PURPOSE: Vitamin D dependent rickets (VDDR) is a rare, autosomal recessively transmitted disorder characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type l VDDR arises from primary deficiency in the renal 1alpha-hydroxylase that produces 1,25 (OH)2D3. So patients with type I VDDR require life long administration of vitamin D. METHODS: There had been 6 children (4 boys and 2 girls) who were diagnosed as type I VDDR in the Department of Pediatrics, Seoul National University Children's Hospital from March 1983 to May 1997. The medical records, Clinical findings, laboratory, radiologic findings, and response to therapy of these children were analyzed retrospectively. RESULTS: The median age at diagnosis was 19.5 month, and 2 families (33.3%) had family history of rickets. The major presenting symptoms were bowing leg (100%), short stature (100%), and hypocalcemic tetany (67%). Serum levels of 1,25 (OH)2D3 7.0 3.06pg/mL (normal : 20-76pg/mL), respectively. Pretreatment serum levels of calcium (6.9 1.67mg/mL), phosphate (6.9 1.67mg/mL) and alkaline phosphatase (1892 966.4IU/L) were returned to normal levels after treatment (P<0.01). The height standard deviation scores (Z scores) were increased significantly, also (P<0.01). The side effects detected during vitamin D ttherapy were hypercalcemia (33%), hypercalciuria (67%) and nephrocalcinosis (50%). CONCLUSION: This is the first report of type I VDDR in our country. All patients revealed the characteristic clinical, laboratory and radiologic findings, and one third of patients had positive family history. The treatment improved all the clinical, laboratory and radiologic findings significantly including growth. However, complications developed in some patients during the long- term therapy of vitamin D.
Alkaline Phosphatase ; Calcium ; Child ; Diagnosis ; Humans ; Hypercalcemia ; Hypercalciuria ; Hyperparathyroidism, Secondary ; Hypocalcemia ; Hypophosphatemia ; Leg ; Medical Records ; Nephrocalcinosis ; Pediatrics ; Retrospective Studies ; Rickets* ; Seoul ; Tetany ; Vitamin D* ; Vitamins*

The case of a 44-year-old female with extraskeletal osteosarcoma is reported. She had been treated by low anterior resection and radiation therapy due to rectal cancer (Modified Duke's classification B2) about 35 months ago. Also, she had a history of hematoma formation in a previous incision scar of the low mid-abdomen due to a fall. The patient developed a hard, nontender, fixed mass in the low abdominal wall after the hematoma. Treatment consisted of a wide surgical excision and local advanced flap. To our knowledge, an osteosarcoma of the abdominal wall is very rare, but the outlook for recovery is grave.
Abdominal Wall* ; Adult ; Cicatrix ; Classification ; Female ; Hematoma ; Humans ; Osteosarcoma* ; Rectal Neoplasms*

The case of a 44-year-old female with extraskeletal osteosarcoma is reported. She had been treated by low anterior resection and radiation therapy due to rectal cancer (Modified Duke's classification B2) about 35 months ago. Also, she had a history of hematoma formation in a previous incision scar of the low mid-abdomen due to a fall. The patient developed a hard, nontender, fixed mass in the low abdominal wall after the hematoma. Treatment consisted of a wide surgical excision and local advanced flap. To our knowledge, an osteosarcoma of the abdominal wall is very rare, but the outlook for recovery is grave.
Abdominal Wall* ; Adult ; Cicatrix ; Classification ; Female ; Hematoma ; Humans ; Osteosarcoma* ; Rectal Neoplasms*

