bluuebunny/crossref_metadata_2025 huggingface dataset:
Molecular Analysis of Hypoxanthine‐Guanine Phosphoribosyltransferase Mutations in Five Unrelated Japanese Patients
Authors: Igarashi Takashi , Minami Mutsuhiko , Nishida Yuhtaro
Published: October 2007

The isoenzyme of hypoxanthine‐guanine phosphoribosyltransferase (HPRT, E.C.2.4.2.8) functions in the metabolic salvage of purines. Partial HPRT deficiency is associated with gouty arthritis, while absence of activity results in Lesch‐Nyhan (LN) syndrome. We characterized five unrelated patients with HPRT deficiency to understand the spectrum of molecular defects using Southern and Northern blot, polymerase chain amplification of HPRT mRNA and DNA sequencing, and oligonucleotide hybridization analysis of the HPRT gene. Southern blot analysis of DNA indicated that mutations leading to HPRT deficiency in our five patients were not the result of major chromosomal rearrangements or deletions. Sequencing analysis of the amplified DNA from three different patients with HPRT deficiency implied three unique molecular abnormalities: 1) one single‐base substitution at codon 54 (from ATG to CTG) resulting in the replacement of methionine with leucine in an LN patient, 2) two single‐base substitutions at codon 179 (from GTT to GGT) and at codon 180 (from GGA to AGA) resulting in the replacement of valine with glycine and glycine with arginine in a gouty patient, and 3) 51 nucleotide deletion between nucleotides 747 and 797 resulting in the formation of shorter sized HPRT mRNA and putative two amino‐acid deleted HPRT protein in another gouty patient. These results are the direct molecular evidence of genetic heterogeneity in mutant HPRT.
Two‐Dimensional Pulsed Doppler Echocardiographic Technique for Estimating Pulmonary to Systemic Blood Flow Ratio in Children with Atrial Septal Defect and Patent Ductus Arteriosus
Authors: Lin Yi‐Fong , Awa Shoichi , Hishi Toshio , Akagi Michio , Dodo Hidemi , Ishii Teruyuki , Watari Tohru , Oho Shinichi , Nakamura Gen
Published: October 2007

A two‐dimensional pulsed Doppler echocardiographic method was evaluated for quantifying the pulmonary (Qp) to systemic (Qs) blood flow ratio. Twenty six patients were studied, 15 with atrial septal defect (ASD) and 11 with patent ductus arteriosus (PDA). An apical fourchamber view was used to measure the maximal Doppler flow velocities in the right and left ventricular inflow regions (RVIR and LVIR) and the maximal diameters of the tricuspid and mitral anuli at diastole. The two‐dimensional pulsed Doppler pulmonary to systemic blood flow ratio (Qp/Qs) estimation involved calculating the area of the Doppler flow velocity signal along the time scale multiplied by the diameter of either the tricuspid or mitral anulus as measured on the apical fourchamber view. In ASD patients, Qp was measured at RVIR and Qs at LVIR. In PDA patients, Qp was calculated at LVIR and Qs at RVIR. Twenty‐six healthy children comprised the control group. The areas of the Doppler flow velocity signals along the time scales of RVIR and LVIR were also quantified and the diameters of the tricuspid and mitral anuli were measured. In the control group, the linear correlation of the trans‐mitral M(d)*M(a) to trans‐tricuspid T(d)*T(a) value was r=0.909, n=26. The correlations between Doppler Qp/Qs ratio estimates and those obtained at cardiac catheterization were r=0.902, n=15 in ASD and r=0.967, n=l l in PDA. These results suggest a clinical application of this Doppler echocardiographic method in the noninvasive estimation of the cardiac shunt in ASD and PDA.
Histiocytic Hemophagocytosis in the Bone Marrow in Children with Sepsis and Disseminated Intravascular Coagulation
Authors: Hara Toshiro , Honjo Satoshi , Miyazaki Chiaki , Mizuno Yumi , Suda Masahiro , Yamasaki Tohru , Ueda Kohji
Published: October 2007

Two children with systemic E. coli and candidial infections developed disseminated intravascular coagulation (DIC). Bone marrow examination in both cases showed histiocytic hemophagocytosis, consistent with the diagnosis of the hemophagocytic syndrome. Histiocytic hemophagocytosis in the bone marrow, one of the markers of the activated mono‐nuclear phagocyte system, might be common in patients with severe sepsis and DIC, especially in immunodeficiency.
A Case of Exercise‐Induced Anaphylaxis: Evidence of an Association with the Complement System
Authors: Obata Toshihiko , Kishida Masaru , Okuma Minoru , Walsh Garry M. , Likura Yoji
Published: October 2007

We studied a 17‐year‐old girl with exercise‐induced anaphylaxis (EIA). She experienced 10 episodes of EIA which demonstrated cutaneous, digestive and cardiorespiratory symptoms. This subject exhibited elevation in plasma histamine (13.3 ng/ml) and decrease in CH50 (17 U/ml) and C3 (70 mg/dl) after naturally induced EIA. On remission day CH50 (26 U/ml), C3 (83 mg/dl) and C4 (15 mg/dl) were of relatively low values. Her mother demonstrated the same tendency with a low level of C4 (14 mg/dl), and this suggested an underlying genetic disorder in the complement system. Exercise challenge could not elicit EIA symptomatically but showed fluctuation of CH50. The triggering mechanism of EIA was unclear; however there is a possibility that complement plays an important role in EIA.
How Suitable Is Human Milk for Pre‐Term Babies?
Authors: Davies David P.
Published: October 2007

