Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion.

abstract：UNLABELLED:Rhizomelic chondrodysplasia punctata (RCDP) is clinically characterized by symmetrical shortening of the proximal limbs, contractures of joints, a characteristic dysmorphic face, and cataracts. In the classical form an impairment of several peroxisomal functions and enzymes (plasmalogen synthesis, phytanic a...

journal_title：European journal of pediatrics

authors： Hebestreit H,Wanders RJ,Schutgens RB,Espeel M,Kerckaert I,Roels F,Schmausser B,Schrod L,Marx A

更新日期：1996-12-01 00:00:00

abstract：:Respiratory and arousal responses to mild hypoxia (15% oxygen in nitrogen) were recorded in 18 healthy infants and 33 infants who had sustained severe sleep related apnoeic events (ALTE). Respiratory movements and transcutaneous gas pressures (tcPO2 and tcPCO2) were continuously monitored during the 10 min test. The c...

journal_title：European journal of pediatrics

authors： Milerad J,Hertzberg T,Wennergren G,Lagercrantz H

更新日期：1989-04-01 00:00:00

abstract：UNLABELLED:It has been suggested that chronic treatment with L-thyroxine (L-T4) could be implicated in reducing bone mineral density (BMD). The purpose of this longitudinal study was to determine whether appendicular and axial BMD is decreased by L-T4 treatment in adolescent girls. Thirteen adolescent girls with subcli...

journal_title：European journal of pediatrics

authors： Saggese G,Bertelloni S,Baroncelli GI,Costa S,Ceccarelli C

更新日期：1996-06-01 00:00:00

abstract：:Indomethacin treatment for 1 week monitored by drug level determinations was evaluated in 32 preterm infants with symptomatic patent ductus arteriosus (sPDA). Inter- and intra-individual indomethacin dispositions varied considerably with the need for marked dosage adjustments to maintain the drug level within the prop...

journal_title：European journal of pediatrics

authors： Leonhardt A,Isken V,Kühl PG,Seyberth HW

更新日期：1987-03-01 00:00:00

abstract：:The incidence of urolithiasis in children is increasing. Adequate knowledge of treatment modalities and surgical options is therefore essential for every pediatrician. Surgical approaches to urolithiasis in children continue to evolve with advancements in technology and sophistication of current equipment and techniqu...

journal_title：European journal of pediatrics

authors： Hwang K,Mason MD,Peters CA

更新日期：2011-06-01 00:00:00

abstract：INTRODUCTION:Population modelling using mixed-effects models provides a means to study variability in drug responses among individuals representative of those for whom the drug will be used clinically. DISCUSSION:The advantages of these models in paediatric studies are that they can be used to analyse sparse data, sam...

journal_title：European journal of pediatrics

authors： Anderson BJ,Allegaert K,Holford NH

更新日期：2006-11-01 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

authors： Müller C,Kremer W,Harlfinger S,Doroshyenko O,Jetter A,Hering F,Hünseler C,Roth B,Theisohn M

更新日期：2006-04-01 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

authors： Arisaka O,Obinata K,Yabuta K,Ishimoto K,Sato K

更新日期：1987-07-01 00:00:00

abstract：:In our clinic the decision on whether to continue with dietary treatment of phenylketonuria or not is left to each adolescent and adult patient after the advantages and disadvantages, as discussed in this paper, of continuing diet have been presented to them. As a result 61 of 132 patients have stopped diet or decline...

journal_title：European journal of pediatrics

authors： Brenton DP,Tarn AC,Cabrera-Abreu JC,Lilburn M

更新日期：1996-07-01 00:00:00

abstract：UNLABELLED:Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partia...

journal_title：European journal of pediatrics

authors： Adachi M,Shinkai M,Ohhama Y,Tachibana K,Kuratsuji T,Saji H,Maruya E

更新日期：2004-04-01 00:00:00

abstract：:Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these condition...

journal_title：European journal of pediatrics

authors： Jaeggi-Groisman SE,Kiess W,Christomanou H,Kessler U,Froesch ER

更新日期：1992-01-01 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

authors： Taddio A,Simonini G,Lionetti P,Lepore L,Martelossi S,Ventura A,Cimaz R

更新日期：2011-10-01 00:00:00

abstract：UNLABELLED:We report on a 5-year-old girl with an unusually severe course of tick-borne encephalitis following passive immunization with specific hyperimmune globulin after a tick bite in an endemic area. Serial investigations of the CSF revealed intrathecal production of specific antibodies paralleled by increasing nu...

journal_title：European journal of pediatrics

authors： Waldvogel K,Bossart W,Huisman T,Boltshauser E,Nadal D

更新日期：1996-09-01 00:00:00

abstract：:The topography and morphology of the lacrimal ducts in newborn infants was demonstrated by means of post mortem dacryocystograms and microphotograms of histologic slides. Because of bends in the course of the lower tear duct, a percentage of probings will fail to effect satisfactory perforation of the Hasner membrane....

journal_title：European journal of pediatrics

authors： Müller KM,Busse H,Osmers F

更新日期：1978-09-08 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

authors： Rister M,Brucke G,Wegener F,Gladtke E

更新日期：1980-12-01 00:00:00

abstract：:We review the validity of balloon occlusion aortography (BOA) on the basis of our personal experience with 18 patients with congenital heart disease (mean weight 4.55 g, including 8 neonates). Four of the 18 patients underwent aortic arch angiography using balloon occlusion of the descending aorta. Pulmonary angiograp...

