A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.

abstract：:Chronic lung disease of prematurity (CLD) remains a common cause of morbidity and mortality in preterm infants. Oxygen toxicity remains a major risk factor for the development of CLD and as a consequence the antioxidant status of CLD babies is a major focus of interest. In the present study, we determined whether asco...

journal_title：European journal of pediatrics

authors： Vyas JR,Currie A,Dunster C,Kelly FJ,Kotecha S

更新日期：2001-03-01 00:00:00

abstract：:Shock is a state of circulatory dysfunction and its diagnosis is complex in neonates. Hemodynamic assessment using echocardiography has potential to guide better management regimes in neonates with shock. Objective of this study is to analyze changes in the echocardiographic parameters in preterm neonates with shock a...

journal_title：European journal of pediatrics

authors： Pawale D,Murki S,Kulkarni D,Vardhelli V,Sharma D,Oleti T,Kiran S,Bakhru S,Koneti NR

更新日期：2020-12-01 00:00:00

abstract：:In five L-thyroxine-substituted hypothyroid children with partial epilepsy serum total thyroxine (T4) and free T4 (FT4) significantly (P less than 0.01) decreased following 2 months of carbamazepine (CBZ) administration (20 mg/kg per BW per day) from mean (+/- SD) values of 12.7 +/- 1.1 micrograms/dl and 15.5 +/- 1.8 ...

journal_title：European journal of pediatrics

authors： De Luca F,Arrigo T,Pandullo E,Siracusano MF,Benvenga S,Trimarchi F

更新日期：1986-04-01 00:00:00

abstract：UNLABELLED:To investigate the toxic effect of tobacco smoke on the fetus, we measured in cord blood the concentrations of alpha-fetoprotein (AFP), the principal serum protein in early ontogenic development, and erythropoietin (EPO), as an index of chronic fetal hypoxia. A total of 103 consecutively enrolled term newbor...

journal_title：European journal of pediatrics

authors： Beratis NG,Varvarigou A,Christophidou M,Vassilakos P,Tsapanos V,Kourounis G

更新日期：1999-07-01 00:00:00

abstract：UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

journal_title：European journal of pediatrics

authors： Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

更新日期：1998-04-01 00:00:00

abstract：UNLABELLED:Periventricular leucomalacia is a condition that causes lifelong disability and considerable economic burden. It occurs in premature infants of less than 32 weeks gestation due to their unique anatomical features. The white matter of these infants is poorly vascularised and contains oligodendrocyte progenito...

journal_title：European journal of pediatrics

authors： Blumenthal I

更新日期：2004-08-01 00:00:00

abstract：:An 18-month-old child with partial DiGeorge syndrome developed aplastic anaemia during an acute adenovirus infection. Assessment of the child's immune system revealed T-cell subset abnormalities consistent with DiGeorge syndrome. A possible link between the underlying immune deficiency and the observed complication is...

journal_title：European journal of pediatrics

authors： Tuvia J,Weisselberg B,Shif I,Keren G

更新日期：1988-08-01 00:00:00

abstract：UNLABELLED:Over the last decade, substantial progress has been made in the field of pertussis research. This includes better understanding of virulence mechanisms and their influence on the pathogenicity of Bordetella pertussis, increased awareness of the broad spectrum of disease and more insight into the host's immun...

journal_title：European journal of pediatrics

authors： Heininger U

更新日期：2001-04-01 00:00:00

abstract：:Strategies for the treatment of cystathionine beta-synthase (CBS) deficiency include (1) increasing residual enzyme activity by giving pyridoxine in those patients with vitamin responsive variants, (2) reducing the load on the affected pathway with a low methionine diet and supplementing the diet with cysteine; and (3...

journal_title：European journal of pediatrics

authors： Walter JH,Wraith JE,White FJ,Bridge C,Till J

更新日期：1998-04-01 00:00:00

abstract：:Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...

