OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of FMR1 CGG repeat in the general Korean women and to identify ethnic difference in FMR1 CGG repeat number. Material and METHOD: Between January 1999 and December 1999, we evaluated 1,000 low risk women who visited Gachon Medical School Hospital. DNA samples were extracted from the venous bloods by routine methods, and G-C specific Polymerase Chain Reaction (PCR)s were performed to evaluate FMR1 CGG repeat number. RESULTS: Mean FMR1 CGG repeat number was 26.9 (6-50), single PCR bands were detected in 776 cases (77.7%). There were two more bands in 22.3% of the cases. Most of the cases are located between 21 and 35 repeats, especially 21-25 repeats. The pattern of distribution of CGG repeat is dispersed. In 13 cases, we could not obtain the PCR results. CONCLUSION: Low risk of transmission rate of the FRX in Korea can be expected.
Alleles* ; Blotting, Southern ; DNA ; Female ; Fragile X Syndrome ; Humans ; Intellectual Disability ; Korea ; Polymerase Chain Reaction ; Schools, Medical

PURPOSE: To characterize the MR findings of nontumorous focal low attenuated areas around the falciformligament on contrast enhanced CT scan. MATERIALS AND METHODS: MR was used to study twelve patients who oncontrast-enhanced CT scan showed focal low attenuated areas around the falciform ligament. Imaging was carried outwith T1, FSE-T2, fat-suppressed T1, and fat-suppressed FSE T2-weighted pulse sequences at 1.5 T. Dynamic fastlow-angle shot(FLASH) imaging was performed in seven patients and chemical shift images were obtained in five. The findings on contrast enhanced CT scan were compared with those on MR. RESULTS: In five cases, the lesions were slightly hyperintense on T1 and FSE T2-weighted images, hypointense on fat-suppressed images, hyperintense on in-phase image, and presented a considerably diminished signal intensity on opposed-image. Focal hypointensity areas were visualized at 50-75 sec after contrast enhancement in three cases in which a lesion was not depicted oneither T1-or FSE T2-weighted images. CONCLUSION: Nontumorous focal low attenuated areas around the falciformligament were shown on MR imaging as focal fatty infiltrations or pseudolesions.
Humans ; Ligaments* ; Magnetic Resonance Imaging ; Tomography, X-Ray Computed

Cytogenetic analysis of 4 cases of meningiomas from 3 male and 1 female patients is reported. One of male patients suffered from neurofibromatosis type 2. Histologically, the meningiomas were meningotheliomatous (1), transitional (2), and psammomatous (1). Chromosomal abnormalities were found in all cases with a karyotype 45,XY,-22, 45,XY,-16, 45,XX,-2, and 45,XY,t (15p;22q), respectively. Monosomy of chromosome 22 was detected only in the patient with neurofibromatosis type 2. These cytogenetic analysis demonstrates that variable clonal karyotype aberrations exist in meningiomas.
Adolescent ; Adult ; *Chromosome Aberrations ; Female ; Humans ; Male ; Meningeal Neoplasms/*genetics ; Meningioma/*genetics ; Neurofibromatosis 2/genetics

Acalculous cholecystitis is an inflammation of the gallbladder in the absence of gallstones. Diagnosing this condition is often difficult because of the patient's debilitated medical condition and because of the limitation of biliary imaging technique. Nonetheless, its recognition and therapy are critically important, for if left untreated, many patients will die. During 10 years and 6 months from January 1986 to June 1996, 52 patients underwent assessment and treatment for acalculous cholecystitis at the Department of Surgery, Kyungpook National University Hospital. A clinical analysis of those patients was done and the following results were obtained: The incidence rate was 3.5%. The most prevalent age group was the seventh decade (13cases), and the male-to-female ratio was 1.4 : 1. Possible etiologic factors were found in 25 cases (48.1%). These factors were surgery in 5 cases (9.6%), trauma in 5 cases (9.6%), sepsis in 5 cases (9.6%), clonorchiasis in 5 cases (9.6%), and others in 5 cases(9.6%). Neither Ascariasis nor Salmonellosis was found as a predisposing factor in this study.The main cardinal symptoms and physical signs were similar to those of calculous cholecystitis. The sensitivities of diagnostic imaging by ultrasonography and computed tomography were 88.4% and 100%, respectively. Of the 52 patients, 46 cases underwent cholecystectomy, and 6 cases were initially treated by percutaneous transhepatic cholecystostomy. Of these 6 cases, two patients had cholecystostomies during subsequent abdominal operations for other conditions. Two patients had the cholecystostomy tube removed 2 months after an uneventful recovery and have had no further biliary problems. The other two patients died. The operative findings were cholecystitis only in 26 cases (56.5%), cholecystitis with localized peritonitis in 18 cases (39.1%), and cholecystitis with generalized peritonitis in 2 cases (4.3%). Postoperative complications occurred in 16 cases (34.8%), and wound infection was the most common complication (62.5% of all complications).The overall mortality was 9.6%. Conclusively, acalculous cholecystitis had high morbidity and mortality in this study. Once the diagnosis of acalculous cholecystitis is made, the gallbladder should be drained or removed. A decision as to the best approach depends on the specific situation and will require close cooperation between the internist, the surgeon, and the radiologist.
Acalculous Cholecystitis* ; Ascariasis ; Causality ; Cholecystectomy ; Cholecystitis ; Cholecystostomy ; Clonorchiasis ; Diagnosis ; Diagnostic Imaging ; Gallbladder ; Gallstones ; Gyeongsangbuk-do ; Humans ; Incidence ; Inflammation ; Mortality ; Peritonitis ; Postoperative Complications ; Salmonella Infections ; Sepsis ; Ultrasonography ; Wound Infection

