bluuebunny/crossref_metadata_2025 huggingface dataset:
Extensive white matter involvement in hemorrhagic shock and encephalopathy syndrome
Authors: SHIDA KAORU , MATSUO MUNEAKI , SATO TADASHI , MAEDA YASUFUMI , TASAKI HAKARU , MIYAZAKI SUMIO
Published: January 2011

Reported is a case of hemorrhagic shock and encephalopathy syndrome (HSE) with extensive white matter involvement. A three year old, previously healthy boy was presented with an acute onset of fever, loss of consciousness and convulsions. He had disseminated intravascular coagulation, metabolic acidosis, non‐ketotic hypoglycemia and hepatorenal dysfunction. The computed tomography (CT) scan of his head on the second day of illness demonstrated symmetric, extensive low‐density areas in the cerebral and cerebellar white matter. The child died on the 13th hospital day. A post‐mortem histopathological examination of the liver revealed centrilobular necrosis and infiltration of fatty acid droplets. The concentrations of serum 2′,5′‐oligoadenylate synthetase and urinary neopterin were markedly elevated, indicating excessively activated cell‐mediated immunity. This overproduction of inflammatory cytokines might play an important role in the pathogenesis of the brain lesion as well as in other clinical and laboratory manifestations. The patient had a decreased serum level of α1‐antitrypsin, which may have been associated with the development of uncontrolled inflammation and coagulation disorder.
A case of West syndrome with atypical massive gray matter heterotopia that is well controlled by ACTH therapy
Authors: KUWAHARA MITSUHIRO , SHIMA MIDORI , NAKAI HIROAKI , NISHINO MASATO , FUKUZUMI AKIO , YOSHIOKA AKIRA
Published: January 2011

A 4 month old female infant with atypical asymmetrical massive gray matter heterotopia diagnosed as West syndrome is described. Her seizure initially appeared as afebrile general tonic and clonic convulsion and progressed to typical West syndrome consisting of clusters of myoclonic spasms of the extremities, mainly on the left side, accompanied by head and eye deviation to the right side. Electroencephalogram (EEG) presented typical hypsarrhythmia and cranial computerized tomography (CT) and magnetic resonance imaging (MRI) showed massive heterotopic gray matter in the right hemisphere with the same density or intensity as cortical gray matter. Single photon emission computed tomography (SPECT), using N‐isopropyl‐p‐123I‐iodoamphetamine (123I‐IMP), demonstrated decreased blood flow in the ectopic lesion. Although clinical response to several anti‐epileptic drugs was poor, her seizures were well controlled by relatively low dose adrenocorticotropic hormone (ACTH) therapy of 0.015 mg/kg per day followed by a combination of valproic acid and clonazepam.
Respiratory failure caused by dual infection with Bordetella pertussis and respiratory syncytial virus
Authors: AOYAMA TATSUO , IDE YOSHIAKI , WATANABE JUN , TAKEUCHI YOSHINAO , IMAIZUMI ATSUSHI
Published: January 2011

Two infants with pneumonia caused by both Bordetella pertussis and respiratory syncytial virus (RS virus) suffered respiratory failure preceded by convulsion. Detection of respiratory pathogens with polymerase chain reaction and enzyme‐linked immunosorbent assay was crucial in the management of dually infected infants.
Masked ureteral duplication with ectopic ureter detected by magnetic resonance imaging
Authors: KANEKO KAZUNARI , OHTSUKA YOSHIKAZU , SUZUKI YOSHIHARU , YABUTA KEIJIRO , YAMATAKA ATSUYUKI , MIYANO TAKESHI
Published: January 2011

The usefulness of magnetic resonance imaging (MRI) in the detection of a masked duplex kidney system is described. A 9 year old girl was admitted to our hospital for urinary incontinence. She was found to possess an ectopic ureter associated with complete ureteral duplication. She had been evaluated for incontinence at several hospitals, but neither ultrasound sonography nor intravenous pyelography detected any abnormalities. Only cystoscopic examination and MRI detected the anomalies. Partial nephroureterectomy resolved the patient's incontinence. MRI is useful for the detection of ureteral duplication and should be used on cases in which this condition is suspected, prior to performing invasive procedures.
Frequency of 985A‐to‐G mutation in medium‐chain acyl‐CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan
Authors: NAGAO MASAYOSHI
Published: January 2011

The prevalence of the 985A‐to‐G mutation in the medium‐chain acyl‐CoA dehydrogenase (MCAD) gene among Japanese patients with sudden infant death syndrome, Reye syndrome, unknown fatty acid oxidation disorders and severe motor and intellectual disabilities was studied using the PCR/Nco‐I method for molecular diagnosis. A frequency study of this common mutation was also conducted on blood samples and left over Guthrie cards from 329 healthy newborns in Japan. Neither heterozygotes nor homozygotes for the 985A‐to‐G mutation were identified among both patients and controls. The result of the present study accord with previous reports that MCAD deficiency is a common disorder in Caucasians, but quite rare among Japanese. Therefore, newborn mass‐screening for MCAD deficiency using this method will not be practical in Japan. However, it still seems necessary to investigate a child with fatty acid oxidation disorder for the presence of MCAD deficiency, using both biochemical and molecular genetic methods.
Ventricular arrhythmia and possible myocardial ischemia in late stage Kawasaki disease: Patient with a normal coronary arteriogram
Authors: NAKADA TOSHIMASA
Published: January 2011

