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, that nonreduction of the first meiotic division in the father's spermiogenesis most probably leads to triploidy. However, in our case fertilization of the zygote by two sperms cannot be excluded.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Kunze J,Oldigs HD,Tolksdorf Mdoi
10.1007/BF00442640subject
Has Abstractpub_date
1976-09-01 00:00:00pages
111-4issue
2eissn
0340-6199issn
1432-1076journal_volume
123pub_type
杂志文章abstract::Shock is a state of circulatory dysfunction and its diagnosis is complex in neonates. Hemodynamic assessment using echocardiography has potential to guide better management regimes in neonates with shock. Objective of this study is to analyze changes in the echocardiographic parameters in preterm neonates with shock a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03775-5
更新日期:2020-12-01 00:00:00
abstract::Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at le...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-007-0572-2
更新日期:2008-07-01 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
pub_type: 杂志文章
doi:10.1007/s00431-011-1600-9
更新日期:2012-03-01 00:00:00
abstract::Since the first description by Catel and Manzke of hyperphalangy and clinodactyly of the index finger associated with Robin malformation sequence, seven further cases have been published. In two families more than one case occurred. Another family is presented with possibly two affected boys showing variable features ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442455
更新日期:1984-08-01 00:00:00
abstract::It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1126-6
更新日期:2010-07-01 00:00:00
abstract:UNLABELLED:Familial Mediterranean fever (FMF) is characterised by recurrent fever and serositis. The most important complication of the disease is amyloidosis. Cheap and non-invasive methods would be important in predicting or establishing the early diagnosis of amyloidosis. For this purpose, we studied the role of uri...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1173-3
更新日期:2003-05-01 00:00:00
abstract::The clinical spectrum of the perinatal COVID-19 and prospective data on neonatal outcomes remains largely unexplored. Most of the existing literature is in the form of case series or single-centre experience. In this review, we aim to summarize available literature on the clinical spectrum of COVID-19 in neonates and ...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s00431-020-03866-3
更新日期:2020-11-12 00:00:00
abstract::The long-term consequences of transient neonatal hypoglycemia are sparsely studied. We performed a follow-up of a cohort of neonates with blood glucose recordings < 1.7 mmol/L (< 30 mg/dL), treated with > 2.5 mmol/L (> 45 mg/dL), compared with healthy siblings. Exclusion criteria were gestational age < 35 weeks, sever...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03729-x
更新日期:2020-12-01 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
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00431-018-3165-3
更新日期:2018-07-01 00:00:00
abstract::The effect of intranasal LH-RH on cryptorchidism was investigated in 45 prepubertal boys with 68 undescended testes. A daily dose of 1.2 mg LH-RH was given for 4 weeks. A total of 16 testes (24%) descended. Follow-up examination 5 years later showed that relapse had occurred in two cases. Fifty-two testes did not desc...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章
doi:10.1007/BF00452869
更新日期:1987-01-01 00:00:00
abstract::The effects of intravenous injections of the opiate antagonist naloxone (0.005-0.4 mg/kg body weight) on respiratory pattern, apnoea duration and frequency were investigated in six infants with severe sleep apnoea syndrome. Since several authors found elevated plasma- and CSF-levels of endogenous opioids (endorphines)...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00439238
更新日期:1986-10-01 00:00:00
abstract::So far, a recognizable pattern of clinical symptoms for child sexual abuse (CSA), especially in young male children, is lacking. To improve early recognition of CSA, we reviewed physical complaints, physical examination, and tests on sexually transmitted infections (STIs) in confirmed victims (predominantly preschool ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-017-2996-7
更新日期:2017-10-01 00:00:00
abstract::We present a case of Pott's disease, where the patient presented with neurological impairment due to vertebral granulomatous necrosis, needing immediate decompression and later stabilizing and reconstructive orthopaedic surgery, in order to create awareness for TB in general, especially this forgotten form of spinal t...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0347-1
