bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term effects of bone marrow transplantation for inborn errors of metabolism: A study of four patients with lysosomal storage diseases
Authors: IMAIZUMI MASUE , GUSHI KAZUO , KUROBANE IKUO , INOUE SHIGEO , SUZUKI JUN , KOIZUMI YOSHITSUGU , SUZUKI HOSHIROU , SATO ATSUSHI , GOTOH YOU‐ICHI , HAGINOYA KAZUHIRO , KIKUCHI MASAHIRO , AIKAWA JUN‐ICHIROU , NARISAWA KUNIAKI , OHUNUMA AKIRA , OHMURA KIYOSHI , SHINTANI HARUO , TANAKA AKEMI , TADA KEIYA 
Published: January 2011

AbstractLong‐term effects of bone marrow transplantation (BMT) were evaluated in patients with I‐cell disease, metachromatic leukodystrophy (MLD), Maroteaux‐Lamy syndrome or Hunter syndrome (mild form). Donors were human leukocyte antigen (HLA)‐matched siblings, and the follow‐up periods were 24–71 months after BMT. The enzyme activities were increased in leukocytes, plasma or liver tissues compared with pre‐BMT levels. A patient with I‐cell disease acquired development of 4–8 month old infants and showed no further progression in cardiac dysfunctions. A patient with MLD showed a decelerated disease progression and an improved peripheral neuropathy, but progressive brain atrophy was not prevented. Patients with Maroteaux‐Lamy syndrome or Hunter syndrome showed improvements in hepatomegaly, joint contractures, short stature and tight skin, and this greatly increased their quality of life. These results indicated that the long‐term therapeutic effects achieved by BMT were subject to multiple factors including biochemical improvements, a reversibility of affected tissues, or advanced states of disease and central nervous system impairments in inborn errors of metabolism.
Changes in hypothalamic‐pituitary function following bone marrow transplantation in children
Authors: KUBOTA CHIDORI , SHINOHARA OSAMU , HINOHARA TOMOYUKI , HATTORI KINYA , YABE HIROMASA , YABE MIHARU , KATO SHUNICHI , TAKAKURA IWAO 
Published: January 2011

AbstractPatients who undergo bone marrow transplantation (BMT) frequently experience impaired pituitary function, but precise assessment using repeated provocative tests has not been described. We studied 32 children (16 boys) who had BMT after receiving preparative irradiation. Assessment of pituitary function was performed by infusing insulin, luteinizing hormone‐releasing hormone (LHRH), and thyrotropin‐releasing hormone (TRH) on several occasions at various intervals during the follow‐up period.Serum free thyroxine (FT4) and thyrotropin (TSH) levels tended to be low during the early period following BMT. Serum FT4 concentrations reverted to the low‐normal range 1 year after transplant, and eight of 29 patients had subnormal and delayed TSH response to TRH consecutively. No children showed overt hypothyroidism. Basal and peak serum gonadotropin levels in response to LHRH were elevated in the patients who had received transplant around the time of puberty. Leydig cell function assessed by human chorionic gonadotropin test was normal. Three girls experienced menarche, and one male patient fathered a normal boy 7 years after BMT. Pituitary‐adrenal function and prolactin secretion were not affected.A high incidence of transient hypothyroidism which did not require replacement therapy and gonadal failure among pubertal children were observed. Shielding of gonads should be attempted, if possible, at the time of preparative irradiation to prevent resultant hypogonadism.
Cytotoxicity against Varicella zoster virus infected targets in children with acute leukemia
Authors: IHARA TOSHIAKI , OITANI KAICHI , TORIGOE SADAYOSHI , KITAMURA KENJI , ITO MASAHIRO , KAMIYA HITOSHI , SAKURAI MINORU 
Published: January 2011

AbstractTo eliminate the role of natural killer (NK), antibody‐dependent cell‐mediated cytotoxicity (ADCC), and polymorphonuclear leukocyte (PMN)‐mediated cytotoxicity in Varicella zoster virus (VZV) infections, peripheral blood mononuclear cell (PBMC)‐mediated NK and ADCC, and phorbol myristate acetate‐stimulated PMN‐mediated cytotoxicity against VZV‐infected targets were studied in children with leukemia.Natural killer and PMN‐mediated cytotoxic activity was depressed for 6 months after complete remission and ADCC activity was depressed for 1 year after complete remission. The magnitude of three cytotoxic mechanisms in leukemic children gradually increased while they continued in complete remission.These results suggested that decreased cytotoxic activities of PBMC and PMN might contribute to serious VZV infections and susceptibility to herpes zoster in leukemic children.
Gestational age assessment in Japanese low birthweight infants
Authors: KOGA YASUTSUGU , FUJIEDA KENJI , MATSUMOTO YOSHINORI , FUJIMOTO SEIICHIRO , HATTORI TSUKASA , HAGISAWA MASAHIRO , TAHARA YASUO , NAGASHIMA TETSURO , MIZUMOTO MASAHIKO 
Published: January 2011