journal_title：European journal of pediatrics

authors： Fösel S

更新日期：1995-12-01 00:00:00

abstract：UNLABELLED:Osteogenesis imperfecta (OI), a dominantly inherited connective tissue disorder, is usually caused by defects in collagen I. There is growing evidence for parental mosaicism that results in affected children born to unaffected parents. This situation poses a difficult task for the geneticist because a mosaic...

journal_title：European journal of pediatrics

authors： Raghunath M,Mackay K,Dalgleish R,Steinmann B

更新日期：1995-02-01 00:00:00

abstract：:Specialist paediatric services manage a variety of presentations of functional somatic symptoms. We aimed to describe the presentation and management of children and adolescents with somatic symptom and related disorders (SSRDs) requiring admission to a tertiary children's hospital with the objective of informing the ...

journal_title：European journal of pediatrics

authors： Wiggins A,Court A,Sawyer SM

更新日期：2020-11-13 00:00:00

abstract：:In recent years, a more stable AVP surrogate, called copeptin, has been used as an adjuvant diagnostic tool for dysnatremia in adults and appears to be promising even in the pediatric age. The aim of this study is to present the distribution of plasma copeptin in a large pediatric cohort and to observe the influence o...

journal_title：European journal of pediatrics

authors： Tuli G,Munarin J,Tessaris D,Einaudi S,Matarazzo P,de Sanctis L

更新日期：2021-01-01 00:00:00

abstract：UNLABELLED:In this study, 144 consecutive percutaneous liver biopsies performed with a 1.6 mm Menghini needle, during a 2-year period were reviewed. All the children were aged under 15 years, 57 patients less than 1 year and 87 more than 1 year. All biopsies were adequate and the mean number of portal tracts examined w...

journal_title：European journal of pediatrics

authors： Lachaux A,Le Gall C,Chambon M,Regnier F,Loras-Duclaux I,Bouvier R,Pinzaru M,Stamm D,Hermier M

更新日期：1995-08-01 00:00:00

abstract：UNLABELLED:Storage of human breast milk by freezing or refrigeration of milk with and without heating have been recommended. This can hardly be avoided because of the social circumstances of most mothers who are regularly separated from their infants because of work or schooling as well as the particular needs of some ...

journal_title：European journal of pediatrics

authors： Ogundele MO

更新日期：2000-11-01 00:00:00

abstract：:A detailed autopsy study of three children with ornithine carbamoyl transferase (OCT) deficiency is presented. Although variable in extent, a basic pattern of neuropathological lesions is discernible. Case 1 shows gross cerebral atrophy, cases 2 and 3 milder lesions in the basal nuclei but also multiple cerebellar het...

journal_title：European journal of pediatrics

authors： Harding BN,Leonard JV,Erdohazi M

更新日期：1984-02-01 00:00:00

abstract：:A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduri...

journal_title：European journal of pediatrics

authors： Lehnert W,Scharf J,Wendel U

更新日期：1985-03-01 00:00:00

abstract：:Inflammatory bowel disease (IBD) is a cause of chronic intestinal inflammation in children. In a subset of patients affected by IBD, arthropathy may be the leading presenting sign. In the past years, remarkable advances in gastrointestinal endoscopy techniques have been achieved; recently, the development of capsule e...

journal_title：European journal of pediatrics

authors： Taddio A,Simonini G,Lionetti P,Lepore L,Martelossi S,Ventura A,Cimaz R

更新日期：2011-10-01 00:00:00

abstract：:The performance of two triggering systems was compared during patient triggered ventilation (PTV) of infants ventilator-dependent beyond 10 days of age. Ten infants were studied who had a median gestational age of 26.5 weeks and a postnatal age of 15.5 days. PTV was administered via the SLE ventilator and the two trig...

journal_title：European journal of pediatrics

authors： Chan V,Greenough A

更新日期：1992-11-01 00:00:00

abstract：:Complex regional pain syndrome (CRPS) is a condition of unknown etiology characterized by autonomic, sensory, and motor disturbance. CRPS usually follows an injury in the affected limb, which is often trivial in nature. CRPS involving the facial region is rare, and there have been no previous descriptions in children....

