negative predictive values were 50%, 50%, and 100% respectively. Male specific band was positive in three of the six cases of female bearing women and male specific band was negative in three of the seven cases of male bearing women during 9-16 gestational weeks showing low sensitivity. But all cases except one show the male specific band during the male fetus and all female fetuses did not show the male specific 198 base pair band during 18 approximately 40 gestational weeks. This study suggests that prenatal sex determination by PCR employing maternal peripheral blood was usually possible in late pregnancy but less reliable in early pregnancy. It seems that if we used a method separating fetal cells from maternal blood and then run PCR on these cells with DYS 14 locus primers we could make a fairly accurate fetal sex determination.
Base Sequence ; Female ; Fetus/*physiology ; Gestational Age ; Human ; Male ; Molecular Probes/genetics ; Molecular Sequence Data ; *Polymerase Chain Reaction ; Pregnancy/*blood ; *Sex Determination (Analysis)

No abstract available.
Diagnosis* ; DNA*

BACKGROUND: In patients with leprosy, paralysis of the facial nerve results in the lower eyelid ectropion and lagophthalmos as a sequela even when the leprosy is cured. Paralytic ectropion causes many functional and cosmetic eye problems, leading to blindness if left untreated. OBJECTIVE: The purpose of this retrospective study is to evaluate the efficacy of surgical correction of paralytic ectropion, the lateral tarsal strip, in patients with leprosy. METHODS: Between 2010 and 2015, 40 Korean patients (44 eyelids) with paralytic ectropion who had visited Korean Hansen Welfare Association Hospital were treated with the lateral tarsal strip. Four-point patients' global assessment scale, local complications, and recurrence were assessed at the end of follow-up period. The average follow-up period was 12 months. RESULTS: In the 44 eyelids, recurrence was observed in 5 cases (5/44, 11.4%). There were no serious postoperative complications except mild size discrepancy of both eyes. Most patients were satisfied with the results and mean satisfaction scale was 2.6/3. CONCLUSION: The lateral tarsal strip is a simple, safe, and effective treatment method for the dermatologic surgeon to correct paralytic ectropion of mild to moderate degree in patients with leprosy.
Blindness ; Ectropion* ; Eyelids ; Facial Nerve ; Follow-Up Studies ; Humans ; Leprosy* ; Methods ; Paralysis ; Postoperative Complications ; Recurrence ; Retrospective Studies

No abstract available.
Carcinoma, Basal Cell* ; Forehead* ; Humans ; Leprosy*

Multiple myeloma (MM) can be defined as a malignancy with monoclonal plasma cell proliferation. A 66-year-old man presented with pruritic erythematous to purplish plaque grouped nodule with black pigmentations and purpura on the right forearm. The patient was diagnosed with MM about five years prior to the visit at our hospital. Erythematous plaque on his right arm grew rapidly in size over one month and appeared about seven months after the fracture surgery. Skin biopsy showed multiple plasma cell infiltration with monoclonality for lambda light chain, which was consistent with cutaneous plasmacytoma. The patient refused to be treated and died two months later. We herein report an interesting case of cutaneous plasmacytoma at the surgical site of fracture repair.
Aged ; Arm ; Biopsy ; Forearm ; Humans ; Multiple Myeloma* ; Neoplasm Metastasis* ; Pigmentation ; Plasma Cells ; Plasmacytoma* ; Purpura ; Skin

No abstract available.
Blue Toe Syndrome* ; Disseminated Intravascular Coagulation*

No abstract available.
Occupational Diseases

Segmental neurofibromatosis is a rare form of neurofibromatosis that is characterized by neurofibromas and/or café au lait macules, limited to one region of the body. The neurofibromas of segmental neurofibromatosis are most commonly occupied by either a cervical or a thoracic dermatome. Segmental neurofibromatosis on the face is extremely rare, and only 10 cases have been described so far. Herein, we report a case of segmental neurofibromatosis on the V1 dermatome for its rarity and unusual location.
Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1 ; Trigeminal Nerve

Kaposi's sarcoma is a multifocal proliferative vascular tumor involving the skin and other organ and psoriasis is a chronic cutaneous disease with papules and plaques with white scale. Development of Kaposi's sarcoma in psoriasis patients has been reported rarely. A 71-year-old man presented with multiple brownish to violaceous plaques on both feet and arms which were found 4 months ago. The biopsy confirmed Kaposi's sarcoma. The patient was diagnosed with psoriasis vulgaris 10 years ago and Kaposi's sarcoma lesions developed between psoriatic plaques. We herein report a rare case of simultaneous occurrence of Kaposi's sarcoma and psoriasis vulgaris which need quite different treatment.
Aged ; Arm ; Biopsy ; Foot ; Humans ; Psoriasis ; Sarcoma, Kaposi* ; Skin

Complete or partial triplication of human chromosome 21 results in Down syndrome (DS). To analyze differential gene expressions in amniotic fluid (AF) cells of DS, we used a DNA microarray system to analyze 102 genes, which included 24 genes on chromosome 21, 28 genes related to the function of brain and muscle, 36 genes related to apoptosis, 4 genes related to extracellular matrix, 8 genes related to other molecular function and 2 house-keeping genes. AF cells were collected from 12 pregnancies at 16-18 weeks of gestation in DS (n=6) and normal (n=6) subjects. Our DNA microarray experiments showed that the expressions of 11 genes were altered by at least 2-folds in DS, as follows. Ten genes, COL6A1, CASP5, AKT2, JUN, PYGM, BNIP1, OSF-2, PRSS7, COL3A1, and MBLL were down-regulated and GSTT1 was only up-regulated. The differential expressions of GSTT1 and COL3A1 were further confirmed by semi-quantitative RT-PCR for each sample. The gene dosage hypothesis on chromosome 21 may explain the neurological and other symptoms of DS. However, our results showed that only two genes (COL6A1 and PRSS7), among 24 genes on chromosome 21, were down-regulated in the AF cells of DS. Our data may provide the basis for a more systematic identification of biological markers of fetal DS, thus leading to an improved understanding of pathogenesis for fetal DS.
Amniocentesis ; Amniotic Fluid/*cytology/*metabolism ; Apoptosis ; Cells, Cultured ; Chromosomes, Human, Pair 21 ; Collagen Type III/biosynthesis ; DNA, Complementary/metabolism ; Down Syndrome/*genetics/metabolism ; Down-Regulation ; Gene Dosage ; Gene Expression ; *Gene Expression Regulation ; Glutathione Transferase/biosynthesis ; Humans ; Models, Genetic ; *Oligonucleotide Array Sequence Analysis ; Research Support, Non-U.S. Gov't ; Reverse Transcriptase Polymerase Chain Reaction ; Time Factors ; Up-Regulation