Erdheim-Chester disease with multisystem involvement in a 4-year-old.

Erdheim-Chester disease is a rare form of non-Langerhans histiocytosis of unknown origin occurring mainly in adults. It is extremely rare in children. We report a case of a 4-year-old boy with Erdheim-Chester disease that initially presented as hemifacial palsy and bone pain with multisystem involvement. We describe radiographic findings of bones that show characteristic bilateral symmetrical osteosclerosis with atypical osteolytic lesions in addition to CT findings for pulmonary involvement and MR findings for intracranial lesions.

MR imaging features of obturator internus bursa of the hip.

The authors report two cases with distension of the obturator internus bursa identified on MR images, and describe the location and characteristic features of obturator internus bursitis; the "boomerang"-shaped fluid distension between the obturator internus tendon and the posterior grooved surface of the ischium.

Sonographic findings in a model of ischemia-induced necrotizing enterocolitis with pathological correlations.

PURPOSE: To evaluate sonographic findings in ischemic enterocolitis (IEC) and correlate with pathologic findings in an experimental study. MATERIALS AND METHODS: Ischemic enterocolitis was induced with ligation of the superior mesenteric artery in 20 rabbits. Plain radiography and ultrasonography (US) were performed. US was done hourly after the ligation using 10 MHz linear probe. US findings were categorized into 2 groups according to the bowel wall echogenicity; the echogenic dots (ED) group and the circumferential granular echogenicity (CGE) group. US findings were compared with the specimen radiography and the histopathology. RESULTS: On US, ED were seen in the bowel of all rabbits after SMA ligation (2.2 +/- 1.3 hours [standard deviation]) and CGE in 16 rabbits (4.1 +/- 0.9 hours). On the specimen radiographs, multiple radiolucent air bubbles were present. Comparing the ED and CGE group, histopathological findings revealed the CGE group had severer injury of the bowel wall than the ED group. On plain radiography, there was progressive bowel distention, but pneumatosis intestinalis (PI) was not evident. CONCLUSION: ED or CGE are the sonographic findings of ischemic enterocolitis, and bowel wall echogenicity might reflect the degree of ischemic injury.

Baseline Assessment of 25-Hydroxyvitamin D Reference Material and Proficiency Testing/External Quality Assurance Material Commutability: A Vitamin D Standardization Program Study.

The Vitamin D Standardization Program (VDSP) coordinated a study in 2012 to assess the commutability of reference materials and proficiency testing/external quality assurance materials for total 25-hydroxyvitamin D [25(OH)D] in human serum, the primary indicator of vitamin D status. A set of 50 single-donor serum samples as well as 17 reference and proficiency testing/external quality assessment materials were analyzed by participating laboratories that used either immunoassay or LC-MS methods for total 25(OH)D. The commutability test materials included National Institute of Standards and Technology Standard Reference Material 972a Vitamin D Metabolites in Human Serum as well as materials from the College of American Pathologists and the Vitamin D External Quality Assessment Scheme. Study protocols and data analysis procedures were in accordance with Clinical and Laboratory Standards Institute guidelines. The majority of the test materials were found to be commutable with the methods used in this commutability study. These results provide guidance for laboratories needing to choose appropriate reference materials and select proficiency or external quality assessment programs and will serve as a foundation for additional VDSP studies.

Baseline Assessment of 25-Hydroxyvitamin D Assay Performance: A Vitamin D Standardization Program (VDSP) Interlaboratory Comparison Study.

The Vitamin D Standardization Program (VDSP) coordinated an interlaboratory study to assess the comparability of measurements of total 25-hydroxyvitamin D [25(OH)D] in human serum, which is the primary marker of vitamin D status. A set of 50 individual donor samples were analyzed by 15 different laboratories representing national nutrition surveys, assay manufacturers, and clinical and/or research laboratories to provide results for total 25(OH)D using both immunoassays (IAs) and LC tandem MS (MS/MS). The results were evaluated relative to bias compared with the target values assigned based on a combination of measurements at Ghent University (Belgium) and the U.S. National Institute of Standards and Technology using reference measurement procedures for the determination of 25(OH)D2 and 25(OH)D3. CV and mean bias for each laboratory and assay platform were assessed and compared with previously established VDSP performance criteria, namely CV ≤ 10% and mean bias ≤ 5%. Nearly all LC-MS/MS results achieved VDSP criteria, whereas only 50% of IAs met the criterion for a ≤10% CV and only three of eight IAs achieved the ≤5% bias. These results establish a benchmark for the evaluation of 25(OH)D assay performance and standardization activities in the future.

