Abstract：
:Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutations in the dymeclin (DYM) gene in the 18q12-12.1 chromosomal region. We report two siblings with classical clinical and radiological features of DMC and asymptomatic atlanto-axial dislocation. A novel homozygous splice-site mutation (IVS15+3G>T) was detected. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed that this mutation affects normal splicing. To the best of our knowledge, this is the first report of DMC from Saudi Arabia. The splice mutation noted in our patients was compared to the previously reported cases and supports the hypothesis that loss of DYM function is the likely mechanism of disease pathogenesis. In conclusion, distinction between this type of skeletal dysplasia and Morquio disease (MPS IV) is important for paediatricians and clinical geneticist in providing standard patient care and genetic counselling.
journal_name
Eur J Pediatrjournal_title
European journal of pediatricsauthors
Khalifa O,Imtiaz F,Al-Sakati N,Al-Manea K,Verloes A,Al-Owain Mdoi
10.1007/s00431-010-1298-0subject
Has Abstractpub_date
2011-01-01 00:00:00pages
121-6issue
1eissn
0340-6199issn
1432-1076journal_volume
170pub_type
杂志文章abstract：:We evaluated polymorphonuclear leucocyte (PMN) chemotaxis and cortisol levels in cord blood from 15 healthy term infants delivered by caesarean section and from 15 healthy vaginally delivered term infants. Mean neutrophil chemotaxis was significantly higher in infants delivered by caesarean section (78.3 +/- 23.4 micr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01958427
更新日期：1991-05-01 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：UNLABELLED:Our aim was to study the frequency and clinical correlates of two radiographic patterns of bronchopulmonary dysplasia (BPD), the cystic BPD (cBPD) and the leaky lung syndrome (LLS). Radiographic findings of BPD from sixth day of life until term in a cohort of 82 very low birth weight (VLBW) infants were eval...
journal_title：European journal of pediatrics
pub_type： 临床试验,杂志文章
doi：10.1007/s00431-011-1486-6
更新日期：2012-01-01 00:00:00
abstract：UNLABELLED:Utilization of complementary and alternative medicine (CAM) among children/adolescents is popular. This review summarizes the international findings for prevalence and predictors of CAM use among children/adolescents. We therefore systematically searched four electronic databases (PubMed, Embase, PsycINFO, A...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-014-2300-z
更新日期：2014-11-01 00:00:00
abstract：:Despite the sudden and often alarming clinical manifestations of ITP, few patients in the pediatric age group develop serious complications or long-term sequellae. Conservative therapy, without use of pharmacologic or surgical intervention, is the most convenient, safe, and cost-effective approach in the vast majority...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02343213
更新日期：1987-03-01 00:00:00
abstract：:Portal hypertension was observed in a 17-year-old girl with urticaria pigmentosa since 2 months of age. Liver biopsies showed portal and sinusoidal infiltration with mast cells although spleen biopsies showed only fibrosis. CONCLUSION. Portal hypertension is a complication of systemic mastocytosis that can lead to dea...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01959789
更新日期：1995-10-01 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
abstract：:In 166 full term, small-for-gestational-age (FT-SGA), 53 preterm, appropriate-for-gestational-age (PT-AGA), 27 PT-SGA and 206 FT-AGA infants a neurological examination at the age of 6 years was carried out. Data were collected on behaviour and school achievement. Major and minor neurological abnormalities were more fr...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441967
更新日期：1988-06-01 00:00:00
abstract：UNLABELLED:Alleviation of suffering is considered to be one of the important goals of medical interventions. Understanding of what constitutes suffering in children admitted to a pediatric intensive care unit (PICU) is lacking. This study aims to assess perceptions by parents, doctors, and nurses of suffering in critic...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-014-2440-1
更新日期：2015-05-01 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：:Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections and hospitalizations in children aged < 2 years. The aim of this retrospective, single-centre study was to examine the characteristics of patients admitted to a paediatric intensive care unit (PICU) with RSV infection followin...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-010-1376-3
更新日期：2011-07-01 00:00:00
abstract：:To reveal the influence of therapeutically induced changes of arterial blood pressure on cerebral circulation, pulsed Doppler measurements of blood velocity in the right internal carotid artery were performed in 23 neonates. A positive correlation between mean arterial blood pressure and time-averaged maximum blood ve...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441596
更新日期：1987-09-01 00:00:00
