A Case of Malignant Gastric Stromal Tumor / 대한소아혈액종양학회지

As leiomyosarcomas of smooth muscle origin are rare tumors found in adults, they are even more uncommon among children. Therefore, most of the existing literatures concerning pediatric leiomyosarcomas has been limited to case reports. More recently, ultrastructural and immunohistochemical studies revealed that some tumors may have properties more suggestive of nerve cells or vascular endothelial cells, rendering the gastrointestinal stromal tumor a more popular term. We experienced a 13 year old boy who was diagnosed and treated as iron deficiency anemia. Even after iron therapy, he had persistent anemia and endoscopic examination revealed a huge mass in the gastric cardia. Proximal gastrectomy was performed with margins free of tumor. The tumor cells showed high mitotic activity suggesting malignant nature. The immunohistochemical staining was positive for smooth muscle actin while negative for S-100 protein. Brief review of the literatures are presented.

Sulfidoleukotrienes Production in Blood Leukocytes Stimulated by Mite Allergen / 소아알레르기및호흡기학회지

PURPOSE: Although asthma is the most common chronic disease in childhood, accurate diagnosis in infants and young children remains challenging clinicians. Allergen challenging tests in vitro have been used productively as an investigative tool in studies of the pathophysiology and diagnosis of asthma. Therefore, we compared the sulfidoleukotrien (sLT) concentration according to allergen leukocyte stimulation test, in normal versus asthmatic patients, to find better diagnostic tools. METHODS: From May through August, 1998, nine children were enrolled who presented positive skin reaction in Dermatophagoides pteronyssinus (D.p.), Dermatophagoides farinae (D.f.) as patient groups. We measured total eosinophil count, serum IgE, sLT concentration of three different allergen stimulation (100 ng/ml, 10 ng/ml, 1 ng/ml). RESULTS: sLT concentration in three different D.p., D.f. stimulation showed significant differences (P<0.01). Allergen concentration of 10 ng/ml was fit for stimulating peripheral leukocyte. The sLT concentration is correlated with IgE, total eosinophil count, but not with age. Actual concentrations of sLT was not measured in allergen stimulation test. Its interpretation of test results was complicated by the fact that several variants were involved in determining sampling time and appropriate sampling volume. Most importantly, the diagnostic sensitivity of the sLT concentration tests varies directly with the magnitude of IgE antibody and total eosinophil count. CONCLUSION: We emphasizes the role of allergen challenge in understanding the pathophysiology of young children asthma. It focuses on more accurate diagnosis with objective techniques for analyzing the leukocyte sLT release to antigen.

Diagnosis of Fragile X Syndrome and DMD by using DIG System / 대한산부인과학회잡지

The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy (DMD). Southern blot analysis is accurate test showing expression of the (CGG)n repeat and abnormal methylation pattern of CpG island in hagile X syndrome, and good confirmative secondary test in case of deletion in DMD. But in terms of test rapidity, these conventional radioactive Southern analysis may not be feasible for rapid screening of prenatal samples and at-risk populations to determine their status and to provide genetic counseling to their families. As an alternative radioactive Southern blotting, DIG DNA labeling and detection system does not require handling of radioactive material nor require learning any new technology. The complete procedure of labeling the DNA and hybridization to detection of the first visible signal can be compbsbed witbin 7 days. In addition, hybridization solutions containing labeled DNA can be reused several times after renewed denaturation.

Preimplantation Genetic Diagnosis / 대한산부인과학회잡지

No abstract available.

Fragile X Syndrome : Clinical Characteristics and EEG Findings

PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent reports have focused attention on the EEG finding of this syndrome, which is a particular paroxysmal pattern during sleep (mono or diphasic centrotemporal spikes) and awake state (background slowing). In this study, we analyzed the clinical characteristics of fragile X syndrome patients and observed whether a particular EEG pattern is associated with this syndrome or not. METHODS: 7 cases of fragile X syndrome, diagnosed at Sowha Children's Hospital and Cha General Hospital from August 1993 to February 1995, were analyzed retrospectively in terms of typical phenotypes and clinical & EEG characteristics. The patients were diagnosed by Southern blotting and polymerase chain reaction (PCR) method. RESULTS: 1) The subjects were all male and the mean age was 5.8 years old (2Y-11Y). 2) Typical phenotype of long elongated face, macro-orchidism, large ears, and large head are noted in 2/3 of the subject. 3) Developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism are noted in 2/3 of the subject. 4) Seizure is noted in one case and EEG was performed in 6 cases, regardless of the presence of seizures. Abnormal findings including centrotemporal sharps and background slowing are noted in one case, each. 5) By molecular diagnostic methods including Southern blotting and PCR, 3 cases of affected male and 4 of normal transmitting male were diagnosed. CONCLUSIONS: 1) The typical phenotype of fragile X syndrome is long elongated face, macro-orchidism, large ears and large head. 2) The non-physical characteristics of fragile X syndrome are developmental delay, mental retardation, learning disability, attention deficit, hyperactivity, and autism. 3) The characteristic EEG findings of fragile X syndrome known by literature are noted in 2 among 6 cases, which means the specificity is high even though the sensitivity is low. This allows us to propose this EEG pattern as an important "marker" in the diagnosis of fragile X syndrome. However, the number of the subject is too small to conclude now. Further accumulation of cases is reguired.

