bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diffuse fibromatosis on the scalp in infancy: A variant of juvenile hyaline fibromatosis
Authors: ISHII EIICHI , HAYASHIDA YUTAKA , TORII YOSHIKUNI , IRIE KOHJI , OGAWA TOSHIYUKI , NOGUCHI SHINICHI , TSUNEYOSHI MASAZUMI 
Published: January 2011

AbstractVarious types of fibromatosis have been reported in infancy and early childhood. We describe an infant with diffuse fibromatosis on the scalp. A one year and five months‐old girl showed a diffuse and hard mass 3 × 5 cm in diameter and no tenderness on the scalp. Two months later, the size of the mass had increased and several other tumors appeared on the lateral head. The magnetic resonance imaging (MRI) disclosed that a large and diffuse tumor had spread from the frontal to occipital head; a ‘helmet‐like’ configuration of the tumor was exhibited on sagittal MR images. The tumor showed high signal intensity on T2‐weighted images and was enhanced with Gd‐DTPA. Histological examination showed a fibroblastic proliferation with intervening thick collagen bundles. The patient was diagnosed as having diffuse fibromatosis. The tumor at the resection site immediately recurred, whereas the tumor in the frontal head showed marked regression. Three months after the resection, new tumors appeared in the occipital head. The size and number of these tumors have remained unchanged for more than 18 months. The sites and appearance of the tumors were identical to that of juvenile hyaline fibromatosis (JHF) in this patient. However, JHF usually includes fibroblasts associated with large amounts of hyalinized collagen‐like material, which were not present in our patient. The different histology of JHF comparing our case and other reported cases may depend on the different phase of the disease progression at resection. Long‐term observation is necessary for the appropriate diagnosis and evaluation of prognosis in this patient.
A Japanese boy with Young‐Simpson syndrome
Authors: NAKAMURA TOSHIHIKO , NOMA SEIJI 
Published: January 2011

AbstractIn 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low‐set ears and micrognathia. This study presents an 8‐month‐old boy with virtually identical features to those in Young and Simpson's original case. The patient is a sporadic case and his parents are unrelated and phenotypically normal, hence the family data corresponds to any mode of inheritance. This is the first male case reported in the world and the first in Orientals.
Lingual cyst in infancy: Importance of palpation for diagnosis
Authors: KANEKO KAZUNARI , TAKAHASHI KEN , UNNO ATSUSHI , TAKAGI MASATOSHI , MARUYAMA TAKESHI , OBINATA KAORU , TSUCHIHASHI NOBUAKI , KAWASHIRO NOBUKO , SAKAI HIROKAZU 
Published: January 2011

AbstractTwo infants, 5 and 12 weeks of age, with lingual cysts were presented. Histological findings were compatible with a salivary retention cyst in one and a thyroglossal duct cyst in the other. Both infants were admitted to our hospital because of severe stridor that had developed from one to two weeks of age. Their lingual cysts were easily recognizable by simple palpation and were confirmed by non‐invasive imaging techniques, such as ultrasound sonography, computed tomography and magnetic resonance imaging. Lingual cyst in infancy may be large enough to cause stridor and dyspnea, and occasionally result in sudden infant death, although once diagnosis is made a radical operation can be easily performed. Therefore, it is important that palpation in the oral cavity should be performed with all infants with persistent stridor as a part of a physical examination.
Hypercalcemia in children: An overview
Authors: NISHIYAMA SOROKU 
Published: January 2011

AbstractHypercalcemia occurs in children of all ages. A serum calcium level over 15 mg/dL can be life‐threatening. The association between familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NHPT) has been discussed. FHH is characterized by a high serum calcium concentration, relatively low urine calcium excretion, and an inappropriately normal parathyroid hormone (PTH) concentration. On the other hand, NHPT is a rare disease characterized by markedly increased serum calcium (15 mg/dL) and PTH concentrations, and is fatal without parathyroidectomy early in life. Recently, a complementary DNA encoding an extracellular calcium‐sensing receptor has been isolated. Furthermore, three mutations in the receptor gene in FHH and NHPT individuals have been described. Thus, heterozygotes and homozygotes of FHH may have an intermittent hypercalcemia and NHPT, respectively. Vitamin D‐related hypercalcemia, and vitamin D intoxication and immobilization are also discussed.
Recent advances in molecular analysis of skeletal dysplasia
Authors: OZONO KEIICHI 
Published: January 2011

