bluuebunny/crossref_metadata_2025 huggingface dataset:
Cardiac hydatid cyst in a child: Diagnostic value of echocardiography and magnetic resonance imaging
Authors: ALEHAN DURSUN , ÇELİKER ALPAY , AYDINGÖZ ÜSTÜN
Published: January 2011

Cardiac hydatid cyst is extremely rare in children. We report a case of a cardiac echinococcal cyst in an 11 year old boy, diagnosed by two‐dimensional echocardiography and magnetic resonance imaging (MRI). The cyst was located in the posterior wall of the left ventricle and was excised surgically. Echocardiographic and MRI findings are discussed.
Long‐term sequential changes of antibody to p40tax in HTLV‐I carrier mothers and children
Authors: KUSUHARA KOICHI , UEDA KOHJI , TOKUGAWA KEN , MIYAZAKI CHIAKI , OKADA KENJI , SAWADA TAKASHI
Published: January 2011

Antibody to p40tax (anti‐p40tax) in serum specimens obtained sequentially from a human T cell lymphotropic virus type I carrier population of mothers and children were assayed. The prevalences of anti‐p40tax at the initial sampling were 88% (7/8) in children and 55% (16/29) in mothers. Two of the seven positive children lost their anti‐p40tax during the investigation period, resulting in a final prevalence of 63% (5/8) in children. However, anti‐p40tax status was constant in all the 22 mothers with multiple serum samples (15 remained positive and seven remained negative). A decline in the absorbance value of EIA for anti‐p40tax was observed in seven of the 15 anti‐p40tax positive mothers. This decline may result in the disappearance of anti‐p40tax in some of them.
Elastase and cell matrix interactions in the pathobiology of vascular disease
Authors: RABINOVITCH MARLENE
Published: January 2011

Ultrastructural observations in lung tissue implicated an endogenous vascular elastase (EVE), in the pathobiology of pulmonary vascular disease. In experimental rats, increased activity of a 20 kDa serine proteinase related to adipsin precedes the development of sustained pulmonary hypertension and vascular abnormalities. A further increase in activity is related to malignant progression of the disease. A cause and effect relationship was suggested by studies in which elastase inhibitors successfully prevented or retarded progression of pulmonary hypertension. In vitro studies have shown that both serum and endothelial factors induce EVE via tyrosine kinase intracellular signalling. Induction of EVE can release basic fibroblast growth factor from the extracellular matrix in an active form stimulating smooth muscle cell proliferation. Elastase activity was also observed in the process of smooth muscle cell migration and neointimal formation in coronary arteries following experimental cardiac transplantation. An immune/inflammatory response is observed with increased production of cytokines, tumor necrosis factor‐α and interleukin (IL)‐1β, reciprocally up‐regulating production of fibronectin, a glycoprotein which mediated smooth muscle cell migration. The action of IL‐1β in inducing fibronectin is facilitated by the production of elastin peptides generated by increased activity of an elastase in the coronary arteries. Our studies suggest that ligation of the elastin binding protein by elastin peptides unmasks IL‐1 receptors. Fibronectin also stimulates transendothelial migration of lymphocytes which perpetuates the inflammatory response leading to neointimal formation in this model. Masking integrins on T cells with a decoy synthetic CS‐1 (fibronectin) peptide largely prevented transendothelial migration and coronary neointimal formation following cardiac transplant.
Prevalence of appendectomy in Japanese families
Authors: HIRAIWA HISAYUKI , UMEMOTO MASAKAZU , TAKE HIROMICHI
Published: January 2011

We investigated the prevalence of appendectomy in Japan to determine the tendency of familial aggregation on appendicitis using a large scale study. A total of 517 Japanese women (aged 20 to 45 years) served as the subjects and were questioned regarding their family history of appendectomy due to appendicitis. We compared the prevalence of appendectomy in children (subjects + their siblings) of three groups of families: (i) both parents affected; (ii) one parent affected; (iii) no parents affected. The differences between groups were statistically significant using contingency table and Chi‐squared test. Our results suggest that about 40% of children with both parents affected, and about 20% of children with one parent affected may develop the disorder during childhood. This study may provide useful information in the nature of the development of appendicitis.
Cerebrospinal fluid amino acid levels in newborn infants with intracranial hemorrhage
Authors: YURDAKÖK MURAT , COŞKUN TURGAY , ERDEM GÜLŞEN , GÖKTOGAN ŞAFAK , ÖZALP İMRAN , TEKİNALP GÜLSEVİN
Published: January 2011

Cerebrospinal fluid (CSF) amino acid levels including excitatory amino acids (i.e. glutamate and aspartate) in 25 preterm and 18 full‐term newborn infants with no serious disease except intracranial hemorrhage (ICH) were measured. ICH was detected in 13 preterm and six full‐term infants on the basis of the clinical, lumbar puncture (LP) and cranial ultrasonography (CraUSG) findings. Twelve preterm and 12 full‐term infants who were neurologically healthy comprised the control group. The mean concentration of CSF amino acids did not differ between preterm and full‐term infants. The CSF concentrations of taurine, threonine, glycine, alanine, valine, isoleucine, leucine, tyrosine and phenylalanine in preterm infants, and threonine, aspartic acid and alanine in full‐term infants were significantly elevated in infants with ICH. These abnormalities, especially in preterm infants, are probably related to cerebral hypoxia in CSF amino acid concentrations in newborn infants with ICH.
Hurler syndrome with severe complication in post‐bone marrow transplantation course: Life threatening interstitial pneumonitis and hypertension
Authors: OHASHI TOYA , TAHARA TAKAHIRO , FUJISAWA KOUJI , HOSHI YASUTAKA , ITO FUMIYUKI , SUZUKI NAOKI , ETO YOSHIKATSU , MAEKAWA KIHEI
Published: January 2011

