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

Acral persistent papular mucinosis is a subtype of the localized papular mucinosis. Clinically, ivory to flesh-colored papules develop exclusively on the back of the hands, the extensor surface of the wrists, and occasionally the distal forearms. Histologically, mucin accumulates in the upper reticular dermis, typically sparing a subepidermal zone and fibroblasts are not increased in number. On experiencing a case of numerous papules on both hands and forearms of a fifty year-old woman, we present it as acral persistent papular mucinosis.
Dermis ; Female ; Fibroblasts ; Forearm ; Hand ; Humans ; Mucins ; Scleromyxedema* ; Wrist

Exogenous lipold pneumonia is an unusual disease resulting from aspiration of oil particles. A history of oil ingestion strongly suggests the diagnosis, but the radiological presentation varies from mild perihilar consolidation to diffuse and extensive bilateral involvement, particularly of the posterior basal segment of both lower lung(l). Since magnetic resonance(MR) provides greater contrast resolution than CT, it offers the potential for tissue characterization. In particular, fatty tissue and lipid containing substances are known to have high signal intensities on T1- and T2-weighted spin-echo (SE) images. We report MR findings in two case of exogenous lipold pneumonia caused by ingestion of shark liver oil(Squalene).
Adipose Tissue ; Diagnosis ; Eating ; Liver ; Pneumonia* ; Sharks

We have recently experienced a case of cysticercosis treated with praziquantel. The patient, 22-year-old female, with 43 cystic masses had marked clinical response to the administration of praziquantel (75 mg/kg/day) for 7 days. It seems that praziquantel, anticestodal agent, might be a safe and effective therapy for this infection.
Cysticercosis* ; Female ; Humans ; Praziquantel* ; Young Adult

A 10-year-old boy with arteriovenous malformation (AVM) of the right lower limb was scheduled for an amputation of the affected limb. Limb amputation was necessary because of the ineffectiveness of previous sclerotherapy and the rapid progression of AVM causing pain and heart failure. Right hip disarticulation was considered the best option to improve his quality of life. To prevent congestive heart failure and uncontrollable hemorrhage during surgery, the disarticulation was done under a partial cardiopulmonary bypass. The patient underwent surgery successfully without complications.
Amputation ; Arteriovenous Malformations* ; Cardiopulmonary Bypass ; Child ; Disarticulation ; Extremities ; Heart Failure ; Hemorrhage ; Hip ; Humans ; Lower Extremity* ; Male ; Quality of Life ; Sclerotherapy

PURPOSE: An excess of GH causes various problems within the cardiovascular system including cardiac hypertrophy and abnormalities of left ventricle (LV) function. To evaluate the cardiovascular effects due to GH treatment in idiopathic short stature (ISS), we measured the cardiovascular function. METHODS: Twenty-two echocardiographic studies were performed in ISS who were admitted from Jan. 1994 through Jul. 1996, and they were divided into two groups which revealed in 11 children with GH treatment and in 11 children without GH treatment. RESULTS: The results obtained were as follows, 1) The mean HR in GH group was significantly lower than that of control group (79.9+/-12/min vs. 90.2+/-9/min) (p<0.05), and the mean BP was the GH group 81.6+/-10mmHg and control group 77.7+/-7mmHg. 2) The mean LV isovolumic contraction time (LICT) in GH group was significantly longer than that of control group (35.6+/-3 vs. 32.3+/-2) (p=0.01), but within normal limits. And in GH group, the mean shortening fraction (SF), mean velocity of circumferential fiber shortening (mVcf), and systolic time interval (STI) were 33.9+/-3%, 0.99+/-0.2cir/sec, and 0.15+/-0.04, respectively. In control group, the mean those values were 33.4+/-5%, 0.95+/-0.2cir/sec, and 0.15+/-0.04, respectively. 3) In GH group, the mean isovolumic relaxation time (IRT), peak E velocity (E), peak A velocity (A), and Ea/Aa ratio were 0.05+/-0.01sec, 113.5+/-18cm/sec, 60.5+/-14cm/sec, and 3.9+/-2, respectively. In control group, the mean those values were 0.06+/-0.01sec, 117+/-1.4 cm/sec, 56.8+/-13cm/sec, and 4.7+/-2, respectively. 4) In GH group, the mean cardiac index (CI) and systemic vascular resistance (SVR) were 4304+/-1660ml/min/m2 and 6330+/-764mmHg/ml. In control group, the mean those values were 3835+/-838ml/min/m2 and 6218+/-588mmHg/ml. CONCLUSIONS: These results suggest that the cardiovascular effects did not differ from those in the controls and remained within the normal range after a mean GH treatment duration of 6.2 months.
Cardiomegaly ; Cardiovascular System ; Child ; Echocardiography ; Growth Hormone* ; Heart Ventricles ; Humans ; Reference Values ; Relaxation ; Systole ; Vascular Resistance

The aim of the present work is to evaluate the most accurate technique for analysirig low levels of serum IgE. Following results are obtained from experiments by PRIST, Overnight PRIST, PRIST using RAST anti-IgE tracer and Overnight PRIST using RAST anti-IgE tracer methods with cord serum and maternal serum of 21 individuals respectively. 1) There was no statistical significance in maternal serum IgE titer using above 4 methods. However, the higher level of IgE titer was found in PRIST method when IgE was over 190 IU/ml(5 cases) estimated by PRIST method and in Overnight PRIST using RAST anti-IgE tracer method when Ig.E was below lgp IU/ml (16 cases) (p40.05). 2) In cord serum IgE titer, only Overnight PRIST using RAST anti-IgE tracer method showed statistical significance. 3) The most desirable correlation coefficient between maternal serum and cord serum IgE titer was estimated by Overnight PRIST using RAST anti-IgE tracer method than any other rnethods.
Immunoglobulin E*

The influence of serum IgE level on T cell function and number in atopic dermatitis was performed. For the study we selected 2 groups of atopic derrnatitis patients which were 10 cases of atopic dermatitis patients with more than 400 IU/ml of serum 1gE level and 1(l cases with less than 400 IU/ml, The lymphocyte transformation test with phytohernagglutinin and E-rosette test with AET treated sheep cell were perforrned in each group and compare the result of each group with each other and al'o with those of control group. The reults are as follows; l. The mean serum level of IgE in AD(538. 8 407.42 IU/ml) was higher than in normal control(126. 5 133, R8 IU/ml) (p<0.01). 2 The mean LTT S.I. in AD(8.83 -3.85) was lower than in nomnal control (13.99 5.55) (p<0.01). 3. The mean percentage of E-rosette in AD(68,65+6.6g) was lower than 4pp IU/ml(mean+2x SD of serum IgE of control groups), 1) The LTT S, I. was decreased in both groups according to increment of serum IgE, The higher IgE group(8.64+3,9p) had statistical significance compared to normal control(13.gg+5.55) (p<0.01) but not in low IgE group(9.08:4.11).2) The percentage of E-rosette was decreased in both groups according to increment of serum IgE. The both groups of low IgE(71.08.-6,24) and high IgE(66. 22 6. R7) had statistical significance compared to normal control(77.65+4.39 %) (p 0.01).
beta-Aminoethyl Isothiourea ; Dermatitis, Atopic* ; Humans ; Immunoglobulin E* ; Lymphocyte Activation ; Sheep

No abstract available.
Neurothekeoma* ; Scalp*

No abstract available.
Carcinoma, Renal Cell* ; Caveolin 1*