bluuebunny/crossref_metadata_2025 huggingface dataset:
McArdle Disease: Familial Variety of Muscle Phosphorylase Activity in Two Siblings
Authors: Maekawa Kihei , Shimizu Hiroshi , Eto Yoshikatsu , Nonaka Ikuya
Published: October 2007

Two siblings with McArdle disease were studied biochemically and histochemically. Case 1 was a 9‐year‐old girl and case 2 was a 14‐year‐old boy. No elevation of serum lactate after exercise was noticed in both cases. PAS staining in case 1 was markedly increased, whereas in case 2 it was moderately increased. Muscle glycogen content in case 1 was 51 mg/gr muscle and in case 2 it was 38.7 mg/gr (control: 11.2 ± 1.28 mg/gr). Muscle phosphorylase activity was completely absent in case 1 and was about 50% of normal value in case 2, by both determinations of histochemical and direct biochemical methods. SDS‐polyacrylamide gel electrophoresis revealed a little amount of muscle phosphorylase protein in both cases and also no abnormal migration of residual activity of muscle phosphorylase was found on polyacrylamide electrophoresis. These data indicate that occurrence of familial variety of muscle phosphorylase in two siblings was due to difference of muscle phosphorylase activity and also different onset of disease and clinical severity among two cases are depending on the degree of residual amount of the enzyme.
Epidemilogy of Insulin‐Dependent Diabetes Mellitus in Korea
Authors: Moon Hyung Ro
Published: October 2007

The prevalence of diabetes mellitus in the age group5–16 years, determined from 13,152 subjects residing in Kwangju, Chonnam Provice was 0.099 per cent or 98.9/100,000 in a study performed from December, 1976 to June 1977. On the other hand an epidemiologic study carried out on 254,835 subjects in the age groups14–15 and17–18 years from March 1981 to March 1982 in Seoul City revealed on overall prevalence of 7.85/100,000. In a retrospective study, 88.0/100,000 or out of a total of 10,228 pediatric inpatients were confirmed casesw of insulin‐dependent diabetes mellitus, during 7 years and 2 months (from january 1974 to March 1981) at a general hospital located in Jeonju City. The wide range in the prevalence and incidence figures of diabetes mellitus in Korean children probably resulted from lack of uniformity in epidemiological methodology and the degree of ascertainment.

The adge distribution at onset of diabetes mellitus showed a gradual incdrease and peak incidences at 3,8 and 12 years of age. The4 sex difference in incidence was not obvious, though girls slightly outnumbered boys. Seasonal variation at onset of diabetes mellitus showed the highest frequency of new cases in winter and spring months.
HLA in Japanese Insulin‐Dependent Diabetes Mellitus
Authors: Juji Takeo , Maeda Hiroo , Tokunaga Katsushi , Ishiba Shintaro , Maruyama Hiroshi
Published: October 2007

Ninety‐four Japanese patients with insulin‐dependent diabetes mellitus (IDDM) and 388 healthy randomly selected Japanese were HLA typed. Significantly increased frequencies of Bw54, Cwl, DR4, B17 (Bw58), DR3 and DRw9 were observed. Simultaneously, the frequencies of Bw52 and DR2 in the patients were found to be significantly low as compared with those in helathy Japanese controls. It was suggested that one of the susceptibility genes to IDDM, which is associated with B8, DR3 haplotypes in Caucasoids, might be associated with B17 (Bw58), DR3 haplotypes in Japanese and in Chinese. Another susceptibility gene to IDDM associated with DR4 in Caucasoids might be associated with both DR4 and DRw9 in Japanese. A very rare variant of properdin factor B allotypes (BF*FT or BF*F075) was shown to be associated significantly with Japanese IDDM and with Bw52, DRw9 haplotypes.
Immune Mechanisms in the Etiology of lnsulin‐Dependent Diabetes Mellitus
Authors: Ludvigsson Johnny
Published: October 2007

Different environmental factors such as virus infections or toxic agents may play a role in the etiology of insulin‐dependent diabetes mellitus, but it is evident that hereditary factors also are important. These two basic components can be unified into one common etiological mechanism, the immunological. Several facts support this hypothesis, which is reviewed in this paper. The theory now seems strong enough to justify trials to interfere with the immune response at the onset of diabetes in an effort to change the gradual loss of beta cell function.
Control Parameters in the Management of IDDM
Authors: Weber Bruno
Published: October 2007

Well‐being, physical capacity, growth and development, emotional stability, and even clinical symptoms such as thirst and polyuria, appear to be rather insensitive parameters of control in young patients with insulin‐dependent diabetes mellitus (IDDM), reflecting only inadequately the actual state of health and the current metabolic condition. An effective supervision of the adequacy of treatment requires periodic physical checkups by an expert physician and permanent (i.e. daily) monitoring of the metabolic state by the patient himself.

Of all accessible metabolic parameters, blood glucose and urinary glucose excretion seem to be most important, reflecting best the usually wide range of metabolic fluctuations during the day. Both can easily be measured repeatedly, using semiquantitative method and interpreted by the patient. However, only if adequate consequences such as necessary changes in therapy are taken, this sort of self‐monitoring is useful. Furthermore, the patient needs to be assured that his own measurements are correct, by both laboratory controls and by determinations of glycosylated proteins, in particular HbA1, which integrate glycaemia during his red cells' life span and are well suited to complement self‐monitoring. Compared to glucose, blood lipids, urinary ketone bodies, and C‐peptide or free insulin concentrations only serve as additional parameters of more limited importance, most of which require laboratories and are not available for every‐day therapeutic decisions.
Early Diagnosis of So‐Called Late Complications in Type 1 Diabetic Children
Authors: Chiumello Giuseppe , Meschi Granco , Beccaria Luciano , Morandi Rancesco , D'Arcais Alberto Flores , Bianchi Cesare
Published: October 2007

Prevention of late complications is the main problem in type 1 diabetes of childhood. Longitudinal studies of subjects diagnosed before puberty demonstrated significant prevalence of retinopathy, nephropathy and neuropathy after 10‐ 15 years, correlated with the duration of diabetes. Proliferative retinopathy is rarely observed in children with diabetes of less than 5 years duration but vitreous fluorophotometry has shown abnormalities of retinal vessels in asymptomatic patients. In early diabetes glomerular permeability can be tested by radioimmunoassay of microalbuminuria; values above 30 mcg/min are a good predictor of later clinical proteinuria. The development of overt neuropathy is extremely variable and it may not be present even after many years of poorly controlled diabetes.

