Abstract：
:Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and altered psycho-social orientation to male. One of the reasons for interrupting replacement therapy in our case was the difficult social and economic status of the family, who lived for many years without basic medical care.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Tahirovic H,Toromanovic A,Grubic M,Grubic Z,Dumic Kdoi
10.1007/s00431-008-0847-2subject
Has Abstractpub_date
2009-07-01 00:00:00pages
847-9issue
7eissn
0340-6199issn
1432-1076journal_volume
168pub_type
杂志文章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
pub_type： 杂志文章
doi：10.1007/BF00442674
更新日期：1983-09-01 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：:The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnat...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01983409
更新日期：1994-06-01 00:00:00
abstract：UNLABELLED:This study was aimed to describe the epidemiology, clinical features, and prognosis of respiratory adenoviral infections among children in Suzhou, China. From 1 January 2006 to 31 December 2012, medical records of 474 hospitalized patients with respiratory adenovirus infection were reviewed retrospectively. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-013-2188-z
更新日期：2014-04-01 00:00:00
abstract：LARYNGOSCOPE BURNS IN NEONATAL INTUBATION:Following burns during neonatal intubation, we mounted an in vitro study of laryngoscopes to determine the temperatures reached during clinical use. The temperature of 10 different bulb laryngoscopes heads and two fibre optic heads were measured with a thermocouple, once opened...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-019-03381-0
更新日期：2019-07-01 00:00:00
abstract：:An 8-year-old boy with an hepatic form of Wilson disease was treated with oral zinc sulphate as the primary and sole therapy. After 4 months, liver function had dramatically improved, and the parameters characterizing copper metabolism had also normalized. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441526
更新日期：1989-06-01 00:00:00
abstract：:Asymptomatic excretion of group B streptococcus (GBS) in breast milk may be an underrecognized cause of neonatal and recurrent infection. We report the case of late-onset and recurrent infection in newborn twins resulting from ingestion of maternal breast milk infected with GBS. Genetic analysis of isolates is equally...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0903-y
更新日期：2009-09-01 00:00:00
abstract：:A term newborn infant developed a right sciatic nerve palsy after ischaemic necrosis of the gluteal region following umbilical arterial catheterization. The nerve lesion was believed to be caused by entrapment and compression by scar tissue. Recovery was slow and remained incomplete up to 6 months of age. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00439407
更新日期：1986-09-01 00:00:00
abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00491922
更新日期：1985-05-01 00:00:00
abstract：:The concentration of mRNA of insulin-like growth factor-II is (IGF-II) much elevated in some embryonic tumours such as Wilms tumour (nephroblastoma). In order to prove whether or not IGF-II is produced by the tumour tissue, IGF-II was extracted from freshly frozen tissue of Wilms tumour and hepatoblastoma. Normal adja...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02072483
更新日期：1993-02-01 00:00:00
abstract：:Paediatric patients are more vulnerable to drug administration errors due to a lack of appropriate drug dosages and strengths for use in this group of patients. Therefore, the aim of the present study was to determine the extent and types of drug administration errors in two paediatric wards and to identify measures t...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-009-1084-z
更新日期：2010-05-01 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
pub_type： 杂志文章,评审
doi：10.1007/pl00008442
更新日期：2001-06-01 00:00:00
abstract：:An 8-month-old boy and a 7-month-old girl presented with an acute, Coombs-positive auto-immune haemolytic anaemia and severe hepatitis. The clinical manifestations were pallor, jaundice and hepatomegaly. The liver histology revealed diffuse giant cell transformation and extensive necrosis with central-portal bridging....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01955929
更新日期：1991-03-01 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 report mother and son with the ulnar-mammary syndrome type Pallister: both had postaxial polydactyly in one upper limb and absence or hypoplasia of the axillary apocrine glands bilaterally. The mother had total lack of the mammary gland tissue and absence of one kidney. Her son also had unilateral oligodactyly, an ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00444644
更新日期：1976-11-03 00:00:00
abstract：UNLABELLED:Schimke immuno-osseous dysplasia is a multisystem disorder consisting of spondylo-epiphysial dysplasia, progressive renal insufficiency due to focal segmental glomerulosclerosis, and immunodeficiency. Cerebrovascular complications have only been described in five patients. Here we report a patient with promi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050714
更新日期：1997-10-01 00:00:00
abstract：:Vitamin D has attracted considerable interest in recent years, with a marked increase in diagnosis of vitamin D deficiency seen among children in clinical practice in the UK. The economic implications of this change in diagnostic behaviour have not been explored. We performed a cohort study to examine longitudinal tre...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-017-2986-9
更新日期：2017-10-01 00:00:00
abstract：:Until recently, trisomy 18 was considered a disease incompatible with life, with a high percentage of electively terminated pregnancies. The usual behavior was denial of treatment. But some medical interventions have changed the survival of children. A search for articles published in the PubMed database on the latest...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-019-03531-4
更新日期：2020-03-01 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
pub_type： 杂志文章,评审
doi：10.1007/s00431-003-1223-x
更新日期：2003-07-01 00:00:00
abstract：:Ethnic classification does not correlate well with skin tone. As there are no neonatal skin color scales, we aimed to create and validate one of our own. After creating the scale and briefly training our staff, we conducted a prospective, observational study to assess reproducibility and correlation of each scale colo...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03623-6
更新日期：2020-09-01 00:00:00
abstract：:The first Scandinavian cases of Zellweger syndrome (ZS) are described. A brother and sister, children of first cousins, had the typical clinical symptoms and pathological findings. Extensive metabolic studies in the boy were negative. Pipecolic acid in the urine was not elevated. Both children died at 14 weeks of age....
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00493539
更新日期：1978-04-20 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
pub_type： 杂志文章
doi：10.1007/BF01959396
更新日期：1990-04-01 00:00:00
abstract：:Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristi...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF02138781
更新日期：1994-01-01 00:00:00
abstract：UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050010
更新日期：2000-01-01 00:00:00
abstract：:Cortisol and growth hormone (GH) secretion (spontaneous variations at night and the release induced by insulin hypoglycaemia) were investigated in 69 children and adolescents. Statistical analysis of approximately 600 pairs of cortisol and GH values in this study demonstrated that physiological fluctuations of cortiso...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496996
更新日期：1978-06-20 00:00:00
abstract：:We report a prospective, non-blind, randomised, multicentre, parallel group, multinational investigation to compare ceftazidime to aminoglycoside based regimens as empirical treatment in 1316 cases of suspected sepsis in the newborn. In each of the 15 study centres either ceftazidime alone (CAZ) or ceftazidime + ampic...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
doi：10.1007/BF01954122
更新日期：1992-12-01 00:00:00
abstract：:We describe an outbreak of echovirus type 18 infection involving 20 neonatal intensive care unit (NICU) patients and the results of virological investigations are presented. RT-PCR demonstrated a widespread transmission of the virus in NICU patients during the outbreak. Separation care and additional infection control...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0516-x
更新日期：2008-05-01 00:00:00
abstract：:Acid-base disturbances have been usually evaluated with the traditional Henderson-Hasselbach method and Stewart's physiochemical approach by quantifying anions of tissue acids (TA). It is hypothesized that an increase in tissue acids during metabolic acidosis would cause a compensatory decrease in the plasma chloride ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-011-1666-4
更新日期：2012-06-01 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：: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