更新日期:2007-10-01 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::The updated Dutch guidelines on Neonatal Resuscitation assimilate the latest evidence in neonatal resuscitation. Important changes with regard to the 2004 guidelines and controversial issues concerning neonatal resuscitation are reviewed, and recommendations for daily practice are provided and argued in the context of...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-009-1091-0
更新日期:2010-05-01 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
pub_type: 杂志文章
doi:10.1007/s00431-017-3018-5
更新日期:2018-02-01 00:00:00
abstract::It is known that the 5%-10% of adults infected with hepatitis B virus (HBV) develop a chronic infection and that HBV infection acquired at birth by an hepatitis B surface antigen (HBsAg)/hepatitis B "e" antigen (HBeAg)-positive mother almost invariably leads to chronic infection. Little information is, however, availa...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01954381
更新日期:1992-03-01 00:00:00
abstract::Direct measurements of parathyroid activity are available in only small numbers of children with vitamin D deficiency rickets (VDR). Therefore serum immunoreactive parathyroid hormone (iPTH) and the urinary cyclic adenosine-3',5'-monophosphate excretion (UcAMP) were measured together with other important indices of ca...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00443214
更新日期:1984-01-01 00:00:00
abstract::Relevant findings are reported in an 8-year-old boy with skin infection due to Staphylococcus aureus producing toxic shock syndrome toxin-1 without shock but with an increase in antibody titre against the toxin. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444123
更新日期:1989-01-01 00:00:00
abstract::The purpose of this communication is to report the occurrence of early-onset Pseudomonas aeruginosa sepsis and Yersinia enterocolitica neonatal infection. This case serves as a reminder of the changing spectrum of neonatal septicaemia. ...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02343233
更新日期:1987-03-01 00:00:00
abstract:UNLABELLED:Aminoglycoside prescriptions were rarely evaluated in children care facilities. Because of risk of toxicity, these narrow spectrum antibiotics are commonly misused. In this study, we evaluate aminoglycoside prescription and assess the impact of an information campaign on modalities of prescription and monito...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2691-0
更新日期:2016-05-01 00:00:00
abstract::We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-008-0694-1
更新日期:2008-12-01 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
pub_type: 杂志文章
doi:10.1007/BF01958769
更新日期:1991-08-01 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
pub_type: 杂志文章
doi:10.1007/BF00441314
更新日期:1981-10-01 00:00:00
abstract:INTRODUCTION:Randomly estimated fasting hyperglycaemia in an asymptomatic individual may represent the first sign of pancreatic beta-cell dysfunction. OBJECTIVE:We aimed at specifying the genetic aetiology of asymptomatic hyperglycaemia in a cohort of children and adolescents. SUBJECTS AND METHODS:We analysed the aet...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-006-0106-3
更新日期:2006-07-01 00:00:00
abstract::A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01959523
更新日期:1990-07-01 00:00:00
abstract:UNLABELLED:A newborn boy was referred to our hospital because of hemolytic anemia and severe hyperbilirubinemia. Extensive investigations aimed at determining the cause of hemolysis was initiated at the time of admission and 3 months after blood transfusion. Notably, no intrinsic erythrocyte abnormalities could be dete...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-014-2374-7
更新日期:2014-12-01 00:00:00
abstract::Early identification of infants being at high risk to become obese at their later childhood or adolescence can be of vital importance in any obesity prevention initiative. The aim of the present study was to examine the utility and applicability of the "Childhood Obesity Risk Evaluation (CORE)" index as a screening to...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-016-2799-2
更新日期:2016-12-01 00:00:00
abstract::A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensat...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442334
更新日期:1982-02-01 00:00:00
abstract::Inflammatory bowel disease (IBD) is a cause of chronic intestinal inflammation in children. In a subset of patients affected by IBD, arthropathy may be the leading presenting sign. In the past years, remarkable advances in gastrointestinal endoscopy techniques have been achieved; recently, the development of capsule e...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1505-7
更新日期:2011-10-01 00:00:00