Abstract:
UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already been identified. The true incidence of PCD may be higher than currently reported, because the diagnosis is challenging and often missed. For the confirmation of PCD, both ciliary motility as well as ciliary ultrastructure must be evaluated. An early and adequate diagnosis and therapy can theoretically prevent bronchiectasis. Measurement of nasal nitric oxide has some value as a screening test but cannot be performed in young children. In the respiratory tract epithelium, impaired mucociliary clearance leads to chronic and/or recurrent upper and lower respiratory tract infections. In up to 75 % of the patients, respiratory manifestations start in the newborn period, although the diagnosis is often missed at that time. During embryogenesis, nodal cilia, which are motile cilia, determine the correct lateralization of the organs. Dysfunction of these cilia leads to random lateralization and thus situs inversus in approximately 50 % of the patients with PCD. The tail of a spermatozoon has a structure similar to that of a motile cilium. Consequently, male infertility due to immotile spermatozoa is often part of the characteristics of PCD. Given the heterogeneity and the rarity of the disorder, therapy is not evidence-based. Many treatment schedules are proposed in analogy with the treatment for cystic fibrosis. CONCLUSION:Respiratory infections, situs inversus and male infertility are typical manifestations of PCD, a rare autosomal recessive disorder.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Boon M,Jorissen M,Proesmans M,De Boeck Kdoi
10.1007/s00431-012-1785-6subject
Has Abstractpub_date
2013-02-01 00:00:00pages
151-62issue
2eissn
0340-6199issn
1432-1076journal_volume
172pub_type
杂志文章,评审abstract::Necrotizing enterocolitis (NEC) is usually considered to be a neonatal disease, and is rarely described beyond the newborn period. During the last 15 years, 19 infants from the Negev region, Israel, with NEC were beyond the neonatal age group (range = 34-616 days, median = 90 days). Of this group only 16% were born pr...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442592
更新日期:1984-04-01 00:00:00
abstract::Various polymorphonuclear leukocyte (PMN) functions are dependent on an intact intracellular cytoskeleton consisting of the microtubules and the microfilaments. To investigate the microtublule system in PMNs we observed the spontaneous, Colchicine and Diamide induced cap-formation by fluorescence microscopy ion PMNs o...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441634
更新日期:1980-12-01 00:00:00
abstract::A patient with a cerebro-hepato-renal syndrome was investigated. The visceral manifestations were those of the Zellweger syndrome (ZS); however, the child exhibited muscular hypertonia and survived into the 2nd year of life. Ultramicroscopically, hepatocytes were lacking peroxisomes, but, contrary to findings in one p...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441934
更新日期:1977-03-18 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:UNLABELLED:This study aimed to determine the population pharmacokinetics of doxapram in low-birth-weight (LBW) infants. A total of 92 serum concentration measurements that were obtained from 34 Japanese neonates were analyzed using nonlinear mixed-effect modeling (NONMEM). Estimates generated by NONMEM indicated that c...
journal_title:European journal of pediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1007/s00431-014-2416-1
更新日期:2015-04-01 00:00:00
abstract::Twelve preterm infants, median gestational age 31.5 weeks, were entered into a randomised, placebo-controlled trial of bronchodilator therapy. Their postnatal age was a median of 17.5 months and all suffered from recurrent respiratory symptoms. The infants received either inhaled placebo or 40 micrograms of ipratropiu...
journal_title:European journal of pediatrics
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01955008
更新日期:1991-10-01 00:00:00
abstract::Serum creatinine, uric acid, and hypoxanthine and xanthine concentrations were determined in 17 mother-infant pairs at the time of delivery. Creatinine and uric acid levels were nearly similar, but hypoxanthine and xanthine were more than twice as high in the blood of the infants than in the blood of their mothers. In...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441585
更新日期:1980-03-01 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
pub_type: 杂志文章
doi:10.1007/s00431-018-03312-5
更新日期:2019-03-01 00:00:00
abstract::Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. All 39 achondroplasia alleles studied so far carried point mutations which caused the same amino acid exchange, a substitution of glycine by arg...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01954274
更新日期:1995-03-01 00:00:00
abstract:UNLABELLED:Melatonin is secreted during the night in adults but not in infants. It has a hypnotic effect as well as a relaxing effect on the smooth muscle of the gastrointestinal tract. It is plausible that breast milk, which consists of melatonin, may have an effect on improving infants' sleep and reducing infantile c...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1659-3
更新日期:2012-04-01 00:00:00
abstract:UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-003-1294-8
更新日期:2003-11-01 00:00:00
abstract::A 7-year-old boy developed acute, severe hypercalcaemia following the partial excision of a cerebellar medulloblastoma. The serum calcium level was extremely high (19.8 mg/100 ml), but a skeletal survey revealed no apparent bone metastatic lesions; such lesions were only detected by X-ray 3 weeks after the onset of hy...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00444958