Optimum nutrition for pre‐term babies can be defined as that which permits satisfactory growth and health in the short term, free from metabolic problems and infection, and in the long‐term fulfilment of growth and neuro‐developmental potential. This paper examines how human milk meets these requirements. The composition of the various types of human milk available to the pre‐term baby is described along with their short‐term influences on early growth, infection, necrotising enterocolitis and protein allergy and long‐term effects on physical size and neuro‐psychological function. The conclusion reached is that while admitting that human mint will often fail to meet some of the special nutritional needs of small pre‐term babies, there is as yet insufficient evidence to discourage its feeding to these babies. Its antimicrobial properties, potential immunological benefits and possible advarr tages to body (and brain) composition justify its continued use, particularly in those parts of the world where risks of neonatal infection are high.
Insulin Secretion in Childhood Obesity
Authors: Yoshizumi Tamotsu , Masuda Hidenari , Fujiwara Takashi , Uchida Yukinori , Kamiya Hitoshi , Hirota Hisayoshi , Kubo Masako , Haibara Cristina , Sakurai Minoru
Published: October 2007

In 132 severely obese children (72 boys and 60 girls) who underwent institutional therapy, oral glucose tolerance tests were carried out on admission, and these children were divided into groups with normal and high insulin levels, in terms of the I̊I values obtained, on the basis of the reference value + 2SD calculated by Maruhama et al [8]. From these children, those who had diabetes mellitus (DM) and those in whom DM was suspected were distinguished according to the diagnostic criteria of USPHS (Drash et al [1]). The insulin levels were normal in 58 children and high in 64. Ten children were found to have DM, and 19 were suspected to have DM. Metabolism of the glucose load occurred at both normal and high insulin levels in some children. There was also a group of children in whom glucose metabolism was incomplete at high insulin levels and a group of children in whom glucose metabolism was not possible even at high insulin levels, showing an obvious DM reaction. These findings suggest that there is a difference in the sensitivity of the insulin receptors in these children. Age, severe obesity and a family history of DM were considered to be risk factors for DM. Although there was a moderate, positive correlation between I̊I and the obesity index and between I̊I and age, it seems that the level of insulin secretion varies considerably in obese children.
A Simplified Master's Two‐step Test for Preschool Children
Authors: Yoshinaga Masao , Oku Shozo , Aihoshi Sogo , Nomura Yuichi , Haraguchi Tsutomu , Mizumoto Yuji , Inoue Hiroyuki , Yamamoto Eiji , Miyata Koichiro , Nagata Shiro , Oyama Toshiaki
Published: October 2007

To investigate the usefulness of a simplified Master's two step test (s‐MTT) for preschool children aged 4–6, s‐MTT was carried out in our pediatric cardiology clinic using a new stair and connector for joining the leads from each child to the ECG machine. The subjects were 21 children with Kawasaki disease without coronary involvement and four children with arrhythmias. The treadmill exercise test (TET) was done on the same day to compare the exercise load of s‐MTT with that of TET. Oxygen uptake during s‐MTT was also examined using another group consisting of eight outpatients. There were no differences in indices such as peak heart rate (HR), HR immediately after exercise, and performance ratio between the outpatients in this study and kindergarteners in the preliminary report, The proportions of peak HR and HR immediately after exercise in s‐MTT to those in TET were 91.1 ± 7.9 (mean ± SD)% and 91.1 ± 8.6%, respectively. The average oxygen uptake of the eight outpatients in s‐M'IT was 23.2 ± 4.1 ml/min/kg. These studies suggest that the simplified MTT is useful as a screening test, because it can be done for all children aged 4–6 in any laboratory.
Airway Obstruction in a Child with Esophageal Achalasia
Authors: Adachi Kuniko , Hayashida Michiaki , Toyoshima Kyoichiro
Published: October 2007

A 13‐year‐old Japanese boy who had respiratory symptoms and had been treated as a case of chronic bronchitis was found by us to have esophageal achalasia. He had complained of cough for one year and a half, and pulmonary function studies showed severe airway obstruction. The chest radiogram showed the trachea compressed by the dilated esophagus. After operation, the symptoms disappeared and marked improvement was found in the flow‐volume curve. Esophageal achalasia should be considered as one of the differential diagnoses of airway obstructive disease.
Two Doses of Measles Mumps Rubella (MMR) Vaccine
Authors: Kuno‐Sakai Harumi , Ozaki Kazuyo , Kimura Mikio
Published: October 2007

A schedule of two doses of measles mumps rubella vaccine (MMR) at an interval of six weeks was tried in children aged between 12 and 48 months. One hundred percent seroconversion was attained in the measles HI (hemagglutinin inhibition) test, rubella HI test, and mumps ELISA test in both groups of children who received NIH (National Institute of Health, Japan) MMR lot B‐30 and Kitasato MMR lot TV‐1. The possibility of vaccine failure with one dose of measles vaccine is not negligible [1], and the frequency of vaccine failure increases if three vaccines are combined in the form of MMR. Our observations revealed that a few of the children who had received one dose of MMR remained seronegative with regard to measles HI antibody and rubella HI antibody, and that some of the children remained seronegative with regard to mumps ELISA antibody. A schedule of two doses of MMR was shown to be helpful in reinforcing immunity in children who did not respond satisfactorily to one dose of MMR. We concluded that two doses of MMR are preferable to control measles, mumps and rubella infections.
Endomyocardial Biopsy in Children with Kawasaki Disease
Authors: Yonesaka Susumu , Nakada Toshimasa , Sunagawa Yoshiaki , Tomimoto Kazuhiko , Naka Shinichi , Takahashi Toru , Matubara Toru , Sekigami Isamu
Published: October 2007

