Minoru Ogawa

I-cell disease: clinical studies of 21 Japanese cases

Clinical pictures of 21 cases with I‐cell disease patients, 12 males and 9 females, were analyzed. Characteristic coarse facial features and shortness of stature were observed in all cases. In general, the motor development was found to be more severely retarded than the mental development of the patients. Rather little involvement of the nervous system seemed to cause somewhat acceptable mental development in some cases, and also cause the absence of epileptic seizures in all cases. Involvement of the cardiovascular system, especially progressive hypertrophic cardiomyopathy, could be highly responsible for frequent sudden death of I‐cell disease patients.

Assessment of the intrapulmonary ventilation-perfusion distribution after the Fontan procedure for complex cardiac anomalies: Relation to pulmonary hemodynamics

In 12 patients who underwent the Fontan procedure for complex cardiac anomalies, lung scanning with xenon-133 was performed to assess the intrapulmonary ventilation-perfusion distribution, and comparison was made with a control group. All data were then analyzed in relation to either pre- or postoperative pulmonary hemodynamic data. In ventilation scans, the intrapulmonary distribution in the right lung was almost normal. In perfusion scans, an abnormal increased upper to lower lobe perfusion ratio greater than the normal value found in the control group was noted in seven patients (58.3%). There was a significant correlation (p less than 0.02) between the upper to lower lobe perfusion ratio and postoperative pulmonary vascular resistance. Furthermore, this perfusion ratio correlated inversely with the preoperative (p less than 0.005) and postoperative (p less than 0.02) right pulmonary artery area index, defined as the ratio of cross-sectional area to the normal value. Of five patients with less than 90% arterial oxygen saturation, four showed an abnormal distribution of pulmonary blood flow greater than the normal perfusion ratio. No patient had evidence of a pulmonary arteriovenous fistula by the echocardiographic contrast study. These results suggest that abnormal distribution of pulmonary blood flow to the upper lung segment may develop in patients after the Fontan procedure, and that insufficient size of the pulmonary artery before operation and the consequent postoperative elevation of pulmonary vascular resistance may be responsible for this perfusion abnormality.

Assessment of ventricular contractile state and function in patients with univentricular heart

To elucidate the ventricular contractile state and function in patients with univentricular heart, the ventricular volume, mass, ejection phase index, and wall stress were evaluated with biplane ventriculography and pressure measurement in 41 patients: 18 with left ventricular (LV) type (age, 6.4 +/- 6.1 years) and 23 with right ventricular (RV) type (age, 5.7 +/- 4.1 years), and data from patients with univentricular heart were compared with data from 19 normal control subjects (age, 7.2 +/- 4.3 years). Although the end-diastolic and end-systolic volumes were significantly greater in both types of univentricular heart than in the normal control group, the volumes for the LV and RV type patients did not differ from each other. The ejection fraction (EF) was depressed in both patient types of univentricular heart and was significantly (p less than 0.005) lower in the RV type than in the LV type patients (0.56 +/- 0.05 for LV type, 0.50 +/- 0.07 for RV type, and 0.64 +/- 0.03 for the control group). The ventricular mass was larger in both patient types of univentricular heart than in that of the control group, whereas the ratio of ventricular mass to end-diastolic volume was significantly (p less than 0.001) lower in the RV type patients than in the LV type patients and the control group (0.79 +/- 0.18 g/ml for LV type, 0.51 +/- 0.10 for RV type, and 0.82 +/- 0.13 for control group). End-systolic stress was significantly elevated in both types of univentricular heart (241 +/- 45 for LV type, 328 +/- 52 for RV type, and 205 +/- 26 kdynes/cm2 for the control group) and significantly (p less than 0.001) greater in the RV type than in the LV type patients. There was a significant inverse correlation (p less than 0.001) between end-systolic stress and the ratio of mass to end-diastolic volume in all the patients. In 27 patients (12 patients for LV type, 15 for RV type) the mean normalized systolic ejection rate corrected for heart rate (MNSERc) clearly fell below the 95% confidence limit of the normal end-systolic stress-MNSERc relation. The end-systolic stress:end-systolic volume ratio was also significantly depressed in both patient types of univentricular heart (3.49 +/- 1.77 for LV type, 4.07 +/- 2.13 for RV type, and 7.20 +/- 1.32 for the control group). In these variables, however, there were no significant differences between LV and RV type patients of univentricular heart.(ABSTRACT TRUNCATED AT 400 WORDS)

Hepatic expression of ANG2 RNA in metastatic colorectal cancer.

