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*

SUMMARY: The present study was performed to analyze the expression of LH genes in the rat ovary. Expression of LH subunit genes in the rat ovary was demonstrated by amplification of ovarian RNA by RT-PCR. The ovarian LHbeta transcripts contained at least two parts of the published cDNA structure, the pituitary exons 1, 2 and 3 and the part of testicular exon 1 in the major trancripts form in rat testis. Using RIA, significant amount of LH-like molecules were detected in crude ovarian extracts, and the competition curves with increasing amount of tissue extracts were parallel with those of standard peptide, indicating that the ovarian immunoreactive LH-like material is similar to authentic pituitary LH molecule. The administration of PMSG to immature rats resulted in a sharp decrease of the ovarian LH contents after 24 h post-injection. In conclusion, these findings demonstrate that genes for LH subunits are expressed in the rat ovary, and suggest that LH can play a central role in regulation of female reproduction with both endocrine (by pituitary LH) and auto- and/or para-crime (by ovarian LH) manner.
Animals ; DNA, Complementary ; Exons ; Female ; Humans ; Lutein* ; Luteinizing Hormone* ; Ovary* ; Rats* ; Reproduction ; RNA ; Testis ; Tissue Extracts

A case of congenital coloboma of Iris and Choroid in both eyes and associated with optic nurve in left eye, who was 36 years old labor man, is reported, and also the author attempted to survey the embryological literatures for its original causes and heredity. This case was typical form without persistent pupillary membrane or lens change, and was not hereditary nature.
Adolescent ; Adult ; Blindness* ; Choroid* ; Coloboma* ; Diagnosis ; Female ; Hemianopsia* ; Heredity ; Humans ; Iris* ; Membranes ; Military Personnel ; Optic Nerve* ; Paragonimiasis* ; Skin Tests ; Skull ; Visual Fields ; Young Adult

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*

The response of plasma renin activity and Na, K content to physiological stimuli; supine, standing after liberal salt intake and salt loading, was observed in the normal human and patients with essential hypertension. The results are as follow: 1) The substance obtained from sample that exert contractile activity to rat colon, had blood pressure raising activity. Method in this experiment was able to detect angiotensin-II for concentration of 1 ng. 2) In normal, plasma Na content of supine state with liberal salt intake showed 142.2+/-1.8 mEq/L, but it was increased to 151.0+/-5.9 mEq/L after salt loading. In standing, plasma Na content showed 141.5+/-2.5 mEq/L with liberal salt intake. 3) In normal, plasma Na content of liberal salt intake showed 142.2+/-1.8 mEq/L in supine and 141.5+/-2.5 mEq/L in standing. The pasma Na content in supine after salt loading was significantly reduced by standing (143.7+/-1.5 mEq/L). 4) In normal, plasam renin activity of supine showed 7.3+/-1.6 mg/ml with liberal salt intake and 4.8+/-1.1 ng/ml with salt loading. The plasma renin activity in standing showed 12.8+/-3.1 ng/ml witn liberal salt intake and 7.3+/-1.1 ng/ml with salt loading. In both cases the salt loading decreased the plasma renin activity significantly. 5) In normal, the plasma renin activity of liberal salt intake or salt loading was significantly increased by standing compared with that of supine state. 6) In hypertensive patients with subnormal plasma renin activity, the plasma Na content in supine state showed 144.5+/-0.7 mEq/L with diuretics and 145.5+/-3.3 mEq/L with salt loading. In hypertensive patients with normal or high plasma renin activity, the plasma Na content in supine state showed 129.5+/-7.3 mEq/L with diuretics and 136.5+/-3.0 mEq/L with salt loading. In standing, plasma Na content was 132.5+/-3.1 mEq/L with diuretics and 135.7+/-2.5 mEq/L with salt loading. In hypertensive patients, the lower renin activity cases showed higher plasam Na content. 7) In hypertensive patients with subnormal renin activity, the plasma Na content tend to decrease by standing compared with that of supine state. 8) In hypertensive cases of low renin activity, the plasma renin activity in supine was 3.6+/-1.5 ng/ml with diuretics and 2.4+/-1.1 ng/ml with salt loading, and in standing, it was 6.0+/-2.1 ng/ml. with diuretics and 3.7+/-1.9 ng/ml with salt loading. In cases of high renin activity, the plasma renin activity in supine was 9.3+/-2.3 ng/ml with diruetics and 6.0+/-1.2 ng/ml with salt loading and in standing, it was 18.0+/-3.5 ng/ml with diuretics and 9.7+/-0.5 ng/ml with salt loading. 9) In patients with essential hypertension, we found that the plasma renin activity was incrased or not. It is suggest that the increased renin activity is not the cause of essential hypertension but is caused by essential hypertension.
Animals ; Blood Pressure ; Colon ; Diuretics ; Humans ; Hypertension* ; Plasma* ; Rats ; Renin* ; Sodium*

