bluuebunny/crossref_metadata_2025 huggingface dataset:
Pre‐operative time course changes in liver function tests in biliary atresia: Its usefulness in the discrimination of biliary atresia in early infancy
Authors: YAMAGIWA IWAO , IWAFUCHI MAKOTO , OBATA KAZUYA , SAITO HIROYUKI
Published: January 2011

In order to investigate the possibility of early discrimination of extrahepatic biliary atresia from other cholestatic diseases, a series of results of liver function tests in infants with cholestatic diseases were reviewed. The results of routine liver function tests (LFT) recorded in patients' charts were reviewed within 12 weeks after birth in 47 infants with extrahepatic biliary atresia (BA), 10 infants with neonatal hepatitis (NH) and 130 age‐matched control infants (CO) without cholestatic diseases. The mean of each test value for each week after birth was derived from the actual data examined in each infant. No differences were observed between BA and CO in the levels of aminotransferases within 2 weeks after birth. Total bilirubin and direct bilirubin levels were significantly different between BA and CO within 1 week after birth (16.1 ± 3.2 mg/dL vs 11.1 ± 4.5 mg/dL, 4.6 ± 2.6 mg/dL vs 0.7 ± 0.3 mg/dL, respectively) The direct bilirubin‐total bilirubin ratio exceeded 25% within the first week in BA. The individual values of direct bilirubin (DB) exceeded 2 mg/dL within the first week in all infants with BA, while none of the individual values exceeded 1.6 mg/dL in CO. Gamma‐glutamyl transpeptidase levels were significantly different between BA and CO at 4 weeks (432 ± 272 IU/L vs 79 ± 43 IU/L) and thereafter; and were significantly different between BA and NH at 6 weeks (314 ± 232 IU/l vs 69 ± 58 IU/L) and thereafter. These data suggest that the determination of direct bilirubin within 1 week after birth can detect extrahepatic biliary atresia patients from those with physiologic jaundice, and γ‐glutamyl transpeptidase levels may discriminate BA from NH at no later than 6 weeks of age.
Sjögren's syndrome with membranous glomerulonephritis detected by urine screening of schoolchildren
Authors: YOSHIDA KAZUO , SUZUKI JUNZO , KUME KAZUNARI , SUZUKI SHIGEO , ISOME MASATO , KATO KAZUO , SUZUKI HITOSHI
Published: January 2011

A case of Sjögren's syndrome with glomerulonephritis is presented. The patient was a 13 year old male with hematuria and proteinuria discovered by urine screening of school children. Evaluation showed no evidence of any associated connective tissue disease. Kidney biopsy was consistent with membranous glomerulonephritis. Sjögren's syndrome with membranous glomerulonephritis is rare and the patient was the youngest case in the literature.
Coffin‐Siris syndrome: A case of an extremely low birthweight infant with severe kyphoscoliosis
Authors: SUZUMURA HIROSHI , SAKURAI KENJI , KANO KENICHI , ICHIMURA TOHJU
Published: January 2011

A case of Coffin‐Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin‐Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin‐Siris syndrome.

Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin‐Siris syndrome in previous reports and in the present case.
The first case of type B infant botulism in Japan
Authors: KAKINUMA HIROAKI , MARUYAMA HIROMI , TAKAHASHI HIROAKI , YAMAKAWA KIYOTAKA , NAKAMURA SHINICHI
Published: January 2011

A six‐month‐old girl with a 5 consecutive day history of constipation and poor feeding developed generalized weakness, poor head control, difficulties in sucking and swallowing, and cranial nerve dysfunction within a few days. These characteristic manifestations and clinical course prompted examination of the possibility of infant botulism, although no history of eating honey was obtained. Mouse bioassay performed with enema effluent demonstrated type B botulinum toxin. Culture of the effluent was positive for Clostridium botulinum type B. This is the first case of type B infant botulism in Japan.
Growth hormone neurosecretory dysfunction associated with ring chromosome 18
Authors: ARITAKI SEKOIYA , TAKAGI AKIRA , SOMEYA HAYASHI , JUN LI
Published: January 2011

The patient was a girl 5 years and 1 month old of markedly short stature (–3.9 SD) for her chronological age. Although her karyotype was 46, XX, r(18)(p11q23), there were no symptoms of a chromosomal deletion. Other authors have described cases with a ring autosome showing a phenotype with short stature alone as ‘ring syndrome’, regardless of which autosome is involved. The present case seems to fall into this category. Although blood growth hormone (GH) showed normal responses to four types of provocative tests, the mean value of blood GH levels obtained at 30 min intervals for 24 h was low, indicating the existence of growth hormone neurosecretory dysfunction (GHND)
Hospital facilities available to patients with Kawasaki disease: Results of a national survey of Kawasaki disease in Japan
Authors: KOYANAGI HIDEKI , NAKAMURA YOSIKAZU , YASHIRO MAYUMI , YANAGAWA HIROSHI
Published: January 2011

