bluuebunny/crossref_metadata_2025 huggingface dataset:
Persistent vacuoles in leukocytes: Familial Jordans anomaly
Authors: ULUKUTLU LAMIA , KOÇ ÖMER N. , TAŞYÜREKLI MUSTAFA , ÇULLU FÜGEN , TÜZÜNER NÜKHET , ULUTIN ORHAN N. , ÖZ FERIHA , SEGER REINHARD A. , SAǦLAMER LEBRIZ
Published: January 2011

Multiple persistent vacuoles were seen in the neutrophils, monocytes and eosinophils of a 9 year old boy and his 10 year old sister. The siblings were both asymptomatic. In the bone marrow, the cytoplasmic vacuoles were also present in the promyelocytes, myelocytes and metamyelocytes, but not in the myeloblasts and they tended to be single and large in immature cells. The cytoplasmic vacuoles did not stain with PAS, Sudan Black or Oil Red O; Sudan III positivity of the vacuoles was found only in a very small number of granulocytes. The vacuoles appeared as round and bright bodies with phase contrast microscopy. By electron microscopy, the vacuoles contained material of low electron density and had no surrounding membrane. Granulocyte functions were unimpaired. Muscle biopsy showed normal morphology. This anomalous vacuolization of the leukocytes is consistent with familial Jordans anomaly.
A female infant successfully treated by ganciclovir for congenital cytomegalovirus infection
Authors: FUKUDA SUMIO , MIYACHI MASANAO , SUGIMOTO SHIGERU , GOSHIMA AKIRA , FUTAMURA MASAHIDE , MORISHIMA TSUNEO
Published: January 2011

An 11 month old female infant, diagnosed as having congenital cytomegalovirus (CMV) infection and suffering from pneumonia and intractable diarrhea, was treated with 9‐(1,3‐dihydroxy‐2‐propoxymethyl) guanine (DHPG), intravenously for 8 weeks. Watery diarrhea ceased and pneumonia associated with massive endotracheal aspirates was reduced. No leukopenia, thrombocytopenia or other side effects were observed during the therapy. The clinical findings suggest that DHPG might be an effective and safe agent for the treatment of both intestinal and lower respiratory CMV infection in young infants.
α‐Mannosidosis: The first Turkish case
Authors: ÇAMUR SERAP , COŞKUN TURGAY , KİPER NURAL
Published: January 2011

We describe a 10 month old boy with α‐mannosidosis who presented with recurrent bronchopneumonia and diarrhea. Facial coarsening, deafness, hepatosplenomegaly, umbilical hernia, pectus carinatum and widespread Mongolian spots were distinguishing features. He also had mild skeletal deformities grouped together as ‘dysostosis multiplex’, and vacuolated lymphocytes on peripheral blood smear. These findings coupled with an abnormal urinary oligosaccharide pattern led to the suspicion of a lysosomal storage disease in the patient which proved to be α‐mannosidosis. An exceptionally low level of α‐mannosidase activity was subsequently found in serum and cultured skin fibroblasts. The patient's brother, who had died at the age of 10 months, had similar features. To the best of our knowledge, this is the first case reported from Turkey.
Granulocyte‐colony stimulating factor levels in cord blood and neonatal peripheral blood
Authors: NAKAYAMA HIDEKI , KUKITA JOHJI , OHGA SHOUICHI , UEDA KOHJI
Published: January 2011

We measured the granulocyte‐colony stimulating factor (G‐CSF) levels in cord blood and peripheral blood obtained from full‐term or pre‐term infants during the first 3 days of birth. The mean G‐CSF level among cord blood (17.2pg/mL) was similar to that of peripheral blood on day 0 (18.3 pg/mL) and day 1 (13.6 pg/mL), while that of peripheral blood on day 0 was significantly higher than on day 2 (10.9 pg/mL) and day 3 (8.8 pg/mL; both P < 0.05). There was no correlation between neutrophil counts and G‐CSF levels. No difference was found in neutrophil counts or G‐CSF levels between infants who weighed more or less than 2500 g at birth. These results suggest that the neonatal neutrophil count depends on regulatory factors other than G‐CSF.
Analysis of child abuse cases admitted in pediatric service in Japan I. Two types of abusive process in low birth‐weight infants
Authors: TANIMURA MASAKO , MATSUI ICHIRO , KOBAYASHI NOBORU
Published: January 2011

A very high rate (43.0%) of low birth‐weight (LBW) was shown in 331 abused/neglected cases reported from pediatric clinics of major hospitals in Japan.

Of 87 LBW cases, 82.8% had medical problems and/or unsatisfactory reunion after non‐home care and were abused at a particular age when each of the problems may have caused difficulties in caring. Two types of processes to abuse these intractable LBW were estimated: (i) abusers with psychiatric, mental problems or poor knowledge abused their children during the first 2 years, presumably because of an inability in child rearing; and (ii) abusers with neurosis or abnormal personality abused at ages over 2 years, complained of difficulties with rearing their children, and were suspected to be unable to cope with the difficulties. In both types, a combination of child and parental problems increased at risk.

