bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of Plasma Infusion on Plasma Apolipoprotein Levels and Lipoprotein Composition in Patients With Abetalipoproteinemia
Authors: Maesaka Hatae , Kodama Tatsuhiko , Sugai Kenji , Suwa Seizo , Itakura Hiroshige , Takaku Fumimaro 
Published: October 2007

AbstractIn order to clarify the disturbance of plasma lipoprotein metabolism and the effect of supplement therapy, changes occurring in plasma lipoprotein composition and apoprotein levels after plasma infusion were studied in two sibling patients with classical abetalipoproteinemia. The patients' plasma completely lacked both apoproteins B100 and B48. After infusion of 10 ml per kilogram of body weight of normal plasma, the plasma apoprotein B level increased to 11 and 13 mg/dl and the half‐life of apoprotein B to 10h and 6h respectively in the two brothers. In contrast, the plasma apoprotein E level decreased slightly or remained unchanged. On sodium dodecylsulfate polyacrylamide gel electrophoresis, apoprotein B appeared in the low‐density lipoprotein fraction and the content of apoprotein E in the high‐density lipoprotein fraction decreased. The mean particle size of high‐density lipoprotein decreased on analysis by high‐performance liquid chromatography. These results indicate that the catabolic rate of apoprotein B at low plasma levels (<15 mg/dl) is rapid in total apoprotein B deficiency, and suggest that plasma infusion may normalize apoprotein E distribution and metabolism.
A Case of Precocious Pseudopuberty Associated With Ovarian Follicular Cyst
Authors: Tsubouchi Kohji , Tanaka Hiroshi , Kobayashi Hiroko , Yasuda Masanori , Nakashima Yoshiki , Orii Tadao 
Published: October 2007

AbstractA case of precocious pseudopuberty associated with a follicular cyst in the ovary is described. A five‐year‐and‐month‐old Japanese girl had breast enlargement, areolar pigmentation and intermittent genital bleeding. On laparotomy, bilateral ovarian cysts were found. The left cyst (4.0 times 4.0 times 3.5 cm) was far larger than the right (1.5 times 1.3 times 1.3). The fluid in the left cyst contained a high concentration of estrogens. Therefore, the main cause of the precocious puberty was thought to be the left cyst. It was clearly detected by ultrasonography and computed tomography only when the signs of precocious puberty were remarkable and the serum estrogen level was increased; however, the right one could not be detected throughout the observation. We consider that in the case of intermittent puberty a functioning ovarian cyst can be identified more easily when the signs of precocious puberty are remarkable and the serum estrogen level is increased.
Early Phase of Juvenile IDDM–Environmental and Genetic Intervention–
Authors: Kitagawa Teruo , Fujita Hidehiro , Tsukasa Shintaro , Hanaoka Yoko , Uragami Tatsuhiko 
Published: October 2007

AbstractThe clinical appearance in the early phase of two cases of juvenile IDDM detected by urine glucose screening are described. Their postprandial blood glucose and HbAj were maintained without insulin therapy for several months below 180 mg/dl and 8.7% respectively. At three and six months after diagnosis both cases became ketoacidotic and their glucose tolerance deteriorated with a marked decrease of postprandial serum CPR level.There was no high insulin requirement with low CPR level at the time of diagnosis in 12 such patients with the above mentioned slow onset type IDDM. The insulin requirement steadily increased and serum CPR decreased from 12 months after diagnosis. The so‐called honeymoon period was not observed in this group.However, at the time of diagnosis in 24 patients with typical abrupt onset IDDM, there was a high insulin dose requirement with a low level of postprandial CPR value followed by an early decline in the insulin requirement with a temporary increase of CRP value.HLA‐DR4 or DRW9 or both were more freqently observed in patients with abrupt onset type IDDM than in slow onset type IDDM. It may probably be that genetic background as well as environmental factors affect the clinical picture in the early phase of IDDM in children.
High Risk Screening of Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency in Japan
Authors: Kishi Takamasa , Sakura Nobuo , Ito Kazuhiko , Usui Tomofusa 
Published: October 2007

AbstractSeventy‐three patients with immunodeficiency syndromes or frequent infections were screened for adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiency by the dried blood spot paper method. Among 23 patients with combined immunodeficiency, five patients with ADA deficiency were detected. In the light of the incidence of primary immunodeficiencies and financial limitation, it seems to be adequate to put screening for ADA & PNP deficiency in force for all infants with signs of an immune defect.
Prediction of Starting Dose for Conventional Insulin Treatment (Using the Practical Closed‐Loop System)
Authors: Miyamoto Shigeki , Sasaki Nozomu , Nakajima Hironori 
Published: October 2007