To study the histopathology of the myocardium in Kawasaki Disease (KD) with various coronary angiographic fmdings, right endomyocardial biopsy specimens were evaluated on 20 boys and 16 girls with this disorder. KD with coronary artery lesions (CAL) showed various histopathological abnormalities, such as myocellular hypertrophy in 44%, degeneration in 61%, interstitial fibrosis in 44% and endomyocardial changes in 22%. KD without CAL revealed myocellular hypertrophy in 44%, degeneration in 50%, disarray in 28% and interstitial fibrosis in 6%. As in patients with long‐standing KD, more than three years after onset, myocardial changes such as myocellular hypertrophy, disarray and interstitial fibrosis persisted, it is suggested that cardiomyopathy may develop in some patients with KD.
Biochemical Pathogenesis of Demyelination in Globoid Cell Leukodystrophy (Krabbe's Disease): The Effects of Psychosine upon Oligodendroglial Cell Culture
Authors: Ida Hiroyuki , Eto Yoshikatsu , Maekawa Kihei
Published: October 2007

The effects of psychosine on the metabolism of myelin associated glycolipids such as galactocerebroside and sulfatide in mouse brain cell cultures were investigated in order to clarify the mechanism of demyelination in globoid cell leukodystrophy (Krabbe's disease). The incorporation of 3H‐galactose into cerebroside and sulfatide was studied in the presence of psychosine (1–3 μg/ml medium). These data indicated that psychosine inhibited the incorporation of 3H‐galactose into cerebroside and sulfatide not in astroglial cell culture but in oligodendroglial cell culture. Oligodendrocytes produce myelin in the central nervous shystem, and cerebroside and sulfatide are major components of myelin. These results suggest that psychosine influences the lipid metabolisms of myelin and subsequently leads to the demyelination in Krabbe's disease.
Changes in Pulmonary Tissue of Patients with Congenital Heart Disease and Down Syndrome: A Morphological and Histochemical Study
Authors: Hasegawa Noriko , Oshima Masahiro , Kawakami Hayato , Hirano Hiroshi
Published: October 2007

Pulmonary tissues obtained from 12 individuals suffering from congenital heart disease associated with Down syndrome were examined by light and transmission electron microscopy and compared with those of 29 cases without the syndrome. Alkaline phosphatase (ALPase) activity, which is known to play an important role in the secretion of pulmonary surfactant, was histochemically examined and compared. The major changes found in the pulmonary tissues examined from pulmonary hypertensive patients were increase in the number of type I1 alveolar cells and in ALPase activity. ALPase activity was positive in the plasma membrane of type I1 cells and in the limiting membrane of the osmiophilic bodies contained within them. These changes were more conspicuous and detected at an earlier age in the pulmonary hypertensive individuals with Down syndrome than in those without the syndrome. These observations indicate that the acinar region in pulmonary tissue is affected at an earlier stage, and that changes in the production and secretion of pulmonary surfactant occur, in patients with Down syndrome. Early surgical treatment is recommended for them.
Secondary Carnitine Deficiency in Handicapped Patients Receiving Valproic Acid and/or Elemental Diet
Authors: Igarashi Noboru , Sato Tamotsu , Kyouya Seizou
Published: October 2007

We examined serum‐free carnitine (SFC) concentrations and serum acylcarnitine (SAC)/SFC ratios in 40 severely handicapped patients, aged 2 to 36 years, and 69 age‐matched control subjects. SFC levels in the patients treated with valproic acid (VPA) and/or receiving carnitine‐deficient elemental diets (ED) were significantly lower, and their SAC/SFC ratios were significantly higher than in the other patients or in control subjects. There were 6 patients whose SFC levels were less than the ‐2SD level (15.8 ± 6.7 μM, range 6.3±25.5) of those in control subjects (52.1±11.5 μM). They had no clinical symptoms of carnitine deficiency such as non‐ketotic hypoglycemia, hepatomegaly, muscle weakness or cardiac function impairment, and showed normal transaminase, lipid and ammonia levels. In two cases (SFC=11.0, 13.4 μM), the ketogenic responses to intravenous administration of fat‐emulsion were impaired, but they were restored after D‐,L‐carnitine supplementation (30mg/kg/day, po) for 1 month. However, in one case with the lowest SFC level (6.3 μM), the ketogenic responses to fat‐emulsion infusion or fasting were normal, and dicarboxylic aciduria was not detected. These results indicate that 1) SFC levels are reduced in handicapped patients receiving VPA and/or ED, although clinical symptoms of carnitine deficiency do not easily develop, 2) some of these hypocarnitinemic cases show a subclinical impairment of hepatic fatty acid metabolism, not always correlated with the degree of SFC reduction, which can be restored by exogenous carnitine supplements, and therefore 3) in patients with acquired hypocarnitinemia, carnitine therapy should be considered, although a low SFC level alone may not imply an immediate indication.
Foreword
Authors: Iikura Yoji , Baba Minoru , Mikawa Haruki , Nagakura Toshikazu , Uehara Suzuko , de Silva Padmini , Gooneratne Devakanthi , Goonawardana Shiro
Published: October 2007

Many Sri Lankan children with cough and wheeze and peripheral blood eosinophilia are treated with diethyl carbamazine (D.E.C.) on the assumption that filaria is the cause. We tried to establish whether filaria can trigger asthma and whether D.E.C. improves bronchial reactivity. In 35 symptomatic and 22 asymptomatic children peripheral blood eosinophil counts, filarial antibody test, stool examination, chest radiography, allergy skin tests and histamine inhalation tests were performed before and after treatment with D.E.C. Most of the symptomatic children were atopic; 1/3 of all children had helminthiasis, positive filarial antibodies and total eosinophil counts of > 2,000. Ten children had chest radiographs suggestive to tropical pulmonary eosinophilia. Only in those with intermittent symptoms was there a marked improvement in bronchial reactivity after D.E.C., but baseline peak expiratory flow (P.E.F.) improved in all symptomatic groups. We conclude that 1/3 of the children had filariasis which in an atopic individual may trigger asthma. Both the anti‐inflammatory and the anti‐filarial action of D.E.C. probably contribute to improvement of bronchial reactivity.
Serum Levels of Glycated Albumin in Non‐Diabetic and Insulin‐Dependent Diabetic Children
Authors: Miyamoto Naoki , Shirakawa Norihisa , Kuroda Yasuhiro , Abe Fusae , Shima Kenji
Published: October 2007

