bluuebunny/crossref_metadata_2025_split huggingface dataset:
Outcome of Displacement Bone Marrow Transplantation for Inborn Errors of Metabolism
Authors: Hobbs J.R. 
Published: October 2007

AbstractThe concept of displacement bone marrow transplantation arose from our work at Westminster 1970–1973, by which time we had extended the donors from matched siblings to other family and unrelated donors. DBMT is not a panacea, but can be applied to about 7% of understood inborn errors, where it is possible to devise in vitro tests to predict in vivo donor effects. Its use to install donor bone marrow as a component factory for the life of the recipient, and the importance of immunoprophylaxis are summarised. Worthwhile correction has been achieved for 48 previously fatal genetic diseases, partial correction for another five, but there has been failure for three diseases. Some 80% of our patients were not found in known families and could not have been prevented.
Effector Mechanisms against Neuroblastoma Cells and Their Modulation by Lymphokines
Authors: Iwami Tetsuro , Yamashita Uki , Nakamura Hiroshi , Yamagishi Minoru 
Published: October 2007

AbstractThe susceptibility of four neuroblastoma (NB) cell lines, SKN‐DZ, GOTO, IMR‐32, and NB‐1 to natural killer (NK) cells and cytotoxic T cells (CTL) and its modulation by lymphokines were studied using a 51 Cr‐release assay in vitro. The cytotoxic activity against 4 NB cell lines differed very much from person to person. However, the activity from every donor was significantly enhanced by culturing of peripheral blood lymphocytes (PBL) with lymphokines, interleukin‐2 (IL2) or interferon (IFN), for 12 hours. Cold target inhibition assay revealed that the cytotoxic activity of IL2– or IFN‐treated cells against NB cell lines was nonspecific and was inhibited by NK‐sensitive K562. In addition, the CTL were not induced by culturing of PBL with mitomycin C‐treated NB cell lines for five days, even in the presence of IL2. These results suggest that it is not cytotoxic T cells but NK cells that are important as effector cells to NBs and that the increase in NK cell activity due to lymphokines may be of profound biological significance in immune surveillance of NBs.
Clinical Improvement with DMSO Treatment in a Patient with Niemann‐Pick Disease (Type C)
Authors: Sakuragawa Norio , Ohmura Kiyoshi , Suzuki Kikuo , Miyazato Yoshino 
Published: October 2007

AbstractA girl aged 8 years and 10 months with Niemann‐Pick disease (type C) presented with severe psychomotor deterioration, frequent seizures and hepatosplenomegaly. A brain CT showed marked cortical atrophy and moderate ventricular dilatation. A bone marrow smear showed foamy cells. Enzyme studies using fibroblasts showed a partial deficiency of acid sphingo‐myelinase which became normalized by DMSO treatment in cultured fibroblasts. The patient has been treated with DMSO orally for the past two years. Clinically, she has shown slight improvement in response to her surroundings. However, the spleen and liver have decreased in size markedly and recently are not palpable under the costal margins. Seizure frequency has decreased despite a tapering off of one of the anticonvulsants. The EEG's show marked improvement because the fast theta wave has become predominant in background activities and spindles show a good morphological configuration. Cortical atrophy on the CT has not progressed during the two years of treatment. No side effects have been observed clinically or in laboratory studies. We interpret that DMSO treatment shows beneficial clinical effects in a Niemann‐Pick patient (type C).
A Patient with Ring 9 Chromosome 46, XY, r(9)(p24.1q34.3)
Authors: Kasa Noriyoshi , Kasai Ryozo 
Published: October 2007

AbstractWe report the case of a male infant with a 46, XY, r(9)(p24.1q34.3) karyotype. He had developmental retardation and many dysmorphic features, such as trigonocephaly, ante‐verted nostrils, micrognathia, abnormal auricles, short neck, cardiopathy and increased frequency of digital whorls, in common with those of monosomy 9p syndrome.The normal activity of erythrocyte AK1 in this patient suggests that the locus of AK1 can be confined to 9q34.1→39q34.3 instead of the formerly assigned locus of 9q34.
Japanese Encephalitis in a 7‐Month‐Old Japanese Boy
Authors: Tamada Koichi , Kasai Hideaki , Hara Mitsuhiro , Aoyama Tatsuo , Takeuchi Yoshinao , Yamashita Ryoko 
Published: October 2007