AbstractWe evaluated the validity of the Ballard scoring system for assessing gestational age in Japanese low birthweight infants. Infants included in this study were 116 neonates who were admitted to seven hospitals in Hokkaido. Gestational ages of all infants were prenatally established by ultrasonographic measurement of the crown‐rump length performed between 8 and 12 weeks of gestation (clinical age). Of these, 74 infants were appropriate for gestational age (AGA) and the remaining were small for gestational age (SGA). Mean birthweight was 1703 g and 34% (39/116) were <1500 g. The correlation coefficient for the total population was 0.93(P <0.001). Although mean Ballard age tended to overestimate clinical age, mean differences between Ballard age and clinical age did not exceed 0.6 weeks. Agreement within 2 weeks among all infants was 86.2%. Percentages of agreement within 2 weeks did not differ to a statistically significant degree between AGA and SGA. These results indicate that the Ballard method is of value in assessing gestational age in Japanese low birthweight infants.
Biacromical and biiliac length and chest circumference measurements of male Turkish adolescents according to biological maturation
Authors: BÜYÜKGEBIZ A. , EROGLU Y. , KARAMAN Ö , KINIK E. 
Published: January 2011

AbstractAdolescence is a period which is characterized by rapid physical growth and development of secondary sex characteristics. Male adolescence begins at 11–12 years of age and lasts ∼5 years. During this interval, there is a growth spurt period which is observed any time between 11 and 16 years of age, lasting 2–3 years. Some authors claim that a male may have nearly 20–25% of his adult height and 50% of his adult weight during adolescence.1–3 When evaluating the maturational aspects of adolescence, it is essential to consider bone age (BA) as well as chronological age (CA). Bone age is the mean CA at which the skeletal maturation is normally attained. It is influenced by genetic, endocrinological and nutritional factors.4–6 An adolescent may not demonstrate the expected maturational steps if his BA is retarded. This report examines the relationship between CA, biological maturation and some anthropometrical measurements.
Acute childhood leukemia in a patient with hemophilia: First report in Japan
Authors: KAWAKAMI KIYOSHI , TAKEZAKI TOSHIRO , NAKAZONO SHIN‐ICHI , KITAHARA TAKUMA , IKARIMOTO NAOAKI , TANAKA YUJI , MIYATA KOICHIRO , YOSHIOKA AKIRA 
Published: January 2011

AbstractThis study reports an unusual case of acute leukemia which was diagnosed as hemophilia A on initial admission for leukemia.A 3 year old boy was admitted to Kagoshima University Hospital with anemia. He was diagnosed as acute lymphoblastic leukemia. At the same time he was revealed to have severe hemophilia A− without any previous episodes of severe bleeding tendency or family history of this disease. The laboratory investigation showed his mother to be a carrier of hemophilia A.Although there are many cases of hemophilia which have developed malignant tumors, most of them were caused by association with human immunodeficiency virus (HIV) infection. Only five cases with coexistence of leukemia and hemophilia without HIV infection have been reported and the present case is the first one in Japan. At this stage, hemophiliacs are not necessarily regarded to be a population at risk for the development of leukemia. Furthermore, no particular subtype of leukemia was characterized among these patients in the literature.
Hemothorax due to hemorrhagic disease of the newborn
Authors: KAUR PYAR , TAN KAH KEE 
Published: January 2011

AbstractA three day old male, term infant with hemothorax due to hemorrhagic disease of the newborn was treated successfully with vitamin K and thoracocentesis. Exclusive breast feeding and absence of vitamin K prophylaxis were important diagnostic clues, although hemothorax as a sole manifestation of hemorrhagic disease of the newborn is rare. This case highlighted the good prognosis of an uncommon complication when prompt diagnosis and appropriate treatment are instituted. The importance of vitamin K prophylaxis to all newborns is emphasized.
Helicobacter pylori colonization in children with gastritis and peptic ulcer. I. The colonization rate and effects of colonization on mucin content and mucosal inflammation in the antrum
Authors: YAMASHIRO Y. , OGUCHI S. , OTSUKA Y. , NAGATA S. , SHIOYA T. , SHIMIZU T. 
Published: January 2011

