Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.

abstract：UNLABELLED:Traditionally, cystic fibrosis (CF) is diagnosed either by measuring sweat electrolyte levels or by screening for mutations using genomic DNA isolated from leucocytes. The aim of this work was to develop a modified fast and non-invasive tool for the collection of cell samples and the genetic analysis of the ...

journal_title：European journal of pediatrics

authors： Bennett LC,Kraemer R,Liechti-Gallati S

更新日期：2000-01-01 00:00:00

abstract：UNLABELLED:Congenital hydrocephalus is a serious condition that can arise from multiple causes. It comprises a diverse group of conditions which result in impaired circulation and absorption of cerebrospinal fluid. Congenital malformations of the central nervous system, infections, haemorrhage, trauma, teratogens and, ...

journal_title：European journal of pediatrics

authors： Schrander-Stumpel C,Fryns JP

更新日期：1998-05-01 00:00:00

abstract：:We evaluated chronic kidney disease (CKD) (proteinuria or estimated glomerular filtration rate < 60 mL/min/1.73 m2) or hypertension prevalence in 110 children with juvenile idiopathic arthritis (JIA). CKD and hypertension were clustered under the umbrella term of "renal injury". Median age at the last visit was 14 yea...

journal_title：European journal of pediatrics

authors： Gicchino MF,Di Sessa A,Guarino S,Miraglia Del Giudice E,Olivieri AN,Marzuillo P

更新日期：2021-02-01 00:00:00

abstract：:Children's feet are complex structures and strategies for supporting good foot health throughout childhood can be challenging. Greater awareness of the contemporary factors influencing decisions, such as footwear purchases, is needed to inform health narratives which are more closely aligned to parents' attitude and b...

journal_title：European journal of pediatrics

authors： Hodgson L,Hodges M,Williams AE,Nester CJ,Morrison SC

更新日期：2021-01-15 00:00:00

abstract：:The calorie intake and weight gain of 24 low birth weight (LBW) infants, less than 33 weeks gestation and less than 1500 g birth weight, was studied prospectively. Fourteen infants were fed on a commercially available LBW formula milk and ten were fed on their own mother's fresh unpasteurised expressed breast milk (EB...

journal_title：European journal of pediatrics

authors： Hendrickse WA,Spencer SA,Roberton DM,Hull D

更新日期：1984-11-01 00:00:00

abstract：:Blunt cardiac injury may occur in patients after suffering nonpenetrating trauma of the chest. It encompasses a wide spectrum of cardiac injury with varied severity and clinical presentation. Electrocardiographic abnormalities are frequently encountered. This article presents a case of a child who presented with compl...

journal_title：European journal of pediatrics

authors： Udink ten Cate FE,van Heerde M,Rammeloo LA,Hruda J

更新日期：2008-11-01 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：:Systemic juvenile idiopathic arthritis (sJIA) is an inflammatory cytokine-related disorder associated with overproduction of interleukin (IL)-6, IL-1β, and IL-18. Macrophage activation syndrome (MAS) is a critical and lethal complication of sJIA. Therefore, prompt induction of remission in the active phase of sJIA is ...

journal_title：European journal of pediatrics

authors： Miyazono A,Abe J,Ogura M,Sato M,Fujimaru T,Kamei K,Ito S

更新日期：2014-12-01 00:00:00

abstract：UNLABELLED:In very low birth weight (VLBW) infants, colloid infusion is associated with impaired perinatal lung function and increased oxygen dependency duration. The aim of this study was to determine whether perinatal colloid infusion was associated with abnormal neurodevelopmental outcome. All perinatal fluid input ...

journal_title：European journal of pediatrics

authors： Greenough A,Cheeseman P,Kavvadia V,Dimitriou G,Morton M

更新日期：2002-06-01 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：: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 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findi...

journal_title：European journal of pediatrics

authors： Caramia GM,Baroncini A,Osimani P,Forabosco A

更新日期：1990-04-01 00:00:00

abstract：UNLABELLED:The phenotypes of chromosomal 22q11.2 microdeletion are quite variable among individuals and hypoparathyroidism (HP) constitutes a definite portion of the clinical spectrum. For the correct diagnosis and pertinent follow up of the HP children due to del22q11.2, we tried to delineate the clinical characterist...

journal_title：European journal of pediatrics

authors： Adachi M,Tachibana K,Masuno M,Makita Y,Maesaka H,Okada T,Hizukuri K,Imaizumi K,Kuroki Y,Kurahashi H,Suwa S

更新日期：1998-01-01 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：:Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...