A 7‐month‐old Japanese boy was diagnosed as having meningo‐encephalitis with anterior horn cell damage. The complement fixation (CF) and hemagglutination inhibition (HI) tests showed increased antibody titers against Japanese encephalitis (JE) virus,but HI antibody in the mother's serum was not increased. It appears that the lack of JE‐antibodies from the mother may have resulted in increased JE viral infectivity in the patient. A decrease in the incidence of antibodies against various viruses in women of childbearing age may lead to increased rates of severe viral infection in infants.
Pernicious Anemia in a Patient with Hypogammaglobulinemia
Authors: Moriuchi Hiroyuki , Takayanagi Toshimitsu , Yamasaki Shiro , Yasui Makoto , Mori Koichi , Yanai Masanori , Tsuji Yoshiro 
Published: October 2007

AbstractA 19‐year‐old male with pernicious anemia and hypogammaglobulinemia (common variable immunodeficiency: CVID) is reported in comparison with classical pernicious anemia. This case was characterized by an earlier onset of anemia, the absence of autoantibodies to intrinsic factor or gastric parietal cells and involvement of the pyloric antrum as well as the gastric corpus. It is suggested that dysregulation of cellular immunity produces the autoimmune lesion in the gastric mucosa, including the pyloric antrum, in a patient with CVID, and that some of such cases develop pernicious anemia.
HLA A Class II (DR, DQ) in Japanese Patients with Type 1 Diabetes Mellitus
Authors: Tanaka Masahiro , Abe Jun , Ito Junko , Horikawa Reiko , Miki Yuko , Nakayama Masayukio , Kohsaka Takao , Tanae Ayako , Hibi Itsuro 
Published: October 2007

DNA restriction fragment length polymorphism (RFLP) typing of HLA‐DR and DQ alleles of 60 Japanese type 1 (insulin dependent) diabetic patients and 115 controls was performed. RFLP typing of DRB1 showed increased frequency of DR9 and decreased frequencies of DR2 and DRW6 among patients compared to controls. In the RFLP typing of BamHI‐ digested DNA to DQ β probe (BamHI‐DQB1), the incidence of the 10.26 kb fragment, which represents either DQW4, DQW8 or DQW9, was markedly elevated in the patients, whereas the incidence of DQW6 was reduced. The predicted DR‐DQ haplotype study revealed that DR4‐DQW4 or DQW8, DRW8‐DQW4 or DQW8 and DR9‐DQW9 may contribute to susceptibility to type 1 diabetes. When serological typing of the 13 DRW8 patients was performed, all the 11 DRW8 patients carrying DQW4 or DQW8 (BamHI‐10.26 kb) were positive for DQW3.These results indicated that the HLA‐DQ locus may play an important role in the development of type 1 diabetes in the Japanese as well as other ethnic groups and that the DRW8‐ DQW8 haplotype may predispose to the disease in Japan.
Pulmonary Surfactant Apoprotein‐A in Neonates with Different Respiratory Disorders
Authors: Nagai Hiroshi , Ogawa Yunosuke , Eguchi Hideshi , Kamiya Kenji , Koyama Norihisa , Tanaka Taihei , Takasaki Jiro , Takada Eiko , Ohama Yoichi , Kaneko Koji , Yoshida Naoko 
Published: October 2007

A serial determination of pulmonary surfactant apoprotein‐A (SP‐A) was made on tracheal aspirates from seven intubated infants with different types of respiratory failure in the first week of life. A two‐site immunoassay with monoclonal antibodies was adopted to determine the SP‐A concentration. The concentrations of albumin in the same samples were also assayed, and these data were expressed as the ratio of SP‐A to albumin (SP‐A/albumin ratio), and evaluated against clinical data such as the arterial‐alveolar oxygen tension ratio (a/APO2) or ventilatory index. In infants with respiratory distress syndrome, the SP‐A/ albumin ratio was initially low, and increased gradually in the first few days of life with the improvement of a/APO2 and ventilatory index. The complication of pulmonary hemorrhage due to patent ductus arteriosus (PDA) resulted in a temporary decrease in the ratio. The infant with transient tachypnea of the newborn showed higher concentration from the first day of life and, in the course of PDA without pulmonary hemorrhage, the ratio did not decrease. The cases of congenital pneumonia showed the SP‐A/albumin ratio remaining low while the infection was evident.These data suggest that the SP‐A/albumin ratio of the tracheal aspirate can be used for the quantitative and qualitative evaluation of endogenous pulmonary surfactant in newborn infants with different respiratory disorders.
Tyrosinemia type Mike disease: A possible manifestation of 3‐oxo‐Δ4‐steroid 5β‐reductase deficiency
Authors: Kimura Akihiko , Endo Fumio , Kagimoto Seiichi , Inoue Toshiro , Suzuki Mikako , Kurosawa Takao , Tohma Masahiko , Fujisawa Takuji , Kato Hirohisa 
Published: October 2007

