The Zellweger syndrome: subcellular pathology, neuropathology, and the demonstration of pneumocystis carinii pneumonitis in two siblings.

abstract：UNLABELLED:The symptoms of urinary tract infections in infants are very non-specific and have historically included prolonged hyperbilirubinaemia. We studied the results of routine urine samples in 319 infants with prolonged jaundice. Convincing findings of UTI was not found in any of these children even if one of them...

journal_title：European journal of pediatrics

authors： Chowdhury T,Kisat H,Tullus K

更新日期：2015-07-01 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：:By the description of two cases of osteoarticular infections due to Kingella kingae in two young children we wish to draw the attention of clinicians to invasive infections due to this micro-organism. Since its biological characterization in 1976, K. kingae has been increasingly reported as a human pathogen. Most comm...

journal_title：European journal of pediatrics

authors： Lacour M,Duarte M,Beutler A,Auckenthaler R,Suter S

更新日期：1991-07-01 00:00:00

abstract：:Physiotherapists, occupational therapists, and speech therapists play a key role in the treatment of children with epilepsy. We performed a survey of therapists' knowledge of and attitudes towards epilepsy in two regions of Germany, the city of Leipzig and the rural district of Zwickau. Therapists of 29/68 (43%) outpa...

journal_title：European journal of pediatrics

authors： Hackel K,Neininger MP,Kiess W,Bertsche T,Bertsche A

更新日期：2019-10-01 00:00:00

abstract：:A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of a...

journal_title：European journal of pediatrics

authors： Søvik O,Lie SO,Fluge G,Van Hoof F

更新日期：1980-12-01 00:00:00

abstract：:The development of visual acuity and stereopsis was studied in 321 boys and 340 girls aged between 5 and 10 years. Visual acuity was assessed by the E test and a modified version of the STYCAR test, stereo acuity by the Lang-Stereo test [17]. Both vision tests showed an increase in the median visual acuity between the...

journal_title：European journal of pediatrics

authors： Schmid M,Largo RH

更新日期：1986-12-01 00:00:00

abstract：UNLABELLED:We describe the case of a 6-year-old girl brought to the emergency department for the sudden onset of anticholinergic syndrome after the ingestion of a few home-made partially debittered lupine beans. She complained of blurry vision, headache, photophobia and nausea. No specific treatment was needed, and the...

journal_title：European journal of pediatrics

authors： Daverio M,Cavicchiolo ME,Grotto P,Lonati D,Cananzi M,Da Dalt L

更新日期：2014-12-01 00:00:00

abstract：:A case of subacute meningitis caused by Brucella mellitensis is described. The meningitis was refractory to an antibiotic regime. Diagnosis was established by raised antibody titres to Brucella in serum and cerebrospinal fluid (CSF) and positive bone marrow and blood cultures. While treatment with tetracycline trimeth...

journal_title：European journal of pediatrics

authors： Korman S,Srugo I,Tal Y,Jaffe M,Cahane Z,Wellish G

更新日期：1988-11-01 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：: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

abstract：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...

journal_title：European journal of pediatrics

authors： Valentini AL,De Gaetano AM,Destito C,Marino V,Minordi LM,Marano P

更新日期：2002-07-01 00:00:00

abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

journal_title：European journal of pediatrics

authors： Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

更新日期：2001-11-01 00:00:00

abstract：:Regional variations in the human leucocyte antigen (HLA) distribution patterns of coeliac disease (CD) have been reported. This study focuses on phenotype frequencies of a cohort of Austrian paediatric CD patients in comparison with those recorded in the literature. HLA class I and II typing was performed in 136 CD pa...

journal_title：European journal of pediatrics

authors： Winklhofer-Roob BM,Rossipal E,Lanzer G

更新日期：1991-08-01 00:00:00

abstract：:Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entiti...

journal_title：European journal of pediatrics

authors： Atabek ME,Pirgon O,Sert A,Esen HH

更新日期：2008-01-01 00:00:00

abstract：:When boys affected with steroid sulfatase deficiency are delivered, the lack of the enzyme in the placenta may cause birth complications. In postnatal life this gene defect gives rise to X-linked recessive ichthyosis. In a series of 25 patients birth complications were reported in 9 cases. Of these boys, 4 displayed b...