Bone marrow transplantation (BMT) was performed in a 3 year old patient with Hurler syndrome. The post‐BMT course was complicated by interstitial pneumonitis and severe hypertension, which were life threatening. The patient responded well to therapy and recovered. BMT in this patient resulted in significant clinical improvement in the signs and symptoms of Hurler syndrome. Biochemical improvement, including elevated α‐l‐iduronidase activity in white blood cells and decreased urinary glycosaminoglycan excretion was significant. However, skeletal and neurological impairment were not improved. We conclude that BMT for Hurler syndrome should be performed at an earlier stage, before severe neuronal damage has occurred. Moreover, BMT is a high risk procedure and there will always be a possibility that life threatening complications will occur, as in our case.
Accelerated ventricular rhythm in the newborn
Authors: KUROTOBI SHUNJI , MATSUSHITA TOHRU , TAKEUCHI MAKOTO , KOGAKI SHIGETOYO , SANO TETSUYA , ABE JIRO , OKADA SHINTARO
Published: January 2011

Accelerated ventricular rhythm was observed in two newborn infants. Neither of them had any causative clinical symptoms for the ventricular arrhythmia. The arrhythmia disappeared when the infants were 18 days and 45 days old, respectively. Arrhythmia was noted in the fetal period, especially in case 1.
A sex reversal infant with XX karyotype and complete male external genitalia
Authors: NOMURA YOKO , YAGI HIDEKI , ONIGATA KAZUMICHI , YUTANI SHIGENORI , NAGASHIMA TOMOHISA , OGAWA RYO , NAGASHIMA KANJI , MORIKAWA AKIHIRO
Published: January 2011

The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosoms.

We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex‐determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation.

These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype.
Struggles of neonatology staff and the network system in the Hanshin‐Awaji earthquake disaster
Authors: TSUNEISHI SYUICHI , NAKAMURA HAJIME
Published: January 2011

More than 5500 people were killed in the Hanshin‐Awaji earthquake disaster. Most of the neonatal intensive care units (NICU) could not offer proper services as a result of the earthquake and the Hyogo Emergency System for Neonates could not function. No one imagined that such a great disaster would occur in their home town, Kobe; however, the devastation of the quake has raised the opportunity to examine the operation of neonatal medicine in an emergency.

We sent out questionnaires to perinatologists in the damaged area 2–3 months after the quake. Some hospitals in the demolished area suffered such serious damage that they could not continue work as NICU, and some in the surrounding area had problems in a number of areas, including staff, room capacity and transport methods. Under these difficult circumstances the greatest problem encountered by staff was maintaining fundamental care in NICU, that is to say keeping temperature, formula (nutrition) and prevention of infection techniques operating.

In this report we discuss the effects on neonatal medicine of the earthquake in Kobe. Medical staff struggled patiently and made great efforts to recover and maintain the functioning of NICU. We believe this information will be useful for neonatology staff in other areas which may experience an earthquake in the future.
Perinatal medical support in the area surrounding the Hanshin‐Awaji earthquake
Authors: KUSUDA SATOSHI , FUJIMURA MASANORI , TAKEUCHI TORU
Published: January 2011

After natural disaster, perinatal medical care must usually be provided from outside the disaster area, because most of the medical efforts inside the area focus on patients without special needs. This study reviews the emergency perinatal medical response after the great Hanshin‐Awaji earthquake.

In the present study, we summarize records of telephone calls and reports from the Neonatal Mutual Cooperative System (NMCS). The day of the earthquake, very little information was available to or from the disaster area. The day after the earthquake, Osaka City General Hospital (OCGH) and Osaka Medical Center and Research Institute for Maternal and Child Health were established as key facilities, and OCGH served as a center through which information passed to and from the disaster area. Most telephone calls to OCGH were placed on the second day after the earthquake by pregnant women concerned about their deliveries. Many high‐risk pregnancies and newborn infants were transferred out of the disaster area over the next month.

This analysis shows that although the emergency response was very rapid in this instance, the operation may be significantly improved in disasters of this magnitude: (i) if a communication mechanism able to serve a large volume is established; (ii) if helicopter transport was easily available; and (iii) if key facilities to handle communications were previously established so as to be available immediately.
Difficulties of families with handicapped children after the Hanshin‐Awaji earthquake
Authors: TAKADA SATOSHI , SHINTANI YUKIHIRO , SOHMA OSAMU , TSUNEISHI SYUICHI , UETANI YOSHIYUKI , NAKAMURA HAJIME
Published: January 2011

In order to clarify the difficulties which handicapped people experienced in the Hanshin‐Awaji earthquake disaster, 678 families with handicapped children were studied 1.5 months after the earthquake.

All the students who were enrolled in this study were going to some type of school or training classes for handicapped children in January 1995. The study was completed between 1 and 10 March. The questionnaires which were designed for this study consisted of three parts: the difficulties which the families were faced with, their requirements for social and medical services and the symptoms and reactions of their children after the earthquake. A total of 466 answers were obtained from their parents.

The kinds of difficulties differed between the families of mentally retarded children and those of the physically handicapped. While many parents with physically handicapped children desired better medical information or materials, many parents with mentally retarded children wanted better care services for their children. Physical and psychological effects of the earthquake were only temporary in most cases. However, some of the handicapped children were still suffering from such reactions as of 10 March.

