Male pseudohermaphroditism due to 5 alpha-reductase deficiency in a Swedish family.

abstract：UNLABELLED:We investigated the histological and molecular characteristics of pulmonary alveolar proteinosis (PAP) in two siblings (a brother and sister) who did not exhibit respiratory distress at birth but who each developed symptoms during infancy. Histological analysis of lung specimens showed positive staining for ...

journal_title：European journal of pediatrics

authors： Sakai Y,Abo W,Yoshimura H,Sano H,Kuroki Y,Satoh M,Kaimori M

更新日期：1999-05-01 00:00:00

abstract：UNLABELLED:To monitor infant care practices associated with risks for sudden infant death, 400 Belgian families with infants less than 6 months old were questioned by 21 paediatricians during routine visits to local paediatric practices and well baby services (11 in urban centres, 10 in rural areas). Because of incompl...

journal_title：European journal of pediatrics

authors： Kahn A,Bauche P,Groswasser J,Dramaix M,Scaillet S,Working Group, Groupe Belge de Pediatres Francophones.

更新日期：2001-08-01 00:00:00

abstract：INTRODUCTION:Impaired vitamin K status in cystic fibrosis (CF) has been considered as a newly emerged pathogenetic factor for reduced bone mineral density (BMD). OBJECTIVES:Our aim was to evaluate the effectiveness of vitamin K supplementation in managing bone formation abnormalities in children and adolescents with C...

journal_title：European journal of pediatrics

authors： Nicolaidou P,Stavrinadis I,Loukou I,Papadopoulou A,Georgouli H,Douros K,Priftis KN,Gourgiotis D,Matsinos YG,Doudounakis S

更新日期：2006-08-01 00:00:00

abstract：UNLABELLED:Growth hormone (GH) secretion was determined by evaluating circadian GH profiles for 24 h and GH responses to clonidine stimulation test and insulin-stimulated hypoglycaemia (ITT), in nine prepubertal children with beta-thalassaemia major (TM) and 17 with non-GH deficient short stature (NGHDSS). The TM child...

journal_title：European journal of pediatrics

authors： Katzos G,Harsoulis F,Papadopoulou M,Athanasiou M,Sava K

更新日期：1995-06-01 00:00:00

abstract：:No previous studies have focused on postoperative fat malabsorption in children with choledochal cyst (CC) who undergo cyst excision and Roux-en-Y (RY) hepatico-jejunostomy (HJ), a combination of procedures that can lead to the non-physiological mixture of food and bile juice. To examine the effect of RYHJ with cholec...

journal_title：European journal of pediatrics

authors： Suzuki M,Tanaka K,Ohtani K,Kitamura K,Kudo T,Shoji H,Suzuki R,Shimizu T

更新日期：2009-01-01 00:00:00

abstract：UNLABELLED:Human parechoviruses (HPeV) have been recently recognized as important viral agents in paediatric infections. The aims of this study were to investigate the HPeV infection prevalence in infants <1 month in Spain and, secondly, to analyse the clinical and epidemiological characteristics of the infected patien...

journal_title：European journal of pediatrics

authors： Cabrerizo M,Trallero G,Pena MJ,Cilla A,Megias G,Muñoz-Almagro C,Del Amo E,Roda D,Mensalvas AI,Moreno-Docón A,García-Costa J,Rabella N,Omeñaca M,Romero MP,Sanbonmatsu-Gámez S,Pérez-Ruiz M,Santos-Muñoz MJ,Calvo C,study

更新日期：2015-11-01 00:00:00

abstract：:L-asparaginase is an effective antileukaemic drug and a potent inhibitor of hepatic protein synthesis. Its effect on lipid metabolism was studied in two cohorts of children with ALL, one of whom received L-asparaginase concomitantly with three other drugs (protocol BFM 79). In the second protocol (BFM 83) administrati...

journal_title：European journal of pediatrics

authors： Cremer P,Lakomek M,Beck W,Prindull G

更新日期：1988-01-01 00:00:00

abstract：:Rasmussen's syndrome (RS) is a rare acquired progressive inflammatory encephalopathy characterized by drug-resistant partial seizures and cognitive deterioration resulting from a gradual impairment and a subsequent atrophy of a single brain hemisphere. It was firstly described by Theodore Rasmussen in 1958. The origin...

