Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is located on the short arm of chromosome 4. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We confirmed by detection of a R248C mutation in the FGFR3 gene in DNA analysis.
Arm ; Chromosomes, Human, Pair 4 ; DNA ; Dwarfism ; Extremities ; Femur ; Forehead ; Head ; Macrocephaly ; Molecular Biology ; Receptor, Fibroblast Growth Factor, Type 3 ; Thanatophoric Dysplasia ; Thorax

PURPOSE: The aim of this study was to identify clinical availability of serum procalcitonin (PCT) compared with C-reactive protein (CRP) in prediction of bacterial infection in children. METHODS: A retrospective study was conducted with children who had been admitted to the Department of Pediatrics with bacterial and viral infection between April 2008 and March 2009 and children who were admitted with Juvenile rheumatoid arthritis (JRA) between August 2007 and July 2009. Serum PCT levels were measured using an enzyme-linked fluorescent assay. RESULTS: The study population included 10 patients with bacterial infection (group I), 69 with viral infection (group II), and 35 with JRA (group III). Mean PCT levels were significantly higher in group I than in group II or group III (P<0.05). Mean CRP levels were significantly higher in group I than in group II (P<0.05); however, mean CRP levels were not significantly higher in group I than in group III (P>0.05). Using a cutoff of 0.5 ng/mL for PCT and 8 mg/L for CRP, sensitivity and specificity in distinguishing between group I and the other groups were 60.0% and 92.3% for PCT and 60.0% and 40.1% for CRP, respectively. Positive and negative predictive values were 42.9% and 96.0% for PCT and 10.0% and 92.6% for CRP, respectively. CONCLUSION: Measurement of PCT concentrations appears to be more useful than CRP for distinguishing between bacterial infection and non-bacterial diseases in children.
Arthritis, Juvenile Rheumatoid ; Bacterial Infections ; C-Reactive Protein ; Calcitonin ; Child ; Humans ; Pediatrics ; Protein Precursors ; Retrospective Studies ; Sensitivity and Specificity

No abstract available.
Humans ; Neoplasm Metastasis* ; Stomach Neoplasms* ; Stomach* ; Technetium Tc 99m Medronate*

Ascariasis is an intestinal disease caused by Ascaris lumbricoides. Most patients with ascariasis are asymptomatic; however, the presence of many larvae in the bowel can cause gastrointestinal complications, such as intestinal obstruction, obstructive jaundice, cholangitis, cholecystitis, and pancreatitis. Herein, we report a case of ascariasis presenting as hematoma and active bleeding in the sigmoid mesocolon of a 74-year-old man on computed tomography (CT). Sigmoid colon perforation was also detected on follow-up CT. Laparoscopic low anterior resection was performed; there was a large hematoma in the sigmoid mesocolon. Roundworms were microscopically identified in the mesenteric adipose tissue. The clinical and CT findings of this unusual presentation of ascariasis revealed serial complications during parasite migration from the intestinal lumen to the peritoneal cavity.

Ascariasis is an intestinal disease caused by Ascaris lumbricoides. Most patients with ascariasis are asymptomatic; however, the presence of many larvae in the bowel can cause gastrointestinal complications, such as intestinal obstruction, obstructive jaundice, cholangitis, cholecystitis, and pancreatitis. Herein, we report a case of ascariasis presenting as hematoma and active bleeding in the sigmoid mesocolon of a 74-year-old man on computed tomography (CT). Sigmoid colon perforation was also detected on follow-up CT. Laparoscopic low anterior resection was performed; there was a large hematoma in the sigmoid mesocolon. Roundworms were microscopically identified in the mesenteric adipose tissue. The clinical and CT findings of this unusual presentation of ascariasis revealed serial complications during parasite migration from the intestinal lumen to the peritoneal cavity.