Since 1970, thirteen nationwide epidemiologic surveys of Kawasaki disease have been conducted, and questions on the current situation of hospitals and their facilities have been included in the survey form to assess the care available to patients with Kawasaki disease. To clarify the characteristics of medical care for Kawasaki disease, this paper summarizes the present condition of hospital facilities available to patients with Kawasaki disease. A questionnaire form including questions about the situation of hospital facilities was sent to all pediatric departments of hospitals with 100 or more beds throughout Japan. The proportion of hospitals in which successive observations with echocardiography (UCG) is available (UCG available hospital) was significantly increased compared with the ninth survey (1985–86), whereas that of the hospitals in which coronary angiography (CAG) is available (CAG available hospital) was significantly decreased. Almost all (96.2%) of the patients were reported from the UCG available hospitals. The proportion of patients reported from hospitals with a set policy for intravenous gamma globulin (IVGG) therapy was 74.5%. The proportion of UCG available and CAG available hospitals and that of hospitals with a set policy for IVGG therapy correlated with the increase in the number of patients. In conclusion, hospital facilities available to patients with Kawasaki disease in Japan have satisfactory capability for diagnosis and management of Kawasaki disease.
Renal functional measurements in young rats with chronic inhibition of nitric oxide synthase
Authors: TSUKAHARA HIROKAZU , IMURA TOSHIO , TSUCHIDA SHINYA , NUNOSE MITSUKO , HORI CHIKAHIDE , HIRAOKA MASAHIRO , GEJYO FUMITAKE , SUDO MASAKATSU
Published: January 2011

The purpose of the present study was to examine renal functional changes caused by chronic blockade of nitric oxide (NO) synthesis in young rats. Two types of NO synthase inhibitor were used: NG‐nitro‐L‐arginine methyl ester (L‐NAME) as a non‐selective inhibitor and aminoguanidine (AG) as a selective inhibitor of the inducible isoform. Oral administration of L‐NAME (20–80 mg/dL of drinking water), not AG (400 mg/dL), for 4 weeks induced systemic hypertension in the treated rats. Both inhibitors caused a significant reduction in urinary excretion of NO2−/NO3−. Rats treated with L‐NAME developed proteinuria and tubular enzymuria (high excretion of N‐acetyl‐β‐D‐glucosaminidase) in a dose‐dependent fashion, with normal serum levels of creatinine, albumin and cholesterol. Chronic AG administration did not alter the urinary levels of protein and N‐acetyl‐β‐D‐glucosaminidase or serum laboratory values. Overall, these observations highlight the importance of the continuous generation of NO by the constitutive isoform in the control of vascular tone and the maintenance of renal glomerular and tubular function. Oral administration of L‐NAME may serve as a model of chronic NO‐deficient hypertension with renal injury in young rats.
The usefulness of measuring body fat deposition for detecting obesity and atherogenesity in Japanese school children
Authors: TAKAHASHI HIDEO , HASHIMOTO NAOSHI , KAWASAKI TAKUYA , KIKUCHI TORU , UCHIYAMA MAKOTO
Published: January 2011

Body fat deposition was measured in overweight and non‐overweight children using a bioelectrical impedance method, and its relationship with serum lipids and apolipoproteins was investigated in 90 overweight children (over 120% of their ideal weight) and 241 non‐overweight children aged 10–15 years in Niigata Prefecture. The results were as follows. Overweight boys had significantly higher levels of total cholesterol (TC), low‐density lipoprotein cholesterol (LDL‐C), atherogenic index (AI), RLP‐cholesterol (RLP‐C), apoA1, apoA2, apoB, apoC2, apoC3, apoE and the ratio of apoB to apoAl than non‐overweight boys. Overweight girls had significantly higher levels of TC, LDL‐C, AI, remnant‐like lopoprotein cholesterol (RLP‐C), apoA2, apoB, apoC2, apoC3, apoE and the ratio of apoB to apoA1 than non‐overweight girls. It has been reported that of all children studied 2.1% had higher levels of RLP‐C than its upper limit known for adults (12 mg/dL). Of the overweight children in the present study, 4.4% had a high level of RLP‐C whereas only 1.2% of non‐overweight children had a high RLP‐C level. No difference in the lipoprotein levels was found between overweight and non‐overweight children. In both boys and girls, relative weight, body fat, skinfold thickness and body mass index (BMI) were correlated with the lipoprotein levels. Non‐overweight boys whose body fat was over 20% had significantly higher levels of TC, LDL‐C, apoA2, apoB, apoC2, apoE and apoB/A1 than those whose body fat was less than 20%. It was concluded that the measurement of body fat deposition, together with relative weight, was useful for detecting obesity and atherogenesity in Japanese school children.
Epidemiology of poliomyelitis in Karachi, Pakistan: Prospective studies during 1990–93
Authors: ISOMURA SHIN , MUBINA AGBOATWALLA , DURE‐SAMIN AKRAM , ISIHARA YUICHI , SAKAE KENJI , YAMASHITA TERUO , NISHIO OSAMU , AHMED AKHTAR
Published: January 2011

Between October 1989 and September 1993, 245 cases of poliomyelitis visited the Department of Pediatrics, Civil Hospital Karachi, Pakistan. The majority of them were between 6 months and 2 years of age and the epidemic occurred during the hot season. The dominant serotype was polio type 1. All of the polioviruses isolated from the patients were wild type. Virological studies also disclosed that enteroviruses other than polioviruses were prevalent among healthy children as well as diarrheal and polio patients. Serodiagnosis by poliovirus‐specific immunoglobulin M antibody tests using the capture enzyme‐linked immunosorbent assay method were in good agreement with the results of virus isolation. The present study demonstrated that Pakistan is a region endemic for wild poliovirus and more aggressive preventive measures are needed to eradicate poliomyelitis from the region.
Chronic respiratory failure after acquired cytomegalovirus infection in a very low birthweight infant
Authors: SUZUMURA HIROSHI , SAKURAI KENJI , KANO KENICHI , ICHIMURA TOHJU
Published: January 2011