journal_title：European journal of pediatrics

authors： Mastrangelo M,Mariani R,Menichella A

更新日期：2010-08-01 00:00:00

abstract：:Recombinant interleukin 2 (rIL2) was administered to a patient with Wiskott-Aldrich syndrome for the treatment of an intractable facial herpetiform lesion. This treatment appeared to be effective in suppressing the virus activity. At the same time, a transient improvement of the chronic eczematoid dermatitis was obser...

journal_title：European journal of pediatrics

authors： Azuma H,Sakata H,Saijyou M,Okuno A

更新日期：1993-12-01 00:00:00

abstract：UNLABELLED:We studied the clinical and biochemical factors associated with surfactant dysfunction and factors affecting the responsiveness to exogenous surfactant among 27 neonates with haemorrhagic pulmonary oedema (HPE). HPE was defined as the presence of a large amount of blood-stained lung effluent and respiratory ...

journal_title：European journal of pediatrics

authors： Amizuka T,Shimizu H,Niida Y,Ogawa Y

更新日期：2003-10-01 00:00:00

abstract：:Diagnosis of immunoglobulin deficiency with increased IgM (hyper-IgM syndrome) was made in three siblings (two girls and a boy) on the basis of history, physical findings, and laboratory data. The prominent clinical findings were recurrent viral and bacterial infections of the respiratory tract. The most severe infect...

journal_title：European journal of pediatrics

authors： Maródi L,Szabó I,Kalmár A

更新日期：1988-12-01 00:00:00

abstract：:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...

journal_title：European journal of pediatrics

authors： Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KP

更新日期：1991-07-01 00:00:00

abstract：:We report two Chinese boys with Wiskott-Aldrich syndrome presenting with gastro-intestinal bleeding, eczema and recurrent infection. They had thrombocytopenia and the mean platelet volume was small. Serum IgG and IgA were elevated and lymphocyte proliferation in response to phytohaemagglutinin, concanavalin A and poke...

journal_title：European journal of pediatrics

authors： Lau YL,Jones BM,Low LC,Wong SN,Leung NK

更新日期：1992-09-01 00:00:00

abstract：:Paraneoplastic manifestations are signs and symptoms observed in patients with cancer, distant from the tumour or its metastases and not caused by invasion, obstruction or bulk mass. In children with cancer, paraneoplastic manifestations are rare and distinct from those observed in adults. Knowledge about paraneoplast...

journal_title：European journal of pediatrics

authors： de Graaf JH,Tamminga RY,Kamps WA

更新日期：1994-11-01 00:00:00

abstract：UNLABELLED:It has been suggested that chronic treatment with L-thyroxine (L-T4) could be implicated in reducing bone mineral density (BMD). The purpose of this longitudinal study was to determine whether appendicular and axial BMD is decreased by L-T4 treatment in adolescent girls. Thirteen adolescent girls with subcli...

journal_title：European journal of pediatrics

authors： Saggese G,Bertelloni S,Baroncelli GI,Costa S,Ceccarelli C

更新日期：1996-06-01 00:00:00

abstract：:In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...

journal_title：European journal of pediatrics

authors： Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GC

更新日期：2008-12-01 00:00:00

abstract：:The objectives of this study were to determine if any specific clinical signs, symptoms, or comorbidities could reliably predict underlying feeding difficulty and need for further evaluation (i.e., video swallow study, VSS) in infants with Down syndrome, to establish the prevalence of gastrostomy tube placement (G-tub...

journal_title：European journal of pediatrics

authors： Poskanzer SA,Hobensack VL,Ciciora SL,Santoro SL

更新日期：2020-06-01 00:00:00

abstract：:In a German pediatric oncology unit, the attending physicians diagnosed 27 cases of Clostridium difficile-associated disease (CDI) from January 01, 2010 to October 31, 2013. This refers to a CDI incidence density of 2.0/1000 inpatient days. According to the hospital hygiene standard, symptomatic patients with CDI were...

journal_title：European journal of pediatrics

authors： Simon A,Mock M,Graf N,von Müller L

更新日期：2018-03-01 00:00:00

abstract：:The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40 ml/min per 1.73 m2 surface area. The reduction in glomeru...

journal_title：European journal of pediatrics

authors： Walter JH,Michalski A,Wilson WM,Leonard JV,Barratt TM,Dillon MJ

更新日期：1989-01-01 00:00:00

abstract：:The effects of perinatal problems on red cell phosphate metabolism were studied in two groups of infants (preterms B and fullterms D) during the first month of life. All infants started milk feeding from day three after birth. The results were compared to those of healthy preterms (A) and fullterms (C), respectively. ...

