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The association between polymorphisms in the vitamin D receptor (VDR) gene and bone mineral density (BMD) has been studied by many investigators. However, the question of how polymorphisms in the gene modulate the function of the VDR remains to be answered. To address this issue, we examined the mRNA levels of the VDR in relation to polymorphisms. First, we compared the levels of mRNA between the allele with the polymorphic TaqI-digestive site (t) and nondigestive site (T) located at exon 9 of the VDR gene determined by reverse transcription-polymerase chain reaction (RT-PCR). Total RNA was extracted from peripheral mononuclear cells in volunteers whose genotype is Tt. After the amplification of cDNA by PCR, the amplified fragments were digested by TaqI. The digested (t) and undigested (T) fragments were visualized by ethidium bromide and semiquantified by an image analyzer. In 24 subjects, the mRNA levels of allele t were significantly higher than those of allele T (1.35 fold, P0.001). Second, the VDR mRNA levels were estimated by competitive RT-PCR in 60 healthy subjects (35TT, 24Tt, 1 tt). The competitive template was 47 bases shorter than the product of the wild-type gene. After RT-PCR, the mRNA level was determined by a comparison with the competitive fragments. No significant difference in the mRNA level was observed between two groups (1.75 +/- 0.84 and 1.65 +/- 0.99 10(-13)mol/g total RNA in TT and Tt, respectively). In addition, no significant relationship was observed between the VDR mRNA levels and BMD in the 23 subjects whose BMD data were available. In conclusion, higher mRNA levels of allele t than T were detected, but the difference did not result in higher levels of VDR mRNA in subjects with the Tt genotype compared to those with the TT genotype.

Die Anwendbarkeit der Bestimmung von 17-Hydroxyprogesteron (17-OHP) im Speichel zur Kontrolle der Behandlung des angeborenen adrenogenitalen Syndroms (AGS) infolge C21-Hydroxylase-Defektes wurde untersucht. 17-OHP im Speichel wurde mit Hilfe eines spezifischen Radioimmunoassay nach Extraktion mit Dichlormethan bestimmt. Die Menge von extrahiertem Speichel fur den Assay war mit 100 µl gering. Zwischen den Bestimmungen von Speichel- und Serum-17-OHP-Konzentrationen, die an gepaarten Speichel- und Serumproben (11 angeborene Nebennierenhyperplasien und 6 normale Kontrollpersonen) durchgefuhrt wurden, zeigte sich eine gute Korrelation (r = 0,93; P

Little information is available about the dilatation mechanism in children. This prospective study aimed to (1) evaluate the dilatation mechanism of balloon angioplasty in children with arterial stenosis, and (2) compare the morphological changes seen by intravascular ultrasound (IVUS) and angiography.Twenty consecutive patients, who had undergone a total of 23 procedures, were examined before and immediately after balloon angioplasty with a 4.3 Fr, 30 MHz rotational tip IVUS system. The lesions for IVUS study had resulted from coarctation of the aorta in six patients, pulmonary arterial stenosis in five, Blalock-Taussig shunt stenosis in three, subclavian artery stenosis in two, renal artery stenosis in two, coronary artery stenosis in one and ductus arteriosus in one.Four distinctive morphological types were identified: type I with arterial stretching, type IIa with superficial tearing, type IIb with deep intimal-medial tearing, type III with flap formation, and type IV with dissection. The diameter of the narrowest site before and after balloon angioplasty increased significantly from 2. 1 +/- 1.4 mm to 4.6 +/- 3.4 mm (p0.001). Eighteen of the 23 angioplasty procedures (78%) were considered to be successful, with a dilatation ratio of more than 50%. In most patients with successful dilatation, non-stretch mechanisms such as tearing, flap formation, or dissection were found. The positive percent (70%) of non-stretch mechanisms seen by IVUS was significantly higher than the positive findings (39%) by angiography (Chi2 = 6.47, p0.02).Non-stretch morphology of the arterial wall may be a common mechanism of dilatation after balloon angioplasty in children with arterial stenosis. IVUS is a useful modality for evaluating the effectiveness of balloon angioplasty and the mechanism of dilatation in individual cases.