AbstractRecent advances in molecular and cellular biology have contributed significantly to the elucidation of the pathogenesis of many kinds of skeletal dysplasia. The number of skeletal dysplastic diseases that are identified to have associated abnormalities in genes has increased. Some diseases such as achondroplasia, thanatophoric dysplasia and hypochondroplasia are shown to be allelic. In addition to those diseases associated with mutations of the fibroblast growth factor receptor 3 gene, the abnormalities in collagen, Gsα, vitamin D receptor and tissue nonspecific alkaline phosphatase genes are briefly reviewed in this article.
Diagnosis of X‐linked hypophosphatemia vitamin D resistant rickets
Authors: YAMAMOTO TAKEHISA 
Published: January 2011

AbstractRecent advances in the pathophysiology and diagnosis of X‐linked hypophosphatemic rickets (XLH) are reviewed. The recent discovery of the gene that is responsible for XLH especially enables us to understand the mechanism of hypophosphatemia in XLH. Laboratory and radiological findings are important for the diagnosis. However, dental abnormalities such as spontaneous dental abscess and a defect of dentin maturation are also notable findings.
Genetic analysis of hypophosphatasia
Authors: SATO SEIJI , MATSUO NOBUTAKE 
Published: January 2011

AbstractA review is presented of the recent advances in: (i) clinical features, (ii) biochemistry and molecular biology of alkaline phosphatase, (iii) genetic defect in hypophosphatasia, and (iv) prenatal diagnosis. Despite the recent progress, the pathogenesis of hypophosphatasia is far from being elucidated. More clinical cases and further characterization of the alkaline phosphatase gene mutations are needed for better understanding of the clinical spectrum of the entity.
Nasopharyngeal colonization with Haemophilus influenzae type b among infants and children in Japan
Authors: KUROKI HARUO , ISHIKAWA NOBUYASU , UEHARA SUZUKO , HIMI KYOKO , SONOBE TOMOYOSHI , NIIMI HIROO 
Published: January 2011

AbstractHealthy carriers of Haemophilus influenzae type b (Hib) play an important role in the spread of invasive Hib disease. The aim of the present study was to estimate Hib colonization among infants and children in Japan. Specimens from throat and nasopharyngeal cultures were obtained by thorough swabbing of both tonsils and the posterior pharynx. Specimens were inoculated on Hib antiserum agar. This was prepared with Levinthal base and Hib antiserum. Conventional methods were used concomitantly. Four of 474 infants from 1–48 months of age (0.84%) had Hib cultured from their nasopharynx. The carriage rate in 1–12 month old infants was 0.62% (2/322 cases), and that in 13–48 month old children was 1.32% (2/152 cases). Five of 167 (3.0%) 13‐year‐old children, and five of 154 (3.2%) 9‐year‐old children were asymptomatic carriers. Thirty‐five of 104 household contacts of a patient with invasive Hib disease (33.6%) had Hib colonization. The carriage rate in healthy Japanese children may not be different from that in the USA prior to the availability of the conjugate Hib vaccine. The Hib carriage rate in household contacts of patients with invasive Hib disease was higher than in healthy children (P < 0.005). Our results suggest the possibility of an outbreak of invasive Hib disease in Japan.
Second generation hepatitis C virus antibody‐positive rate in children: Investigation of the route of hepatitis C virus infection in children with no history of transfusion
Authors: MANIWA HIROKO , MIYAKE YOSHISHIGE , ODA TAKAYA , LI ROU , YOKOYAMA TAKAO , SUGIYAMA KOHACHIRO 
Published: January 2011

AbstractHepatitis C virus (HCV) antibody and HCV‐RNA screening was undertaken in 1864 children, aged from 0 to 15 years who did not have a history of transfusion. Anti‐HCV was tested by the second generation enzyme‐linked immunosorbent assay (ELISA). HCV RNA was examined by reverse transcriptase‐nested polymerase chain reaction (PCR). Two of the 1864 children were positive for serum HCV RNA. They had no history of transfusion, no episodes of horizontal transmission, but the mother in each case was positive for serum HCV RNA, implying mother‐to‐infant infection. Eleven children who were positive for HCV antibody with low values and negative for serum HCV RNA were classified as belonging to the high bovine milk (composed primarily of casein)‐specific IgG4 value group. This suggested that many of the children who were falsely positive for HCV antibody using ELISA had antibodies to casein.
p21 (WAF1/Cip1/Sdi1/Pic1) mRNA is expressed in neuroblastoma cell lines but not in Ewing's sarcoma and primitive neuroectodermal tumor cell lines
Authors: MAEDA TARO , NISHIMURA NORIYUKI , NAKAMURA HAJIME , SANO KIMIHIKO 
Published: January 2011