Recent research reveals that some patients with a normal coronary arteriogram present with myocardial ischemia in the late stages of Kawasaki disease (KD). The present paper reports a patient who developed ventricular arrhythmia and possible myocardial ischemia in the late stages of KD but whose coronary arteriogram was normal. The onset of KD was at 2 years of age but cardiac involvement including coronary arterial lesion was not detected during the acute stage. At 11 years of age, the Holter electrocardiogram showed both frequent ventricular premature contractions and ventricular tachycardia. The single photon emission computed tomogram demonstrated possible myocardial ischemia. Possible myocardial ischemia was considered to be one of the causes of the ventricular arrhythmia. Although the prognosis for the majority of patients without apparent coronary arterial lesion is excellent, regular follow up must be performed on patients with a history of KD.
SF‐1: A key regulator of development and function in the mammalian reproductive system
Authors: IKEDA YAYOI
Published: January 2011

The orphan nuclear receptor steroidogenic factor 1 (SF‐1) was isolated as a transcription factor expressed specifically in the mouse primary steroidogenic tissues. SF‐1 expression occurs at the earliest stages of adrenal and gonadal development and the expression pattern is sexually dimorphic in gonads during sexual differentiation. The two hormones required for male differentiation, testosterone and Müllerian‐inhibiting substance, are regulated by SF‐1. Analyses of knockout mice lacking SF‐1 by gene targeting disruption demonstrated that the SF‐1‐disrupted mice lack adrenal glands and gonads, supporting the suggestion that SF‐1 is an essential regulator of the endocrine development and differentiation. Additionally, SF‐1 is expressed in the pituitary gonadotropes and the ventrolateral hypothalamic nucleus, which are higher levels of the reproductive regulatory axis, of both adults and embryos. These tissues are also affected in SF‐1 knockout mice, indicating that SF‐1 plays extended roles at all levels of the reproductive axis, by regulating more genes involved in reproductive function and development.
Interleukin 8 and granulocyte elastase α1 proteinase inhibitor complex in the tracheobronchial aspirate of infants with chronic lung disease following respiratory distress syndrome
Authors: TAKASAKI JIRO , OGAWA YUNOSUKE
Published: January 2011

In order to elucidate the role of interleukin 8 (IL‐8) on the development of chronic lung disease (CLD) in neonates following an episode of respiratory distress syndrome (RDS), serial and simultaneous measurements of the concentration of IL‐8 and granulocyte elastase α1 proteinase inhibitor complex (E‐α1 PI) in the tracheobronchial aspirate of very low birthweight infants with RDS were conducted. The concentration of IL‐8 and E‐α1 PI in infants with CLD was low in the first 48 h of life, but dramatically increased after 48 h. The concentration of IL‐8 between 48 h of life and day 5 was significantly correlated to the fraction of inspired oxygen concentration (F1o2) within 48 h of age, but not to the mean airway pressure. Interleukin 8 seemed to stimulate neutrophils to release granulocyte elastase which, in turn, caused lung tissue injury, resulting in the development of CLD. It is suggested that high F1o2 is an important factor causing IL‐8 production in the lung.
Calorie intake in sick versus respiratory stable very low birthweight babies
Authors: LEE JIMMY KF , YU VICTOR YH
Published: January 2011

A comparison between the calorie intake and energy source of sick versus respiratory stable very low birthweight (VLBW, less than 1500 g) babies was made to ascertain the time taken for them to achieve adequate daily calorie intake. It was an observational study of 23 consecutive VLBW babies in which sick respiratory unstable babies were defined as those who required ventilation beyond 72 h of life. Data were collected on the daily fluid and calorie intake for 30 days of life, and beyond if necessary until the babies achieved full enteral feeding and calorie intake of more than 100 kcal/kg per day. Growth parameters at the time of transfer or discharge were also analyzed. In the study, there were 14 sick VLBW and 9 respiratory stable babies with a mean birthweight of 1027 g and 1212 g, respectively. Their mean gestational age (28.7 weeks vs 31.2 weeks), mean age when calorie intake of 100 kcal/kg per day was achieved (19.8 days vs 7.0 days), mean duration of parenteral nutrition (17.1 days vs 2.7 days), mean age when enteral feeds commenced (8.9 days vs 1.7 days) and mean age when full enteral feeding was established (20.6 days vs 7.3 days) were statistically different for the two groups. For the respiratory unstable babies, parenteral nutrition provided more energy than milk until 15 days of life. The average daily energy intake of 100 kcal/kg per day was only achieved by 30 days of life in this group. In the respiratory stable group, milk provided more than 100 kcal/kg per day from 10 days of life. There were no significant differences in somatic growth with regard to bodyweight, length and head circumference for these two groups of babies at the time of transfer or discharge. The daily calorie intake of sick VLBW babies was suboptimal even with the use of parenteral nutrition. The respiratory stable babies, through enteral feeding, easily achieved the recommended daily calorie intake.
Thyroid functions in mild and severe forms of sickle cell anemia
Authors: EVLİYAOǦLU NURDAN , KILINÇ YURDANUR , SARGIN ÖZOǦUL
Published: January 2011

In the present study, the weight, height, bone age and growth indices of 24 children with homozygote sickle cell anemia were measured and the relationship of these parameters to thyroid function was evaluated and compared with 14 healthy controls in the same age group. The patients consisted of two groups with either mild (n = 12) or severe (n = 12) clinical courses. There was no difference between both patient groups or with the control group with respect to weight (P > 0.05). However, the difference between the mean height percentiles of the homozygote‐severe group and the control group was found to be statistically significant (P < 0.05). The bone age remained 41.6% behind normal for age in all homozygote sickle cell anemia patients. The serum T3 and T4 levels of all patients showed no significant differences from those of the control group (P > 0.05). These results show that patients with severe clinical courses may have short stature but their thyroid hormones are within normal limits during the first decade of life.
Possible role for a polysaccharide antigen shared between Streptococcus pyogenes and S. mutans in the pathogenesis of poststreptococcal glomerulonephritis
Authors: OKADA KANAME , HIROTA KATSUHIKO , ZHANG RUI JIN , YASUTOMO KOJI , KUHARA TAKASHI , OTA FUSAO , KAGAMI SHOJI , KURODA YASUHIRO
Published: January 2011

