Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

abstract：:A case of lithium intoxication in the newborn is presented. Besides displaying extreme hypotonia and a goitre, the infant developed symptoms of congenital heart disease immediately after birth. Cardiac catheterization and angiocardiography revealed an elevated pulmonary vascular resistance and indicated that the cardi...

journal_title：European journal of pediatrics

authors： Filtenborg JA

更新日期：1982-07-01 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：UNLABELLED:Papillomas of the genital region are rare benign tumours causing sanguineous vaginal discharge in prepubertal girls. We report on a papilloma of the cervix in a 2-year-old girl. We characterize the tumour immunohistochemically and give a brief review about the current literature. CONCLUSION:Genital tract pa...

journal_title：European journal of pediatrics

authors： Schmedding A,Zense M,Fuchs J,Glüer S

更新日期：1997-04-01 00:00:00

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:Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found...

journal_title：European journal of pediatrics

authors： Kuijpers GM,De Vroede M,Knol HE,Jansen M

更新日期：1999-06-01 00:00:00

abstract：:We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...

journal_title：European journal of pediatrics

authors： Chan WK,Chang KO,Lau WH

更新日期：2017-08-01 00:00:00

abstract：:An immunocompetent 9-year-old boy with disseminated cat scratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies to Rochalimaea quintana and R. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion...

journal_title：European journal of pediatrics

authors： Waldvogel K,Regnery RL,Anderson BE,Caduff R,Caduff J,Nadal D

更新日期：1994-01-01 00:00:00

abstract：:We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate...

journal_title：European journal of pediatrics

authors： Kunze J,Oldigs HD,Tolksdorf M

更新日期：1976-09-01 00:00:00

abstract：UNLABELLED:In a national prospective study of risk factors for mother-to-child transmission of human immunodeficiency virus (HIV), 316 children of HIV-positive mothers were followed up for at least 6 months. Infection status was determined in 254 of them and 46 were found to be infected giving a transmission rate of 18...

journal_title：European journal of pediatrics

authors： Kind C

更新日期：1995-07-01 00:00:00

abstract：UNLABELLED:Coronary artery disease (CAD) is a major cause of death in patients with insulin-dependent diabetes mellitus. Qualitative changes in low density lipoprotein (LDL) and high density lipoprotein (HDL) are thought to be important for evaluating the risk for CAD. In the present study, we evaluated LDL particle si...

journal_title：European journal of pediatrics

authors： Ohta T,Nishiyama S,Nakamura T,Saku K,Maung KK,Matsuda I

更新日期：1998-04-01 00:00:00

abstract：:One year's experience in screening for congenital hypothyroidism in Greece is reported. Thyroid stimulating hormone (TSH) determination by a radioimmunoassay on dried blood spots was selected as the screening method. During the first year of screening 75,879 newborn infants were tested from Guthrie blood spots taken o...

journal_title：European journal of pediatrics

authors： Mengreli C,Kassiou K,Tsagaraki S,Pantelakis S

更新日期：1981-10-01 00:00:00

abstract：UNLABELLED:Acid reflux and/or oesophagitis may be responsible for inconsolable crying in infants. We evaluated prospectively the presence of acid reflux disease, oesophagitis and the accuracy of pH monitoring in the prediction of oesophagitis in a population of irritable infants. A 24-h oesophageal pH monitoring with a...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Badriul H,Verghote M,Hauser B,Kaufman L

更新日期：2004-06-01 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：:We have previously shown that breast-fed infants have a considerably larger thymus at 4 months than formula-fed infants. The aim of the present study was to investigate whether breast-feeding also influences the thymic size in late infancy. In a cohort of 50 infants, all being partially breast-fed when recruited at 8 ...

journal_title：European journal of pediatrics

authors： Hasselbalch H,Engelmann MD,Ersboll AK,Jeppesen DL,Fleischer-Michaelsen K

更新日期：1999-12-01 00:00:00

abstract：:The incidence of urolithiasis in children is increasing. Adequate knowledge of treatment modalities and surgical options is therefore essential for every pediatrician. Surgical approaches to urolithiasis in children continue to evolve with advancements in technology and sophistication of current equipment and techniqu...

journal_title：European journal of pediatrics

authors： Hwang K,Mason MD,Peters CA

更新日期：2011-06-01 00:00:00

abstract：:A series of information processing tasks was administered to 22 PKU children aged 8.5 years who had been under dietary treatment since birth as well as to 20 controls of the same age. This contribution presents the results of two tasks from this series: a continuous performance task and a calculation task. The continu...

