Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.

abstract：:The effects of intravenous injections of the opiate antagonist naloxone (0.005-0.4 mg/kg body weight) on respiratory pattern, apnoea duration and frequency were investigated in six infants with severe sleep apnoea syndrome. Since several authors found elevated plasma- and CSF-levels of endogenous opioids (endorphines)...

journal_title：European journal of pediatrics

authors： Haidmayer R,Kerbl R,Meyer U,Kerschhaggl P,Kurz R,Kenner T

更新日期：1986-10-01 00:00:00

abstract：UNLABELLED:High-flow nasal cannula (HFNC) is a widely used ventilatory support in children with bronchiolitis in the intensive care setting. No data is available on HFNC use in the general pediatric ward. The aim of this study was to evaluate the feasibility of HFNC oxygen therapy in infants hospitalized in a pediatric...

journal_title：European journal of pediatrics

authors： Bressan S,Balzani M,Krauss B,Pettenazzo A,Zanconato S,Baraldi E

更新日期：2013-12-01 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

authors： Royce PM,Steinmann B,Vogel A,Steinhorst U,Kohlschuetter A

更新日期：1990-04-01 00:00:00

abstract：UNLABELLED:We studied the clinical and biochemical factors associated with surfactant dysfunction and factors affecting the responsiveness to exogenous surfactant among 27 neonates with haemorrhagic pulmonary oedema (HPE). HPE was defined as the presence of a large amount of blood-stained lung effluent and respiratory ...

journal_title：European journal of pediatrics

authors： Amizuka T,Shimizu H,Niida Y,Ogawa Y

更新日期：2003-10-01 00:00:00

abstract：:The unfavorable impact of prematurity on the developing cerebellum was recently recognized, but the outcome after impaired cerebellar development as a prematurity-related complication is hitherto not adequately documented. Therefore we compared 31 preterm patients with disrupted cerebellar development to a control gro...

journal_title：European journal of pediatrics

authors： Messerschmidt A,Fuiko R,Prayer D,Brugger PC,Boltshauser E,Zoder G,Sterniste W,Weber M,Birnbacher R

更新日期：2008-10-01 00:00:00

abstract：:The renal function of 12 patients with non vitamin B12 responsive methylmalonic acidaemia has been investigated. Eight patients had reduced glomerular filtration rates, but the plasma creatinine concentration was only raised in those with values of less than 40 ml/min per 1.73 m2 surface area. The reduction in glomeru...

journal_title：European journal of pediatrics

authors： Walter JH,Michalski A,Wilson WM,Leonard JV,Barratt TM,Dillon MJ

更新日期：1989-01-01 00:00:00

abstract：:The aim of this study was to determine whether macrosomia related to maternal diabetes alters lipoprotein metabolism and whether these abnormalities still persist or regress after 1 month of life. Serum lipoprotein compositions and concentrations as well as serum lipid fatty acid compositions were investigated in macr...

journal_title：European journal of pediatrics

authors： Merzouk H,Madani S,Prost J,Loukidi B,Meghelli-Bouchenak M,Belleville J

更新日期：1999-09-01 00:00:00

abstract：:Children affected with acute myocarditis may progress rapidly into profound ventricular dysfunction and ventricular arrhythmias. The objective of this study is to assess the impact of ventricular arrhythmias on in-hospital mortality and the use of mechanical circulatory support in patients with myocarditis. Pediatric ...

journal_title：European journal of pediatrics

authors： Othman HF,Byrnes J,Elsamny E,Hamzah M

更新日期：2020-11-01 00:00:00

abstract：:To compare the efficacy of low dose fentanyl infusion and 24% oral sucrose in providing optimal pain relief during laser for retinopathy of prematurity (ROP), we enrolled fifty-eight spontaneously breathing preterm infants undergoing laser. The preterm infants were randomized to either fentanyl infusion (1 mcg/kg/hr) ...

journal_title：European journal of pediatrics

authors： Sethi A,Sankar MJ,Kulkarni S,Thukral A,Chandra P,Agarwal R

更新日期：2020-02-01 00:00:00

abstract：:Hypoglycaemia in children can be a life-threatening situation that needs to be assessed rigorously in order to treat efficiently and avoid relapse that can be responsible for cerebral damage. The diagnosis of impairment in glucose homeostasis requires the knowledge of the mechanisms regulating blood glucose concentrat...

journal_title：European journal of pediatrics

authors： Valayannopoulos V,Romano S,Mention K,Vassault A,Rabier D,Polak M,Robert JJ,de Keyzer Y,de Lonlay P