The serum levels of glycated albumin (GA) in 83 non‐diabetic children and 26 children with insulin‐dependent diabetes mellitus (IDDM) were measured by high‐performance liquid chromatography (HPLC). In non‐diabetic children over one year, the GA levels were found to be uninfluenced by age, while the fructosamine (FRA) levels increased with age. The mean level of GA in IDDM children was 39.1±9.1%, which was significantly higher than in non‐diabetic children with values of 16.1±.1% (p<0.01). The GA levels of non‐diabetic and IDDM children did not overlap, whereas their FRA levels did overlap. The GA levels correlated with HbAlc levels (r=0.74, p<0.01) and FRA levels (r=0.66, p<0.01) in IDDN children. The GA levels were more closely correlated than the FRA levels with the blood glucose two and three weeks previously. Thus, the GA level is a useful indicator of shortterm control in diabetes mellitus.
Carnitine Deficiency in Inherited Organic Acid Disorders and Reye Syndrome
Authors: Sugiyama Naruji , Kidouchi Kiyoshi , Kobayashi Masanori , Wada Yoshiro
Published: October 2007

A large quantity of propionylcarnitine in the urine of patients with propionic acidemia and methylmalonic aciduria was demonstrated. The amount excreted depended on the administered L‐carnitine dose from 25 to 75 mg/kg/day. A high level of propionylcarnitine was also detected in the amniotic fluid of fetuses at risk of methylmalonic aciduria. Glutaric aciduria type 1 was characterized by excessive urinary excretion of glutarylcarnitine. In a neonate with glutaric aciduria type 2, several specific acylcarnitines were detected in the urine. These included isovaleryl‐, acetyl‐, isobutyryl‐, and butyrylcarnitine as major carnitine esters and glutaryl‐, and octanoylcarnitine as minor components. However, the pattern of acylcarnitines excreted changed from isovalerylcarnitine (via leucine) to isobutyrylcarnitine (via valine) during early life. In patients diagnosed as Reye syndrome, tissue carnitine deficiency was not always recognized and no decrease in the free/total carnitine ratio was found in the liver or muscle. The clinical and pathophysiological manifestations seen in these disorders are considered to relate to mitochondrial activity. Therefore, it is necessary to measure acylcarnitine fractions in the urine in order to obtain more precise information about mitochondrial function because carnitine and acylcarnitine compounds may express the metabolic state of mitochondria.
Evaluation of the Possible Role of Glucose, Carnitine, Coenzyme Q10 and Steroids in the Treatment of Reye's Syndrome Using the Margosa Oil Animal Model
Authors: Sinniah D. , Sinniah R. , Baskaran G. , Pathmanathan R. , Yamashita F. , Yoshino M.
Published: October 2007

Glucose and steroids have been used in the treatment of children with Reye's syndrome, while carnitine and coenzyme Q10 have been the subject of some recent studies which suggest that these agents may have a role in the treatment of Reye's syndrome and Reye‐like syndrome due to margosa oil poisoning. Because of the paucity of causes of Reye's syndrome seen at any one centre, the clinical variability of the disease, and limited knowledge of definite aetiologic factors, controlled clinical trials are not easy to carry out or to interpret in human cases. These caveats were overcome by evaluation of these four treatment modalities in an established margosa‐oilinduced animal model of Reye's syndrome. Effectiveness of the treatment modalities was determined from clinical response and histopathologic parameters (grading of light microscopic fatty changes and ultrastructural changes in the hepatocytes). Results show that carnitine per se produces a small improvement in survival, but statistically, more significant benefit is seen with glucose administration. Carnitine plus 10% dextrose appears to produce better results. Evaluation of coenzyme Q10 and carnitine on histopathologic parameters in the liver after a sublethal dose of margosa oil showed no obvious ameliorating effect on liver pathology. Steroids (dexamethasone/methylprednisolone) had no beneficial effects in reducing mortality, affecting glycogen storage or lipid accumulation. Changes in the mitochondria, ribosomes and endoplasmic reticulum were unaltered from the groups treated with margosa oil alone. While glucose and camitine supplements appear to be beneficial, the other modes of therapy do not seem to hold much promise in the treatment of Reye‐like syndrome in the margosa‐oil‐induced animal model.
Partial Trisomy 22 with Dandy‐Walker Malformation
Authors: Katafuchi Yukihiko , Hashino Kanoko , Maeno Yasuki , Komori Hironori , Yamashita Yushiro , Horikawa Mizuho , Abe Kyohko , Niikawa Norio , Kato Hirohisa
Published: October 2007

Partial trisomy 22 usually occurs through a 3:1 meiotic segregation of the parental 11q;22q translocation carrier, which is the most common balanced translocation in man. Common neurologic findings are delayed psychomotor development and muscular hypotonia. There have been a few neuroradiologic and neuropathologic studies, which include ventricular dilatation, arrhinencephaly, and aplasia or hypoplasia of the cerebellar vermis, corpus callosum and pons. We here add one patient with partial trisomy 22 who had, in addition to the usual features, Dandy‐Walker malformation, which, to our knowledge, is a previously undescribed feature.
Continuous Wave Doppler Echocardiographic Evaluation of St. Jude Prosthetic Mitral Valves in Children
Authors: Matsuoka Yuji , Nishiguchi Toshihiro , Nakachi Tsuyoshi , Hayakawa Kunio , Ontsuka Toshio , Koga Yasunori
Published: October 2007