From the results of our study it became evident that a systematic relief program for these handicapped people should be established. The relief program should include the distribution of information regarding medical and social services. Psychological reactions such as panic, excitement and suppression of mental activity were still observed in some handicapped children on 10 March. Further observation will therefore be necessary.
Treating early mental health and post‐traumatic symptoms of children in the Hanshin‐Awaji earthquake
Authors: NAGAO K. , OKUYAMA M. , MIYAMOTO S. , HABA T.
Published: January 2011

In this article we report on the support facilities for child mental health after the earthquake in Kobe. We believe that the most important function is the ability to cope with the confused situation on‐the‐spot as there were no means of transport and facilities for medical treatment had been paralyzed.

Establishing contact with people outside the stricken area is of great help immediately following a disaster. After the earthquake many children were psychologically confused and people were therefore concerned with mental health care, especially for their children. However, there were only a few cases of patients seeing their doctors in medical centers. They needed information booklets or case reports to refer to.

Five months after the disaster symptoms such as acute uneasiness or terror seem to be few and severely ill patients have started to recover. There are few case reports on children who have had difficulties in adapting to educational organization such as day nurseries and elementary schools. However, recently there has been an increase in the number of bone fractures possibly due to decline in resistance. Means of dealing with child mental health are now being examined because some children are still suffering posttraumatic symptoms.

In this report we analyze the rapid recognition of children's mental health problems at home, in the school and in society and examine the importance of close mother‐child, family and relative relationships.
Changes with growth hormone treatment in growth hormone deficient children
Authors: ÖCAL GÖNÜL , BERBEROGLU MERIH , AKÇURİN SEMA , MEMİOGLU NIHAL , İKİNCİOGULLARI AYDAN
Published: January 2011

A total of 54 previously untreated patients (15 girls, 39 boys) with poor growth due to idiopathic growth hormone deficiency (IGHD) were treated with human growth hormone (hGH), continuously up to 4 years. All of the patients had a peak hGH level which was below 10 ng/mL after at least two pharmacological tests and/or blunted physiologic hGH secretion, and their height was below −2.5 s.d. for age and gender.

After the 1st year of therapy, height velocity (HV) increased significantly when compared with baseline (from 3.18 ±0.76 cm/year to 9.17±1.03 cm/year; P <0.001), declined during the 2nd year and then remained significantly higher than pretreatment HV. When considering improvement in height expressed by height standard deviation score (SDS), during the therapy all of the patients showed a significant gain ± 1.72±1.09 (from −4.11±0.61 to −2.21±0.48). The height values were significantly higher than pretreatment, but remained below −2 s.d. after 4 years of hGH therapy in our patients. Increased height velocity has been sustained, but height improvement after therapy was inversely correlated to height SDS for chronological age of patients at the start of therapy.

In conclusion post‐treatment height has been shown to be related to height deficit at the beginning of therapy.

Therapy was well tolerated with no local or systemic adverse effects or acceleration of bone age.
Effects of cytokines on hematopoietic progenitor cells in cord blood, in bone marrow, and in peripheral blood mobilized by chemotherapy and G‐CSF
Authors: URASHIMA MITSUYOSHI , HOSHI YASUTAKA , AKIYAMA MASAHARU , KAMIJO MAKOTO , SHISHIKURA AKIHIRO , KATO YOKO , AKATSUKA JUN‐ICHI , MAEKAWA KIHEI
Published: January 2011

We compared the effects of various combinations of cytokines (stem cell factor [SCF], interleukin [IL] −3, IL‐6, granulocyte‐colony stimulating factor [G‐CSF], erythropoietin [EPO]) among the growth of human hematopoietic progenitor cells from cord blood (CB), bone marrow (BM), and peripheral blood mononuclear cells (MNC) mobilized by chemotherapy and G‐CSF (PB) in a semi‐solid medium. Macroscopic colonies, that were visible to the naked eye, were formed from PB‐MNC within 1 week even without cytokines. They consisted of blasts containing macrophage‐like cells with immature nuclei on Wright stain, and were strongly accelerated by IL‐3. Macroscopic colonies were also formed from CB‐MNC. However, they appeared after 1–3 weeks and synergistic effects of SCF with other cytokines, especially EPO, were prominent. Macroscopic colonies were not formed from BM‐MNC. Granulocyte‐colony stimulating factor was effective in increasing colony forming units of granulocyte macrophage from BM‐MNC and they appeared between 1 and 2 weeks. These results suggested that the quality of hematopoietic progenitor cells was different among blood sources. This might lead to different bone marrow recovery patterns after transplantation of each blood source. The appropriate cytokines should be added to evaluate their exact potential.
Urine microscopy on a counting chamber for diagnosis of urinary infection
Authors: HIRAOKA MASAHIRO , HIDA YUKIO , HORI CHIKAHIDE , TSUCHIDA SHINYA , KURODA MITSUHIKO , SUDO MASAKATSU
Published: January 2011

Several quantitiative methods of urine microscopic examination for bacteriuria and pyuria on a blood cell counting‐chamber have been found reliable for the diagnosis of urinary tract infection (UTI). However, no one technique has become popular or widely used because of laborious procedures associated with the method. We investigated the usefulness of microscopic examination of uncentrifuged urine on disposable counting‐chambers.

A total of 89 urine samples were obtained from 53 children (24 male and 29 female). Urine samples were examined for bacteriuria and pyuria using a disposable counting chamber and its reliability was analyzed in predicting significant bacteriuria defined by routine urine culture.

