No abstract available.
Solvents*

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.
Autistic Disorder ; Blotting, Southern ; Diagnosis ; Ear ; Electroencephalography* ; Fragile X Syndrome* ; Head ; Hospitals, General ; Humans ; Intellectual Disability ; Learning Disorders ; Male ; Pathology, Molecular ; Phenotype ; Polymerase Chain Reaction ; Retrospective Studies ; Seizures ; Sensitivity and Specificity

No abstract available.
Preimplantation Diagnosis*

OBJECTIVE: Recently, microdissection of tissue sections has been used increasingly for the isolation of morphologically identified homogeneous cell populations, thus overcoming the obstacle of tissue complexity for the analysis cell-specific expression of macromolecules. The aim of the present study was to establish the minimal conditions required for the RNA extraction and amplification from the cells captured by the laser captured microdissection. METHODS: Mouse ovaries were fixed and cut into serial sections (7 micrometer thickness). Oocytes were captured by laser captured microdissection (LCM) method by using PixCell IITM system. The frozen sections were fixed in 70% ethanol and stained with hematoxylin and eosin, while the paraffin sections were stained with Multiple stain. Sections were dehydrated in graded alcohols followed by xylene and air-dried for 20 min prior to LCM. All reactions were performed in ribonuclease free solutions to prevent RNA degradation. After LCM, total RNA extraction from the captured oocytes was performed using the guanidinium isothiocyanate (GITC) solution, and subsequently evaluated by reverse transcriptase -polymerase chain reaction (RT-PCR) for glyceraldehyde-3-phosphate-dehydrogenase (GAPDH). RESULTS: With the frozen sections, detection of the GAPDH mRNA expression in the number of captured 25 oocytes were not repeatable, but the expression was always detectable from 50 oocytes. With 25 oocytes, at least 27 PCR cycles were required, whereas with 50 oocytes, 21 cycles were enough to detect GAPDH expression. Amount of the primary cDNA required for RT-PCR was reduced down to at least 0.25 microl with 50 oocytes, thus the resting 19.75 microl cDNA can be used for the testing other interested gene expression. Tissue-to-slide, tissue-to-tissue forces were very high in the paraffin sections, thus the greater number of cell procurement was required than the frozen sections. CONCLUSION: We have described a method for analyzing gene expression at the RNA level with the homogeneously microdissected cells from the small amount of tissues with complexity. We found that LCM coupled with RT-PCR could detect housekeeping gene expression in 50 oocytes captured. This technique can be easily applied for the study of gene expression with the small amount of tissues.
Alcohols ; Animals ; DNA, Complementary ; Eosine Yellowish-(YS) ; Ethanol ; Female ; Frozen Sections ; Gene Expression* ; Genes, Essential ; Guanidine ; Hematoxylin ; Mice ; Microdissection* ; Oocytes* ; Ovary ; Paraffin ; Polymerase Chain Reaction ; Ribonucleases ; RNA Stability ; RNA* ; RNA, Messenger ; RNA-Directed DNA Polymerase ; Xylenes

No abstract available.
Kasabach-Merritt Syndrome*

No abstract available.

No abstract available.
Stevens-Johnson Syndrome*

PURPOSE: To compare the difference of state anxiety, perceived support, and childbirth experience perception, between the primiparous's husband who participated in actual labor and delivery process with her wife after finishing Lamaze childbirth class education and the husband who did not finished Lamaze childbirth class, for providing the basic data for effective nursing intervention and pre-childbirth educational program development for husbands. METHOD: At one general hospital located in Kyunggi-do and one clinic in Seoul, from April 6th to May 12th, 2003, the subjects were 146 including 67 primipara's husbands who participated in the 5-week Lamaze educational program and 79 primipara's husbands who didn't, using structuralized questionnaire. Analysis: Mean, frequency, percentage, chi2-test, and t-test were used by SPSS 10.0 program. RESULT: The sub-hypothesis 1, 'there are significant differences between anxiety of the group who participated in Lamaze and who didn't' was not accepted (t=-1.043, p=.299). The sub-hypothesis 2, 'there are significant differences between anxiety by cervical dilatation the group who participated in Lamaze program and who didn't' was not accepted (t=-1.123, P=.263, t=-.356, P=.722, t=-1.879, P=.062). The hypothesis 3, 'there are significant differences between perceived support of the group who participated in Lamaze program and who didn't' was accepted (t=4.860, P=.000). Especially, the obstetrical support of the group who participated in Lamaze program, which could reduce delivering pain, was higher. The hypothesis 4, 'there are significant differences between the perception of childbirth-labor experience of the group who participated in Lamaze program and who didn't' was accepted (t=2.816, P=.006). CONCLUSION: The Lamaze program was a effective nursing intervention for husband's affirmative perception of childbirth-labor experience as well as husband's role as active supporters during labor process. The change of present woman-centered pre-childbirth education into both partner-centered education stressing on husband's needs, viewpoint and role as a supporter should be considered. Therefore, hospital administrators should pay more attention on enhancing the opportunities of husband for pre-birth education and participating in the process of labor as a family-centered nursing intervention.
Anxiety* ; Education ; Family Nursing ; Female ; Gyeonggi-do ; Hospital Administrators ; Hospitals, General ; Humans ; Labor Stage, First ; Nursing ; Parturition* ; Pregnancy ; Program Development ; Surveys and Questionnaires ; Seoul ; Spouses

OBJECTIVE: To report the pregnancy which was made by in vitro fertilization using recombinant follicle stimulating hormone and gonadotropin releasing hormone antagonist. MATERIAL AND METHOD: Case report. RESULTS: Six oocytes were retrieved and all were fertilized by intracytoplasmic sperm injection. Six embryos were transferred and the pregnancy was confirmed. CONCLUSION: It is envisaged that the availability of recombinant gonadotropins and gonadotropin releasing hormone antagonists will ultimately lead to shorter, cheaper and safer treatments, using reduced dosages.
Pregnancy ; Female ; Humans

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.
Artifacts ; Blotting, Southern* ; Chromosomes, Human, X ; Diagnosis* ; DNA ; DNA, Complementary ; Dystrophin ; Exons ; Genetic Loci ; Humans ; Multiplex Polymerase Chain Reaction* ; Muscular Dystrophy, Duchenne ; Polymerase Chain Reaction ; Sequence Deletion