BACKGROUND: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the elastin gene. We examined the deletion in Korean Williams syndrome patients and their parents. MATERIALS AND METHOD: Sixteen patients were selected through careful clinical examination including echocardiography and cardiac angiography. Hemizygotic deletion of elastin gene was determined in patients and 21 parents with fluorescent in situ hybridization (FISH) technique using the bacterial artificial chromosome clone 244H3 probe or commercial WSCR probe. RESULTS: FISH showed hemizygotic deletion of chromosome 7 in all sixteen patients but none of their parents showed deletion. CONCLUSION: Hemizygotic deletion of elastin gene can be determined by FISH with new probe 244H3 in clinically suspected Williams syndrome patients.
Angiography ; Aortic Stenosis, Supravalvular ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, Pair 7 ; Clone Cells ; Echocardiography ; Elastin* ; Humans ; In Situ Hybridization, Fluorescence* ; Intellectual Disability ; Parents ; Williams Syndrome*

No abstract available.
Cerebral Palsy*

No abstract available.
Thrombectomy* ; Venous Thrombosis*

OBJECTIVE: There is increasing evidence for the expression of rat LH gene in several extrapituitary sites including testis and ovary. We also have demonstrated that the local LH expression in the rat epididymis and uterus, the major accessory sex organs in male and female reproductive system, respectively. DESIGN: The present study was undertaken to elucidate whether the gene for LH receptor is expressed in rat uterus and whether the expression of uterine LH and its receptor are differentially regulated during estrous cycle. Presence of the transcripts for rat LH receptor in the rat uterine tissue were confirmed by touchdown reverse transcription-polymerase chain reaction (RT-PCR). RESULTS: In LHbeta semi-quantitative RT-PCR, the highest expression level was shown in estrus stage. The level of LH receptor transcripts was also fluctuated during estrous cycle. In ovariectomized rats (OVX + Oil), the expressions of both uterine LH and LH-R were markedly reduced when compared to those from normal rats. Supplement with estradiol 17beta to the ovariectomized rats (OVX + E2) restored the expression levels of LH and its receptor to the levels in uteri from normal rats. CONCLUSION: Our findings indicated that 1) LH and its receptor gene are expressed in the rat uterus from cycling rats, 2) the expression of uterine LH and its receptor is mainly, if not all, under the control of ovarian sex steroid(s). These results suggested that the uterine LH may act as a local regulator with auto and/or paracrine manner, though the posibility that the pituitary LH may act directly on the regulation of uterine functions could not be discarded.
Animals ; Epididymis ; Estradiol ; Estrous Cycle ; Estrus ; Female ; Genitalia ; Humans ; Lutein* ; Luteinizing Hormone* ; Male ; Ovary ; Rats* ; Receptors, LH ; Testis ; Uterus*

OBJECTIVES: Recent studies, including our own, demonstrated that the novel expression of LH gene in rat gonads and uterus, indicating that the local production and action of the LH-like molecule. In the present study, we investigated whether human uterus also expresses the LH gene. DESIGN: Reverse transcription-polymerase chain reaction (RT-PCR) amplified the cDNA fragments coding LHbeta polypeptide from human endometrium but not from myometrium. Presence of the transcripts for the alpha-subunit in human endometrium was also confirmed by RT-PCR. RESULTS: Transcripts for LHbeta subunit were detected in endometrial samples from women with endometriosis. The gene for LH/hCG receptor was expressed in both endometrium and myometrium, showing good agreement with previous studies. Increased level of LHbeta transcript was determined in the endometrium from follicular phase compared to that from luteal phase. CONCLUSION: Taken together, our findings demonstrated that 1) the gense for LH subunits and LH/hCG receptor are expressed in human uterus, 2) the uterine LH expression was changed during menstrual cycle, suggesting that the uterine LH may play a local role in the control of uterine physiology and function(s).
Animals ; Clinical Coding ; DNA, Complementary ; Endometriosis ; Endometrium ; Female ; Follicular Phase ; Gonads ; Humans* ; Luteal Phase ; Lutein* ; Menstrual Cycle ; Mice ; Myometrium ; Physiology ; Rats ; Uterus*

No abstract available.
Diagnosis* ; Intervertebral Disc* ; Magnetic Resonance Imaging*

A clinical study was performed to evaluate the effectiveness of Zomepirac in 27 patients who had undergone bone surgery, 13 patients who had soft tissue surgery and 7 non-surgical patients admitted to the department of orthopedic surgery of Hanyang University Hospital from Oct., 1981 to Nov., 1981. The conclusions were as follows: 1. To decrease pain by half, Zomepirac was determined to be much more effective in patients with severe pain than in patients with moderate pain. 2. The initial pain relief was also more marked in patients with severe pain than in patients with moderate pain. 3. The duration of analgesia with Zomepirac was longer in patients with severe pain than in patients with moderate pain. 4. The duration of pain relief after medication with Zomepirac was from 1 to 3 hours in 79.3% of patients. 5. The results of treatment were excellent in 5 patients (10.6%), very good in 5 patients (10.6%), good in 7 patients (14.9%), fair in 4 patients (8.5%), poor in 1 patient (2.2%), when the intensity of pain before treatment was severe; but fair in 13 patients (27.7%), poor in 11 patients (23.3%), when the pain was moderate. Thus the clinical results demonstrated that this medication was remarkably effective in patients with severe pain and much less so in patients with only inoderate pain. 6. Side effects were mild transient drowsiness in 3 patients (6.3%) and gastric colic in 2 patients (4.3%). In patients with drowsiness was continuously administered. The gastric colic subsided when the medication was combined with antacid.
Analgesia ; Clinical Study ; Colic ; Humans ; Orthopedics ; Sleep Stages

