3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis.

abstract：:A 16-year-old girl developed rapidly progressive glomerulonephritis and renal failure. The disease was associated with high titres of antiglomerular basement membrane antibodies in serum, linear deposits of immunoglobulin G and diffuse epithelial crescents on renal biopsy. Past history revealed heavy smoking and delib...

journal_title：European journal of pediatrics

authors： Bonzel KE,Müller-Wiefel DE,Ruder H,Wingen AM,Waldherr R,Weber M

更新日期：1987-05-01 00:00:00

abstract：:In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15-18 years, with that of a large cohort of their healthy peers, using standardized questionnaire used in the European School Survey Project on Alcohol and Drugs (ESPAD). ...

journal_title：European journal of pediatrics

authors： Hogendorf AM,Fendler W,Sierosławski J,Bobeff K,Węgrewicz K,Malewska KI,Przudzik MW,Szmigiero-Kawko M,Sztangierska B,Myśliwiec M,Szadkowska A,Młynarski WM

更新日期：2017-06-01 00:00:00

abstract：:In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...

journal_title：European journal of pediatrics

authors： Lala R,Matarazzo P,Chiabotto P,de Sanctis C,Canavese F,Hadziselimovic F

更新日期：1993-01-01 00:00:00

abstract：:The purpose of this study was to determine the percentiles of interpopliteal distance to diagnose bowleg in 0-6 year-old children. Measurement of interpopliteal distance is a simple but valuable indicator in clinical examination to diagnose bowleg. We analyzed data from the anthropometry of Turkish children aged 0-6 y...

journal_title：European journal of pediatrics

authors： Kurtoglu S,Mazicioglu MM,Ozturk A,Hatipoglu N,Balci E,Ustunbas HB

更新日期：2011-09-01 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：:We report three brothers who developed nephrosis between the age of 3-10 years. The parents were nonconsanguineous and of Arab descent. The mother's sister had a son with a similar condition. Patients were steroid responders and frequent relapsers. Renal biopsies in the three brothers showed findings of minimal change...

journal_title：European journal of pediatrics

authors： Awadalla NB,Teebi AS,Elzouki AY,Shaltout A

更新日期：1989-12-01 00:00:00

abstract：UNLABELLED:A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria progressing to seizures and coma; these symptoms gradually resolved with supportive...

journal_title：European journal of pediatrics

authors： Keegan CE,Martin DM,Quint DJ,Gorski JL

更新日期：2003-04-01 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:We report fives sporadic cases of hyperekplexia or startle disease characterized by a highly exaggerated startle reflex and tonic attacks. Affected neonates suffer from prolonged periods of stiffness and are at risk for sudden death from apnea. An early diagnosis is needed. Sudden loud sounds, unexpected tac...

journal_title：European journal of pediatrics

authors： Rivera S,Villega F,de Saint-Martin A,Matis J,Escande B,Chaigne D,Astruc D

更新日期：2006-02-01 00:00:00

abstract：UNLABELLED:In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. [8]. Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the...

journal_title：European journal of pediatrics

authors： Lagae L

更新日期：2000-08-01 00:00:00

abstract：:A new method for the detection of hyperammonemia, using a kit based on the principle of microdiffusion of ammonia, is described. The method requires only one drop of blood and takes only 15 min to complete. Experiments for recovery and reproducibility were satisfactory, and good correlation was obtained when compared ...

journal_title：European journal of pediatrics

authors： Tada K,Okuda K,Watanabe K,Iimura Y,Yamada S

更新日期：1979-02-08 00:00:00

abstract：:Surfactant-associated protein (SP-A) was measured in tracheal aspirates of ventilated infants with (n = 51) and without (n = 21) respiratory distress syndrome (RDS). SP-A concentrations in samples collected after birth were significantly lower in RDS than in infants ventilated for other reasons than RDS (median 0.03 v...

journal_title：European journal of pediatrics

authors： Stevens PA,Schadow B,Bartholain S,Segerer H,Obladen M

更新日期：1992-08-01 00:00:00

abstract：UNLABELLED:We investigated the clinical and biochemical characteristics of a 6-year-old Japanese boy with very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. He had hypoketotic hypoglycaemia, exercise- and fasting-induced lethargy, hepatomegaly and cardiomegaly. Significant laboratory findings included elevated ...

journal_title：European journal of pediatrics

authors： Doi T,Abo W,Tateno M,Hayashi K,Hori T,Nakada T,Fukao T,Takahashi Y,Terada N

更新日期：2000-12-01 00:00:00

abstract：:We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...

journal_title：European journal of pediatrics

authors： Gasparoni A,Chirico G,De Amici D,Marconi M,Belloni C,Mingrat G,Rondini G

更新日期：1991-05-01 00:00:00

abstract：UNLABELLED:A retrospective analysis was performed of the records of 133 patients with extrahepatic biliary atresia (EHBA) who had undergone a Kasai portoenterostomy. The patients were divided into a non-transplantation group who survived but did not receive liver transplantation after the procedure and a failure group ...

