Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna(Madelung deformity). Recent genetic analyses demonstrated that functional haploinsufficiency of SHOX(short stature homeobox-containing gene) accounts for Leri-Weill syndrome. Further studies are needed to explain phenotypic heterogeneity of SHOX defect. We experienced a case of Leri-Weill syndrome in a 11-year-old girl with short stature, who revealed typical Madelung deformity, mesomelic(middle segment) dysplasia, and a karyotype of 46,XX. In cases with dyschondrosteosis or Turner-characteristic dysmorphic skeletal features, detection of SHOX mutation is recommended.
Child ; Congenital Abnormalities ; Female ; Forearm ; Haploinsufficiency ; Humans ; Karyotype ; Leg ; Population Characteristics ; Radius

No abstract available.

PURPOSE: The Purpose of this study was to explain the effects of aromatherapy massage on the preoperative anxiety of hemorrhoidectomy patients, and to provide the effective and holistic nursing care to them. METHOD: The research design was a nonequivalent control group non-synchronized design. The data were collected during the period from November 1 to November 30, 2003 at K-Hospital in Seoul. The subjects were fifty patients who were to have a hemorrhoidectomy under general anesthesia. They were assigned to two groups, 25 subjects to the experimental group and 25 subjects to the control group. The State Anxiety Inventory tool was used to measure state-anxiety on all patients the day before surgery. Systolic and diastolic blood pressure, and pulse rate were measured on the day before surgery and the preoperative period. The experimental group received aromatherapy massage on the hand with lavender oil. Data were analyzed by x2 test, independent t-test, paired t-test. RESULTS: 1. Hypothesis 1, that the level of preoperative state-anxiety of the experimental group who received aromatherapy massage would be lower than that of the control group who did not received aromatherapy was supported(p=.047). 2. Hypothesis 2was that the Physiological index of the preoperative anxiety of the experimental group who received aromatherapy would be lower than that of the control group who did not received aromatherapy. The 1st subhypothesis that "the level of the preoperative systolic and diastolic blood pressure of the experimental group would be less than that of the control group" was not supported. CONCLUSION: Aromatherapy massage can be regarded as a partially effective nursing intervention that relives the preoperative anxiety of surgical patients and stabilizes vital signs.
Anesthesia, General ; Anxiety* ; Aromatherapy* ; Blood Pressure ; Hand* ; Heart Rate ; Hemorrhoidectomy* ; Holistic Nursing ; Humans ; Lavandula ; Massage* ; Nursing ; Preoperative Period ; Research Design ; Seoul ; Vital Signs

PURPOSE: The Purpose of this study was to explain the effects of aromatherapy massage on the preoperative anxiety of hemorrhoidectomy patients, and to provide the effective and holistic nursing care to them. METHOD: The research design was a nonequivalent control group non-synchronized design. The data were collected during the period from November 1 to November 30, 2003 at K-Hospital in Seoul. The subjects were fifty patients who were to have a hemorrhoidectomy under general anesthesia. They were assigned to two groups, 25 subjects to the experimental group and 25 subjects to the control group. The State Anxiety Inventory tool was used to measure state-anxiety on all patients the day before surgery. Systolic and diastolic blood pressure, and pulse rate were measured on the day before surgery and the preoperative period. The experimental group received aromatherapy massage on the hand with lavender oil. Data were analyzed by x2 test, independent t-test, paired t-test. RESULTS: 1. Hypothesis 1, that the level of preoperative state-anxiety of the experimental group who received aromatherapy massage would be lower than that of the control group who did not received aromatherapy was supported(p=.047). 2. Hypothesis 2was that the Physiological index of the preoperative anxiety of the experimental group who received aromatherapy would be lower than that of the control group who did not received aromatherapy. The 1st subhypothesis that "the level of the preoperative systolic and diastolic blood pressure of the experimental group would be less than that of the control group" was not supported. CONCLUSION: Aromatherapy massage can be regarded as a partially effective nursing intervention that relives the preoperative anxiety of surgical patients and stabilizes vital signs.
Anesthesia, General ; Anxiety* ; Aromatherapy* ; Blood Pressure ; Hand* ; Heart Rate ; Hemorrhoidectomy* ; Holistic Nursing ; Humans ; Lavandula ; Massage* ; Nursing ; Preoperative Period ; Research Design ; Seoul ; Vital Signs