Comparison of gastric and other bowel perforations in preterm infants: a review of 20 years' experience in a single institution.

PURPOSE: In this study, we aimed to review the clinical presentation of preterm infants with gastrointestinal perforations and compare the clinical features of gastric perforation with other intestinal perforations. METHODS: The medical records of preterm neonates with pneumoperitoneum, admitted to the neonatal intensive care unit (NICU) between January 1994 and December 2013, were retrospectively reviewed. RESULTS: Twenty-one preterm infants underwent exploratory laparotomy to investigate the cause of the pneumoperitoneum. The sample consisted of five patients (23.8%) with gastric perforation and 16 patients (76.2%) with intestinal perforation. No statistical differences were found in the birth history and other perinatal factors between the two groups. Underlying necrotizing enterocolitis, bilious vomiting, and paralytic ileus preceding the perforation were statistically more common in the intestinal perforation group. All preterm infants with gastric perforation survived to discharge; however, six preterm infants with intestinal perforation expired during treatment in the NICU. In the gastric perforation group, sudden pneumoperitoneum was the most common finding, and the mean age at diagnosis was 4.4±1.7 days of life. The location and size of the perforations varied, and simple closure or partial gastrectomy was performed. CONCLUSION: Patients with gastric perforation did not have a common clinical finding preceding the perforation diagnosis. Although mortality in previous studies was high, all patients survived to discharge in the present study. When a preterm infant aged less than one week presents with sudden abdominal distension and pneumoperitoneum, gastric perforation should first be excluded. Prompt exploratory laparotomy will increase the survival rates of these infants.

A case of pyothorax-associated lymphoma simulating empyema necessitatis.

We describe a case of a diabetic man with a 40-year history of chronic tuberculous empyema presented with fever, chest pain and bulging soft tissue of the right chest wall. CT scan revealed a huge chest wall mass showing extensive necrosis with air-bubbles and destruction of the ribs. Decortication and extirpation of the chest wall mass were performed, and histopathologic examination confirmed diffused large cell type non-Hodgkin's lymphoma.

CT analysis of retropharyngeal abnormality in Kawasaki disease.

OBJECTIVE: To retrospectively compare the imaging characteristics of retropharyngeal density and associated findings for Kawasaki disease with those for non-Kawasaki disease, and identify the distinguishing features which aid the CT diagnosis of Kawasaki disease with retropharyngeal low density. MATERIALS AND METHODS: Among the enhanced neck CT performed in children less than 8-years old with clinical presentation of fever and cervical lymphadenopathy over a 6-year period, only cases with retropharyngeal low density (RLD) were included in this study. The 56 cases of RLD were divided into two groups; group A included cases diagnosed as Kawasaki disease (n = 34) and group B included cases diagnosed as non-Kawasaki disease (n = 22). We evaluated the CT features including the thickness of RLD and its extent into the deep neck spaces, as well as soft tissue change in the adjacent structure. We also scored the extent of RLD into the deep neck spaces and the soft tissue changes in the adjacent structure. RESULTS: The thickness of RLD was greater in group A than in group B (group A, 6.0 ± 2.1; group B, 4.6 ± 1.5, p = 0.01). The score of the RLD extent into the deep neck spaces was significantly greater in group A than in group B (group A, 2.3 ± 1.3; group B, 0.8 ± 1.0, p < 0.01). Also, the score of the adjacent soft tissue changes was greater in group A than in group B (group A, 2.0 ± 1.1; group B, 1.0 ± 1.0, p < 0.01). CONCLUSION: If children present with fever and cervical lymphadenopathy that display retropharyngeal low density with extension into more deep neck spaces as well as changes in more adjacent soft tissue, the possibility of Kawasaki disease should be considered.

Enterovirus 71-associated hand, foot and mouth diseases with neurologic symptoms, a university hospital experience in Korea, 2009.