Abstract Background: It has been suggested that quantitative analysis of urinary bile acids may help to distinguish primary 3‐oxo‐δ4‐steroid 5β‐reductase deficiency from the excretion of 3‐oxo‐δ4 bile acids that occurs as a result of liver damage. Methods: Urinary bile acids were quantitatively analyzed by gas chromatography‐mass spectrometry in four Japanese patients with severe neonatal cholestasis associated with hypertyrosinemia without urinary succinyl‐acetone (i.e. tyrosinemia type I‐like disease). These four patients represented sporadic cases. Results: Large amounts of 3‐oxo‐δ4 bile acids were detected, which comprised greater than 80% of the total urinary bile acids. Small amounts of allo‐bile acids and primary bile acids were also detected, comprising less than 1% and 15% of the total urinary bile acids, respectively. Conclusions: It was suspected that these four patients had a primary 3‐oxo‐δ4‐steroid 5β‐reductase deficiency. However, it is possible that some patients in this study may have had a secondary 3‐oxo‐δ4‐steroid 5β‐reductase deficiency, caused by idiopathic neonatal cholestatic liver failure.
Evaluation of left ventricular volume using automatic border detection in children: A comparison with conventional off‐line echocardiographic quantification
Authors: Hashimoto Ikuo , Ichida Fukiko , Miura Masayoshi , Okabe Takashi , Shimura Shouetsu , Uese Kei‐Ichiro , Hamamichi Yuji , Tsubata Shin‐Ichl , Miyawaki Toshio , Fukahara Kazuaki , Murakami Arata 
Published: October 2007

Abstract Background: Evaluation of the clinical usefulness of the on‐line automatic border detection system for determination of left ventricular volume in children in comparison to the conventional off‐line method. Methods: Eighty consecutive patients in whom clear images were obtained by two‐dimensional echocardiography were studied. Using the Hewlett‐Packard Sonos 2500 with a 3.5 or 5.5 Mhz phased array transducer, all patients were studied in the apical four‐chamber imaging plane for automatic border detection and apical four‐chamber and two‐chamber imaging planes for manual tracing. Left ventricular end‐diastolic and end‐systolic volumes were measured and compared using the bi‐plane Simpson method. Results: Left ventricular end‐diastolic volumes obtained by automatic border detection correlated well but were slightly underestimated compared to those obtained by manual tracing (r= 0.98). Left ventricular end‐systolic volumes obtained by automatic border detection also correlated well with those obtained by manual tracing (r = 0.96). Left ventricular ejection fractions compared favorably. However, left ventricular volumes obtained using the classical Pombo M‐mode echocardiography showed poorer correlation with those obtained by manual tracing methods. Conclusions: Automatic border detection is a promising method for real‐time estimation of left ventricular volume. In patients with good endocardial tracking, automatic border detection can be used for routine studies of cardiovascular disease, even in children.
Plasma platelet‐activating factor levels in newborn infants with and without perinatal asphyxia: Is it an additional marker of perinatal asphyxia?
Authors: AkisÜ Mete , KÜLtÜRsay NilgÜN , ÇOker Isil , HÜSeyinov Afig 
Published: October 2007

Abstract
Background:
Hypoxic‐ischemic encephalopathy (HIE) is still a very important cause of neonatal mortality and morbidity. Recently platelet‐activating factor (PAF) has been accused of being responsible for the neuronal damage in hypoxic‐ischemic brain.
Methods:
Therefore, we conducted a study in newborns with perinatal asphyxia to try to show the relationship between the clinical severity and plasma PAF levels.
Results:
Mean plasma levels of 19 asphyxiated infants (997.8 ± 363.5 pg/mL) were significantly higher than that of 20 healthy infants (410.2 ± 148.6 pg/mL, P< 0.0001). Patients with clinically severe HIE had significantly higher levels of PAF (1494.2 ± 386.6 pg/mL) when compared with patients with mild HIE (815 ± 114.5 pg/mL) and with moderate HIE (828.3 ± 61.1 pg/mL). There was a significant correlation between plasma PAF concentration and arterial pH and base deficit, but no correlation with platelet and leukocyte counts.
Conclusions:
Plasma PAF levels correlating with the severity of HIE is interpreted to mean that high PAF levels may be an indicator of clinical severity and probably the poorer prognosis of patients with HIE.
Clinical survey of congenital cytomegalovirus infection in Japan
Authors: Morita Makoto , Morishima Tsuneo , Yamazaki Toshio , Chiba Syunzou , Kawana Takashi 
Published: October 2007