journal_title：European journal of pediatrics

authors： Goenka A,Aziz M,Riley P,Vassallo G

更新日期：2014-03-01 00:00:00

abstract：UNLABELLED:An isolated eosinophilic granuloma involving the posterior elements of a lumbar vertebra is reported in a 3-year-old boy presenting with progressive limp. Radiological investigations revealed osteolysis of the L5 right pedicle. MRI showed a well-defined homogeneous mass with nonspecific signal intensity. An ...

journal_title：European journal of pediatrics

authors： Bodart E,Nisolle JF,Maton P,Delos M,Trigaux JP,Gilliard C,Tuerlinckx D,Ninane J

更新日期：1999-05-01 00:00:00

abstract：UNLABELLED:Primary spontaneous pneumothorax (PSP) is not uncommon, and its recurrence is often a challenging clinical problem. Surgical management and predisposing factors for the recurrence of PSP, however, have not yet been well elucidated in adolescent patients. The major aim of this study was to investigate factors...

journal_title：European journal of pediatrics

authors： Chiu CY,Chen TP,Wang CJ,Tsai MH,Wong KS

更新日期：2014-11-01 00:00:00

abstract：:Inappropriate use of antibiotics in human and animal is one of the causes of antimicrobial resistance. This study evaluates the prevalence and predictors of antibiotic use among pediatric patients visiting the Emergency Department (ED) in Malaysia. A retrospective cross-sectional study was conducted in the ED of a ter...

journal_title：European journal of pediatrics

authors： Tham DWJ,Abubakar U,Tangiisuran B

更新日期：2020-05-01 00:00:00

abstract：UNLABELLED:A retrospective analysis of 218 bunk-bed accidents and a random sample survey with 991 family interviews were performed in order to establish guidelines for bunk-bed accident prevention. Falls from the top bed during sleep (35.1%) or while playing (34.4%) and falling off the ladder (23.2%) are the leading ca...

journal_title：European journal of pediatrics

authors： Mayr JM,Seebacher U,Lawrenz K,Pesendorfer P,Berghold A,Baradaran S

更新日期：2000-06-01 00:00:00

abstract：:The use of supra-physiological, exogenous corticosteroids in pregnancy may lead to neonatal adrenal suppression. We report on a single-center, case series study carried out between 2006 and 2014, which included all newborns (n = 16) of mothers using prednisolone ≥10 mg/day during pregnancy. Newborns were routinely ass...

journal_title：European journal of pediatrics

authors： de Vetten L,van Stuijvenberg M,Kema IP,Bocca G

更新日期：2017-08-01 00:00:00

abstract：:Arterial hypertension in childhood is less frequent as compared to adulthood but is more likely to be secondary to an underlying disorder. After ruling out more obvious causes, some patients still present with strongly suspected secondary hypertension of yet unknown etiology. A number of these children have hypertensi...

journal_title：European journal of pediatrics

authors： Simonetti GD,Mohaupt MG,Bianchetti MG

更新日期：2012-10-01 00:00:00

abstract：:Sweet syndrome, also referred to as acute febrile neutrophilic dermatosis, is characterized by tender, red inflammatory nodules or papules that occur in association with infection, malignancy, connective tissue disease, or following exposure to certain drugs. Although drug-induced Sweet syndrome is rare, granulocyte c...

journal_title：European journal of pediatrics

authors： Kim MJ,Choe YH

更新日期：2010-12-01 00:00:00

abstract：UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...

journal_title：European journal of pediatrics

authors： Cohen Engler A,Hadash A,Shehadeh N,Pillar G

更新日期：2012-04-01 00:00:00

abstract：:We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...

journal_title：European journal of pediatrics

authors： Kunze J,Heyne K,Wiedemann HR

更新日期：1979-06-28 00:00:00

abstract：:In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...

journal_title：European journal of pediatrics

authors： Hadders-Algra M,Huisjes HJ,Touwen BC

更新日期：1988-06-01 00:00:00