Molybdenum cofactor deficiency in two siblings: diagnostic difficulties.

abstract：:Homeopathic globules are frequently used in children as a first-line treatment. Most of these globules are coated with sugar substitutes like xylitol; these substitutes are known for their laxative effect. Our patient shows that consumption of globules coated with xylitol does not have only laxative effects. It may ca...

journal_title：European journal of pediatrics

authors： Wille D,Hauri-Hohl M,Vonbach P,Tomaske M,Padden B,Bernet V

更新日期：2010-12-01 00:00:00

abstract：:This is a report on two mentally retarded sibs with similar anomalies (sagittal craniosynostosis, complex cardiovascular malformations, mandibular ankylosis) and various dysmorphic features. They could represent a "new" probably monogenic syndrome. ...

journal_title：European journal of pediatrics

authors： Pfeiffer RA,Singer H,Zschiesche S

更新日期：1987-01-01 00:00:00

abstract：:We investigated 55 children, aged from 24 months to 14 years with neurogenic bladder dysfunction secondary to myelomeningocele, by serial urodynamic. They were serially evaluation over 2-5 years. Management consisted of drug therapy together with intermittent vesical catheterization in different combinations on the ba...

journal_title：European journal of pediatrics

authors： Castro-Gago M,Novo I,Cimadevila A,Peña J,Rodriguez-Núñez A,Marqués'-Queimadelos A

更新日期：1990-11-01 00:00:00

abstract：UNLABELLED:Click-evoked oto-acoustic emissions (CEOAE) are acoustic responses produced by the inner ear, reflecting functional auditory integrity. We studied both the success rate of the CEOAE method and the CEOAE presence in preterm infants during their stay at the Neonatal Intensive Care Unit (NICU), by analysis of t...

journal_title：European journal of pediatrics

authors： Brienesse P,Maertzdorf WJ,Anteunis LJ,Manni JJ,Blanco CE

更新日期：1998-12-01 00:00:00

abstract：:Chemically defined or elemental medical foods provide the majority of protein equivalent in the diets of children treated for phenylketonuria (PKU). Because of the restricted intake of high biologic value protein, children with PKU often have lower than normal plasma concentrations of ferritin and zinc. Few reported s...

journal_title：European journal of pediatrics

authors： Acosta PB

更新日期：1996-07-01 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

authors： Shimizu T,Yamashiro Y,Yabuta K

更新日期：1992-07-01 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：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

authors： Vos MJ,Martens D,van de Leur SJ,van Wijk R

更新日期：2014-12-01 00:00:00

abstract：:West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant durat...

journal_title：European journal of pediatrics

authors： Auvin S,Hartman AL,Desnous B,Moreau AC,Alberti C,Delanoe C,Romano A,Terrone G,Kossoff EH,Del Giudice E,Titomanlio L

更新日期：2012-11-01 00:00:00

abstract：:This article summarizes some research on the development of motion perception in early infancy. The sensitivity for slow and rapid motion was studied with 1-month-old and 3-month-old babies. The findings suggest that there are different developmental courses for the detection of slow and rapid motion. The ability to d...

journal_title：European journal of pediatrics

authors： Kaufmann F

更新日期：1995-01-01 00:00:00

abstract：UNLABELLED:Extremely immature newborns develop a self-limiting normal anion gap metabolic acidosis in early life. This study examined the natural history of this acidosis in a population of infants of gestation less than 26 weeks in the first 14 days of life. The acidosis was maximal on day 4 with a mean base deficit o...

journal_title：European journal of pediatrics

authors： Bourchier D,Weston PJ

更新日期：2015-01-01 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

authors： Ozen S

更新日期：2003-07-01 00:00:00

abstract：UNLABELLED:The aim of the study was to determine the characteristic features and outcome of carcinoid or mucoepidermoid tumours in children. A retrospective analysis of all patients treated for a carcinoid or mucoepidermoid tumour in France between 1984 and 2001 was performed. There were 11 cases of carcinoid tumour an...

journal_title：European journal of pediatrics

authors： Fauroux B,Aynie V,Larroquet M,Boccon-Gibod L,Ducou le Pointe H,Tamalet A,Clément A

更新日期：2005-12-01 00:00:00

abstract：BACKGROUND:The treatment of complicated urinary tract infection in children is still a matter of debate. In our hospital, antimicrobial treatment is initiated intravenously, and the duration of this treatment is adapted according to the results of a Tc-99m dimercaptosuccinic acid (DMSA) scintigraphy. AIM:This study wa...

journal_title：European journal of pediatrics

authors： Ferreiro C,Piepsz A,Nogarède C,Tondeur M,Hainaut M,Levy J

更新日期：2013-09-01 00:00:00

abstract：UNLABELLED:Transient hypothyroxinaemia with normal thyroid stimulating hormone (TSH) levels is a well-known condition in preterm neonates and is generally assumed to be a harmless epiphenomenon of prematurity. This assumption is, however, based on studies that included very few neonates with a gestational age (GA) belo...

journal_title：European journal of pediatrics

authors： Rooman RP,Du Caju MV,De Beeck LO,Docx M,Van Reempts P,Van Acker KJ

更新日期：1996-03-01 00:00:00

abstract：UNLABELLED:Cystic adenomatoid malformation of the lung (CAML) is a rare pulmonary maldevelopment resulting from an abnormal growth of the terminal bronchial structures. This study proposes a possible management of prenatally diagnosed CAML. A group of nine cases of CAML diagnosed prenatally between January 1990 and Dec...