Mucosal damage is commonly observed in food-sensitive enteropathy in infants, and the generation of leukotrienes is involved in the pathogenesis of this enteropathy. Because supplementing n-3 fatty acids is known to modify the production of leukotrienes, we investigated whether a change of dietary fatty acid composition affects leukotriene synthesis and food hypersensitivity reactions in the intestine by using a mouse model of food-sensitive enteropathy. The model was prepared by feeding ovalbumin to BALB/c mice after intraperitoneal injection of cyclophosphamide. Diets were prepared from soybean oil (control), perilla oil, lard, corn oil, and 0.125 volume of corn oil (low fat diet) and given to mice for 4 wk. Villous heights, crypt depths, leukotriene B4 and C4 production in the intestine were measured. Crypt hyperplasia and villous atrophy were severer in the corn oil-fed group than those of control group, whereas mucosal damage in the perilla oil and low fat diet groups was minimal. In the corn oil-fed group, red blood cell membrane levels of n-3 fatty acids were lower than the control, and the synthesis of leukotrienes was highest among all groups. In the perilla oil and low fat diet groups, n-6 fatty acids were lower than those of control group and leukotriene production was significantly suppressed. These results indicate that reducing cell membrane levels of n-6 fatty acids by feeding less n-6 fatty acids or supplementing n-3 fatty acids, is important to suppress leukotriene biosynthesis for prevention from mucosal damage in food-sensitive enteropathy.

Background: Both intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1) have been implicated in cardiac allograft rejection. However, there is little information about the relationship between the expression of these adhesion molecules and myocarditis in children. Methods and Results: Immunoreactivities of ICAM-1 and VCAM-1 were examined by enzyme immunoassay in 31 biopsy specimens obtained from 11 pediatric patients with biopsy-proven myocarditis or cardiomyopathy. Five of the 11 patients had clear evidence of acute myocarditis. The other 6 had ECG abnormalities identified by mass screening for heart disease, and subsequently had been histologically diagnosed as having non-specific cardiomyopathy. The period between onset of myocarditis or identification of ECG abnormality and immunohistochemical studies was 23 to 60 days and 8 months to 3 years, respectively. Expression of ICAM-1 and VCAM-1 was assessed by counting ICAM-1- and VCAM-1-positive vessels and dividing by the total number of vessels. ICAM-1 was significantly present on 81% ( P

A 15-year-old boy with hypertrophic cardiomyopathy died of congestive heart failure with progressive left ventricular wall thinning with poor systolic function. Microscopic examination revealed patchy fibrosis in the ventricular myocardium with wall thinning, and immunohistochemical evaluation of apoptosis showed apoptotic cells and bodies in the destroyed myocytes along the border between the fibrotic area and myofibril.

我々の施設にて経皮的腎血管形成術 (percutaneous transluminal renal angioplasty: PTRA) を施行した小児の腎血管性高血圧症4例の臨床的検討を行った。このうち2例 (2歳男児および10歳女児) は血管病変を来たしうる基礎疾患はなくPTRA施行後は服薬の必要なく正常血圧が維持されている。高安病による13歳女児では，PTRAの効果は一時的で，現在，降圧剤投与や基礎疾患の治療で血圧をコントロールされている。モヤモヤ病に合併した5歳男児では，PTRA施行中，病変血管の攣縮により有意な拡張は得られなかったが，いずれの症例においても重篤な合併症はなかった。 以上よりPTRAは小児に対しても安全で，繰り返し施行でき，侵襲性が低いといった長所を考慮すれば，基礎疾患の有無に関わらず，積極的に試みる価値があると思われた。

A boy with multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy is described. Light microscopy of biopsy samples from the skeletal muscle and myocardium revealed multiple cores in the muscle fibers in the former but their absence in the latter. These results suggest that the pathogenesis of the histologic changes might differ between skeletal muscle and myocardium, and that further electron microscopic examination be done on both types of specimen. The prognosis of multicore myopathy is not usually good when cardiac involvement is present.

Kawasaki disease (KD) is an acute febrile illness of early childhood. Although the epidemiology of KD suggests an infectious agent, the cause still remains unknown. Intense immune activation during the acute disease has been well documented. Quantitative determination of soluble CD23 in serum can serve as an index of macrophage/monocyte or B-cell activation. To further characterize the immunological profile in KD, we investigated whether soluble CD23 levels in serum increase during the acute disease. In addition, we compared soluble CD23 levels in 33 patients with acute KD with levels in ten patients each with measles, rubella, infectious mononucleosis, and scarlet fever to determine if marked elevations in soluble CD23 were unique to acute KD. Patients with KD, rubella and infectious mononucleosis, but not patients with measles or scarlet fever, had increased soluble CD23 levels in serum during the acute stage, as compared to age-matched control subjects (P

