Purine nucleoside phosphorylase deficiency with fatal course in two sisters.

abstract：:Type I collagen is the major component of bone matrix; circulating carboxyterminal propeptide of type I procollagen (P-I-CP) levels reflect type I collagen synthesis in tissues and may be an useful index to investigate bone metabolism. We measured P-I-CP by a new radioimmunoassay in 300 healthy children and adolescent...

journal_title：European journal of pediatrics

authors： Saggese G,Bertelloni S,Baroncelli GI,Di Nero G

更新日期：1992-10-01 00:00:00

abstract：:A case of painful bilateral hip effusions resolving spontaneously in the diuretic phase of steroid responsive nephrotic syndrome in a 6-year-old girl is reported. ...

journal_title：European journal of pediatrics

authors： Gupta S,Nirmal JM,Lennox CM

更新日期：1993-02-01 00:00:00

abstract：UNLABELLED:Although Shiga toxin-producing Escherichia coli (STEC) has been isolated in Brazil, severe manifestations of the infection, such as haemorrhagic colitis and haemolytic-uraemic syndrome, are extremely rare in our population. Enteropathogenic Escherichia coli (EPEC) is the main aetiological agent of acute infa...

journal_title：European journal of pediatrics

authors： Palmeira P,Carbonare SB,Amaral JA,Tino-De-Franco M,Carneiro-Sampaio MM

更新日期：2005-01-01 00:00:00

abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

journal_title：European journal of pediatrics

authors： Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

更新日期：2001-11-01 00:00:00

abstract：:A 14-year-old boy had a 6 month history of recurrent macroscopic haematuria. A papillary non-invasive transitional cell carcinoma of the bladder was found at cystoscopy and treated by transurethral resection. In comparison to adults, bladder carcinoma is a rare cause of haematuria in children who appear to have a favo...

journal_title：European journal of pediatrics

authors： Rayner RJ,Watson AR,Bishop MC

更新日期：1988-04-01 00:00:00

abstract：:Data show that children are less severely affected with SARS-Covid-19 than adults; however, there have been a small proportion of children who have been critically unwell. In this systematic review, we aimed to identify and describe which underlying comorbidities may be associated with severe SARS-CoV-2 disease and de...

journal_title：European journal of pediatrics

authors： Williams N,Radia T,Harman K,Agrawal P,Cook J,Gupta A

更新日期：2020-09-10 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：:The purpose of this communication is to report the occurrence of early-onset Pseudomonas aeruginosa sepsis and Yersinia enterocolitica neonatal infection. This case serves as a reminder of the changing spectrum of neonatal septicaemia. ...

journal_title：European journal of pediatrics

authors： Pacifico L,Chiesa C,Mirabella S,Panero A,Midulla M

更新日期：1987-03-01 00:00:00

abstract：:Tinea of the nails is not an exclusively adult pathology. The pediatrician should include this entity in the differential diagnosis. ...

journal_title：European journal of pediatrics

authors： Martinez Roig A,Torres Rodriguez JM

更新日期：2007-09-01 00:00:00

abstract：:A 17-year-old patient suffering from Crohn disease (CD) and liver cirrhosis is presented. At an advanced stage of the disease, he died of a concomitant urosepsis. Autopsy showed that the liver cirrhosis was caused by sclerosing cholangitis. This very rare complication of CD in adolescence is discussed. ...

journal_title：European journal of pediatrics

authors： Ramelli GP,Tönz O,Zimmermann A,Lentze MJ

更新日期：1991-06-01 00:00:00

abstract：UNLABELLED:Henoch-Schönlein purpura (HSP) is a small-vessel disease in children that is often accompanied by kidney damage. Despite many efforts to improve the early assessment of renal injury in HSP patients, effective markers are still lacking. In recent years, the relationship between kidney injury molecule-1 (KIM-1...

journal_title：European journal of pediatrics

authors： Zhang J,Zeng H,Wang N,Tian X,Dou W,Shi P

更新日期：2016-01-01 00:00:00

abstract：:Although tobacco use has decreased in the general population in recent years, smoking remains high among subpopulations. This study examined whether sexual identity is associated with cigarette smoking and e-cigarette use among high school students. Data were drawn from the US Youth Risk Behavior Surveillance System (...

journal_title：European journal of pediatrics

authors： Azagba S,Latham K,Shan L

更新日期：2019-09-01 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：:The phenylalanine hydroxylase (PAH) deficiency trait is heterogeneous with a continuum of metabolic phenotypes ranging from classical phenylketonuria (PKU) to mild hyperphenylalaninaemia (MHP). More than 200 mutations in the PAH gene are associated with PAH deficiency. From theoretical considerations or in vitro expre...

journal_title：European journal of pediatrics

authors： Güttler F,Guldberg P

更新日期：1996-07-01 00:00:00

abstract：:We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRN...

journal_title：European journal of pediatrics

authors： Weening RS,Bredius RG,Vomberg PP,van der Schoot CE,Hoogerwerf M,Roos D

更新日期：1992-02-01 00:00:00

abstract：UNLABELLED:Suppurative parotitis is uncommon in newborns. During a 9-year study period, five cases of neonatal suppurative parotitis were detected in 3,624 hospital admissions. The relative risk of developing neonatal suppurative parotitis in admitted infants was 5.52 (0.62-49.35). Staphylococcus aureus was the causati...