PURPOSE: Hand-foot-mouth disease (HFMD) is a common viral illness in children, which is usually mild and self-limiting. However, in recent epidemics of HFMD in Asia, enterovirus 71 (EV71) has been recognized as a causative agent with severe neurological symptoms with or without cardiopulmonary involvement. HFMD was epidemic in Korea in the spring of 2009. Severe cases with complications including death have been reported. The clinical characteristics in children with neurologic manifestations of EV71 were studied in Ewha Womans University Mokdong Hospital. METHODS: Examinations for EV71 were performed from the stools, respiratory secretion or CSF of children who presented neurologic symptoms associated with HFMD by realtime PCR. Clinical and radiologic data of the patients were collected and analyzed. RESULTS: EV71 was isolated from the stool of 16 patients but not from respiratory secretion or CSF. Among the 16 patients, meningitis (n=10) was the most common manifestation, followed by Guillain-Barré syndrome (n=3), meningoencephalitis (n=2), poliomyelitis-like paralytic disease (n=1), and myoclonus (n=1). Gene analysis showed that most of them were caused by EV71 subgenotype C4a, which was prevalent in China in 2008. CONCLUSION: Because EV71 causes severe complications and death in children, a surveillance system to predict upcoming outbreaks should be established and maintained and adequate public health measures are needed to control disease.

An infected urachal cyst containing an appendicolith: a case report.

We present a case of an 8-year-old girl with an infected urachal cyst containing an appendicolith found secondary to an appendico-urachal cyst fistula caused by perforated appendicitis. The clinical features and computed tomographic manifestations of this unusual case are discussed.

A chenodeoxycholic derivative, HS-1200, induces apoptosis and cell cycle modulation via Egr-1 gene expression control on human hepatoma cells.

We previously reported that HS-1200, a synthetic chenodeoxycholic acid derivative, has apoptosis-inducing activity in various human cancer cells. The present study was undertaken to examine whether HS-1200 had an anticancer effect on HepG2 (wild-type p53) and Hep3B (p53 deleted) human hepatoma cells. Treatment of both cells with HS-1200 resulted in growth inhibition and induction of apoptosis as measured by MTT assay, nuclear staining, DNA fragmentation and flow cytometry analysis. The increase in apoptosis was associated with the alteration in the ratio of Bcl-2/Bax protein expression. In addition, flow cytometry analysis indicated that HS-1200 induced G1 phase arrest in both cells. When analyzing the expression of cell cycle-related proteins, we found that HS-1200 reduced the expression levels of cyclin D1, cyclin A, and Cdk2. HS-1200 treatment also caused an increase in the expression levels of p21 WAF1/CIP1 in HepG2 cells in a p53-dependent manner and in Hep3B cells in a p53-independent manner. Moreover, the expression level of p27 KIP1 was increased in both cell lines. We also observed that HS-1200 decreased the levels of cyclooxygenase (COX)-2 mRNA and protein expression. Furthermore, HS-1200 treatment markedly induced the Egr-1 expression at an early time point, and the increased expression levels of p53, p21 WAF1/CIP1, p27 KIP1, and COX-2 after treatment with HS-1200 were completely inhibited in HepG2 cells and partially inhibited in Hep3B cells by silencing of Egr-1, respectively. Taken together, these findings provide important new insights into the possible molecular mechanisms of the anticancer activity of the synthetic bile acid derivative, HS-1200, through Egr-1 regulation.

The clinical usefulness of multidetector computed tomography of the sacroiliac joint for evaluating spondyloarthropathies.

BACKGROUND: Due to the low sensitivity of plain radiography, the diagnosis of early stage ankylosing spondylitis (AS) is often difficult since many patients do not meet the radiographic criteria. The objective of our study was to investigate the diagnostic value of performing multidetector computed tomography (MDCT) of the sacroiliac (SI) joint in the evaluation of AS patients. METHODS: Thirty seven patients with definite or probable AS were evaluated. Plain radiography and MDCT imaging of the pelvis were performed for evaluating the SI joints. Two radiologists analyzed the images, and they graded the sacroiliitis on a scale of 0-4 according to the modified NY criteria. The clinical variables we analyzed included the disease duration, the treatment duration, the prescribed drugs, peripheral joint involvement, enthesopathy, the functional limitations and the BASDAI. RESULTS: MDCT detected more bilateral sacroiliitis as compared to the plain radiography (86.5% vs. 75.7%, respectively), and MDCT yielded a higher grade of disease in 32.4% (right SI joint) and 24.3% (left SI joint) of the patients. More patients satisfied the modified NY criteria with using MDCT as compared with that when using the plain radiography (81.1% vs. 54.1%, respectively, p=0.002). CONCLUSIONS: Visualization of the sacroiliac joint by MDCT provided a better diagnosis of AS, and especially during the early stage of the disease.

