Triple A syndrome: 32 years experience of a single centre (1977-2008).

abstract：:Male pseudohermaphroditism (MPH) is defined as incomplete masculinization in patients with normal male karyotype (XY) and testicular histology. MPH encompasses a spectrum of female to male phenotypes and presents both diagnostic and technical challenges to the surgeon. Once gender is assigned, based on phenotype, adeq...

journal_title：European journal of pediatrics

authors： Packer MG

更新日期：1993-01-01 00:00:00

abstract：:A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensat...

journal_title：European journal of pediatrics

authors： Leupold D,Bojasch M,Jakobs C

更新日期：1982-02-01 00:00:00

abstract：:Haemodynamic assessment during the transitional period in preterm infants is challenging. We aimed to describe the relationships between cerebral regional tissue oxygen saturation (CrSO2), perfusion index (PI), echocardiographic, and clinical parameters in extremely preterm infants in their first 72 h of life. Twenty ...

journal_title：European journal of pediatrics

authors： Janaillac M,Beausoleil TP,Barrington KJ,Raboisson MJ,Karam O,Dehaes M,Lapointe A

更新日期：2018-04-01 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：:The effect of intranasal LH-RH on cryptorchidism was investigated in 45 prepubertal boys with 68 undescended testes. A daily dose of 1.2 mg LH-RH was given for 4 weeks. A total of 16 testes (24%) descended. Follow-up examination 5 years later showed that relapse had occurred in two cases. Fifty-two testes did not desc...

journal_title：European journal of pediatrics

authors： Bertelsen A,Thorup J,Pedersen PV,Mauritzen K,Skakkebaek NE

更新日期：1987-01-01 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：:Exchange transfusion using a peripheral artery and vein was carried out 18 times in 17 newborn infants. The arteries use to withdraw blood were the radial [13], the ulnar [3] an the posterior tibial [2]. Infusion of blood was carried out simultaneously through a peripheral vein. There was no mortality or morbidity dir...

journal_title：European journal of pediatrics

authors： Sagi E,Eyal F,Armon Y,Arad I,Robinson M

更新日期：1981-11-01 00:00:00

abstract：:To investigate the changes in the 1 alpha,25-dihydroxyvitamin D [1,25(OH)2D] level and the role of parathyroid hormone (PTH) and calcitonin (CT) during the early neonatal periods, we measured 1,25(OH)2D, 25-hydroxyvitamin D [25(OH)D], PTH specific for mid-regions (mPTH) and urinary cAMP (UcAMP) to evaluate the renal t...

journal_title：European journal of pediatrics

authors： Nishioka T,Yasuda T,Niimi H,Nakajima H

更新日期：1988-02-01 00:00:00

abstract：:Recent studies revealed that fluid overload is associated with higher mortality in critically ill children and adults. This study aimed to evaluate the association between fluid overload in the first 3 days of life and mortality in extremely low birth weight infants. This single-center retrospective cohort study inclu...

journal_title：European journal of pediatrics

authors： Matsushita FY,Krebs VLJ,Ferraro AA,de Carvalho WB

更新日期：2020-11-01 00:00:00

abstract：:We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic aciduria. In addition, we report a national French survey of 119 patients with ornithine transcarbamylase (OTC) deficiency enzymat...

journal_title：European journal of pediatrics

authors： Saudubray JM,Touati G,Delonlay P,Jouvet P,Narcy C,Laurent J,Rabier D,Kamoun P,Jan D,Revillon Y

更新日期：1999-12-01 00:00:00

abstract：:Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In h...

journal_title：European journal of pediatrics

authors： Braga SE,Gerber A,Meier C,Weiersmüller A,Zimmermann A,Herrmann U,Liechti S,Moser H

更新日期：1990-12-01 00:00:00

abstract：UNLABELLED:The objective of this analysis was to determine the relationship between wheezing at different age groups in children and the prevalence of bronchial hyperreactivity at the age of 10. A population-based cross-sectional study was conducted in Leipzig and the region around Halle in Germany. Of 3105 10-year-old...

journal_title：European journal of pediatrics

authors： Wjst M,Dold S,Roell G,Reitmeir P,Fritzsch C,von Mutius E,Thiemann HH

更新日期：1994-09-01 00:00:00

abstract：:Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...

journal_title：European journal of pediatrics

authors： Surana P,Tang S,McDougall M,Tong CY,Menson E,Lim M

更新日期：2011-08-01 00:00:00

abstract：UNLABELLED:The fatty acid composition of human breast milk was determined longitudinally after term and preterm delivery by high resolution gas liquid chromatography. Milk samples were obtained at days 5, 10, 20 and 30 after term (n = 38) or preterm (n = 19) delivery. The saturated fatty acids C10:0 and C12:0 and the p...