journal_title：European journal of pediatrics

authors： Sabatino G,Verrotti A,de Martino M,Fusilli P,Pallotta R,Chiarelli F

更新日期：1999-04-01 00:00:00

abstract：:The topography and morphology of the lacrimal ducts in newborn infants was demonstrated by means of post mortem dacryocystograms and microphotograms of histologic slides. Because of bends in the course of the lower tear duct, a percentage of probings will fail to effect satisfactory perforation of the Hasner membrane....

journal_title：European journal of pediatrics

authors： Müller KM,Busse H,Osmers F

更新日期：1978-09-08 00:00:00

abstract：:Before promoting certain types of physical activities, the Health Promotion and Disease Prevention Department of Malta wanted to know whether children knew how to perform them in the first place, and if not, what barriers they had encountered. A cross-sectional, self-reported study involved 11-year-old students (boys ...

journal_title：European journal of pediatrics

authors： Micallef C,Calleja N,Decelis A

更新日期：2010-09-01 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：:An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of...

journal_title：European journal of pediatrics

authors： Fuhrmann W,Fuhrmann-Rieger A,de Sousa F

更新日期：1980-03-01 00:00:00

abstract：:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic...

journal_title：European journal of pediatrics

authors： Thompson GN,Walter JH,Bresson JL,Bonnefont JP,Saudubray JM,Leonard JV,Halliday D

更新日期：1990-03-01 00:00:00

abstract：:Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a ha...

journal_title：European journal of pediatrics

authors： Spranger J,Cantz M,Gehler J,Liebaers I,Theiss W

更新日期：1978-08-17 00:00:00

abstract：:Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 19...

journal_title：European journal of pediatrics

authors： Milenkovic T,Zdravkovic D,Savic N,Todorovic S,Mitrovic K,Koehler K,Huebner A

更新日期：2010-11-01 00:00:00

abstract：:Vitamin K prophylaxis in infancy aims to prevent life-threatening vitamin K deficiency bleeding (VKDB). The Dutch prophylactic oral daily regimen was increased sixfold from 25 to 150 μg because of a high failure rate. To evaluate the efficacy of this new regimen, incidences of intracranial VKDB under both regimens wer...

journal_title：European journal of pediatrics

authors： Löwensteyn YN,Jansen NJG,van Heerde M,Klein RH,Kneyber MCJ,Kuiper JW,Riedijk MA,Verlaat CWM,Visser IHE,van Waardenburg DA,van Hasselt PM

更新日期：2019-07-01 00:00:00

abstract：:Plasma prolactin (PRL) response to arginine was examined in 16 prepubertal and 18 pubertal children with constitutional short stature, 5 patients with hyperthyroidism and 4 patients with primary hypothyroidism. The mean basal concentration of plasma PRL was significantly higher (P less than 0.01) in primary hypothyroi...

journal_title：European journal of pediatrics

authors： Abe K,Matsuura N,Fujita H,Fujieda K,Kato T,Nohara Y,Mikami Y,Fukushima N

更新日期：1982-10-01 00:00:00

abstract：:By November 1994, 39 pregnancies had been completed in phenylketonuric mothers. Dietary control was post-conception in 6 and 2 of these offspring died of congenital heart disease and 1 other needed surgery for coarctation. There were no heart defects in the 34 offspring of the 33 pregnancies following preconception di...

journal_title：European journal of pediatrics

authors： Brenton DP,Lilburn M

更新日期：1996-07-01 00:00:00

abstract：UNLABELLED:Essential fatty acid deficiency is well known in cystic fibrosis patients, but its pathogenesis remains unclear. It might be related to protein-energy malnutrition which is a common feature of cystic fibrosis or to some specific defects in fatty acid metabolism. To avoid the deleterious effects of protein-en...

journal_title：European journal of pediatrics

authors： Roulet M,Frascarolo P,Rappaz I,Pilet M

更新日期：1997-12-01 00:00:00

abstract：UNLABELLED:Increased plasma tumour necrosis factor alpha (TNF) concentration correlates with mortality in sepsis. We suggested that pentoxifylline (PTXF), which is known to inhibit TNF production, may improve survival and attenuate clinical symptoms of sepsis in neonates. Plasma TNF levels were evaluated in 29 newborn ...

journal_title：European journal of pediatrics

authors： Lauterbach R,Zembala M

更新日期：1996-05-01 00:00:00

abstract：:W170, i.e., the work rate at a heart frequency of 170 beats per minute, and maximal oxygen uptake were determined in one performance in 20 boys and 23 girls from 6 to 16 years of age on a bicycle ergometer. The results were related to normal values according to age and height. In different age and sex groups correlati...

journal_title：European journal of pediatrics

authors： Mocellin R,Bastanier C

更新日期：1976-06-08 00:00:00

abstract：:The insulin-like growth factors (IGF-I and IGF-II) circulate bound to specific proteins. Two classes of binding proteins have been relatively well characterized differing in size, immunological activity, and physiological function. This review summarizes the more recent data on IGF-binding proteins, focusing on their ...

journal_title：European journal of pediatrics

authors： Cianfarani S,Holly JM

更新日期：1989-11-01 00:00:00