The case of a female infant who developed chronic respiratory failure after an acquired cytomegalovirus (CMV) infection is presented here. She was a very low birthweight (VLBW) infant and was free from oxygen supplement until 2 months after birth. Interstitial pneumonia occurred at 2 months of age, and her respiratory condition gradually deteriorated. A chest roentgenogram at 4 months revealed hyperinflation and reticular shadow, similar to that of severe chronic lung disease (CLD) in preterm infants. She was mechanically ventilated because of progressive respiratory deterioration, and oxygen dependency continued for 5 months after extubation. There are several previous reports of CMV pneumonia in term neonates or infants. However, there appears to be no published report on the pulmonary sequelae of CMV pneumonia in VLBW infants. The present case seems to indicate that acquired CMV pneumonia in VLBW infants causes chronic respiratory failure even when mechanical ventilation is not administered, and this respiratory failure is very similar to CLD in clinical symptoms and chest roentgenogram.
Treatment of atopic dermatitis in children: The importance of skin care and environmental control
Authors: GANIR ESTELA M. , CAPULONG MARIA CHONA T. , TAHARA KIYOSHI , AKASAWA AKIRA , IIKURA YOJI
Published: January 2011

A 5‐year‐old female with severe atopic dermatitis with secondary bacterial infection is presented. The patient had been managed with topical steroids and anti‐allergic drugs for several months prior to admission to the National Children's Hospital, Tokyo. This case is reported to emphasize that drugs alone are not sufficient in treating severe atopic dermatitis. Skin care and environmental control are equally important and should form a part in the management of the disease.
Prospective study of nesidioblastosis in newborns and infants: Hypoglycemic seizures, epileptogenesis and the significance of the C‐peptide suppression test in pancreatectomy
Authors: IZUMI TATSURO , TAKESHIGE HIROKO , ARAI TOSHIHIKO , SUGAMA MICHIKO , MIZUSHIMA MIKA , FUKUYAMA YUKIO , MABUCHI GENGO
Published: January 2011

The long‐term follow‐up of chronic hyperinsulinemic seizures, epileptogenesis and other neurological complications in five patients who were treated with conservative therapy followed by pancreatectomy during the neonatal period and infancy, who were confirmed to have diffuse nesidioblastosis are described. The reaction pattern of the C‐peptide (CPR) suppression test and its relation to the final extent of pancreatectomy was examined in four patients. The chronological change in electro‐encephalography (EEG) and its epileptogenesis was also examined in each patient during hyperinsulinemic hypoglycemia, and during normoglycemia in a long‐term post‐pancreatectomy follow‐up. All patients demonstrated several types of hypoglycemic seizures, ranging from apnea, erratic seizures, partial seizures evolving to generalized/unilateral tonic‐clonic or tonic seizures, myoclonic seizures and EEG abnormalities. Four of five patients still suffered from epilepsy at the age of 4–22 years. The reaction pattern of the CPR suppression test showed dichotomy, with a hyper‐reactive pattern in two patients who required total pancreatectomy to control hypoglycemia, and a suppression pattern in two other patients treated with 90–95% pancreatectomy.

Neonatal onset and subsequent myoclonic seizures were ominous signs of epileptogenesis to various types of intractable epilepsy and other neurological sequelae. A prompt diagnosis and pancreatectomy of a sufficient extent at the first operation are essential. The CPR suppression test may be useful for a prompt diagnosis and selection of the extent of pancreatectomy.
Rapid decrease of urinary pyridinoline excretion in growth hormone deficient children following discontinuation of growth hormone therapy
Authors: KUNO TATEO , TASAKI HAKARU , MIYAZAKI SUMIO , HORIE HITOSHI
Published: January 2011

In order to examine the effect of growth hormone on urinary pyridinoline excretion, 32 patients with complete or partial growth hormone deficiency had their urinary pyridinoline excretion measured while receiving growth hormone and for 14 days after it was discontinued. There was a significant positive correlation between increases in growth velocities during the first year of growth hormone administration compared to before it, and the ratio of the urinary pyridinoline excretion levels while receiving growth hormone to those after discontinuation. Therefore, urinary pyridinoline excretion rapidly decreased in patients with growth hormone deficiency when the administration of growth hormone was stopped. Exogenous growth hormone appears to stimulate bone resorption in these patients.
Effect of weight loss on body fat distribution in obese children
Authors: TORIGOE KATSUMI , NUMATA OSAMU , MATSUNAGA MASAMITI , TANAKA YASUKI , IMAI CHIHAYA , YAMAZAKI HAJIME
Published: January 2011

The intra‐abdominal visceral fat to subcutaneous fat ratio (V/S ratio) has been reported to be strongly related to disorders of glucose and lipid metabolism, and hypertension. It is a matter of concern as to whether weight loss causes an improvement of the V/S ratio or not in obese children. Changes in body fat distribution during weight loss in 23 obese children were quantified by weight, bioelectrical impedance analysis (BIA) and computed tomography (CT scan of the abdomen). Twenty‐three patients were divided into two groups; six were in the inpatient group and 17 were in the outpatient group. Bodyweight, body fat percentage, subcutaneous fat and visceral fat were significantly higher in the inpatient group than in the outpatient group before weight loss. Whereas the V/S ratio was almost equal between the two groups before weight loss. Bodyweight, body fat percentage, subcutaneous fat and visceral fat were found to decrease significantly during weight loss in the two groups. The V/S ratio of the outpatient group did not change after weight loss. In contrast, the V/S ratio of the inpatient group decreased significantly during weight loss. These preliminary findings suggest that a large amount of body fat and a high obesity rate are not always accompanied by a high V/S ratio in obese children. The fat pattern changes during weight loss with strict dietary therapy and therapeutic exercise. A larger sample of obese children should be studied to test this conjecture.
Autoregressive analysis of cardiac RR intervals in preterm and full‐term infants
Authors: NYU AYA , OGAWA TERUYUKI
Published: January 2011