Objective: : Gamma Knife radiosurgery (GKRS) is an effective and noninvasive treatment for high-risk arteriovenous malformations (AVMs). Since differences in GKRS outcomes by nidus type are unknown, this study evaluated GKRS feasibility and safety in patients with brain AVMs. Methods: : This single-center retrospective study included patients with AVM who underwent GKRS between 2008 and 2021. Patients were divided into compact- and diffuse-type groups according to nidus characteristics. We excluded patients who performed GKRS and did not follow-up evaluation with magnetic resonance imaging or digital subtraction angiography within 36 months from the study. We used univariate and multivariate analyses to characterize associations of nidus type with obliteration rate and GKRS-related complications. Results: : We enrolled 154 patients (mean age, 32.14±17.17 years; mean post-GKRS follow-up, 52.10±33.67 months) of whom 131 (85.1%) had compact- and 23 (14.9%) diffuse-type nidus AVMs. Of all AVMs, 89 (57.8%) were unruptured, and 65 (42.2%) had ruptured. The mean Spetzler-Martin AVM grades were 2.03±0.95 and 3.39±1.23 for the compact- and diffuse-type groups, respectively (p<0.001). During the follow-up period, AVM-related hemorrhages occurred in four individuals (2.6%), three of whom had compact nidi. Substantial radiation-induced changes and cyst formation were observed in 21 (13.6%) and one patient (0.6%), respectively. The AVM complete obliteration rate was 46.1% across both groups. Post-GKRS complication and complete obliteration rates were not significantly different between nidus types. For diffuse-type nidus AVMs, larger AVM size and volume (p<0.001), lower radiation dose (p<0.001), eloquent area location (p=0.015), and higher Spetzler-Martin grade (p<0.001) were observed. Conclusion : GKRS is a safe and feasible treatment for brain AVMs characterized by both diffuse- and compact-type nidi.

BACKGROUND: As single donor platelets (SDP) has been increasingly used, the quality of SDP, especially apheresis-induced platelet activation, has become a major issue. This study evaluated the activation of SDP platelets prepared with three different cell separators that are currently being used at the Korean Red Cross. METHODS: CD62p, CD63 and CD42 were measured in 35 units of SDP prepared with Amicus (Baxter, Deerfield, IL, USA), MCS+ (Haemonetics, Braintree, MA, USA), or Trima (Gambro BCT, Lakewood, USA) using flow cytometry. RESULTS: Expression of CD62p gradually increased with storage time, but no difference in expression was noted between cell separators. Expression of CD63 also increased with storage time and platelets prepared with the Amicus displayed significantly higher CD63 expression 72 and 120 hours after collection compared to those prepared with MCS+ and Trima. Expression of CD42b tended to decrease with storage time, but this was only significant for Amicus 120 hours after collection. No difference in CD42b expression was noted between cell separators. CONCLUSIONS: Platelet activation increased with storage time, and platelet activation was more pronounced in the platelets prepared with the Amicus. However, because in vitro results of platelet activation does not necessarily reflect in vivo platelet function and survival, additional studies are needed to clarify clinical effectiveness of activated platelets.
Blood Platelets* ; Flow Cytometry ; Humans ; Platelet Activation* ; Plateletpheresis* ; Red Cross ; Tissue Donors

Duane's retraction syndrome is a deficiency in abduction and a defect in abduction movements, with retraction and narrowing of the palpebral fissure of the affected eye. In addition, there are often an upshoot or downshoot of the affected eye on attempted abduction, widening of the palpebral fissure with abduction and mild to marked defect in convergence. But, the clinical picture in Duane's retraction syndrome is extremely variable. Two cases of Duane's retraction syndrome are presented, each of them is Duane's type I and type III, which are affected on left eye. The literatures relating to this syndrome are briefly reviewed.
Duane Retraction Syndrome*

OBJECTIVE: The aim of the study was to investigate the differential expression of Matrix Metalloproteinase (MMP) -2,-9 in the normal and severe preeclamptic placenta. METHODS: Placentas were obtained from women undergoing cesarean section with normal (n=10) and severe preeclamptic (n=10) pregnancies. Semi-quantitative RT-PCR was done to detect the placental gene expression of MMP-2,-9. Western blot analysis was performed to identify MMP-2,-9 protein expression in each placenta. Immunohistochemical staining were employed to localize MMP-2,-9 in placental tissues. RESULTS: MMP-2,-9 genes were expressed in both normal and severe preeclamptic placenta. There were lower expressions MMP-2,-9 in severe preeclamptic placentas than in normal. MMP-2,-9 proteins were all present in each placental tissue. The expression for MMP-2,-9 was weaker in severe preeclamptic placenta than in normal. MMP-2,-9 were localized only to the trophoblast, and were also weakly positive in severe preeclamptic placenta compared with normal. CONCLUSIONS: MMP-2,-9 expressions were decreased in severe preeclampsia placenta compared to those from normal placenta. This study suggests that decreased expression of MMP-2,-9 may have a role in the development of severe preeclampsia.
Blotting, Western ; Cesarean Section ; Female ; Gene Expression ; Humans ; Placenta ; Pre-Eclampsia ; Pregnancy ; Proteins ; Trophoblasts