AbstractThe incidence of Helicobacter pylori infection and effects of H. pylori colonization on mucin content and mucosal inflammation of the antral mucosa were studied quantitatively in 55 Japanese children with suspected gastritis and peptic ulcers (aged 6–16 years, mean 12.3 years). H. pylori was detected, using Warthin‐Starry stain, in nine of the 22 cases (41%) with antral histological gastritis, but in none of the 33 histologically normal cases. Five out of seven duodenal ulcer cases showed histological gastritis, and all five cases were H. pylori positive. Severity of gastritis, evaluated by means of gastritis score, was significantly higher in H. pylori positive gastritis cases than in H. pylori negative gastritis cases (5.4 ± 1.0 vs 3.1 ± 0.3, P< 0.001). A PAS‐AB index, a proportion of the periodic acid Schiff‐alcian blue (PAS‐AB) positive mucin area to the total epithelial area, was significantly lower in H. pylori positive cases than in H. pylori negative cases, irrespective of the existence of histological gastritis (23.5±7.6% vs 40.4±5.5%, 43.5±4.2%, P< 0.001). The decreased mucin content of gastric mucosa is likely to lead to weakening of an important defensive factor of gastric mucosa. These findings suggest that H. pylori plays an important role in gastritis and peptic ulcers in children, especially in cases with duodenal ulcer.
Helicobacter pylori colonization in children with gastritis and peptic ulcer. II. Ultrastructural change of the gastric mucosa
Authors: YAMASHIRO Y. , OGUCHI S. , OTSUKA Y. , NAGATA S. , SHIOYA T. , SHIMIZU T. 
Published: January 2011

AbstractTo evaluate the role of Helicobacter pylori in the pathogenesis of gastritis and peptic ulcer in children, ultrastructural changes of the gastric mucosa with H. pylori colonization were studied in two pediatric patients with duodenal ulcers.The study demonstrated that H. pylori: (i) colonized the mucous layer covering normal gastric epithelium; (ii) lay atop short, irregular microvilli and at the intercellular junctions of damaged cells; and (iii) adhered firmly by specific junction zone (firm connection) and loosely by filamentous appendages to the epithelial surfaces of cells which lacked evidence of a protective mucous layer. The ultrastructural changes, which become progressively worse from patterns (i) to (iii) mentioned above, suggest that these patterns represent distinct and successive stages of the infection. These findings, therefore, lend support to the notion that H. pylori infection is quite common and may relate to the pathogenesis of gastritis and peptic ulcer in children as well as in adults.
Clinical variability of congenital myopathy with type I fiber atrophy: A long‐term observation of three cases
Authors: SHISHIKURA KEIKO , OSAWA MAKIKO , SUZUKI HARUKO , HIRAYAMA YOSHITO , ARAI YUMI , SUMIDA SAWAKO , TAKAHASHI RIEKO , FUKUYAMA YUKIO 
Published: January 2011

AbstractThe variable clinical courses of three cases of congenital fiber type disproportion (CFTD) over a period of 10 years are presented. All showed improvement in early childhood, but subsequently, varying degrees of deterioration were noted: specifically, marked deterioration in case 2 and decreased muscle strength in case 3. Maximal motor function levels were attained differently among the cases. Histological findings included type 1 fiber hypotrophy and increased internal nuclei in common in all cases. Fine structural changes, such as patchy areas of myofibrillar degeneration, were noted in cases 1 and 2 (second biopsy), and cytoplasmic bodies were seen in case 2 (second biopsy). Myotubes were noted in case 3. The degree of cyto‐architectural changes did not correlate with clinical severity. The heterogeneity of CFTD is also discussed.
Care for bereaved families
Authors: FUKUI STEPHANIE 
Published: January 2011

AbstractBecause of support groups and studies on death, a new type of care for bereaved parents has been crafted over the past several decades. Support groups and medical professionals are key to this type of care. For medical professionals this job is difficult at times since individual needs may differ. But by following some basic guidelines, medical professionals can help the parents start the recovery process for they are the ones in contact with the parents at the time of death. The guidelines include giving the families complete medical information, reassurance and a chance to talk. Also, importantly, this care includes treating the baby and family with dignity and acknowledging the magnitude of the loss. In Japan most bereaved parents still go completely unassisted at the time of their baby's death. Formation of support groups and a greater awareness by medical professionals on how to care for these families will solve this problem.
Increased granulocyte‐colony stimulating factor (G‐CSF) levels in neonates with perinatal complications
Authors: IKENO KAZUHIDE 
Published: January 2011