On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves the glycerol kinase gene deletion together with the adrenal hypoplasia congenita and/or Duchenne muscular dystrophy gene. The clinical features of a patient with a Xp21 contiguous gene deletion syndrome are sum of each disease,psychomotor retardation and lethargy for glycerol kinase deficiency, hyperpigmentation and salt wasting dehydration for congenital adrenal hypoplasia and muscular weakness and hypotonia for Duchenne muscular dystrophy. We experienced and reviewed two cases of Xp21 contiguous gene deletion syndrome with literatures.
Dehydration ; Gene Deletion* ; Glycerol Kinase ; Humans ; Hyperpigmentation ; Lethargy ; Muscle Hypotonia ; Muscle Weakness ; Muscular Dystrophy, Duchenne

BACKGROUND: The fragile X syndrome is the most common cause of inherited mental retardation, is almost always caused by abnormal CGG trinucleotide amplication within the FMR1(fragile X mental retardation) gene located in Xq27.3 METHODS: DNA samples were obtained from the amniotic fluids of known carrier mother and 35 mothers without risk factors of the fragile X syndrome. Polymerase chain reaction(PCR) and Southern blot analysis were performed to evaluate the number of CGG repeats in the FMR1 gene. RESULTS: The DNA samples from the carrier mother gave a large fragment over 300 repeats by PCR. All 35 control samples showed fragments sized under 35 repeats. CONCLUSIONS: Prenatal diagnosis of the fragile X syndrome could be done with mid-trimester amniotic fluid using PCR and Southern blot method.
Amniotic Fluid* ; Blotting, Southern ; DNA* ; Female ; Fragile X Syndrome* ; Humans ; Intellectual Disability ; Mothers ; Polymerase Chain Reaction ; Prenatal Diagnosis* ; Risk Factors

PURPOSE: To assess the usefulness of rectal filling using ultrasonographic gel in patients with lower rectal cancer. MATERIALS AND METHODS: Twenty five patients with lower rectal cancer were enrolled. High resolution pelvic MR was performed twice before and after gel filling. Independently and retrospectively, two radiologists reviewed each set of MR images using five-grade scales for sphincter involvement, CRM (circumferential resection margin) involvement and depiction of the tumor. Same two radiologists retrospectively performed consensus review of each set of MR images for tumor distance from the anal verge and T&N staging. RESULTS: Tumor depiction scores from MR with gel filling were significantly higher than those of MR without distention (p<0.001). Compared to MR without distension, MR with gel filling had no significant differences in prediction of CRM or sphincter involvement (p>0.05). Distance from the anal verge was significantly different between MR with gel filling and rigid endoscopy (6.8 +/- 1.6 cm vs. 5.8 +/- 1.6 cm, p=0.001). There were no significant differences between pathological staging and MR staging with or without gel filling. CONCLUSION: MR with gel filling improved tumor depiction. And also MR with gel filling revealed same ability for the predictions of CRM or sphincter invasion in patients with lower rectal cancer, comparing with MR without gel filling.
Consensus ; Endoscopy ; Humans ; Rectal Neoplasms* ; Rectum ; Retrospective Studies ; Weights and Measures