To assess the influence of gonadal steroid testosterone (T) on bone mineral status in males during puberty, we observed the response of cortical bone density and serum biochemical parameters of bone metabolism to T treatment in 12 adolescent patients with hypogonadotropic hypogonadism (11 with both gonadotropin and growth hormone deficiency and one with isolated gonadotropin deficiency). The 12 patients aged 15 to 21 years (Tanner stage I to II) were divided into two groups: group 1 (n = 6) given T treatment for 2 consecutive years, and group 2 (n = 6) without T treatment for the first year and then with T treatment for the second year. Cortical bone density measured in the radius was less than the age-matched mean value for normal subjects in all 12 patients (groups 1 and 2) at the start of the study. Bone density in group 1 increased significantly during the 2-year T treatment period, but did not increase in group 2 during the first year without T treatment, although an increase was observed during the subsequent year with T treatment. Among circulating biochemical factors such as osteocalcin, parathyroid hormone (PTH), 25-hydroxyvitamin D (25-OHD), and 1,25-dihydroxyvitamin D [1,25-(OH)2D], only osteocalcin showed an increase in response to T treatment in both groups. Levels of insulin-like growth factor-I (IGF-I) remained consistently low and did not change in any patients except one with isolated gonadotropin deficiency. These data indicate that the impaired mineralization due to T deficiency during puberty may be reversed to some extent by extrinsic T replacement even after puberty, and that T exerts effects on bone tissue directly even in the absence of systemic growth hormone and IGF-I.

There is little information on the indications for balloon dilation angioplasty for aortic coarctation. To determine the indications for balloon dilation in aortic coarctation, we evaluated prospectively the outcome of children treated according to our therapeutic protocol. The protocol included patients with postoperative recoarctation and isolated native coarctation with risks for surgical repair as conditions for which balloon intervention was absolutely indicated, and native coarctation without a significant arterial duct as a condition possibly qualifying for balloon dilation. Patients with duct-dependent coarctation and diffuse hypoplasia of the aortic arch were not considered to require balloon intervention and were treated surgically. We entered 47 patients into this protocol between January 1988 and December 1993. In 21, dilation was performed successfully and provided significant relief of pressure gradients. The peak systolic pressure gradients across the coarcted site in native coarctation and postoperative recoarctation decreased significantly from 40±19 to 13±10 mm Hg (p

Ovarian follicular cysts were diagnosed antenatally or postnatally by routine obstetric ultrasound scanning in 7 infants. In 5 of them the serum levels of estradiol (E2), insulin-like growth factor-I (IGF-I), osteocalcin and other hormones were measured serially after birth for almost one year. The patients' growth and skeletal maturation were also assessed. The elevated serum E2 levels (242-8, 300 pg/mL) in cases with ovarian cysts fell after cystectomy/cyst aspiration or conservative management, but their serum E2 levels remained high compared with those of control infants for 1-5 months. The IGF-I and osteocalcin serum levels of some patients were also relatively high. Furthermore, a tendency to growth acceleration during early infancy and advancement of skeletal age were each observed in two patients.Our present observations suggest that neonatal ovarian cysts associated with elevated serum E2levels during early infancy may affect the statural growth and bone maturation of female infants.

We have studied the presence of anti-neutrophil cytoplasmic antibodies (ANCA) in 16 patients with Henoch-Schönlein purpura (HSP) and 10 patients with immunoglobulin A nephropathy (IgAN). An indirect immunofluorescence test using ethanol-fixed neutrophils as a source of antigen and an enzyme-linked immunosorbent assay using purified proteinase-3 and myeloperoxidase as antigens were used. Neither immunoglobulin G nor immunoglobulin A (IgA) ANCA were found in any of the patients studied. It was shown that fluorescein-isothiocyanate conjugated anti-human IgA antibodies bound to ethanol-fixed normal human neutrophils non-specifically, suggesting the possibility that false positive staining was responsible for the previous reports. We conclude that ANCA does not play an important role in the pathogenesis of HSP and IgAN.