We examined the RNA content of the gene encoding angiopoietin (Ang)‐2, a modifier of angiogenesis, in hepatic metastases of colorectal cancer (CRC) to explore the role of this protein in neovascularization of metastatic foci. Metastatic CRC exhibited notable blood flow and tumor vessel formation at tumor frontiers. Reverse‐transcription polymerase chain reaction assays indicated that the ANG2 RNA content was greater in metastatic CRC than in primary CRC. Investigation of metastatic foci using laser capture microdissection revealed that the RNA content of ANG2, but not ANG1, increased from the bordering liver region to the periphery of the metastatic disease, and also from the periphery to the intermediate portion of the metastatic lesion; immunohistochemical analysis confirmed that there was a corresponding gradual increase in Ang‐2 protein expression. Tie‐2, a receptor for angiopoietins, was preferentially expressed in the bordering liver region rather than in metastatic CRC. Vascular endothelial growth factor (VEGF) also exhibited an expression pattern similar to that of Ang‐2, and there was a significant correlation between the RNA content of ANG2 and that of VEGF in dissected samples (P = .002). Western blot analysis suggested that expression of Ang‐1, Ang‐2, Tie‐2, and VEGF may be regulated at a transcriptional level. The increase in ANG2 RNA content from the peripheral portion of the tumor to the intermediate portion, coinciding with the decrease in recruitment of periendothelial supporting cells around the vascular endothelial cells, suggests that Ang‐2 may play a role in the immaturity of tumor vessels. In conclusion, the current study suggests that Ang‐2 and VEGF may cooperate to enhance the formation of new blood vessels in metastases of CRC to the liver. (HEPATOLOGY 2004;39:528–539.)

Quantitative cineangiographic analysis of ventricular volume and mass in patients with single ventricle: relation to ventricular morphologies.

With the use of biplane selective ventriculography, the ventricular volume, ejection fraction, and ventricular mass were evaluated in 28 patients with a single ventricle, and those with the left ventricular type (LV type, 12 patients) and right ventricular type (RV type, 16 patients) were compared. There were no significant differences in terms of age, hemoglobin, systemic oxygen saturation, or pulmonary-to-systemic flow ratio in the two groups. No patients with atrioventricular valve regurgitation were included. The ventricular cavity volume was calculated by the area-length method. The ventricular mass volume was determined as the shell volume created by subtracting the ventricular cavity volume from the total ventricular volume calculated by adding the free wall thickness to the chamber dimensions. The ventricular mass volume was converted to mass by multiplying by the gravity of the heart muscle. There was no significant difference between patients with the LV type and RV type of single ventricle with respect to the end-diastolic ventricular volume (188 +/- 53 and 179 +/- 61 ml/m2 in LV and RV types, respectively), end-systolic volume (88 +/- 31 and 84 +/- 27 ml/m2), or ejection fraction (0.54 +/- 0.06 and 0.52 +/- 0.06).(ABSTRACT TRUNCATED AT 250 WORDS)

Transient neonatal hypothyroidism probably related to immaturity of thyroidal iodine organification

roid hormone replacement then may cause thyrotroph regression and expose the pituitary gland and sella to CSF pressure or arachnoid pulsations, which may produce an empty sella. 13 In general, only a minority of patients with empty sella develop pituitary hormone deficiencies, 14 so additional damage to the pituitary gland must occur in some individuals. One might wonder whether slower thyroxine treatment (e.g., less than full replacement dosage) might have altered the development of an empty sella and hypopituitarism. This has been suggested by McVie, ~3 although we know of no studies to support this recommendation. Our patient was initially given a relatively 10w dose of thyroxine, 1.67 /~g/kg body weight, and subsequently required increased dosage. Evidence is accumulating that pituitary enlargement and subtle visual field defects and pituitary alterations occur more commonly with primary hypothyroidism than previously appreciated. Our case report outlines the full spectrum of these changes during childhood, when the development of hGH deficiency has more impact. The initial CT scan was obtained somewhat serendipitously; with the diagnosis of primary hypothyroidism, we would recommend CT scan of the brain only if the patient has signs of increased intracranial pressure or visual field deficits. With pituitary enlargement or mild visual field defects, we believe a conservative approach with thyroxine therapy and close observation is warranted. If the expected clinical response is not seen (in particular, failure to return to normal or catch-up growth rate), the clinician must consider the development of hypopituitarism, which may be associated with an empty sella. We thank Douglas Livermore, M.D., for referring the

