A dominantly inherited malformation syndrome with short stature,upper limb anomaly,minor craniofacial anomalies,and absence of TBX5 mutations: Report of a Thai family

We report on a Thai family with dominantly inherited malformation syndrome with upper limb anomalies, short stature, quadricuspid aortic valve, and minor craniofacial anomalies. The affected individuals comprised a mildly affected mother, a moderately affected daughter, and a most severely affected son. The daughter and son had short stature. The craniofacial abnormalities comprised frontal bossing, hypoplastic nasal bones, depressed nasal bridge, and broad nasal alae. The upper limb defects varies among the patients, ranging from radial ray defects in the mother through radial and ulnar ray defects with unilateral humeral hypoplasia in the daughter to radial ray defects with severe oligodactyly and bilateral humeral hypoplasia in the son. All patients in this family had hypoplasia of the shoulder girdle and resembled what is observed in many families with Holt‐Oram syndrome. Moreover, the son showed quadricuspid aortic valve with mild aortic regurgitation. However, the present family did not show any mutation of the TBX5 gene, a disease‐causing gene of Holt‐Oram syndrome. The present family deserves further investigation on other genes that play a role in the development of the upper limbs, particularly of radial rays. © 2002 Wiley‐Liss, Inc.     

Subarachnoid hemorrhage in systemic lupus erythematosus in Japan: two case reports and a review of the literature

We report 51- and 43-year-old Japanese female patients with systemic lupus erythematosus (SLE) associated with subarachnoid hemorrhage (SAH) due to rupture of intracranial saccular aneurysms. We also review the literature of Japanese SLE patients with SAH. SAH in Japanese SLE patients is more frequent than in patients from Western countries, has different features from the general population, and can occur regardless of SLE disease activity. Clinicians must pay attention to SAH in all SLE patients.     

Successful treatment with balloon dilatation using a double‐balloon enteroscope for a stricture in the small bowel of a patient with Crohn's disease

The requirement for endoscopic access to a stricture is a major limitation of the endoscopic dilatation for the treatment of strictures in the gastrointestinal tract. We have developed the double‐balloon enteroscopy method that enables visualization of the entire small bowel. In addition, double‐balloon enteroscopy has a potential for the interventional therapy including dilatation of strictures. We present here a case of jejunal strictures in a 47‐year‐old woman with Crohn's disease successfully treated with a balloon catheter in combination with double‐balloon enteroscopy. Balloon dilation with double‐balloon enteroscopy is a promising method for the treatment of small bowel strictures in Crohn's disease.     

Beta-blockers and primary prevention of coronary heart disease in patients with high blood pressure

We conducted a population-based, case-control study to determine whether beta-blockers, used for the treatment of hypertension, prevent first events of coronary heart disease. Cases were patients who had high blood pressure treated with medicines and who presented in 1982 to 1984 with angina or fatal or nonfatal myocardial infarction. Controls were a probability sample of health maintenance organization patients with pharmacologically treated hypertension and free of coronary heart disease. Blinded to case-control status, we reviewed the medical records of the 248 cases and 737 controls. The health maintenance organization's computerized pharmacy database was used to ascertain the use of beta-blockers. Fewer cases than controls were taking beta-blockers. This difference was confined to those with nonfatal infarctions. After adjustment for confounding, the estimated relative risk was 0.62 (95% confidence interval, 0.39 to 0.99). Higher doses of beta-blockers conferred greater protection. We conclude that beta-blockers may prevent first events of nonfatal myocardial infarction in patients with high blood pressure.     

A case of autoimmune hepatitis needed to be differentiated from EBV hepatitis, in that the histology of liver biopsy specimen was useful for diagnosis]

A 10-year-old girl with autoimmune hepatitis (AIH) was reported. She was admitted to our hospital because of cholestasis and elevation of liver enzymes for 2 months. Laboratory examination revealed that EBV-DNA copy number in the PBMNC (peripheral mononuclear cells) was 1.2 x 10(3) copies/microg of DNA, hypergammaglobulinemia, and positive antinuclear antibody, positive anti-smooth muscle antibody. The histology of her liver biopsy specimen revealed interface hepatitis, dense mononuclear cell infiltrates, mild fibrosis, and negative for EBV in situ hybridization assay indicating AIH and not EBV-associated hepatitis. She was treated firstly with methylprednisolone pulses, then will prednisolone p.o.+azathioprine p.o.. Intravenous cyclophosphamide pulse therapy was introduced because of her abnormal immune pathology. All abnormal laboratory parameters improved to normal levels within 2 months, and EBV-DNA copy number in the PBMNC became negative after 4 months. The histology of liver biopsy specimen was useful for the diagnosis of AIH in such a difficult case needed to be differentiated from EBV hepatitis.     