Vitreous fluorophotometric abnormalities, basal and post‐exercise microalbuminuria and reduction of nerve conduction velocity have been proven to be reversible with intensive therapy. When secalled “late” complications are diagnosed early, careful and intensive therapy to maintain metabolic equilibrium near normal is called for.
T Cell Subset and Steroid Sensitivity in Idiopathic Nephrotic Syndrome in Children
Authors: Takahashi Yoshihiro
Published: October 2007

The relationship between T cell subset of peripheral blood lymphocytes and steroid sensitivity was studied in children with idiopathic nephrotic syndrome (INS). The subjects were 28 INS children, aged 2 to 16 years. T cells bearing receptors for IgG (Tγ) were identified by double rosette assay with sheep erythrocytes and IgG‐sensitized ox erythrocytes. T cells bearing receptors for IgM (Tμ) were identified by IgM‐sensitized ox erythrocytes rosette assay in purified T cells after incubating overnight.

In steroid sensitive INS children, decreased numbers of Tγ cells and increased numbers of Tμ cells in onset or relapse were found and they were normalized with corticosteroid administration. Tγ cells of steroid nonsensitive INS children remained decreased even after steroid therapy.

Tγ cells have been suggested to be, at least in part, suppressor T cells. Alteration of peripheral blood Tμ cells in this observation therefore may suggest the abnormality of suppressor T cells in INS children.
Tghe Presence of Common Precursor for Basophils and Eosinophils
Authors: Saito Hirohisa , Ito Tadaatsu , Nakamura Hironori , Joh Kosuke
Published: October 2007

When human bone marrow cells were incubated in the presence of medium conditioned by PHA‐stimulated leukocytes (PHALCM) in methylcellulose culture, small compact colonies grew. The compact colonies were identified to consist of eosinophils, using Wright and Giemsa staining. However, among som of the eosinophilic colonies, several mixed granule leukocytes containing both basophilic and eosinophilic granules (but not basophils) were identified using astra blue‐biebrich scarlet staining. When some of the eosinophilic colonies were transferred into liquid suspension culture containing PHALCM, the growth of mixed granule leukocytes and basophils was observed in the culture. These results show that basophils and eosinophils may have a common precursor.
Authoritarian Paternal Attitude Inter‐Generational Transmission
Authors: Peretti Peter O. , Statum Jo Ann
Published: October 2007

The present research was conducted to determine authoritarian paternal attitude inter‐generational transmission. Factor analysis of the results suggested that authoritarian paternal attitudes could be indicated in terms of five factors, namely: Dominant, Rigidity, Conformity, Intoleratn, and Uncreative. In general, the sons expressed strongly the authoritarian attitudes of the fathers. Moreover, there were few significant differences Between the paternal attitudes of the fathers and sons.
Congenital Hypoprothrombinemia: The First Reported Case in Japan
Authors: Fujimura Yoshihiro , Nakaue Noriko , Sugimoto Mitsuhiko , Matsuyama Ikuko , Takase Toshio , Yoshioka Akira , Fukui Hiromu
Published: October 2007

A Japanese boy with congenital hypoprothrombinemia, who was discovered in the newborn period when umbilical bleeding occurred, is described. On the 6th day after birth, the patient was found to have a markedly low thrombotest and prolonged prothrombin time and partial thromboplastin time. The administration of vitamin K failed to correct the coagulation defects, and the specific coagulation and immnological assay disclosed an extreme decrease of prothrombin activity and antigen. A slight increase of prothrombin activity and antigen in the patient was observed during the first year of life. The half‐lives of prothrombin activity and antigen were both10–11 hrs in the first phase, and32–33 hrs in the second phase. The inheritance mode of the disease seemed to be an autosomal recessive from the test results of the family members.
Transient Neonatal Hyperphenylalaninemia due to Immature Development of 7, 8‐Dihydrobiopterin Synthesis
Authors: Sawada Yoshitomo , Shintaku Haruo , Isshiki Gen , Hase Yutaka , Tsuruhara Tsuneo , Oura Toshiaki
Published: October 2007

We describe a case with transient neonatal hyperphenylalaninemia, possibly due to immature biosynthesis of 7, 8‐dihydrobiopterin (BH2). In the neonatal period his blood phenylalanine levels were high and the patterns of urinary pterins were similar to those found in defective synthesis of BH2, which results in a type of hyperphenylalaninemia. But the laboratory data became almost normal after three months. Transient hyperphenylalaninemia has generally been thought to be caused by the delayed maturation of phenylalanine hydroxylase. But it is suggested that some cases with transient neonatal hyperphenylalaninemia are due to immaturity of BH2 cofactor biosynthesis rather than that of phenylalanine hydroxylase.
Interstitial Deletion of the Long Arm of Chromosome 13 and Retinoblastoma
Authors: Ohdo Shozo , Sonoda Tohru , Madokoro Harumichi , Hayakawa Kunio
Published: October 2007

A female infant is reported in whom bilateral retinoblastoma developed due to interstitial delection of the long arm of chromosome 13. Her chromosome karyotype examined with peripheral lymphocytes proved to be 46, XX, del (13) (q12.3 q21.2). Parental chromosome karyotypes were normal.

