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 type, is discussed.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Tolksdorf M,Kunze J,Gross-Selbeck G,Sperling K,Wegner RD,Wieczorek V,Vogel Mdoi
10.1007/BF00443119subject
Has Abstractpub_date
1977-08-23 00:00:00pages
13-27issue
1-2eissn
0340-6199issn
1432-1076journal_volume
126pub_type
杂志文章abstract::Scimitar syndrome is a rare congenital cardiopulmonary malformation characterized by hypoplasia of the right lung and drainage of the right pulmonary veins into the vena cava inferior. It may also be associated with cardiac dextroversion and anomalies of the tracheobronchial system, cardiovascular system, and diaphrag...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-010-1153-3
更新日期:2010-10-01 00:00:00
abstract::Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with beta-galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterizing various forms of beta-g...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496087
更新日期:1980-05-01 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
pub_type: 杂志文章
doi:10.1007/s00431-006-0254-5
更新日期:2007-05-01 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
pub_type: 杂志文章
doi:10.1007/BF02429048
更新日期:1986-12-01 00:00:00
abstract::Most drugs that are currently prescribed in pediatrics have not been tested in children. Pediatric drug studies are stimulated in the USA by the pediatric exclusivity provision under the Food and Drug Administration Modernization Act (FDAMA) that grants patent extensions when pediatric labeling is provided. We investi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0381-z
更新日期:2007-08-01 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
pub_type: 杂志文章
doi:10.1007/BF02126298
更新日期:1990-01-01 00:00:00
abstract:INTRODUCTION:This randomised, observer-blind clinical trial conducted in Turkey evaluated the immunogenicity, safety and interchangeability of three paediatric inactivated hepatitis A vaccines in 424 seronegative children between 1 and 15 years of age. METHODS:Potential subjects were screened for anti-hepatitis A viru...
journal_title:European journal of pediatrics
pub_type: 杂志文章,随机对照试验
doi:10.1007/s00431-007-0432-0
更新日期:2007-06-01 00:00:00
abstract:UNLABELLED:Dent disease is an X-linked tubulopathy mainly caused by inactivating mutations of CLCN5. Features of Bartter syndrome such as hypokalemic metabolic alkalosis are rarely observed in patients with Dent disease. We report a Japanese male patient with Dent disease who also manifested features of Bartter syndrom...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1578-3
更新日期:2012-02-01 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
pub_type: 杂志文章
doi:10.1007/s00431-013-1972-0
更新日期:2013-07-01 00:00:00
abstract:UNLABELLED:In order to determine the response to high-frequency oscillatory ventilation (HFOV), used as an "early rescue" therapy, in a cohort of paediatric patients with acute respiratory distress syndrome (ARDS), a prospective clinical study was performed in a tertiary care paediatric intensive care unit. Ten consecu...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1544-4
更新日期:2005-01-01 00:00:00
abstract:UNLABELLED:To assess the efficacy of a serotonin re-uptake inhibitor, sertraline hydrochloride, in preventing recurrent neurocardiogenic syncope, we studied 15 patients (10 female; mean age 12.9 +/- 2 years) with positive head-upright tilt test and resistant to standard pharmacotherapy, atenolol or disopyramide. The pa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050704
更新日期:1997-10-01 00:00:00
abstract::Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-018-3219-6
更新日期:2018-11-01 00:00:00
abstract::We report what we believe to be the first case of simultaneous infection by Toxoplasma gondii and cytomegalovirus in a newborn. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00496426
更新日期:1988-05-01 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
pub_type: 临床试验,杂志文章
doi:10.1007/s00431-005-0021-z
更新日期:2006-04-01 00:00:00
abstract::Within a 2-year period, from March 1974 until May 1976 10 patients with anorexia nervosa were seen at the children's university hospitals of München (2 patients) and Giessen (8 patients). The patients were 10-16 years old, with one exception all girls, and had the typical cachexia, hypothermia, bradycardia, gray, hair...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00452416
更新日期:1976-12-09 00:00:00
abstract::Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0782-2
更新日期:2009-04-01 00:00:00