Obstetricians and neonatologists, who first encounter both high‐risk mothers while pregnant and LBW, should give due care to the prevention of child abuse.
Interpretation of child sexual abuse from the viewpoint of women's studies
Authors: NAITO KAZUMI
Published: January 2011

Child sexual abuse is interpreted as a triple infringment upon personal rights, and the nature of the problem of child sexual abuse is considered with regard to each of these three aspects, namely violence against women, child abuse and sexual assault.
HLA‐DQB1 allele associates with idiopathic nephrotic syndrome in Japanese children
Authors: KOBAYASHI TAKEHIRO , OGAWA ATSUSHI , TAKAHASHI KATSUAKI , UCHIYAMA MAKOTO
Published: January 2011

HLA‐DQA1 and ‐DQB1 genes were investigated in 30 Japanese children with idiopathic nephrotic syndrome (INS) using the polymerase chain reaction‐restriction fragment length polymorphism method. Compared with control children, there was a significant increase in the HLA‐DQA1 *0501, DQB1 *0301 and DQB1 *0601 alleles, whereas the frequency of DQB1 *0501 showed a significant decrease in the patients. The increase of DQA1 *0501 can be explained as being a result of a linkage disequilibrium with DQB1 *0301. The previous result demonstrating a positive association of DRw6 and DRw8 with INS is also assumed to be attributable to a linkage disequilibrium with DQB1 *0301 and 0601. A total of 83% of patients compared with 37% of controls possessed DQB1 *0301 and/or DQB1 *0601 allele (P < 0.001, RR = 8.6). Only these alleles have alanine at residue 13 and tyrosine at residue 26 in the hypervariable region in the β1 domain of DQB1 gene. These findings suggest that the unique amino acid residues in the DQB1 gene may contribute to disease susceptibility in Japanese children with INS.
Herpes zoster in children with bone marrow transplantation: Report from a single institution
Authors: NAKAYAMA HIDEKI , OKAMURA JUN , OHGA SHOUICHI , MIYAZAKI CHIAKI , MATSUZAKI AKINOBU , IKUNO YOSHIKO , UEDA KOHJI , TASAKA HIDEKO
Published: January 2011

Herpes zoster (HZ) has been often observed after bone marrow transplantation (BMT) in childhood. The occurrence of HZ was reviewed in children who received BMT. The clinical features of HZ were reviewed in 44 children who underwent BMT at Kyushu Cancer Center. Among the 35 recipients with a history of varicella before BMT, several factors associated with BMT and the lymphocyte subsets were compared between the patients who developed HZ (HZ + group) and those who did not (HZ‐ group). Twenty‐two recipients (50%) developed HZ; in two‐thirds of these cases (15/22: 68%), HZ occurred between 80 and 120 days after BMT (median 101 days). The recipients treated with busulfan had a higher occurrence of HZ than those treated without it. The patients with Grade II‐IV acute graft‐versus‐host disease (GVHD) developed HZ more frequently. In the HZ + group, the absolute number of lymphocytes, CD3+, CD4+ or CD8+ cells at 3 months was significantly lower than that observed at 12 months after BMT and the CD4/CD8 ratio was significantly lower at 1 month than after 3 months of BMT. In conclusion, recipients were susceptible to HZ at around 100 days after BMT. The development of HZ may be associated with unbalanced T lymphocytes at that time.
Clinical patterns of × linked agammaglobulinemia in Malaysian children
Authors: NOH LM , ISMAIL Z. , ZAINUDIN BMZ , LOW SM , AZIZI BHO , NOAH RM , NASARUDDIN BA
Published: January 2011

X linked agammaglobulinemia (XLA) is rarely reported from developing countries especially from South East Asia. It appears that × linked agammaglobulinemia is less common in certain ethnic groups. It is very uncommon in black people in USA and South Africa. In multiracial Malaysia we have documented five XLA in Malays and Indians but not in the Chinese that constitute about 31% of the population. First degree relatives afflicted with XLA or other primary immunodeficiencies occurred more often in our study. All showed lung involvement although the etiologic organisms involved were atypical, being Gram negative.
Left renal pelvis of male neonates is predisposed to dilatation
Authors: HIRAOKA MASAHIRO , MORIKAWA KIYOSHI , HORI CHIKAHIDE , TSUCHIDA SHINYA , KASUGA KENKO , TOMINAGA TOSHIRO , SUDO MASAKATSU
Published: January 2011

Dilatation of the renal pelvis has been observed as an ultrasonographic finding of ureteral reflux as well as hydronephrosis. However, little information is available on the prevalence of renal pelvis dilatation in neonates. We measured the inner pelvis dimension of the kidneys in 511 apparently healthy neonates (279 boys and 232 girls) using an ultrasound scanner to determine the prevalence of renal pelvis dilatation. Ninety per cent of the neonates had an inner dimension of both renal pelvises below 5 mm. The prevalence of left renal pelvis dilatation of 5 mm or more was significantly higher in the boys than in the girls, 25 (9%) compared to 5 (2%). In contrast, no significant difference was found in the prevalence of right renal pelvis dilatation between the sexes. In the boys, the prevalence of renal pelvis dilatation of 6 mm or more was significantly higher on the left side than on the right. Moreover, the left renal pelvis dilatation of the male neonates had a tendency to persist at 1 month of age. These findings suggest that the left renal pelvis of the baby boy may be predisposed to dilatation.
Treatment of hyperkalemia in children with intravenous salbutamol
Authors: NOYAN AYTÜL , ANARAT ALIİ , PIRTI MELTEM , YURDAKUL ZİYA
Published: January 2011

The aim of this study is to investigate the efficacy and safety of intravenous salbutamol in hyperkalemia. Fourteen children with chronic renal failure, three with acute renal failure and hyperkalemia were treated by intravenous infusions of 4μg/kg salbutamol. Reductions in the mean plasma potassium (K+) concentrations obtained at 40 and 120 min after therapy were statistically significant when compared with the mean plasma K+ concentration at the beginning of therapy (P < 0.01).
Effect of hypocalcemia on muscle in disorders of calcium metabolism
Authors: ISHIKAWA TATSUYA , SAITO MARIKO , MORISHITA HIDEKO , WATANABE ISAMU
Published: January 2011