Streptococcus mutans has been shown to share a polysaccharide (PS) antigen with S. pyogenes strains isolated from patients with acute poststreptococcal glomerulonephritis (PSGN), using a monoclonal antibody f‐77 reactive with the PS.1 To investigate the pathogenetic role of the shared PS in PSNG experimental nephritis was induced in animals. Rats were immunized thrice with heat‐killed cells of S. mutans or S. pyogenes, followed by an intravenous injection of live cells of S. pyogenes. Histologic examination showed that both animal groups had comparable degrees of diffuse proliferative nephritis characterized by immune deposits. The shared PS antigen was detected in glomeruli of all nephritic rats by immunofluorescence using monoclonal antibody f‐77. Furthermore, all nephritic rats had an elevated antibody titer to the shared PS antigen. These results suggest that prior sensitization (infections such as dental caries) to S. mutans modulates immune responses to subsequent S. pyogenes infections and induces immune‐complex disease (PSGN) through the shared PS antigen.
Effects of an acaricide on mite allergen levels in the homes of asthmatic children
Authors: CHEW FOOK‐TIM , GOH DANIEL YAM‐THIAM , LEE BEE‐WAH
Published: January 2011

Previous study by the current authors has shown that treating homes with D'Allergen, an acaricidal agent, can reduce bronchial hyper‐reactivity in asthmatic children with house dust mite allergy. In the present study, the effects of a single D'Allergen treatment on the levels of major dust mite allergens, Der p I and Der f I was evaluated, and the duration of its effectiveness in the environment determined. Twenty randomly selected homes were treated with the acaricide and ten remained untreated. Dust samples were collected from mattresses, upholstered sofas and carpets of these homes before and 1, 2 and 4 months after treatment. The samples were then assayed for Der p I and Der f I allergens using a sandwich enzyme immunoassay. The results showed that D'Allergen was effective in reducing dust mite allergen levels in all three niches by 1.5–22.3 times below baseline values. This effect, however, was only present for 2 months, and the dust mite allergen levels increased to those of the baseline by the fourth month after treatment. These results indicated that repeated applications of the acaricide were required at 2–3 monthly intervals to obtain optimal effectiveness.
Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
Authors: SUZUKI YASUYUKI , SHIMOZAWA NOBUYUKI , IMAMURA ATSUSHI , FUKUDA YUKO , ICHIHASHI HIROSHI , ORII TADAO , KONDO NAOMI
Published: January 2011

A female Japanese patient diagnosed with peroxisome biogenesis defect (PBD), who had hypotonia and craniofacial dysmorphism, was given supplementation of docosahexaenoic acid (DHA). Accumulation of very long chain fatty acids was revealed, and a diagnosis of PBD was made at 2 months of age because of the absence of peroxisomes, a defect in peroxisomal β‐oxidation enzymes and a decreased level of DHA in the erythrocytes. Supplementation of DHA was introduced at 3 months of age. For the first several months, psychomotor development was fairly good. The patient could laugh, brush off a blanket and play with toys at 6 months of age. However, neurological regression and convulsions occurred after 7 months of age. After recurrent respiratory infections and disturbance of the circadian rhythm, the patient died of liver failure and disseminated intravascular coagulopathy at 20 months of age. DHA may have a favorable effect on the early development of patients with PBD, but neurological deterioration cannot be prevented. Patients with a milder phenotype would be better candidates for DHA supplementation.
Neuraminidase deficiency presenting as a nephrosialidosis: The first case detected in Poland
Authors: TYLKI‐SZYMANSKA ANNA , ŁUGOWSKA AGNIESZKA , CZARTORYSKA BARBARA
Published: January 2011

A defect of lysosomal neuraminidase (sialidase N‐acetyl‐neuramine acid hydrolase EC 3.2.1.18) leads to a wide spectrum of phenotypes, the most severe of which is nephrosialidosis. A 4‐year‐old boy of related parents, born at term with hydrops fetalis, is reported. Hydrocephalus was detected at 2 months of age. The child's course over 3 years was characterized by slow growth and psychomotor development. He had mild hepatosplenomegaly, joint restriction, gingival hypertrophy, lens opacities and cherry‐red spot. Coarse facial features and depressed nasal bridge were discreet.

At the age of 3.5 years, he developed gradual progressive edema, decreased activity and increased fatigue. A diagnosis of nephrotic syndrome was made because of massive proteinuria. Thin‐layer chromatography of urinary oligosaccharides revealed the presence of several abnormal sialyloligosaccharides. The diagnosis was confirmed by measurement of neuraminidase activity in cultured skin fibroblasts.
Common acute lymphoblastic leukemia preceded by hypercalcemia in an infant
Authors: OHOISHI SATORU , KOSHIBU TATUO , KAZAMA HIROMI , SHINOMIYA NORIAKI , AOKI TUGUTOSHI
Published: January 2011

A case of common acute lymphoblastic leukemia (ALL) preceded by hypercalcemia was observed in an infant. A high blood level of parathyroid hormone related protein (PTH‐rP) was detected during the first examination at Ohashi Hospital. Treatment with antineoplastic agents led to complete remission. The blood PTH‐rP level decreased as a result of treatment. PTH‐rP produced by leukemic cells was thought to be the cause of the hypercalcemia.
Distribution of human herpesvirus 6 and varicella‐zoster virus in organs of a fatal case with exanthem subitum and varicella
Authors: UEDA TAKESHI , MIYAKE YOKO , IMOTO KOJI , HATTORI SHIGENORI , MIYAKE SUSUMU , ISHIZAKI TORU , YAMADA AKIRA , KURATA TAKESHI , NAGAI TAKAO , SUGA SADAO , ASANO YOSHIZO
Published: January 2011