journal_title：European journal of pediatrics

authors： Genzel-Boroviczény O,Wahle J,Koletzko B

更新日期：1997-02-01 00:00:00

abstract：:To find out whether cytomegalovirus (CMV) infection during the first months of life influences child development, developmental assessment at the age of 2 years was performed on 116 Finnish children chosen at random in a maternity hospital and followed from birth for the occurrence of CMV infection. Two of the childre...

journal_title：European journal of pediatrics

authors： Granström ML

更新日期：1979-01-01 00:00:00

abstract：UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...

journal_title：European journal of pediatrics

authors： Matern D,Seydewitz H,Niederhoff H,Wiebusch H,Brandis M

更新日期：1996-08-01 00:00:00

abstract：:Two regimens of steroid treatment for the initial attack of idiopathic nephrotic syndrome (NS) in children were compared in a controlled prospective multi-centre study. Long prednisone therapy consisted of 60 mg/m2 per 24 h for 6 weeks, followed by alternate day 40 mg/m2 per 48 h for 6 weeks. The standard prednisone t...

journal_title：European journal of pediatrics

authors： Ehrich JH,Brodehl J

更新日期：1993-04-01 00:00:00

abstract：:Retraction Note to: Eur J Pediatr (1994) 153:668-671 DOI 10.1007/BF02190689. This article, "Adenosine triphosphate treatment for supraventricular tachycardia in infants", published in the European Journal of Pediatrics (1994) 153/9: 668-671, Springer-Verlag 1994, has been retracted at the request of the Publisher as i...

journal_title：European journal of pediatrics

authors：

更新日期：2015-11-01 00:00:00

abstract：UNLABELLED:Improved surgical care during the last decades, together with advances in medical management, led to a remarkable increase in survival of patients with congenital heart disease (CHD). However, aging of the CHD population brings new challenges, and loss of follow-up of adolescents and adults with CHD is a maj...

journal_title：European journal of pediatrics

authors： Moceri P,Goossens E,Hascoet S,Checler C,Bonello B,Ferrari E,Acar P,Fraisse A

更新日期：2015-07-01 00:00:00

abstract：:We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 c...

journal_title：European journal of pediatrics

authors： Chong LSH,Fitzgerald DA,Craig JC,Manera KE,Hanson CS,Celermajer D,Ayer J,Kasparian NA,Tong A

更新日期：2018-03-01 00:00:00

abstract：: ...

journal_title：European journal of pediatrics

authors： Sasidharan R,Gupta N,Chawla D

更新日期：2019-01-01 00:00:00

abstract：:Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was conf...

journal_title：European journal of pediatrics

authors： Koletzko S,Bürgin-Wolff A,Koletzko B,Knapp M,Burger W,Grüneklee D,Herz G,Ruch W,Thon A,Wendel U

更新日期：1988-11-01 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：: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：:The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...

journal_title：European journal of pediatrics

authors： Eyal O,Levin Y,Oren A,Zung A,Rachmiel M,Landau Z,Schachter-Davidov A,Segev-Becker A,Weintrob N

更新日期：2019-05-01 00:00:00

abstract：:The total height gain was studied in 19 adult male subjects with non-tumorous hypopituitarism after they had been treated with human growth hormone (hGH) for more than 3 years and achieved final adult height. In patients with a history of breech delivery or severe perinatal asphyxia, a high multiple correlation was fo...

journal_title：European journal of pediatrics

authors： Van den Broeck J,Vanderschueren-Lodeweyckx M,Eggermont E

更新日期：1988-04-01 00:00:00

abstract：:Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding ...

journal_title：European journal of pediatrics

authors： van Ommen CH,Peters M

更新日期：2012-01-01 00:00:00

abstract：UNLABELLED:This paper presents data obtained by questionnaires sent to local hospitals and metabolic centres in Germany, Austria, Italy and Switzerland concerning the survival and outcome of patients with urea cycle disorders treated between 1975 and 1986. A total of 130 questionnaires were sent out of which 88 questio...

journal_title：European journal of pediatrics

authors： Bachmann C

更新日期：2003-06-01 00:00:00

abstract：:Twin-to-twin transfusion (TTT) is a complication of monochorionic twins that may result in high mortality and morbidity. To better understand pathophysiology in TTT and the consequences for affected fetuses and neonates, we describe the clinical features of 19 consecutive pregnancies complicated by TTT over 5 years. T...

journal_title：European journal of pediatrics

authors： Chiang MC,Lien R,Chao AS,Chou YH,En Chen YJ

更新日期：2003-02-01 00:00:00

abstract：:We aimed to assess the prevalence and outcomes of esophageal perforation in very low birth weight infants. This retrospective cohort study utilized the US National Inpatient Sample dataset for the years 2000 to 2017. A total of 1,755,418 very low birth weight infants were included; of them, 861 (0.05%) were diagnosed ...

journal_title：European journal of pediatrics

authors： Elgendy MM,Othman H,Aly H

更新日期：2021-02-01 00:00:00