Fucosidosis: severe phenotype with survival to adult age.

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：:Chest radiographs from children with community-acquired pneumonia (CAP) were categorized into three distinct presentations and each presentation was correlated to clinical and laboratory findings. Children < 59 months with CAP presenting to pediatric emergency rooms during two years were enrolled prospectively in eigh...

journal_title：European journal of pediatrics

authors： Falup-Pecurariu OG,Diez-Domingo J,Esposito S,Finn A,Rodrigues F,Spoulou V,Syrogiannopoulos GA,Usonis V,Greenberg D,CAP-PRI.

更新日期：2018-07-01 00:00:00

abstract：:Twenty-six children with cerebral palsy were examined with respect to structural asymmetry of the mouth. In 19 children there were clear cut correlations between symmetry/asymmetry of voluntary function and the oral findings. Patients with symmetrical patterns of movements had symmetrical dentition, while in those wit...

journal_title：European journal of pediatrics

authors： Haberfellner H,Richter M

更新日期：1980-12-01 00:00:00

abstract：UNLABELLED:To test the hypothesis that the administration of L -5-hydroxytryptophan (L -5-HTP) might exert beneficial effects on sleep terrors, we carried out an open pharmacological trial in a group of children with sleep terrors compared to a group of children with the same disorder but without L -5-HTP treatment. Pa...

journal_title：European journal of pediatrics

authors： Bruni O,Ferri R,Miano S,Verrillo E

更新日期：2004-07-01 00:00:00

abstract：UNLABELLED:In neonates with pulmonary atresia and intact ventricular septum the aims of therapy are maintenance of pulmonary blood flow and right ventricular decompression in order to achieve right ventricular support of the pulmonary circulation. Recent developments in interventional heart catheterization with pulmona...

journal_title：European journal of pediatrics

authors： Bökenkamp R,Kaulitz R,Paul T,Hausdorf G

更新日期：1998-11-01 00:00:00

abstract：:The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann ty...

journal_title：European journal of pediatrics

authors： Tolksdorf M,Kunze J,Gross-Selbeck G,Sperling K,Wegner RD,Wieczorek V,Vogel M

更新日期：1977-08-23 00:00:00

abstract：:Of 496 neonates and infants less than 1 year of age admitted to the paediatric surgical intensive care unit (PSICU) over a 5 year period (1983-1987), 94 required total parenteral nutrition (TPN) for more than 14 consecutive days, generally due to congenital anomalies of the digestive tract. Cholestasis occurred in 15 ...

journal_title：European journal of pediatrics

authors： Bos AP,Tibboel D,Hazebroek FW,Bergmeijer JH,van Kalsbeek EJ,Molenaar JC

更新日期：1990-02-01 00:00:00

abstract：:The etiology of asthma includes lifestyle factors. Breastfeeding and introduction of complementary foods have been suggested to affect asthma risk, but the scientific foundation is not solid. Children from the birth cohort All Babies In Southeast Sweden study were included (n = 9727). Breastfeeding duration and timing...

journal_title：European journal of pediatrics

authors： Klingberg S,Brekke HK,Ludvigsson J

更新日期：2019-03-01 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：:Henoch-Schonlein purpura (HSP) is an inflammatory vasculitis involving the skin, joints, gastrointestinal (GI) tract, and kidneys. This is the first case report describing a 5-year-old girl with HSP presenting duodenal involvement which might be associated with superior mesenteric artery syndrome (SMAS). ...

journal_title：European journal of pediatrics

authors： Harada T,Machida H,Ito S,Aihara Y,Yokota S

更新日期：2007-05-01 00:00:00

abstract：:Medical clowns have an important role in helping patients cope with their pain and distress. This is especially true in the pediatric population. However, their activity in a disaster area is unheard of. Following the Nepal earthquake in 2015, the Israeli field hospital set up in Kathmandu, Nepal was joined by five vo...

journal_title：European journal of pediatrics

authors： Ilan U,Davidov A,Mendlovic J,Weiser G

更新日期：2018-02-01 00:00:00

abstract：:Polyarteritis nodosa (PAN) is a non-frequent vasculitis of small- and medium-sized vessels. Psoriatic arthritis (PA) is described as a "unique inflammatory arthritis associated with psoriasis" with an inexact prevalence rate due to the lack of widely accepted classification criteria. We describe the case of an 11-year...

journal_title：European journal of pediatrics

authors： Oulego-Erroz I,Gautreaux-Minaya S,Martinez-Sáenz de Jubera J,Naranjo-Vivas D,Fernéndez-Hernández S,Muñíz-Fontán M

更新日期：2011-09-01 00:00:00

abstract：:Estimation of the total number of infants with DS born each year in Belgium allows evaluation of changes in the proportion of children with DS in whom a karyotype has been established. This proportion steadily increased to 95% of the children with DS born in 1978. ...

journal_title：European journal of pediatrics

authors： Evers-Kiebooms G,Vlietinck R,van den Berghe H

更新日期：1985-03-01 00:00:00

abstract：:A female patient with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency developed normally until 13 months of age after which she showed a gradual developmental delay, followed by progressive dementia, and a decrease in head circumference growth culminating in the diagnosis of Rett syndrome at 3.5 years. ...

journal_title：European journal of pediatrics

authors： Beekman RP,Hofstee N,Smeitink JA,Poll-The BT,Duran M

更新日期：1994-04-01 00:00:00

abstract：:Serum immunoglobulin levels and naturally occurring antibody titres against Streptococcus pneumoniae were measured in seven children aged 1-1.9 years with recurrent pneumococcal acute otitis media (AOM). Three of them had low IgG2 levels. Mean antibody levels of anti-pneumococcal IgG1 and anti-pneumococcal IgG2 were s...