The distribution of human herpesvirus 6 (HHV‐6) and varicella‐zoster virus (VZV) was examined in autopsy samples from a fatal case with both virus infections. A 9‐month‐old boy developed convulsive seizures followed by macular skin rashes, rapidly progressed to brain death, and died 15 days after the onset, when signs of varicella were noted. An isolation of HHV‐6 from blood and evaluation of antibody activities to various viral agents including HHV‐6 were performed before his death. Postmortem examinations included: (i) isolation of HHV‐6 and VZV from tissues or organs; (ii) detection of both virus antigens in tissues or organs by an indirect immunofluorescent assay using monoclonal antibodies to both viruses; (iii) amplification of both viruses and human herpesvirus 7 DNA sequences by a nested polymerase chain reaction assay; and (iv) endonuclease digestion of amplified products of HHV‐6 DNA for differentation of variants A and B.

Human herpesvirus 6 DNA was detected in peripheral blood mononuclear cells (PBMC) and plasma obtained at the eruptive stage but present only in PBMC 15 days after, indicating the primary infection with HHV‐6, although the virus was not isolated from the same blood sample and a significant rise in the antibody titers to HHV‐6 was not observed. Both virus antigens and DNA were detected in various tissues or organs obtained at autopsy, but only VZV was isolated from these samples, suggesting disseminated infection with both viruses in an infant. All the amplified products of HHV‐6 DNA were variant B. Among the findings for the distribution of virus antigens, it was noteworthy that HHV‐6 antigen was demonstrated in the endothelial cells of small vessels in the frontal lobe of the brain. There was no evidence of HHV‐7 infection. These data indicate that the primary HHV‐6 infection closely followed by the primary VZV infection had the potential hazard of an unexpected and apparently life‐threatening event, in which disseminated infections with both viruses were noted in multiple tissues or organs including the brain.
White blood cell count, C‐reactive protein and erythrocyte sedimentation rate in respiratory syncytial virus infection of the lower respiratory tract
Authors: SAIJO MASAYUKI , ISHII TAKUMA , KOKUBO MASAYO , MURONO KOICHI , TAKIMOTO MASATOSHI , FUJITA KOZO
Published: January 2011

Laboratory findings such as white blood cell (WBC) count, C‐reactive protein (CRP) concentration and erythrocyte sedimentation rate (ESR) level in patients with bronchiolitis, bronchopneumonia and lobar pneumonia caused by respiratory syncytial virus (RSV) were studied. The diagnosis of having RSV infection of the lower respiratory tract was made on the presence of RSV antigen in nasopharyngeal specimens by means of enzyme immunoassay, on chest X‐ray appearances and clinical manifestations. The WBC counts in the lobar pneumonia cases (n = 25, 12 288 ± 6296/mm3) were significantly greater than those for the bronchiolitis (n = 52, 9562 ± 2720/mm3) and bronchopneumonia (n = 43, 8369 ± 3714/mm3) cases. The concentrations of CRP in lobar pneumonia cases (n = 25, 6.5 ± 7.3 mg/dL) were significantly greater than those in the bronchiolitis (n = 52, 1.9 ± 2.0 mg/dL) and bronchopneumonia (n = 43, 2.1 ± 2.4 mg/dL) cases. The ESR levels in the lobar pneumonia cases (n = 24, 43.8 ± 29. mm/h) were also significantly higher than those in the bronchiolitis (n = 34, 20.1 ± 12.3 mm/h) and bronchopneumonia (n = 40, 24.7 ± 15.9 mm/h) cases. There were no significant differences in the WBC counts, the CRP concentrations and ESR levels between the bronchiolitis and bronchopneumonia cases. These results suggest that the RSV lobar pneumonia cases are coinfected with some bacterial organisms more heavily than in the RSV bronchiolitis and bronchopneumonia cases.
Survey of family history on allergy in 1‐year‐old and 6‐year‐old children
Authors: MIKAWA HARUKI , FUKUSHIMA YOICHI , BABA MINORU
Published: January 2011

A retrospective survey of a family history of allergy employing a special questionnaire for children was performed. The survey included 1‐year‐old (n = 267) and 6‐year‐old children (n = 410) with allergies as well as 1‐year‐old (n = 313) and 6‐year‐old children (n = 329) without allergies. An ‘Allergy Risk Score’ (ARS) for each subject was calculated according to the history of allergy in three family members: father, mother and a sibling. Each family member was scored as 2.0 (overt history of allergies), 1.0 (provable), 0.5 (possible) or 0 (absent), and the ARS of the subjects was calculated as the total of the family members' scores. The ARS of children in the allergy groups was statistically higher than that of the control groups in both age groups. The ARS increased with an increase in the odds ratio (an approximate value of the risk), especially in 6‐year‐old children. An ARS calculated on the basis of family history could be a useful and practical index for estimating the risk of allergy development in children, and may be helpful in predicting and preventing allergies in infants and children.
Pathological improvement of IgA nephropathy and Henoch‐Schönlein purpura nephritis with urokinase therapy
Authors: WATANABE TAKESHI , TAKAHASHI SHORI , NAKAJO SAORI , HAMASAKI MINORU
Published: January 2011

