No abstract available.
Aged* ; Humans ; Peripheral Nervous System Diseases*

Congenital adrenal hyperplasia, especially due to steroid-12-hydroxylase(P450c21) deficiency, is one of the most common autosomal recessive inborn errors at adrenal steroidogenesis in Korean. Molecular genetic analysis has demonstrated that there are two steroid 21-hydroxylase genes, CYP21A1P and CYP21A2. The CYP21A2 gene encodes P450c21, whereas the CYP21A1P gene is a pseudogene. Since there is 98 percent homology between the CYP21A1P and CYP21A2 gene in nucleotide sequences, it has hampered the characterization of molecular defects in the CYP21A2 gene.In this study, efforts have been made to selectively PCR amplify the CYP21A2 gene and test feasibility of DNA microextraction from Guthrie card for prospective use of molecular screening. This study was also aimed at investigating deletion mutations in P450c21 deficient patients, as well as allele frequencies and average heterozygosity of exon 1 A/C polymorphism in Korean newborns. Genomic DNAs were obtained from Guthrie cards of 50 Korean newborns by microextraction method and these DNAs were analyzed by PCR-allele specific oligonucleotide(ASO) hybridization. First part of the CYP21A2 gene has been successfully amplified and digested by restriction enzyme using Taq I or Kpn I, subsequently run on 1.5% agarose gel to confirm its specificity. The anterior 1141 bp PCR product was utilized to examine the frequency and average heterozygosity of exon 1 A/C polymorphism in 100 alleles by ASO dot blot hybridization. Amplified genomic DNAs from four P450c21 deficient patients out of three families were screened by PCR to see if any one has complete deletion of the CYP21A2 gene.The results were as follows;1) The average 1230ng of genomic DNA was obtained form single semi-circled Guthrie card of 1/2 inch diameter by microextraction method, which has been successfully used for DNA analysis.2) The PCR amplified anterior 1141 bp product from the CYP21A2 gene was digested by Kpn I, generating 309 bp, 832 bp fragments, not by Taq I, indicating its specificity.3) The frequencies of exon 1 nucleotide 138 A/C polymorphism in Korean population were 0.81, 0.91 respectively, and average heterozygosity was 0.31.4) None of four P450c21 deficient patients turned out to carry complete deletion of the CYP21A2 gene based on selective PCR amplification of the CYP21A2 gene.In conclusion, dried blood spots from Guthrie card can be sued for DNA analysis because of easy sample collection, bandling, shipment, and DNA extraction feasibility. The selective PCR amplification of the CYP 21A2 gene will pave the way for molecular characterization in P450c21 deficient patients. The exon 1 A/C polymorphism can by efficiently used for molecular diagnosis of P450c21 deficiency in informative families, though it has a drawback of handling radioactive material.
Adrenal Hyperplasia, Congenital ; Alleles ; Base Sequence ; Diagnosis ; DNA ; Exons ; Gene Frequency ; Humans ; Infant, Newborn ; Mass Screening ; Methods ; Molecular Biology ; Polymerase Chain Reaction ; Prospective Studies ; Pseudogenes ; Sensitivity and Specificity ; Sepharose ; Sequence Deletion ; Steroid 21-Hydroxylase

No abstract available.
Animals ; Electric Stimulation* ; Rats* ; Skin*

No abstract available.
Animals ; Atrophy* ; Electric Stimulation* ; Muscle, Skeletal* ; Rats* ; Sciatic Nerve*

he Magnetic. resonance imaging has been used widely to evaluate the disk position without any interruption of the TMJ structures, and the dynamic MRI presenting computed serial imaging or the video-recorded simulation images is thought to be very effective to evaluate the disk position under function. This is to study the correlation between the clinical diagnosis and the findings of dynamic MRI for diagnosis of internal derangement of the 7 patients were examined clinically, and the movement of TMJ meniscus was reviewed in the dynamic MRI. MRI was very reliable to diagnose the amount of anterior displacement of articular disc, the structural abnormality of temporomandibular joint, the cause of functional limitation, and to differentiate the muscle related pain & dysfunction.
Diagnosis ; Humans ; Magnetic Resonance Imaging* ; Temporomandibular Joint Disorders* ; Temporomandibular Joint*