For the purpose of obtaining information on the maturation process of the autonomic nervous system in pre‐ and full‐term infants, polygraphs were recorded during sleep from a total of 52 appropriate‐for‐dates infants at a conceptional age of 28–41 weeks. The 104 RR interval time series was calculated by auto‐regressive (AR) and component analysis. Histograms of damping frequencies obtained were divided into two frequency bands: low frequency fluctuations (LF) of less the 0.1 cycle/beat (c/b) and high frequency fluctuations (HF) of more than 0.15 c/b. Total power and LF power decreased with increases in the conceptional age or postnatal age at a significance level of 0.01, respectively. In addition, the HF amount of bio‐informing activity increased (P< 0.001) and the damping time of HF also increased (P <0.01). From these results, it was speculated that the activity of the sympathetic system decreases with increases in conceptional or postnatal age. It was also speculated that increased regularity and oscillatory duration in HF might be caused by the development of the reciprocal response of respiration to heart rate variation.
High‐dose chemotherapy and autologous blood stem cell transplantation in children with metastatic neuroblastoma
Authors: KAI TAKESHI , ISHII EIICHI , MATSUZAKI AKINOBU , INABA SHOICHI , SUITA SACHIYO , UEDA KOHJI
Published: January 2011

High‐dose chemotherapy (HDC) followed by autologous blood stem cell transplantation (ABSCT) was performed to improve the prognosis of children with metastatic neuroblastoma over 1 year of age at diagnosis. Seven stage IV neuroblastoma patients with a median age of 3.9 years (range 1.6–11.4 years) received conventional chemotherapy before leukapheresis for ABSCT. The median duration of chemotherapy before harvest was 8 months (range 3–23 months). Peripheral blood stem cells (PBSC) were harvested from them after the use of cytotoxic drugs plus granulocyte colony‐stimulating factor. The median number of granulocyte‐macrophage colony forming units collected after harvest was 23.2 × 104/kg (range 10.1–45.3 × 104/kg). The patients were administered HDC consisting of carboplatin, etoposide, and melphalan followed by ABSCT. Hematopoietic reconstitution after ABSCT was favorable; recovery of granulocytes count > 0.5 × 109/L occurred within 2 weeks and stable platelet engraftment occurred at a median duration of 23 days (range 7–33 days). The toxicity of ABSCT was well tolerable. Two of the four patients who received ABSCT at their first complete remission remained in remission 67 and 68 months after ABSCT. One with partial remission also showed a good response for 8 months. The other two at first relapse showed a transient regression of the tumor. The prognosis of seven patients who received ABSCT was significantly better than that of 13 patients who received conventional therapy alone. These findings suggest that HDC followed by ABSCT is safe and useful as consolidation therapy for the treatment of patients with metastatic neuroblastoma.
Pneumomediastinum in newborns induced by the Elder CPR/demand valve during resuscitation
Authors: MATSUBARA KOUSAKU , NIGAMI HIROYUKI , HARIGAYA HIDEKAZU , BABA KUNIZOU
Published: January 2011

Two term and one post‐term newborn infants with pneumomediastinum associated with the use of an Elder CPR (cardiopulmonary resuscitation)/demand valve during resuscitation are described. Because of apnea or irregular gasping respiration after vaginal delivery, they received repetitive positive‐pressure ventilation with this resuscitator, which is designed to provide 100% oxygen with a limited pressure of up to 40 cmH2O. Following resuscitation, the infants had tachypnea and diminished breath sounds. Roentgenograms and computed tomography of the chest revealed pneumomediastinum in all three and cervical subcutaneous emphysema in one. They required 25–30% oxygen for 3–14 days until they recovered spontaneously. Thus, pressures as low as 40 cmH2O can cause barotrauma, and the Elder resuscitator, even when functioning properly, may injure the lungs of newborn infants.
Trends in development of anti‐infective agents in Japan
Authors: YAGISAWA MORIMASA , SUNAKAWA KEISUKE
Published: January 2011

Newly developed anti‐infective agents have been continuously supplied in the clinics of Japan over the past 50 years, and were beneficial in saving patients from life‐threatening infections. However, the emergence of resistant bacteria and uncommon pathogens has caused complications in chemotherapy. Further efforts have been made to develop newer and more effective agents to minimize such complications. The newest and the most effective agents are available even at primary‐care clinics, as the health insurance system allows the use of any agents approved by the government. Despite potential risks of the emergence and spread of resistant bacteria and the occurrence of adverse drug reactions, current usage of such effective agents shows more successful results, particularly in prognosis, than that of less effective ones. Because of the extreme changes in infectious diseases over the last 10–15 years, guidelines for the evaluation of anti‐infective agents have been proposed. It is essential to harmonize with the USA and the European guidelines for mutual acceptance of clinical data. However, it is true that practices of anti‐infective therapy in Japan, in the USA and in Europe are different both in dose regimen and assessments of efficacy and safety. As the leading country in the development of newer anti‐infective agents, Japan proposes the most sophisticated way to evaluate those agents to update knowledge in medical science.
Pharmacokinetics of antibiotics in neonates
Authors: SATO YOSHITAKE
Published: January 2011