Clinical symptoms were bilateral retinoblastoma, retardation of growth and development, and mild microcephaly. No other marked dysmorphic features were noted.
Metabolism: Therapeutic Bone Marrow Transplantation in Niemann‐Pick Mice
Authors: Sakiyama Takeshi , Tsuda Masahiko , Owada Misao , Nakabayashi Hiroki , Miyawaki Shigeki , Kitagawa Teruo
Published: October 2007

Mice with Niemann‐Pick disease were treated with bone marrow transplantation. The loss of Purkinje cells remained unchanged, but the accumulation of sphingomy elin and cholesterol was reduced in the visceral organs, especially in the spleen, three weeks after marrow graft. The activity of acid sphingomyelinase was increased in the grafted liver of mice, and in the spleen this activity was elevated to normal levels.
Increase of Immunoglobulin‐ Bearing Peripheral Blood Lymphocytes in Children with Kawasaki Disease
Authors: Kuno‐Sakai Harumi
Published: October 2007

Immunoglobulin‐bearing peripheral blood lymphocytes were measured serially in 15 patients with Kawasaki disease. IgG‐bearing lymphocytes and IgMbearing lymphocytes were increased significantly during the acute phase of the disease (p<O.O5). No such increase was observed during the convalescent phase (28th–45th day). Further investigation is needed to reveal the mechanisms of the increase of immunoglobulin‐bearing cells in the peripheral blood of children with Kawasaki disease.
Unusual Lack of the Epitope Recognized by OKT4 on the Helper/Inducer T Lymphocytes
Authors: Fukunaga Yoshitaka , Ogura Yuichi , Jinbo Osamu , Murakami Mutsumi , Yamamoto Masao , Ueda Yutaka , Good Robert A.
Published: October 2007

Lack of the epitope recognized by OKT4 monoclonal antibody on the helper/inducer T lymphocytes in a 14‐year‐old boy with IgA nephritis is described.

The lymphocytes reacted normally with OKT3 /Leu4 and OKT8/αLeu2a monoclonal antibodies but not with OKT4 monoclonal antibody. Studies with other monoclonal antibodies (αLeu3a, OKT4A, OKT4B, OKT4C, OKT4D) which also identify the helper/inducer T lymphocyte subset revealed that cells of this population were present in normal numbers among the lymphocytes of the peripheral blood. Staining with OKT4 plus αLeu3a in normal persons indicated that T4 antigen is present on a small population of lymphocytes which lack Leu3a antigen. Further, the intensity of staining of the majority of cells in the subpopulation is increased when these two fluorescienated antibodies are used together. In this patient neither this small OKT4+ Leu 3a‐ population nor the cells bearing the Leu3a antigen showed OKT4 staining. The findings in the surface marker analysis of E+ OKT8‐ peripheral lymphocytes which were achieved by panning of the patient's peripheral cells indicated the existence of a population of E+OKT8‐ peripheral lymphocytes which were achieved by panning of the patient's periphera cells indicated the existence of a population of E+ (4A+4B+4C4D+)αLeu3al+ ly mphocytes in this patient. Lymphocyte responses to PHA, ConA and PWM, however, were all within normal range. Further, this patient had normal serum immunoglobulin levels and exhibited no symptoms or signs of immunodeficiency.

These findings indicate that the patient under study has functionally normal helper/inducer T lymphocytes which lack the epitope recognized by OKT4 monoclonal antibody.
SCREENING SYSTEM: School Physical Examination and Mass Screening for Tuberculosis
Authors: Yamato Jungo
Published: October 2007

The spread of tuberculosis has been arrested in Japan, and this is especially remarkable in children. Taking as an example the incidence rate of tuberculosis in children of 5 ∼ 9 years of age, there has been a remarkable decrease from 261.3 in 1962 to 4.2 in 1983. In Japan, mass examination for tuberculosis is performed on primary school children in the 1st grade and also on junior high school children in the 1st grade. The detection rate of tuberculosis for these groups is very low. The future direction of examination for tuberculosis in school is as follows:

Records of examinations should be prepared carefully, so as to avoid omitting absentees in examinations.

Emphasis should be placed on examination of children who are in contact with newly detected active tuberculous patients.

Early visits to doctors are recommended when symptoms such as fever of unknown origin or persistent cough appear.
CONTROL AND DAILY CARE OF SICK CHILDREN AT SCHOOL: Management and Daily Care for School Children with Heart Disease
Authors: Okuni Masahiko
Published: October 2007

The management system and actual daily care of school children with heart disease in school in Japan is described. It is expected to decrease cardiac sudden death in Japan as a result of ideal heart disease screening and adequate management of children with heart disease.
Platelet‐Associated IgG in Children ‐ Values and Evaluation of PAIgG in Various Thrombocytopenias ‐
Authors: Fujisawa Kohji , Akatsuka Jun‐ichi
Published: October 2007

Platelet‐associated IgG (PAIgG) levels were measured in 60 children with ITP (46‐chronic, 14‐acute) using Fab‐anti Fab radioimmunoassay method described by McMillan et al. In some patients platelet binding IgG in serum (PBIgG) was also determined at the same time. Patients with ITP had significantly greater PAIgG levels than 30 normal subjects and 13 non‐immune thrombocytopenic controls. Elevated PAIgG values did not correlate with parameters of platelet size (mean platelet volume; MPV and percentage of large platelet; PLP) and so these data indicated that high levels of PAIgG in ITP were not due to nonspecific adhesion of serum IgG to megathrombocytes usually increased in this disorder, but due to specific immunological reaction. PBIgG IgG values were also elevated in patients with pretreated chronic ITP, but high levels remained even after successful splenectomy.