journal_title：European journal of pediatrics

authors： Ino T,Shimazaki S,Nishimoto K,Akimoto K,Iwahara M,Yabuta K,Watanabe M,Tanaka A,Hosoda Y

更新日期：1991-02-01 00:00:00

abstract：:Children with symptomatic hypoglycemia and asymptomatic hypoglycemia-prone children were shown to differ in the degree of ketosis after a 20 h fast. In the latter children the close negative correlation between ketone body levels and glucose levels yielded a regression line against which the former children's data cou...

journal_title：European journal of pediatrics

authors： Teijema HL,van Gelderen HH,Giesberts MA

更新日期：1980-06-01 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

authors： Feigerlová E,Pruhová S,Dittertová L,Lebl J,Pinterová D,Kolostová K,Cerná M,Pedersen O,Hansen T

更新日期：2006-07-01 00:00:00

abstract：:Current practice favors serotesting adolescents with a negative history of chickenpox rather than offering presumptive vaccination. Recent epidemiologic data from Greece indicate that a high proportion of adolescents (21.5%) are susceptible to chickenpox. We assessed the reliability of negative varicella history in re...

journal_title：European journal of pediatrics

authors： Katsafadou A,Kallergi K,Ferentinos G,Goulioti T,Foustoukou M,Papaevangelou V

更新日期：2009-01-01 00:00:00

abstract：:We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 c...

journal_title：European journal of pediatrics

authors： Chong LSH,Fitzgerald DA,Craig JC,Manera KE,Hanson CS,Celermajer D,Ayer J,Kasparian NA,Tong A

更新日期：2018-03-01 00:00:00

abstract：UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...

journal_title：European journal of pediatrics

authors： Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

更新日期：2001-02-01 00:00:00

abstract：UNLABELLED:Although bacterial colonisation of bronchi may occur from early childhood onwards, infections extending beyond the lungs are uncommon in patients with cystic fibrosis. A 12-year-old boy with cystic fibrosis, receiving oral corticosteroids for 3 weeks because of allergic bronchopulmonary aspergillosis, experi...

journal_title：European journal of pediatrics

authors： Aebischer CC,Aebi C,Schöni MH

更新日期：2000-09-01 00:00:00

abstract：:Total serum LDH activity and isoenzyme distribution were studied in children with neuroblastoma at the time of hospital admission. The total LDH was determined in 26 cases, and 20 (77%) of them showed elevation of its activity. On the other hand, in 9 of these 26 cases, the isoenzyme distribution was determined along ...

journal_title：European journal of pediatrics

authors： Kinumaki H,Takeuchi H,Ohmi K

更新日期：1976-09-01 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

authors： Italia S,Wolfenstetter SB,Teuner CM

更新日期：2014-11-01 00:00:00

abstract：:The purpose of this study is to investigate the association of programmed death-1 gene (PD-1) polymorphisms with genetic predispositions to Kawasaki disease (KD). A total of 73 patients with KD and 100 healthy controls were enrolled from 2007 to 2008. Two single nucleotide polymorphisms of the PD-1 gene, rs41386349 an...

journal_title：European journal of pediatrics

authors： Chun JK,Kang DW,Yoo BW,Shin JS,Kim DS

更新日期：2010-02-01 00:00:00

abstract：:We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...

journal_title：European journal of pediatrics

authors： Chan WK,Chang KO,Lau WH

更新日期：2017-08-01 00:00:00

abstract：:Five males are reported with severe X-linked arthrogryposis. Main findings are marked respiratory insufficiency and feeding problems, multiple contractures, deformities of chest and vertebral column, and typical facies. Most of these findings can be explained by a pronounced prenatal and postnatal muscle weakness. The...

journal_title：European journal of pediatrics

authors： Hennekam RC,Barth PG,Van Lookeren Campagne W,De Visser M,Dingemans KP

更新日期：1991-07-01 00:00:00

abstract：:Biochemical markers such as plasma and urinary metabolite concentrations and in vitro enzyme activity are of limited prognostic value in the most common disorders of propionate metabolism, methylmalonic acidaemia (MMA) and propionic acidaemia (PA). In vivo propionate oxidation was compared with conventional prognostic...

journal_title：European journal of pediatrics

authors： Thompson GN,Walter JH,Bresson JL,Bonnefont JP,Saudubray JM,Leonard JV,Halliday D

更新日期：1990-03-01 00:00:00

abstract：:The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or post-ductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried...

journal_title：European journal of pediatrics

authors： Meier-Stauss P,Bucher HU,Hürlimann R,König V,Huch R

更新日期：1990-09-01 00:00:00

abstract：:Physiotherapists, occupational therapists, and speech therapists play a key role in the treatment of children with epilepsy. We performed a survey of therapists' knowledge of and attitudes towards epilepsy in two regions of Germany, the city of Leipzig and the rural district of Zwickau. Therapists of 29/68 (43%) outpa...

journal_title：European journal of pediatrics

authors： Hackel K,Neininger MP,Kiess W,Bertsche T,Bertsche A

更新日期：2019-10-01 00:00:00