Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome.

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.

Detection rate and clinical impact of respiratory viruses in children with Kawasaki disease.

PURPOSE: The purpose of this prospective case-control study was to survey the detection rate of respiratory viruses in children with Kawasaki disease (KD) by using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR), and to investigate the clinical implications of the prevalence of respiratory viruses during the acute phase of KD. METHODS: RT-PCR assays were carried out to screen for the presence of respiratory syncytial virus A and B, adenovirus, rhinovirus, parainfluenza viruses 1 to 4, influenza virus A and B, metapneumovirus, bocavirus, coronavirus OC43/229E and NL63, and enterovirus in nasopharyngeal secretions of 55 KD patients and 78 control subjects. RESULTS: Virus detection rates in KD patients and control subjects were 32.7% and 30.8%, respectively (P=0.811). However, there was no significant association between the presence of any of the 15 viruses and the incidence of KD. Comparisons between the 18 patients with positive RT-PCR results and the other 37 KD patients revealed no significant differences in terms of clinical findings (including the prevalence of incomplete presentation of the disease) and coronary artery diameter. CONCLUSION: A positive RT-PCR for currently epidemic respiratory viruses should not be used as an evidence against the diagnosis of KD. These viruses were not associated with the incomplete presentation of KD and coronary artery dilatation.

Diagnosis of incomplete kawasaki disease in infants based on an inflammation at the bacille calmette-guérin inoculation site.

BACKGROUND AND OBJECTIVES: This study was intended to test how the inflammation at the Bacille Calmette-Guérin (BCG) inoculation site (BCGitis) can be a useful a diagnostic feature of Kawasaki disease (KD). SUBJECTS AND METHODS: All subjects were infants at the time of admission, and had received BCG vaccination during their neonatal period. There were 54 patients with complete KD (group 1) and 29 patients with incomplete KD (group 2). All 83 patients had BCGitis during the acute phase of illness. Data regarding the coronary artery diameters in 31 age-matched controls were used for comparison. RESULTS: The 2 patient groups did not differ in clinical and laboratory variables. During the acute phase, the median z scores of the left anterior descending coronary artery (LAD) diameter were 0.20, 0.42, and -0.48 in groups 1, 2, and control respectively, and that of right coronary artery (RCA) diameters were -0.15, -0.16, and -1.17 respectively. The z scores in both patient groups were greater than those in controls (p=0.0014 in LAD and p<0.0001 in RCA between group 1 and controls; p=0.0023 in LAD and p<0.0001 in RCA between group 2 and controls). A similar pattern was observed during the subacute and convalescent phases. CONCLUSION: BCGitis is a useful feature in the diagnosis of incomplete KD in infants who received BCG vaccine during neonatal period.

Log-transformed plasma level of brain natriuretic peptide during the acute phase of Kawasaki disease is quantitatively associated with myocardial dysfunction.

PURPOSE: Brain natriuretic peptide (BNP) has been considered a biochemical marker for myocarditis in Kawasaki disease. We performed this study to determine its quantitative significance. METHODS: We attempted to correlate log-transformed BNP concentrations (log-BNP) and clinical, laboratory, and echocardiographic variables in 81 children with Kawasaki disease. Stepwise multiple linear regression analysis was used to determine the variables independently associated with log-BNP concentration. RESULTS: Serum C-reactive protein level (P<0.0001), serum alanine aminotransferase concentration (P=0.0032), white blood cell count (P=0.0030), and left ventricular mass index (P=0.0024) were positively related with log-BNP, and hemoglobin level (P<0.0001), serum albumin level (P<0.0001), Na(+) concentrations (P<0.0001), left ventricular fractional shortening (P=0.0080), and peak early diastolic tissue velocity of the left ventricular basal lateral segment (P=0.0045) were negatively related to the log-BNP concentration. Multiple regression analysis showed that serum albumin concentration (R(2)=0.31, P=0.0098) and left ventricular mass index (R(2)=0.09, P=0.0004) were significantly associated with the log-BNP concentration. CONCLUSION: Elevated BNP levels during the acute phase of Kawasaki disease may be attributable to cardiac dysfunction associated with the increase in left ventricular mass, and log-BNP concentration may be a quantitative biochemical marker of myocarditis in Kawasaki disease.

Analyses of left ventricular myocardial deformation by speckle-tracking imaging during the acute phase of Kawasaki disease.