The pathological findings of 13 patients with immunoglobulin A (IgA) nephropathy or Henoch‐Schönlein purpura nephritis before and after urokinase (UK) administration were investigated retrospectively. The mean activity index value decreased significantly at the time of the second biopsy compared with that of the biopsy before UK treatment. The mean chronicity index value, which was considered to reflect the renal outcome, before and after UK treatment did not change significantly, although it improved significantly in six patients. Immunofluorescence microscopy showed that the immune deposition of C3 decreased, but that of IgA and fibrin‐related antigen were unchanged, by UK therapy. These results suggest that UK may prevent the mesangial proliferation associated with IgA nephropathy and Henoch‐Schönlein purpura nephritis not only by its fibrinolytic action, but also by other mechanisms, such as digestion of the mesangial matrices.
Comparison of two fetal growth curves in screening for high‐risk neonates
Authors: SAKATA YASUKO , NISHIDA HIROSHI
Published: January 2011

The International Statistical Classification of Diseases and Related Health Problems (ICD‐10) defines the 10th percentiles on the fetal growth curve as the cutoff point for light‐ and small‐for‐gestational‐age infants, instead of the mean body weight −1.5 standard deviation (SD) on the fetal growth curve, which has been used in Japan since 1983. Data on a 5260 sample of term neonates who were born during the 30‐month period between January 1993 and June 1995 were obtained. The clinical usefulness of the 10th percentiles and mean bodyweight −1.5 SD cutoff on the fetal growth curve as screening criteria for high‐risk neonates of light‐ and small‐for‐gestational‐age infants was evaluated. There was a statistically significant higher morbidity rate among the neonates whose birthweight was below mean bodyweight −1.5 SD than for those whose birthweight was below the 10th percentile cut off. But there was no significant difference between the morbidity rate of neonates whose birthweight was between mean bodyweight −1.5 SD and the 10th percentile cutoff and the morbidity rate of neonates whose birthweight was above the 10th percentile cutoff. Therefore, mean bodyweight −1.5 SD on the fetal growth curve is a more effective means of screening for high‐risk light‐ and small‐for‐gestational‐age infants than the 10th percentile cutoff on the fetal growth curve.
Testicular morphological changes in children with acute lymphoblastic leukemia following chemotherapy
Authors: KOBAYASHI H. , URASHIMA M. , HOSHI Y. , UCHIYAMA H. , FUJISAWA K. , AKATSUKA J. , MAEKAWA K. , HURUSATO M.
Published: January 2011

Morphological changes in the testis induced by chemotherapy given according to the Tokyo Children's Cancer Study Group (TCCSG) regimens were studied in children with acute lymphoblastic leukemia (ALL). After informed consent, testicular biopsies were performed 14 times in 12 patients at the end of treatment. The testicular morphology in all cases had sustained a degree of damage. The tubular fertility index (TFI), calculated as the percentage of seminiferous tubules containing identifiable spermatogonia, was from 0 to 42.8% (mean 33.4%) below the normal value. Infiltration of leukemic cells was the most significant factor contributing to the decrease in TFI. There were no‐differences in the TFI among the TCCSG protocols. Formation of sperm was recognized in six cases, whose ages were 7, 8, 9, 10, 15 and 19 years. In two children, testicular biopsy was performed twice. In the second biopsy, TFI was elevated and sperm formation with the maturation of Leydig cells was observed. A number of other pathological changes were observed: modification of spermatogonia, Sertoli cells and inclusion bodies in spermatogonia, abnormal maturation of Leydig cells, evidence of interstitial fibrosis and thickening of the basement membrane. These results suggest that recent strong chemotherapy for the treatment of ALL might cause severe but not fatal damage to children's testicular tissue. As chemotherapy escalates, more investigation of testicular function will be necessary.
Listener and context dependency in the perception of emotional aspects of infant voice
Authors: SHIMURA YOKO , IMAIZUMI SATOSHI
Published: January 2011

Developmental aspects of an infant's ability to express emotions through vocalizations were studied based on perceptual rating experiments against 12 vocalization‐ and emotion‐related reference words. Three groups of listeners, students, mothers with infants, and nursery governesses, rated 28 voice samples recorded from a male infant at 6, 9, 12 and 17 months of age, under a positive or negative context. Among three factors extracted by a factor analysis, one representing the emotional contrast of frightened/angry versus happy was found to be independent of listener group, infant age and context. The other two, one representing contrast between pleased/happy versus demanding/sad and the other seeking affection and rejecting/angry were dependent on infant age and context. These results may indicate that infants even at 6 months of age can express the emotional contrast of ‘pleasure’ versus ‘discomfort’ through vocalization, which listeners perceive independently in context.
Gas chromatographic‐mass spectrometric metabolic profiling of patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome
Authors: NING CONG , KUHARA TOMIKO , INOUE YOSHITO , ZHANG CHUN‐HUA , MATSUMOTO MASAHIRO , SHINKA TOSHIHIRO , FURUMOTO TADASHI , YOKOTA KAZUKO , MATSUMOTO ISAMU
Published: January 2011

The metabolic profiles of three patients with fatal infantile mitochondrial myopathy with de Toni‐Fanconi‐Debré syndrome were studied by simultaneous analysis, after urease treatment of urinary organic acids, carbohydrates, polyols and amino acids using gas chromatography/mass spectrometry (GC/MS). All three patients persistently showed lactic aciduria, phosphaturia, glucosuria and generalized amino aciduria. This abnormal urinary metabolic profile was observed before the onset of any clinical symptoms, indicating that chemical diagnosis may be done presymptomatically. In one patient, the concentration of lactate increased in parallel with the severity of the clinical condition, whereas the urinary levels of 3‐hydroxybutyrate, amino acids and glucose fluctuated and showed only a general tendency to increase with the clinical course. The above results suggest that simultaneous GC/MS analyses, without fractionation, of urinary metabolites facilitate not only the early chemical diagnosis either before or after the first onset, but also follow‐up studies, providing an important index for the evaluation of the severity and clinical course in patients with this disorder.
Systemic air embolism in an extremely low birthweight infant treated with high‐frequency oscillatory ventilation
Authors: MARUYAMA KENICHI , KOIZUMI TAKENOBU
Published: January 2011