更新日期:1987-07-01 00:00:00
abstract:UNLABELLED:Biochemical and molecular genetic studies were performed on the enzyme variants of two patients compound heterozygous for glucose phosphate isomerase (GPI) deficiency, both suffering from severe haemolytic anaemia. The enzymes of case 1 (GPI 'Zwickau') and case 2 (GPI 'Nordhorn' [25]), revealed reduced GPI a...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310050674
更新日期:1997-08-01 00:00:00
abstract::Congenital nephrotic syndrome (CNS) is a heterogeneous group of diseases with different causes and prognoses. Two thirds of cases of NS in the first year of life are caused by mutations in four genes (NPHS1, NPHS2, WT1, and LAMB2). The mutation of WT1 gene can lead to Denys-Drash syndrome (DDS). We report on female mo...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-011-1497-3
更新日期:2012-01-01 00:00:00
abstract:UNLABELLED:Reports on schistosomiasis in children growing up in Europe are rare despite increased travel activity. We report on eight male and three female German children aged 50 months to 15 years with schistosomiasis. Six children were asymptomatic, whereas two presented with typical signs of Katayama fever. Persist...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s004310051326
更新日期:2000-07-01 00:00:00
abstract::A South African family with autosomal dominant split hand, split foot (SHSF) malformation has been studied. The pedigree was unusual in that three unaffected siblings with normal parents had each produced affected offspring. New mutation, germinal mosaicism and autosomal recessive inheritance are unlikely. Possible ex...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00442225
更新日期:1988-02-01 00:00:00
abstract::Education is necessary to improve child physical abuse detection and management. A few studies have described national child abuse training programs, but none has measured changes in knowledge among participants. A collaboration of child abuse experts from the USA, an academic pediatric department, and a non-governmen...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-020-03625-4
更新日期:2020-09-01 00:00:00
abstract::Cerebral blood flow velocities (CBFV) were measured by the pulsed Doppler method in 41 infants of smoking mothers and in 59 apparently healthy control infants. Although gestational age, birth weight, and systolic blood pressure were lower in infants exposed to tobacco smoke prenatally, systolic (65 +/- 11 vs. 47 +/- 1...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01956151
更新日期:1993-03-01 00:00:00
abstract::We report three brothers who developed nephrosis between the age of 3-10 years. The parents were nonconsanguineous and of Arab descent. The mother's sister had a son with a similar condition. Patients were steroid responders and frequent relapsers. Renal biopsies in the three brothers showed findings of minimal change...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01958283
更新日期:1989-12-01 00:00:00
abstract::It is not clear if children with high fever are at increased risk for serious bacterial infection (SBI). Our aim was to systematically review if children suffering from high fever are at high risk for SBI. Our data sources were Embase, Medline, and Pubmed; from their inception until the last week of March 2017. The st...
journal_title:European journal of pediatrics
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00431-018-3098-x
更新日期:2018-03-01 00:00:00
abstract::In a prospective study elastase alpha 1-proteinase inhibitor (E alpha 1PI), polymorphonuclear (PMN) count, the immature to total neutrophil count ratio (I/T ratio), and C-reactive protein (CRP) were analysed in 74 patients (76 cases) with neonatal septicaemia at the time of initial clinical symptoms. At that early sta...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02113257
更新日期:1992-05-01 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
pub_type: 杂志文章
doi:10.1007/BF01958979
更新日期:1994-03-01 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
abstract::An Arab Moslem kindred is reported in which six abnormal male fetuses were born in three closely related sibships. They had amelia, malformed head and other severe skeletal and visceral malformations. The similarities and differences between the developmental and inherent characteristics found in our patients and in f...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF00441792
更新日期:1985-11-01 00:00:00
abstract:UNLABELLED:A total of 22 Japanese patients with hypophosphatasia were included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia. The enzymatic activity of some of the identifi...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/s00431-004-1612-9
更新日期:2005-05-01 00:00:00
abstract:UNLABELLED:A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recov...
journal_title:European journal of pediatrics
pub_type: 杂志文章,评审
doi:10.1007/s004310051033
更新日期:1999-02-01 00:00:00
abstract::Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF02072489
更新日期:1993-02-01 00:00:00
abstract:UNLABELLED:An 8-year-old boy with frequently recurring pancreatitis-like abdominal pain, Fredrickson type V dyslipidaemia, and significantly decreased post-heparin plasma lipoprotein lipase (LPL) activity is described. In order to exclude familial LPL deficiency, the complete LPL coding gene sequence was analysed revea...
journal_title:European journal of pediatrics
pub_type: 杂志文章
doi:10.1007/BF01957148
更新日期:1996-08-01 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::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
pub_type: 杂志文章
doi:10.1007/s00431-011-1459-9
更新日期:2011-09-01 00:00:00