Fecal IgE levels were investigated in 165 asymptomatic infants at 1 month of age under two nutritional regimens, breast-feeding and formula feeding, and the possibility of predicting by fecal IgE levels the onset of atopic disease was studied in these infants. IgE levels were measured by time-resolved fluoroimmunometric assay. IgE antibodies are detectable in fecal extracts, and we have already reported that IgE levels are increased in food-allergy patients after administration of food allergens, and this increase in fecal IgE levels may be a specific consequence of the local immune response to food-allergen stimulation in the gut mucosa. The presence of atopic disease and the feeding method during the nursing period were surveyed by questionnaire in 89 of these 165 infants when they were 18 months old. In an analysis of the present results, IgE values above 0.015 U/ml, the lower limit of measurement, were considered to be high. Forty-eight (29%) of the 165 subjects showed a high fecal IgE level. Thirty-seven (35%) of 105 formula-fed infants had high fecal IgE levels, whereas only 11 (18%) of 60 breast-fed infants had high levels (P

In order to clarify the mechanisms of food-sensitive enteropathy, a food hypersensitive model was generated by feeding ovalbumin to female BALB/c mice after intraperitoneal injection of cyclophosphamide and morphological and immunological changes in the gut mucosa were investigated. Villus atrophy, crypt hyperplasia and increased numbers of intra-epithelial lymphocytes (IEL) were confirmed in this model, as seen in food-sensitive enteropathy in humans. Subpopulations of IEL and lamina propria lymphocytes were enumerated by immunohistochemical observation. CD8-positive cells were increased both in epithelium and lamina propria, whereas CD4-positive cells were decreased in lamina propria. We document here that orally administered food antigen actually induces food-sensitive enteropathy and mucosal damage is generated by lymphocytes that infiltrate the intestinal mucosa. We also investigated the effect of feeding an omega-3 fatty acid-enriched diet in this model and found that it was efficient in attenuating mucosal damage.

We have investigated angiographically and histologically the vascular response to implantation of intravascular stents in normal puppies. Eight balloon-expandable stents were placed in six mongrel puppies (weight 6.4–10.5 kg) under anesthesia. Four stents were successfully placed in the pulmonary arteries and three in the aorta. In one case, the strut of the stent was hooked by a leaflet of the tricuspid valve at the time of placement and eventually had to be implanted in the inferior caval vein. Two puppies died, one from bleeding from the femoral artery and the other from thrombotic obstruction at the superior mesenteric artery, both after successful implantation. The former was due to repeat arterial puncture and the latter wasdue to failure to use aspirin. Angiographic studies showed satisfactory opacities of the branch arteries in all but one puppy. The diameter of the arteries prior to implantation was 7.5±1.5 mm. The diameters at the middle of the stents immediately after implantation and during the period of follow-up were 6.9±1.7mm and 6.9±2.1 mm, respectively. Histologic studies revealed that neogenic endothelial layers of 30 to 40 pm in thickness had formed over the struts of the stent without formation of thrombusthree weeks after implantation. Scanning electron microscopy revealed that the endothelial cells of the neoendothelial layer had almost identical characteristics to those of normal arteries. These results indicate that clinical application of this stent is feasible but that use of anticoagulants is mandatory during and after implantation in the treatment of selected patients with aortic coarctation or pulmonary arterial stenosis. Relative progression of stenosis may occur, however, and the inability for re-expansion is a major disadvantage of this stent.

We compared the efficacy of oral administration of pentoxifylline (PTX) and intravenous infusions of gamma globulin (IVGG) combination therapy with that of IVGG in reducing the frequency of coronary-artery lesions (CAL) in children with Kawasaki disease (KD), in a randomized trial. All patients with KD received acetylsalicylic acid (30 mg/kg per day), until the 30th day, after the onset of fever, followed by daily acetylsalicylic acid at a dose of 3-5 mg/kg per day there-after, and intravenous IVGG, 200 mg/kg per day, for 5 consecutive days. In addition, patients randomly assigned to PTX and IVGG combination therapy groups received oral PTX at a dosage of 10 mg/kg per day (low-dose) or 20 mg/kg per day (high-dose), in three divided doses until the 30th day. Patients with KD were all free from CAL prior to treatment. We assessed the presence of CAL by two-dimensional echocardiography which was also done prior to treatment and then twice a week after hospital admission. We detected CAL in 3 of 18 patients (16.7%) in the IVGG therapy group, as compared with 2 of 18 patients (11.1%) in the low-dose PTX and IVGG combination therapy group. There were no significant difference between the two groups. In the next study, we detected CAL in 3 of 21 patients (14.3%) in the IVGG therapy group, as compared with none of 22 patients (0%) in the high-dose PTX and IVGG combination therapy group (chi 2 = 6.4, P0.02). No adverse side-effects were observed in 79 patients with KD.(ABSTRACT TRUNCATED AT 250 WORDS)

We report a 2-year-old boy with renovascular hypertension caused by stenosis of the left renal artery that was successfully treated by percutaneous transluminal angioplasty (PTA). He initially presented with severe hyponatremia, hypokalemia, polyuria, transient proteinuria and weight loss. This phenomenon is known to occur in patients with renovascular and malignant hypertension, called hyponatremia hypertensive syndrome, but was thought to be rare in children. Renovascular hypertension should be considered as a cause of hyponatremia in children. In addition, PTA is an appropriate treatment even in very young children with renovascular hypertension.