An extremely low birthweight infant in whom systemic air embolism occurred during high‐frequency oscillatory ventilation is reported. He was delivered at 25 weeks and 6 days gestation weighing 600 g. He was diagnosed as having respiratory distress syndrome and had intermittent mandatory ventilation. At 2 days of age, there was pulmonary hemorrhage and high‐frequency oscillatory ventilation was begun. The maximum mean airway pressure during high‐frequency oscillatory ventilation was 22 cmH2O. At 9 days of age, X‐ray film revealed air in the intracardiac cavity and major systemic vessels. Systemic air embolism can occur in an extremely low birthweight infant having high‐frequency oscillatory ventilation with a mean airway pressure of 22 cmH2O or higher.
Congenital chylothorax in a patient with 21 trisomy syndrome
Authors: YAMAMOTO TOSHIYUKI , KOEDA TATSUYA , TAMURA AKIKO , SAWADA HIROSHI , NAGATA IKUO , NAGATA NAOKI , ITO TAKASHI , MIO YASUYUKI
Published: January 2011

A female infant with 21 trisomy syndrome associated with congenital chylothorax was reported. She was born at a gestational age of 34 weeks by Cesarean section because of fetal hydrothorax and hydrops fetus, confirmed by ultrasonography at 32 weeks. Emergent resuscitation and immediate thoracentesis were performed soon after birth. After beginning breast feeding, the serous pleural fluid became opalescent and a diagnosis of congenital chylothorax was made. Feeding was changed to medium‐chain triglyceride (MCT) feeding and the production of pleural effusion disappeared after thoracentesis was performed several times. Accumulating evidence suggested that MCT feeding and intermittent thoracentesis under echo guide were effective. Some reports on patients, including this one, suggest that there may be more patients with 21 trisomy associated with congenital hydrothorax. Therefore, congenital hydrothorax might be listed as a complication of 21 trisomy.
Apparently increased trough levels of tacrolimus caused by acute infantile diarrhea in two infants with biliary atresia after liver transplantation
Authors: MATSUI AKIRA , ARAKAWA YOICHI , MOMOYA TAKAYUKI , SASAKI NOBUHIKO , KAWASAKI SEIJI , TANAKA KOICHI
Published: January 2011

Two infants with biliary atresia who exhibited three‐fold increased trough levels of tacrolimus and required reduced doses during episodes of acute infantile diarrhea within 5 months of liver transplantation are described. The cause of the increase was not explained simply by hemoconcentration as a result of significant loss of extracellular fluid during these episodes. It does highlight an important issue: that of the continuing need to carefully monitor the trough levels of tacrolimus in such infants.
A simple and rapid polymerase chain reaction‐based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients
Authors: NAGAO MASAYOSHI
Published: January 2011

A convenient molecular method for the detection of R413P (1238G←C) mutation in exon 12 of the phenylalanine hydroxylase gene, one of the prevalent mutations among Japanese patients with classical phenylketonuria (PKU) is described. The mutation was previously detected by polymerase chain reaction (PCR)‐direct sequencing or allele specific oligonucleotide hybridization. However, these methods were cumbersome and only a few laboratories could provide such a diagnostic service. An improved version of the method has been developed here, involving 30 cycles of PCR following restriction enzyme digestion. In the upstream primer encompassing G‐1207 to C‐1237, two substitutions are artificially introduced, so that a Bam‐HI site involving C‐1238 is introduced in the copies of the mutant allele. With the use of this method, R413P‐homozygote and ‐heterozygote can be readily and unequivocally distinguished from normal using genomic DNA extracted from peripheral blood leukocytes. Among 10 Japanese PKU patients investigated, three were homozygous and three were heterozygous for the R413P allele, whereas four did not carry this mutant allele, indicating that the prevalence of the mutant allele is 45%. The result suggests that it is technically feasible to develop a program for carrier detection of the mutation in the Japanese population.
Chronic urticaria associated with aseptic meningitis: An atypical urticarial vasculitis?
Authors: TANAKA HIROSHI , WAGA SHINOBU , KAKIZAKI YOSHIKI , SUGIMOTO KAZUHIKO , NOMURA KAZUO , YOKOYAMA MASARU
Published: January 2011

The patient was a 7‐year‐old girl with early onset urticarial cutaneous lesions and was later complicated with aseptic meningitis. Her skin lesions occurred in the infantile period and were diagnosed as urticaria, but did not disappear with antihistamines and were recurrent and persistent. In addition, she had experienced an episode of headache about once a month since 1991, when she was 4 years old, and was diagnosed as aseptic meningitis. All studies including skin biopsy for urticarial vasculitis (UV) and systemic lupus erythematosus (SLE) were negative except for the data from non‐specific inflammations. A systemic corticosteroid therapy dramatically reduced her symptoms. An unusual clinical course for this patient is described. It might suggest that this case is a presentation of the disease entity of UV, chronic urticaria and possibly SLE. To our knowledge, a similar case has not been previously reported.
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: The significance of gallium scintigraphy and skin biopsy in the differential diagnosis
Authors: SAKURAI YOSHIHIKO , NAKAJIMA MITSURU , KAMISUE SEIKI , NISHIMURA YAEKO , UEDA TAKU , MIYAGAWA SACHIKO , HARA TOKUKO , YOSHIOKA AKIRA
Published: January 2011

