Adult acampomelic campomelic dysplasia and disorders of sex development due to a reciprocal translocation involving chromosome 17q24.3 upstream of the SOX9 gene.

Balanced chromosomal rearrangements with a breakpoint located upstream of the sex determining region Y-box 9 (SOX9) gene on chromosome 17q24.3 are associated with skeletal abnormalities, campomelic dysplasia (CMPD), or acampomelic campomelic dysplasia (ACMPD). We report on a female patient with a reciprocal translocation of t (11; 17) (p15.4; q24.3), who was diagnosed with acampomelic campomelic dysplasia. The 34-year-old Japanese patient presented with distinct skeletal abnormalities, profound intellectual disability, and female phenotype despite the presence of Y chromosome and the sex determining region Y (SRY) gene. Her menarche started at 33 years and 4 months after hormone therapy of estrogen therapy followed by estrogen progesterone therapy. By conducting whole genome sequencing followed by Sanger sequencing validation, we determined the precise breakpoint positions of the reciprocal translocation, one of which was located 203 kb upstream of the SOX9 gene. Considering the phenotypic variations previously reported among the CMPD/ACMPD patients with a chromosomal translocation in the vicinity of SOX9, the identified translocation was concluded to be responsible for all major phenotypes observed in the patient.

A case of perforated multiple gastric duplication cysts with five-layered appearance on ultrasonography.

A case of perforated multiple gastric duplication cysts is presented. One of the gastric duplication cysts without perforation was seen on ultrasonography (US) with the following specific findings of gastric duplication cysts: a five-layered appearance, fold-like structures in the wall, and blood supply from the gastroepiploic artery. Other cysts with perforation presented with irregular and thin walls with a lack of the "double-wall sign" on US. These characteristic findings may be specific to perforated multiple gastric duplication cysts.

Initial experience of transcranial contrast-enhanced ultrasonography with Sonazoid in the evaluation of microvascular brain anatomy.

PURPOSE: The aim of this study is to visualize the microvascular anatomy of the brain parenchyma using transcranial contrast-enhanced ultrasonography (TCEUS) with Sonazoid. METHODS: TCEUS was performed in 14 subjects using the transtemporal and transnuchal approach (two patients with cerebral infarction and 12 healthy volunteers). An ultrasound system equipped with a 2- to 4-MHz sector probe set to coded phase inversion mode with a mechanical index of 0.4 was used. An intravenous bolus of Sonazoid (0.01 ml/kg) was injected. First-pass perfusion images were recorded from injection to 50 s after injection, and flush-replenishment (FR) images were recorded three times on both sides of the head from 1 to 5 min after injection. RESULTS: Real-time perfusion images of the brain parenchyma could be observed in all cases. At first pass, the main cerebral arteries began to be visualized at 10-20 s after injection, followed by the microvasculature at 15-30 s. The microvasculature reconstructed by the FR method could be observed on both sides of the head. CONCLUSION: TCEUS with Sonazoid allows effective, noninvasive evaluation of brain parenchyma microvasculature.

Decreased phagocytic activity of Kupffer cells in a rat nonalcoholic steatohepatitis model.

AIM: To investigate Kupffer cell dynamics and phagocytic activity, using a rat nonalcoholic steatohepatitis (NASH) model. METHODS: Male F344 rats were fed either a control diet or a choline-deficient L-amino acid-defined (CDAA) diet, followed by contrast enhanced ultrasonography (CEUS) using Levovist. The uptake of latex beads by the Kupffer cells was determined by fluorescent microscopy. The status of the Kupffer cells was compared between the two groups, using the immunohistochemical staining technique. RESULTS: After 4 or more wk of the CDAA diet, CEUS examination revealed a decrease in the signal intensity, 20 min after intravenous Levovist. Fluorescent microscopic examination showed that the uptake of latex beads by the Kupffer cells was reduced at week 1 and 2 in the study group, compared with the controls, with no further reduction after 3 wk. Immunohistochemical staining revealed no significant difference in the Kupffer cell counts between the control group and the CDAA group. CONCLUSION: CEUS examination using Levovist demonstrated reduced contrast effect and phagocytic activity in the liver parenchymal phase, although the Kupffer cell numbers were unchanged, indicating reduced phagocytic function of the Kupffer cells in the rat NASH model. We believe that CEUS examination using Levovist is a useful screening modality, which can detect NASH in fatty liver patients.

