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

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

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

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

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

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

No abstract available.
Occupational Diseases

To investigate the XIST gene expression and its effect in a Klinefelter''s patient, we used Klinefelter''s syndrome (XXY) patient with azoospermia and also used a normal male (XY) and a normal female (XX) as the control, We were performed cytogenetic analysis, Y chromosomal microdeletion assay (Yq), semi-quantitative RT-PCR, and the Northern blot for Klinefelter''s syndrome (KS) patient, a female and a male control, We extracted total RNA from the KS patient, and from the normal cells of the female and male control subjects using the RNA prep kit (Qiagen), cDNA microarray contained 218 human X chromosome-specific genes was fabricated. Each total RNA was reverse transcribed to the first strand cDNA and was labeled with Cy-3 and Cy-5 fluorescein, The microarray was scanned by ScanArray 4000XL system. XIST transcripts were detected from the Klinefelters patient and the female by RT-PCR and Northern blot analysis, but not from the normal male, In the cDNA microarray experiment, we found 24 genes and 14 genes are highly expressed in KS more than the normal male and females, respectively. We concluded that highly expressed genes in KS may be a resulted of the abnormal X inactivation mechanism.
Azoospermia ; Blotting, Northern ; Cytogenetic Analysis ; DNA, Complementary* ; Female ; Fluorescein ; Gene Expression ; Humans ; Klinefelter Syndrome* ; Male ; Oligonucleotide Array Sequence Analysis* ; RNA ; X Chromosome Inactivation* ; X Chromosome*