journal_title：European journal of pediatrics

authors： Cholevas V,Challa A,Lapatsanis PD,Andronikou S

更新日期：2008-02-01 00:00:00

abstract：:A developmental approach to the management of sleep disturbances was successful in 85% (44/52) of the children (aged 2-36 months) within 2-6 weeks. No drugs were used. The approach was based on the following two principles: taking into account the characteristics of sleep behavior in infants and young children by sett...

journal_title：European journal of pediatrics

authors： Largo RH,Hunziker UA

更新日期：1984-08-01 00:00:00

abstract：:Growth in height of 16 patients (5 boys and 11 girls) with hypophosphataemic rickets (HR) was studied in a longitudinal survey. The data shortly before and during puberty were analysed on the basis of Preece Baines curves, fitted to the original data; for the analysis at the age of 5 years, the original data were used...

journal_title：European journal of pediatrics

authors： Steendijk R,Hauspie RC

更新日期：1992-06-01 00:00:00

abstract：UNLABELLED:Children's right to access safe and effective medicines is recognised globally. Ethanol, used in paediatric liquid formulations as a solvent and preservative, is associated with safety concerns with respect to both acute ingestion and chronic exposure. In addition, families may have cultural or religious val...

journal_title：European journal of pediatrics

authors： Svirskis D,Toh M,Ram S

更新日期：2013-07-01 00:00:00

abstract：:There is evidence pointing to a decrease of the glomerular filtration rate (GFR) in a subgroup of nephrotic children, likely secondary to hypovolemia. The aim of this study is to validate the use of urinary potassium to the sum of potassium plus sodium ratio (UK/UK+UNa) as an indicator of hypovolemia in nephrotic synd...

journal_title：European journal of pediatrics

authors： Keenswijk W,Ilias MI,Raes A,Donckerwolcke R,Walle JV

更新日期：2018-01-01 00:00:00

abstract：:Necrotizing enterocolitis (NEC) is usually considered to be a neonatal disease, and is rarely described beyond the newborn period. During the last 15 years, 19 infants from the Negev region, Israel, with NEC were beyond the neonatal age group (range = 34-616 days, median = 90 days). Of this group only 16% were born pr...

journal_title：European journal of pediatrics

authors： Dagan R,Ben-Yacov O,Mares AJ,Moses SW,Bar-Ziv J

更新日期：1984-04-01 00:00:00

abstract：:A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia. ...

journal_title：European journal of pediatrics

authors： Drummond D,Lenoir M,Petit AY

更新日期：2012-07-01 00:00:00

abstract：:A desquamative, interstitial pneumonitis was diagnosed histologically in a 9-month-old boy who first became ill at the age of 5 weeks. The desquamative interstitial pneumonitis was associated with an acquired cytomegalovirus (CMV) infection. Despite treatment with corticoids, acyclovir and artificial ventilation, the ...

journal_title：European journal of pediatrics

authors： Schneider K,Brünstler I,Vogel H,Fendel H,Remberger K

更新日期：1986-12-01 00:00:00

abstract：:Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dysplasia, exocrine pancreatic insufficiency and bone marrow failure. Various other conditions, such as hepatopathy and failure to thrive have been associated with SDS. A retrospective study was conducted to describe mutation...

journal_title：European journal of pediatrics

authors： Schaballie H,Renard M,Vermylen C,Scheers I,Revencu N,Regal L,Cassiman D,Sevenants L,Hoffman I,Corveleyn A,Bordon V,Haerynck F,Allegaert K,De Boeck K,Roskams T,Boeckx N,Bossuyt X,Meyts I

更新日期：2013-05-01 00:00:00

abstract：:Pulmonary arterial hypertension is characterised by the presence of pulmonary hypertension (mean pulmonary artery pressure >25 mmHg at rest or >30 mmHg during exercise ) and normal pulmonary wedge pressure (<12 mmHg). Several risk factors for pulmonary arterial hypertension have been described. In the absence of any f...

journal_title：European journal of pediatrics

authors： Humbert M,Labrune P,Simonneau G

更新日期：2002-10-01 00:00:00

abstract：:Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset ad...

journal_title：European journal of pediatrics

authors： Yang F,Hanaki K,Kinoshita T,Kawashima Y,Nagaishi J,Kanzaki S

更新日期：2009-03-01 00:00:00