AbstractThe p21 protein inhibits the activity of cyclin‐Cdk complexes and suppresses cell cycle progression. Wild type p53 can induce p21, but mutated p53 cannot. Previous studies have demonstrated that mutation of p53 is absent in neuroblastoma (NB). These reports prompted us to examine whether p53 induced p21 in NB. We examined the expression of p21 and p53 mRNA in eight NB, two Ewing's sarcoma (ES) and two primitive neuroectodermal tumor (PNET) cell lines by Northern blot analysis, and sequenced p53 cDNA of these cells. Although p53 mRNA was detected in all analyzed cell lines by Northern blot analysis, p21 mRNA was detected in six NB but not in two NB, two ES and two PNET cell lines. We detected the point mutation of p53 at codon 273 (CGT to TGT) in one NB and two ES cell lines. The non‐transforming substitution at codon 72 (CCC to CGC) was detected in all analyzed cell lines. One PNET cell line had a large deletion of p53 cDNA. These results showed that p21 mRNA was usually expressed in NB but not in ES and PNET. This may suggest that the down stream of the p53 signal transduction pathway in NB is different from that of the closely related tumors of ES and PNET.
Acute disseminated encephalomyelitis exacerbated by varicella
Authors: GüCüYENER KIVILCIM , KULA SERDAR , SERDAROGLU AYŜE , TAH E TURGUT 
Published: January 2011

AbstractThe actual incidence of central nervous system complications with varicella ranges from 0.1 to 0.7% in several series and the time interval between the rash and the type of neurological manifestation varies widely. Cerebellar ataxia and hypotonia are the most common neurological abnormalities associated with varicella. We present a report on a 6‐year‐old girl with an unusual course of disease finally presenting a probable diagnosis of acute disseminated encephalitis.
Enalapril‐induced anemia in a renal transplant patient
Authors: ÖZBEK NAMIK , ÖZEN SEZA , SAATĈI üMIT 
Published: January 2011

AbstractSide‐effects of angiotensin converting enyzme (ACE) inhibitors, such as a slight decrease in hematocrit, are increasingly being reported. A 14‐year‐old renal transplant patient on enalapril therapy developed anemia with reticulocytosis. She was investigated for other causes of anemia and enalapril therapy was ceased. Her hemoglobin level increased and reticulocyte count decreased after cessation of therapy. No other cause of anemia was found. Although anemia in patients receiving ACE inhibitors such as enalapril has previously been reported, this is the first reported patient who developed anemia associated with mild reticulocytosis and macrocytosis.
Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease
Authors: TYLKI‐SZYMAŃSKA ANNA , RUJNER JOLANTA , LUGOWSKA AGNIESZKA , SAWNOR‐KORSZYŃSKA DANUTA , WOŹNIEWICZ BOGDAN , CZARNOWSKA ELŹBIETA 
Published: January 2011

AbstractLysosomal acid lipase (LAL) deficiency leads to two phenotypically different diseases: cholesteryl ester storage disease (CESD) and Wolman's disease. Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides. Deficiency of LAL results in intralysosomal storage of cholesteryl esters and triglycerides. CESD has a chronic and benign course and is characterized by hepatomegaly and mild hypercholesterolemia. It leads to fibrosis (cirrhosis) and early atherosclerosis. This report presents the clinical, biochemical and microscopic data of seven patients with CESD followed up over 10 years. The physical development of all the study children remained within the normal range; 7 patients had hepatomegaly and 6 also had splenomegaly. Three patients had normal cholesterol, triglycerides and transaminases values; the other four had slightly elevated levels for these parameters. The activity of LAL in all patients was reduced to below 30% of the lower normal value. Histologically, cholesteryl crystals and lipid storage vacuoles in Kupffer cells were present in all examined patients except one. Accumulation of cholesteryl esters was visible on thin‐layer chromatography of lipid extracts obtained from liver biopsies.
Infant influenza
Authors: SAKUMA TAKAHISA 
Published: January 2011