We reported on three hypocalcemic patients with various serum creatine kinase (CK) levels and Ca metabolic disorders. Two patients with moderate hypocalcemia had increased CK levels (hyper‐CK‐emia), which normalized during treatment for the hypocalcemia; a negative correlation between the Ca and CK levels was observed in both patients. The remaining patient with mild hypocalcemia had a normal CK level. We discuss the effect of hypocalcemia on muscle in our patients as well as previously reported patients. Muscle may respond to hypocalcemia in three stages, namely homeostatic, asymptomatic hyper‐CK‐emic and myopathic stages.
Peripheral blood lymphocyte subpopulations in three infants with hepatosplenomegaly caused by cytomegalovirus infection
Authors: KANEGANE HIROKAZU , SHINTANI NAOHISA , MIYAMORI CHIAKI , IRIMICHI HIDEKI , MIYAWAKI TOSHIO , TANIGUCHI NOBORU
Published: January 2011

Mononucleosis is defined as atypical lymphocyte proliferation which causes clinical symptoms such as tonsillitis, lymphadenopathy, or hepatosplenomegaly. Mononucleosis syndrome is caused by cytomegalovirus (CMV), Toxoplasma, hepatitis virus, adenovirus, or other agents as well as by Epstein — Barr virus. The syndrome is immunologically characterized by the proliferation of activated T cells (HLA‐DR+ T cells). We encountered three infants with hepatosplenomegaly who were diagnosed as primary CMV infection by the detection of anti‐CMV IgM antibody. Although the patients were otherwise asymptomatic, analysis of lymphocyte subpopulations showed a decreased ratio of CD4+ to CD8+ T cells and augmented expression of HLA‐DR antigen on T cells characteristic of infectious mononucleosis. We conclude that inapparent CMV disease may affect the immunologic status of infected children even if it is asymptomatic.
Serratia marcescens lung abscess in a child with autoimmune neutropenia
Authors: MIZOTA MICHIYO , KAWAKAMI KIYOSHI , IJICHI OSAMU , TAKEZAKI TOSHIRO , MIYATA KOICHIRO
Published: January 2011

Though Serratia marcescens is widely known to be the cause of serious infections in immuno‐compromised hosts, a lung abscess caused by S. marcescens is very rare. A 5 year old boy who had previously been diagnosed with autoimmune neutropenia was admitted because of fever and cough. In spite of treatment with some antibiotics, he developed a lung abscess. Aspiration of the pleural fluid revealed that S. marcescens was the pathogen of the disease. In the present case, there were feasible risk factors for the development of Serratia lung abscess namely neutropenia, chronic gingivitis at the time, and treatment with cyclosporin A. There are no reported cases of autoimmune neutropenia which developed into a S. marcescens lung abscess in the literature as far as we can determine.
Successful treatment of retinoic acid syndrome with high‐dose dexamethasone pulse therapy in a child with acute promyelocytic leukemia treated with ATRA
Authors: ASAMI KEIKO , SASAZAKI YOSHIHIRO , UTSUMI JIROU
Published: January 2011

A 5 year old female developed femoral pain, fever, and hemorrhagic tendency. She was diagnosed as having acute promyelocytic leukemia (APL). Approximately 2 weeks after the administration of all‐trans retinoic acid (ATRA), she developed a high fever, edema, and respiratory distress which met the criteria for retinoic acid syndrome. At first, we tried to treat the patient with oral corticosteroid, however, this approach was unsuccessful. Considering the worsening of her condition, we then chose to administer a large dose of intravenous dexamethasone therapy for 3 days. Immediately after this therapy, she became afebrile, respiratory distress and edema disappeared, and there was a general improvement of the symptoms. All‐trans retinoic acid at the reduced dose of 25 mg/m2, was continued for an additional 6 weeks and then discontinued. Since the cessation of dexamethasone and ATRA, there has been no relapse of APL in this patient. Although based on only one case, we recommend the intravenous high‐dose dexamethasone pulse therapy (13 mg/m2 per day, for 3 days) for treating retinoic acid syndrome which develops in pediatric APL patients treated with ATRA.
Disappearance of neutrophil fluctuations in a child with cyclic neutropenia by combination therapy of granulocyte colony‐stimulating factor and high‐dose immunoglobulin
Authors: ISHIDA YASUSHI , HIGAKI AKI , TAUCHI HISAMICHI , YOKOTA YOSHIKO , MATSUDA HIROSHI
Published: January 2011

We report on a patient with cyclic neutropenia who was treated by granulocyte colony‐stimulating factor (G‐CSF) and high‐dose immunoglobulin. The serial examination revealed cyclic fluctuations in the numbers of neutrophils, monocytes, platelets in peripheral blood, and in the serum G‐CSF concentration. Bone marrow examination confirmed a cyclic fluctuation of both progenitor cells (CFU‐GM) and CD10‐positive B cells. The therapy of G‐CSF followed by high‐dose immunoglobulin achieved a disappearance of neutrophil oscillations. It suggested that the combination therapy of G‐CSF with high‐dose immunoglobulin might be effective for cyclic neutropenia.
Peripheral expansion of Vδ1‐Jδ1/Jδ2+γδT cells and large granular lymphocytes in a patient with Wiskott‐Aldrich syndrome
Authors: MIZUNO YUMI , MORIO TOMOHIRO , HARA TOSHIRO
Published: January 2011

A 7 month old Japanese boy was diagnosed to have Wiskott‐Aldrich syndrome (WAS) because of eczema, thrombocytopenia, progressive immune defect and CD43 (sialophorin) abnormality. He had developed repeated infections since 16 months of age. γδT cell‐receptor positive T cells in the peripheral blood were gradually increased from 3.1% (7 months of age) to 5.6% (12 months), 19.6% (18 months) and 56.7% (25 months). The phenotypes of expanded γδT cells were δTCS1‐positive (Vδ1‐Jδ1/Jδ2) and CD8 dim‐positive. The proportion of increased granular lymphocytes correlated well with that of γδT cells. The significance of peripheral expansion of γδT cells and granular lymphocytes in WAS is discussed.
Persistent chorea following cardiac surgery for congenital heart disease
Authors: OSARI SHIN‐ICHI , MURANAKA HIDEKI , KOJIMA TADASHI , KIMURA YOSHIHARU
Published: January 2011