In order to clarify the effect of early androgen exposure on subsequent growth, we observed growth and pubertal development for 12 years in a girl after successful resection of a virilizing adrenocortical adenoma at 11 months of age. Analysis of growth showed no catch-down of linear growth, and acceleration of growth continued for 1 year after surgery. Pubertal development including adrenarche occurred at an appropriate age (menarche; 11 years 7 months), and a normal pubertal growth spurt (peak height velocity: 8.5cm/year) was observed. Therefore the final height of the present patient is not compromised.

IgE levels in faecal extracts (Copro-IgE levels) were investigated in food allergy (FA) patients before and after the challenge test administration of food allergens. IgE levels were measured by time-resolved fluoroimmunometric assay. In addition, the effects of administration of oral sodium cromoglycate (SCG) on the Copro-IgE levels were studied. Copro-IgE levels in patients with FA, who were placed on an elimination diet, did not differ from those of healthy children. After a challenge test immediate symptoms of urticaria and wheezing were observed in all FA patients. Copro-IgE levels in each patient increased markedly within 24 h of the challenge test. Moreover, FA patients treated orally with SCG showed neither the increase in Copro-IgE levels nor any remarkable symptoms after the challenge. Our results suggest that the increased Copro-IgE levels may be a specific consequence of the local immune response to food allergen stimulation in the gut mucosa.

In order to clarify the metabolism of bile acids in neonates, 1 beta-hydroxylated bile acids in the urine of healthy newborns were examined by gas chromatography-mass spectrometry. The results showed that the percentage of total 1 beta-hydroxylated bile acids, 3 beta, 12 alpha-dihydroxy-5-cholenoic acid and hyocholic acid in neonates was significantly higher than in older children. The ratio of 1 beta-hydroxylated bile acids to their comparable primary bile acids was also higher in neonates than in older children. These results suggest that 1 beta- and 6 alpha-hydroxylation of bile acids are the predominant pathways of bile acid metabolism in neonates.

Recently it has been reported that naturally occurring inhibitors of tumor necrosis factor alpha (TNF-alpha) were demonstrated in urine of some acute febrile patients. We investigated whether TNF-alpha inhibitory activity in urine increases during acute Kawasaki disease (KD). TNF-alpha inhibitory activities in urine were measured by a cytotoxicity assay on the TNF-susceptible cell line L929. KD patients had increased TNF-alpha inhibitory activities in urine during the acute stage and returned to a normal range during the convalescent stage. Our results suggest that the TNF-alpha inhibitor in urine is part of the regulatory system of TNF-alpha, which might be responsible for vascular injury during acute KD.

Endothelin (ET) is a potent vasoconstrictor peptide with an as yet uncertain physiological role in cardiovascular disease. We measured blood plasma ET concentrations using a recently developed radioimmunoassay and analysed the relations between ET concentration, systemic arterial pressure and systemic vascular resistance. In addition, ET levels before and after percutaneous balloon valvuloplasty and angioplasty were measured. Fifty-one patients were studied: (1) 13 patients with small left-to-right shunting or Kawasaki heart disease (age ranged from 4 to 144 months); (2) 10 patients who had undergone ballon valvuloplasty or angioplasty (age ranged from 1 to 233 months) and (3) 28 healthy infants and children (age ranged from 3 to 152 months). Systemic vascular resistance was calculated by the formula (mean aortic pressure — mean right atrial pressure) X 80/cardiac output (dyne·sec·cm−5). Plasma ET concentrations in healthy children less than 2 years were significantly higher than those over 2 years (2.48±0.62 vs 1.31±0.53 pg/ml). In eight patients in groups 1 and 2, plasma ET concentration in the pulmonary artery (2.00±0.43 pg/ml) was significantly lower than that in the femoral vein (2.39±0.69 pg/ml) and aorta (2.23±0.59 pg/ml), suggesting ET secretion derived from endothelial cells in peripheral pulmonary vessels. There was a significant positive correlation between ET concentrations in the femoral vein and systemic vascular resistance (r=0.55,p