journal_title：European journal of pediatrics

authors： Bagolan P,Nahom A,Giorlandino C,Trucchi A,Bilancioni E,Inserra A,Gambuzza G,Spina V

更新日期：1999-11-01 00:00:00

abstract：:Growth hormone (GH) secretion was determined by evaluating ultradian GH profiles for 12 h and GH responses to insulin stimulated hypoglycaemia (ITT) in 28 stunted boys with beta-thalassaemia major aged 15.2-17.4 years, who presented with pubertal failure (FP). Healthy non thalassaemia prepubertal boys (n = 10) aged 7....

journal_title：European journal of pediatrics

authors： Chatterjee R,Katz M,Cox T,Bantock H

更新日期：1993-09-01 00:00:00

abstract：UNLABELLED:Severe head injuries in children (under 15 years of age) have many features that differentiate them from head injuries in adults. In such cases, non-surgical treatment cannot always prevent fatal herniation. We report on seven cases of children with severe head injury, presenting with decorticate posturing a...

journal_title：European journal of pediatrics

authors： Hejazi N,Witzmann A,Fae P

更新日期：2002-02-01 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：: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

authors： Hadders-Algra M,Huisjes HJ,Touwen BC

更新日期：1988-06-01 00:00:00

abstract：:Twenty patients with enzymatically proven glycogen storage disease type III (GSD III) aged 3-30 years underwent cardiological evaluation. Seventeen showed subclinical evidence of cardiac involvement in form of ventricular hypertrophy on ECG. Of 16 patients in whom an ECG examination was performed, 13 had abnormal echo...

journal_title：European journal of pediatrics

authors： Moses SW,Wanderman KL,Myroz A,Frydman M

更新日期：1989-08-01 00:00:00

abstract：:W170, i.e., the work rate at a heart frequency of 170 beats per minute, and maximal oxygen uptake were determined in one performance in 20 boys and 23 girls from 6 to 16 years of age on a bicycle ergometer. The results were related to normal values according to age and height. In different age and sex groups correlati...

journal_title：European journal of pediatrics

authors： Mocellin R,Bastanier C

更新日期：1976-06-08 00:00:00

abstract：UNLABELLED:We describe two adolescent girls with a congenital portosystemic shunt who exhibited hyperandrogenism in addition to insulin resistant hyperinsulinaemia. Case 1 was referred to our clinic to undergo a routine clinical work-up prior to tonsillectomy at 14 years of age. Mild liver dysfunction was identified an...

journal_title：European journal of pediatrics

authors： Satoh M,Yokoya S,Hachiya Y,Hachiya M,Fujisawa T,Hoshino K,Saji T

更新日期：2001-05-01 00:00:00

abstract：:Vitamin K prophylaxis in infancy aims to prevent life-threatening vitamin K deficiency bleeding (VKDB). The Dutch prophylactic oral daily regimen was increased sixfold from 25 to 150 μg because of a high failure rate. To evaluate the efficacy of this new regimen, incidences of intracranial VKDB under both regimens wer...

journal_title：European journal of pediatrics

authors： Löwensteyn YN,Jansen NJG,van Heerde M,Klein RH,Kneyber MCJ,Kuiper JW,Riedijk MA,Verlaat CWM,Visser IHE,van Waardenburg DA,van Hasselt PM

更新日期：2019-07-01 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

authors： Lackner H,Benesch M,Schagerl S,Kerbl R,Schwinger W,Urban C

更新日期：2000-10-01 00:00:00

abstract：:In 238 boys with cryptorchidism, between the ages of 4 and 48 months, luteinizing hormone releasing hormone (LHRH) was administered as nasal spray 1.2 mg/day for 4 weeks. The nonresponders received human chorionic gonadotropin (HCG) 500 I.U. i.m. three times a week for 3 weeks. With the combined treatment 37.8% of tes...

journal_title：European journal of pediatrics

authors： Lala R,Matarazzo P,Chiabotto P,de Sanctis C,Canavese F,Hadziselimovic F

更新日期：1993-01-01 00:00:00

abstract：UNLABELLED:A suprasellar arachnoid cyst may cause disorders of growth, puberty and hypothalamic-pituitary function, due to the proximity of the cyst to the hypothalamic-pituitary area. A total of 30 patients (17 boys) with cyst diagnosed at 4.3 +/- 1 years were routinely evaluated at 5.4 +/- 1 years; 24 of them had one...

journal_title：European journal of pediatrics

authors： Adan L,Bussières L,Dinand V,Zerah M,Pierre-Kahn A,Brauner R

更新日期：2000-05-01 00:00:00

abstract：:The aim of this study was to evaluate the feasibility of clinical application of infrared thermography (IRT) in the pediatric population and to identify pathological states that can be diagnosed as well as followed up using this non-invasive technique. In real time computer-assisted IRT, 483 examinations were performe...

journal_title：European journal of pediatrics

authors： Saxena AK,Willital GH

更新日期：2008-07-01 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：UNLABELLED:Inflammation of the gastric and duodenal mucosa is the end result of an imbalance between mucosal defensive and aggressive factors. The degree of inflammation and imbalance between defensive and aggressive factors can then result in varying degrees of gastritis and/or frank mucosal ulceration. Gastritis and ...

journal_title：European journal of pediatrics

authors： Blecker U,Gold BD

更新日期：1999-07-01 00:00:00