We describe a 6 year old girl with chorea following cardiac surgery, the first such report in Japan. The radical operation for total anomalous pulmonary venous return was carried out at the age of 11 months under hypothermia. Seven days after the operation, a sudden onset of irritability, dysphagia, chorea, generalized hypotonia, and complete external ophthalmoplegia were seen. These symptoms diminished gradually, but chorea remained. We speculated that the cause of chorea arose from the cardiac surgery under hypothermia. It is necessary to consider ‘cardiac surgery’ as one of the triggers of certain movement disorders including chorea. We tried treatment with haloperidol, pimozide, and several other drugs; only pimozide was effective in decreasing chorea without any side‐effects.
Clinical study of heavy‐for‐dates neonates
Authors: WATANABE YOKO
Published: January 2011

Incidence and morbidity rates of heavy‐for‐dates (HFD) term neonates were examined to elucidate whether HFD neonates are at high risk. At the same time the criteria for HFD, defined by the fetal growth curve published in 1983 by the Ministry of Health and Welfare, were evaluated. A sample of 15377 term neonates who were born between 1984 and 1990 were obtained. Still‐births and neonates from non‐Japanese mothers were excluded. The overall incidence of HFD neonates was 5.13%. The morbidity rate excluding idiopathic hyperbilirubinemia was 10.0%, which increased with gestational age and was accompanied by an increment of birth trauma. The main diagnosis of hospitalization of HFD neonates was birth trauma followed by respiratory disorders. The incidences of hypoglycemia and polycythemia, regarded as major problems of HFD neonates, were low. The main causes of hospitalization of HFD neonates are associated with difficulty at delivery due to their heavy weight. There were no significant differences in the morbidity rate of neonates defined by the deviation of birth‐weight from the mean + 1.3 s.d. to + 2.5 s.d. On the other hand, neonates of birth weight over 3750 g had significantly high morbidity rates. Criteria defined by the absolute birth‐weight of over 3750 g are more appropriate to screen risk neonates with heavy weight rather than the criteria for HFD as being above mean birth‐weight + 1.5 s.d.
Dependence of canine right coronary arterial flow upon heart rate and right ventricular pressure
Authors: OKI NAOKI , AWA SYOICHI
Published: January 2011

There is a paucity of knowledge regarding right coronary pulsatile hemodynamics when the right ventricle is under hemodynamic overload as is often the case in pediatric patients with congenital cardiac anomalies. To elucidate the exact mechanisms for the right coronary artery (RCA) to cope with the overload, we studied nine open‐chest adult Beagles and analyzed the flow signals of the RCA in relation to independently varied heart rate (pacing) and right ventricular pressure (pulmonary artery banding).

Both increased heart rate and right ventricular pressure increased the total volume flow of the RCA. The diastolic over total flow ratio (D/T), however, enlarged on increasing right ventricular pressures while it declined on increasing heart rates. Our data confirmed, as well, that increased flow of RCA on rising heart rate was provided mainly by an increase in systolic phase, while the increase on augmented right ventricular pressure was provided by the increase in diastolic phase. The RCA manages to deliver blood to the right ventricular musculature in two different ways in response to increasing heart rate and right ventricular pressure.
Indirect hemagglutination assay for antibodies to Escherichia coli lipopolysaccharides O157, O111 and O26 in patients with hemolytic uremic syndrome
Authors: MOROOKA TATSUYA , MATANO HIROMI , UMEDA AKIKO , ODA TEIICHI , AMAKO KAZUNOBU , KARMALI MOHAMED A
Published: January 2011

We examined sera from 10 patients with hemolytic uremic syndrome (HUS) and 51 controls, with and without diarrhea, for antibodies to Escherichia coli lipopolysaccharides (LPS) O157, O111 and O26 using the indirect hemagglutination (IHA) assay. A significant rise (to a titer of ≥ 2560) in IHA antibody to O157 LPS was detected in eight of the 10 HUS patients, to O111 in two patients, one of whom showed concomitantly an antibody rise to O157, but to O26 in no patients. The IHA titers fell rapidly after the acute phase of the illness. Of the control sera 15 (29.4%) non‐specifically agglutinated uncoated sheep red blood cells (SRBC) at a titer of ≥80, six (3.9%) at ≥320 and the maximum was 640. In spite of the relatively low level of non‐specific agglutination the IHA appeared to be a useful screening method to identify verotoxin‐producing E. coli infections at the early stage of HUS because the titers were clearly higher than non‐specific agglutination and the assay is easy to perform and gives results quickly. Artificial carriers are being considered for use in place of SRBC to diminish the non‐specific hemagglutination.
Trends in survival of childhood malignancy for the past three decades I: Leukemia, malignant lymphoma, neuroblastoma, retinoblastoma and neoplasms of the urinary and digestive organs
Authors: SAITO TOMOHIRO ,   THE COMMITTEE FOR THE STUDIES OF THE TREATMENTS,   THE BIOLOGICAL CHARACTERISTICS OF CHILDHOOD CANCERS
Published: January 2011

Survival of some types of childhood neoplasms has improved considerably but remained poor for other types. Improvement in survival rate of common types of childhood neoplasms over the past three decades was assessed at the largest children's hospital in Japan.

