Michio Miyashita

Characteristics of earlier atherosclerotic involvement in adolescent patients with Kawasaki disease and coronary artery lesions: Significance of gray scale median on B-mode ultrasound

OBJECTIVE To test the hypothesis that textural changes in the carotid intima-media complex (IMC) detected by B-mode ultrasound are associated with the difference of remodeling process in earlier atherosclerotic involvement in patients with Kawasaki disease (KD) and coronary artery lesions (CALs). METHODS Eighteen patients with KD and CALs (mean age 17.2 years), 17 patients with heterozygous familial hypercholesterolemia (FH) (mean age 16.9 years) and 15 age-matched healthy controls (Cont) were assessed and compared for carotid intima-media thickness (CIMT), elastic property (E(p)), and first- and second-order statistics. RESULTS KD showed significantly higher gray scale median (GSM) than FH and Cont. KD and FH showed significantly higher CIMT, entropy and lower angular second moment than Cont, but no significant difference was found between KD and FH. CONCLUSION Higher GSM in KD may indicate alteration of tissue components and heterogeneity of IMC, suggesting the development of arteriosclerotic vascular remodeling after vasculitis. This is distinct from that of atherosclerosis with lower GSM often observed in FH.

Facial palsy associated with mumps parotitis.

Peripheral facial nerve paralysis is relatively common in the pediatric age group. However, facial palsy rarely has been documented in patients with mumps parotitis. This case report describes the findings of a 3-year-old Japanese boy who developed facial palsy immediately after mumps parotitis. This work calls attention to a possible association between mumps parotitis and facial palsy.

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence

BackgroundAndersons Disease (AD)/Chylomicron Retention Disease (CMRD) is a rare hereditary hypocholesterolemic disorder characterized by a malabsorption syndrome with steatorrhea, failure to thrive and the absence of chylomicrons and apolipoprotein B48 post-prandially. All patients studied to date exhibit a mutation in the SAR1B gene, which codes for an essential component of the vesicular coat protein complex II (COPII) necessary for endoplasmic reticulum to Golgi transport. We describe here a patient with AD/CMRD, a normal SAR1B gene protein coding sequence and maternal uniparental disomy of chromosome 7 (matUPD7).Methods and ResultsThe patient, one of two siblings of a Japanese family, had diarrhea and steatorrhea beginning at five months of age. There was a white duodenal mucosa upon endoscopy. Light and electron microscopy showed that the intestinal villi were normal but that they had lipid laden enterocytes containing accumulations of lipid droplets in the cytoplasm and lipoprotein-size particles in membrane bound structures. Although there were decreased amounts in plasma of total- and low-density lipoprotein cholesterol, apolipoproteins AI and B and vitamin E levels, the triglycerides were normal, typical of AD/CMRD. The presence of low density lipoproteins and apolipoprotein B in the plasma, although in decreased amounts, ruled out abetalipoproteinemia. The parents were asymptomatic with normal plasma cholesterol levels suggesting a recessive disorder and ruling out familial hypobetalipoproteinemia. Sequencing of genomic DNA showed that the 8 exons of the SAR1B gene were normal. Whole genome SNP analysis and karyotyping revealed matUPD7 with a normal karyotype. In contrast to other cases of AD/CMRD which have shown catch-up growth following vitamin supplementation and a fat restricted diet, our patient exhibits continued growth delay and other aspects of the matUPD7 and Silver-Russell Syndrome phenotypes.ConclusionsThis patient with AD/CMRD has a normal SAR1B gene protein coding sequence which suggests that factors other than the SAR1B protein may be crucial for chylomicron secretion. Further, this patient exhibits matUPD7 with regions of homozygosity which might be useful for elucidating the molecular basis of the defect(s) in this individual. The results provide novel insights into the relation between phenotype and genotype in these diseases and for the mechanisms of secretion in the intestine.

Characteristics of obese children with low content of arachidonic acid in plasma lipids

Background: Although there have been many studies on the relationship between obesity and long‐chain polyunsaturated fatty acid (LCPUFA), the results and their interpretation are controversial, especially in children. Arachidonic acid (AA), the product of n‐6 LCPUFA, is reported to be related to insulin resistance. The purpose of the present paper was to investigate the LCPUFA profile in obese children and mechanisms that contribute to reduced AA content.