The pharmacodynamics in neonates are different from those in adults and children because the absorption, distribution, metabolism and excretion of drugs in neonates are always changing for the following reasons. In neonates, the proportion of extracellular fluid is large; the amount of plasma protein is small; renal function is immature; and the hepatic enzyme system is immature. In addition, individual birthweights, gestational ages in weeks, cardiopulmonary functions and renal excretory functions vary. All of these factors should be considered when selecting the dose and administration method of a drug. In concrete terms the distribution volume is large, which causes a low maximum concentration. In addition neonate renal excretory function is low and the hepatic enzyme system is immature, thus the half‐life of drugs is prolonged. Therefore, the same dose per unit time as that for children (including infants) needs to be administered to neonates at dosing intervals that may be prolonged according to renal function.
Epstein‐Barr virus infection, Hodgkin's disease, non‐Hodgkin's lymphoma, and reactive follicular hyperplasia in Japanese children: Evaluation of paraffin‐embedded specimens using polymerase chain reaction and immunohistochemistry
Authors: HIRAIWA HISAYUKI , HAMAZAKI MINORU , MURATA HIROAKI , TANIGUCHI KIYOSU , SAKURAI MINORU
Published: January 2011

Epstein‐Barr virus (EBV) infections are common in Japanese children, with infections by EBV type 1. The relationships between EBV infection and lymphadenopathies in Hodgkin's disease (HD), non‐Hodgkin's lymphomas (NHL), reactive follicular hyperplasia (RFH), and infectious mononucleosis (IM) in 37 Japanese children were evaluated. Formalin‐fixed, paraffin‐embedded lymph node specimens that were obtained at surgical resection or biopsy were evaluated for the presence of EBV DNA and the latent membrane protein‐1 (LMP‐1) using polymerase chain reaction (PCR) and immunohistochemical staining. The PCR detected EBV DNA in nine of 13 (69.2%) patients with RFH, including a case of IM, all three (100%) patients with HD, and one of 21 (4.8%) patients with NHL. All EBV‐positive samples contained EBV type 1. Reed‐Sternberg's cells in HD were immunohistochemically positive for LMP‐1, whereas all cases of RFH and NHL were negative for LMP‐1. Results suggest that EBV infection may be related to HD. Although no proof exists that EBV infection contributes to the transformation of cells, thus causing RFH or NHL, the present authors suggest that the EBV‐positive cases in Japanese children demonstrate a relationship between the clinical and histopathological features of the lymphadenopathy and EBV‐type 1 infection.
Infectious mononucleosis as a disease of early childhood in Japan caused by primary Epstein‐Barr virus infection
Authors: KANEGANE HIROKAZU , KANEGANE CHIHARU , YACHIE AKIHIRO , MIYAWAKI TOSHIO , TOSATO GIOVANNA
Published: January 2011

The present study investigated 54 pediatric patients with acute Epstein‐Barr virus (EBV)‐induced infectious mononucleosis (IM) in Japan. Most of the acute cases clustered within the first 5 years of life, and the peak incidence was observed at around 4 years of age. These patients were arbitrarily separated into three age groups (less than 3 years, 3–5 years, and 6–14 years). Fever, pharyngitis, lymphadenopathy and hepatomegaly were detected in more than 80% of all cases. Tonsillitis and splenomegaly were present in about 60% of cases. Skin manifestations and eyelids edema were less often detected in the older age group than in the younger age groups. In addition to an increase of total white blood cell and lymphocyte counts in the peripheral blood, a significant increase in the percentage of CD3+ CD8+ HLA‐DR+ T cells was always observed. Epstein‐Barr virus seropositivity increased soon after birth and reached approximately 70% around 3 years of age. Close to 100% of the adult controls were EBV seropositive. The results suggest that EBV‐induced acute IM is a disease of early childhood in Japan.
Childhood leukemia: Epidemiological investigation and effectiveness of treatment in Nagasaki over the past 12 years
Authors: KUSUYAMA MISAKO , MATSUMOTO KAZUHIRO , MATSUMOTO TADASHI , TSUJI YOSHIRO
Published: January 2011

An epidemiological investigation of childhood leukemia was performed in Nagasaki Prefecture. The objective of this investigation was to analyze the disease as a whole by studying (i) the incidence classified by year, sex, area and disease type, (ii) age of onset, (iii) effectiveness of treatment, (iv) prognosis, and (v) possible association with the atomic bombing in 1945. The annual incidence was 3.0 per 100 000 children under 15 years of age, lower than the national average. There was no significant change in the annual incidence for 12 years. No increase in incidence was observed in Nagasaki City and its surrounding areas. There was no obvious difference in age of onset and incidence by sex from those previously reported. Acute lymphocytic leukemia accounted for a large part of childhood leukemia. There was no increase in the incidence of acute non‐lymphocytic leukemia, but its familial occurrence and accumulation were observed. The rate of first complete remission and the number of long‐term survivors increased with the improvement of treatment for acute leukemia. The influence of the atomic bomb was not clear when the incidence of disease types was compared between areas. The comparison of the disease type ratio in patients of the second and third generations of atomic bomb victims with that of patients without a family history of atomic bomb exposure also did not show an obvious influence of the bomb.
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies
Authors: SAIJO HARUMI , TANAKA HAJIME , ITO JUNICHI , TASAKI TAKUMI , CHO KAZUHIKO , TOKUMITSU AYA , TAKAHASHI SATORU , MIYAMOTO AKIE , OKI JUNICHI
Published: January 2011