Using the data of the cancer registry of the hospital which recorded all the patients from 1965 to 1993, totalling 1026 cases, survival rate was analyzed for each type of neoplasm categorized by the S‐classification for childhood neoplasms, a modification of the International Classification of Diseases. Survival was assessed for five 5 year periods from 1965 and a 4 year period from 1990–93.

The 5 year survival rate for all neoplasms combined improved from 21.8% in the 1965–69 period to 73.3% in the 1985–89 period. Female patients' survival was better than male patients' in all periods. The improvement in survival rate was considerable for leukemia and malignant lymphoma, fairly good for neoplasms of the renal (mostly Wilms' tumor) and digestive (mostly hepatoblastoma) organs and moderate for neuroblastoma.

Overall, survival rates of childhood neoplasms improved considerably. Much of this improvement was explained by a great improvement in survival rates of neoplasms of the blood which constituted the majority of patients.
Trends in survival of childhood malignancy for the past three decades II: Neoplasms of the respiratory, skeletal, genital, skin and endocrine organs and malignant teratomas
Authors: SAITO TOMOHIRO ,   THE COMMITTEE FOR THE STUDIES OF THE TREATMENTS,   THE BIOLOGICAL CHARACTERISTICS OF CHILDHOOD CANCERS
Published: January 2011

Survival of childhood neoplasms has improved considerably during the past three decades. Improvement in survival rate for relatively infrequent neoplasms was assessed based on data obtained from the largest children's hospital in Japan.

Using the data of the cancer registry of the hospital which recorded all the patients from 1965 to 1993 totalling 1026 cases, survival rate was analyzed for each type of neoplasm categorized by the S‐classification for Childhood Neoplasms, a modification of the International Classification of Diseases. Survival was assessed for three 10 year periods from 1965 for infrequent neoplasms and for two 15 year periods for rare neoplasms.

Improvement of survival was considerable in the neoplasms of the respiratory organs, genital organs and germ cell tumors, moderate in bone tumors and poor in the muscle and connective tissues.

In conclusion, in some types of relatively infrequent neoplasms, survival improved considerably. But in soft parts and connective tissues (mostly rhabdomyosarcoma) improvement of survival was poor.
Comprehensive treatment of advanced neuroblastoma involving autologous bone marrow transplant
Authors: MUGISHIMA HIDEO , HARADA KENSUKE , SUZUKI TAKASHI , CHIN MOTOAKI , SHIMADA TOSHIAKI , TAKAMURA MAYUMI , SHICHINO HIROYUKI , FUJISAWA TAKAHITO , ICHIKAWA MASATAKA , IWATA MITSUMASA , OKABE IKUO , SANUKI EIICHI , TANAKA YOSHIAKI , ONUMA NAOMI , TANABE MASAHIRO , OKAMATSU TAKAO , KOIZUMI SHOICHI , KAJIMOTO TERUHO , SERINE ISAO , OKADA NOBORU , YOKOYAMA JOTARO , KATO SYUNICHI , SAEKI MORIHIRO , AKATSUKA JUNICHI , KIKUTA ATSUSHI , TSUKIMOTO ICHIRO , KITO HIDEYUKI , MIMAYA JUNICHI , FUJIMOTO TAKEO , OHIRA MUTSURO , KANEKO MICHIO , TSUCHIDA YOSHIAKI
Published: January 2011

Encouraging results are reported with high‐dose chemotherapy and total body irradiation followed by autologous bone marrow transplantation in the treatment of advanced neuroblastoma. However, relapse remains a significant problem.

We used high‐dose chemotherapy, surgery, intraoperative radiation and an autologous bone marrow transplant treated in vitro to remove tumor cells followed by 13‐cis‐retinoic acid to treat 36 children with advanced neuroblastoma. This comprehensive treatment appears to improve the survival rate of patients with advanced neuroblastoma, including those with N‐myc amplification and bony involvement. The disease‐free survival rate was 66% (95% confidence interval, 49–84%) at 3 years. All patients who received 13‐cis‐retinoic acid developed cheilitis, but no bone marrow depression occurred in these patients. Five patients developed hemolytic uremic syndrome (HUS) post‐transplant. This may have been related to the procedure used for total body irradiation. Patients who had their kidneys shielded during this procedure did not develop this syndrome. Patients who received local irradiation at the primary site showed no evidence of relapse in this region, indicating that such therapy may help to prevent a relapse.

These data suggest a high rate of 3 year disease‐free survival with this treatment strategy. The nonrandomized nature of the study and use of multiple modalities precludes analysis of the specific contribution of each.
Lymphocyte subpopulations in children with vitamin D deficient rickets
Authors: YENER ERDAL , ÇOKER CANAN , CURA ALPHAN , KESKINOGLU AHMET , MIR SEVGI
Published: January 2011

Recent studies have shown 1,25(OH)2D3‐mediated modulation of the immune system. We examined lymphocyte subpopulations of 16 children with nutritional rickets. Most of the patients suffered more frequent infection episodes than the control group of 15 healthy children and low serum levels of 25OHD and 1,25(OH)2D, such as 38.2 ± 8.6 ng/mL and 15.7 ± 2.6 pg/mL respectively. This decrease correlated with a significant decrease in total T lymphocytes and an increase in B lymphocytes expressing surface IgA, IgM, IgG molecules. These results suggest that vitamin D plays an important role in the impaired functions of T lymphocytes which may lead to frequent infection episodes in nutritional rickets.
Increased incidence of spina bifida occulta in fluorosis prone areas
Authors: GUPTA SUNIL K , GUPTA RAMESH C , SETH ASHOKA K , CHATURVEDI CHANDRA S
Published: January 2011