Ultrasound follow-up of infantile hypertrophic pyloric stenosis (IHPS) during conservative therapy: ultrasound findings as criteria for diagnosis and cure.

PURPOSE: During conservative therapy of infantile hypertrophic pyloric stenosis (IHPS) with atropine sulfate, there are many patients who do not achieve normal values of pyloric wall thickness and canal length even though they are clinically cured (vomiting has ceased); an objective criterion for cure has not yet been established. The aim of this study was to examine whether the appearance of pyloric wall stratification can be used as a criterion for cure. METHODS: Twenty infants with IHPS who were treated conservatively were enrolled. Two of them ultimately required surgery. Ultrasound examinations were done serially and the pyloric wall thickness and canal length were measured. The echogenicity of the pyloric wall and the presence of wall stratification were noted. RESULTS: On admission, all infants satisfied the ultrasound criteria for IHPS and had a heterogeneous pyloric wall without stratification. With conservative therapy, symptoms disappeared, the pyloric wall thickness and the canal length gradually decreased, the echogenicity gradually became homogeneous and hypoechoic, and wall stratification appeared (in most cases before the pyloric wall thickness and the canal length had normalized). The absence of wall stratification suggests that cellular interstitial changes, such as edema or inflammation, are present in the pyloric wall in the acute stage. CONCLUSION: Pyloric wall stratification was absent during the acute stage, but it appeared after initiation of treatment but before the pyloric wall thickness and the canal length had normalized. The presence of pyloric wall stratification can be used as a criterion for cure; the absence of wall stratification can be added to ultrasound diagnostic criteria for IHPS.

Long-term results of high-dose extracorporeal and endocavitary radiation therapy followed by abdominoperineal resection for distal rectal cancer.

PURPOSE: To examine the complications, local effects, survival, and prognostic factors of preoperative high-dose radiation therapy in patients with advanced carcinomas of the distal rectum. METHODS: Forty-one patients with tethered or fixed rectal cancer located a median distance of 3.0 cm from the anal verge were treated with extracorporeal and endocavitary radiation therapy (70 Gy), followed 2 weeks later by abdominoperineal resection (APR). RESULTS: This combined radiotherapy achieved acceptable results. Postoperative complications developed in 18 patients (43.9%), 10 (24.3%) of which involved perineal dehiscence. Two patients (4.8%) suffered more than grade 3 toxicity. Destructive changes were histologically confirmed in all specimens, and there were four (9.8%) sterile specimens. Recurrence developed in 11 patients and there were 6 cancer-related deaths. Among six cases of local recurrence, three were found just outside of the radiation field. The 5-year survival and disease-free survival rates were 82.9% and 71.8%, respectively. Multivariate analysis revealed that nodal involvement was the sole independent prognostic factor for survival. Sexual function was maintained in the most recent patients who underwent APR with autonomic nerve-preserving surgery. CONCLUSION: Although the original aim of our treatment focused on curability, this combination therapy may be an option for selected patients, because of potential prevention of local recurrence, relatively low morbidity, and promising autonomic nerve function.

Signal characteristics of FLAIR related to water content: comparison with conventional spin echo imaging in infarcted rat brain.

To examine the correlation between tissue water content and signal intensity on fluid-attenuated inversion recovery (FLAIR) images, we analyzed infarcted rat brain, verified the results by theoretical simulation, and compared them with conventional spin-echo images. We produced brain infarction with cavitation in five rats by middle cerebral artery occlusion. After in vivo MRI, histologic sections of the MRI plane were obtained. We measured the signal intensity of regions on FLAIR and spin-echo images, and measured the area of cavitation on histologic sections. We plotted curves of cavity percentage to signal intensity. Theoretical values were calculated using a two-compartment model. On the curve of cavity area to signal intensity, the signal on FLAIR images peaked in tissues with 20% to 30% area of cavitation. On the theoretical curve, the signal on FLAIR images peaked at 90% tissue water content. These results seem to be characteristic of FLAIR.

[Mechanical properties of biliary metallic stents: an experimental comparison].