Background: The purpose of this study is to report our experience regarding the acute and intermediate-term results of balloon pulmonary valvuloplasty (BPV) in various types of congenital pulmonary valve stenosis. Methods and Results: Twenty-four consecutive patients with a median age of 6.6 years (ranging from I month to 24 years old) underwent BPV between January 1988 and September 1991. These patients were divided into 2 groups; Group I consisting of 13 patients with isolated pulmonary valve stenosis, and Group 2 consisting of 11 patients with complicated pulmonary valve stenosis (supravalvular, subvalvular, valved conduit and post-right ventricular outflow reconstruction). Mean peak systolic pressure gradients from the right ventricle to the pulmonary artery were as follows: In group 1, 48±21 (mean±SD) mmHg before BPV, 18±8 mmHg immediately after BPV and 13±5 mmHg at the longest follow-up based on catheterization or Doppler echocardiographic studies. The gradients in group 2 were 65±28 mmHg before BPV, 46±25 mmHg immediately after BPV and 47±21 mmHg at the longest follow-up. Conclusions: BPV provides both acute and intermediate-term gradient relief in patients with isolated pulmonary valve stenosis. In complicated pulmonary valve stenosis, on the other hand, the effect of BPV was unsatisfactory and appears to depend on the mechanism of associated obstruction. Therefore accurate evaluation of the anatomy of associated obstruction in the pulmonary valve region is needed to determine that BPV is indicated.

We report the case of a neonate with a rare association of tetralogy of Fallot and aortic valve stenosis, who died following percutaneous balloon valvuloplasty. Postmortem examination confirmed a tetralogy of Fallot morphology with a markedly hypoplastic pulmonary tree, hypertrophy of both ventricles, and a thickened and dysplastic aortic valve. Valvuloplasty was not effective despite the presence of a fissure in the cusp. The findings suggest that the left ventricular impairment and associated anomalies, with or without a dysplastic valve may contribute to the failure of balloon valvuloplasty in neonates with critical aortic valve stenosis.

It has been reported that tumour necrosis factor-alpha (TNF-alpha) is capable of inducing vascular injury, and interleukin 6 (IL-6) of inducing production of acute phase proteins and the maturation of megakaryocytes. Kawasaki disease (KD) is a systemic vasculitis with severe inflammation. We investigated whether TNF-alpha and IL-6 activities in serum from patients with KD differs from those in anaphylactoid purpura (AP) and measles. Serum TNF-alpha levels were measured by a sandwich enzyme immunoassay and IL-6 activities in serum were assessed by a colorimetric assay. Both KD and AP patients but not patients with measles had increased serum TNF-alpha levels during the acute stage. With respect to IL-6, patients with KD and measles, but not AP, had increased IL-6 activities in serum during the acute stage. IL-6 activities in serum of KD patients correlated with serum C-reactive protein levels and correlated to some extent with maximum platelet counts during the course of illness. These results suggest that KD differs from AP and measles regarding both cytokines. The combination of TNF-alpha, which may be responsible for severe vascular injury, and IL-6, which may be responsible for severe inflammation, may play an important role in acute KD.

Concentrations of prostaglandin E1, E2, and F2α (PGE1, PGE2, and PGF2α) were determined in milk and plasma from mothers of 9 preterm and 11 term infants. The concentration of PGE1 in milk was similar to that in plasma, and the concentrations of PGE2 and PGF2α were approximately 1.2–2 times higher than those in plasma. However, no significant differences in the levels of PGE1, PGE2, and PGF2α were observed between the foremilk and hindmilk, among the colostrum, transitional milk, and mature milk, and between preterm and term milk. Further studies have to be performed to confirm that the stable levels of PGE1, PGE2, and PGF2α in human milk found in this study play an important role in the gastrointestinal function of infants.

We report the case of a 23-year-old man who presented with late-appearing intracerebral calcification during the course of central diabetes insipidus. He had been diagnosed as having ectopic pinealoma and had received brain irradiation at the age of 11 years. Bilateral calcifications of the basal ganglia and thalamus appeared 8 years after the development of diabetes insipidus. Thereafter, the calcified lesions increased in extent on follow-up computed tomograms. Though the influence of cranial irradiation was not ruled out, the lack of evidence for any underlying metabolic defect suggested that persistent hypernatremia (hyperosmolar dehydration) due to insufficiently treated diabetes insipidus was the most probable cause of the intracerebral lesions. This has been described in previous cases of nephrogenic diabetes insipidus associated with intracerebral calcification.