更新日期：2008-03-01 00:00:00

abstract：:Familial hemophagocytic lymphohistiocytosis (FHL) is probably a genetically transmitted disease affecting infants and very young children. Cardinal symptoms are fever, hepatosplenomegaly, and pancytopenia. Frequently meningeal involvement is seen, manifested by neurologic symptoms and a lymphohistiocytic pleocytosis w...

journal_title：European journal of pediatrics

authors： Janka GE

更新日期：1983-06-01 00:00:00

abstract：:Two patients with chronic granulomatous disease who had previously been intolerant to trimethoprim-sulfamethoxazole because of various adverse reactions completed a desensitisation protocol with a favourable clinical outcome. ...

journal_title：European journal of pediatrics

authors： Hasui M,Kotera F,Tsuji S,Yamamoto A,Taniuchi S,Fujikawa Y,Nakajima M,Yoshioka A,Kobayashi Y

更新日期：2002-06-01 00:00:00

abstract：:Despite advancement in medical care, Rh alloimmunisation remains a major cause of neonatal hyperbilirubinaemia, neuro-morbidity, and late-onset anaemia. Delayed cord clamping (DCC), a standard care now-a-days, is yet not performed in Rh-alloimmunised infants due to paucity of evidence. Hence, we randomised these infan...

journal_title：European journal of pediatrics

authors： Sahoo T,Thukral A,Sankar MJ,Gupta SK,Agarwal R,Deorari AK,Paul VK

更新日期：2020-06-01 00:00:00

abstract：:Staphylococcus saprophyticus commonly causes urinary tract infection (UTI) in young women; in males it is found mainly in the elderly. In this study S. saprophyticus UTI occurred in 59 children (45 girls and 14 boys) below 16 years of age, of whom 20 were less than 13 years of age. The common presentation was dysuria ...

journal_title：European journal of pediatrics

authors： Abrahamsson K,Hansson S,Jodal U,Lincoln K

更新日期：1993-01-01 00:00:00

abstract：UNLABELLED:The true burden of influenza in children is difficult to assess and is probably underestimated as clinical signs are usually nonspecific, and formal viral identification is rarely searched. In this study, we compare the clinical features of infections related to the new H1N1/09 influenza virus with infection...

journal_title：European journal of pediatrics

authors： Crisinel PA,Barazzone C,Kaiser L,L'Huillier AG,Taguebue J,Wagner N,Delcò C,Siegrist CA,Posfay-Barbe KM,H1N1 Pediatric Epidemiology Study Group.

更新日期：2012-01-01 00:00:00

abstract：UNLABELLED:Acid reflux and/or oesophagitis may be responsible for inconsolable crying in infants. We evaluated prospectively the presence of acid reflux disease, oesophagitis and the accuracy of pH monitoring in the prediction of oesophagitis in a population of irritable infants. A 24-h oesophageal pH monitoring with a...

journal_title：European journal of pediatrics

authors： Vandenplas Y,Badriul H,Verghote M,Hauser B,Kaufman L

更新日期：2004-06-01 00:00:00

abstract：:Using a randomized double blind study design, the bronchodilating effect of 200 micrograms inhaled oxitropium bromide (OB) was compared with 200 micrograms inhaled fenoterol (F) after an interval of 20 min, in 20 asthmatic children aged 12.7 years (range: 4.9-15.1 years), suffering from mild bronchoconstriction (mean ...

journal_title：European journal of pediatrics

authors： Van Bever HP,Desager KN,Pauwels JH,Vermeire PA

更新日期：1994-08-01 00:00:00

abstract：UNLABELLED:Paediatric care places great demands on interpersonal communication skills, especially as regards the handling of psychosocial issues. Recent shifts in paediatric morbidity and increases in patient empowerment furthermore emphasize the need for continuing paediatric education in communication skills. It is, ...

journal_title：European journal of pediatrics

authors： van Dulmen AM,Holl RA

更新日期：2000-07-01 00:00:00

abstract：:Complex regional pain syndrome (CRPS) is a condition of unknown etiology characterized by autonomic, sensory, and motor disturbance. CRPS usually follows an injury in the affected limb, which is often trivial in nature. CRPS involving the facial region is rare, and there have been no previous descriptions in children....

journal_title：European journal of pediatrics

authors： Goenka A,Aziz M,Riley P,Vassallo G

更新日期：2014-03-01 00:00:00

abstract：:Premature newborns are particularly vulnerable to iatrogenic hypothyroidism due to iodine exposure, usually through skin absorption of iodine-containing disinfectants or intravenous administration of iodinated contrast agents. We report here a case of severe iatrogenic hypothyroidism with goiter and cholestasis, disco...