Significant bacteriuria was diagnosed in 23 of 89 urine samples by urine culture. Microscopic urine examination on disposable counting‐chambers was very easy without the need to set up or wash chambers and provided immediate information. Urine bacterial concentration determined by the counting‐chamber method was closely correlated to that determined by bacterial culture. The counting‐chamber method identified bacteriuria correctly in 21 of 23 urine samples diagnosed as significant bacteriuria (sensitivity = 91%) and also gave a correct diagnosis of 64 of 66 urine samples with non‐significant bacteriuria (specificity = 98%). Nineteen of the 23 urine samples with significant bacteriuria also had pyuria. The positive predictive value of concomitant bacteriuria and pyuria was 100%. When neither bacteriuria nor pyuria was found, the negative predictive value was 100%.

It was concluded that urine microscopy using disposable counting chambers was very easy, inexpensive, quick and reliable and thus an extremely useful method for diagnosing UTI.
Ranitidine administration in Henoch‐Schönlein vasculitis
Authors: NARİN NAZMİ , AKÇORAL ADNAN , ASLIN M. İZZET , ELMASTAS HÜSEYİN
Published: January 2011

In this study, we discuss 12 patients with gastrointestinal (GI) bleeding who were diagnosed as having Henoch Schoenlein vasculitis (HSV) in Dr Behçet Uz Children's Hospital, Izmir, between January 1991 and January 1992. Seven male and five female patients were included in the study. Their ages ranged between 6–14 years. The patients were separated into two identical groups and were given ranitidine or a placebo. Both groups were followed up for abdominal pain and GI bleeding. In the group administered ranitidine the duration and severity of abdominal pain and gastrointestinal bleeding decreased significantly as compared to the group taking placebo (P <0.05). No side effects of ranitidine were observed. As a result, it was concluded that ranitidine could be used to treat HSV with GI symptoms.
A longitudinal study on electrophysiological properties of atrioventricular accessory pathways in infants and children
Authors: DING SHULAN , SUMITOMO NAOKATA , USHINOHAMA HIROYA , YAMASHITA TSUNEHISA , HARADA KENSUKE
Published: January 2011

In this study the electrophysiological developmental changes of accessory pathway (AP) properties in infants and children are examined. Intracardiac and/or transesophageal electrophysiological studies were performed on seven infants (group 1, mean age 2 months) and four children (group 2, mean age 9 y; study 1), and documented orthodromic atrioventricular tachycardia in all cases. At follow‐up study (study 2), supraventricular tachycardia was induced in three of seven (43%) cases in group 1 and in all four cases in group 2. Changes in antegrade conduction properties of AP were documented by loss of pre‐excitation (two of four cases in group 1) or change to intermittent pre‐excitation (one of two cases in group 2).
Twenty‐four hour monitoring of blood pressure and heart rate in patients with chronic renal failure or renal transplant recipients: Analysis by the cosinor method
Authors: NAKAMURA IKUYA , TSUZUKI KAZUO , ITO SHIGEMITSU
Published: January 2011

Hypertension is a major problem of patients with chronic renal failure or renal transplant recipients. To clarify the characteristics of blood pressure, heart rate, and circadian rhythms of these patients we used an ambulatory blood pressure monitor (ABPM) for 24 h monitoring and analyzed the data by the cosinor method. In eight chronic renal failure patients without dialysis the midline estimating statistic of rhythm (MESOR) of diastolic blood pressure was higher than in controls, but the MESOR of systolic blood pressure was not. Of 11 patients on dialysis some had hypertension and some had hypotension. In 14 renal transplant recipients, especially those with chronic graft rejection, the MESOR of systolic and diastolic pressures were higher than controls, and the increase of blood pressure MESOR had a significant correlation with the elevation of serum creatinine levels. Circadian rhythms of blood pressure were frequently absent in the patients on dialysis, but circadian rhythms of heart rate were not. The use of an ABPM is a non‐invasive method to monitor patients and allowed us to know changes of blood pressure and heart rate in the daytime as well as during the night. For the control of hypertension in chronic renal failure, monitoring with an ABPM seems to provide invaluable information.
Fetal valproate syndrome with reduction deformity of limb
Authors: OKADA TAISUKE , TOMODA TAKASHI , HISAKAWA HIROAKI , KURASHIGE TAKANOBU
Published: January 2011

A case is reported of a female infant having multiple anomalies, including epicanthic folds, hypertelorism, bifid nasal bridge, shallow philtrum, low‐set ears, brain atrophy, cleft palate, hemangioma on the chest, and reduction deformity of the left upper limb. This is the first case where an infant who was exposed to sodium valproate intra‐uterine has a reduction deformity of the upper limb.
Hypoplastic left heart syndrome with a single coronary artery originating from the pulmonary artery
Authors: ITO TAKUO , NIINO MASAHARU , ISHIKAWA JUNICHI , MATSUMOTO SHUHEI , MATSUURA TOSHIHITO , AOI TSUTOMU , MUKAIDA TAKAMICHI , MATSUDA HIROSHI , ANDO MASAHIKO
Published: January 2011

A newborn male infant with hypoplastic left heart syndrome due to mitral and aortic atresia died on the third day of life. Autopsy revealed a single coronary artery originating from the pulmonary artery, reversed coarctation of the aorta, a coronary sinus type atrial septal defect and stenosis of the left subclavian artery. To our knowledge, hypoplastic left heart syndrome associated with a single coronary artery originating from the pulmonary artery has never been reported in the English or Japanese literature. This may be the first such case.
Management of meconium aspiration syndrome by tracheobronchial lavage and replacement of Surfactant‐TA
Authors: IBARA SATOSHI , IKENOUE TSUYOMU , MURATA YUJI , SAKAMOTO HIROSHI , SAITO TSUYOSHI , NAKAMURA YASUTOSHI , ASANO HITOSHI , HIRANO TAKAHIRO , KURAYA KAZUE , MARUYAMA HIDEKI , NINOMIYA YUKO
Published: January 2011