PURPOSE: To assess the physical properties of biliary self-expandable metallic stents. MATERIALS AND METHODS: Six different types of biliary self-expandable metallic stents (Wallstent, ZA stent, Accuflex, S.M.A.R.T. stent, Spiral Z stent, and NT stent) were evaluated for the flexibility, trackability, and resistance of stent release for the introducer, and for repulsion force, flexibility, radial force, radio-opacity, and kink resistance for the stent. RESULTS: The Wallstent showed the best repulsion force, radio-opacity, and kink- resistance, while the ZA stent showed the best flexibility and trackability of the introducer and better radial force and radio-opacity. Accuflex showed the least resistance during stent release and better flexibility and radial force. The S.M.A.R.T. stent showed the largest radial force, and the Spiral Z stent showed better trackability of the introducer and better radio-opacity. The NT stent seemed to require overall improvement. CONCLUSION: The Wallstent appears preferable for placement in the extrahepatic bile ducts. The ZA stent can be applied for various approaches, but placement in comparatively straight bile ducts is preferable. With the Accuflex, insertion through routes where an acute angle exists should be avoided. In addition, balloon expansion before or after stent placement is preferable. The S.M.A.R.T. stent is placed in straighter intrahepatic bile ducts, while the Spiral Z stent should be placed through a straight approach. Balloon expansion before or after stent placement is preferable for the NT stent. No stent exhibited all of the ideal properties required. These results may contribute to the selection of biliary metallic stents.

Radiation-induced growth inhibition in transplanted human tongue carcinomas with different p53 gene status.

BACKGROUND AND PURPOSE: To test p53-dependency in radiation cancer therapy with X-rays (low-linear energy transfer (LET)) or carbon-ion (C-) beams (high-LET heavy ion), we analyzed the radiation-induced growth rate and apoptosis induction in human tongue carcinomas transplanted into nude mice. MATERIALS AND METHODS: The SAS cells transfected with mutant p53 gene (SAS/mp53) or a neo control gene (SAS/neo) were transplanted into the thigh of each nude mouse. By measuring the tumor weight (TW), tumor regrowth delay was evaluated when the relative tumor weight (RW) reached 5-fold that of the control group. Apoptosis was analyzed by immunohistochemical and ApopTag stainings. RESULTS: SAS/mp53 tumors were more resistant to X-ray irradiation than SAS/neo tumors, but not to C-beam irradiation. The relative biological effectiveness (RBE) of C-beams compared to X-rays was 2.1 in SAS/neo tumors and 2.6 in SAS/mp53 tumors. Apoptotic cells were more frequently observed in SAS/neo tumors than in SAS/mp53 tumors in X-ray irradiation but not in C-beam irradiation. CONCLUSION: The radiation-induced growth inhibition of transplanted SAS cells is suggested to be p53-dependent in X-ray irradiation but not in C-beam irradiation. C-beams are proposed as being useful for cancer radiation therapy regardless of p53 gene status.

[FDG-PET on the day after first chemotherapy in malignant lymphoma].

Positron emission tomography using 18F-fluorodeoxyglucose (FDG-PE) was performed in four patients with non-Hodgkin's lymphoma on the day after initial chemotherapy, in an attempt to predict the effects of chemotherapy earlier than standard methods. Twelve regions displaying intense uptake on baseline FDG-PET were selected, and decreases in the rate for each region were calculated from standardized uptake values on the day following chemotherapy. Seven of the 12 regions demonstrated decrease rates of 60% or more, and two decreased by 100%. This study indicates that FDG-PET on the day after first chemotherapy seems to reflect the effect of chemotherapy on malignant lymphoma.

Qualitative diagnosis of hepatocellular carcinoma by contrast enhanced ultrasonography using Coded Harmonic Angio with Levovist.

We attempted to evaluate diagnosis and characterization and to access therapeutic effects in cases of hepatocellular carcinoma (HCC) by contrast enhanced ultrasound (CEUS) using Coded Harmonic Angio (CHA) with Levovist, an intravenous ultrasound contrast agent. Fifty-seven HCC foci in 39 patients, including 37 HCC foci in 28 patients before and after transcatheter arterial chemoembolization or radio frequency ablation, were examined by CEUS using the CHA mode, which is under development. This mode uses digitally encoded pulse sequences that identify and suppress nonmoving tissue signals and enhance contrast signals from Levovist in a gray-scale format. In all cases, abundant tortuous intratumoral blood flow was visualized in the early vascular phase by continuous transmission, while tumor stain was recognized by consecutive 1-to-2 second intermittent transmission. Residual tumor area after treatment was also clearly depicted by intratumoral blood flow and partial enhancement. CEUS using CHA with Levovist is likely to become important in the qualitative diagnosis of hepatic tumor and to improve the efficacy of treatment for HCC.