journal_title：European journal of pediatrics

authors： Ishizaka A,Sakiyama Y,Otsu M,Ozutsumi K,Matsumoto S

更新日期：1994-03-01 00:00:00

abstract：:Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We re...

journal_title：European journal of pediatrics

authors： Khalifa O,Imtiaz F,Al-Sakati N,Al-Manea K,Verloes A,Al-Owain M

更新日期：2011-01-01 00:00:00

abstract：UNLABELLED:Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic attacks of fever and serositis. Recent genetic and epidemiological research have highlighted the importance of this disease. FMF is the most frequent periodic fever syndrome and is transmitted in an autosomal recessi...

journal_title：European journal of pediatrics

authors： Ozen S

更新日期：2003-07-01 00:00:00

abstract：:A 10-year-old boy with chyluria due to a congenital fistulous communication between the lymphatic system and the bladder is described. Chyluria can be parasitic or non-parasitic. Many causes of non-parasitic chyluria have been reported. Lymphography is the preoperative imaging procedure of choice since it demonstrates...

journal_title：European journal of pediatrics

authors： Stalens JP,Falk M,Howmann-Giles R,Roy LP

更新日期：1992-01-01 00:00:00

abstract：:Separate glomerular filtration rates were evaluated in 21 children with uni- or bilateral ureteropelvic junction stenosis, using the Tc-99m DTPA complex and the scintillation camera. The grade of alteration seen on urograms has influenced the surgeon in his decision to use a conservative or a surgical treatment, where...

journal_title：European journal of pediatrics

authors： Piepsz A,Hall M,Ham HR,Perlmutter N,Collier F

更新日期：1986-08-01 00:00:00

abstract：:Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are ...

journal_title：European journal of pediatrics

authors： Albash B,Imtiaz F,Al-Zaidan H,Al-Manea H,Banemai M,Allam R,Al-Suheel A,Al-Owain M

更新日期：2014-05-01 00:00:00

abstract：:We evaluated the diagnostic significance of single versus repeated human chorionic gonadotropin (hCG) stimulation of testicular steroidogenesis in 25 boys (10 prepubertal group A; 15 early pubertal, group B) with suspected hypogonadism. All subjects received a single injection of hCG (5000 U/1.7 m2) and 1 month later,...

journal_title：European journal of pediatrics

authors： Kauschansky A,Frydman M,Nussinovitch M,Varsano I

更新日期：1995-11-01 00:00:00

abstract：:Malignant thymoma was found in an 8-year-old Japanese boy with growth hormone (GH) deficiency who had received GH therapy for 3 years and 5 months. There may be a possible relationship between the occurrence of malignant thymoma and GH therapy. ...

journal_title：European journal of pediatrics

authors： Hasegawa T,Hasegawa Y,Koto S,Aso T,Tsuchiya Y,Hayashi A,Ishida H,Morikawa Y

更新日期：1993-10-01 00:00:00

abstract：UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...

journal_title：European journal of pediatrics

authors： Schoetzau A,Gehring U,Wichmann HE

更新日期：2001-06-01 00:00:00

abstract：:Type I collagen is the major component of bone matrix; circulating carboxyterminal propeptide of type I procollagen (P-I-CP) levels reflect type I collagen synthesis in tissues and may be an useful index to investigate bone metabolism. We measured P-I-CP by a new radioimmunoassay in 300 healthy children and adolescent...

journal_title：European journal of pediatrics

authors： Saggese G,Bertelloni S,Baroncelli GI,Di Nero G

更新日期：1992-10-01 00:00:00

abstract：:The peak flow velocities in the middle cerebral artery were continuously recorded by transcranial Doppler sonography in 29 children. Arterial blood pressure and heart rates were measured every minute. The values observed during orthostasis and physical exercise were compared to baseline values obtained in the supine p...

journal_title：European journal of pediatrics

authors： Bode H

更新日期：1991-08-01 00:00:00

abstract：:We aimed to determine whether precocious adrenarche (PA) has a different impact on screening tests for metabolic issues and pubertal timing in boys and girls born appropriate for gestational age (AGA). Puberty and initial metabolic screening results of 47 girls and 23 boys with PA born AGA followed up from our outpati...

journal_title：European journal of pediatrics

authors： Uçar A,Saka N,Baş F,Bundak R,Günöz H,Darendeliler F

更新日期：2012-11-01 00:00:00

abstract：UNLABELLED:Portal vein thrombosis is a rare but potentially lethal complication in children requiring splenectomy. We report on a 15-year-old boy with a dehydrated hereditary stomatocytosis, who underwent splenectomy and presented a postoperative partial portal vein thrombosis. With prompt heparin therapy, neither prop...

journal_title：European journal of pediatrics

authors： Perel Y,Dhermy D,Carrere A,Chateil JF,Bondonny JM,Micheau M,Barbier R

更新日期：1999-08-01 00:00:00

abstract：:A 4-month-old male infant was seen because of an asymptomatic undescended left testis and a right sided abdominal mass. CT revealed a calcified retroperitoneal tumour. Histological examination of surgical specimens showed a mature primary teratoma of the contralateral undescended testis. While this is very rare, infan...

journal_title：European journal of pediatrics

authors： Azumagawa K,Mimaki T,Tanoue H,Mino M

更新日期：1993-11-01 00:00:00

abstract：:We report a patient with the characteristic features of the brittle cornea syndrome, a rare, autosomal recessively inherited disorder, namely brittle corneae, blue sclerae, and red hair. The patient also showed joint hyperextensibility, a soft skin, and dysplastic auricles with unusually soft cartilage. Phenotypically...

journal_title：European journal of pediatrics

authors： Royce PM,Steinmann B,Vogel A,Steinhorst U,Kohlschuetter A

更新日期：1990-04-01 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