Development of a simple image viewer designed for small X-ray field CT equipment 3DX

Objectives To develop a simple image viewer that utilizes image files in general-purpose formats that are written from the original 3DX volume data. Methods We used FLASH MX2004 for Macintosh to develop a simple image viewer. In developing the software for the simple image viewer, we decided that the viewer should provide the following features: (1) be available to both Windows OS and Mac OS, (2) allow interlocking of the 3D images, (3) display image enlargement, and (4) allow distance measurements. The accuracy of the distance measurements was evaluated. Results The procedure was as follows: (1) write 3D images in jpeg format to a folder on i-VIEW; (2) place the folder containing the 3D images into the directory of the simple image viewer software on a PC; (3) start the software and open the window to input the folder name containing the 3D images; and (4) display the 3D images. Our viewer had features such as image enlargement, interlocking 3D images, drawing, and distance measurements. No significant differences were shown between the measurements made by our simple viewer and the actual values of the images in any direction. Conclusions Our image-viewing software for 3DX is beneficial for clinical use.     

Combined aortic valve replacement and coronary artery bypass grafting with in situ arterial grafts for porcelain aorta.

Patients with porcelain aorta carry a high risk of cerebral as well as systemic embolism during cardiac surgery. Here we describe a case of severe aortic stenosis and coronary artery disease combined with the circumferentially calcified aorta. The patient was a 77-year-old man who successfully received four coronary artery bypass grafts with in situ arterial grafts without clamping the aorta and aortic valve replacement. Aortic valve replacement and two distal coronary artery anastomoses to the left circumflex artery and obtuse marginal branch were performed under cardiac arrest during hypothermic perfusion with endoaortic balloon occlusion, followed by partial endarterectomy and closure of the aorta buttressed with bovine pericardium under deep hypothermic circulatory arrest. While rewarming, the other two distal coronary anastomoses to the left anterior descending artery and diagonal branch were done on the beating heart in order to minimize cardiac arrest time. On-pump beating heart coronary artery bypass grafting (CABG) can be useful especially for combined complex cardiac surgery.     

A clinical study of cerebral perfusion during pulsatile and nonpulsatile cardiopulmonary bypass

The purpose of this study was to determine the effect of pulsatile flow on cerebral perfusion under cardiopulmonary bypass (CPB). Twenty-three patients who underwent cardiac operations were divided into two comparable groups: Group A (N = 11) had standard nonpulsatile flow, while in Group B (N = 12), a pulsatile pump was used. The blood flow of left common carotid artery and radial arterial pressure were continuously monitored during cardiac operation in both groups and cerebral vascular resistance was calculated. In Group B, the perfusion pressure of left common carotid artery was monitored and compared with that of radial artery. Arterial and internal jugular venous blood were sampled and the difference of cerebral A.V O2 contents and cerebral oxygen consumption was calculated. Cerebral vascular resistance in Group B (54.0 +/- 11.2% of the value of before-CPB) significantly decreased compared to that in Group A (72.2 +/- 11%) at the end of CPB (p less than 0.05). Pulse pressure following pulsatile CPB flow was 15.1 +/- 5.8 mmHg monitored in radial artery and it reduced to 8.5 +/- 5 mmHg in left common carotid artery. Although there was no significant difference in cerebral oxygen consumption of both groups during and just after CPB, the difference of cerebral A-V O2 contents of Group B was greater than Group A just after CPB. These data suggest that pulsatile flow may minimize the cerebral microcirculatory shunt during CPB, resulting from the reduction of cerebral vascular resistance.