The function of 9 St. Jude prosthetic mitral valves in 8 children was evaluated by continuous wave Doppler (CWD) echocardiography 28±22 months after implantation. All valves were apparently functioning normally on clinical examination. Peak flow velocity, mean flow velocity, pressure half‐time and mean pressure gradient were determined from the transmitral flow velocity curve by CWD echocardiography. For comparison, the same parameters were examined in 15 normal children and 14 adults who had undergone mitral valve replacement. All measured values were greater in adults and children who had undergone valve replacement than in normal children. There were no differences in any parameter in adults or children in whom prostheses 25 mm or larger had been implanted. Although 3 children in whom prostheses 23 mm or smaller had been implanted had greater values for each parameter than those who received 25 mm or larger prostheses, there were no symptoms or signs of mitral stenosis. These data may be useful as guidelines for normal Doppler characteristics for St. Jude mitral valves in children. In an asymptomatic child whose prosthetic valve developed obstruction by granulation tissue overgrowth, each parameter significantly worsened as the heart rate increased. The changes in these parameters in 2 normally functioning St. Jude valves during atrial pacing were insignificant. The fluctuation of Doppler characteristics with changes in heart rate is useful for differentiating normally functioning prosthetic valves from impending stenosis.
Screening System for Asymptomatic Renal Disease in Children in Japan
Authors: Sakai Tadasu , Kitagawa Teruo
Published: October 2007

The introduction in Japan of routine urinalysis for pre‐school and school age children has greatly facilitated the discovery of renal disease in asymptomatic children. Over the past 8 years at Kitasato University Hospital, we have studied 113 cases of chronic progressive renal disease based on renal biopsy.

Thirty‐one of these 113 patients were found by routine urinalysis at area schools. It is noteworthy that many of the asymptomatic children were found to have renal diseases such as MPGN, FGS, and IgA nephropathy.Although it is difficult to decide whether or not medical management is required for asymptomatic children, the histological findings may give pertinent guidance for planning an appropriate therapeutic program in the early stages of various types of renal disease. This early detection may enable us to observe these potentially progressive renal diseases from the early phase and to provide clues for the investigation of the pathogenesis of these renal diseases.
Urinary and Serum Galactitol in Galactosemic Patients
Authors: Yamazaki Takeshi , Mino Makoto , Hayashi Masaki
Published: October 2007

Serum and urinary galactitol levels were examined in two patients with classical galactosemia. Even under strict dietary therapy, galactitol levels were much higher than those of healthy controls. In a 6‐day‐old patient who had eaten large amounts of galactose before diagnosis, it took more than two weeks for urinary galactitol to decrease to the stable value. In an 8‐year‐old case, more than ten days were required for urinary galactitol to reach the base line level after a galactose load of 1.25 g/kg. In both patients, the urinary galactose levels decreased rapidly. After loading with a small amount of galactose (5 g, equivalent to 200 ml of milk) in the latter patient, higher levels of urinary and serum galactitol were maintained for a long time, as compared with galactose, but they returned to baseline level after 24 hours. From these results, we discussed the use of urinary galactitol as an index to check galactose intake.
Changes of Anti‐HB Core Antibody in Children with Positive HB Surface Antigen
Authors: Kagimoto Seiichi , Fujitsuka Satoshi , Onoue Masahiro , Fujisawa Tomoo , Yoshioka Shigetake , Hino Kunihiko
Published: October 2007

To elucidate the clinical courses of children chronically infected with HB virus (HBV), RIA values of anti‐HBc were surveyed in 88 cases with positive HBs antigen. Among 56 children with positive HBe antigen, 20 had negative, indefinite or low titers of anti‐HBc, and 18 (90%) of them had no liver malfunction. Out of 30 cases with abnormal liver function tests, 28 (93%) had high titers of anti‐HBc. Follow‐up study for a period of over 12 months reveals that serum HBe antigen disappeared in 10 out of the 40 cases who were positive for this antigen. All of the 10 cases had liver malfunction and high levels of anti‐HBc. Among 12 children with initially positive anti‐HBe, five had high titers of anti‐HBc. Out of 13 children who once had high levels of anti‐HBc, 3 showed reduction in titers of anti‐HBc during the follow‐up period in accordance with decrease in activity of hepatitis. Four out of 16 who initially had HBe antigen and low titers of anti‐HBc showed high titers of anti‐HBc during the observation period, while only one of 33 who had HBeAg and a high titer of anti‐HBc went to the low titer group of anti‐HBc, though continuously positive for HBe antigen. We presume that high levels of anti‐HBc indicate previous or current liver damage due to HBV infection, while low titers of anti‐HBc indicate that HBV‐derived liver damage has not yet occurred or that a long time has passed since the last episode of liver damage subsided.
Enzyme‐Linked Immunosorbent Assay of Influenza Specific IgA Antibody in Nasal Mucus
Authors: Ohta Kazuyo , Kuno‐Sakai Harumi , Kimura Mikio , Oh Yasumasa , Kim Ryuichi , Kumihashi Hideaki , Takashima Masakazu , Fukai Kounosuke
Published: October 2007

An enzyme‐linked immunosorbent assay of influenza HA specific IgA antibody in nasal mucus is described. This assay is very sensitive and only a minute quantity of nasal mucus is required.
Ultrasonography of Ovary, Uterus and Breast in Premature Thelarche
Authors: Nakamura Michiru , Okabe Ichiro , Shimoizumi Hideo , Yanagisawa Masayoshi , Taniguchi Nobuyuki , Itoh Kouichi
Published: October 2007