Meconium aspiration syndrome creates mechanical airway obstruction with air trapping and atelectasis. Tracheobronchial saline lavage to dislodge meconium may precipitate respiratory distress, a wet lung appearance and respiratory failure. Two case studies are reported in which meconium aspiration resulted in mechanical obstruction and displacement of surfactant and in whom tracheobronchial saline lavage and artificial surfactant replacement reversed respiratory failure.
Marked increase of peripheral blood myeloblasts following G‐CSF therapy in a patient with acute lymphoblastic leukemia
Authors: HOSOKAWA TAKATOSHI , TOMODA TAKASHI , MISAKI YASUSHI , WAKIGUCHI HIROSHI , KURASHIGE TAKANOBU
Published: January 2011

A 9 year old boy with acute lymphoblastic leukemia (ALL) received recombinant human granulocyte colony‐stimulating factor (rhG‐CSF) and showed a marked increment of myeloblasts in the peripheral blood. He was administered repeated courses of intermediate‐dose cytosine arabinoside (Ara‐C) therapy (1500 mg/m2, days 1–5) for frequent central nervous system (CNS) relapse of ALL. The peripheral white blood cell nadir was less than 1000/μL, so he was treated with rhG‐CSF. A marked increment of peripheral blood blasts was noted 3–5 days after rhG‐CSF treatment. These cells decreased with the appearance of mature myeloid cells and disappeared about 2 weeks after the start of treatment. These findings suggested that the blasts might have the ability to differentiate into mature myeloid cells. A control patient with repeated CNS relapse of ALL showed no increment of peripheral blood blasts after similar repeated courses of Ara‐C without rhG‐CSF treatment. Cultured peripheral blood blasts obtained from the present patient showed differentiation into mature myeloid cells by morphological studies and surface marker analysis. These findings indicate that the peripheral blood blasts drawn by G‐CSF were not leukemic blasts but normal myeloblasts.
Proteus syndrome with renal involvement
Authors: SATO TADASHI , OTA MITUHIRO , MIYAZAKI SUMIO
Published: January 2011

We report on a case of an 11 year old girl with Proteus syndrome involving both kidneys morphologically and functionally. The patient had hemihypertrophy, scoliosis, overgrowth of lower extremities, partial macrodactyly, subcutaneous lipoma, and pigmented nevi compatible with the Proteus syndrome. She also had overgrowth of the right kidney with mildly impaired function and a small left kidney with severe dysfunction. Morphological involvement of visceral organs has previously been described; however, deteriorating renal function has not previously been reported in this syndrome.
A case of beriberi accompanying short bowel
Authors: HIROI KAZUHIRO , GOTO YOSHINORI , ISHIKAWA JUNICHI , KIDA KAICHI , MATSUDA HIROSHI
Published: January 2011

A case of beriberi based on short bowel is reported. A 4 year old girl, who underwent a resection of the intestine when a neonate and has had a short bowel, manifested beriberi despite eating normal Japanese food. Considering that she has had no dislikes of foods, and her family members, who have eaten meals similar to hers have been healthy, beriberi is considered in this case to have developed mainly through hypoabsorption of vitamin B1. This patient has responded well to vitamin B1 therapy with a relatively slow recovery in neural functions. Although it has not been confirmed whether short bowel syndrome is prone to be accompanied by beriberi, special attention should be given to vitamin B1 in short bowel syndrome patients.
An early onset of hereditary progressive dystonia with marked diurnal fluctuation: Determining clinical status using gait analysis
Authors: TANAKA HAJIME , ITO JUNICHI , TASAKI TAKUMI , CHO KAZUHIKO
Published: January 2011

We report on a 5 year old girl who has hereditary progressive dystonia with marked diurnal fluctuation that improved remarkably after treatment with L‐dopa. A gait analysis of the patient was done and we compared her gait patterns with those of a normal child. The following results were obtained. Before L‐dopa treatment: (i) knee extension time was prolonged with genu recurvatum; (ii) the flexors and the extensors were simultaneously activated in the stance phase, and reciprocity between them was impaired; and (iii) recorded sole contact was a toe‐only pattern. After L‐dopa treatment: (i) the step cycle was shorter mainly due to a shorter knee extension time; (ii) genu recurvatum improved; (iii) reciprocal activities of the flexors and the extensors were observed; and (iv) a normal sole contact pattern was also observed. The data from the gait analysis were useful in stabilizing the subject's clinical condition and in evaluating changes to it.
Partial clinical improvement in Upshaw‐Schulman syndrome following prostacyclin infusion
Authors: KONNO MUTSUKO , YOSHIOKA AKIRA , TAKASE TOSHIO , IMAI TOSHIO
Published: January 2011

We report on a Japanese girl with Upshaw‐Schulman syndrome, a congenital disorder characterized by recurrent thrombocytopenia, microangiopathic hemolytic anemia, proteinuria and hematuria that can be transiently improved by the transfusion of plasma or various plasma components. Unusually Large von Willebrand Factor (ULvWF) multimers were found during both relapse and remission phases. Serial plasma levels of 6‐keto‐prostaglandin F1α (PGF1α), the stable metabolite of prostacyclin (PGI2), were low at relapse. When the patient was treated with continuous PGI2 infusion, the microangiopathic hemolytic process gradually subsided within 10 days. These results suggest that PGI2 may be partly involved in the pathogenesis of this congenital disorder.
Weber‐Christian disease with benign cytophagic histiocytes in the skin lesion
Authors: INATOMI JUN , WATANABE KATSUYA , IGARASHI TAKASHI , HAYAKAWA HIROSHI
Published: January 2011