abstract:UNLABELLED:In patients with Henoch-Schönlein purpura (HSP) presenting with severe gastro-intestinal (GI) symptoms, IgA deposition was studied in endoscopically obtained mucosal biopsies. A total number of 11 patients (male, 7; female, 4) were enrolled in this study; 7 patients underwent upper GI endoscopy and biopsy 1 ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02075757
更新日期:1996-02-01 00:00:00
abstract::Five patients, 11 months to 3 4/12 years old with severe normochromic, normocytis anemia and reticulocytopenia are reported. At the height of erythropoietic arrest when erythroid precursor cells were completely absent, undifferentiated stem cells (transitional cells), accumulated in the bone marrow. They disappeared a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00497680
更新日期:1976-08-16 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
pub_type: 杂志文章
doi:10.1007/s004310100790
更新日期:2001-09-01 00:00:00
abstract:UNLABELLED:Storage of human breast milk by freezing or refrigeration of milk with and without heating have been recommended. This can hardly be avoided because of the social circumstances of most mothers who are regularly separated from their infants because of work or schooling as well as the particular needs of some ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310000577
更新日期:2000-11-01 00:00:00
abstract::Despite advancement in medical care, Rh alloimmunisation remains a major cause of neonatal hyperbilirubinaemia, neuro-morbidity, and late-onset anaemia. Delayed cord clamping (DCC), a standard care now-a-days, is yet not performed in Rh-alloimmunised infants due to paucity of evidence. Hence, we randomised these infan...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03578-8
更新日期:2020-06-01 00:00:00
abstract::Most pediatric asthma guidelines offer evidence-based or best practice approaches to the management of asthma exacerbations but struggle with evidence-based approaches for severe acute asthma (SAA). We aimed to investigate current practices in children with SAA admitted to European pediatric intensive care units (PICU...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究
doi:10.1007/s00431-019-03502-9
更新日期:2020-03-01 00:00:00
abstract:UNLABELLED:This retrospective study attempts to assess the size and growth pattern of the pulmonary artery about 1 year after neonatal arterial switch operation for simple transposition of the great arteries. Sixty-seven patients underwent cardiac catheterization, including catheterization of the right and left pulmona...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050777
更新日期:1998-02-01 00:00:00
abstract::Primary ciliary dyskinesia (PCD) is an inherited disease related to ciliary dysfunction, with heterogeneity in clinical presentation and in ciliary ultrastructural defect. Our study intended to determine if there are phenotypic differences in patients with PCD based on ciliary ultrastructural abnormality. In this retr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1996-5
更新日期:2013-08-01 00:00:00
abstract::Nineteen (12 male, 7 female) children, who have received craniospinal irradiation for the treatment of a brain tumour distant from the hypothalamic-pituitary axis, resulting in growth hormone (GH) deficiency (CS-PRGHD), have been treated with GH. Eight have completed growth. Comparison has been made with the growth of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442471
更新日期:1988-08-01 00:00:00
abstract::The aim of the study was to identify the relationship of acquired neutropenia with childhood infections and to assess its clinical course, complications, and outcome. Children admitted to two pediatric wards over a 4-year period with febrile neutropenia were prospectively investigated for underlying infections with in...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-013-1965-z
更新日期:2013-06-01 00:00:00
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
pub_type: 杂志文章
doi:10.1007/s00431-015-2499-3
更新日期:2015-07-01 00:00:00
abstract:UNLABELLED:Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldoste...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-012-1792-7
更新日期:2012-10-01 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
pub_type: 杂志文章
doi:10.1007/s00431-020-03920-0
更新日期:2021-01-15 00:00:00
abstract::Antithyroid drugs, considered the treatment of choice for hyperthyroidism during pregnancy, may have an adverse effect on intellectual development of the offspring. We examined the intellectual capacity of 31 subjects aged 4-23 years, born to women with Graves disease who received antithyroid drugs throughout pregnanc...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957719
更新日期:1992-08-01 00:00:00