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

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

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

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 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

Contrast enhancement during the dynamic MR imaging is important for the detection and characterization of focal liver lesions. The purpose of this study was to determine whether or not a timing examination with a injection of a 1.0-mL bolus of gadopentetate dimeglumine into the antecubital vein followed by rapid dynamic scanning and measurement of signal intensity of the aorta could help to obtain proper arterial-dominant phase images for the characterization of focal hepatic lesions during subsequent multiphase dynamic MR imaging. The imaging delay to acquisition of the first gadolinium-enhanced image for multiphase dynamic MR imaging was set to equal the time to peak aortic enhancement during the test examination. The first contrast-enhanced images of 80 patients with 160 focal liver lesions (hepatocellular carcinoma, n = 79; cavernous hemangioma, n = 51; metastatic tumor, n = 30) were then retrospectively reviewed. Peak aortic enhancement occurred between 10 and 28 seconds (mean, 16.5 seconds +/- 3.1) after starting the infusion of contrast material in 80 patients during the test-examination. Depending on the findings of intrahepatic vascular enhancement on the full-scale dynamic images, hepatic arterial phase (n = 11, 14%) or sinusoid phase (n = 65, 81%) imaging was obtained during the first gadolinium-enhanced acquisition in 76 (95%) of 80 patients. Three different lesions were well characterized and easily distinguished from each other (p < .0001) on the first-phase images depending on their enhancement pattern. In the majority of patients, timing examination with test-bolus injection was helpful in obtaining qualified images for the characterization of various focal lesions.
Adult ; Aged ; Aged, 80 and over ; Female ; Hepatic Artery/pathology ; Human ; Image Enhancement* ; Liver/pathology* ; Liver Neoplasms/secondary ; Liver Neoplasms/diagnosis ; Magnetic Resonance Imaging ; Male ; Middle Age ; Time Factors

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

Acute invasive small bowel anisakiasis is an extremely rare cause of small bowel obstruction. The authors report a case of surgically verified small bowel anisakiasis resulting in small bowel obstruction. A 54-year-old man presented with suddenly developed diffuse abdominal pain after ingestion of raw fish. The peripheral blood examination showed leukocytosis without eosinophilia. CT showed a long segment of thickened small bowel accompanied by a focal narrowed portion and combined with ascites. When these findings are noted in patients with a history of recent ingestion of raw or undercooked fish, the diagnosis of small bowel anisakiasis should be considered in order to avoid application of unnecessary surgical treatment, in spite of the severity of the abdominal pain and bowel obstruction.
Anisakiasis/complications/*radiography/surgery ; Humans ; Intestinal Obstruction/*parasitology/*radiography/surgery ; Intestine, Small/*parasitology/radiography ; Male ; Middle Aged ; *Tomography, X-Ray Computed