journal_title：European journal of pediatrics

authors： Jiang CB,Lee HC,Yeung CY,Sheu JC,Chang PY,Wang NL,Yeh CY

更新日期：2003-09-01 00:00:00

abstract：:Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...

journal_title：European journal of pediatrics

authors： McGovern M,Reyani Z,O'Connor P,White M,Miletin J

更新日期：2016-12-01 00:00:00

abstract：:This paper describes the design of a study to follow the development of boys and girls in secondary schools from the age of 12 through 17 on an annual basis, in order to acquire more information concerning the growth and development of teenagers. In this study, both physical and psychological characteristics are measu...

journal_title：European journal of pediatrics

authors： Kemper HC,van 't Hof MA

更新日期：1978-10-12 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：:Monocytes play an essential role in cellular host defense as circulating phagocytes, as well as precursors of macrophages. We investigated the principal phagocytic activities in monocytes from cord blood of term infants by analysing adherence, random migration, chemotaxis, bactericidal activity, phagocytosis-associate...

journal_title：European journal of pediatrics

authors： Speer CP,Wieland M,Ulbrich R,Gahr M

更新日期：1986-10-01 00:00:00

abstract：:Chronic lung disease of prematurity (CLD) is a common respiratory disorder of preterm infants. At autopsy, fibroblast proliferation, and components of the extracellular matrix, including collagen and fibronectin, are markedly increased in the lungs of infants who die from CLD. Examination of broncho-alveolar fluid sug...

journal_title：European journal of pediatrics

authors： Kotecha S

更新日期：1996-08-01 00:00:00

abstract：:The name of the co-author Wendy J. Ungar was inadvertently omitted on the original published article. Her name and affiliation have now been added to the author list. ...

journal_title：European journal of pediatrics

authors： Blanken MO,Frederix GW,Ungar WJ,Nibbelke EE,Koffijberg H,Sanders EAM,Rovers MM,Bont L,Dutch RSV Neonatal Network.

更新日期：2020-02-01 00:00:00

abstract：:The long-term consequences of transient neonatal hypoglycemia are sparsely studied. We performed a follow-up of a cohort of neonates with blood glucose recordings < 1.7 mmol/L (< 30 mg/dL), treated with > 2.5 mmol/L (> 45 mg/dL), compared with healthy siblings. Exclusion criteria were gestational age < 35 weeks, sever...

journal_title：European journal of pediatrics

authors： Rasmussen AH,Wehberg S,Pørtner F,Larsen AM,Filipsen K,Christesen HT

更新日期：2020-12-01 00:00:00

abstract：:To reveal the influence of therapeutically induced changes of arterial blood pressure on cerebral circulation, pulsed Doppler measurements of blood velocity in the right internal carotid artery were performed in 23 neonates. A positive correlation between mean arterial blood pressure and time-averaged maximum blood ve...

journal_title：European journal of pediatrics

authors： Jorch G,Jorch N

更新日期：1987-09-01 00:00:00

abstract：:Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by mutations of one of the subunits of phagocyte reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase leading to decreased or complete absence of neutrophil oxidative burst. We report the clinical and laboratory findings in tw...

journal_title：European journal of pediatrics

authors： Chollet-Martin S,Lopez A,Gaud C,Henry D,Stos B,El Benna J,Chedevile G,Gendrel D,Gougerot-Pocidalo MA,Grandchamp B,Gérard B

更新日期：2007-02-01 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：:Forty newborns with severe shock and disseminated intravascular coagulation were randomized for treatment with heparin or placebo. Mortality was equal in both groups. The heparin group required significantly shorter periods of artificial ventilation. The coagulation system improved faster, and the coagulation pattern ...

journal_title：European journal of pediatrics

authors： Göbel U,von Voss H,Jürgens H,Petrich C,Pothmann R,Sprock I,Lemburg P

更新日期：1980-01-01 00:00:00

abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Konno T,Tada K

更新日期：1985-05-01 00:00:00

abstract：:The Dubowitz syndrome is a rare, autosomal, recessively inherited disorder of intrauterine and postnatal growth retardation leading to microcephaly, moderate mental retardation and such characteristic facial anomalies as telecanthus, epicanthic folds, blepharophimosis, ptosis, broadening of the bridge and tip of the n...

journal_title：European journal of pediatrics

authors： Küster W,Majewski F

更新日期：1986-04-01 00:00:00

abstract：INTRODUCTION:Population modelling using mixed-effects models provides a means to study variability in drug responses among individuals representative of those for whom the drug will be used clinically. DISCUSSION:The advantages of these models in paediatric studies are that they can be used to analyse sparse data, sam...

journal_title：European journal of pediatrics

authors： Anderson BJ,Allegaert K,Holford NH

更新日期：2006-11-01 00:00:00

abstract：:The risk factors for recurrent apparent life-threatening event (ALTE) are unclear although the risk of recurrent ALTE is an important consideration for the management of ALTE patients. This study aimed to identify the risk factors for recurrent ALTE. We conducted a secondary analysis of the data from a single center r...

journal_title：European journal of pediatrics

authors： Ueda R,Nomura O,Maekawa T,Sakai H,Nakagawa S,Ishiguro A

更新日期：2017-04-01 00:00:00