Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister.

abstract：:Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...

journal_title：European journal of pediatrics

authors： Heidenreich RA

更新日期：1995-01-01 00:00:00

abstract：UNLABELLED:Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder commonly prevalent in children worldwide including Thailand. However, there are very few studies thus far addressing risk factors for ASD in Thai children. This case-control study aims to investigate whether various risk factors es...

journal_title：European journal of pediatrics

authors： Khaiman C,Onnuam K,Photchanakaew S,Chonchaiya W,Suphapeetiporn K

更新日期：2015-10-01 00:00:00

abstract：:A 4-month-old boy was admitted for having diffuse eruption in the perianal region, legs, trunk hands, and face with failure to thrive, edema, hypoalbuminemia, and anemia. The patient was thought to have acrodermatitis enteropathica-like eruption due to malabsorption. The eruption completely resolved with enzyme supple...

journal_title：European journal of pediatrics

authors： Pekcan S,Kose M,Dogru D,Sekerel B,Atakan N,Ozcelik U,Cobanoglu N,Yalcin E,Kiper N

更新日期：2009-01-01 00:00:00

abstract：UNLABELLED:The severity and duration of immunosuppression caused by corticosteroids (CSs) usage have not been extensively studied. We aimed to investigate the effects of CSs on the various compartments of immune system in relation to timing of initiation and persistence of therapy. Pediatric patients with idiopathic ne...

journal_title：European journal of pediatrics

authors： Baris HE,Baris S,Karakoc-Aydiner E,Gokce I,Yildiz N,Cicekkoku D,Ogulur I,Ozen A,Alpay H,Barlan I

更新日期：2016-05-01 00:00:00

abstract：BACKGROUND:Human immunodeficiency virus type 1 (HIV-1) infected children treated with highly active antiretroviral therapy (HAART) may develop a significant reduction of plasma viremia associated with an increase in CD4+ T-cell counts. Functional capacity of this reconstituted immune system in response to recall antige...

journal_title：European journal of pediatrics

authors： Ching N,Deville JG,Nielsen KA,Ank B,Wei LS,Sim MS,Wolinsky SM,Bryson YJ

更新日期：2007-01-01 00:00:00

abstract：:The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann ty...

journal_title：European journal of pediatrics

authors： Tolksdorf M,Kunze J,Gross-Selbeck G,Sperling K,Wegner RD,Wieczorek V,Vogel M

更新日期：1977-08-23 00:00:00

abstract：:The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

journal_title：European journal of pediatrics

authors： Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

更新日期：2017-07-01 00:00:00

abstract：:A 22 years old female with the late-onset of argininosuccinic aciduria was successfully treated for 5 months with a mixture of essential amino acids and their keto-analogues. There was a marked change in plasma ammonia, plasma amino acids and argininosuccinic acid excretion. A long term anabolic response was reflected...

journal_title：European journal of pediatrics

authors： Böhles H,Heid H,Harms D,Schmid D,Fekl W

更新日期：1978-07-19 00:00:00

abstract：:The heuristic concept of "inborn errors of metabolism" was introduced more then 70 years ago and by analogy has prompted the more recent introduction of the term "inborn errors of immunity". It is now well recognized that many inborn errors of immunity can be considered inborn errors of metabolism. Typically, many for...

journal_title：European journal of pediatrics

authors： Burgio GR,Ugazio AG

更新日期：1985-05-01 00:00:00

abstract：UNLABELLED:Congenital hypothyroidism (CH) due to thyroglobulin (TG) deficit is an autosomal recessive disease (OMIM #274700) characterized by hypothyroidism, goiter, low serum TG, and a negative perchlorate discharge test. The aim of this study was to perform the genetic analysis of the TG gene in two sisters born from...

journal_title：European journal of pediatrics

authors： Agretti P,De Marco G,Di Cosmo C,Ferrarini E,Montanelli L,Bagattini B,Vitti P,Tonacchera M

更新日期：2013-07-01 00:00:00

abstract：:Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...