Pyruvate dehydrogenase complex (PDHC) deficiency is known to cause congenital lactic acidosis. The case of a 9‐month‐old female infant with PDHC deficiency caused by a mutation in exon 11 of the pyruvate dehydrogenase (PDH) Elα gene is described. Her facial features were as follows: frontal bossing, upslanting palpebral fissures, a short upturned nose, a long philtrum and low set ears. These anomalies are characteristic not only of a malformation syndrome or chromosomal aberration, but also of PDHC deficiency. Because PDHC deficiency requires early treatment, metabolic disorders should be kept in mind in a patient with dysmorphic features. Further, she had multiple minor anomalies including bilateral inguinal herniae, an umbilical hernia and small hands and feet, which have not been described in previous reports.
Acute fulminant ulcerative colitis with toxic megacolon
Authors: IGARASHI CHIHARU , HORI TSUKASA , YOSHIDA MASAKI , YOKOZAWA MASATO , FUJITA SHIGERU , YONEZAWA KAZUHIKO , TOSAKA MATSUMI , YOSHIDA YUTAKA
Published: January 2011

An 11‐year‐old boy with acute fulminant ulcerative colitis (UC) is presented. He had systemic deterioration with frequent diarrhea and lethargy. Acute fulminant UC associated with toxic megacolon was diagnosed by rectal endoscopy and biopsied specimen. He was treated with intensive intravenous administration of prednisolone and total parenteral nutrition. He recovered completely without any surgical intervention.
Systemic sclerosis in children: A national retrospective survey in Japan
Authors: FUJITA YUKIHIKO , YAMAMORI HIROYUKI , HIYOSHI KAZUO , INAMO YASUJI , HARADA KENSUKE , FUJIKAWA SATOSHI
Published: January 2011

A retrospective questionnaire survey of pediatric departments, for childhood collagen disease from 1985 to 1994 was used to clarify the clinical features of scleroderma in Japan. In the primary survey, 0.9% of the children with a rheumatic condition had scleroderma. Answers to this questionnaire were received on 18 (localized 9; systemic 9) patients from 15 institutions. In order to examine systemic sclerosis (SSc), seven cases of SSc in Japanese articles during the same period as the questionnaire were added to these answers and compared to the Japanese epidemic study investigated by Fukuyama in 1974. There were 16 children, seven boys and nine girls, with SSc during the 10‐year period in Japan. The mean age of onset of symptoms was 8.0 ± 2.8 years and the age at diagnosis was 10.1 ± 3.0 years. Eighty percent of children had Raynaud's phenomenon at the onset of SSc, and skin and musculoskeletal involvement was highly recognized during the course of the disease. Atrophy of the frenulum linguae and lung fibrosis were commonly seen in SSc. In serological studies, 80% of children have antinuclear antibodies and approximately 50% of patients have anti‐Scl‐70 (topoisomelase I) antibodies at the onset and during the course of childhood SSc. The prognosis is poor, as remission occurred in only one child. The clinical symptoms and examination of serological autoimmune antibodies were supportive of an early diagnosis of SSc. When compared to the previous national survey of children with SSc, the present results showed that the male‐to‐female ratio was reduced, the age at onset was low, the positive incidence of serological autoimmune antibodies elevated, and the usage of vasodilators and nonsteroid anti‐inflammatory drugs (NSAID) increased, with corticosteroids decreased. But, the positive percentage of clinical symptoms were not changed in both studies. For a complete retrospective nationwide epidemic survey carried out on children with scleroderma, especially SSc, it is important to include dermatology departments.
The clinical features of Sjögren's syndrome in Japanese children
Authors: TOMIITA MINAKO , SAITO KIMIYUKI , KOHNO YOICHI , SHIMOJO NAOKI , FUJIKAWA SATOSHI , NIIMI HIROO
Published: January 2011

Sjögren's syndrome (SS) is thought to be uncommon in children. An epidemiological study to describe the clinical features distinguishing SS in Japanese children was performed by sending questionnaires to hospitals. A total of 61 cases of SS were reported from 1290 hospitals. The diagnosis of SS was based on histopathological changes and/or sialographic changes in the salivary glands. Forty‐two cases had primary SS and 19 were secondary SS with other autoimmune disorders. Fourteen cases (65%) of secondary SS were associated with systemic lupus erythematosus. In primary SS, the initial symptoms were systemic manifestations (fever, exanthema, arthralgia, etc) except for sicca symptoms. In laboratory studies, antinuclear antibodies, elevated serum IgG, rheumatoid factor, anti‐Ro/SS‐A antibodies and anti‐La/SS‐B antibodies were frequently observed.
Serum free carnitine levels in children with recurrent pulmonary infections
Authors: ERGüR AYÇA TöREL , TANZER FATOŞ , ÇETINKAYA öGE
Published: January 2011

The serum free carnitine levels of 33 children with recurrent pulmonary infection and 30 healthy children were measured and found to be 26.12 ± 0.98 nmol/mL and that of the control group 38.98 ± 0.79 nmol/mL on the average. The mean free carnitine level was statistically determined to be significantly lower when compared with that of the control group (P < 0.01). The results indicate that oral L‐carnitine therapy is recommended for pediatric patients with recurrent pulmonary infection.
Incidence of hypocomplementemia in elementary and junior high school children with urinary abnormalities
Authors: MURAKAMI MUTSUMI , TATSUMA NORIKO , TSUGU HITOSHI , AMBO KAZUTOSHI , TSUCHIYA MASAMI , YAMAMOTO MASAO , YAMAUCHI KUNIAKI
Published: January 2011