Preschool sarcoidosis occurring in children less than 6 years old is rare and characterized by the triad of skin, joint and eye manifestations without any pulmonary lesion. Because of similar clinical manifestations, the diagnosis of preschool sarcoidosis and juvenile rheumatoid arthritis (JRA) is confusing. A girl with preschool sarcoidosis, initially diagnosed and treated as having JRA, is reported here. Ophthalmologic examinations revealed posterior involvement of the eye. A gallium scintigram of the head showed panda appearance. Biopsy of the cutaneous lesion demonstrated non‐caseating granuloma. Gallium scanning may be an important clue to correct diagnosis.
Isolated intracranial metastasis of neuroblastoma 2 years after completion of therapy
Authors: LYDAKI EVAGELIA , BOLONAKI IRENE , STIAKAKI EFTICHIA , DINI GIORGIO , KALMANTI MARIA
Published: January 2011

Metastatic neuroblastoma in the brain without evidence of intracranial or extracranial disease elsewhere, is a very rare event. The pattern of spread is believed to be via the hematogenous route or cerebrospinal fluid. A child with a cystic neuroblastoma mass in the right temporal lobe 23 months following completion of therapy for the initial disease is described here. Chemotherapy with the protocol ‘eight drugs in 1 day’ was initially effective for this patient.
A case of dyshormonogenetic goiter complicated with growth hormone deficiency
Authors: KAJI MASAYUKI , TERASAKI ATSUKO , NAKATO HIDEKAZU , HATA IKUE , YOKOTA TAKASHI , FUKUMOTO MANABU , HAMASAKI SHUJI
Published: January 2011

A 17‐year‐old male patient with dyshormonogenetic goiter complicated with follicular adenoma and growth hormone deficiency is described. He had short stature (‐2.3 SD), diffuse goiter and a particularly large nodule in the right lobe of the thyroid gland. The endocrinological studies revealed slight hypothyroidism. He underwent surgical removal of the tumor, diagnosed histopathologically as follicular adenoma, embryonal type; and the diffuse goiter was diagnosed as dyshormonogenetic goiter. It was speculated that long‐term hypersecretion of thyroid stimulating hormone (TSH) caused adenoma in the thyroid gland. Although the goiter disappeared after oral thyroxine replacement therapy, his height gain remained poor. Then, he was diagnosed partial growth hormone deficiency, and growth hormone therapy improved his height gain. It has been reported that a high percentage of patients with congenital hypothyroidism have additional anomalies. This is, however, the first reported case of dyshormonogenetic goiter complicated with growth hormone deficiency.
The safety of a nitric oxide inhalation system with high frequency oscillatory ventilation
Authors: SHIBATA YOSHIHIRO , OKAMOTO KAZUFUMI , KUKITA ICHIRO , KIKUTA KOICHI , SATO TOSHIHIDE
Published: January 2011

Nitric oxide (NO) inhalation and high frequency oscillatory ventilation (HFOV) has been indicated in infants with severe respiratory failure. The purpose of the present study was to evaluate the safety of an NO inhalation system with HFOV in terms of nitrogen dioxide (NO2) production. The NO inhalation system consisted of a high frequency oscillatory ventilator, a neonatal circuit and a test lung. The NO concentration was changed from 0 to 19 p.p.m. At each level of NO, the oxygen (O2) concentration was changed from 21 to 100%. The NO and NO2 concentrations were measured with a chemiluminescence analyzer using a molybdenum converter. The NO2 concentration was increased when either the O2 or the NO concentration was increased. The interposition of the endotracheal tubes increased NO2 concentrations at 4 p.p.m. NO. The high stroke volume and high mean airway pressure produced a significant increase in NO2 production at 4 p.p.m. NO. The increase in NO2 production was prevented by placing a one‐way valve at the joint of the NO gas line to the inspired limb. It was concluded that the NO inhalation system with HFOV can be safely used when a one‐way valve is placed at the joint of the NO gas line to the inspired limb and when inhaled NO is at a relatively low concentration.
Anthracycline‐induced cardiotoxicity in children with malignancies
Authors: GODOY LILIAN YS , FUKUSHIGE JUNICHIRO , IGARASHI HISAJI , MATSUZAKI AKINOBU , UEDA KOHJI
Published: January 2011

The anthracyclines (ATC) have been used in the treatment of many pediatric patients with malignancies. Their use, however, has been limited by a serious and potentially irreversible cardiotoxicity. The medical records of pediatric patients with malignancies who received ATC at the Department of Pediatrics, Kyushu University, from January 1985 to December 1994 were reviewed. Among the 120 children with malignancies who received ATC, six patients (5%) developed congestive heart failure, 33 (28%) had subclinical cardiac dysfunction, whereas 81 (66%) showed no evidence of cardiac dysfunction. The incidence of ATC cardiotoxicity increased at higher cumulative doses. The earliest cardiotoxicity, however, was observed in a patient who received 180 mg/m2 unassociated with other risk factors, showing the marked individual variations in its development. Children younger than 4 years had a higher incidence of cardiotoxicity compared with those older than 4 years (P < 0.01) and are therefore more vulnerable to ATC cardiotoxicity. Because serial myocardial biopsies and stress testing are not practical in younger children, and radionuclide angiogram is rather costly and not appropriate for frequent evaluation, non‐invasive tests such as echocardiography and electrocardiography (ECG) still play the main role for serial cardiac monitoring in these age groups. Radionuclide angiogram should be added as the confirmatory test modality.
Bronchial hyper‐responsiveness in atopic dermatitis
Authors: MIYABAYASHI YOKO
Published: January 2011