journal_title：European journal of pediatrics

authors： Lombard F,Dalla-Vale F,Veyrac C,Plan O,Cambonie G,Picaud JC

更新日期：2009-04-01 00:00:00

abstract：UNLABELLED:Endocrine dysfunction and damage of the epiphysial growth plates have been reported as late effects of antileukaemic treatment during childhood. It is a common opinion that cranial irradiation (CI) is the most important factor for blunted growth. Accordingly, recent therapeutic strategies in acute lymphoblas...

journal_title：European journal of pediatrics

authors： Mohnike K,Dörffel W,Timme J,Kluba U,Aumann V,Vorwerk P,Mittler U

更新日期：1997-04-01 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

authors： de Louvois J,Dagan R,Tessin I

更新日期：1992-12-01 00:00:00

abstract：UNLABELLED:Two years after an accident resulting in either a mild head injury or a fractured bone, two groups of 22 children each, aged 4-14 years, were examined for the existence of any neurobehavioural symptoms by means of a standardized questionnaire filled out by their caretakers. Selection of the children was base...

journal_title：European journal of pediatrics

authors： Overweg-Plandsoen WC,Kodde A,van Straaten M,van der Linden EA,Neyens LG,Aldenkamp AP,Vermeulen M

更新日期：1999-03-01 00:00:00

abstract：:Paraneoplastic manifestations are signs and symptoms observed in patients with cancer, distant from the tumour or its metastases and not caused by invasion, obstruction or bulk mass. In children with cancer, paraneoplastic manifestations are rare and distinct from those observed in adults. Knowledge about paraneoplast...

journal_title：European journal of pediatrics

authors： de Graaf JH,Tamminga RY,Kamps WA

更新日期：1994-11-01 00:00:00

abstract：:Breath tests (BT) using stable isotopically labelled substrates seem to fulfill all the demands and desires for a non-invasive investigation. There are no radiation hazards, substrates are given in tracer amounts perorally, breath and urine samples can be collected easily, and tests can be done repeatedly, thus easily...

journal_title：European journal of pediatrics

authors： Rating D,Langhans CD

更新日期：1997-08-01 00:00:00

abstract：:Recently a novel and non-invasive technique of lower leg length measurement (knemometry) was introduced. The method estimates the distance between heel and knee in the sitting child with an accuracy of 0.09 mm(SD). Two female patients with anorexia nervosa, aged 14:4 and 13:7 years, weighing minus 27 and minus 38% of ...

journal_title：European journal of pediatrics

authors： Hermanussen M,Geiger-Benoit K,Sippell WG

更新日期：1987-11-01 00:00:00

abstract：:A 4-year-old boy is described with abdominal pain, emesis, weight loss, hypoproteinemia and edema. The diagnosis of Menetrier disease was made based on radiographic studies, gastroscopy and gastric biopsy. There was little response to medical treatment and enteral feedings were poorly tolerated for many weeks. Althoug...

journal_title：European journal of pediatrics

authors： Ling LJ,Hershenson MB,Young S,Traisman HS

更新日期：1986-02-01 00:00:00

abstract：UNLABELLED:In a Swiss screening programme for detection of congenital adrenal hyperplasia (CAH), 27 of over 120,000 newborns examined from 1992 to 1994 were further studied because of persistingly high 17 alpha hydroxyprogesterone (17OHP). Out of 27, 11 were later confirmed to have CAH by specific gas chromatography of...

journal_title：European journal of pediatrics

authors： Lange-Kubini K,Zachmann M,Kempken B,Torresani T

更新日期：1996-11-01 00:00:00

abstract：:The aim of the study was to assess the epidemiology and risk factors of adrenal crises (AC) in children with adrenal insufficiency (AI). Children diagnosed with AI between 1990 and 2017 at four Israeli pediatric endocrinology units were studied. Demographic and clinical data were retrieved retrospectively from their f...

journal_title：European journal of pediatrics

authors： Eyal O,Levin Y,Oren A,Zung A,Rachmiel M,Landau Z,Schachter-Davidov A,Segev-Becker A,Weintrob N

更新日期：2019-05-01 00:00:00

abstract：:A 15-year-old girl was admitted with a high fever and progressive malaise, vomiting, anorexia and abdominal complaints. She previously had a sore throat and unilateral painful swollen lymph nodes in the neck. Laboratory investigation indicated a bacterial infection. Blood cultures were taken. There was infiltrate in t...

journal_title：European journal of pediatrics

authors： van Delft E,Vandewall M,Curiel FB,Rutten MJ,Schneeberger PM

更新日期：2008-06-01 00:00:00