This study aimed to investigate left ventricular myocardial deformation in children with Kawasaki disease during the acute phase of their illness. A total of 50 patients and 35 normal control subjects were assessed. Data were obtained from the patients during the acute and convalescent phases of Kawasaki disease. Analyses of myocardial deformation [strain (epsilon), strain rate (SR)] was performed using two-dimensional speckle-tracking imaging in three directions (longitudinal, circumferential, and radial) at the basal and mid levels of the left ventricular myocardium. Basal longitudinal epsilon (P < 0.001) and midlongitudinal epsilon (P < 0.0001) were lower during the acute phase of the disease than in the control subjects and associated with serum albumin level and left ventricular mass index (LVMI). Midlongitudinal SR (P < 0.0001) was lower during the acute phase of Kawasaki disease than in the control subjects and associated with LVMI. Decreased systolic SR was not detected in any direction. In conclusion, left ventricular longitudinal systolic epsilon was significantly decreased during the acute phase of Kawasaki disease. This may be a result of myocardial swelling from myocarditis during the acute phase of the disease.

Repair of atrial septal defect with Eisenmenger syndrome after long-term sildenafil therapy.

We report a woman with atrial septal defect and severe pulmonary hypertension with 25.0 Wood unit.m(2) of indexed total pulmonary vascular resistance. She underwent successful corrective repair of atrial septal defect after 2 years of treatment with sildenafil, and has been monitored for 4 years after repair. This case supports a "treat and repair" approach using advanced pulmonary vasodilator therapy in selected patients with inoperable severe pulmonary hypertension associated with atrial septal defect.

Nonrefluxing neonatal hydronephrosis and the risk of urinary tract infection.

PURPOSE: The aim of this study was to assess the relationship between prenatally diagnosed nonrefluxing hydronephrosis and urinary tract infection. MATERIALS AND METHODS: We reviewed patients who were born at our institution between March 1989 and February 2006. Those who were diagnosed with fetal hydronephrosis confirmed on postnatal sonography were enrolled in the study. Hydronephrosis was graded according to the Society for Fetal Urology classification. Obstructive uropathy was diagnosed with (99m)technetium mercaptoacetyltriglycine renal scan and clinical courses. Voiding cystourethrography was done to exclude patients with vesicoureteral reflux. The prevalence of urinary tract infection was checked at 1-year followup. RESULTS: A total of 430 patients without reflux were enrolled in the study. Male-to-female ratio was 351:79. Urinary tract infection developed in 83 patients (19%), with first infection occurring at age 4.1 +/- 2.7 months overall and before age 6 months in 70 patients (84% of subgroup). Frequency of urinary tract infection was 1.4 +/- 0.7 (range 1 to 4) episodes during the first year. Urinary tract infection developed in 50 of 128 patients with obstructive uropathy (39%), compared to 33 of 302 patients without obstructive uropathy (11%, p <0.001). High grade hydronephrosis was associated with an increased incidence of urinary tract infection-38 of 96 patients (40%) with grade IV hydronephrosis had urinary tract infection, compared to 26 of 79 (33%) with grade III, 13 of 94 (14%) with grade II and 6 of 161 (4%) with grade I disease (p <0.001). Urinary tract infection occurred more frequently in patients with vs without hydroureter (37 of 78, or 47%, vs 46 of 352, or 13%; p <0.001). CONCLUSIONS: Neonates with obstructive uropathy, severe hydronephrosis or hydroureteronephrosis have increased risk of urinary tract infection even without reflux, and antibiotic prophylaxis may be recommended.

An AFLP-based linkage map of Japanese red pine (Pinus densiflora) using haploid DNA samples of megagametophytes from a single maternal tree.

We have constructed an AFLP-based linkage map of Japanese red pine (Pinus densiflora Siebold et Zucc.) using haploid DNA samples of 96 megagametophytes from a single maternal tree, selection clone Kyungbuk 4. Twenty-eight primer pairs generated a total of 5,780 AFLP fragments. Five hundreds and thirteen fragments were verified as genetic markers with two alleles by their Mendelian segregation. At the linkage criteria LOD 4.0 and maximum recombination fraction 0.25(theta), a total of 152 markers constituted 25 framework maps for 19 major linkage groups. The maps spanned a total length of 2,341 cM with an average framework marker spacing of 18.4 cM. The estimated genome size was 2,662 cM. With an assumption of equal marker density, 82.2% of the estimated genome would be within 10 cM of one of the 230 linked markers, and 68.1% would be within 10 cM of one of the 152 framework markers. We evaluated map completeness in terms of LOD value, marker density, genome length, and map coverage. The resulting map will provide crucial information for future genomic studies of the Japanese red pine, in particular for QTL mapping of economically important breeding target traits.