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight‐matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region. The proportion of children with spina bifida occulta in these fluoride rich areas was thus 44%. Since this defect occurs during the antenatal period, these observations indicate that an association may exist between spina bifida occulta and high fluoride intake during the antenatal period.
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease
Authors: OHNO ICHIRO , SHINODA KAZUKO , TSUGAWA KEIKO , TAKIZAWA NOBORU , TANIGUCHI NOBORU , KIMURA SEIJI
Published: January 2011

A 13 month old boy was found to have severely reduced β‐galactocerebrosidase activity suggesting infantile Krabbe disease. Clinically, the patient showed a progressive neurological deterioration with white‐matter disease on radiological study. Axillary skin biopsy was performed to support the diagnosis. On electron microscopy, needle‐like inclusions, which are the typical finding seen in the cytoplasm of astrocytes and Schwann cells in the classic infantile form, were present in eccrine sweat gland epithelial cells. This method is useful for diagnosis when nerve biopsy and biochemical analysis are not readily available.
Type la glycogen storage disease with focal nodular hyperplasia in siblings
Authors: TAKAMURA MAYUMI , MUGISHIMA HIDEO , OOWADA MISATO , HARADA KENSUKE , UCHIDA TOSHIKAZU
Published: January 2011

Glycogen storage disease type I (GSD‐I) is an inherited disorder that is due to a glucose‐6‐phosphatase (G6Pase) deficiency. There have been recent reports of hepatocellular tumors in adults with this disease. Hepatic adenoma is the most common tumor described but others, including hepatocellular carcinomas, hepatoblastomas, and focal nodular hyperplasia (FNH) have been reported.

FNH of the liver is a rare benign lesion that has been reported in eight patients with GSD‐I. Three of these eight patients, in addition to the patient in our study, had been treated with portacaval shunts. When these patients were compared with patients who had not received such treatment, it appeared that the portacaval shunts may have induced the development of FNH and may have been associated with earlier complications.

FNH is a benign tumor that may coexist with adjacent fibrolamillar carcinomas and/or adenomas and requires careful follow‐up.
Transient dilatation of the abdominal aorta in an infant with Kawasaki disease associated with thrombocytopenia
Authors: MIYAKE TOSHIHARU , YOKOYAMA TATUO , SHINOHARA TOHRU , SETO SHIRO , OIKI MIHO
Published: January 2011

We report on an 8 month old infant with Kawasaki disease associated with giant coronary aneurysms and transient thrombocytopenia. The patient's platelet count decreased to 24000/mm3 on the 31st day of illness and fibrin degradation product was 5 μg/mL. Platelet count increased to the normal level (357000/mm3) on the 35th day of illness. On the 27th day of illness, dilatation of the distal abdominal aorta adjacent to the bifurcation of the iliac arteries was observed by B‐mode and color Doppler ultrasonography. It gradually returned to a normal size by the 45th day of illness. Aspirin administered from the 3rd to the 26th day of illness was replaced with flubioprophen because of liver dysfunction. Although we can not eliminate aspirin allergy as the cause of the transient thrombocytopenia, we think that the thrombocytopenia may have been related to the regression of the abdominal aorta.
Selective IgA deficiency with unusual features: Development of common variable immunodeficiency, Sjögren's syndrome, autoimmune hemolytic anemia and immune thrombocytopenic purpura
Authors: SANAL ÖZDEN , ERSOY FÜGEN , METÍN AYSE , TEZCAN ÍLHAN , BERKEL A. ÍZZET , YEL LEMAN
Published: January 2011

We report on a girl with selective IgA deficiency and persistently low complement component 4 (C4) levels compatible with heterozygous C4 deficiency. Deterioration of her serum immunoglobulin levels and transition to common variable immunodeficiency were observed within a 5 year follow‐up. She also developed Sjögren's syndrome, autoimmune hemolytic anemia and immune thrombocytopenic purpura While these abnormalities have been described before in various combinations, to our knowledge, they have not been reported in a single individual.
Hypothyroidism and hypoparathyroidism in an 11 year old boy with hemochromatosis secondary to aplastic anemia
Authors: HIMOTO YUUSUKE , KANZAKI SUSUMU , NOMURA HIROAKI , ARAKI TORU , TAKAHASHI YUKIO , SEINO YOSHIKI
Published: January 2011

This is the first reported case, to our knowledge, of hypoparathyroidism and hypothyroidism due to secondary hemochromatosis with onset during childhood. The patient was a boy with refractory aplastic anemia in whom primary hypothyroidism and hypoparathyroidism became apparent at the age of 10 and 11 years old, respectively. He had received a total of 100 L of transfused blood by the age of 10 years. The patient showed poor annual height gain due to primary hypothyroidism, together with hypocalcemia, cataract and intracranial calcification due to hypoparathyroidism. The early appearance of both thyroid and parathyroid dysfunction in this patient may have been due to the delay of initiation of iron‐chelating agents and liver dysfunction due to hepatitis type C.
Treatment of a stage I testicular yolk sac tumor with vascular invasion
Authors: IKEDA HITOSHI , MATSUYAMA SHIRO , SUZUKI NORIO , TAKAHASHI ATSUSHI , KUROIWA MINORU , NAGASHIMA KIKUO , HIRATO JUNKO
Published: January 2011