Abstract
Background
The clinical features of congenital cytomegalovirus (CMV) infection in countries with a higher percentage of maternal seropositivity for CMV has rarely been reported. We conducted a national survey for the first time in Japan to investigate the prevalence of congenital CMV infection.
Methods:
Questionnaires were sent in 1994 to pediatricians and obstetricians of 3398 hospitals with either more than 100 beds or a neonatal intensive care unit (NICU). The questionnaire asked for the number of new cases in 1992 and 1993, maternal status of CMV infection, diagnostic methods, clinical manifestations at birth, sequelae and prognosis.
Results.
A total of 46 cases of CMV infection were reported for the years 1992 and 1993 by 1448 hospitals; of these 39 were symptomatic. The annual incidence of symptomatic disease was 1.6 cases/100 000 live births. Major clinical manifestations such as low birthweight, hepatosplenomegaly, petechiae and intracranial calcification were noted at birth in38–50% of symptomatic neonates. Sequelae, such as hearing loss, mental retardation and motor disability developed in 71% of survivors. Thirty‐five percent of the 49 infected infants had either died or had severe disability. Several clinical manifestations at birth, including petechiae/thrombocytopenia, were significantly associated with severe sequelae or a poor prognosis.
Conclusion:
The lower frequency of clinical findings at birth may be attributed to the higher seroprevalence of pregnant women in Japan than in Europe and the United States.
Serotypes and antibacterial susceptibility of pneumococci isolated from children with infections in Ankara in relation to proposed pneumococcal vaccine coverage
Authors: Kanra Guler , Erdem Guliz , Ceyhan Mehmet , Klugman Keith P. , Vasas Avril 
Published: October 2007

Abstract
Background:
Streptococcus pneumoniae is an important pathogen for both children and adults. Although there is an effective vaccine, it is not protective under 2 years of age and common serotypes differ from one location to another.
Methods:
A total of 44 Streptococcus pneumoniae isolates were recovered from clinical specimens of children in various hospitals in Ankara, Turkey. All isolates were serotyped and evaluated for vaccine coverage and tested for antibacterial susceptibility.
Results:
There were 23 different serotypes with a predominance of serotypes 6A, 14, 19F and 23F. The nine‐valent conjugate vaccine, which has been proposed for use in young children, covers 90.4% of isolations in children < 2 years of age. This coverage decreases to 43.4% after 2 years of age. The coverage of 23‐valent vaccine is better than that of the conjugate vaccine (60.8%vs 43.4%, P < 0.05). Two relatively common and resistant types in our isolates (10A and 21) are not included in either vaccines and adding these serotypes into the 23‐valent vaccine was suggested. Although the rate of intermediately penicillin resistant strains was 31.8%, highly penicillin resistant strains were not found in the present study.
Conclusions:
The usefulness of conjugate vaccine before 2 years of age and appropriate choice of vaccine strains to include all resistant serotypes for older children in our region, is discussed. It is shown that conjugated vaccine is protective in children less than 2 years of age, but a booster with 23‐valent vaccine will be needed once they are older than 2.
Microfocal radiography in the diagnosis of childhood renal osteodystrophy
Authors: Demircin GÜLay , ÖNer Ayse , Ecin Nurhayat , BÜLbÜL Mehmet , Somuncu Ibrahim , Tunali Hulya 
Published: October 2007

Abstract Background: Renal osteodystrophy is common in children with chronic renal failure (CRF) and X‐ray is an intensive method in the diagnosis of the disease. In this study we compared microfocal radiography with conventional method for the diagnosis of renal osteodystrophy. Methods: The X‐rays of left wrists of 21 children with CRF and chronic renal insufficiency were taken by conventional and microfocal methods. Results: Both methods revealed osteopenia in all patients (100%), widening, fraying and cupping of ulnar and radial metaphysis in 10 (47.6%), osteosclerosis in three (14.2%) and pseudofracture in one (4.7%) patient. Microfocal radiography demonstrated osteosclerosis in one patient, pseudofracture in four and subperiosteal resorption in five patients that were not detected by conventional method. Conclusion: Two methods were found to be significantly different in demonstrating the changes due to rickets and hyperparathyroidism and it is concluded that microfocal radiography may be preferred in the diagnosis of childhood renal osteodystrophy.
Epidemiology, clinical characteristics and natural history of vertically transmitted human immunodeficiency virus‐1 infection in Japan
Authors: Akagi Kunihiko 
Published: October 2007

