Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.

Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is an X-linked dominant disorder, caused by heterozygous mutations in the OFD1 gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. We encountered a family with three affected male neonates having an 'unclassified' X-linked lethal congenital malformation syndrome. Exome sequencing of entire transcripts of the whole X chromosome has identified a novel splicing mutation (c.2388+1G > C) in intron 17 of OFD1, resulting in a premature stop codon at amino acid position 796. The affected males manifested severe multisystem complications in addition to the cardinal features of OFD1 and the carrier female showed only subtle features of OFD1. The present patients and the previously reported male patients from four families (clinical OFD1; Simpson-Golabi-Behmel syndrome, type 2 with an OFD1 mutation; Joubert syndrome-10 with OFD1 mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and/or cerebellar vermis and posterior fossa abnormalities).

Hepatocellular carcinoma patients showing long-term complete responses to chemoembolization.

The objective was to evaluate hepatocellular carcinoma (HCC) patients showing a long-term complete response (CR) to chemoembolization. We defined the criteria of CR as normalized tumor marker, no enhanced tumor in diagnostic images, and no tumor cells found at autopsy. Five HCC patients showing long-term CR to chemoembolization were evaluated. The CR period ranged from 3.5 to 7 years (mean, 5.7 years). The survival period ranged from 3.5 to 9 years (mean, 6.7 years). Four cases (80%) were stage IV according to the TNM classification due to a portal tumor thrombus. The liver function was rated as Child's A in four cases (80%). Long-term CR to chemoembolization can be achieved even in some advanced HCC cases with a tumor thrombus. We speculate that the good antitumor effect is brought about by the stagnation of both the arterial and portal blood flows to the HCC. Good liver function is also considered to be an important factor for long-term CR and a long survival period. If the liver function is good, advanced HCC with a portal tumor thrombus should be treated aggressively with chemoembolization.

Magnetic resonance imaging-histologic correlation of small hepatocellular carcinomas adenomatous hyperplasias.

RATIONALE AND OBJECTIVES: Hepatocellular carcinomas (HCCs) usually consist of components of different histologic grade. Using surgically resected specimens, the authors obtained high-resolution magnetic resonance (MR) images and studied the relationship between histologic grade of HCCs and MR signal intensity. METHOD: In vitro MRI was performed on 15 small (less than 20-mm diameter) HCCs and 2 patients with adenomatous hyperplasia (AH) within 1 hour of surgical resection. In these 17 lesions, 24 macroscopic nodular components corresponding to MR images were recognized pathologically. The difference in MR signal intensity was examined by using tumor/phantom (T/P) signal-intensity ratio. In addition, the correlations between signal intensity on MRI and histologic criteria for grading HCC were studied. RESULTS: On T2-weighted images, grade II HCCs had significantly greater T/P values than grade I HCCs (P < .01). There is the correlation (r = .88, P < .001) between nucleocytoplasmic (N/C) ratio and signal intensity of small HCCs and AHs on T2-weighted images. CONCLUSION: The N/C ratio is an important factor relating the signal intensity to the histologic grade of these lesions on T2-weighted images.

Superparamagnetic iron oxide enhanced magnetic resonance imaging of rat liver with hepatocellular carcinoma and benign hyperplastic nodule.

RATIONALE AND OBJECTIVES: The authors assess the potential of a new superparamagnetic iron oxide (SPIO) in grading hepatocellular carcinoma (HCC) histologically and in differentiating HCC from benign hyperplastic nodule (HPN). METHODS: Nine Wistar rats (with poorly to moderately differentiated HCC, well-differentiated HCC, and HPN) received drinking water containing N-nitrosomorpholine, and were examined by magnetic resonance imaging (4.7 tesla). Spin-echo images (repetition time/echo time, 600/24.5 mseconds) were obtained before and 15 minutes after intravenous administration of 10 mumol Fe/kg of SH U 555A. RESULTS: Poorly to moderately differentiated and well-differentiated HCC showed no significant change in signal-to-noise ratio (SNR) 15 minutes after contrast, whereas HPN showed a significant decrease in SNR. The contrast-to-noise ratio (CNR) between each kind of tumor and adjacent liver parenchyma showed a significant increase at 15 minutes after contrast. CONCLUSIONS: The SPIO discussed in this article may help to differentiate HCC from HPN, but it remains difficult to grade hepatocellular carcinoma histologically.

Microcatheter with a ball tip for hepatic embolization and intra-arterial chemotherapy.