abstract：:Pseudohyperkalaemia was observed in 3 of 16 patients with Kawasaki disease showing remarkably increased platelet counts. Their plasma potassium concentration, which is not affected by in vitro coagulation, was in the normal range despite the increased serum level. A significant correlation was observed between the pla...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF01957752
更新日期：1992-07-01 00:00:00
abstract：:Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03651-2
更新日期：2020-10-01 00:00:00
abstract：:The glycogen storage disorders (GSD)-I, -III, -VI and -VIII are associated with hypertriglyceridaemia or mixed hyperlipidaemia which poses the question whether these patients have an increased risk for atherosclerosis. The atherogenicity of triglycerides has remained controversial, while increased plasma cholesterol l...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF02072094
更新日期：1993-01-01 00:00:00
abstract：:Neonatal diabetes, which may be transient or permanent, is rare. Most patients are full-term but small- for-date infants. Typical symptoms of diabetes mellitus occur within the first 4 weeks of life, requiring insulin therapy and very strict blood glucose monitoring. Subsequent growth and psychomotor development are u...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/BF01958635
更新日期：1995-12-01 00:00:00
abstract：:The new coronavirus disease outbreak in 2019 (COVID-19) represents a dramatic challenge for healthcare systems worldwide. As to viral tropism, lungs are not the only COVID-19 target but also the heart may be involved in a not negligible percentage of the infected patients. Myocarditis-related cardiac dysfunction and p...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-020-03699-0
更新日期：2020-07-01 00:00:00
abstract：:We report on a 10-year-old girl who was presented to the Emergency Department with a 3-day history of "vaginal bleeding", the cause of which was determined to be urethral prolapse. Urethral prolapse occurs when the urethra mucosa evaginates beyond the urethral meatus. This uncommon condition in prepubescent girls shou...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-007-0523-y
更新日期：2008-05-01 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：:Twenty-eight children whose parents reported sleep apnoea were investigated. In 15 infants apnoeic periods during sleep could be confirmed during clinical observation. Ventilatory responses to CO2 were measured in all infants, in 23 during sleep in 5 only when awake. A very wide range of CO2 sensitivities was found. I...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496030
更新日期：1986-04-01 00:00:00
abstract：:A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-fil...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00496431
更新日期：1988-05-01 00:00:00
abstract：BACKGROUND:The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of...
journal_title：European journal of pediatrics
pub_type： 杂志文章,多中心研究
doi：10.1007/s00431-006-0237-6
更新日期：2007-03-01 00:00:00
abstract：UNLABELLED:Disseminated atypical mycobacterium infection is essentially reported in cellular immunodeficient children. Cell-mediated immunity including cytokines like tumour necrosis factor alpha (TNF) and gamma interferon (IFN) is the most important factor allowing control of the dissemination of Mycobacterium. We rep...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s004310050583
更新日期：1997-03-01 00:00:00
abstract：:Effective management of pain remains an important indicator of the quality of care provided to neonates. Since the review of McIntosh in this journal over a decade ago, an extensive number of papers on assessment, prevention, and treatment of pain have been reported. In addition, preclinical insights into neurodevelop...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-009-0932-1
更新日期：2009-07-01 00:00:00
abstract：UNLABELLED:Intensive multimodality treatment has led to a remarkable improvement of prognosis in paediatric cancer patients, however, a great number of long-term survivors suffer from considerable tumour- or treatment-related late effects. Between January 1990 and December 1998, 223 consecutive survivors of childhood m...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/pl00008340
更新日期：2000-10-01 00:00:00
abstract：:Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the...
journal_title：European journal of pediatrics
pub_type： 杂志文章,评审
doi：10.1007/s00431-019-03567-6
更新日期：2020-02-01 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：:The involvement of minors in clinical research is inevitable to catch up with the lack of drugs labeled for pediatric use. To encourage the responsible conduct of pediatric clinical trials in the EU, an extensive legal framework has been developed over the past decade in which the practical, ethical, legal, social, an...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/s00431-008-0915-7
更新日期：2009-10-01 00:00:00
abstract：:Abnormalities of chromosome 14 are encountered infrequently in clinical cytogenetics and only few studies of paracentric inversion have been published. This paper reports the first case of hypospadias associated with paracentric inversion of chromosome 14. ...
journal_title：European journal of pediatrics
pub_type： 杂志文章
doi：10.1007/BF00441748
更新日期：1986-02-01 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