AbstractThis study was undertaken in 10 newly diagnosed diabetic children to assess the usefulness of the practical closed‐loop system in determining insulin doses in conventional treatment. During application of this system of continuous intravenous insulin infusion, the infusion dose was changed according to the hourly monitored blood glucose values. Conventional insulin treatment was started, based on the daily insulin profile obtained by the practical close‐loop system. This consisted of two daily injections of a mixture of short‐ and intermediate‐acting insulins. There was no significant difference in mean blood glucose, M‐value or mean amplitude of glycemic excursions between the two treatments.Compared with the previous insulin regimen in which conventional insulin treatment was performed following the initial treatment for diabetic ketoacidosis without this practical closed‐loop system, good glycemic control was obtained in a shorter period by using this system.Thus, the practical closed‐loop system could be helpful in predicting the starting insulin dose for conventional insulin treatment.
Clinical and Postmortem Findings of Two Cases With Karyotype: 48, XXX, +18
Authors: Sonoda Tohru , Ohdo Shozo , Madokoro Harumichi , Akimoto Kaoru , Ohba Ken‐ichi 
Published: October 2007

AbstractClinical and postmortem findings of two cases with karyotype: 48, XXX, +18 are presented. In both patients the usual characteristics of trisomy 18 were found. Case 1 was complicated with congenital esophageal atresia, hypoplastic left auricle with external auditory canal atresia, left congenital dislocation of hip, and left club foot. The patient died on the 9th day after birth. Autopsy revealed mitral atresia, aortic stenosis, ventricular septal defect, patent ductus arteriosus, coarctation of aorta, bicuspid aortic and pulmonary valves, patent foramen ovale, and congenital esophageal atresia (type C). Case 2 died on the 8th day after birth. Postmortem examination revealed ventricular septal defect, but there was no other noteworthy malformation. Dermatoglyphic findings were more prominent on the right hand than the left. The severity of malformations may be biased to either the right or the left side.
Kabuki Makeup Syndrome Associated With Megaureter
Authors: Iwama Yoshihiko , Sugiyama Setsuo , Kaiga Kazuhiro , Eguchi Mitsuoki , Furukawa Toshiharu 
Published: October 2007

AbstractA case of Kabuki makeup syndrome associated with megaureter and L‐shaped kidneys is described. This is the first report of Kabuki makeup syndrome with urinary tract anomaly.
Association of Severe Microcephaly, Short Palpebral Fissures, Micrognathia, Growth Retardation and Early Death: A New Syndrome
Authors: Madokoro Harumichi , Ohdo Shozo , Sonoda Tohru , Ohba Kenichi , Hayakawa Kunio 
Published: October 2007

AbstractFour siblings presenting a combination of severe microcephaly, short and laterally downward slanting palpebral fissures, hypertelorism, micrognathia, and growth retardation are reported. The proband had congenital heart disease complicating these characteristic symptoms. The parents were not consanguineous. The karyotypes of the proband and parents were normal. The faces of three brothers of the proband were very much like that of the proband, but tvjo of them had cleft palates. Although it was confirmed that one of the three brothers did not have congenital heart disease, its presence in the other two could not be ascertained. All three older brothers died within one month after birth.
Growth and Maturation in the Male Genitalia From Birth to Adolescence I. Change of Testicular Volume
Authors: Fujieda Kenji , Matsuura Nobuo 
Published: October 2007

AbstractTesticular volumes of Japanese males from birth to adolescence were studied in cross‐sectional series. Maturational events of testicular volumes occurred in the two periods during early infancy and adolescence. The testicular volumes during the first three months of life were slightly greater than later in infancy. Thereafter there was very little increase in testicular volumes from the age 1 to 10 years. After 11 years there was a sudden increase in size. The mean volumes increased from 6.5 cm3 at the age of 11 years to 36.7 cm3 at 14 years. The largest increment was observed between 13 and 14 years of age and between pubic hair stages I and II. Reaching testicular volumes of 6.5 cm3 was found to be a landmark of the earliest sign of puberty. The age at which pubertal development was initiated varied between the ninth and the fourteenth year of life.
Developmental Disorders in Histidinemia—Follow‐up Study of Language Development in Histidinemia —
Authors: Ishikawa Michiko 
Published: October 2007