journal_title：European journal of pediatrics

authors： Traupe H,Happle R

更新日期：1983-03-01 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：BACKGROUND:We aimed to determine the status of and factors associated with adolescent health care delivery and training in Europe on behalf of the European Paediatric Association-UNEPSA. MATERIALS AND METHODS:A questionnaire was mailed to the presidents of 48 national paediatric societies in Europe. For statistical an...

journal_title：European journal of pediatrics

authors： Ercan O,Alikasifoglu M,Erginoz E,Janda J,Kabicek P,Rubino A,Constantopoulos A,Ilter O,Vural M

更新日期：2009-04-01 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：: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：UNLABELLED:A 15-year-old healthy girl ingested 38.25 g (0.55 g/kg body weight) of metformin in a suicide attempt. Subsequently she developed lactic acidosis and moderate renal failure. An initial session of haemodialysis was able to treat the acidosis and reduce the toxic level of metformin. Nevertheless, a further inc...

journal_title：European journal of pediatrics

authors： Lacher M,Hermanns-Clausen M,Haeffner K,Brandis M,Pohl M

更新日期：2005-06-01 00:00:00

abstract：:We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optim...

journal_title：European journal of pediatrics

authors： Tosson H,Rose SR,Gartner LA

更新日期：2012-03-01 00:00:00

abstract：:Although tobacco use has decreased in the general population in recent years, smoking remains high among subpopulations. This study examined whether sexual identity is associated with cigarette smoking and e-cigarette use among high school students. Data were drawn from the US Youth Risk Behavior Surveillance System (...

journal_title：European journal of pediatrics

authors： Azagba S,Latham K,Shan L

更新日期：2019-09-01 00:00:00

abstract：UNLABELLED:Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CC...

journal_title：European journal of pediatrics

authors： Morava E,Kárteszi J,Weisenbach J,Caliebe A,Mundlos S,Méhes K

更新日期：2002-11-01 00:00:00

abstract：:We have evaluated 46 patients with Turner syndrome by clinical examination, M-mode and two-dimensional echocardiography, dynamic exercise testing and 24 h Holter monitoring. Twelve patients (26.1%) had mitral valve prolapse and 7 patients (15.2%) had isolated non stenotic bicuspid aortic valve. Aortic root dilation wa...

journal_title：European journal of pediatrics

authors： Bastianon V,Pasquino AM,Giglioni E,Bosco G,Tebaldi L,Cives C,Colloridi V

更新日期：1989-04-01 00:00:00

abstract：:Piritramide is indicated for treatment of postoperative pain and analgosedation in the intensive care unit (ICU) setting. In an open prospective study the pharmacokinetics of piritramide were investigated in four groups: newborns (NB, age: 1-28 days) (n=8), infants 1 (IF1, age: 2-4 months) (n=7), infants 2 (IF2, age: ...

journal_title：European journal of pediatrics

authors： Müller C,Kremer W,Harlfinger S,Doroshyenko O,Jetter A,Hering F,Hünseler C,Roth B,Theisohn M

更新日期：2006-04-01 00:00:00

abstract：:In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especial...

journal_title：European journal of pediatrics

authors： Hendrickx G,Hoefsloot F,Kramer P,Van Haelst U

更新日期：1983-06-01 00:00:00

abstract：:Analysis of both the human and rat galactose-1-phosphate uridyltransferase (GALT) genes reveal 5' regulatory consensus sequences suggestive of a housekeeping gene. This is in accord with the finding of GALT activity in all tissues. However, the complications seen in galactosemia, in particular ovarian dysfunction and ...

journal_title：European journal of pediatrics

authors： Heidenreich RA

更新日期：1995-01-01 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：:A 2-month-old infant was admitted to hospital because of recurrent vomiting for 1 week, progressive apathy, and focal seizures. The cranial MRI showed a noticeable result. ...

journal_title：European journal of pediatrics

authors： Larsen A,Martin C,Meyer S,Rohrer T,Papanagiotou P,van der Knaap M,Gortner L

更新日期：2012-06-01 00:00:00

abstract：UNLABELLED:To determine bilirubin-induced neurotoxicity, serial visual evoked potentials (VEPs) of 72 infants with neonatal hyperbilirubinaemia and 22 controls were evaluated and compared in four sessions for 8 weeks after birth. The levels of maximal serum bilirubin were found positively related to the wave latencies ...

journal_title：European journal of pediatrics

authors： Chen YJ,Kang WM

更新日期：1995-08-01 00:00:00