Furthermore, serial determination of PAIgG values were obtained in some patients with chronic ITP who underwent splenectomy and with acute ITP who achieved spontaneous remission. PAIgG returned to normal levels when thrombocytopenia disappeared. PAIgG seems to be the most reproducible indicator which reflects transition of the clinical picture in this disorder.
Partial Trisomy 18q Associated with Terminal Deletion of 5p: 46, XX, +der (5), t(5; 18) (p15.3; q12.2) pat.
Authors: Madokoro Harumichi , Ohdo Shozo , Sonoda Tohru , Togoe Tomoka
Published: October 2007

A female infant with a 46,XX,+der95),t(5;18)(p15.3;q12.2) pat karyotype is reported. Her clinical features were milder than those of patients with full trisomy 18. She had no cat‐like cry. This suggests that the deletion of the 5p15.3 to pter is not responsible for the cat‐like cry noted in the patients with the 5p‐syndrome.
Chronic Granulomatous Disease in Japan: A Summary of the Clinical Features of 84 Registered Patients
Authors: Hayakawa Hiroshi , Kobayashi Noboru , Yata Junichi
Published: October 2007

Eighty‐four patients with chronic granulomatous disease, who were registered in the All Japan Immunodeficiency Registry, were analysed for their clinical features.

Family history, presumed mode of inheritance, age of onset, prognosis, major symptoms (particularly infections), complications and some laboratory data were summarized and discussed in comparison with some previous reports. This is the first epidemiological report on chronic granulomatous disease from the Orient.
Impaired Neutrophil Adhesion: A New Patient in a Previously Reported Family
Authors: Fujita Kyoko , Kobayashi Kunihiko , Kajii Tadashi
Published: October 2007

This paper describes a male infant, the younger brother of a girl previously reported to suffer from recurrent skin infections, with an abnormality of neutrophil adhesion to a surface and a lack of two neutrophil membrane proteins, gp 110 and gp 115. The male infant, now seven months old, suffers from a disease identical with that of his sister. Their parents, both healthy, have reduced levels of the neutrophil glycoproteins.

Scanning electron microscopy of the infant's neutrophils attached to a glass surface revealed a considerable reduction of pseudopods compared to a normal control. His neutrophils suspended in PBS, however, were morphologically normal. When stimulated in suspension by N‐formyl‐methionyl‐leucyl‐phenylalanine, the neutrophils also showed normal morphological changes. These findings indicate that the function of the cytoskeleton of the neutrophils is not impaired, but the function of the cell surface membrane is defective.

Neutrophil adhesion assay using adhesion rate to nylon fibers as an indicator revealed both siblings and their parents as having a reduced adhesion rate. This finding, combined with the fact that the disease occurred in a sister and brother, lends further support to an autosomal recessive mode of inheritance of the disease.
Serum Lipid and Lipoproteins Concentrations in Obese Children as Atherogenic Risk Factors
Authors: Shigenaga Hirotoshi , Yoshii Osamu , Togoe Tomoko , Hayakawa Kunio , Hamada Keisuke , Kida Nobuaki , Ohtaki Sachiya
Published: October 2007

Nine hundred and ninety‐eight obese children aged 6 to 15 years participated in the present study. Fasting serum lipid and lipoprotein cholesterol values were measured and the relationship between obesity and abnormalities of serum lipids and lipoproteins was assessed. The results were as follows: 1. Obese children were more likely than non‐obese children to have elevated serum total cholesterol (TC), triglyceride (TG) and LDL‐C(low density lipoprotein cholesterol) levels and reduced HDL‐C (high density lipoprotein cholestrol) levels. 2. The more the relative body weight index increased, the worse the abnormalities of serum lipids and lipoproteins became. This tendency was marked in junior high‐school boys. 3. Hypercholesterolemia in obese children was mostly accounted for by LDL‐C only and elevated HDL‐C could not be detected.
Sequential Computed Tomography in Severely Asphyxiated Infants
Authors: Okada Masato , Yokochi Kenji , Suzuki Koichi
Published: October 2007

Sequential CT scans were evaluated in four term infants with severe asphyxia, who subsequently developed neurodevelopmental sequelae. The initial CT scans performed within the first week of life showed poor visualization of the ventricles, diffuse but mild low density in the cerebral hemispheres and the falx image. In two of them, remarkably low density was seen in the basal ganglia and thalami in the second CT scans. The last CT scans demonstrated multicystic encephalomalasia in one case and brain atrophy with thalamic high density due to postichemic hypervascularity in the other. Of the other two cases, one showed low density in the fronto‐temporal region in the initial CT scan and brain atrophy in the sequential scans. The other showed only transient periventricular low density. In conclusion, the morphologic changes seen in sequential CT scans continue until at least two months after birth and neonatal scans alone may not be useful for predicting the outcome.
Changing pattern in Reserve Capacity of Gonatropin Secretion
Authors: Hoshina Kiyoshi , Yoshida Yasuko , Kambara Misuzu , Tsukada Kazuko
Published: October 2007

Reserve capacity of Lh and FSH secretion was examined by standarized LHRH loading rest in 30 endocrinologically normal children, whose age ranged from 3 to 13 years.

These sunjects were divided by sex. Both male and female subjects were divided into three groups by their chronological age, that is, Group A: under 6 years, Group B: 7 to 10 years and Group C: over 11 years of age. In the male the peakl values of LH were 10.86 ± 1.9 (mean ± SD) for Group a, 23,3 ± 7.3 for Group B, and 73.13 ± 6.4 mIU/ml for Group C. Corresponding values in the female were 8.58 ± 1.3, 20.56 ± 3, and 60.38 ± 8.5 mIU/ml, respectively. These intergroup differences in the peak LH values weer statistically significant (p<0.01)in both sexes. Regarding peak FSH values, no difference was seen among groups of either male or female cases.