AbstractReports on the symptoms of infant influenza (less than 1 year of age) are very few. From 1989 to 1996, 105 infants with influenza were examined. The symptoms, nutrition and source of infection of the 105 patients were investigated in Sakuma Pediatric Clinic and viral studies were performed at the Kitakyushu City Institute of Environmental Sciences. The symptoms of patients under 6 months old are very mild, with a low maximum body temperature and a short duration of fever. Other complications are few. The symptoms gradually become more severe with each month of age. The ratio of patients displaying a diphasic fever with two peak temperatures increases with each month of age. Over 50% of patients over 9 months old have this diphasic fever with two peak temperatures. It is inconclusive whether an anti‐infective factor in human milk exists or not. Of the 105 patients in this study, 28 were under 4 months of age; of these 28, all but 3 were infected by family members.
Immunogenicity and safety of Haemophilus influenzae type b capsular polysaccharide tetanus conjugate vaccine (PRP‐T) presented in a dual‐chamber syringe with DTP
Authors: KANRA GÜLER , YURDAKÖK KADRIYE , CEYHAN MEHMET , ÖZMERT ELIF , TÜRKAY FIKRI , PEHLIVAN TAMER 
Published: January 2011

AbstractSeparate injections of Haemophilus influenzae type b capsular polysaccharide‐tetanus conjugate (PRP‐T) vaccine and diphtheria‐tetanus‐pertussis (DTP) reconstitution of freeze‐dried PRP‐T vaccine with liquid DTP vaccine have been shown to be safe and immunogenic in infants. The present study was conducted to test the safety and immunogenicity of the liquid combination vaccine administered to young infants in the dual‐chamber syringe. The study was a monocenter, open clinical trial of 3 month‐old infants receiving PRP‐T and DTP vaccines in the dual‐chamber syringe reconstituted prior to injection. Healthy infants were immunized according to a 3, 4 and 5 months‐of‐age schedule. The vaccine was administered in a dual‐chamber syringe, ready to use with two chambers. The proximal chamber contained freeze‐dried PRP‐T and the distal chamber contained liquid combination‐vaccine DTP. The freeze‐dried PRP‐T vaccine was reconstituted with the liquid DTP vaccine in the same unidose dual‐chamber syringe (0.5 mL) and was injected intramuscularly into the deltoid region. Blood sampling was performed prior to vaccination at 3 months of age and after the third vaccination at 6 months. The primary end‐point was the serological response to PRP‐T vaccine as expressed by the percentage of infants with an antibody titer greater than or equal to 1 μg/mL. The reactogenicity was expressed as the percentage of reported local and systemic reactions. A total of 108 infants were included in the study and received the dual‐chamber syringe vaccine. After the third injection, all the infants had a PRP antibody titer greater than or equal to 0.15 μg/mL and 94.4% of infants had a PRP antibody titer greater than or equal to 1 μg/mL; the pertussis agglutinin titers were over the threshold 40 and 80 in all infants and 98.1% were over the threshold 320. After the third injection, all the infants had diphtheria antibody titers greater than 0.1 IU/mL and 83.3% had titers greater than 1 IU/mL; all the infants had tetanus antibody titers greater than 0.1 IU/mL and 97.2% had results over 1 IU/mL. Thirty‐seven infants (34.6%) had local reactions and 64.5% had systemic reactions. The dual‐chamber syringe may reduce the cost of vaccine delivery, as well as the workload, and increase the vaccine acceptability and coverage rate of vaccines.
Shigella gastroenteritis: Clinical and epidemiological aspects, and antibiotic susceptibility
Authors: YURDAKÖK KADRIYE , SAHIN NALAN , ÖZMERT ELIF , BERKMAN ERDOGAN 
Published: January 2011

AbstractThe epidemiology and antibiotic sensitivity of Shigella species is changing worldwide. The present study surveyed the changing clinical and epidemiological characteristics and antibiotic susceptibility of Shigella gastroenteritis in Hacettepe University Ihsan Dogramaci Children's Hospital Diarrhoea Training and Treatment Unit between 1987 and 1994. Among 19 812 diarrheal admissions, 618 (3.2%) patient files with Shigella gastroenteritis were reviewed retrospectively. Shigella soneii has been the commonest isolate (64%) since 1987 followed by S. flexineri (30%), S. boydii (5%) and S. dysenteriae (1%), the latter having not been isolated since 1990. The isolate rate of S. sonnei has increased whereas the isolation rate of S. flexineri has decreased concomitantly since 1987 (r = −0.94; P< 0.001). The majority of cases (365/618, 59%) were between 1 and 5 years of age. On admission bloody diarrhea was present in 36%, seizures in 3% and mild‐moderate dehydration in 11% of cases. No case had severe dehydration. Only six patients (1%) were hospitalized. No deaths were recorded. The resistance rate for trimethoprim‐sulfamethoxazole has increased from 27% in 1990 to 66% in 1994 (P < 0.05) while the resistance rate for ampicillin has decreased from 81% in 1987 to 32% in 1993 (P< 0.001). Shigella flexineri was found to have higher resistance rates to ampicillin, sulbactam‐ampicillin, chloramphenicol and gentamicin than S. sonnei. Changing Shigella sp. over the years may be the reason for the mild course of Shigella gastroenteritis. Further regional epidemiological studies are necessary to develop more appropriate management guidelines, especially in developing countries.
Reflex sympathetic dystrophy in childhood: A case report
Authors: OKADA TAISUKE , MAEDA MASATO , TAKECHI TOMOKI , TOMODA TAKASHI , WAKIGUCHI HIROSHI , KURASHIGE TAKANOBU 
Published: January 2011

