R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome characterized by microcephaly, syndactyly of toes, ambiguous genitalia, and mental retardation. The underlying DHCR7 gene has been identified and a wide variety of distinct mutations were reported in USA and European SLOS patients. A significant difference has been suggested in the frequency of SLOS among different ethnic populations.

Surgery for ileal mesenteric lymphangioma during pregnancy: case report and review of the literature.

Mesenteric lymphangioma is one of the least frequently encountered types of benign tumor. This case report concerns a 31-year-old pregnant woman with a mesenteric cystic lymphangioma in the ileum. The multiloculated cystic mass was noted near the uterus by CT before the patient became pregnant.

Two cases of ileosigmoid knot: the youngest reported patient and CT findings.

Ileosigmoid knot is one of the causes of intestinal obstruction, but it is very difficult to make a correct preoperative diagnosis of the disease. This rare condition with high mortality is usually found in adult patients and has rarely been reported in children. We recently experienced two patients with ileosigmoid knot.

Successful treatment of bleeding due to ileal varices in a patient with hepatocellular carcinoma.

This case report concerns a 62-year-old female who was known to have cirrhosis. An endoscopic examination showed no evidence of haemorrhaging due to either oesophageal or gastric varices. Angiographic studies demonstrated extravasation from the ileal varices.

Combined spinal-epidural anesthesia for cesarean section; needle-through-needle approach.

Purpose: The Portex "Spinal/Epidural Set" is designed for combined spinal-epidural (CSE) anesthesia by the needle-through-needle approach. We evaluated the technical and clinical usefulness of CSE with this needle set, and also isobaric tetracaine, for cesarean section.

Methods: Thirty patients for cesarean section were included.

[Efficacy of respiratory-triggered fast spin-echo 3 dimensional-MR cholangiopancreatography on middle magnetic field MR imaging].

We compared the image quality of three-dimensional (3D) MR cholangiopancreatography (MRCP) and two-dimensional (2D) MRCP on middle magnetic field MR imaging, using a respiratory-triggered fast spin-echo technique in 10 volunteers and 69 patients suspected of having biliary and pancreatic diseases. The bile ducts (BDs) and main pancreatic ducts (MPDs) are, if dilatated, are almost always depicted by 3D-MRCP and 2D-MRCP. The depiction rates by 3D-MRCP of non-dilatated intrahepatic ducts (IHDs), hepatic ducts (HDs), common hepatic ducts, common BDs, cystic ducts (CDs) and MPDs were 57%, 90%, 95%, 95%, 100% and 77%, respectively.

[Efficacy of respiratory-triggered fast spin echo MR cholangiopancreatography on intermediate MR imaging].

MR cholangiopancreatography (MRCP) using a respiratory-triggered fast spin-echo technique was performed on intermediate MR imaging in 26 patients with suspected biliary disease. In almost all of 12 patients without dilated biliary tract, the hilum of the liver and extrahepatic bile duct were clearly visualized. All of 11 cases of cholelithiasis were demonstrated.