Abstract
Background
: According to the Ministry of Health and Welfare AIDS Surveillance Committee's report on vertically transmitted human immunodeficiency virus (HIV) infection, there have been eight children with acquired immune deficiency syndrome (AIDS) and 18 children with HIV infection in Japan, totalling 26 in all as of February 1997. A search of the literature fails to reveal any report that deals with many cases of vertically transmitted HIV infection in Japan.
Methods: A
primary questionnaire survey was taken of the main medical institutions across the country, followed by a secondary questionnaire survey of physicians and pediatricians who treated the disease. A clinical review was made of 19 children with vertically transmitted HIV infection (including eight AIDS children) according to the 1994 Revised Classification System for HIV Infection in Children.
Results
: The mean age at diagnosis was 14.5 months and the diagnosis was made at less than 18 months of life in approximately 70% of infected children. In the mean observation period of 16 months, six of eight AIDS children (75%), and one child of group B died. The mean period of observation for the seven dead children was 7 months, and six of seven children died by 36 months of life. The survival period after the diagnosis of AIDS was 15 months. The diagnosis of HIV infection was made based on the clinical symptoms of all children with AIDS. Of 11 children, six (45%) presented with symptoms of HIV infection by 6 months of life, and 10 of 11 children (91%) presented with symptoms by 26 months of life. The noteworthy clinical findings included hepatomegaly, splenomegaly, recurrent respiratory tract infection, lymph node swelling, oral candidiasis, hepatitis, wasting syndrome, HIV encephalopathy and severe pneumonia. The favored age for the start of complications and the magnitude of decrease in the HIV helper cell count varied with each case of complications of HIV infection (wasting syndrome, HIV encephalopathy) or opportunistic infections (cytomegalovirus infection, Mycobacterium avium complex infection). Anti‐HIV drugs (mainly zidovudine) had been used in five of eight children with AIDS and were effective in two long survivors alone.
Conclusions
: Children who are diagnosed with HIV infection, based on their clinical symptoms, carry a poor prognosis. In this respect, early diagnosis and progress in anti‐HIV therapy are necessary.
Constructing the human cerebral cortex during infancy and childhood: Types and numbers of cortical columns and numbers of neurons in such columns at different age‐points
Authors: Landing Benjamin H. , Shankle William R. , Hara J. 
Published: October 2007

AbstractThis study examines JL Corel's data on neuron numbers in 35 human cortical areas for eight age points from 0 (birth) to 72 months, to analyze cortical columns, the presumed functional units of the cortex. For each cortical area at each age point, cortical surface divided by the square root of the area's neuron number gives cross‐sectional areas with radii ranging from 180 um at birth to 250 pm at 72 months. For the prefrontal cortex at birth and 48 months, these radii are approximately 2.10 and 1.19 times the longest radial basal dendrites, suggesting similar dimensions between these two measures of column radius. The logarithm of neuron number per cortical area and age point was examined in relation to the Weber‐Fechner law governing the relationship between stimulus intensity and perception. A mechanism for this law consistent with the cortical model of Douglaset al.illustrates the importance of local circuit neurons. The cross‐sectional areas of hexagonal columns for prefrontal cortex, using as radius, the longest radial extent of layer 5 pyramidal neuron basal dendrites, ranging from 0.013 mm‐ at birth to 0.064 mm2at 48 months, suggests that functional cortical columns increase cross‐sectional area during development. These cross‐sectional areas are55–100‐fold larger at birth, and229–277‐fold larger at 48 months, than those computed from somal width in prefrontal, layer 5 pyramidal neurons. Comparison of radial extent of pyramidal basal dendrites to their soma‐to‐soma distances shows that layer 3 pyramidal basal dendrites reach 1.5 and 4.0 other pyramidal neurons at 15 and 60 months, respectively, while layer 5, extra‐large pyramidal basal dendrites reach 1.14 and 1.72 other such neurons at birth and 48 months, respectively. If such a relationship holds for other cortical areas, then the Conel data can be used to estimate basal dendrite extent, for which there currently is a paucity of data.