[Comparisons of latex agglutination, immunochromatography and enzyme immunoassay methods for the detection of rotavirus antigen].

BACKGROUND: Rotavirus is the most common cause of childhood gastroenteritis during winter season. Rapid, accurate diagnosis is essential for preventing severe complications of rotaviral gastroenteritis. The sensitivity and specificity of five detection test kits for rotavirus including latex agglutination (LAT), enzyme immunoassay (EIA) and three immunochromatographic methods (ICG) were evaluated in this study. METHODS: A total of 95 stool samples collected from patients with acute gastroenteritis were studied. The test kits were as follows: LAT (Slidex latex, bioMerieux Vitek, France); three kinds of ICG (Dipstick ROTA, Eiken, Japan; SAS Rota Test, SA Scientific, Inc., USA; and ASAN Easy Test Rota strip, ASAN Pharmaceutical., Korea); and EIA (VIDAS Rotavirus, bioMerieux Vitek). The samples showing discordant results were reevaluated by reverse-transcription (RT) PCR and clinical manifestations. RESULTS: Of a total of 95 cases, 56 (58.9%) were positive and 39 (41.1%) were negative. Thirteen cases showed discordant results. Sensitivity and specificity were, respectively, 85.7% and 100% for LAT, 100% and 95% for both of Dipstick ROTA and SAS Rota, 86.7% and 87.5% for ASAN Rota strip and 98.1% and 97.3% for EIA. CONCLUSIONS: LAT was rapid and easy to perform and showed the lowest sensitivity among the five test kits. ICG showed a good agreement with EIA and RT-PCR. EIA was the best in respect of sensitivity and specificity, but difficulty in interpretations of equivocal results and time-consuming procedures were limitations. In conclusion, ICG, which is easy to perform at a low cost, may be an optimal method in place of LAT for the detection of rotavirus.

The common ultrasonographic features of pilomatricoma.

OBJECTIVES: The purpose of this series was to describe typical ultrasonographic features of 20 cases of pilomatricoma and to improve its diagnostic rate with the use of an ultrasonographic approach. METHODS: For 20 pilomatricomas in 19 patients with preoperative ultrasonography from 1995 to 2004, we reviewed age, sex, symptoms, duration, referring clinician, and tumor sites. The ultrasonographic findings were retrospectively analyzed for tumor location, shape, size, margin, echo texture, echogenicity, presence, amount, and shape of calcification, presence of a hypoechoic rim, and Doppler flow pattern. RESULTS: The mean age of the 19 patients was 6.9 years (range, 1-21 years), and the female-male ratio was 1.1:1. Patients had a painful palpable mass in 10 cases (50%). Nine lesions occurred in the neck, 5 in the cheek, 2 in the preauricular region, and 4 in the extremity. All tumors were located in the subcutaneous layer. The mean size of the tumors was 13.4 mm. Fourteen pilomatricomas (70%) appeared as well-defined oval masses. Tumors were heterogeneously hyperechoic in 80% of cases. All tumors had internal echogenic foci. A hypoechoic rim was seen in 17 cases (85%). Doppler flow signals were observed in the peripheral region in 14 cases (70%). A correct preoperative diagnosis was made in 33% on the basis of clinical findings and in 76% by ultrasonography. CONCLUSIONS: Diagnosis of pilomatricoma should be considered when a well-defined mass with inner echogenic foci and a peripheral hypoechoic rim or a completely echogenic mass with strong posterior acoustic shadowing in the subcutaneous layer of the head, neck, or extremity is found on ultrasonography.

A peculiar multiple polypoid mucosal prolapse causing jejunal intussusception.

A case of jejunal intussusception caused by a multiple polypoid mucosal prolapse of jejunum in a 10-year-old girl is reported. The rarity of the lesion, its location, symptoms, and diagnosis are discussed.