AbstractWe have investigated cord blood granulocyte‐colony stimulating factor (G‐CSF) levels in neonates with or without neonatal complications to examine some changes in the G‐CSF levels in the neonatal period. The G‐CSF levels were measured in 613 neonates by enzyme immunoassay. The results showed that G‐CSF levels were distributed in a broad range from the level under the cutting point (31 pg/mL) to over the measurable range (2000 pg/mL). Normal neonates without perinatal complications were 322. In normal neonates, the G‐CSF level correlated with the gestational age (r = 0.255, P < 0.01) and cord blood leukocyte count (r = 0.210, P < 0.01). The G‐CSF values were under 100 pg/mL in 95% of normal neonates with a median of 35.0 pg/mL. We divided the neonates into two groups: a lower (< 100 pg/mL) and a higher (≥ 100 pg/mL), based on the G‐CSF level. The percentage of neonates with higher G‐CSF levels (≥ 100 pg/mL) was greater in neonates with perinatal complications than in normal neonates (< 100 pg/mL; P < 0.01). Compared with normal neonates, the percentages of the higher group were greater in neonates with infections (P < 0.01), fetal distress (P < 0.01), premature rupture of membranes (P < 0.05), neonatal asphyxia (P < 0.01) and meconium staining of amniotic fluid (P < 0.01). Neonates with higher G‐CSF levels had larger numbers of peripheral leukocytes (P < 0.05) than did those with the lower G‐CSF levels. Counts of leukocytes were parallel with those of neutrophils. In conclusion, cord G‐CSF levels in neonates can be increased in response to, not only infections, but also to such stress states as fetal distress, premature rupture of membranes, neonatal asphyxia and meconium staining of the amniotic fluid, which may result in increased numbers of neutrophils.
A girl having congenital chloride diarrhea treated with spironolactone for seven years
Authors: ASANO TAKESHI , MARUYAMA KAZUO , JINBO OSAMU , TSUMURA HARUO , FURUYA FUJIO , MORITA TOSHISADA , HIRAYAMA TSUNEO 
Published: January 2011

AbstractWe report on a girl having congenital chloride diarrhea (CCD) who has been followed for 7 years and 6 months sequentially. Dilated intestinal loops, marked enlargement of the abdominal circumference of the fetus and hydramnios were noted by ultrasound examination at 31 weeks of gestation. After delivery by cesarean section for hydramnios, she excreted profuse watery yellow green stools with marked abdominal distension. At 4 months of age, hypochloremia, hyponatremia and a high concentration of chloride in the stool were identified. She was diagnosed as having CCD. Because it was difficult to administer a large volume of potassium chloride (KCl), and sodium chloride (NaCl), we decided to administer spironolactone. After administration of spironolactone, we could generate correct serum electrolytes using less amounts of KCl. At 7 years and 6 months of age, her body size was within normal limits and her intellectual, mental and physical development had been normal. In spite of normal serum electrolytes, blood pH and the presence of chloriduria, secondary hyperaldosteronism was noted. We consider that spironolactone may be useful to decrease the amount of KCl administration in the neonatal period, but frequent measurements of renin, angiotensin and aldosterone would be necessary for adequate control in CCD cases.
A Ro/SS‐A auto‐antibody positive mother's infant revealed congenital complete atrioventricular block, followed by insulin dependent diabetes mellitus and multiple organ failure
Authors: FUKAZAWA RYUJI , SEKI TAKASHI , KAMISAGO MITSUHIRO , WATANABE MASANORI , OGAWA SHUNICHI , YUGE KUNIO , HIRAYAMA TSUNEO 
Published: January 2011