These findings indicate that even in prepuberty the reserve capacity of LH secretion begins to increase around the age of about 7 years.
Combined Passive and Active Immunization for Preventing Perinatal Transmission of Hepatitis B Virus Carrier State
Authors: Tada Hiroshi , Yanagida Masahiko , Mishina Jun , Sato Noriko , Aihara Shinobu , Baba Kiyoshi , Mayumi Makoto
Published: October 2007

With the intravenous and intramuscular injection of HBIG followed by repeated vaccinations, of 223 infants born to HBeAg‐positive HBV carrier mothers, 215 infants were prevented from developing HBV carrier state during a follow‐up period of longer than 12 months. The protective efficacy rate was 95.6%.

During this study, four infants developed HBs antigenemia before the completion of the immunoprophylaxis schedule, and five after the completion of the schedule. Possible preventive methods for these infants for the ultimate prevention of persistent HBV infection are discussed.
Hepatitis B Virus Infection in the Infants Born to HBe Antigen Negative Carrier Mothers: A Preliminary Report
Authors: Shiraki Kazuo , Tanimoto Kaname , Yamada Kazuhito , Okada Takayoshi
Published: October 2007

One hundred infants born to hepatitis‐Be antigen (HBeAg)‐negative carrier mothers were followed with or without the administration of hepatitis‐B vaccine (HB vaccine) and/or hepatitis‐B hyperimmune globulin (HBIG). Among the infants without treatment, 7.6% of the infants born to the antibody‐to HBeAg (anti‐HBe)‐positive carrier mothers and 14% of those born to the carrier mothers without HBeAg and anti‐HBe developed HBs‐antigenemia, whereas none of the infants treated became positive for HBsAg. The results indicate the necessity for preventive measures for the babies born to HBsAg‐carrier mothers, regardless of their HBeAg state.
Functional Abnormalities of Neutrophils in Childhood Acute Leukemia: Decreased Myeloperoxidase and 13‐Glucuronidase Contents and Their Release
Authors: Hara Yoji
Published: October 2007

The myeloperoxidase and β‐glucuronidase contents of neutrophils as total index (T index) and their release induced by formyl‐methionyl‐leucyl‐phenylalanine (FMLP) as stimulation release index (SR index) and percent enzyme release index (%ER index) were assayed in children with acute leukemia at various stages.

T indexes and SR indexes of these enzymes and %ER index of p‐glucuronidase were significantly decreased at onset or relapse (P<O.O5). In complete remission and off therapy, however, these enzyme activities and the enzyme release recovered, although they remained decreased in some patients. On the other hand, %ER index of myeloperoxidase in patients off therapy exceeded the normal range. The myeloperoxidase and β‐glucuronidase contents, and the release of myeloperoxidase (SR index) were significantly lower in patients with recurrent febrile episodes than in those without such complications.

These studies indicate that the myeloperoxidase and β‐glucuronidase contents and their release are closely related to the stages of acute leukemia. The decrease of enzyme contents and enzyme release is one of the possible causes of recurrent infection in children with acute leukemia.
Endocrine Changes of the Hypothalamic, Pituitary and Adrenal Systems in Cyclic Vomiting
Authors: Aritaki Sekoiya , Ogihara Masaaki , Kusakawa Isao , Takamiya Hikari , Hori Yoshihiro , Kawashima Naoshi , Miyajima Tasuku , Chiba Tomoyuki , Tsuyuki Kazumitsu , Takekuma Koji , Matsuno Tetsuhiko , Honda Teruo
Published: October 2007

Children with cyclic vomiting had high blood ADH, ACTH, cortisol and plasma renin activity (PRA) during vomiting, and urinary excretion of 170HCS, 17KGS, 17KS, norepinephrine (NE), epinephrine (E), normetanephrine (NMN), metanephrine (MN) and vanillylmandelic acid (VMA) was increased. After disappearance of the vomiting, the levels fell to within the normal range. Variation was not observed in blood prolactin (PRL), Na, osmotic pressure or urine dopamine (DA). Normal findings were obtained in the intravenous water loading test, response of anterior pituitary hormones and cortisol to the insulin, TRH and LH‐RH loading, the metopirone test and the dexamethasone suppression test which were performed 1 week after the vomiting.
Quantitative Analysis of Cerebello‐Vestibular Function in Congenital Hypothyroidism
Authors: Sato Tamotu , Ishiguro Chiyoko , Watanabe Yukio , Mizukoshi Kanemasa
Published: October 2007

Using computed electro‐nystagmography, quantitative assessment of the cerebello‐vestibular function was performed in 13 patients with congenital hypothyroidism, aged 3 to 20 yrs, during adequate long‐term replacement therapy. Thirty‐two age‐matched children and 127 patients with confirmed cerebellar, brain stem or vestibular disorders served as controls. Routine neurological tests for body equilibrium revealed an abnormal finding in only two patients (15.3%). In contrast, the combination of spontaneous and positional nystagmus, caloric test, visual pendular rotation test, eye‐tracking test and optokinetic nystagmus test revealed abnormalities in 76.9% (10/13). Five patients had impairment of peripheral vestibular pattern, whereas 5 showed vestibulo‐central pattern. The critical factors producing the two different patterns appear to be the initial serum thyroxine level and the time of initiation of the therapy. Severe and long‐standing deficiency of thyroid hormone was associated with vestibulo‐cerebellar impairment, while mild hypothyroidism was associated with vestibular abnormalities. These results confirmed a high incidence of cerebello‐vestibular dysfunction as a neurological sequela of congenital hypothyroidism, even with early replacement therapy. The method affords a tool for objective evaluation of ill‐defined ‘clumsiness’ in congenital hypothyroidism.
Congenital Rubella Syndrome in the Ryukyu Islands: Birth‐Weight and Physical Status Before Two Years of Age
Authors: Tokugawa Ken , Ueda Kohji , Fukushige Junichiro
Published: October 2007