Abnormalities were detected in 2669 of 326 257 elementary and junior high school children (169 856 males and 156 401 females) who were screened at school for urinary abnormalities. Serum complement (C3) level was measured in all 2669 children having urinary abnormalities (811 males, 1856 females). Three had a serum C3 level that was more than three standard deviations below the mean value. Type I membranoproliferative glomerulonephritis (MPGN) was diagnosed on histological examination in one of these three children, while the other two did not undergo renal biopsy because they had serum C3 levels of 40 and 44 mg/dL, respectively, and because their urinary abnormalities were transient. It was considered that there is not much significance in testing the serum complement in the urine screening done at school and the cost/benefit ratio is low. The results appeared to reflect the frequency of persistent hypocomplementemic MPGN in Japan in recent years.
Does vancomycine increase aminoglycoside nephrotoxicity?
Authors: ERGüR AYÇA TöREL , ONARLIOGLU BILGE , GüNAY YASEMIN , ÇETINKAYA öGE , BULUT HüSEYIN ERAY
Published: January 2011

Vancomycine and amikacin combined is an effective antibiotic combination used in the treatment of serious Gram‐positive bacteremia in childhood. However, both drugs may have a potential nephrotoxic effect when used individually. The present study investigates whether the nephrotoxicity of these drugs that display a nephrotoxic effect when used separately increases when used in a combined manner. Ten 2‐month‐old rats were subjected to intraperitoneal injections of vancomycine (100 mg/kg) and amikacin (80 mg/kg) and ten other 2‐month‐old rats were administered amikacin (80 mg/kg) for a period of 15 days. The control group of animals consisting of five 2‐month old rats were untreated. The renal tissues obtained by laparotomy were processed for both light and electron microscopy. Paraffin sections and ultrathin sections were evaluated in order to determine the renal structure of the control and the experimental groups. In addition, serum creatinine and blood, urea and nitrogen (BUN) levels were measured in blood samples obtained from the rats. In the amikacin and combined amikacin‐vancomycine treatment groups, renal morphological changes were observed at the glomerular and tubular levels when compared to the control group, and the serum creatinine and BUN levels were also higher in these groups. Although both experimental groups were different from the control group, they had similar morphological and biochemical features. It was concluded that vancomycine did not influence the nephrotoxic effect of amikacin and both drugs could be used in a combined manner.
Differences in origin of the 1448C mutation in patients with Gaucher disease
Authors: IWASAWA KYOKO , IDA HIROYUKI , ETO YOSHIKATSU
Published: January 2011

Gaucher disease (GD) can be caused by any of over 50 mutations of the gene of glucocerebrosidase (D‐glucosyl acylsphingosine glucohydrolase; EC 3.2.1.45). The 1448T to C mutation is found among all ethnic groups. In Ashkenazi Jews, the patients who are homozygous for the 1448C mutation are associated with the neuropathic form of the disease, but this is not the case in Japanese patients. This present study was the analysis of the two haplotypes, the Pv1.1 and the liver/erythrocytes pyruvate kinase (PKLR), in Japanese GD patients who were homo‐ or heterozygous for the 1448C mutation, and comparison of the results with other ethnic patients with the same genotypes in order to show ethnic differences. Of 28 patients, 20 had type I disease (7 were homozygous for the 1448C), five had type II (1 was homozygous) and 3 had type III (all were heterozygous). In Japanese GD patients with the 1448C mutation, the two haplotypes showed complete matching in (+) or (‐). The Pv1.1/PKLR(+) alleles accounted for 84.0% and this frequency was opposite to that reported in Ashkenazi Jews and other Caucasians. The 1448C homozygous state showed no obvious linkage with either of the haplotypes. From this haplotype analysis, it is postulated that the origin of the 1448C mutation in Japanese GD patients is different from that reported in other ethnic groups.
A case of an iliopsoas abscess in a neonate
Authors: NATSUME HIROMUNE , NAKANISHI TOSHIKI , NAKAGAWA YUICHI , IGARASHI YOSHIO
Published: January 2011

The present study describes a male neonate with an iliopsoas abscess. He was born by Caesarean section at 35 weeks and 3 days gestation. At 24‐days‐old he had a fever and localized swelling of the groin to the femur. By ultrasonography (US) and computed tomography (CT), the swelling was diagnosed as iliopsoas abscess. We treated him through percutaneous needle drainage and antibiotics. Methicillin‐resistant Staphylococcus aureus (MRSA) was detected in the culture of the fluid from the abscess and the urine. US and CT were useful for the diagnosis and provided guidance for the needle puncture and follow‐up of the iliopsoas abscess.
Diffuse fibromatosis on the scalp in infancy: A variant of juvenile hyaline fibromatosis
Authors: ISHII EIICHI , HAYASHIDA YUTAKA , TORII YOSHIKUNI , IRIE KOHJI , OGAWA TOSHIYUKI , NOGUCHI SHINICHI , TSUNEYOSHI MASAZUMI
Published: January 2011