Water immersion colonoscopy facilitates straight passage of the colonoscope through the sigmoid colon without loop formation: Randomized controlled trial

One of the major causes of pain during colonoscopy is looping of the instrument during insertion through the sigmoid colon, which causes discomfort by stretching the mesentery. There are many studies in colonoscope techniques, but they have not been assessed objectively with respect to colonoscope passage through the sigmoid colon without loop formation. The aim of the present study was to determine whether cap‐fitted colonoscopy and water immersion increase the success rate of insertion through the sigmoid without loop formation.

Total parenteral nutrition with a new amino acid solution for infants.

The currently available, commercially prepared amino acid mixtures for intravenous usage do not result in completely normal plasma amino acid patterns. Taking into consideration the known imbalances that occur with the commercial preparations, we designed a new amino acid solution (AF). This solution was prepared to contain a low concentration of those amino acids usually found in increased concentrations in plasma during the course of total parenteral nutrition (TPN) with a commercially prepared product (CF) and a high concentration of branched-chain amino acids and arginine. Plasma amino acid concentrations were determined for nine infants receiving CF (Group A) and eight infants receiving AF (Group B) as the protein source while on TPN for 5 days. These data were compared to 2-h postprandial values obtained from breast-fed, growing infants serving as controls. In comparison with controls, the plasma concentrations of threonine, glycine, methionine, phenylalanine, tryptophan, and lysine were higher in infants in group A, while those of taurine, alanine, valine, cystine, isoleucine, and proline were lower. In group B, the levels of valine and leucine were slightly higher, while those of alanine, cystine, tyrosine, histidine, and proline were lower. Mean nitrogen balances in groups A and B were + 112 and + 170 mg/kg/day, respectively. Therefore, our new amino acid solution may be better for infants receiving TPN.

Angiographic assessment of left ventricular volume, afterload and contractile state in normal children.

Left ventricular (LV) volume, mass and end-systolic stress were determined angiographically in 20 normal children aged 3 months to 16 years. LV contractile state was assessed by the analysis of the relation between end-systolic stress and ejection phase index or end-systolic volume. The LV volume and mass closely correlated with the body surface area. The LV mass/end-diastolic volume ratio (0.94 +/- 0.13 g/ml), ejection fraction (0.67 +/- 0.03) and circumferential end-systolic stress (163 +/- 21 kdynes/cm2, 165 +/- 21 g/cm2) remained constant despite the extensive increase in LV volume with physical growth. In all subjects significant inverse correlations were observed between end-systolic stress and ejection fraction or mean normalized systolic ejection rate. The ratio of the circumferential end-systolic stress to end-systolic volume index ranged from 5.00 to 12.57 (7.49 +/- 1.88). The ratio inversely correlated with age (r = -0.74, p less than 0.001), indicating that this ratio for estimating LV contractility is associated with ventricular size. These results suggested that the LV mass increased adequately in response to the extensive increase in LV cavity volume to maintain the end-systolic stress during growth in childhood and that physiologic cardiac growth was associated with appropriate hypertrophy with no significant change in LV contractile state.

Breath hydrogen test in infants and children with blind loop syndrome.

Breath hydrogen production after oral lactose loading was examined in infants and children with stagnant loop syndrome, blind loop syndrome, or both. All six infants under 3 years of age had bacteriological evidence of small intestinal colonization. The characteristics of the breath hydrogen test in this syndrome are: (a) extremely high basal excretion of breath hydrogen (after overnight fasting); (b) an earlier and greater breath hydrogen value (0.293 +/- 0.201 ml/min/m2: mean +/- SD) after oral lactose administration than formed in lactose malabsorption alone (0.050 +/- 0.041 ml/min/m2); and (c) the observation of a sustained hydrogen rise over several hours. This investigation demonstrated that the breath hydrogen test is a promising and noninvasive tool for diagnosing blind (or stagnant) loop syndrome.