There is controversy concerning the treatment of stage I yolk sac tumor of the testis, particularly of those with histological factors that indicate a high risk of relapse. Usually orchiectomy alone is sufficient and adjuvant chemotherapy is unnecessary. Retroperitoneal lymphadenectomy is indicated for patients with persistently high alpha‐fetoprotein. Once recurred, treatment at that time is thought to be curative. However, postoperative chemotherapy may be necessary for patients with a tumor expressing histological factors that predict possible relapse. In this paper we report on a case of a 2 year old boy whose tumor invaded the testicular veins. The patient suffered from recurrent disease but was successfully treated by chemotherapeutic regimens including cisplatin and retroperitoneal lymphadenectomy. The importance of the histological factors in making a decision on the treatment strategy for stage I testicular yolk sac tumor is discussed.
Successful autologous bone marrow transplant for relapsed Ki‐1 lymphoma
Authors: TAKAMURA MAYUMI , MUGISHIMA HIDEO , NAGATA TOSHIHITO , SHICHINO HIROYUKI , SHIMADA TOSHIAKI , SUZUKI TAKASHI , CHIN MOTOAKI , HARADA KENSUKE , FUJIMOTO ZYUNICHIRO
Published: January 2011

We report on a 16 year old girl with relapsed Ki‐1 lymphoma and a very poor prognosis. The initial manifestation was multiple bone metastases and lymphadenopathy. The patient achieved remission with modified adriamycin, bleomycin, vincristine, daunomycine therapy. However, 14 months after the completion of therapy, relapse occurred in a new cervical lymph node on the left side. After preparation with chemotherapy and total lymphoid irradiation (TLI) the patient underwent autologous bone marrow transplantation (A‐BMT).

Ki‐1 lymphoma shows clinically diverse symptoms, but hematopoietic stem cell transplantation should be performed in relapsed cases. It may be effective to give TLI followed by A‐BMT for patients such as ours who have lymph node involvement without bone marrow metastasis.
Consideration of Helicobacter pylori infection in childhood: Immune response, endoscopic and morphological findings
Authors: STUDENIKIN MITROFAN YA , NIJEVITCH ALEXANDER A , MUTALOV AIRAT G
Published: January 2011

Seventy‐five children (aged 9–14 years) infected with Helicobacter pylori were studied endoscopically and morphologically for the signs of infection and immune response by ELISA technique (total IgE and specific IgG against H. pylori); a control group of 36 children (not infected with H. pylori) were studied simultaneously. Helicobacter pylori positive children examined endoscopically revealed a number of mucous membrane changes including erythema, erosions, lymphoid nodular hyperplasia and ulcers. Gastritis was confirmed by histology in 58 children; 6% were termed ‘active’, others were ‘non‐active’. When studying the concentrations of anti‐H. pylori IgG in children from the control group they were considered to be seronegative but in children infected with H. pylori a considerable increase was noted. An evaluation of the interaction between anti‐H. pylori IgG titers and age, endoscopic signs and histology was carried out. Suppositions were made about the presence of links between these characteristics. Children with H. pylori infection showed a considerable increase of total IgE titers in comparison with the control group. The role of IgG and IgE in the development of chronic gastroduodenal diseases associated with H. pylori is discussed.
Patterns of 24 h intragastric acidity in duodenal ulcers in children: The importance of monitoring and inhibiting nocturnal acidity
Authors: YAMASHIRO YUICHIRO , SHIOYA TAKEHIRO , OHTSUKA YOSHIKAZU , NAGATA SATORU , OGUCHI SATOSHI , SHIMIZU TOSHIAKI , SATO MITSUYOSHI
Published: January 2011

The objective of this study was to compare the gastric acidity patterns of patients with duodenal ulcers and| normal children. Eight patients with duodenal ulcer had their intragastric pH monitored for two consecutive 24 h periods using intragastric glass electrodes. The first 24 h period elucidated pH patterns in the absence of treatment and the second period evaluated the acid suppressive effect of 15 mg/kg of cimetidine when given in three divided doses. Results showed that the ulcer patients were hyperacidic, particularly at midnight. This finding was in marked contrast to the results obtained in the study of normal controls. The mean pH of normal children was above 3 around midnight. This phenomenon is known as intragastric pH inversion. The mean pH 3 time (the cumulative duration of the time for which gastric pH is maintained at ≥ pH 3) was significantly shorter in patients with ulcers. However, pH 3 time of these patients significantly increased throughout the 24 h recording period during the daytime and at night after the introduction of cimetidine. This resulted in an induction of apparent nocturnal intragastric pH inversion for the ulcer patients. This study demonstrates the usefulness of 24 h continuous intragastric pH monitoring in children. The data showed that there was a pattern of gastric hyperacidity in pediatric ulcer patients which is clearly distinct from that of normal children, particularly in the patterns occurring at midnight. Cimetidine at 15 mg/kg per day in three divided doses was effective in suppressing secretion even at night.
Detection of immunodeficiencies and persistent infections by urinary neopterin measurement
Authors: HARA TOSHIRO , MATSUO MUNEAKI , TASAKI RYUJI , MIYAZAKI SUMIO , BAMBA MASAHIRO
Published: January 2011

We evaluated the clinical significance of measurement of urinary neopterin levels in primary immunodeficiencies and persistent infections exclusively at afebrile or asymptomatic periods. Despite the examinations at afebrile or asymptomatic periods, urinary neopterin levels were elevated in some patients with primary immunodeficiencies and in patients with persistent infections of human immunodeficiency virus (HIV) or Epstein‐Barr virus (EBV). Therefore, urinary neopterin measurement at afebrile periods will be useful as one of the screening tests in the detection of such disorders among children with occasional episodes of infections.
Lipoprotein (a) and apolipoprotein A‐1 and B in schoolchildren whose grandparents had coronary and cerebrovascular events: A preliminary study of 12–13 year old Japanese children
Authors: OKADA TOMOO , SATO YOSHIYUKI , YAMAZAKI TAKAHIRO , IWATA FUJIHIKO , HARA MITSUHIKO , KIM HIDEAKI , KARASAWA KENSUKE , AYUSAWA MAMORU , FUCHIGAMI TATSUO , HARADA KENNSUKE , OKUNI MASAHIKO , RYO SHIGEO
Published: January 2011

The aim of this study was to evaluate the relationship between the serum levels of lipoprotein (a) [Lp (a)] and apolipoproteins (apo A‐1 and apo B) in schoolchildren with a history of coronary and cerebrovascular events in their grandparents.