Infants and toddlers with congenital rubella syndrome born in the Ryukyu Islands after the 1965 rubella epidemic were re‐evaluated in regard to birth‐weight and to body length, body weight, and head circumference before two years of age. Cases with cataract (with deafness and with/without congenital heart disease) showed a tendency of lighter birth‐weight (excluding the group with low birth‐weight) and also poorer physical status than the other cases. In general, an overall percentage of 26.0% were observed to show poorer values than the ‐2 standard deviation values of the general population before two years of age (20.6% in boys and 12.5% in girls for body length; 36.7% in boys and 41.9% in girls for body weight; and 27.9% in boys and 10.8% in girls for head circumference).
A Case of 48, XXX, +18 Double Trisomy
Authors: Imai Ikuko , Shimao Satoshi , Suzuki Yoshifumi , Okada Toshio
Published: October 2007

We report a case of double trisomy, 48, XXX, + 18 in a newborn female who had low set ears, prominent occiput, receding chin, overlapping fingers, structural heart disease and other malformations. These deformities are similar to the characteristic manifestations of trisomy 18 syndrome. She died on the 10th day. Autopsy revealed VSD, ASD, PDA, coarctation of the aorta, Meckel's diverticulum and cerebellar hypoplasia.

Our case showed unilateral anomalies on the right side. These may help to suggest the diagnosis of double trisomy.
Immunoreactive Polymorphonuclear Leukocyte Elastase in Complex with Alphal‐Antitrypsin in Kawasaki Disease
Authors: Inamo Yasuzi , Harada Kensuke , Okuni Masahiko , Kimoto Kazuyoshi , Takeuchi Shigeo , Sakurabayashi Ikunosuke
Published: October 2007

Immunoreactive polymorphonuclear leukocyte elastase (iPMN elastase) was measured by ELISA in 36 patients with Kawasaki disease and in 41 patients with anaphylactoid purpura and other infectious diseases of childhood. The iPMN elastase level was very high in Kawasaki disease compared with other diseases. There was no significant correlation in iPMN elastase levels in Kawasaki disease between the complicated and non‐complicated groups in the acute period. The iPMN elastase in the non‐complicated group fell below 250 4g/1 at 20 days from the onset of the illness. However, iPMN elastase in the complicated group (coronary aneurysm or dilatation) tended to remain high above 500 ligjl at 20 days from the onset. We suggest that increased iPMN elastase levels in Kawasaki disease reflect stronger enhancement and stimulation of PMN than in other diseases.
Clinical Significance of Lymphokine‐Activated Killer Activity in Childhood Acute Lymphoblastic Leukemia
Authors: Kato Masao
Published: October 2007

Lymphokine‐activated killer (LAK) activity was studied in 29 children with acute lymphoblastic leukemia (ALL). Peripheral blood lymphocytes of the patients and normal volunteers were cultured in the presence of recombinant‐interleukin 2 (R‐IL2) for five days, and assayed for their LAK activities by 51 Cr release assay using Raji cells as a target. At the time of onset, LAK activity was 4.3±2.6% (mean±SD, n=6) compared to the normal value. During remission LAK activity improved to 49.6±30.2% (n=16, p<0.01). After cessation of therapy LAK activity further improved to 97.3±21.2% (n=7, p<0.01). The conventional anti‐leukemic agents appeared to be suppressive for LAK activity in vitro. Of the patients in remission for more than one year, three with depressed LAK activity relapsed one to four months after the assay. Although it still remains undetermined whether the depression of LAK activity is responsible for the subsequent relapse, the application of adoptive immunotherapy using LAK and R‐IL2 is of clinical interest because it can be expected to enhance the activity of LAK. As compared with natural killer cell activity in childhood ALL, LAK activity showed a prompt improvement after remission.
A Case of Pelvic Osteomyelitis
Authors: Matsukura Hiroyoshi , Higuchi Akira , Suzuki Yoshifumi , Okada Toshio
Published: October 2007

A patient presenting with osteomyelitis of the pelvis is described. In this case it was difficult to establish a correct diagnosis by use of scintigraphic scanning, in spite of clear roentgenographic evidence of osteomyelitis.
In Vitro Effects of Chemotactic Factors on Eosinophil Fc and Complement Receptor Expression
Authors: Walsh G.M. , Moqbel R. , Wardlaw A.J. , Kay A.B.
Published: October 2007

Eosinophils possess membrane receptors for the Fc portions of IgG and IgE and also for fragments of the complement component C3, i.e. C3b (CR1) and C3bi (CR3). A number of mediators of inflammation are known to be able to upregulate eosinophil function in vitro, including increased expression of membrane receptors.

In this study we have utilised a rosette technique to demonstrate the ability of the autacoids PAF‐acether, its inactive precursor lyso‐PAF, leukotriene B4 and histamine to enhance eosinophil immunoglobulin receptor expression. Human monoclonal immunoglobulins co‐valently linked to sheep erythrocytes (E) were used as a measure of functional IgGl and IgE receptor expression, while C3b coated E were utilised as a measure of complement receptor expression. Both PAF‐acether, leukotriene B4 and to a lesser extent, histamine gave significant increases in eosinophil IgGl and IgE rosette numbers in a time and dose dependent manner. Lyso‐PAF had no such effect. Pre‐incubation of eosinophils with PAF‐acether gave dose‐dependent significant increases in C3b rosetting.