Most patients with atopic dermatitis (AD) have symptoms of asthma at some point in their lives, but some do not have any clinical evidence of asthma. Thirty‐two patients with AD who had never suffered from bronchial asthma were investigated by the methacholine inhalation test for the presence of bronchial hyper‐responsiveness (BHR). Serum immunoglobulin E (IgE) levels, mite specific IgE antibody, peripheral eosinophil counts, serum levels of eosinophil cationic proteins (ECP), and serum levels of major basic proteins (MBP) were determined and a skin test to acetylcholine and adrenaline was performed. The percentage of cases who showed BHR (minimum dose; Dmin < 50 units) was 31.3% in AD patients and 19.0% in 21 healthy controls. In those cases, Dmin of methacholine in AD was significantly lower than that in the controls (P <0.01). Serum MBP levels were significantly higher in AD with BHR than in those without it (P < 0.05). These results indicate that some AD patients without asthma have BHR, and it may be related to serum MBP levels.
Evaluation of sponging and antipyretic medication to reduce body temperature in febrile children
Authors: AKSOYLAR SERAP , AKŞİT SADIK , ÇAǦLAYAN SUAT , YAPRAK IŞIN , BAKILER RAHMI , CETIN FUNDA
Published: January 2011

Two hundred and twenty‐four children aged 6 months to 5 years, with rectal temperatures greater than or equal to 39°C (104°F), were randomly treated with sponging alone or with medication including a single oral dose of aspirin 15 mg/kg, or paracetamol 15 mg/kg, or ibuprofen 8 mg/kg. Twenty‐three children were excluded from the final analysis because they did not complete the study. Demographic characteristics of the patients were found to be comparable in all groups. Rectal temperatures were recorded every 30 min for a 3 h period. During the first 30 min of intervention, sponging was found to be more effective than all of the three medications. After 60 min, the effects of each medication became superior to sponging with tepid water in reducing body temperature. Twenty‐three children were excluded from the final analysis because they did not complete the study. Comparing the effect of the three different medications, it was seen that the antipyretic efficacy of aspirin and ibuprofen were significantly more than paracetamol 3 h after intervention (P < 0.05). For the management of fever over 39°C, it is therefore recommended to give children an antipyretic drug, preferably ibuprofen, and at the same time to begin sponging to provide a rapid and sustained antipyresis.
Atypical Epstein‐Barr virus infection during and after intermittent FK506 therapy
Authors: AZUMA HIROSHI , SASAKI KAZUHIRO , MIYAMOTO KAZUTOSHI , TANAKA KOUICHI , KATO HIRONORI , UEMOTO SHINJI , OKUNO AKIMASA
Published: January 2011

Atypical Epstein‐Barr virus (EBV) infection developed in a patient under intermittent administration of FK506 (one dose in 10 days) after living‐related liver transplantation. The clinical course was similar to severe chronic active EBV infection syndrome (SCAEBV), which is characterized by extremely high titers of antibody to EBV antigens. The clinical symptoms improved without graft rejection even after the cessation of FK506; however, the titers of antibody to EBV antigens remained at high levels. It was considered that: (i) even intermittent use of FK506 could influence the immune response, which then induced atypical EBV infection similar to SCAEBV; and (ii) the impaired immune response, especially to EBV antigens, remained after complete cessation of FK506.
Mixed connective tissue disease in childhood: A nationwide retrospective study in Japan
Authors: YOKOTA SHUMPEI , IMAGAWA TOMOYUKI , KATAKURA SIGEKI , ITOH SHUH‐ICHI , MITSUDA TOSHIHIRO , FUJIKAWA SATOSHI , AIHARA YUHKO
Published: January 2011

Sixty‐six children with mixed connective tissue disease (MCTD) were analyzed by a nationwide prospective study. The diagnostic significance of Raynaud's phenomenon and positive anti‐RNP antibody was confirmed, and additional symtoms including swelling of fingers, facial erythema, and polyarthralgia, and laboratory findings such as positive rheumatoid factor, hypergammaglobulinemia, and increased levels of myogenic enzymes, were variably positive. These clinical and laboratory characteristics of MCTD were critically different from those of systemic lupus erythematosus, indicating that MCTD is an independent entity of disease.
Aortitis syndrome in children: Clinical observation of 35 cases in Japan
Authors: MAEDA MOTOHARU , KOBAYASHI MUNEMITSU , OKAMOTO SHIZUKA , FUSE TOMOKO , MATSUYAMA TSUYOSHI , WATANABE NOBUO , FUJIKAWA SATOSHI
Published: January 2011

The results of clinical observation of 35 patients with aortitis syndrome (AS) in childhood, obtained by a nationwide survey in Japan, are reported. The male to female ratio was 1:2.5, the estimated age of onset averaged 10.2 years, and the duration from the estimated age of onset to the diagnosis averaged 15 months. In HLA examination A24, Bw52, Cw7 and DR2 were relatively common. Arterial lesions tended to extensively involve the aortic arch and its branches. Fever was the most frequently noted clinical symptom, followed by abdomen, joint and muscle pain. The physical findings in order of frequency were impaired circulation of the upper extremities, cardiac and vascular murmurs, hypertension, impaired cerebral circulation, visual disorder and impaired circulation of the pulmonary artery. The murmurs were found not only over the chest wall but also over the cervical area and abdomen. Pulselessness of the upper extremities occurred in 66% of patients. Percutaneous retrograde aortography and/or intravenous digital subtraction angiography to make the final diagnosis was employed except for three cases. There were not any specific abnormal signs in laboratory data. Steroid hormones were administered in 34 cases, and immunosuppressive agents in 8 cases. Five cases had percutaneous transluminal angioplasty to the right renal artery as an interventional treatment. The high frequency of abdominal pain is considered to be one of the characteristics of AS in childhood. The high frequency of pulselessness of the upper extremities and cardiac and vascular murmurs in this report is considered significant for the diagnosis of AS in childhood.