Various types of fibromatosis have been reported in infancy and early childhood. We describe an infant with diffuse fibromatosis on the scalp. A one year and five months‐old girl showed a diffuse and hard mass 3 × 5 cm in diameter and no tenderness on the scalp. Two months later, the size of the mass had increased and several other tumors appeared on the lateral head. The magnetic resonance imaging (MRI) disclosed that a large and diffuse tumor had spread from the frontal to occipital head; a ‘helmet‐like’ configuration of the tumor was exhibited on sagittal MR images. The tumor showed high signal intensity on T2‐weighted images and was enhanced with Gd‐DTPA. Histological examination showed a fibroblastic proliferation with intervening thick collagen bundles. The patient was diagnosed as having diffuse fibromatosis. The tumor at the resection site immediately recurred, whereas the tumor in the frontal head showed marked regression. Three months after the resection, new tumors appeared in the occipital head. The size and number of these tumors have remained unchanged for more than 18 months. The sites and appearance of the tumors were identical to that of juvenile hyaline fibromatosis (JHF) in this patient. However, JHF usually includes fibroblasts associated with large amounts of hyalinized collagen‐like material, which were not present in our patient. The different histology of JHF comparing our case and other reported cases may depend on the different phase of the disease progression at resection. Long‐term observation is necessary for the appropriate diagnosis and evaluation of prognosis in this patient.
A Japanese boy with Young‐Simpson syndrome
Authors: NAKAMURA TOSHIHIKO , NOMA SEIJI
Published: January 2011

In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low‐set ears and micrognathia. This study presents an 8‐month‐old boy with virtually identical features to those in Young and Simpson's original case. The patient is a sporadic case and his parents are unrelated and phenotypically normal, hence the family data corresponds to any mode of inheritance. This is the first male case reported in the world and the first in Orientals.
Lingual cyst in infancy: Importance of palpation for diagnosis
Authors: KANEKO KAZUNARI , TAKAHASHI KEN , UNNO ATSUSHI , TAKAGI MASATOSHI , MARUYAMA TAKESHI , OBINATA KAORU , TSUCHIHASHI NOBUAKI , KAWASHIRO NOBUKO , SAKAI HIROKAZU
Published: January 2011

Two infants, 5 and 12 weeks of age, with lingual cysts were presented. Histological findings were compatible with a salivary retention cyst in one and a thyroglossal duct cyst in the other. Both infants were admitted to our hospital because of severe stridor that had developed from one to two weeks of age. Their lingual cysts were easily recognizable by simple palpation and were confirmed by non‐invasive imaging techniques, such as ultrasound sonography, computed tomography and magnetic resonance imaging. Lingual cyst in infancy may be large enough to cause stridor and dyspnea, and occasionally result in sudden infant death, although once diagnosis is made a radical operation can be easily performed. Therefore, it is important that palpation in the oral cavity should be performed with all infants with persistent stridor as a part of a physical examination.
Hypercalcemia in children: An overview
Authors: NISHIYAMA SOROKU
Published: January 2011

Hypercalcemia occurs in children of all ages. A serum calcium level over 15 mg/dL can be life‐threatening. The association between familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NHPT) has been discussed. FHH is characterized by a high serum calcium concentration, relatively low urine calcium excretion, and an inappropriately normal parathyroid hormone (PTH) concentration. On the other hand, NHPT is a rare disease characterized by markedly increased serum calcium (15 mg/dL) and PTH concentrations, and is fatal without parathyroidectomy early in life. Recently, a complementary DNA encoding an extracellular calcium‐sensing receptor has been isolated. Furthermore, three mutations in the receptor gene in FHH and NHPT individuals have been described. Thus, heterozygotes and homozygotes of FHH may have an intermittent hypercalcemia and NHPT, respectively. Vitamin D‐related hypercalcemia, and vitamin D intoxication and immobilization are also discussed.
Recent advances in molecular analysis of skeletal dysplasia
Authors: OZONO KEIICHI
Published: January 2011

Recent advances in molecular and cellular biology have contributed significantly to the elucidation of the pathogenesis of many kinds of skeletal dysplasia. The number of skeletal dysplastic diseases that are identified to have associated abnormalities in genes has increased. Some diseases such as achondroplasia, thanatophoric dysplasia and hypochondroplasia are shown to be allelic. In addition to those diseases associated with mutations of the fibroblast growth factor receptor 3 gene, the abnormalities in collagen, Gsα, vitamin D receptor and tissue nonspecific alkaline phosphatase genes are briefly reviewed in this article.
Diagnosis of X‐linked hypophosphatemia vitamin D resistant rickets
Authors: YAMAMOTO TAKEHISA
Published: January 2011

Recent advances in the pathophysiology and diagnosis of X‐linked hypophosphatemic rickets (XLH) are reviewed. The recent discovery of the gene that is responsible for XLH especially enables us to understand the mechanism of hypophosphatemia in XLH. Laboratory and radiological findings are important for the diagnosis. However, dental abnormalities such as spontaneous dental abscess and a defect of dentin maturation are also notable findings.
Genetic analysis of hypophosphatasia
Authors: SATO SEIJI , MATSUO NOBUTAKE
Published: January 2011

A review is presented of the recent advances in: (i) clinical features, (ii) biochemistry and molecular biology of alkaline phosphatase, (iii) genetic defect in hypophosphatasia, and (iv) prenatal diagnosis. Despite the recent progress, the pathogenesis of hypophosphatasia is far from being elucidated. More clinical cases and further characterization of the alkaline phosphatase gene mutations are needed for better understanding of the clinical spectrum of the entity.