These results show that eosinophils can be activated in vitro by a number of autacoids as measured by functional increases in membrane receptor expression. This may represent a facet of in vivo eosinophil activation with possible implications for amplification of the inflammatory response.
Possible Role of Streptococcus pyogenes in Mucocutaneous Lymph Node Syndrome. V. Further Electron Microscopic Observations on Group A Beta‐Hemolytic Streptococci Inoculated into Immune Mice
Authors: Akiyama Takehisa , Osawa Nobutaka , Nakasato Kazumi , Tamaki Hideaki , Yashiro Kimio , Yamaura Noboru
Published: October 2007

In the preceding studies, protoplast‐like “spherical bodies” were detected electron microscopically in mice which were challenged intramuscularly, approximately 15 days before, with an attenuated strain of Streptococcus pyogenes. The “spherical bodies” were 0.5–1.5 Mm in diameter, poor in ultra‐structural preservation of the cytoplasm, devoid of cell walls, and indistinguishable from those discovered in the buffy coat of peripheral blood from patients with mucocutaneous lymph node syndrome (MCLS).

The present investigation was intended to elucidate the intracellular localization of the “spherical bodies” and to understand better the mechanisms responsible for the elimination of viable streptococci from the infected sites. Accordingly, a larger amount of bacterial inoculum was injected i.m. into mice immunized, in advance, against streptococcal infection, and every biopsy specimen was obtained on day 3 postchallenge.

Subsequently, ingested “spherical bodies” were detected under an electron microscope in the cytoplasm of phagocytic cells, including polymorphonuclears, eosinophils and fibroblasts, situated in the perimysium.
A Patient with an Extra psu dic(15) Chromosome
Authors: Sakiyama Takeshi , Noguchi Yasuyuki , Shimizu Hisashi , Kitagawa Teruo , Nakagome Yasuo
Published: October 2007

Before the advent of banding techniques, cases with an extra G‐group chromosome had been reported as non‐mongoloid trisomy G. It has recently been shown that in most cases the extra chromosome is a pseudo‐dicentric 15 consisting of a euchromatic segment bordered on both ends by 15p material. In this report, we describe a girl who has mental retardation (IQ 30), frequent intractable seizures, large ears, cafe‐au‐lait spots on her abdomen and a 47, XX, + psu dic(15) karyotype. The distamycin/DAPI technique was proven to be very useful in the identification of a structural rearrangement involving a chromosome 15.
Site Specific Mapping of Chromosome 21 Gene Probes and the Study of Down Syndrome
Authors: Nakai Hiroshi , Watkins Paul C. , Byers Mary G. , Shows Thomas B. , Tada Keiya
Published: October 2007

Eleven site‐specific gene probes derived from human chromosome 21 were assigned to each region on the original chromosome by in situ hybridization. These probes were isolated from a lambda library, which contains inserts from chromosome 21 in the human‐mouse hybrid cell WA17. This cell contains chromosome 21 as its only human chromosome. These single copy inserts had unique DNA sequence and had been screened for restriction fragment length polymorphism (RFLP) in the DNA of unrelated humans.

Among the eleven probes, five were assigned to 21q22.3, two to 21 ql 1, and the four remaining genes were respectively assigned to 21 ql 1 ‐ 21q21, 21q21, 21q21 ‐ 21q22.1, and a centromeric region. The gene locus of superoxide dismutase‐1 (SOD‐1) was determined to be at 21q22.1. Since region q22 is suggested to be the gene loci of the main features of Down syndrome, probes in the region may yield information about this disorder. A pericentric probe is useful in determining predisposition to non‐disjunction in 21 trisomy. We determined gene loci for these site‐specific gene probes in order to make a complete gene map of the chromosome.
Structure and Function of Interleukins 4 and 5
Authors: Honjo Tasuku , Yaoita Yoshio , Kinashi Tatsuo , Noma Yoshihiko , Naito Takayuki , Azuma Chihiro , Severinson Eva , Sideras Paschalis , Bergstedt‐Lindqvist Susanna , Takatsu Kiyoshi , Tominaga Akira , Harada Nobuhiko , Tanabe Toshizumi , Konishi Mikio , Takahashi Masazumi , Matsuda Fumihiko
Published: October 2007

We have cloned cDNAs for IgG, induction factor and T cell replacing factor. The recombinant factors were shown to have multiple activities on B cells, which could explain most, if not all, of B cell growth and differentiation factor activities so far claimed. Since the recombinant factors were also shown to affect bone marrow‐derived cells other than B cells, the names of interleukins 4 and 5 were proposed for IgG1 induction factor and T cell replacing factor, respectively.
Monoclonal Antibodies Against Human Germ Cell Tumors: Usefulness as Tumor Markers and Differentiation Markers
Authors: Hata Jun‐ichi , Fujimoto Junichiro , Ishii Eizaburo , Tanaka Shigeki
Published: October 2007

Establishment of monoclonal antibodies against human germ cell tumors which detected cell surface antigens, 2A2 and 2G10 (subclass; IgM) are described. Distributions of these antigens in human tumors were studied immunohisto‐chemically. They were expressed on immature endodermal components often seen in yolk sac tumors but not on the other solid tumors in childhood. Regarding their specificities on human germ cell tumor, we have established an ELISA system to detect these antigens from patient's sera. In normal and fetal tissue, on the other hand, they showed quite different distributions. In the kidney, for example, 2A2 and 2G10 were present on collecting tubules and proximal/distal tubules respectively which were already observed in fetal kidney, gestational ages 10 weeks. These results indicate the usefulness of these antibodies as the markers for human germ cell tumors and also for somatic cell differentiation.
Congenital Nephrotic Syndrome with Focal Segmental Glomerular Sclerosis, Renal Insufficiency and Tubular Dysfunction
Authors: Igarashi Takashi , Shibata Toru , Iwata Tsutomu , Kamoshita Shigehiko
Published: October 2007