We studied 17 girls with the complaint of premature breast development. Enlarged breast tissue was confirmed in 15 patients by sonography. Pelvic and breast sonography were also performed in these patients. The sizes of most uteri and ovaries were within the normal range. Nine of the 15 patients (60%) showed follicular cysts in the ovaries. These cysts were ovoid with diameters of up to 10 mm. No relationship was found between the thickness of breast tissue and the ovarian findings. Pelvic sonography was also performed in normally developing girls under 6 years of age. Four of 47 girls (4%) showed small follicular cysts in the ovaries. In summary a high percentage of patients with premature thelarche have relatively large follicular cysts, with normal sized ovaries and uteri. Breast sonography is useful to distinguish swollen subcutaneous tissue from breast development.
Familial Juvenile Nephronophthisis in Two Siblings — Histological Findings at an Early Stage —
Authors: Matsubara Kousaku , Suzuki Kei , Wei Lin Ying , Yamamoto Toshiyuki , Ohta Shigeru
Published: October 2007

We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN.
An Unusual Gastric Foreign Body
Authors: Munoz Nestor A. , Takehara Hiroo , Hashimoto Takayo , Yoshida Kanehiro , Komi Nobuhiko
Published: October 2007

Ingestion of foreign bodies is common in children. The majority of those which reach the stomach will pass uneventfully through the gastrointestinal tract. We report here an 9‐month‐old boy who swallowed an earring. Several roentgenologic examinations revealed a small, closed earring in the stomach. Endoscopic removal failed. At surgery the earring was seen grasping the pyloric ring and one end had eroded the gastric mucosa. These caused the earring to anchor firmly to the pylorus, as if it were attached to an ear lobe. The unusual way in which it was lodged in the stomach caused the impediment to its further progress, but fortunately, this was without serious consequences. Early endoscopic examination for retained foreign bodies in the stomach is recommended.
Comparison of Autologous and Allogeneic Bone Marrow Transplantation in Children with Acute Leukemia
Authors: Ohira Mutsuro , Takayama Jun
Published: October 2007

Thirty‐one patients with acute non‐lymphocytic leukemia (18 patients) or with high‐risk refractory acute lymphocytic leukemia (13 patients) underwent bone marrow transplantation between March 1980 and March 1990. The high‐dose conditioning regimen employed included cyclophosphamide followed by fractionated total body irradiation (12 GY). Fourteen patients who had an HLA‐identical sibling donor received allogeneic bone marrow transplantation (ailo‐BMT); the other 17 patients received autologous bone marrow transplantation (auto‐BMT) purged with 4‐hydroperoxycyclophosphamide (4HC). Four of the 14 allo‐graft recipients died of leukemic relapse and 2 others died of graft‐versus‐host disease. Three of the 17 auto‐graft recipients died of relapse and 1 suffered relapse in the testes. The actuarial risk of relapse was 29% for the allo‐BMT patients and 24% for the auto‐BMT patients (P<0.05). The event‐free survival rate at five years was 57% and 74% respectively (P<0.05). Although there was no difference between them, a trend toward a higher survival rate and a lower mortality and morbidity was observed in the auto‐BMT group. These results suggest that autologous bone marrow transplantation purged with 4HC is an effective and useful treatment for children with acute non‐lymphocytic and lymphocytic leukemia who have no HLA‐identical donor.
Human Leukocyte Antigens in Childhood Idiopathic Nephrotic Syndrome
Authors: Jin Dong Kyu , Kohsaka Takao , Tanaka Masahiro , Abe Jun , Kobayashi Noboru
Published: October 2007

An association of human leukocyte antigens (HLA) with idiopathic nephrotic syndrome (INS) in childhood was studied to characterize the immunogenetic background. We determined the class I antigens using the microlymphocytotoxicity test as well as class II antigens (DRB, DQB, DQA) and class III antigen (complement 4) using DNA restriction fragment length polymorphism (RFLP) in 36 children with INS. In the current study, neither the single allele in HLA class I antigen nor the single gene frequency in the class II region was significantly increased, in contrast to the results in Caucasian INS patients in whom a genetic predisposition to the HLA system, especially to HLA B8, DR3, and DR7, has been frequently reported. Also, in our data, the frequency of deletion of complement 4 gene was not different from that of the controls. These data suggest that there is a difference in immunogenetic background between Caucasian and Japanese INS patients as far as HLA is concerned.
Heat Shock Protein as a Predisposing and Immunopotentiating Factor in Kawasaki Disease
Authors: Yokota Shumpei
Published: October 2007

Local inflammatory reactivation of a previous BCG inoculation site is a specific and early manifestations of Kawasaki disease (KD). It is postulated that the erythematous changes at the BCG site are part of a generalized activation of the immune system, and that molecules cross‐reacting between the infectious agent involved and mycobacterial BCG antigens contribute to the inflammatory process. To detect the cross‐reacting molecules, the antibody responses to mycobacterial antigens were examined in 21 patients by IgG‐immuno‐blotting using acute and convalescent phase sera. Markedly increased levels of antibody against mycobacterial 65kDa protein were detected in all convalescent but in none of the acute sera. Since the antibodies detected are also directed to recombinant 65kDa heat shock protein (HSP65), HSP65 may be related to the initial phase of KD. Moreover, peripheral lymphocytes from convalescent KD patients proliferated in culture in the presence of HSP65, suggesting the sensitization of lymphocytes to HSP65, and γδTCR(+) T cells in the peripheral blood were increased in half the KD patients. Thus, HSP65 is a potent factor involved in activation of the immune system, and consequent endothelial damage in the initial phase of KD.
Effects of Total Asphyxia on the Development of Synaptic Junctions in the Brains of Mice
Authors: Tateno Akihiko , Sakai Kaori , Koya Niroku , Aoki Tsugutoshi
Published: October 2007