A microcatheter used mainly for cranial arterial embolization and chemotherapy was employed for hepatic arterial embolization. The tip of the microcatheter is inflated like a small balloon which then acts as a calibrated-leak balloon. A coaxial system employing a conventional catheter for abdominal angiography combined with a propulsion chamber was used. Successful chemotherapy and embolization by Lipiodol and Spongel was carried out even in cases in whom it has been considered impossible to insert a catheter into the desired arteries.

Identification of Trace Sterols in the Seeds of Foxtail Millet (Setaria italica Beauv.).

Trace sterols in the seeds of foxtail millet (Setaria italica Beauv.) were investigated by GC-MS. Eleven of these trace sterols, i.e., brassicasterol, episterol, 24-methyllathosterol, 24-ethyllathosterol, avenasterol, 24-methylenecholesterol, fucosterol, isofucosterol, 24-methyl-5α-cholest-24(28)-en-3ß-ol, 24-ethyl-5α-cholest-24(28)Z-en-3ß-ol, and 24-ethyldesmosterol, were identified, suggesting that the previously reported high content of sitostanol was possibly contaminated with a small amount of isofucosterol.

MRI of cervical adenocarcinoma with cystic components.

We encountered two cases of endocervical well-differentiated adenocarcinoma with cystic components. Magnetic resonance findings of the first case showed cystic lesion with enhanced mural nodule in the uterine cervix. The second case showed multicystic lesion in the uterine cervix. The cystic walls were thickening in the postcontrast T1-weighted image. The cervical adenocarcinoma with cystic components should be added to one of differential diagnosis of the uterine cervical cystic lesion.

Helical CT imaging of gastric cancer: normal wall appearance and the potential for staging.

PURPOSE: To evaluate the CT appearance of the normal gastric wall and the effectiveness of contrast enhanced helical CT for T-staging of gastric cancer. METHODS: For the basic experiment, two resected stomachs with gastric cancer were filled with water and examined by helical CT imaging. For the clinical study, 59 consecutive patients with gastric cancer who had received preoperative helical CT examination and had also been operated on were entered in this study. Helical CT images were evaluated independently by three radiologists without knowledge of histological staging results. RESULTS: The basic examination of a histopathological correlation with CT images revealed that the inner layer with high attenuation corresponded to the mucosa and the muscular layer of the mucosa, the middle layer with low attenuation to the submucosal layer consisting of coarse tissues and containing fatty tissues, and the outer layer with slightly high attenuation to the proper muscle with serosa. The clinical study revealed that the rate of correct diagnosis through consensus reading was 66.1%. CONCLUSION: The entire stomach with a well-stained mucosa can be visualized by contrast enhanced helical CT. However, T-staging of gastric cancer by helical CT did not appear to improve the accuracy of staging.

MR imaging of mesenteric hemangioma: a case report.

A 62-year-old woman presented with a mobile abdominal palpable mass. She underwent MR examination twice. Because of the mobility of the mass, it was out of the field of view on the first MR examination. The second MR examination detected the mass, which showed heterogeneous signal intensity including low and high intensity on T2-weighted spin echo images. The mass, which was cavernous hemangioma with old hemorrhage, was difficult to differentiate from fibroma or thecoma of the ovary or subserosal leiomyoma of the uterus.

A case of fallopian tube carcinoma: successful preoperative diagnosis with MR imaging.

We report a case of fallopian tube carcinoma, successfully diagnosed preoperatively. The patient was a 64-year-old woman. Transvaginal sonography and computed tomography showed a cystic and solid tumor on the left side of the uterus, suggesting ovarian cancer. The tumor was, however, suspected to be a fallopian tube carcinoma on MR imaging. MR images showed a solid mass surrounded by a tube-shaped cystic part. At surgery, a solid and cystic tumor was found in the left fallopian tube. MR imaging may be useful to assist in the diagnosis of fallopian tube carcinoma.

Combined hepatocellular and cholangiocellular carcinoma.

A patient with combined hepatocellular carcinoma (HCC) and cholangiocellular carcinoma (CCC) underwent partial hepatectomy, and the correlation between the pathological and radiological findings was examined retrospectively. The tumor showed hypoattenuation and hypoenhancement relative to the surrounding liver parenchyma on noncontrast and postcontrast CT, respectively. Both the HCC and CCC components of the tumor showed hypointensity and heterogeneous hyperintensity on T1- and T2-weighted spin echo images, respectively. While the HCC component of the tumor showed hyperenhancement relative to the liver parenchyma on arterial phase images of dynamic MR imaging, the CCC component showed hypoenhancement. When components with different degrees of vascularity are seen in a hepatic tumor, combined HCC and CCC should be considered.

MRI appearance of ruptured corpus luteum.