journal_title：European journal of pediatrics

authors： Jaggi P,Dale JB,Chiang E,Beniwal P,Kabat W,Shulman ST

更新日期：2009-06-01 00:00:00

abstract：:All 270 patients presenting with Henoch-Schönlein Purpura over a 13-year period from a total childhood population of 155,000 were studied. This is an incidence of 13.5/100,000 children per year. Fifty-five (20%) were found to have initial evidence of renal involvement, and were re-examined at a mean of 8.3 years later...

journal_title：European journal of pediatrics

authors： Stewart M,Savage JM,Bell B,McCord B

更新日期：1988-02-01 00:00:00

abstract：BACKGROUND:The treatment of complicated urinary tract infection in children is still a matter of debate. In our hospital, antimicrobial treatment is initiated intravenously, and the duration of this treatment is adapted according to the results of a Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy. AIM:This study wa...

journal_title：European journal of pediatrics

authors： Ferreiro C,Piepsz A,Nogarède C,Tondeur M,Hainaut M,Levy J

更新日期：2013-09-01 00:00:00

abstract：:Respiratory and arousal responses to mild hypoxia (15% oxygen in nitrogen) were recorded in 18 healthy infants and 33 infants who had sustained severe sleep related apnoeic events (ALTE). Respiratory movements and transcutaneous gas pressures (tcPO2 and tcPCO2) were continuously monitored during the 10 min test. The c...

journal_title：European journal of pediatrics

authors： Milerad J,Hertzberg T,Wennergren G,Lagercrantz H

更新日期：1989-04-01 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：: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:The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill...

journal_title：European journal of pediatrics

authors： Musebeck J,Mohnike K,Beye P,Tönnies H,Neitzel H,Schnabel D,Grüters A,Wieacker PF,Stumm M

更新日期：2001-09-01 00:00:00

abstract：:One hundred and twenty two cases of severe hyaline membrane disease are reported. 68 of them survived (57%). Adverse clinical, radiological and laboratory factors, and their effects on the early mortality rate, are analysed with particular reference to the referring centers, delay in admission, transport and the criti...

journal_title：European journal of pediatrics

authors： Goenen M,Ninane J,Ducoffre B,Declerck Y,Claus D,Ferriere G,Thomas-van Moerbeke RM,Moulin D,De Meyer R,Tremouroux J

更新日期：1978-03-13 00:00:00

abstract：:We evaluated, both in toilet-trained and not-toilet-trained children, the impact of cleaning the genital area with plain water on the false positive rate at urine dipstick, and evaluated which factors could be associated to falsely positive findings. We prospectively enrolled 612 patients consecutively attending our n...

journal_title：European journal of pediatrics

authors： Marzuillo P,Guarino S,Furlan D,Pecoraro A,Pedullà M,Miraglia Del Giudice E,La Manna A

更新日期：2018-10-01 00:00:00

abstract：:Three sibs with an inherited form of male pseudohermaphroditism are described. They were all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was made during childhood. First seen at the ages of 16, 14 and 10 years respectively, they were investigated in order to establish the pathog...

journal_title：European journal of pediatrics

authors： Ivarsson SA,Nielsen MD,Lindberg T

更新日期：1988-06-01 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：:A 10-month-old infant is described who suffered from extensive atopic dermatitis, failure to thrive, hypoalbuminaemia and oedema. Large amounts of sticky exudate were lost through the skin and were shown to be rich in albumin. As renal and intestinal loss of protein was excluded, the patient's condition was ascribed t...

journal_title：European journal of pediatrics

authors： Abrahamov A,Schifmann R,Goldstein R,Tal Y,Freier S

更新日期：1986-08-01 00:00:00

abstract：:Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...

journal_title：European journal of pediatrics

authors： Leung AK,Hoo JJ

更新日期：1986-02-01 00:00:00

abstract：:Renal tubular dysgenesis is a critical disorder characterized by the Potter phenotype and severe hypotension in the early neonatal period. We herein report a 3-year-old female with renal tubular dysgenesis. Endocrinological studies showed a high plasma renin activity (over 49.2 ng/ml/h; normal range 2.0-15.2), high ac...

journal_title：European journal of pediatrics

authors： Uematsu M,Sakamoto O,Ohura T,Shimizu N,Satomura K,Tsuchiya S

更新日期：2009-02-01 00:00:00

abstract：INTRODUCTION:Reduced concentrations of glucose-6-phospate dehydrogenase (G6PD) render erythrocytes susceptible to hemolysis under conditions of oxidative stress. In favism, the ingestion of fava beans induces an oxidative stress to erythrocytes, leading to acute hemolysis. DISCUSSION:The simultaneous occurrence of met...

journal_title：European journal of pediatrics

authors： Schuurman M,van Waardenburg D,Da Costa J,Niemarkt H,Leroy P

更新日期：2009-07-01 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