Gene polymorphism of myospryn (cardiomyopathy-associated 5) is associated with left ventricular wall thickness in patients with hypertension.

We examined a gene polymorphism of a novel Z-disc-related protein, myospryn (cardiomyopathy-associated 5). We focused on one haplotype block associated with a tag single nucleotide polymorphism (SNP) that covered 16 of 27 coding SNPs with linkage disequilibrium (minor allele frequency 0.413). Screening a myospryn polymorphism (K2906N) in a general health check-up of a rural Japanese population revealed an association with cardiac diseases (p=0.0082). In further analysis of the interaction between K2906N and cardiac function in patients, K2906N was associated with the anteroseptal wall thickness of the left ventricle in a recessive model (p=0.0324) and with the ratio of the peak velocity of the early diastolic filling wave to the peak velocity of atrial filling (A/E) (p=0.0278). In an association study based on left ventricular wall thickness, we found a significant difference in the K2906N genotype between controls and patients with cardiac hypertrophy. These results suggest that the K2906N polymorphism could be clinically associated with left ventricular hypertrophy and diastolic dysfunction independent of known parameters. Although the precise mechanism underlying this association remains to be elucidated, treatment with angiotensin II induced an increase in heart myospryn mRNA level in vitro and in vivo. Our results suggest that the polymorphism of myospryn is associated with left ventricular hypertrophy, and an association between a Z-disc protein and cardiac adaptation in response to pressure overload.     

PEUTZ‐JEGHERS SYNDROME ASSOCIATED WITH RENAL AND GASTRIC CANCER THAT DEMONSTRATED AN STK11 MISSENSE MUTATION

A 75‐year‐old male was admitted to the gastroenterology unit of Nagoya City University Hospital due to epigastralgia after surgical treatment for right renal cancer. Endoscopy revealed advanced type 1 gastric cancer in the corpus of the stomach and multiple polypoid lesions in the stomach and duodenum. X‐ray examination of the small intestine using barium showed multiple polyps in the upper jejunum. Faint pigmentation on the palm was also detected. Peutz‐Jeghers syndrome (PJS) was diagnosed, despite a lack of family history. Total gastrectomy, resection of part of the upper jejunum and intraoperative endoscopic polypectomy of duodenal polyps was performed. This is the second reported case of PJS associated with renal cancer. We also detected a missense mutation in the tumor suppressor gene STK11 that, when mutated, is causative for PJS.     

EUS IN THE DIAGNOSIS OF ULCERATIVE COLITIS

The ultrasonograms of ulcerative colitis (UC) in active stage show hypoechoic changes of the colorectal wall from the mucosal layer to the deeper layers. These endoscopic ultrasound (EUS) changes of the wall recognized in active stage disappear or normalize in the stage of remission. When the stage of UC is exacerbated, the hypoechoic changes of the wall extend from the mucosal layer to the deeper layers with the increase of wall thickness. These EUS images of active UC are classified into the following types: UC‐M, thickening of the whole wall with the structure preserved; UC‐SM, hypoechoic changes reach the superficial portion of third layer with the thickening of whole wall; UC‐SM deep, hypoechoic changes reach the deeper portion of third layer with the thickening of whole wall; UC‐MP, hypoechoic changes reach the fourth layer with the thickening of whole wall; UC‐SS/SE, hypoechoic changes penetrate through the fourth layer with the thickening of whole wall. With the help of EUS we can demonstrate the severity of inflammation in UC. Moreover, in severe cases of UC, the treatment strategy including emergency surgery can be determined. EUS is a valuable method in the management of UC.     

Hydrops Fetalis Caused by Fetal Kasabach-Merritt Syndrome

There have been only 2 previous reports of nonimmunologic hydrops fetalis (NIHF) caused by fetal Kasabach-Merritt syndrome, both of which were pathological studies. This is the first clinical case report of NIHF due to fetal Kasabach-Merritt syndrome that was prenatally diagnosed by sonography, computerized tomography, and percutaneous umbilical blood sampling.     

Contrast-enhanced intraoperative ultrasonography of small hepatocellular carcinomas

Nine patients with small hepatocellular carcinomas, ranging up to 2 cm in size (phi: 1.7 +/- 0.2 cm, mean +/- SD), have been encountered, and in two of these patients the cancer was not identifiable by intraoperative ultrasonography. Thus to achieve a better detection of such small hepatic cancers, enhanced intraoperative ultrasonography was tested. Detection by enhanced intraoperative ultrasonography proved successful in all cases. These preliminary results indicate the potential of carbon dioxide as a contrast agent to enhance intraoperative visualization of small liver cancers.     

Accommodative intraocular lens with spring action. Part 1. Design and placement in an excised animal eye

We designed an intraocular lens (IOL) with spring action, which we call the Spring IOL, with the idea of providing a slight but adequate accommodative power. The Spring IOL consists of two 6.0-mm optics, held 4.38 mm apart, and four flexible loops. The optics are made of polymethylmethacrylate (PMMA) and the loops of polyvinylidene fluoride. The lens's refractive power is provided by the anterior optic; the posterior optic acts as a footplate to restrict the anteroposterior movement of the anterior optic. By torsionally compressing the obliquely arranged loops, a 10.0-mm 3-dimensional IOL can be reduced to 6.0 mm and inserted in the capsular bag through a 3.5-mm capsular opening. Because the Spring IOL is made of the same materials as conventional IOLs, most of the problems hindering the development of a refilling material (which could also provide accommodation) are avoided. In this first report we discuss the design of the lens, the refractive theory involved, and our experience inserting it in an excised animal eye.     

Bacteroides fragilis Pyomyositis in a Patient with Multiple Myeloma

Pyomyositis is a bacterial infection with abscess formation affecting large skeletal muscles. It is predominantly caused by Staphylococcus aureus. The disease is common in tropical areas, but rare in temperate climates. We report a patient with multiple myeloma who developed a giant elastic tumor on the right thigh and a hen egg-sized tumor on the right upper arm. MR imaging revealed cystic spaces in the femoral quadriceps and brachial biceps muscles. A large amount of pus with foul smell was removed by incision, drainage and aspiration of the two tumors. The lesions were successfully treated with intravenous administration of antibiotics. Repeated bacterial cultures yielded only Bacteroids fragilis. To our knowledge, this is the first report of pyomyositis due to Bacteroides fragilis.     

Developmental toxicity potential of grayanotoxin I in mice and chicks

Developmental toxicity potential of grayanotoxin I (GTX I), a toxic diterpenoid contained in plants of the family Ericaceae, with sodium ionophore activity, was studied in mice and chicks. In mice, intraperitoneal injections of 1.5 mg GTX I/kg body weight of mouse for three consecutive days during the organogenetic period caused some dams to die, but neither embryotoxicity nor teratogenicity was detected. In chicks, a single injection of 0.1-1.0 microgram GTX I per egg into the extraembryonic coelom on day 1.5 or 2 of incubation, or into the amnionic cavity on day 3 or 4 of incubation induced neither embryotoxic nor teratogenic signs, but 10 micrograms GTX I per egg showed lethal effects when applied on each of those days.     

Maffucci’s syndrome associated with spindle cell hemangioendothelioma

 The case of a 49-year-old man with Maffucci’s syndrome, who developed multiple spindle cell hemangioendotheliomas, is presented. The case provides support for recent reports suggesting an association between this peculiar vascular lesion and skeletal enchondromatosis.