AbstractTo investigate the relationship between histidinemia and developmental disorders, a longitudinal study was performed in 26 patients. Neuropsychological and psychological testing was carried out. The results indicate the range of DQ and IQ for these subjects, and suggest an autistic tendency and poor language/ visual abilities. Abnormal EEG patterns were observed.The relationship between histidinemia and brain dysfunction is descussed.
Auditory Brainstem Response in Leigh's Syndrome
Authors: Kaga Makiko , Naitoh Haruko , Nihei Kenji 
Published: October 2007

AbstractLeigh's syndrome is a clinically heterogeneous disorder with a variety of biochemical bases. It is classified as one type of the mitochondrial encepha‐lomyopathies (MEMs). Serial auditory brainstem responses (ABRs) in eight patients with clinically diagnosed Leigh's syndrome are reported. Abnormalities of ABRs were detected in the early stages of the disease in all patients. Severely abnormal wave configuration associated with prolonged wave latency was detected in patients with apnea and/or other symptomatology involving the brainstem. Patients with cortical involvement had markedly abnormal ABRs in which only waves I and/or V were present. In those patients whose clinical symptoms were less severe, the ABR was mildly abnormal. Changes in the ABR did not consistently reflect clinical exacerbations and remissions. ABRs were useful in the classification of Leigh's syndrome and in judging the severity of the disease process. ABRs can be used as a supplementary diagnostic procedure in Leigh's syndrome.
Correlative Study of Radioreceptor Assay and Radioimmunoassay of Serum Growth Hormone (GH): Screening for Bioinactive GH in Short Statures
Authors: Igarashi Noboru , Minami Satoshi , Kajiwara Sohei , Sato Tamotsu 
Published: October 2007

AbstractThe radioreceptor assay (RRA) of human growth hormone (hGH) was developed using liver microsomal fraction from estrogen‐treated female rats. The method allows measurement of physiological amounts of hGH (1.5–100 ng/ml) in unfractionated serum. Cross‐reactivity with human prolactin was 4.6%. Native hGH, recombinant methionyl‐hGH, and methionine‐free hGH showed a similiar binding to the receptors. Simultaneous determinations of serum hGH concentration with the RRA and radioimmunoassay (RIA) were performed in samples after the administration of GH‐releasing hormone (GRH) (1—44) from 15 normal short children and 25 patients with hGH deficiency. Overall RRA/RIA ratio in 146 samples was 0.84 ± 0.31 (SD). Of 15 normal short children, one showed a significantly reduced RRA/RIA ratio of 0.13 ± 0.03 in comparison with that of the other (0.70 ± 0.40) (p<0.001). His growth rate was accelerated by exogenous hGH administration, indicating that he secreted a biologically inactive hGH. The present RRA provides a useful method for screening bioinactive hGH in a large number of serum samples from children with short stature.
Classification of Type 1 and Type 2 Diabetes Mellitus from Studies of ICA, HLA and Insulin Secretory Capacity
Authors: Matsuura Nobuo , Fujieda Kenji , Mikami Yuhei , Fujita Hiroko , Harada Shohei , Wakisaka Akemi , Shinjyo Takamichi , Hirata Yukimasa 
Published: October 2007

AbstractWe studied ICA, HLA and insulin secretory capacity in 87 children with positive urinary screening and more than 2 points in the oral glucose tolerance test in order to establish criteria by which they could be classified into type 1 or type 2 diabetes mellitus. Fifty‐five non‐obese, ketosis‐prone insulin dependent diabetic children were used as controls for type 1 diabetes mellitus. Our conclusions were as follows:1. Type 1 diabetics were non‐obese (on insulin therapy), ICA positive, ketosis‐prone, had an insulin secretory capacity (Z IRI) of less than 100/nU/ml, and most of them possessed HLA‐Bw54‐DR4 or DRw9, DRw53 but did not possess Bw52‐DR2 haplotype.2. In the patients who were treated by dietary regimens alone for certain periods, however, insulin secretory capacities gradually deteriorated and they finally became insulin dependent. The children of this group who were not obese during insulin therapy and possessed an HLA haplotype identical to that in type 1 diabetes, regardless of ICA, might be classified as having slowly progressive type 1 diabetes.3. The major difference between type 1 and slowly progressive type 1 diabetes was a family history of diabetes. Genetic factors might modify the clinical course of type 1 diabetes mellitus.4. If the sensitivity of ICA or related autoantibodies to islet cells can be detected more readily, it should become easier to distinguish between type 1 and 2 diabetes.
Intensive Insulin Therapy—Effects on M‐Value and Frequency of Hypoglycemia—
Authors: Tanae Ayako , Hashimoto Nobuko , Kagawa Jiro , Hibi Itsuro 
Published: October 2007