journal_title：European journal of pediatrics

authors： de Sonneville LM,Schmidt E,Michel U,Batzler U

更新日期：1990-01-01 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：:Two newborns with congenital rubella syndrome are reported. Cranial sonography demonstrated bilateral cystic lesions in the subependymal germinal matrix. Congenital rubella and cytomegalovirus (CMV) infections are the most common proven causes of subependymal cysts of nonhaemorrhagic origin in the newborn. The sonogra...

journal_title：European journal of pediatrics

authors： Beltinger C,Saule H

更新日期：1988-12-01 00:00:00

abstract：UNLABELLED:During the last decade, much concern has been expressed about online pro-eating disorder communities (e.g., pro-anorexia websites and blogs) which encourage their users to engage in disordered eating behavior. The aim of the current paper is to reemphasize the importance of pro-eating disorder communities in...

journal_title：European journal of pediatrics

authors： Custers K

更新日期：2015-04-01 00:00:00

abstract：:Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...

journal_title：European journal of pediatrics

authors： Ranke MB,Gruhler M,Rosskamp R,Brügmann G,Attanasio A,Blum WF,Bierich JR

更新日期：1986-12-01 00:00:00

abstract：UNLABELLED:Neutrophils are an essential component of the human host defence system against infection. Recombinant human granulocyte colony-stimulating factor induces neutrophilia and enhances effector functions of mature neutrophils. Since the biological effects of granulocyte colony-stimulating factor (G-CSF) are medi...

journal_title：European journal of pediatrics

authors： Gessler P,Neu S,Nebe T,Speer CP

更新日期：1999-06-01 00:00:00

abstract：:To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and gl...

journal_title：European journal of pediatrics

authors： Gahr M,Heyne K

更新日期：1983-09-01 00:00:00

abstract：INTRODUCTION:Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for developing hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for the hypoglycaemia observed in some newborns with IUGR. Once the child has progressed beyond the infan...

journal_title：European journal of pediatrics

authors： Kochar IS,Hussain K

更新日期：2007-10-01 00:00:00

abstract：:The neonatal early onset sepsis (EOS) calculator is a novel tool for antibiotic stewardship in newborns, associated with a reduction of empiric antibiotic treatment for suspected EOS. We studied if implementation of the EOS calculator results in less healthcare utilization and lower financial costs of suspected EOS. F...

journal_title：European journal of pediatrics

authors： Achten NB,Visser DH,Tromp E,Groot W,van Goudoever JB,Plötz FB

更新日期：2020-05-01 00:00:00

abstract：:Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear po...

journal_title：European journal of pediatrics

authors： Kurnaz E,Duminuco P,Aycan Z,Savaş-Erdeve Ş,Muratoğlu Şahin N,Keskin M,Bayramoğlu E,Bonomi M,Çetinkaya S

更新日期：2018-03-01 00:00:00

abstract：:Adverse drug reactions (ADRs) are a significant problem in children, affecting one in ten children in hospital. Within the community, one in 500 children will experience an adverse drug reaction each year. Pharmacovigilance has been useful in detecting suspected ADRs. However, most ADRs are unreported and often not su...

journal_title：European journal of pediatrics

authors： Choonara I

更新日期：2013-05-01 00:00:00

abstract：:A male infant with transient citrullinemia is described. Initially, he was found to have hypertyrosinemia and hypermethioninemia upon routine neonatal screening for inborn errors of metabolism performed at 4 days of age and was revealed to have citrullinemia upon detailed examination of plasma amino acids. At 30 days ...

journal_title：European journal of pediatrics

authors： Ohtake A,Takayanagi M,Ogura N,Nakajima H

更新日期：1983-10-01 00:00:00

abstract：:Seven male Japanese children with chronic granulomatous disease were given sulfamethoxazole-trimethoprim (SMX-TMP) for recurrent pyogenic infections, most of which had proved difficult to control with other antibiotics. With continous treatment the children remained free of infections severe enough to necessitate hosp...

journal_title：European journal of pediatrics

authors： Kobayashi Y,Amano D,Ueda K,Kagosaki Y,Usui T

更新日期：1978-04-20 00:00:00

abstract：:The study was planned to determine identifiable starting points of a trend towards obesity and the influence of variables in preschool children aged 0 to 6 years. In this longitudinal follow-up study, 102 children were enrolled. Anthropometric measurements such as weight-height centiles (specific for gender and age gr...

journal_title：European journal of pediatrics

authors： Yücel O,Kinik ST,Aka S

更新日期：2011-06-01 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