We describe an 8 year old female with Weber‐Christian disease who manifested erythema on her legs and an intermittent high fever. A wedge skin biopsy revealed lobular panniculitis and bean‐bag cells, which were characteristic to cytophagic histiocytic panniculitis (CHP). However, she showed no evidence of liver dysfunction, hyperlipidemia, or coagulation disorders usually seen in CHP. Moreover, she responded well to oral corticosteroids therapy with resultant advanced subcutaneous fat atrophy.
Anti‐neutrophil cytoplasmic antibody for proteinase 3 in a child with polyarteritis nodosa
Authors: ITO YUHEI , NISHI AKINORI , SAKAGUCHI MINAKO , SUZUKI YOSHIHARU , KANEKO KAZUNARI , YASUOKA CHIKAI , TOMITA SABUROU , KATO HIROHISA
Published: January 2011

We report a case of a 15 year old boy with polyarteritis nodosa associated with antineutrophil cytoplasmic antibody (ANCA) against proteinase 3 (PR3). After months of steroid and immunosuppressant therapy, the symptoms subsided and the polyaneurysms almost disappeared. The levels of anti‐PR3 antibody and of cytokines also decreased. The results indicate that ANCA is a good indicator of this disease activity, and may play some pathogenic role in the disease.
Effects of high‐dose intravenous methylprednisolone in children with acute rheumatic carditis
Authors: AKÇORAL ADNAN , ORAN BÜLENT , TAVLI VEDIDE , ÜNAL NURETTIN , ÇEVIK NECLA T
Published: January 2011

In order to measure the effects of high‐dose intravenous methylprednisolone (HIVMP) and compare its efficiency with that of oral prednisolone (OP), 18 patients with active rheumatic carditis were studied. Ten patients received OP, while eight patients were treated with HIVMP. Clinical and laboratory responses to treatment were followed by sleeping pulse rate, systolic blood pressure, erythrocyte sedimentation rate (ESR), cardiothoracic ratio (CTR), PR interval on electrocardiogram, spectral and color flow imaging and Doppler echocardiographic findings; mitral and aortic regurgitant jet flow area, left atrial area, proximal width of mitral regurgitant jet area and regurgitation fractions.

The results of patients in the HIVMP group showed statistically significant changes in ESR and CTR when compared with the patients receiving OP, and the recovery was more rapid.

HIVMP therapy can be considered as a new method of treatment for acute rheumatic carditis
Pericardial hydatid cyst with a fatal course
Authors: NARIN NAZMI , MEŞE TIMUR , ÜNAL NURETTIN , PINARLI SEMIH , CANGAR ŞÜKRÜ
Published: January 2011

Cases with cardiac hydatid cyst disease are uncommon, being approximately 0.2–2% of all cases. Most cardiac hydatid cysts are located in the interventricular septum or left ventricular wall. Pericardial location is very rare. We report on a 12 year old girl with pericardial hydatid cyst disease who was otherwise asymptomatic, having no cardiac symptomatology. Unfortunately the course of her disease was fatal. This is the first report of uncommon localized hydatid disease with a fatal outcome.
Segmental dilatation of the jejunum
Authors: YEGANE EROL MİR. ŞERAFETTİN , KARACA İRFAN , GÜNŞAR CÜNEYT , CEYLAN HALUK
Published: January 2011

A 6 months old girl with segmental dilatation of the jejunum is described. Clinical findings were intermittent colic, severe pain and bilious vomiting, mimicking intussusception. At laparatomy dilated jejunal segment was encountered and resection performed. Histological examination showed normal ganglion cells with normal bowel structures. Postoperative course was uneventful.
Hypercalciuria in renal glucosuria
Authors: KAVUKÇU SALIH , TÜRKMEN MEHMET , UZUNER NEVIN
Published: January 2011

Primary renal glucosuria is a benign condition in which serum glucose level is normal. Idiopathic hypercalciuria is defined as increased urinary calcium excretion of more than 4 mg/kg/day in normocalcemic individuals in whom all known causes of hypercalciuria have been excluded. In this paper, we report on a case who has both renal glucosuria and hypercalciuria.
Cardiovascular abnormalities in Noonan syndrome: The clinical findings and treatments
Authors: ISHIZAWA AKIRA , OHO SHIN‐ICHI , DODO HIDEMI , KATORI TATSUO , HOMMA SHIN‐ICHIRO
Published: January 2011

The clinical findings and treatment of cardiovascular abnormalities in 33 patients with Noonan syndrome are reviewed. Major cardiovascular abnormalities were pulmonary valvular stenosis in 17 patients (51.1%), hypertrophic cardiomyopathy (HCM) in 11 (33.3%), and atrial septal defect in 9 (27.3%). Dysplastic pulmonary valve was seen in 6 (35.3%). Balloon pulmonary valvuloplasty was performed for 4 patients with dysplastic pulmonary valves. Two patients were successfully treated. Surgical treatment was performed in 13 patients, 11 alive and 2 died. Two patients with HCM and arrhythmia died suddenly. In conclusion, balloon pulmonary valvuloplasty should be the initial palliation for dysplastic pulmonary valve in Noonan syndrome, and HCM is the risk factor for sudden death in Noonan syndrome.
Interleukin 8 and granulocyte elastase α1 proteinase inhibitor complex in the tracheobronchial aspirate of infants with chronic lung disease following intra‐uterine infection
Authors: TAKASAKI JIRO , OGAWA YUNOSUKE
Published: January 2011