Using ethanolic phosphotungstic acid staining, we studied the development of synaptic junctions in the brains of mice subjected to total asphyxia. One‐day‐old mice, Std:ddY strain, were put into a chamber continuously flushed with 100% CO2‐gas for 35 min. The surviving mice (28.1%) were used as experimental models, while unasphyxiated littermates served as controls. The synaptic junctions in the frontal motor cortex and hippocampal cortex were studied at 20 and 60 days of age using E‐PTA staining, and the numbers of synaptic junctions in both areas were counted. In comparison with the control animals, the frontal motor cortex of the subject mice showed a smaller increase in the number of synaptic junctions, both at 20 and at 60 days of age. In the hippocampal cortex, the number of synaptic junctions seen in the experimental mice brains was similar to that in the controls at 20 days of age; however, the number of synaptic junctions in the treated mice brains showed a slower rate of increase than in the controls at 60 days of age.
Perinatal Features of Birth Asphyxia and Neurologic Outcome
Authors: Lam Barbara C.C. , Yeung Chap‐Yung
Published: October 2007

The perinatal events of 40 term newborn infants who had severe birth asphyxia were reviewed and correlated with the neurological outcome at a mean age of 2½ years. Severe birth asphyxia was defined as an Apgar Score of 3 at 1 min. The majority (68.5%) of the babies had an abnormal fetal heart pattern before delivery. Persistent fetal bradycardia was most frequently associated with poor outcome. The neurological staging, the need for assisted ventilation for more than 24 hours and severe renal impairment were the best predictors of neonatal death or subsequent poor neurological outcome. The overall mortality was 10% and 15% of the surviving babies had varying degrees of neurological handicap.
Asymptomatic Low Molecular Weight Proteinuria: Qualitative Urinary Protein Analysis
Authors: Watanabe Takeshi , Takahashi Shori
Published: October 2007

The urinary proteins of seven patients with asymptomatic low molecular weight proteinuria (ALMP) were compared with those of Lowe syndrome and Fanconi syndrome. A characteristic electrophoretic pattern was seen in ALMP by isoelectric focusing. Two dimensional electrophoresis revealed that the ALMP proteins were localized in a more negatively charged region of lower molecular weight and consisted of a smaller variety of proteins in comparison with those from Fanconi syndrome and Lowe syndrome. These results suggest that ALMP might be an isolated form of other types of congenital renal tubular diseases from the viewpoint of protein reabsorption and has a lesser functional defect on the proximal tubules.
Intravenous γ‐Globulin Therapy in Diamond‐Blackfan Anemia
Authors: Sumimoto Shin‐ichi , Kawai Masahiko , Kasajima Yoshiki , Hamamoto Torata
Published: October 2007

Pure red cell aplasia (PRCA) is a rare disorder of erythrocyte production which is believed to have an autoimmune basis in most cases. Diamond‐Blackfan anemia (DBA) is one type of congenital PRCA. Since PRCA has been reported to respond to intravenous γ‐globulin (IVGG) therapy, we administered IVGG to a 2 year old girl with DBA resistant to corticosteroids and observed slight therapeutic effect.
T Cell Activation and T Cell Receptor Variable Region Gene Usage in Measles
Authors: Ura Yoko , Hara Toshiro , Nagata Mari , Mizuno Yumi , Ueda Kohji , Matsuo Muneaki , Mori Yoshimoto , Miyazaki Sumio
Published: October 2007

T cell activation and T cell receptor variable (V) regions were studied with monoclonal antibodies in peripheral blood lymphocytes from 22 patients with measles. Increased (> 5%) activated T cells (HLA‐DR+ CD3+ cells) were noted in 14 of the 22 patients. Elevations of Vβ5+ and Vβ8 + T cells were observed in two and four patients, respectively, and appeared to be associated with T cell activation. The duration of fever was significantly prolonged in those with increased (> 10%) activated T cells (p < 0.01). These results suggest that T cell activation and the preferential expansion of Vβ8+ and Vβ5+ T cells are associated with the pathogenic process of measles.
Clinical Experience in Using a New Type of Nasal Prong for Administration of N‐CPAP
Authors: So Bai‐Horng , Shibuya Kazuhiko , Tamura Masanori , Watanabe Hiroshi , Kamoshita Shigehiko
Published: October 2007

Nasal continuous positive airway pressure (N‐CPAP) has been used in infants with decreased lung compliance for increasing the functional residual capacity (FRC), decreasing the work of breathing and improving the PaO2/PAO2 (arterial‐alveolar PO2 ratio) without intubation. However, the currently available nasal prongs for administration of N‐CPAP have presented some problems in fixation, and lesions to the nasal septum or nostrils might be induced by aggressive pressure intended to fix them. We would therefore like to report our experience in using a new type of nasal prong for administration of N‐CPAP therapy. The nasal prongs we used were provided by Dr. Wung of Columbia University in New York, who first designed them, and have been used safely, effectively and without any complications.
Circulatory Effects of Denopamine in Newborn Piglets
Authors: Tomita Hideshi , Coe James Y. , Olley Peter M.
Published: October 2007