Reconstruction of partial ear defect to approximate the opposite normal ear is actually very difficult. Because the patterns of partial ear defect (site, shape and size of defect) are extremely variable, the operative method on each case should be changed. In an effort to overcome these problems, many reconstructive methods have been reported so far. We experienced 11 cases of partial ear defect from September, 1995 to August, 1996 and different reconstructive methods were applied In this study, the most common cause of partial ear defect was trauma (9 cases) and the most common site was middle part of ear helix. The defects were varying from 1x2 cm to 1.5x5 cm in size. The methods that has been used for reconstruction of ear defect include direct closure, helical chondrocutaneous advancement flap, Dieffenbach's method, retroauricular flap, tubed bipedicled flap and so on. We could get to know the merits and demerits of each method through this follow up study. So authors obtained the several basic conclusions about the merits and demerits of each method and standard of method selection in various patterns of ear defects. From analysis of the cases with review of literature, the our conclusions are as follows. 1. If the size of de(tract is small and the patient does not want to have two times of operation, direct closure can be done with good results. 2. If the defect exists on ear auricle confuted to helix and if there are no or small amount of associated cartilage defect, tubued bipedicled flap seems to be proper. 3. With the ear auricle defect confined to helix, especially helix of upper ear auricle, helical chondrocutaneous advancement flap can brought tile best result, though it has disadvantage of being decreased in its size 4. If there are extensive defect on ear auricle extending over scapha and antihelix, retroauricular flap can be done with good results. 5. In the ear auricle defect acompanying considerably large cartilage loss, Dieffenbach's method is thought to be proper.
Cartilage ; Ear Auricle ; Ear* ; Follow-Up Studies ; Humans

A clinical study was made on 73 cases of benign prostatic hypertrophy admitted to the Dept. of Urology, Chosun University Hospital during the period from Jan. 1977 to Dec. 1981. The results were as follows: 1. The admission rate was 8.5%, 73 cases of all 856 cases hospitalized. 2. The patient age ranged from 49 to 90 years, with a mean of 71.6 years and the seventh decade (45.2%) was most frequent. 3. The mean duration of the symptom was 32.8 months, with a range of 15 days to 15 years. The presenting symptom in 61 cases (83.6%) were frequency, in 52 cases (71.2%) dysuria, in 43 cases (58.9%) acute onset of urinary retention etc. 4. The urinalysis revealed hematuria in 38 cases and pyuria in 33 cases and the blood chemistry showed elevated BUN in 21 cases and elevated creatinine in 14 cases. 5. The endoscopic examination performed in 60 cases revealed trabeculation in 52 cases (86.7%), kissing of lateral lobes in 47 cases (78.3%) and enlarged median lobe in 34 cases (56.7%) etc. 6. The surgical treatment was performed in 35 cases of total 73 cases, of which suprapubic prostatectomy was underwent in 27 cases and T.U.R. in 8 cases. 7. The mean amount of blood transfusion was 1.7 pints in the suprapubic prostatectomy and 0.4 pints in the T.U.R. The mean weight of removed prostatic tissue was 33.6gm. in the suprapubic prostatectomy and 4.3gm. in the T.U.R. 8. The duration of postoperative catheter drainage averaged 13.3 days in the suprapubic prostatectomy and4.5 days in the T.U.R. 9. The complications of prostatectomy were temporary incontinence in 12 cases (34.3%), delayed hematuria in 8 cases (22.9%), acute epididymitis in 4 cases (11.4%), wound infection in 3 cases (8.6%) and inability to void in one case (2.9%).
Blood Transfusion ; Catheters ; Chemistry ; Creatinine ; Drainage ; Dysuria ; Epididymitis ; Hematuria ; Humans ; Male ; Prostatectomy ; Prostatic Hyperplasia* ; Pyuria ; Urinalysis ; Urinary Retention ; Urology ; Wound Infection

Congenital ectodermal dysplasia are a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. It devided hidrotic type and anhidrotic type by geneologic origin and distinct clinical manifestationa. The hidrotic type usually trait by autosomal dominant gene and manifested dystrofic nails, defect of hair and eyebrow and palmoplantar hyperkeratosis. This patient is 16 year oId male. He had been dystrophic nails, alopecia since at birth, thereafter palmoplantar hyperkeratosis, clubbing fingers noted. C.R.C. Urinalysis, stool examination, chest x-ray were within normal limit. Biopsy specimen from palm revealed hyperkeratosis, hypergranulosis, acanthosis and, mild inflamrnatory cell infiltrate on upper dermis. Biopsy speeimen from the scalp revealed norrriaI findings except slight hypoplasia of ebaceaus gland.
Alopecia ; Biopsy ; Dermis ; Ectoderm ; Ectodermal Dysplasia* ; Eyebrows ; Fingers ; Genes, Dominant ; Hair ; Humans ; Male ; Parturition ; Scalp ; Thorax ; Urinalysis