bluuebunny/crossref_metadata_2025_split huggingface dataset:
Proteus syndrome with renal involvement
Authors: SATO TADASHI , OTA MITUHIRO , MIYAZAKI SUMIO 
Published: January 2011

AbstractWe 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

AbstractA 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

AbstractWe 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

AbstractWe 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

AbstractWe 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

AbstractWe 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

AbstractIn 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

AbstractCases 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

AbstractA 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

AbstractPrimary 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

AbstractThe 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

AbstractIn 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

AbstractAttention 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

AbstractGene 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

AbstractMeasles 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

AbstractEighty 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

AbstractA 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

AbstractThe 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

AbstractFive 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

AbstractAn 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

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

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

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

AbstractTwo infants with pneumonia caused by both Bordetella pertussis and respiratory syncytial virus (RS virus) suffered respiratory failure preceded by convulsion. Detection of respiratory pathogens with polymerase chain reaction and enzyme‐linked immunosorbent assay was crucial in the management of dually infected infants.