Background: The aim of the present study was to investigate the role of early changes in cerebral blood flow (CBF) predicting the severity of neurological outcome in asphyxiated infants. Method: Serial monitoring of CBF was performed using a newly developed laser Doppler flowmeter (LDF) in parallel with conventional hemodynamic monitoring, such as mean arterial blood pressure (mABP) or heart rate (HR) in 11 asphyxiated infants (five infants with neurological sequelae and six infants without sequelae) during the first 4 days of life. Psychomotor development was followed up to 20 months. Results: No differences in average CBF, mABP, average HR, or Apgar scores were found between infants with neurological sequelae and those without (P > 0.1). Significant difference was found only in average stability index during the first 48 h of life (SI48), defined as a coefficient of variation of CBF during the corresponding period (P= 0.04). An SI48 ≥ 0.24 had positive predictive value of 100% for neurological sequelae while that

A review of our previous immunological studies on Kawasaki disease (KD) was undertaken. The results showed that peripheral blood macrophages/monocytes, T-cells and B-cells become activated during acute KD in terms of numerical changes in immunocompetent cells, expression of activated antigens on the cell surfaces and cytokine production. Also, during acute KD with coronary artery lesions (CALs) the numbers of macrophages/monocytes are increased. In addition, both the increased levels of tumor necrosis factor-alpha and shed intercellular adhesion molecule-1 in serum are more evident in KD patients with CALs than in those without. Our results further suggest that the main characteristics of the pathogenesis of KD are increased numbers of peripheral blood macrophages/monocytes with the secretion of monokines by these activated cells, and the expression of adhesion molecules on immunocompetent cells. These immune responses develop more vigorously in KD patients with CALs.

We review the validity of balloon occlusion aortography (BOA) on the basis of our personal experience with 18 patients with congenital heart disease (mean weight 4.55 g, including 8 neonates). Four of the 18 patients underwent aortic arch angiography using balloon occlusion of the descending aorta. Pulmonary angiography was also performed in 9 patients via a patent ductus arteriosus and in 3 patients via a Blalock-Taussig shunt. The remaining 2 patients underwent coronary arteriography by balloon occlusion of the ascending aorta. The information obtained was satisfactory in 17 of the 18 patients. However, in one patient with a double-outlet right ventricle and pulmonary stenosis, the pulmonary arteries were not clearly visualized because of dominant antegrade flow from the right ventricle. BOA is a safe and useful procedure which can be used to image the aortic arch, pulmonary artery, and coronary arteries in infants with congenital heart diseases. In children over 3 years of age, however, the balloon may not be able to occlude the appropriate site of the aorta, so selective angiography is required to obtain precise information.

We analyzed the expression of FcεR2/CD23 on the peripheral blood B lymphocytes of 10 patients with Kawasaki disease (KD) using a fluorescence-activated cell sorter. The absolute count of CD23-positive B lymphocytes and the ratio of CD23-positive B lymphocytes to B lymphocytes were high during the acute stage of KD in comparison to those during the convalescent stage and in control subjects. In addition, both the increased number of CD23-positive B lymphocytes and the increased serum IgE levels appeared during the latter part of the acute stage. These results suggest that the increased number of CD23-positive B lymphocytes during the latter part of the acute stage in KD reflect the activation of B lymphocytes and have an important role in IgE-mediated immunity.

We analyzed the expression of FcϵR2 CD23 on peripheral blood macrophages/monocytes in 12 patients with Kawasaki disease (KD) using a fluorescence-activated cell sorter. The absolute counts of CD14+ macrophages/monocytes and CD23+ macrophages/monocytes were high, and were positively correlated during the acute stage of KD. These results indicate that the increased number of macrophages/monocytes during acute KD have the FcϵR2 CD23 antigen present on the surface of the cells, suggesting that peripheral blood macrophages/monocytes have been activated.

The relationship between essential fatty acid (EFA) deficiency and disturbance of prostaglandin (PG) biosynthesis was studied in children after radical operation for extrahepatic biliary atresia (EBA). In addition, to investigate the method for treatment of postoperative EFA deficiency and disturbance of PG biosynthesis, the serum fatty acid and plasma PG levels were determined before and after supplementation of an EFA-rich powder (38 g of linoleic acid per 100 g of powder) through Suruga II enterostomy. Before administration of the EFA-rich powder, linoleic acid, arachidonic acid, PGE1, and PGF2 alpha levels were significantly lower in both good bile excretion and poor bile excretion groups than in the control group. After administration, linoleic acid and PGE1 levels significantly increased in the good bile excretion group as compared with the preadministration values. These results suggest that the supplementation of EFA-rich powder is an effective treatment for linoleic acid deficiency and disturbance of PGE1 biosynthesis in postoperative EBA patients.