Detection of myocardial contractile reserve by low-dose dobutamine quantitative gated single-photon emission computed tomography in patients with Kawasaki disease and severe coronary artery lesions

We studied 24 patients with severe coronary artery lesions to assess myocardial perfusion and left ventricular contractile reserve simultaneously using low-dose dobutamine quantitative electrocardiographically gated single-photon emission computed tomography in patients with Kawasaki disease. Low-dose dobutamine infusion was started after an injection of technetium-99m tetrofosmin at rest. Myocardial contractile reserve was evaluated using the post-stress and low-dose dobutamine images, and myocardial perfusion was evaluated using the stress and rest images. Quantitative electrocardiographically gated single-photon emission computed tomography during low-dose dobutamine infusion is a useful and safe method for the combined evaluation of myocardial contractile reserve and myocardial perfusion.

Quantitative Evaluation of Coronary Artery Wall Echogenicity by Integrated Backscatter Analysis in Kawasaki Disease

BACKGROUND Coronary artery wall echogenicity increases on echocardiograms during the acute phase of Kawasaki disease (KD). According to this background, echogenicity of the coronary artery wall in patients with KD is quantified by using integrated backscatter (IB) analysis. METHODS IB analysis is a quantitative method for evaluating echogenicity. We examined the value of IB in the wall of the left anterior descending coronary artery and compared it with that in adjacent intracardiac blood as a measure of background. The difference between these values is represented as corrected IB for the coronary artery wall. RESULTS Corrected IB for the coronary artery wall was higher in patients with KD than in controls (KD with pre-immunoglobulin therapy vs. controls: 27.4 +/- 5.3 dB vs. 22.0 +/- 3.5 dB, P < .05) and in patients with coronary enlargement after intravenous immunoglobulin (with vs. without coronary enlargement, 29.2 +/- 5.2 dB vs. 24.1 +/- 5.5 dB, P < .05). CONCLUSION The magnitude of IB from the coronary artery wall reflects the effectiveness of immunoglobulin therapy. Furthermore, this method and its value might be useful to predict the occurrence of coronary enlargement in patients with KD.

Assessment of individual changes in body fatness in boys during early pubertal period

Abstract Background : In order to know whether the changes in indexes of overweight, body mass index (BMI; kg/m2) and percentage of overweight (POW) (%), really represent the tendency toward obesity, we examined longitudinal individual changes in these indexes, and the change in body composition in boys during early pubertal period.

Dual myocardial scintigraphy mismatch in an infant with Bland-White-Garland syndrome

Bland-White-Garland syndrome (BWG) is a rare disorder that includes abnormalities of the coronary arteries that cause severe myocardial ischemia or infarction in infancy. In this case report, we describe an infant with BWG evaluated by dual single photon emission computed tomography using thallium-201 and I-123 beta-methyl-p-iodophenyl-pentadecanoic acid before and after surgery.

Concentrations of very long-chain fatty acid in whole blood are associated with cardiovascular risk factors in children

BACKGROUND Fatty acid metabolism has a close relationship with metabolic syndrome. Saturated very long-chain fatty acid (hexacosanoic acid; C26:0) was recently reported to be associated with cardiovascular risk factors in adults. METHODS Eighty-eight children (47 male, 41 female; average age, 10.9 y) participated in this study. Concentrations of C26:0 in whole blood were measured. RESULTS Compared with reported concentrations in the whole blood of adults, children had lower C26:0 concentrations, which had a close relationship with abdominal obesity, increased concentrations of low-density lipoprotein cholesterol and high blood pressure. C26:0 concentrations increased with increasing number of risk factors. CONCLUSIONS Elevation of C26:0 concentrations may be one of the metabolic features of children with cardiovascular risk factors.

Successful multiple coils embolization for bilateral patent ductus arteriosus with isolated subclavian artery

Gianturco coil embolization is commonly performed to close a patent ductus arteriosus (PDA). 1 – 3 Multiple Gianturco coils are often used for medium or large PDA. 4 Isolation of the left subclavian artery (ILSCA) in a patient with a right aortic arch with bilateral PDA is a rare abnormality. 5,6 No patient has been reported in whom multiple occlusion coils were deployed to both PDA. In the present paper we report a patient whose bilateral PDA with ILSCA were successfully occluded using multiple Gianturco coils.