AbstractThe frequency of hypoglycemia and M‐values were measured on 11 intensively treated insulin dependent diabetic children separated into three groups of once‐daily, twice‐daily and multiple daily insulin injection regimens. Despite a similar quality of blood glucose control (Hb Al (%): 10.0 ± 1.5, 10.4 ± 2.6, 10.6 ± 2.5) in each of the above regimens, the M‐values were 26.2 ± 11.7 in the once‐daily, 34.9 ± 17.9 in the twice‐daily and 47.7 ± 14.7 in the multiple daily injection regimen (M ± SD), respectively. A mild biochemical hypoglycemia was found more often in the patients under treatment with twice‐daily and multiple daily injections. Further, though the mean blood glucose profiles in the patients treated with once‐daily and multiple daily injections were very good, marked hypoglycemic blood glucose levels were seen prior to meals, especially before lunch.
Use of a Computer Program in the Treatment and Education of Young Diabetics
Authors: Laron Z. , Faiman G. , Flexer Z. , Rapaport M. 
Published: October 2007

AbstractThe goal of diabetes therapy is to achieve normal blood glucose (BG) levels to prevent acute and chronic complications. The ascertainment of BG during the day is done using glucometers. There are three major impediments: a) compliance to test for long periods; b) overview of results; c) cost of meter and chemistrips. We have developed systems which help overcome the problem. Treatment by a multidisciplinary team (MDT) including social workers, psychologist and education nurse have increased motivation and the patients perform a mean (± SD) of 2.8 (±2.3) tests/day even in the second year. The development of a computer system (DIACON) enabled a rapid accurate statistical analysis of data on self blood glucose monitoring (SBGM), food intake and insulin dose. The patient feeds the computer the SBGM data and receives histograms and tables presenting the mean ± SD of BG levels for the requested periods. The dietician feeds the dietary data which provides a break‐up into CHO, fats and proteins as well as the distribution in percentage of CHO intake during the day. The physician formulates his recommendation in accordance with data analysis.
Application of Computer Programs in the Management of Diabetic Children
Authors: Niihira Shizuhiro , Inada Hiroshi , Tei Seiko , Aono Mayumi , Aono Shigeo , Isshiki Gen 
Published: October 2007

AbstractMicrocomputers have been used in our hospital for the past five years to summarize data from patients and to remind us to carry out routine tests. Recently, we have shown computer data on the screen to patients; this helps us to explain and discuss the monitoring of their condition with them.Unlike some other systems, general data as well as data on self‐monitored blood glucose levels are recorded in our computer system. The data consist of five categories: personal profile, treatment, etiological research, indices of control and data for checking complications.The analysis and evaluation of our system are done by the modes of display, statistical calculations, early detection of complications and graphics.The system is compatible with input from a keyboard, optical character readers and interface to a glucose meter with a memory.
Development of Histidinemic Patients: Follow‐Up Study of Five Cases with Neuropsychological Symptoms
Authors: Ishikawa Michiko , Saito Hisako , Morishita Hideko , Ito Tamiko , Kato Taiji , Wada Yoshiro 
Published: October 2007

AbstractWe described the general clinical course of histidinemia in a previous report. Here, we report on five patients having particular problems in the developmental aspects.Case 1 was found to have histidinemia at the age of 3 years during a clinical survey of the nature of his neurological symptoms. He has been followed up for seven years. He developed poorly in verbal expression.Case II was detected by newborn mass screening. The psychomotor development was apparently normal, but in detail, the development of fine motor and cognitive function was insufficient during the follow‐up period. Consequently, a developmental lag in visual perception, visual motor perception and spatial perception were noted in this case.Cases III, IV and V were each 3 years old, and were also diagnosed as histidinemic by newborn mass screening test; scanty attachment and various kinds of autistic behavior were noted during their clinical course.These five cases were clinically different from other non‐symptomatic patients with histidinemia.It is important to study the pathogenesis of such psychomotor abnormalities from the viewpoint of psychological care for the children.
Exercise‐Induced Bronchospasm in the XXIII Summer Olympic Games
Authors: Pierson William E. , Voy Robert O. 
Published: October 2007