1. Present study was made to observe the plasma renin activity in the patients of benign essential hypertension, malignant hypertension, acute or chronic glomerulonephritis, liver cirrhosis with or without ascites, congestive heart failure, and massive bleeding due to various causes. 2. It was found that the substance with constrictive action on the rat colon had the hypertensive action. 3. The normotensive group showed the renin activity of 1.81+/-1.18ng/ml. 4. Benign hypertension group showed the level of 3.14+/-3.27 ng/ml which was the significantly elevated level compared to the normal group. 5. Malignant hypertensive group showed 8.47+/-9.48 ng/ml, which was not only the apparently elevated value than that of normal group, but also showed significant difference from that of benign essential hypertension. 6. The levels of 5.6+/-2.88 ng/ml and 27.5+/-12.36 ng/ml in chronic and acute glomerulonephritis respectively showed the significantly elevated level than the normal group, and the difference between the acute and chronic glomerulonephritis was also found to be significant. 7. The hepatic cirrhosis with or without ascites showed the level of 3.77+/-2.83 ng/ml and 0.80+/-0. ng/ml respectively. The value of the former was the significantly elevated compared with the normal group, and the later was lowered. 8. The level of 11.11+/-4.12 ng/ml was significantly elevated compared to that of normal group in congestive heart failure. 9. It is suggested that the renin activity assumes to be changed to the kind and the phase of the diseases and according to present data of elevated renin activity in essential hypertension, renin may play a secondary role in essential hypertension rather than to be a primary.
Animals ; Ascites ; Colon ; Glomerulonephritis ; Heart Failure ; Hemorrhage ; Humans ; Hypertension ; Hypertension, Malignant ; Liver Cirrhosis ; Plasma* ; Rats ; Renin*

Recent studies clearly demonstrated that the novel expression of LH gene in the rat testis, and suggested the local action of the LH-like molecule. The present study was performed to analyze the expression of the LH genes in the rat accessory reproductive organs. Expression of LH subunit genes in the rat uterus and epididymis was demonstrated by reverse transcription-polymerase chain reaction (RT-PCR) and specific LH radioimmunoassay (RIA). The LHbeta transcripts in these organs contained the published cDNA structure, the pituitary type exons 1-3, which encoded the entire LHbeta/ polypeptide. Presence of the transcripts for the alpha-subunit in the rat reproductive tissues were also confirmed by RT-PCR. In the LH RIA, significant levels of LH were detected in crude extracts from the rat ovary, uterus and epididymis. The competition cuties with increasing amount of tissue extracts were parallel with those of standard peptide, indicating that the immunoreactive LH-like materials in these tissues are similar to authentic pituitary LH molecule. In rat epididymis, the highest amount of immunoreactive LH was detected in corpus area. Our findings demonstrated that the genes for LH subunits are expressed in the rat accessory reproductive organs, and suggested that these extrapituitary LH may act as a local regulator with auto and/or paracrine manner.
Animals ; Complex Mixtures ; DNA, Complementary ; Epididymis* ; Exons ; Female ; Lutein* ; Luteinizing Hormone* ; Male ; Ovary ; Radioimmunoassay ; Rats* ; Testis ; Tissue Extracts ; Uterus*