journal_title：European journal of pediatrics

authors： Beltinger C,Saule H

更新日期：1988-12-01 00:00:00

abstract：UNLABELLED:The aim of this study was to evaluate to what extent serum vitamins A and E cystic fibrosis are affected by the underlying disease, pancreatic sufficiency or insufficiency, meconium ileus, nutritional status, age and treatment (enzyme and vitamin supplementation). Serum vitamin A and E levels were determined...

journal_title：European journal of pediatrics

authors： Lancellotti L,D'Orazio C,Mastella G,Mazzi G,Lippi U

更新日期：1996-04-01 00:00:00

abstract：:IgG subclass levels were determined in 448 normal children from 6 months to 18 years of age and in 141 healthy adults by radial immunodiffusion using monoclonal antibodies. Age-normal percentile values were calculated for each year of age up to 18 years for IgG1, IgG2, IgG3 and in adults for all four subclasses. The b...

journal_title：European journal of pediatrics

authors： Plebani A,Ugazio AG,Avanzini MA,Massimi P,Zonta L,Monafo V,Burgio GR

更新日期：1989-12-01 00:00:00

abstract：:One year's experience in screening for congenital hypothyroidism in Greece is reported. Thyroid stimulating hormone (TSH) determination by a radioimmunoassay on dried blood spots was selected as the screening method. During the first year of screening 75,879 newborn infants were tested from Guthrie blood spots taken o...

journal_title：European journal of pediatrics

authors： Mengreli C,Kassiou K,Tsagaraki S,Pantelakis S

更新日期：1981-10-01 00:00:00

abstract：:Blood pressure (BP) is variable in children and this could affect BP assessment, but the magnitude of within-visit BP variability (BPV) over consecutive measurements has never been investigated. This study aimed to determine the direction and magnitude of, and factors affecting, within-visit BPV in children and adoles...

journal_title：European journal of pediatrics

authors： Veloudi P,Blizzard CL,Srikanth VK,Schultz MG,Sharman JE

更新日期：2018-02-01 00:00:00

abstract：:In a five-year-old girl with congenital hepatic fibrosis raised erythrocyte sedimentation rate and serum gammaglobulins were noted for 3 years. Needle liver biopsy showed histological features of cholangitis and Klebsiella oxytoca was cultured from a liver biopsy specimen. Antibiotic treatment resulted in normalizatio...

journal_title：European journal of pediatrics

authors： Alvarez F,Hadchouel M,Bernard O

更新日期：1982-11-01 00:00:00

abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Extraskeletal bone formation associated with inflammation preceding the osseous conversion usually begins in the first decade, predominantly in the head, neck, ...

journal_title：European journal of pediatrics

authors： Kartal-Kaess M,Shore EM,Xu M,Schwering L,Uhl M,Korinthenberg R,Niemeyer C,Kaplan FS,Lauten M

更新日期：2010-11-01 00:00:00

abstract：:Adverse drug reactions (ADRs) are a significant problem in children, affecting one in ten children in hospital. Within the community, one in 500 children will experience an adverse drug reaction each year. Pharmacovigilance has been useful in detecting suspected ADRs. However, most ADRs are unreported and often not su...

journal_title：European journal of pediatrics

authors： Choonara I

更新日期：2013-05-01 00:00:00

abstract：UNLABELLED:Adolescents are becoming more independently responsible for their medication regimen; therefore, adolescence is a crucial period to address medication beliefs, as many of the beliefs may persist into adulthood and can impair adherence and willingness to continue a prescribed therapy. Within this study, we ai...

journal_title：European journal of pediatrics

authors： Koster ES,Heerdink ER,de Vries TW,Bouvy ML

更新日期：2014-04-01 00:00:00

abstract：:Soon after birth a 36-week-gestational age, appropriate for dates, newborn infant developed hyperinsulinaemic hypoglycaemia which responded to diazoxide and glucose infusion. While normoglycaemic, he became increasingly ill with high lactate, pyruvate, and alanine levels. Provocation tests suggested a defect in lactat...