In order to elucidate the role of interleukin 8 (IL‐8) in the development of chronic lung disease (CLD) of neonates with intra‐uterine infection, serial and simultaneous measurements of the concentration of IL‐8 and granulocyte elastase α1 proteinase inhibitor complex (E‐α1PI) in the tracheobronchial aspirate of low birth weight infants were conducted. Infants with a high serum IgM level at birth, and who subsequently developed CLD, showed significantly high concentrations of IL‐8 and E‐α1PI in the first 48 h. It seemed that IL‐8 stimulated neutrophils to release neutrophil enzymes which, in turn, caused the lung tissue injury, resulting in the development of CLD following intra‐uterine infection.
The safety of a nitric oxide inhalation system using a conventional infant respirator
Authors: SHIBATA YOSHIHIRO , OKAMOTO KAZUFUMI , SATO TOSHIHIDE , KUKITA ICHIRO , KIKUTA KOICHI
Published: January 2011

Attention is becoming increasingly focused on inhalation of nitric oxide (NO) as a selective pulmonary vasodilator. Its metabolite nitrogen dioxide (NO2), however, is a toxic molecule. The purpose of the present study was to evaluate the safety of a NO inhalation system using a conventional infant respirator from the viewpoint of NO2 production. The NO inhalation system consisted of a standard neonatal ventilator, a neonatal circuit and a test lung. The NO concentration was increased from 0 up to 19 ppm. 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 maximum concentration of NO2 was 0.10 ± 0.02 ppm when the concentrations of NO and O2 were 19 ppm and 100% respectively. The NO inhalation system, using a conventional infant respirator, can be used safely when monitoring NO and NO2 concentrations.
Current status and future prospects of human gene therapy
Authors: SHIMADA TAKASHI
Published: January 2011

Gene therapy is defined as the treatment of diseases by the transfer of genes into patients. Clinical trials of gene therapy became feasible as a result of the development of retroviral mediated gene transfer techniques. The first trial was begun in September 1990 at the National Institutes of Health when a four year old girl was treated for adenosine deaminase deficiency. Currently, more than 500 patients are being treated by this innovative therapeutic strategy. In the present review article, the basic concepts and present status of human gene therapy are summarized.
Clinical features of measles in immunocompromised children
Authors: NAKANO TAKASHI , SHIMONO YOSHIKI , SUGIYAMA KENJI , NISHIHARA HIDEHIRO , HIGASHIGAWA MASAMUNE , KOMADA YOSHIHIRO , ITO MASAHIRO , SAKURAI MINORU , YOSHIDA AZUSA , KITAMURA KENJI , IHARA TOSHIAKI , KAMIYA HITOSHI , HAMAZAKI MINORU , SATA TETSUTARO
Published: January 2011

Measles is often fatal for immunocompromised hosts. Protective immunity against measles has been studied but is still not completely understood. Recently, five cases of measles were encountered in immunocompromised children. Two of these were allogeneic bone marrow transplanted cases (one common variable immunodeficiency and one severe aplastic anemia) in remission, one Wilms' tumor case in remission, one hepatoblastoma case after cytotoxic therapy at disease onset and one exaggerating hemophagocytic syndrome case with suppressed natural killer cell activity. Clinical symptoms, laboratory findings and the immunologic backgrounds of these five patients were investigated.

One of the patients, an 8 year old boy with hemophagocytic syndrome, died of giant cell pneumonia which was confirmed in the section of necropsy lung specimen. Two other patients who received allogeneic bone marrow transplants were not immune to measles, despite their own and their donors' immunizations. Their clinical symptoms were rather severe but both patients recovered and have remained seropositive for as long as 13 months.

This fatality from measles is the first reported in a patient with hemophagocytic syndrome. Suppressed natural killer cell activity may be a poor prognostic factor. Also, secondary immunization failure for measles can occur in bone marrow transplanted patients with rather severe clinical symptoms.
Detection of human immunodeficiency virus‐1 DNA, RNA and antibody, and occult blood in inactivated saliva: Availability of the filter paper disk method
Authors: KAKIZAWA JUNKO , USHIJIMA HIROSHI , OKA SHINICHI , IKEDA YUSEI , SCHRÖDER HEINZ C , MÜLLER WERNER EG
Published: January 2011

Eighty three samples of saliva were collected from 60 subjects who were asymptomatic carriers of AIDS related complex (ARC) and AIDS. They included hemophiliacs, homosexuals and heterosexuals. Occult blood, human immunodeficiency virus‐1 (HIV‐1) antibody and DNA were assayed after heat treatment at 56°C by strip method, particle agglutination and polymerase chain reaction (PCR), respectively. HIV‐1 RNA was assayed by reverse transcription (RT)‐PCR after heat treatment at 56°C or 90°C, or after application to filter paper disks with drying and heat treatment at 90°C. Positive results were found in 53% (occult blood), 73% (HIV‐1 antibody), 23% (HIV‐1 DNA, 56°C), 34% (HIV‐1 RNA, 56°C), 33% (HIV‐1 RNA, 90°C) and 25% (HIV‐1 RNA, 90°C, filter paper disk), respectively.