Aims—To present the short and intermediate term results of coil occlusion of persistent ductus arteriosus and the results of radiographic measurements of spring coils implanted to treat patent ducts. Patients—22 children underwent coil occlusion. Their ages ranged from 2 years 9 months to 12 years 10 months (mean (SD) age, 6.5 (3.6) years). The duct diameter ranged from 1.0 to 3.5 mm at the narrowest point (mean 2.6 (0.7) mm). In 11 of the children regular coils were implanted using the non-attached system, while in the other 11 the detachable coil embolisation system was used. Results—12 children (55%) had no significant residual leaks immediately after procedures involving a single coil delivery. The remaining 10 (45%) had residual leaks immediately after the procedure, although no patient with a large duct showed residual leakage 18 months after the procedure. Radiographic measurement of the coils showed that all implanted coils retracted to 65-85% of their original size immediately after occlusion. This retraction was more evident in patients showing spontaneous closure of the residual shunt or having a coil 8 mm in diameter. Conclusions—Coil embolisation is an acceptable method for occluding persistent ductus arteriosus. Retraction of implanted coils is common in the follow up period. Such retraction may be related to spontaneous closure of residual shunt after embolisation. Keywords: persistent ductus arteriosus; catheter occlusion; coil embolisation

A 5 year old girl underwent recanalisation after coil embolisation of a persistent ductus arteriosus. Recanalisation is uncommon after coil embolisation and may be related to shrinkage of the coil, a change in its position, and ductal shape. Keywords: persistent ductus arteriosus; coil embolisation; recanalisation

We report a case of Dubin-Johnson syndrome (DJS) with severe infantile cholestasis and elevated computed tomography (CT) attenuation of the liver. Increased levels of urinary coproporphyrin I were found as well as pigment granules in the hepatocytes and hepatosteatosis. The CT attenuation was markedly higher in the liver of this patient at the ages of 3 and 7 months than in the spleen or kidneys. This high attenuation may be a finding specific to infantile DJS and, therefore, abdominal CT may be helpful in the diagnosis.

Background Familial long-QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur due to ventricular tachyarrhythmias. Three genes responsible for this syndrome ( KVLQT1 , HERG , and SCN5A ) have been identified so far. We investigated mutations of these genes in LQTS families. Methods and Results Thirty-two Japanese families with LQTS were brought together for screening for mutations. Genomic DNA from each proband was examined by the polymerase chain reaction–single-strand conformation polymorphism technique followed by direct DNA sequencing. In four of the families, comprising 16 patients, mutations were identified in KVLQT1 ; five other families (9 patients) segregated mutant alleles of HERG . All 25 of these patients carried the specific mutations present in their respective families, and none of 80 normal individuals carried these alleles. Mutations were confirmed by endonuclease digestion or hybridization of mutant allele–specific oligonucleotides. No mutation in SCN5A was found in any family. Conclusions We identified nine different mutations among 32 families with LQTS. Eight of these were novel and account for 25% of all types of mutations reported to date. Such a variety of mutations makes it difficult to screen high-risk groups using simple methods such as endonuclease digestion or mutant allele–specific amplification.

Low-density lipoprotein (LDL) particles are heterogeneous in density, size, and chemical composition, and this heterogeneity is thought to be genetically influenced. In the present study, plasma LDL subclasses in 248 children aged 7 to 13 years were analyzed by gradient gel electrophoresis. The prevalence of small dense LDL (SDLDL), a potent atherogenic LDL, was 9.3%, which is lower than that reported in adults. Furthermore, children with this LDL subclass showed increased body fatness and dyslipidemia, including elevated plasma triglyceride and apolipoprotein (apo) B concentrations and decreased plasma high-density lipoprotein (HDL) cholesterol and apo A-I concentrations, compared with children without this phenotype. These findings suggest that in addition to genetic factors, environmental factors that affect these cardiovascular risk factors may also influence expression of the SDLDL subclass.

The usefulness of magnetic resonance imaging (MRI) in the detection of a masked duplex kidney system is described. A 9 year old girl was admitted to our hospital for urinary incontinence. She was found to possess an ectopic ureter associated with complete ureteral duplication. She had been evaluated for incontinence at several hospitals, but neither ultrasound sonography nor intravenous pyelography detected any abnormalities. Only cystoscopic examination and MRI detected the anomalies. Partial nephroureterectomy resolved the patient's incontinence. MRI is useful for the detection of ureteral duplication and should be used on cases in which this condition is suspected, prior to performing invasive procedures.