PURPOSE: To demonstrate the bystander effect in murine neuroblastoma model which transduced with HSV-TK gene in vitro and in vivo. METHODS: The LNC/TK vector was transfered in vitro into the neuro-2a cells, murine neuroblastoma cell line. Variable mixed populations of neuro-2a cells consisting of HSV-TK+ or HSV-TK- were plated into culture plates and treated with GCV for another 4 days. Surviving cells were counted and cell viability was determinated. For investigating the in vivo bystander effect, variable mixed populations of neuro-2a cells consisting of HSV-TK+ and HSV-TK- were inoculated into A/J mice. The tumor size was measured following injection of GCV for 7 days. RESULTS: The survival rate of the 100% neuro-2a/TK group was 90%, 25%, 5% and 0%, of 50% neuro-2a/TK group was 92%, 30%, 10% and 0%, and of the 10% neuro-2a/TK group was 95%, 40%, 15% and 5%. But, the survival rate of 0% neuro-2a/TK group was 120%, 150%, 180% and 220% on days 1, 2, 3, and 4 respectively. In the 100% and 50% neuro-2a/TK groups, tumor had disappeared following administration of GCV and in 10% neuro-2a/TK group, tumor size was not increased during GCV treatment. In 0% neuro-2a/TK group, tumor size increased during administration of GCV and all mice died after 6 weeks. CONCLUSIONS: We demonstrated the bystander effect in a murine neuroblastoma model which transduced with HSV-TK gene in vitro and in vivo. These results suggest that HSV-TK/GCV gene therapy may be useful for treatment of neuroblastoma.
Animals ; Bystander Effect* ; Cell Line ; Cell Survival ; Genetic Therapy* ; Mice ; Neuroblastoma* ; Survival Rate

We managed three cases of anesthesia for living related liver transplantation from December 1994 to July 1995. Donors were recipient's parents and two of them were 35-year old man, the other was 25-year-old woman. The recipients were suffered from congenital liver diseases (two of them were diagnosed as biliary atresia and the other Byler's disease). They had presented severe jaundice and cholangitis and their mean age & body weight were 15 +/- 4.9 months and 8.6 +/- 1.22 kg, respectively. Average duration of anesthesia was about 15 hours, and anhepatic time was 140 minutes, 80 m inutes and 50 minutes, respectively. Careful attention was paid to body temperature, serum potassium, ionized calcium, blood coagulation function, as well as to general condition and respiratory function. Hemodynamic value was relatively stable through out the operation and postoperative mechanical ventilatory support was required for about 3 days.
Adult ; Anesthesia ; Biliary Atresia ; Blood Coagulation ; Body Temperature ; Body Weight ; Calcium ; Child* ; Cholangitis ; Female ; Hemodynamics ; Humans ; Jaundice ; Liver Diseases ; Liver Transplantation* ; Liver* ; Parents ; Potassium ; Tissue Donors*

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT (5.6 cmx5.0 cmx7.6 cm) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.
Brain ; Brain Neoplasms* ; Central Nervous System ; Child ; Genes, Tumor Suppressor ; Humans ; Infant* ; Magnetic Resonance Imaging ; Male ; Microarray Analysis ; Muscle Hypotonia ; Phenotype ; Rhabdoid Tumor ; Ring Chromosomes*

No abstract available.
Female ; Pregnancy ; Pregnancy, Ectopic*

Intrathecal administration of methotrexate(IT-MTX) has constituted the standard approach to prophylaxis and treatment of central nevous system(CNS) leukemia. We experienced a quadriplegia and motor aphasia in a 14-year-old boy following repeated IT-MTX for the prophylaxis of meningeal leukemia. He was diagnosed as ALL without CNS involvement and treated by CCG- 1882 protocol. IT-MTX was administered for CNS prophylaxis. The patient began complaining of urinary incontinence, motor aphasia and weakness in his right leg from 12 days after the 5th dose of the IT-MTX therapy. Even though the IT-MTX was discontinued, loss of muscle power progressed upward resulting in quadriplegia. The patient showed slow and partial recovery on right extremities over 3 months. We report this case with brief review of literature.
Adolescent ; Aphasia, Broca* ; Extremities ; Humans ; Leg ; Leukemia ; Male ; Methotrexate* ; Quadriplegia* ; Urinary Incontinence

To investigate the NS4 region of JEV, NS4 cDNA of K94P05 (JEV strain isolated from Korea in 1994) was amplified by RT-PCR and analyzed by sequencing PCR product. Genomic size of NS4 was 1212bp and nucleotide sequence was compared with that of other JEV strains. Nucleotide homology between JaOAr582 and K94P05 was 91.1% and that between Beijing and K94P05 was 89.8%, respectively. But the nucleotide sequence of I region of JaOAr582 and K94P05 showed 97.0% homology and that of Beijing and K94P05 did 95.8% homology. NS4 protein was expressed as a form of fusion protein by a prokaryotic expression system. The induced fusion product showed a lower molecular weight than predicted size and remained insoluble. The NS4 protein might be cleavages by E. coli protease. Concluding above results, high hydrophobicity of the NS4 protein supported the fact that this protein played a role as a membrane component and the poor nucleotide sequence conservativity among JEV strains suggested that this region might be important to adapt each viral growth environment.
Asian Continental Ancestry Group* ; Base Sequence ; DNA, Complementary ; Encephalitis Virus, Japanese* ; Encephalitis, Japanese* ; Humans ; Hydrophobic and Hydrophilic Interactions ; Korea* ; Membranes ; Molecular Weight ; Polymerase Chain Reaction