We measured serum concentrations of Lp (a) and apoliproteins immunochemically in 289 schoolchildren aged 12–13 years and questioned parents about coronary and cerebrovascular events in the children's grandparents. In boys and girls, mean ± s.d. levels of apo A‐1, apo B and Lp (a) were 134 ± 20.3 and 136 ± 17.4 mg/dL, 61 ± 16 and 66 ± 15 mg/dL and 12.5 ± 15.3 and 12.5 ± 15.1 mg/dL, respectively. There were no significant sex differences in the levels of apo A‐1, apo B, and Lp (a).

The Lp (a) levels (mean ± s.d., 12.5 ± 15.2 mg/dL; median 7.5 mg/dL, n = 289) were not affected by other variables. The Lp (a) distribution was strongly positively skewed and 75% of schoolchildren had very low levels. In the total 289 schoolchildren, thirty‐two grandparents who had had coronary vascular events (21 myocardial infarction, 11 angina pectoris) and twenty‐three grandparents who had had cerebrovascular events were recorded. By the boxplot statistical analysis, no difference was found in Lp (a) levels in children whose grandparents had myocardial infarction compared with those whose grandparents had no such history, or compared with those whose grandparents had suffered cerebrovascular events. Analysis also showed that the values of log Lp (a) in children whose grandparents had myocardial infarction tended to be higher than the values in children whose grandparents had no such history (P = 0.09). No significant differences in the levels of apo A‐1 and apo B and in the apo B/A‐1 ratio could be seen between children grouped according to the presence or absence of coronary and cerebrovascular events in their grandparents.

These results suggest that high levels of Lp (a) in schoolchildren aged 12–13 years may partly reflect the existence of coronary vascular disease in older family members. Lp (a) may account for the strongest index of family history to disease risk in comparison with other apolipoproteins. Further study is needed to clarify the appropriate mass measurement method for Lp (a) in schoolchildren.
Multivariate autoregressive analysis of carotid artery blood flow waveform in an infant of a diabetic mother with cardiomyopathy
Authors: KOJO MASANOBU , OGAWA TERUYUKI , YAMADA KATSUHIKO , SONODA HIROTOMI , SAITO KIYOSHI
Published: January 2011

We analyzed the carotid artery blood flow waveform (CABFW) of an infant of a non‐insulin dependent diabetic mother with hypertrophic cardiomyopathy (IDM cardiomyopathy) through multivariate autoregressive analysis and compared the developmental change of his CABFW with that of normal newborns. The total power was lower than normal newborns on the second and third day of life when his heart dysfunction was severe, and elevated on the fifth day of life when normal‐heart function was recovered. The power of component 3 (C3), of which the damping frequency was 7–11 Hz, was slightly high on the second and third day of life and it decreased to the normal range on the fifth day of life by component analysis. In contrast, the power of C3 increased with decreasing resistance index of anterior cerebral artery (RI of ACA) which shows the cerebral vascular resistance of normal newborns.

These results suggest that the carotid artery blood flow volume decreased by low cardiac output and the cerebral vascular resistance decreased to maintain the cerebral circulation, when the heart dysfunction was severe.
Analysis of the circumstances of death of 56 children suffering from cancer: Proposal for the development of terminal medicine in Japan
Authors: HONGO TERUAKI , FUJII YUJI , YAJIMA SHUHEI , MATSUSHITA TAKASHI , OGAWA NORIKO , KINJO YASUKO
Published: January 2011

In Japan terminal medicine for children dying from cancer has not yet been developed nor has a support system for home terminal care and bereaved families been established. We have analyzed our own experiences in these areas and researched the possibilities of establishing support systems.

In the 16 years from 1978 to 1993, 56 children with cancer have been treated and have died at Hamamatsu University Hospital. We analyzed the circumstances of their deaths. We interviewed 25 sets of parents about their acceptance of their child's death.

Three children (5%) died unexpectedly during treatment, 27 children (48%) died from the side‐effects of intensive treatment, and 26 children (47%) died during terminal care. More children with leukemia and lymphoma died from side‐effects than children with solid tumors (P < 0.05). Six out of the 25 families had not yet accepted the loss of their child due to regrets associated with the missed opportunity for terminal care. From our experiences with the five children who received terminal care at home, we recognize the need for a support system run by the hospital and conclude the time is ripe for initiating home‐based terminal care in Japan.
Length polymorphism of heterochromatic segment of the Y chromosome in boys with acute leukemia
Authors: ERÇAL M DERYA , BRÖNDUM‐NIELSEN KAREN
Published: January 2011

The extent of length polymorphisms of the heterochromatic and euchromatic segment of the human Y chromosome were investigated in 15 boys with acute leukemia and were compared with 15 normal controls. A greater value of the Yh/F index in relation to controls was established (P < 0.05). The length of the euchromatic segment was also shorter in the patients than the controls (P < 0.05).
Atypical hemolytic uremic syndrome
Authors: KAVUKÇU SALIH , İRKEN GÜLERSU , OLGUN NUR , GÜÇLÜ ALEV
Published: January 2011

The pathogenesis of atypical uremic syndrome (HUS), which is rarely encountered in childhood, is poorly understood and its mortality and morbidity rates are high. A wide variety of therapeutic approaches has been attempted and the literature contains numerous conflicting reports about the results of these approaches. In a case diagnosed as recurrent atypical HUS, pulse methyl prednisolone, fresh frozen plasma infusions and plasma exchange transfusion were used at different stages of the disease with satisfactory response.