A patient with congenital nephrotic syndrome with focal segmental glomerular sclerosis is reported. There was moderate renal insufficiency, proximal renal tubular acidosis, hematuria and glycosuria. The glomerular basement membrane showed irregular thickening, splitting of the lamina densa and reticulation of the lamina rara interna. In addition to the features of the nephrotic syndrome and renal insufficiency, tubular dysfunction is one of the early manifestations of this disease.
Osteogenesis Irnperfecta in Twins: Case Report and Review of Literature
Authors: Sameshima Koji , Kodama Akihiko , Tshiani Kashama , Matsuda Yukihisa , Miyata Koichiro , Naritomi Kenji
Published: October 2007

A pair of female twins concordant for osteogenesis imperfecta (OI) are reported here. Their clinical features and prognosis are compatible with type III according to Sillence. The literature was reviewed to examine previously reported cases of OI in twins with regard to the Sillence classification. Among the 10 pairs of twins, including ours, there was striking pre dominance of the severe forms of the disease (type II and type III).
Cardiovascular Manifestations in Fabry's Disease — Age‐Related Changes in Hemizygotes and Heterozygotes —
Authors: Yanagawa Yukishige , Sakuraba Hitoshi
Published: October 2007

Fabry's disease is an X‐linked recessive disorder of glycosphingolipid metabolism. Accumulation of neutral sphingolipid in vascular endothelium is known to cause various clinical manifestations, including cardiac problems. Female heterozygotes, however, may be asymptomatic or mildly affected. Cardiovascular manifestations in Fabry's disease were studied noninvasively in 10 male hemizygotes and 10 female heterozygotes from seven families. Mitral valve prolapse was found in both hemizygotes and heterozygotes. Measured echocardiographic variables were normalized by dividing them by normal values calculated from basal surface area (BSA) and age. Normalized thickness of the interventricular septum [IVS(n)] and left ventricular posterior wall thickness [LVPW(n)] increased significantly with age both in hemi‐ and heterozygotes. [IVS(n): Y=0.94+0.014X (age in years), r=0.68, LVPW(n): Y= 1.03+0.015X (age in years), r=0.64]. The incidence of ST‐T changes in the ECG was also observed in hemi‐ and heterozygotes. A short PR interval was recorded in one hemizygote and one heterozygote from the same family. Thus, heterozygotes appear not to be free from cardiac manifestations, as previously believed. It is possible that the cardiac changes in heterozygotes occur regardless of the amount of sphingolipid accumulation.
Possible Role of Streptococcus pyogenes in Mucocutaneous Lymph Node Syndrome VI. Heightened Cellular Reactivity to Streptolysin‐O in Mice Infected with S. pyogenes and in MCLS Patients
Authors: Akiyama Takehisa , Osawa Nobutaka , Yamaura Noboru , Yasahiro Kimio , Hiraishi Satoshi
Published: October 2007

The present investigations were performed to determine, by using the macro‐phage migration inhibition test (MIT), whether cell‐mediated hypersensitivity to streptolysin‐O (SLO) was developed in mice infected with Streptococcus pyogenes as well as in patients with mucocutaneous lymph node syndrome (MCLS), with the following results:

1. The splenic lymphocytes from murine hosts infected with B‐346 op strain of S. pyogenes, which fails to induce cellular immunity in infected mice, showed a complete lack of responsiveness to SLO. In contrast, the mice infected with streptococci of Sv and S‐43 strains, both of which possess an intrinsic activity of eliciting enhanced cellular hypersensitivity in the same species of animals, exhibited positive responses to the hemolysin from strep‐tococcal culture supernatant.

2. Although a considerable number of MCLS patients in the acute phase of the illness failed to respond to SLO, a complete restoration of their responsiveness was observed in parallel with recovery from the acute illness. Conversely, all patients in the subacute phase of the disease reacted well in vitro to SLO, followed by a gradual decline of their responsiveness over a period of 1–2 weeks.

Furthermore, the implications of these findings are discussed in association with the possible role of S. pyogenes as an etiological agent for MCLS.
We Mean Well: Treatment of Mendelian Disease
Authors: R. Scriver Charles
Published: October 2007

Genetic disease is important in developed societies and the inborn errors of metabolism are now among the best studied diseases of man. Their cause, pathogenesis and manifestations are extraordinarily well known. Nonetheless, treatment of this class of disease has been leis satisfactory than desired. Treatment must restore homeostasis; it fails to do this in the majority of the inborn errors. We need more knowledge which can be gained only by more research in man and animals. Transgenic studies (in animal models) will reveal aspects of pathogenesis long before they offer an opportunity for treatment in man. Transfection and transkaryotic studies will benefit some patients sooner. In the meantime, euphenic modes of treatment offer our best opportunities limited now more by insights on the problem and constraints on research to examine them than by the continuing challenge presented by our patients.
Bone Marrow Necrosis Associated with Medulloblastoma
Authors: Nakayama Tetsuo , Kabe Kazuhiko , Nakamoto Rumiko , Ikeda Nobuhiko , Urano Takashi , Osano Mitsuru
Published: October 2007

A 9‐year‐old Japanese boy with bone marrow necrosis associated with metastatic medulloblastoma is reported. The diagnosis of bone marrow necrosis was obtained nine months after operative removal of the medulloblastoma. Bone marrow necrosis was treated with a combination chemotherapy, but unfortunately he died of disseminated metastasis of medulloblastoma. This case suggests that the prognosis of bone marrow necrosis would be attributable to the behavior of the original tumor.