AbstractThe U.S. Olympic Team demonstrated a significant prevalence of E.I.B. among world‐class athletes (15.1). Nearly all sports were involved but endurance events seemed to have the highest prevalence of team members with E.I.B. Resting pulmonary function studies were poor discriminators of athletes affected with E.I.B. The 67 athletes of the 597 member team were responsible for winning 41 Olympic medals including 15 golds and 21 silvers, clearly demonstrating their ability to compete and succeed in world‐class competitive events. These results should send a strong message to young people that they can strive to excel in sports with proper medication and management.
Part 1. Outcome for Small‐for‐Gestational‐Age Infants with Very Low Birth Weight (<1,500g)
Authors: Yamaguchi Kiyoko , Hara Hitoshi , Nishida Hiroshi , Yamada Takako , Arai Toshihiko , Nose Koichiro , Nakabayashi Masao , Takeda Yoshihiko , Sakamoto Shouichi , Fukuyama Yukio 
Published: October 2007

AbstractMortality and morbidity of small‐for‐gestational‐age (SGA) infants with very low birth weight (VLBW) (less than 1,500 g at birth) are reported. Survival rate of 47 VLBW infants was 92%, with no statistical difference between SGA and appropriate‐for‐gestational‐age (AGA) groups. Thirty‐nine VLBW infants were watched in our follow‐up clinic for more than seven months. Overall incidence of major neurologic defects (cerebral palsy, epilepsy or psychomotor retardation) was 12.8%. Handicap was significantly different for SGA and AGA groups, that is, four out of 12 SGA infants (33%), compared with one out of 27 AGA infants (3.3%). Major neurologic defects in VLBW infants were strongly associated with intrauterine growth retardation (IUGR) related to toxemia of pregnancy with onset in the 2nd trimester. Although most of the VLBW SGA infants were IUGR due to noxious intrauterine environments, head sizes of all, with one exception, were growth‐restricted in utero. If IUGR, especially retardation of head growth, is detected in utero during the 2nd trimester, discussion between obstetrician and neonatologist about optimal neurological outcome for the infant is mandatory.
Effect of Single Dose Intravenous Animophylline in Asthma
Authors: Pyun Bok‐Yang , Odajima Yasuhei , Kishida Masaru , Obata Toshihiko , Nagakura Toshikazu , Likura Yoji 
Published: October 2007

AbstractFifty‐five children with acute asthma were studied to evaluate the relationship between pulmonary function (improvement in forced expiratory volume in one second, FEVj, and maximum flow at 50% vital capacity, V50) and serum theophylline concentration after intravenous aminophylline.Serum theophylline concentrations and pulmonary function were measured before and after aminophylline therapy.In our study, there was significant improvement in pulmonary function in patients whose baseline serum theophylline concentration was under 5 ng per ml, when their post‐infusion levels reached 10 to 15 μg per ml. Significant improvement in pulmonary function was noted in subjects whose baseline FEV1 was under 50% of the predicted value when their post‐infusion serum theophylline levels rose to 10 to 15 μg per ml.
Retinoblastoma and Osteosarcoma: The Prototypic Cancer Family
Authors: Hansen Marc F. , Cavenee Webster K. 
Published: October 2007

AbstractMutant alleles of the RBI locus on human chromosome 13q 14 have previously been linked to the development of retinoblastoma, a tumor of embryonal neural retina. In the bilateral form of the disease, inheritance of a germinal mutation at this locus predisposes each retinal cell to a subsequent second somatic event which results in the formation of the retinoblastoma tumor. Spontaneous unilateral tumor occurrence appears to result from two sequential somatic events. Survivors of the bilateral form of this eye tumor are at substantially increased risk for subsequent development of second primary cancers, particularly osteosarcoma, a bone cancer. Conversely, survivors of unilateral retinoblastoma exhibit the same likelihood of development of osteosarcoma as the general population.In order to determine whether osteosarcoma and retinoblastoma share a common pathogenetic mechanism, we determined restriction fragment length alleles at loci on chromosome 13 in DNA from constitutional tissues of bilaterally affected retinoblastoma patients as well as from their osteosarcoma tumors. These analyses indicated that the loss of constitutional heterozygosity in the tumors occurred specifically for chromosome 13 and appeared to involve the same chromosomal region as that previously identified in retinoblastoma tumors. Similarly, specific loss of constitutional chromosome 13 heterozygosity was also apparent in sporadic osteosarcomas. These results suggest that both diseases are due to the mitotic unmasking of pleitropic recessive mutant alleles at the RBI locus, and that the clinical occurrence of mixed cancer families such as these may be due to the differential expression of a single recessive mutation.