Food and house dust mite allergens in children with atopic dermatitis / 알레르기

Although basic mechanisms of atopic dermatitis remain largely speculative, many studies on pathogenesis suggest the importance of food and inhalent allergens. To evaluate the frequency of food and house dust mite hypersensitivity and differences in this frequency according to ages, we measured the levels of specific IgE antibodies to egg white, egg yolk, milk, soy, and house dust mites in 119 children with atopic dermatitis. The results showed that 53% of patients had positive RAST to any one kind of allergens. The frequency of food and house dust mite hypersensitivity were 34.5%, 30.3 %, respectively. Among allergens, house dust mites and egg white are the most prevalent allergens in all atopic dermatitis patients. The Prevalence of egg white is most common under the age of 2 years, but those of house dust mites are the dust mites are the highest in the ages of 5-12 years. In conclusion, we recommend an egg restriction diet in atopic dermatitis patients who are less than 2 years old when their symptoms do not improve with general skin care.

Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis / 대한산부인과학회잡지

Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in thedystrophin gene, and enormous genetic locus that spans more than two million base paris ofDNA on the human X chromosome. Some 60% of DMD patients exhibit deletions, which canbe found by cDNA hybridization or, were recently, by polymerase chain reaction analysis.We have used the multiplex PCR to identify deletion mutations in the human dystrophingene. By simultaneously amplifying genomic regions flanking 17 sepastrate exons inmutational hot spots, we were able to detect 16 exons in one family. The DNA encoding eachof the 17 exons in the dystrophin gene is copied a million fold to make it visible in anagarose gel. To be certain that the missing band is not artifact of the amplificationprocedure, the DNA from the blood sample was analyzed by Southern hybridization.

Comparison of Maternal Serum Screening Test Efficacy for Down Syndrome / 대한산부인과학회잡지

Maternal serum alpha-feto protein(MSAFP) screening test has provided high sensitivity and specificity in detecting neural tube defects(NTD). Approximately 80~90% of NTD can be identified by this screening test.Prospective studies have shown that low levels of MSAFP can be used for Down syndrome screening test, but the detection rate for Down syndrome in combination with age is only 20% in younger women, making this screening test relatively insensitive. However recently some studies have suggested that the triple marker test with MSAFP, unconjugated estriol, beta-human chorionic gonadotropin achieved higher detection rate for Down syndrome. The purpose of present study is to compare the positive predictive values of both MSAFP and Triple test. We had 6,436 cases of MSAFP test during the year of 1994 and 7,077 cases for triple test during the year of 1995. We analyzed data with positive results by screening both tests, since our purpose is to compare positive value. The number of positive results were 290(triple test) and 206(AFP) respectively. With this study, we concluded that positive predictive value of triple marker test is 4.17 times greater than of the MSAP test.

Comparison of Maternal Serum Screening Test Efficacy for Down Syndrome / 대한산부인과학회잡지

Maternal serum alpha-feto protein(MSAFP) screening test has provided high sensitivity and specificity in detecting neural tube defects(NTD). Approximately 80~90% of NTD can be identified by this screening test.Prospective studies have shown that low levels of MSAFP can be used for Down syndrome screening test, but the detection rate for Down syndrome in combination with age is only 20% in younger women, making this screening test relatively insensitive. However recently some studies have suggested that the triple marker test with MSAFP, unconjugated estriol, beta-human chorionic gonadotropin achieved higher detection rate for Down syndrome. The purpose of present study is to compare the positive predictive values of both MSAFP and Triple test. We had 6,436 cases of MSAFP test during the year of 1994 and 7,077 cases for triple test during the year of 1995. We analyzed data with positive results by screening both tests, since our purpose is to compare positive value. The number of positive results were 290(triple test) and 206(AFP) respectively. With this study, we concluded that positive predictive value of triple marker test is 4.17 times greater than of the MSAP test.

Effect of adenosine on the release of (3H)-5-hydroxytryptamine during glucose/oxygen deprivation from rat hippocampal slices

The effects of adenosine, adenosine A1 receptor antagonist (DPCPX), or NMDA receptor antagonist (APV) on the spontaneous release of (3H)-5-hydroxytryptamine ((3H)-5-HT) during normoxic/normoglycemic or hypoxic/hypoglycemic period were studied in the rat hippocampal slices. The hippocampus was obtained from the rat brain and sliced 400 mum thickness with the tissue slicer. After 30 min's preincubation in the normal buffer, the slices were incubated for 30 min in a buffer containing (3H)-5-HT (0.1 muM, 74 muCi/8 ml) for uptake, and washed. To measure the release of (3H)-5-HT into the buffer, the incubation medium was drained off and refilled every ten minutes through sequence of 14 tubes. Induction of glucose/oxygen deprivation (GOD; medium depleting glucose and gassed with 95% N2/5% CO2) was done in 6th and 7th tube. The radioactivities in each buffer and the tissue were counted using liquid scintillation counter and the results were expressed as a percentage of the total radioactivities. When slices were exposed to GOD for 20 mins, the spontaneous release of (3H)-5-HT was markedly increased and this increase of (3H)-5-HT release was blocked by adenosine (10 muM) or DL-2-amino-5-phosphonovaleric acid (APV; 30 muM). Adenosine A1 receptor specific antagonist, 8-cyclopentyl-1,3-dipropylxanthine (DPCPX) exacerbate GOD-induced increase of spontaneous release of (3H)-5-HT. These results suggest that Adenosine may play a role in the GOD-induced spontaneous release of (3H)-5-HT through adenosine A1 receptor activity.