journal_title：European journal of pediatrics

authors： Aynsley-Green A,Weindling AM,Soltész G,Jenkins PA

更新日期：1983-12-01 00:00:00

abstract：INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in M...

journal_title：European journal of pediatrics

authors： Busche A,Hennermann JB,Bürger F,Proquitté H,Dierks T,von Arnim-Baas A,Horn D

更新日期：2009-08-01 00:00:00

abstract：UNLABELLED:Repeated invasive procedures occur routinely in neonates who require intensive care, causing pain at a time when it is developmentally unexpected. Multiple lines of evidence suggest that repeated and prolonged pain exposure alters their subsequent pain processing, long-term development, and behaviour. Primar...

journal_title：European journal of pediatrics

authors： Gitto E,Pellegrino S,Manfrida M,Aversa S,Trimarchi G,Barberi I,Reiter RJ

更新日期：2012-06-01 00:00:00

abstract：:Sera from 33 newborn infants with gestational ages ranging from 27 to 41 weeks were tested by radioimmunoassay for IgG antibodies to surface antigens of group B streptococci (GBS) types Ia, Ib, II and III. Antibody levels to GBS antigens were positively correlated to gestational age and birthweight. However, only the ...

journal_title：European journal of pediatrics

authors： Christensen KK,Christensen P,Duc G,Höger P,Kind C,Matsunaga T,Müller B,Seger RA

更新日期：1984-06-01 00:00:00

abstract：:In the serum of two infant sisters with a congenital renal salt-losing syndrome, Na was rather low and K considerably increased. Even with Na levels of 126 mval/1, sodium was excreted in the urine. Creatinine and hippurate clearances were normal. Primary disturbances of the steroid metabolism were not detectable; plas...

journal_title：European journal of pediatrics

authors： Bierich JR,Schmidt U

更新日期：1976-01-02 00:00:00

abstract：UNLABELLED:Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatmen...

journal_title：European journal of pediatrics

authors： Eich GF,Superti-Furga A,Umbricht FS,Willi UV

更新日期：1999-11-01 00:00:00

abstract：:Gradenigo's syndrome (GS) is a rare disease characterised by the triad otitis media, pain in the region innervated by the first and the second division of trigeminal nerve and abducens nerve palsy. Septic sinus thrombosis is one of the most frequent and relevant complication of GS; it is often due to persistent damage...

journal_title：European journal of pediatrics

authors： Scardapane A,Del Torto M,Nozzi M,Elio C,Breda L,Chiarelli F

更新日期：2010-04-01 00:00:00

abstract：UNLABELLED:Fifty-two cases of childhood brucellosis which occurred in north-western Greece during the 15-year period 1979-1993, are reviewed. It is believed that they represent very closely the total incidence of the disease in the region which has a population of 100,000 children aged 0-14 years old. Brucellosis-affec...

journal_title：European journal of pediatrics

authors： Galanakis E,Bourantas KL,Leveidiotou S,Lapatsanis PD

更新日期：1996-01-01 00:00:00

abstract：:A 4-month-old infant was admitted to the Pediatric Intensive Care Unit with Pneumococcal meningitis. A few hours after admission he developed intractable convulsions that could not be stopped with phenytoin, phenobarbitone and a continuous drip of diazepam. Thiopentone sodium anaesthesia was induced for 24 h terminati...

journal_title：European journal of pediatrics

authors： Goitein KJ,Mussaffi H,Melamed E

更新日期：1983-04-01 00:00:00

abstract：UNLABELLED:A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identifi...

journal_title：European journal of pediatrics

authors： Michigami T,Uchihashi T,Suzuki A,Tachikawa K,Nakajima S,Ozono K

更新日期：2005-05-01 00:00:00

abstract：:It is the pediatrician's role to promote the child's well-being and to help parents raise healthy, well-adjusted children. Today's pediatricians are confronted with a patient population in which there is a high prevalence of child abuse in its different presentations (physical, sexual, and psychological abuse and/or n...

journal_title：European journal of pediatrics

authors： Marchand J,Deneyer M,Vandenplas Y

更新日期：2012-01-01 00:00:00