To investigate the correlation between urinary growth hormone(GH) level and peak serum GH level, urinary GH value measured by overnight collection of urine for 10 hours and serum GH value in response to GH provocation test using insulin and L-dopa were measured in 9 cases of GH complete deficiency(GCD), 19 cases of GH partial deficiency(GPD) and 40 cases of GH normal short stature(GHN). Urinary GH values were measured by the EIA method using PICOIA HGH plate(Joo Woo Pharmaceutical Co., Japan). Urinary GH was expressed in terms of nanograms per gm creatinine(ng/gCr). Serum GH was measured by immunoradiometric assay using "Daiichi kit"(Je Il Pharmaceutical Co., Japan). Wilcoxon ranked sum test and student's t-test were used to assess the significance of differences between the groups of the patients. The correlation between urinary GH level and peak serum GH level was assessed by the parametric Pearson correlation test. The correlation between peak serum GH level in GH provocation test using insulin and urinary GH level measured by overnight 10 hours collection method showed statistically significant results in all the patients(Y=0.464072X +9.208044, r=0.48987, p=0.0001) and in the GH deficiency groups(GCD+GPD) (Y=0.924659X +9.2385509, r=0.80437, p=0.0001). In case of L-dopa stimulation test, urinary GH values were also positively correlated with peak serum GH level when all the patients were participated(Y=0.572988X +8.312993, r=0.58212, p=0.0001). In contrast, no correlation was found when patients were confined to GH deficiency group(GCD+GPD)(Y=0.127712X +8.3129939, r=0.08044, p=0.6841).
Dihydroxyphenylalanine ; Growth Hormone ; Humans ; Immunoradiometric Assay ; Insulin ; Levodopa ; Methods

Tamoxifen is a nonsteroidal triphenylethylene delivative that has been widely used in the treatment of breast cancer. tamoxifen is indicated for the adjuvant treatment of breast cancer in women following total mastectomy or segmental mastectomy, breast irradiation and chemotherapy. tamoxifen has been shown to have significant benificial effect in the treatment of breast cancer patient as hormonal therapy. However ,there is mounting evidence that tamoxifen may affect other hormon sensitive organs, including the uterus and ovaries. An increased risk of endometrial polyps, endometrial hyperplasia and adenocarcinoma has been reported in tamoxifen treated women. We have met cases of endometrial polyp and endocervical polyp which were associated with tamoxifen use, after modified radical mastectomy for infilterating ductal carcinoma of breast . So we report these cases with the brief review of literatures.
Adenocarcinoma ; Breast ; Breast Neoplasms ; Carcinoma, Ductal ; Drug Therapy ; Endometrial Hyperplasia ; Female ; Humans ; Mastectomy, Modified Radical ; Mastectomy, Segmental ; Mastectomy, Simple ; Ovary ; Polyps* ; Tamoxifen* ; Uterus

Three cases who were successfully treated for cardiac injuries by open thoracotomy were reported. The range of the ages of the patients was 3rd decade. Two of the 3 were males with blunt injuries by motor vehicle accident and one was male with stab wound by knife. In the case of blunt injuries, the right atrium was involved in one case and the right and left atrium were involved in the other. The site of stab wound was the right atrium. There were two cases with the pre-operative diagnosis of cardiac injuries and they were blunt injuries. The case of stab wound was not diagnosed pre-operatively. All cases were treated with open thoracotomy-one posterolateral thoracotomy, one median sternotomy and one Clam shell incision. All of them had an uneventfull post-operative course.
Bivalvia ; Diagnosis ; Heart Atria ; Humans ; Male ; Motor Vehicles ; Sternotomy ; Thoracotomy ; Wounds, Nonpenetrating ; Wounds, Stab

No abstract available.
Funnel Chest*

No abstract available.
Arm* ; Glomus Tumor*