Denopamine is an orally active β1 agonist whose cardiovascular action in the newborn is unknown. We evaluated its circulatory effects during normoxia in newborn piglets less than 7 days of age. The piglets were acutely instrumented under general anesthesia with an electromagnetic flow probe around the main pulmonary artery and catheters in the main pulmonary artery, aorta, left ventricle, and the right and left atria. A Millar high‐fidelity catheter was used to measure left ventricular dp/dt. The ductus arteriosus was ligated. Denopamine was administered in the right atrium as a continuous infusion of 2, 4, and 8μg/kg per min for 10 min each. Although cardiac index, heart rate and left ventricular dp/dt increased dose‐dependently by 46.0 ± 18.2%, 87.1 ± 34.9% and 159.9 ± 42.4%, respectively, stroke index was not significantly altered. Unlike pulmonary artery pressure (which increased dose‐dependently), aortic pressure increased with 2 and 4μg/kg per min denopamine, respectively, it fell with 8μg/kg per min denopamine. Similarly, the systemic vascular resistance decreased with the high dose (8 μg/kg per min). There was no significant change in pulmonary vascular resistance. Denopamine is potently inotropic in the adult. However, its circulatory effect in the neonate is dependent on its chronotropic action. Furthermore, denopamine is a systemic vasodilator at high doses in the neonatal circulation.
Balloon Valvuloplasty for Congenital Aortic Valve Stenosis in an Infant and Children
Authors: Saiki Kuninobu , Kato Hirohisa , Suzuki Kazushige , Inoue Osamu , Toyoda On , Takagi Junichi , Sato Noboru , Ohara Nobutoshi , Akagi Teiji , Ishii Masahiro , Miyake Takumi , Sugimura Tetsu , Maeno Yasuki , Hashino Kanoko , Fukuda Tsuyoshi
Published: October 2007

Percutaneous balloon aortic valvuloplasty (BAV) was performed in 14 patients, including one critically ill infant with congenital valvular aortic stenosis (AS). BAV was effective in 13 patients (except the infant). The peak systolic pressure gradient between the left ventricle (LV) and the ascending aorta decreased from 76.6 ± 21.6 to 29.5 ± 15.3 mmHg (P < 0.001). Follow‐up cardiac catheterization was performed for eight patients between 1 and 3 years (1.6 ± 1.1 years) after BAV. Restenosis was found in only one patient, and the efficacy of BAV continued significantly. Aortic regurgitation developed or increased in severity in 5 of 13 children immediately after BAV. Any other severe complication was not observed.

Dilatation by BAV was not sufficient for the infant with critical AS, and acute myocardial infarction (AMI) in the lateral wall of the LV occurred during the BAV procedure. The infant died 3 days after the procedure due to AMI.

It was concluded that the retrograde double balloon technique was superior to the retrograde single balloon technique. In two cases, the single balloon technique was ineffective because it was impossible to fix the balloon at the aortic annulus. However, the double balloon technique was effective in every patient.

BAV is effective for AS in children, and an optional repeat trial may enable BAV to be the first choice for AS. Although BAV may be effective for neonates and infants with critical AS as an emergency treatment, much attention must be paid during the procedure.
Cardiac Beriberi (Shoshin Beriberi) Caused by Excessive Intake of Isotonic Drink
Authors: Fujita Ichiro , Sata Takeyoshi , Gondo Kenjiro , Fukazawa Mitsuru , Kukita Johji , Zaitsu Akinori , Yoshitake Junichi , Ueda Kohji
Published: October 2007

A 21 month old female had voluntarily ingested 0.5–1.51 of isotonic sports drink daily from 10 months of age. She developed hyponatremia and beriberi heart disease, which resulted in metabolic acidosis and cardiogenic shock (shoshin beriberi). Mechanical ventilation was applied for pulmonary edema. Right heart failure was improved after administering vitamin Bi. However, 5 days after the shock, hypoxemia and diffuse radiographic infiltrates progressed, and a diagnosis of adult respiratory distress syndrome (ARDS) was made. After the occurrence of an air leak, the patient died of respiratory failure. The cardiogenic shock and pulmonary edema due to cardiac beriberi may have triggered the ARDS.
Skin Tests of Pollen Grains of Taxodiaceae and Cupressaceae in Children with Bronchial Asthma
Authors: Midoro‐Horiuti Terumi , Nouno Shin , Seino Yoshiki
Published: October 2007

Atmospheric cedar pollen in the southern region of Okayama Prefecture (situated in south‐western Japan) has been counted since 1988. Pollen of different species of the Taxodiaceae family (Cryptomeria japonica, Sequoia sempervirens and Metasequoia glyptostroboides) and Japanese juniper (Juniperus rigida) in the Cupressaceae family, which are propagated mainly in the southern region of Okayama Prefecture, were found among the atmospheric pollen. Scratch tests using the pollen extract from Taxodiaceae and Cupressaceae were performed on children with bronchial asthma. Forty (25%) and 30 (18.8%) of the 160 patients reacted positively to an allergen extract from the pollen grains of Japanese cedar (Cryptomeria japonica) and Japanese juniper, respectively.
A Case of Mixed‐type Dysgerminoma with a High Serum Concentration of both Human Chorionic Gonadotropin and α‐Fetoprotein in a Child
Authors: Uno Takeji , Harada Yukio , Hongo Teruaki , Fujii Yuji , Hashimoto Ritsuo , Kawarazaki Hideo
Published: October 2007

Dysgerminoma is divided into two types: pure and mixed. The mixed type is related to other various elements of germ cell tumors. We experienced a case of mixed type dysgerminoma with a high serum concentration of both human chorionic gonadotropin and a‐fetoprotein. The patient was a 6 year old girl who was admitted to the Hamamatsu University School of Medicine with an abdominal mass. Laboratory investigations revealed elevated serum a‐fetoprotein and high concentration of serum β‐human chorionic gonadotropin. The tumor originated from the left ovary. The histopathological diagnosis was dysgerminoma. Serum human chorionic gonadotropin and α‐fetoprotein levels were useful markers in monitoring the response to treatment in this patient.