This is a retrospecitve analysis of 54 patients with stage I or II Non-odgkin's lymphoma involving the head and neck region treated with curative radiotherapy in the Department of Therapeutic Radiology, Seoul National University Hospital during the period of February 1979 through September 1982. The minimum follow-p period was 24 months. The review of histologic slides was available in 36 cases. Waldeyer's ring was the most common extranodal sites (46%). 41% of patients were in the stage I and 59% in the stage II by Ann Arbor classification. Of the 44 patients who responded after radiotherapy, 24 patients (54.5%) subsequently relapsed. Regional recurrence rate was 29%, distant metastasis was 54% and simultaneous regional recurrence and distant metastasis was 17%. The survival rate and disease free survival at 2 years were 57% and 45% respectively. Those patients with a large primary lesion (over 6cm in diameter), multiple conglomerated. extranodal site and diffuse cell type, experienced a high rate of distant metastasis. Therefore it seems desirable to study the use of adjuvant chemotherapy in those patients with a high probability of distant metastasis.
Chemotherapy, Adjuvant ; Classification ; Disease-Free Survival ; Head* ; Humans ; Lymphoma* ; Neck ; Neoplasm Metastasis ; Radiation Oncology ; Radiotherapy* ; Recurrence ; Seoul ; Survival Rate

PURPOSE: For malignant diseases, predictions about tumor behavior and determination of appropriate therapy are based on the primary tumor sites, but 2-9% of cancer patients are diagnosed without identifiable primary tumor sites. Metastatic tumors of unknown primary origin (MUO) are a heterogeneous group of tumors with variable natural histories. The majority of these patients fall outside of treatable subjects and seldom respond to therapy. To define further the natural history of MUO and identify prognostic factors, we undertook a clinical analysis of 141 consecutive patients with a presumed diagnosis of MUO. MATERIALS AND METHODS: One hundred forty-one patients were diagnosed with unknown primary tumor from Jan. 1, 1992 through Aug. 31, 1995. The primary end point for the study was survival, which was calculated from the first day of patient registration diagnosed histologically. The survival curves were estimated using the Kaplan-Meier method and compared using the log-rank test. To identify important prognostic factors, univariate and multivariate analyses were conducted. RESULTS: Most of the 141 patients had histologic or cytologic evidence of adenocarcinoma and had more than one site metastatically involved. The predominant sites of tumor involvement were lymph node, peritoneum, bone, liver, lung, and pleura. Univariate and multivariate analyses identified numerous important prognostic factors with a significant influence on survival, including performance status (P 0.0001), specific organ sites involved (lung P 0.0076 or liver P 0.0310), and chemotherapy group (P- 0.0480). CONCLUSION: This study validated clinical courses and important prognostic factors that had an impact on survival in MUO.
Adenocarcinoma ; Diagnosis ; Drug Therapy ; Humans ; Liver ; Lung ; Lymph Nodes ; Multivariate Analysis ; Natural History ; Neoplasms, Unknown Primary ; Peritoneum ; Pleura

PURPOSE: To establish the feasibility of high dose ifosfamide, carboplatin, and etoposide (ICE) chemotherapy followed by autologous stem cell transplantation (ASCT) in patients with high-risk or metastatic breast cancer. MATERIALS AND METHODS: High-risk breast cancer is defined as 10 or more involved axillary lymph nodes (n=3) or stage III (n=2). Patients with metastatic cancer have relapsed diseases after curative resection (n=10) or initially metastatic lesion (n=1). Colony stimulating factor with either cyclophosphamide or combination chemotherapy was administered to mobilize the stem cells. High dose chemotherapy consisted of ifosfamide 16 g/m2, carboplatin 1.8 g/m2, and etoposide 0.75 g/m2 (dose I) and later modified to ifosfamide 12 g/m2, carboplatin 1.35 g/m2, and etoposide 1.2 g/m2 (dose II). RESULTS: The median duration of grunulocyte nadir (<500/ microliter) was 11 (10~17) days and platelet transfusion dependency (<20,000/ microliter) was 11 (7~53) days in 14 patients who achieved engraftment. One out of 5 patients with high-risk breast cancer relapsed after high dose therapy. Two patients remain disease-free at 18th and 40th months. Two among the 4 patients treated with dose I died due to treatment-related complications. The responses of metastatic diseases to ICE chemotherapy were 1 continuing CR, 1 CR, 1 PR, 4 SD and 3 PD in 10 evaluable patients. CONCLUSION: High dose ICE chemotherapy, especially dose II and ASCT were feasible in high-risk or metastatic breast cancer.
Breast Neoplasms* ; Breast* ; Carboplatin* ; Colony-Stimulating Factors ; Cyclophosphamide ; Drug Therapy* ; Drug Therapy, Combination ; Etoposide* ; Humans ; Ice ; Ifosfamide* ; Lymph Nodes ; Platelet Transfusion ; Stem Cell Transplantation* ; Stem Cells*