The results did not depend on the stage of the disease or the route of infection. Other studies have reported the use of the filter paper disk method to detect antibodies against HIV and HIV genomes in blood samples. The present study demonstrated that it could also be used for the detection of HIV genomes in saliva samples.
The outbreak of mumps in a small island in Japan
Authors: ODA KEIKO , KATO HIROHISA , KONISHI AKIO
Published: January 2011

A major mumps outbreak occurred on a small island, Ikeshima, in Nagasaki Prefecture from August 1994 to February 1995. There were 236 patients with the mumps at Ikeshima Miners' Hospital during that period. The Measles‐Mumps‐Rubella (MMR, Toitsukabu) vaccination coverage in the 43 children at the nursery school was 65.1% and it was 61.9% in the 21 children aged 4–5 years not attending the nursery school. Coverage was 66.6% in the 63 kindergarten students and 53.7% in 56 first‐graders. The overall MMR vaccination coverage among these children was 61.7% (113/183) from 1989 to 1992. Children from the second grade to junior high school received monovalent mumps vaccine, Torii strain. None received Zishakabu MMR.

The age of the patients ranged from 1 to 43 years, with a mean of 9.1 years. The majority (77.5%) were primary school children. The attack rates for vaccinated and unvaccinated children in grades one to six were: 6.7% (2/30) and 88.5% (23/26), 25% (3/12) and 44.1% (30/68), 11.1% (1/9) and 64.4% (29/45), 25% (2/8) and 60% (45/79), 22.2% (2/9) and 35.9% (28/78), 0% (0/5) and 24.7% (18/73), respectively. The overall frequency in the primary school was 41.4% (183/442 children). The frequency in the nursery school for children aged 4–5 years was 14.0% (6/43). It was 17.5% (11/63) in children aged 5–6 years in the kindergarten, 5.2% (11/213) in children not attending school with an age range of 1–5 years, and 4.2% (10/237) in junior high school students. Although the frequencies of MMR coverage for the nursery school children and kindergarteners were not high enough to eradicate mumps outbreaks, the MMR vaccination program was thought to have influenced the low frequency of mumps among the children. Close physical interactions among the first‐graders would have contributed to their high frequency of mumps.

Some patients presented with suspected mumps parotitis several times, but no such serological confirmation of reinfection was obtained.
Definitions of severely mentally and physically disabled children in Japan: Do the differences affect the prevalence rates of these children?
Authors: NAKADA YUKIKATSU , KAMIYA KYOKO , TAKAESU ETSUKO , OHSHIRO SATOSHI , HOKAMA TOMIKO , NAKASONE SATOSHI , HIRAYAMA KIYOTAKE
Published: January 2011

The prevalence rate of severely mentally and physically disabled children (SDC) aged 6–15 years in Okinawa prefecture on 1 May 1989 was 0.74/1000 (143/192 038) according to Oshima's classification, compared with 0.89/1000 (170/192 038) according to the Ministry of Education's classification with minor modifications. The number of children in region classes 1, 2, 3 and 4 of Oshima's classification for SDC were 100, 34, 6 and 3, respectively. The difference (n = 27) between the total numbers of SDC according to the two classifications was mainly because of 21 children categorized as ‘walking with support’ who were included as SDC according to the Ministry of Education's classification but not as SDC according to Oshima's classification. Only region class 1 of Oshima's classification corresponded with region class 25 of the Ministry of Education's classification. The results of the present study indicate that the differences between the two definitions of SDC affect the reported prevalence rates of SDC. Therefore, changing patterns in the prevalence of SDC should be assessed by serial surveys using the same method in each district.
Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1
Authors: IDA HIROYUKI , RENNERT OWEN M , ITO TAKERU , MAEKAWA KIHEI , ETO YOSHIKATSU
Published: January 2011

Five fatal cases of Japanese patients with type 1 Gaucher disease were studied. The causes of death included hemorrhage secondary to esophageal varices (two cases), respiratory distress (one case), hepatic failure (one case) and postoperative sepsis (one case). All of the patients had previous splenectomies, four patients had bone involvement and hepatic cirrhosis. The identified Gaucher genotypes were 1448C/1213G, 1603T/1603T, 1448C/1390G, ?/? and 1213G/1213G. The prognosis of type 1 Gaucher disease is generally good. We propose that patients with a similar clinical course and genotype to those presented in the present study should receive prompt comprehensive treatment. Patients with the 1213G mutation, pulmonary and liver involvement and a previous splenectomy should be considered as candidates for early vigorous treatment.
A case of the cardiofacial syndrome (Cayler's syndrome)
Authors: ÇAKSEN HÜSEYİN , KURTOǦLU SELİM , ÜSTÜNBAŞ HASAN BASRİ , ÜZÜM KAZIM , NARİN NAZMİ
Published: January 2011

An infant whose face appears asymmetrical at rest and whose mouth is pulled downward to one side when crying is said to have an ‘asymmetric crying fades’ (ACF). The association of ACF with congenital cardiac anomalies is known as cardiofacial syndrome (Cayler's syndrome). The present report describes a case with cardiofacial syndrome and ACF associated other congenital anomalies, and provides criteria for differentiating absence of the depressor anguli oris muscle (DAOM) from palsy of the seventh cranial nerve and its central connections.
A newly identified exonic mutation of the WT1 gene in a patient with Denys‐Drash syndrome
Authors: TSUDA MASAHIKO , SAKIYAMA TAKESHI , OWADA MISAO , CHIBA YASUSHI
Published: January 2011

An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys‐Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. Direct sequencing analysis of genomic DNA from this patient revealed a G to A transition resulting in 366Arg to Leu substitution in exon 8 which has hitherto not been described. This newly identified mutation will help in the understanding of functional domains and in making a diagnosis of Denys‐Drash syndrome.