OBJECTIVE: To evaluate how resection margin involvement after LLETZ affect treatment of CIN and microinvasive cervical cancer, and several factors affecting the resection margin involvement. METHOD: Retrospective analysis was performed in 160 patients that underwent LLETZ at Gachon Medical College, Gil Medical Center from March, 1997 to September , 1998. The several factors affecting the resection margin involvement were analyzed. RESULT: The following results were obtained. 1. 127 patients were diagnosized finally with CIN, 30 patients with microinvasive SCC and 3 patients with chronic inflammation. 2. The rate of the negative resection margin involvement was 81% and that of the positive was 19%. 3. No case among 129 cases with the negative resection margin had residual lesion, but 9 cases among 31 cases with the positive resection margin had residual lesion. As a whole, the rate of residual lesion was 6.2%. 4. In CIN, 3 cases of 19 cases with the positive resection margin had residual lesion, but none with the negative resection margin had. 5. The degree of histopathology, glandular involvement, menopause, colposcopic evaluation were correlated with the resection margin involvement but delivery mode and HPV infection not correlated. CONCLUSION: LLETZ is a enough method to reduce unnecessary hysterectomy in the treatment of CIN, if followed up, in spite of the positive resection margin because of low rate of lesidual lesion, and is a effective method in the treatment of microinvasive cervical cancer when the case with negative resection margin and no lymphovascular invasion was followed up.
Female ; Humans ; Hysterectomy ; Inflammation ; Menopause ; Retrospective Studies ; Uterine Cervical Neoplasms

PURPOSE: To evaluate the usefulness of the esophagogram using marshmallow bolus in the evaluation of the causes of variable esophageal-related symptoms. MATERIALS AND METHODS: Esophagograms using marshmallow bolus were performed on 44 patients with esophageal-related symptoms and on ten normal volunteers. Video fluoroscopic studies were also made. Patients were classified into three groups according to their esophageal-related symptoms ; those with dysphagia, those with globus symptom, and those with chest pain. Abnormal findings on an esophagogram with marshmallow were graded into three categories ; mild, moderate, and severe. Provocation of the same symptom wasalso evaluated. Esophageal manometric studies were performed on 16 patients and those results were compared with the results obtained from the esophagogram using marshmallow bolus. RESULTS: The provocation rate of the same symptom was 33% in the first group, 47% in the second, and 24% in the third. The provocation rate was highest inthe second group. The provocation rate was also higher in patients with a severe degree of abnormality on anesophagogram using marshmallow bolus. Where there were abnormal findings, an esophagogram using marshmallow bolus showed a higher abnormality rate than did a conventional esophagogram. In cases showing abnormal findings on the esophageal manometric study, an esophagogram using marshmallow bolus showed a higher provocation rate and more severe abnormality than in cases showing normal findings on manometric study. CONCLUSION: An esophagogram using marshmallow bolus will a useful radiologic screening modality for the evaluation of patients with esophageal-related symptoms.
Althaea* ; Chest Pain ; Deglutition Disorders ; Healthy Volunteers ; Humans ; Mass Screening

OBJECTIVE: To investigate the relationships between the apparent diffusion coefficients (ADCs) on diffusion-weighted imaging (DWI) and the speed of contrast-enhancement in hepatic hemangiomas. MATERIALS AND METHODS: Sixty-nine hepatic hemangiomas (> or = 1 cm) were evaluated with DWI, by using multiple b values (b = 50, 400, 800 s/mm2), followed by a gadolinium-enhanced dynamic MRI. The lesions were classified into three groups, according to the speed of contrast-enhancement on the portal phase. ADCs were measured on the ADC map automatically, and were calculated by using the two different b values (mADC50-400 with b values = 50 and 400; mADC400-800 with b values = 400 and 800 s/mm2). RESULTS: The mean ADCs (x 10-3 mm2/s) were significantly higher in the rapid group (1.9 +/- 0.44) than in the intermediate (1.7 +/- 0.35, p = 0.046) or the slow groups (1.4 +/- 0.34, p = 0.002). There were significant differences between the rapid and the slow groups in mADC50-400 (2.12 vs. 1.48; p = 0.008) and mADC400-800 (1.68 vs. 1.22, p = 0.010), and between the rapid and the intermediate groups in mADC50-400 (2.12 vs. 1.79, p = 0.049). Comparing mADC50-400 with mADC400-800, there was a significant difference only in the rapid group (p = 0.001). CONCLUSION: Higher ADCs of rapidly-enhancing hemangiomas may be related to richer intralesional vascular perfusion. Also, the restricted diffusion may be attributed to the difference of structural characteristics of hemangioma.
Adult ; Aged ; Contrast Media ; *Diffusion Magnetic Resonance Imaging ; Female ; Gadolinium DTPA/diagnostic use ; Hemangioma, Cavernous/*diagnosis ; Humans ; Image Enhancement ; Liver Neoplasms/*diagnosis ; *Magnetic Resonance Imaging ; Male ; Middle Aged