Homeodomain transcription factors functioning downstream of BMP ventral pathway have been reported to share similar domain of roles in mesoderm patterning along the dorsal-ventral axis. To elucidate the differential role of PV.1 in the aspect of relationship between dorsal and ventral region, we tried to screen PV.1- interacting proteins. Twenty-four PV.1-interacting proteins were identified by yeast two-hybrid screening. Xvent-2 and Xclaudin-6 among these, went under domain study. The C-terminus of PV.1, more specifically 197-241 region was found to interact with Xclaudin-6. Meanwhile Xvent-2 has mild affinity to overall C-terminal region of PV.1. At the same time it was found that Xvent-2 homodimerizes and also binds to Xclaudin-6.
Axis, Cervical Vertebra ; Mass Screening* ; Mesoderm ; Transcription Factors ; Xenopus laevis ; Yeasts

Purpose: Advances in the diagnosis and treatment of prostate cancer have increased the patients’ stress level and decreased the quality of life. A variety of instruments are currently available to evaluate patients with prostate cancer. However, only a few tools are available to assess Korean patients, and therefore we demonstrated a linguistic validation of Korean Expanded Prostate Cancer Index Composite for Clinical Practice (EPIC-CP). Methods: EPIC-CP was translated into Korean and the linguistic validation was evaluated. The evaluation process includes permission for translation, forward translation, reconciliation, backward translation, cognitive debriefing, and proofreading. Two bilingual translators independently translated the original questionnaire, discussed the feasibility and naturalness of initial translation, followed by revision to the reconciled version. Another translator then performed a backward translation into English. Ten patients with prostate cancer completed the translated questionnaire and performed cognitive debriefing. Results: The original EPIC-CP was translated into 2 Korean versions. The different wording in both versions and the ordinary words in the initial translations were changed considering the nuances and meanings of medical terms. During the backward translation, the panels made slight changes to clarify the meaning and nuances of the translated questionnaire. During cognitive debriefing, 10 patients answered the questionnaire and offered their opinions regarding comprehensibility and naturalness. Most patients agreed that the translation was comprehensible in general. Conclusions Our study provides a successful linguistic validation of the EPIC-CP questionnaire. The translation is a helpful diagnostic tool to ensure the quality of life of patients with prostate cancer attending crowded clinics.

OBJECTIVE: We studied relationship between average amount of fish consumption and blood mercury level in pregnant women, in addition we would like to know the blood mercury level in pregnant women in Korea and we compared the initial blood mercury level in pregnant women and followed up how much blood mercury level decreased after counseling and prenatal education. METHODS: Pregnant women who received prenatal care at the Yonsei medical center from March 2004 to September 2004, were targeted. They were divided into two groups. One was the study group who was educated to restrict the intake of fish, the other was the control group who was not given any prenatal education. We measured their blood mercury level and followed up until 2nd and 3rd trimester, to find out the differences between two groups. RESULTS: Out of the 63 pregnant women who participated in our study, we followed up 11 pregnant women in the study group and 13 pregnant women of control group. The initial mean blood mercury level of both groups was 2.94 (0.14-10.75) microgram/L. Blood mercury level in fish eating group of more than 4 times a month was higher than the others, which was statistically significant (p=0.02). Followed up blood mercury levels were increased in both groups, but there was not statistically significant between two groups. CONCLUSION: Pregnant women who consume a large amount of fish may have high blood mercury level. As fish intake seems to influence blood mercury level, to lower their blood mercury level, periconceptional education to decrease fish consumption might be necessary.
Counseling ; Eating ; Education ; Female ; Fishes ; Humans ; Korea ; Pregnancy ; Pregnant Women* ; Prenatal Care ; Prenatal Education