AbstractA case report is presented of a 15‐year‐old girl with reflex sympathetic dystrophy (RSD). She was referred to hospital because of left upper limb pain. Her left upper limb was cold, edematous and blue with a limited active range of movement. The serum concentration of noradrenaline was lower on the painful side than on the healthy side, and neurotropin, which has an antinociceptive effect to hyperalgesia, was clearly effective. Early diagnosis and management is essential in the treatment of RSD and administration of neurotropin is a useful and non‐invasive treatment without severe adverse effects.
A case of Epstein‐Barr virus infection with exophthalmos and ocular muscle swelling
Authors: SUGIYAMA KENJI , ITO MASAHIRO , ICHIMI RYOJI , HIGASHIKAWA MASAMUNE , KAWASAKI HAJIME , KOMADA YOSHIHIRO , SAKURAI MINORU , WAKIGUCHI HIROSHI , KIKUTA HIDEAKI , FUKAYAMA MASAHISA 
Published: January 2011

AbstractA 14‐year‐old girl with Epstein‐Barr virus (EBV) infection developed exophthalmos and ocular muscle swelling. The EBV genome was detected in T lymphocytes taken from the submandibular gland, temporal muscle and cervical lymph nodes. A surface marker analysis of her peripheral blood demonstrated that CD45RO‐positive T lymphocytes were strongly activated. Immunosuppressive treatment, including steroid and cyclophosphamide, was effective in improving the symptoms. Immunosuppressive therapy may be included as the choice of treatment for EBV infection.
Neuroblastoma and Poland syndrome in a 15‐year‐old boy
Authors: ÇAKSEN HÜSEYIN , PATIROGLU TÜRKAN , ÖZDEMIR M. AKIF , PATIROGLU TAHIR E. , POYRAZOGLU M. HAKAN , TERCAN MUSTAFA 
Published: January 2011

AbstractA 15‐year‐old boy with neuroblastoma associated with Poland syndrome is presented. He was admitted with a 2‐month history of progressive back pain and a 3‐day history of weakness of the lower extremities, encopresis and enuresis. On physical examination, in addition to paraplegia, absence of the pectoralis major muscle was diagnosed on the right side of his chest. A large heterogeneous mass in the right side of the thorax was revealed on computerized tomography. Neuroblastoma was diagnosed on histopathological analysis of the mass. To the authors' knowledge this is the first case of neuroblastoma associated with Poland syndrome in the literature.
Development of jaundice in Korean neonates after Cesarean section
Authors: LEE CHRISTEN S. , VREMAN HENDRIK J. , CHOI JUNG HWAN , YUN CHONG KU , STEVENSON DAVID K. 
Published: January 2011

AbstractThe aim of the project was to determine the physiologic mechanisms of later‐ and higher‐peak transitional plasma bilirubin levels in Korean infants. Blood carboxyhemoglobin, corrected for inhaled CO (COHbc), as an index of bilirubin production, and plasma total bilirubin levels in 40 healthy term Korean infants delivered by Cesarean section were measured throughout the first week of life. The COHbc levels were significantly higher in the Korean neonates than in previously studied Caucasian neonates. Moreover, COHbc levels decreased by 28% during the first 7 days of life from 0.85 ± 0.20 to 0.61 ± 0.34% (P < 0.025). This pattern parallels a 15% decrease in total hemoglobin from 181 ± 23 to 154 ± 53g/L (P < 0.05). In contrast, plasma bilirubin concentrations more than doubled from 80 ± 32 to 172 ± 48 μmol/L (4.7 ± 1.8 to 10.0 ± 2.8 mg/dL; P < 0.001), remaining unchanged between days 4 and 7. Both increased production and decreased elimination of bilirubin contribute to physiologic jaundice in Korean infants.