AbstractWe experienced a congenital complete atrioventricular block infant who was born from a Ro/SS‐A antibody positive mother. Ro/SS‐A antibody was also found in this baby which was presumed to be mediated by the maternal placenta. Temporary cardiac pacing was required at birth and pacemaker implantation was performed at 9 months. At 11 months of age, the baby fell into shock and experienced multiple organ failure because of diabetes mellitus‐induced coma. The association between congenital complete heart block and the Ro/SS‐A antibody is well known. However, the accompaniment of insulin‐dependent diabetes mellitus has not been reported previously. As the Ro/SS‐A antigen appears in the cytoplasm of many tissues, the possibility of an association between Ro/SS‐A antibody and diabetes mellitus is difficult to deny. We report this rare case to draw attention to the possibility that babies who are born from an Ro/SS‐A antibody positive mother may develop diabetes mellitus as well as congenital complete heart block.
Possible hereditary Y‐chromosome instability
Authors: ZENIYA ETSUKO , IINUMA KAZUSO , KATO MIZUKI 
Published: January 2011

AbstractA 9 year old boy, born to a phenotypically normal, non‐consanguineous couple was referred for clinical examination due to radio‐ulnar synostosis. We made cytogenetic analyses to investigate the genotype‐phenotype correlation. Chromosomal studies on the boy and his father revealed a very small Y chromosome in both cases, probably due to loss of the heterochromatic long arm segment. Repeated cytogenetic analysis of the boy was made, using QFQ, CBG, DA/DAPI and fluorescence in situ hybridization (FISH) methods with DYZ1 and DYZ3 probes. The results showed a likely mosaicism of cell lines with either a small Y or a normal Y found in the boy. The small Y appeared to be composed of double centromeric regions, without the heterochromatic segment of the long arm of the Y chromosome. The father refused re‐analysis. These findings indicate an inherent instability of the Y chromosome resulting in a familial small Y. The radio‐ulnar synostosis may be associated with excessive Y short arms.
Human parvovirus B19‐induced aplastic crisis in iron deficiency anemia
Authors: KUDOH TOORU , YOTO YUKO , SUZUKI NOBUHIRO , ODA TAKANORI , KATOH SHIZUE , CHIBA SHUNZO , MATSUNAGA YASUKO 
Published: January 2011

AbstractHuman parvovirus B19 (HPVB19) infects and replicates in erythroid progenitor cells. Its specific cytotoxic effect on these cells results in aplastic crises in patients with congenital hemolytic anemias. Aplastic crisis due to HPVB19 infection in a healthy girl revealed occult iron deficiency anemia. The condition is characterized by a high serum iron level in the aplastic phase and rapid recovery after administration of iron. Temporary HPVB19‐induced red blood cell aplasia could occur in patients with other anemias, particularly those with non‐inherited form of hemolysis.
Effects of human neonatal serum on DNA synthesis in suckling and adult rat hepatocytes in primary culture
Authors: KOHNO YUMI , FUKUNAGA MAKI , SHIRAKI KAZUO , MURA TETSUO 
Published: January 2011

AbstractThe effect of human neonatal serum on DNA synthesis in suckling and adult rat hepatocytes in primary culture was investigated to characterize growth regulating factors of the liver in neonates and to confirm whether the stimulatory factor is human hepatocyte growth factor (hHGF). Neonatal serum stimulated DNA synthesis of both adult and suckling rat hepatocytes. The stimulatory effect was dose‐dependent up to 20% in volume. The molecular weight of the stimulatory substance in neonatal serum was between 12 500 and 25 000, as estimated by gel filtration. Its activity was stable after heating at 56°C for 20 min, but was lost after heating at 90°C for 30 s, and easily passed through S‐ or heparin‐Sepharose columns. The concentration of hHGF quantified by ELISA was too low to stimulate DNA synthesis in vitro. Biological and biochemical properties of the growth stimulatory activity in neonatal serum differed from that of hHGF. The presence of other growth factors in human neonatal serum for suckling and adult hepatocytes was suggested.
Tuberculous meningitis in children
Authors: ALTUNBAŞAK ŞAKIR , ALHAN EMRE , BAYTOK VILDAN , AKSARAY NECMI , YÜKSEL BILGIN , ÖNENLI NESLIHAN 
Published: January 2011

AbstractBetween May 1988 and November 1992 the data from 52 patients with tuberculous meningitis (TBM) were noted down for their symptoms and signs, BCG vaccines, PPD tests; clinical, laboratory, radiologic and microbiologic findings. These data were discussed by means of literature knowledge. Cranial computed tomography (CT) demonstrated hydrocephalus (HC) in 98% of the patients. There was a statistically significant difference among the clinical stages on admission in respect to prognosis (P < 0.05). In addition, there was also a significant relationship between prognosis and HC (P < 0.05). However, we did not find any significant relationship between parenchymal involvement, basilar meningitis and prognosis (P > 0.05).