A 20-year-old woman was admitted complaining of lower abdominal pain. Transabdominal ultrasound revealed a fluid collection in the pouch of Douglas and an irregularly shaped ovary with cystic lesions. Malignant cystic mass of the right ovary was highly suspected from the ultrasound findings. Transvaginal peritoneal centesis yielded a bloody fluid, but the pregnancy test was negative. On the third day of admission, menstruation began. MR examination performed four days after the initial onset of pain showed a subacute hematoma just adjacent to the right ovary, and segmental interruption of the right ovarian cortex. Based on these MR findings and the patient's history, subacute hemorrhage from the right ovarian corpus luteum was suspected, and this was confirmed with surgical exploration.

Evaluation of image quality and spatial resolution of low-dose high-pitch multidetector-row helical high-resolution CT in 11 autopsy lungs and a wire phantom.

PURPOSE: The aim of this study was to evaluate whether low-dose high-pitch (6:1) multidetector-row helical high-resolution CT is appropriate for the evaluation of various pulmonary abnormalities, including faint opacities. METHODS: Eleven autopsy lungs were scanned with a multidetector-row CT scanner using 2.5 mm x 4 beam collimation, effective slice thickness 3 mm, 6:1 pitch, 0.8 second gantry rotation speed, 20 cm Display FOV, high spatial frequency (bone) algorithm, and various radiation doses (120 kVp; 160, 80, 40, 24, and 8 mAs). The image quality of each CT set was assessed as adequate or inadequate for diagnosis by two independent observers. In addition, a wire phantom was scanned with the same parameters in order to describe the MTF curves. RESULTS: There was excellent agreement between the observers for the evaluation of image quality (kappa statistic, 0.84). The ratio of images evaluated as inadequate for 8 mAs and 24 mAs was significantly higher than that for 160, 80, and 40 mAs (p<0.01: chi-square test). MTF curves of both 8 and 24 mAs were significantly inferior to those of 40, 80, and 160 mAs (p<0.0 1, Friedman test), while the MTF curve of 40 mAs was relatively inferior to that of 160 mAs (p<0.05, Friedman test). CONCLUSION: More than 40 mAs in combination with 120 kVp is preferable for the evaluation of details of lung parenchyma by high-pitch. multidetector-row helical high-resolution CT.

Evaluation of compressed lung CT image quality using quantitative analysis.

The goals of this study were (1) to evaluate the quality of compressed lung CT images obtained using high resolution CT (HRCT: 2 mm slice thickness) for degree of compression and conventional CT (10 mm slice thickness) images by using physical and subjective evaluations, and (2) to analyze the distortion of density distribution on lung CT images using histogram analysis for each compression ratio. The coding method was performed according to the Joint Photographic Experts Group (JPEG). We physically evaluated the quality of compressed lung CT images using the peak signal-to-noise ratio (PSNR) as given by the square root of the ratio of the peak value of the gray level squared to the mean square error (dB) and subjectively evaluated the CT images using the mean opinion score (MOS). The acceptable compression ratio for diagnosis was about 1:6 to 1:7 for conventional CT images and about 1:4 to 1:5 for HRCT images as determined by MOS. The PSNR corresponding to acceptable compression ratios was about 50 dB. The difference in density distribution between HRCT and conventional CT was statistically significant (Friedman test: p<0.02) in histogram analysis. Results suggested that, in comparison with conventional CT, a high compression ratio was not suitable for HRCT.

Small PACS for digital medical images--reliability and security in a clinical setting.

Recently we introduced a small Picture Archiving Communication System (PACS) for handling CT and MRI data. Our experience with this system has been useful in identifying potential problems in a clinical setting. Since the use of PACS raises both medical and social concerns, it cannot be instituted without addressing concerns related to the reliability and security issues. Although PACS is useful in the management of medical images, there are concerns about their reliability and security in a clinical setting. Reliability encompassed image quality, timeliness of the reports, and the PACS to the Radiological Information System (RIS) interface including the retrieval of the previously obtained images. The security of the patient's medical data is also essential.

Comparative effects of Ringer's acetate and lactate solutions on intraoperative central and peripheral temperatures.

STUDY OBJECTIVES: To compare the effects of Ringer's lactate (LR) and Ringer's acetate (AR) solutions on core body and peripheral temperatures during isoflurane or sevoflurane anesthesia. DESIGN: Prospective, randomized study. SETTING: Operating rooms of a university hospital. PATIENTS: 60 ASA physical status I and II patients undergoing general surgery. INTERVENTIONS: Following induction with 5 mg/kg of thiamylal and 0.1 mg/kg of vecuronium, patients were randomly assigned to one of four groups (15 patients per group). They received inhalation anesthetics (66% nitrous oxide [N2O] and 1.0% to 2.0% isoflurane or 1.3% to 2.6% sevoflurane) and LR or AR. MEASUREMENTS AND MAIN RESULTS: Tympanic membrane (central) temperatures, forearm temperatures, and fingertip temperatures were recorded during surgery every 30 minutes. Tympanic membrane temperatures in the patients given AR were significantly higher than those given LR during isoflurane anesthesia 5 and 30 minutes after induction of anesthesia. However, this was not the case for sevoflurane anesthesia. There were no significant differences in forearm and fingertip temperatures or fingertip bloodflow among the four groups. CONCLUSION: There was no significant difference between AR and LR in the preservation of heat during either sevoflurane or isoflurane anesthesia. However, AR may be superior to LR for maintaining central temperature during the early period of isoflurane anesthesia.

PACS linked to EPR.

We developed a new PACS linked to Electronic Patient Record system (EPR). It was a hospital-wide PACS storing all the radiological examinations. The images and reports were linked on EPR. The concept of navigation servers and segment servers was introduced for prefetchig and quick displaying. After the start of operation, increasing retrieval indicated its effectiveness on practical work in spite of remaining delivery of radiographs.

[Primary carcinoma of the male urethra: a case report].

A case of primary carcinoma of the male urethra is reported. A 72-year-old male who complained of dysuria and a perineal mass, was admitted to our hospital in April, 1982. Irregularity and narrowing of bulbous urethra were detected on the urethrocystogram and the biopsied specimen from the perineal mass showed the histological findings of squamous cell carcinoma. Total penectomy, total cystectomy, construction of ileal conduit and pelvic lymphadenectomy were performed. The tumor, 10 X 6 X 5 cm in size, was located in the bulbous urethra and the histological diagnosis was well differentiated squamous cell carcinoma with no lymph node metastasis. In spite of postoperative administration of bleomycin, local recurrence appeared 3 months after operation and the patient died from disease progression in August, 1983. The age, histopathology, symptoms, past history, site of tumor, treatment and prognosis in 126 Japanese cases of primary male urethral tumor including the present case were reviewed. En bloc exenteration including resection of the inferior rami or pubic bone with chemotherapy and radiotherapy is recommended for advanced carcinoma of bulbomenbrous urethra.

[Staging urinary bladder cancer with dynamic MR imaging].

This article reviews the magnetic resonance (MR) staging of bladder cancer. The multiplanar and soft-tissue characterization capabilities of MR imaging make it a valuable diagnostic tool to image the urinary bladder. Recent advances of MR imaging such as fast imaging, pelvic phased array coil, and dynamic imaging improve the image quality and diagnostic accuracy for staging bladder cancer. Some patient-related factors are also important for optimal imaging of the urinary bladder, especially motion artifacts from the gastrointestinal tract and the degree of bladder distension. An anticholinergic agent should be used for suppressing the motion artifacts. Optimal bladder filling can be achieved by asking patients to void and drink water 1 hour before examinations. Scanning perpendicular to the bladder wall is necessary for optimal evaluation for staging bladder cancer. Oblique scanning is needed in cases when a tumor is not located on the dome, base, anterior wall, posterior wall, or lateral walls. The early phase image of dynamic imaging is most useful for staging tumors. Better contrast between tumor and bladder wall on dynamic images provides high staging accuracy, especially in differentiation between superficial tumors and tumors with muscle invasion. MR imaging is comparable to computed tomography (CT) in the evaluation of lymph nodes. Although MR imaging currently is not appropriate for screening for bladder cancer and detecting small tumors, it has been proved to be most useful in the staging of bladder cancer.

[Evaluation of renal intra-arterial digital subtraction angiography].

A total of 68 patients with renal abnormalities and potential donors were examined by intra-arterial digital subtraction angiography (IA-DSA). Compared with the conventional angiography, the advantages of IA-DSA are reduction of volume of contrast material and rate of injection. The image quality is superior to intravenous DSA. For the potential donors, IA-DSA has the same diagnostic value as conventional angiography to depict the number and position of renal arteries. IA-DSA is an effective method for screening hypertensive patients for renovascular disease. However, conventional angiography is necessary when evaluation of smaller intra-renal branch is desired. IA-DSA would be valuable for renal recipients because of good visibility by a smaller volume of contrast material. Another advantage of IA-DSA is the reduction of examination time. Embolization can also be done in a shorter time. Renal vein is easily detected by IA-DSA. Renal vein anomalies and obstruction are diagnosed in the left side without conventional venography. Renal IA-DSA can be replaced by conventional arteriography except when the delineation of tiny arterial change is desired.