Oral zinc sulphate as primary therapeutic intervention in a child with Wilson disease.

abstract：:In Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as growth hormone deficiency (GHD), hypogonadism, and delayed or incomplete puberty. Only a few cases of central precocious puberty (CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of ch...

journal_title：European journal of pediatrics

authors： Crinò A,Di Giorgio G,Schiaffini R,Fierabracci A,Spera S,Maggioni A,Gattinara GC

更新日期：2008-12-01 00:00:00

abstract：:The aim of the study was to explore what adolescents with congenital heart disease (CHD) view as important in the preparation for the transfer to adult care. We performed interviews in four focus groups with adolescents (14-18 years old) at four university hospitals in Sweden. Data was analysed using qualitative conte...

journal_title：European journal of pediatrics

authors： Burström Å,Bratt EL,Frenckner B,Nisell M,Hanséus K,Rydberg A,Öjmyr-Joelsson M

更新日期：2017-07-01 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 four cases of acute idiopathic scrotal oedema, an underreported cause of acute painless or moderately painfull swelling and erythema of the scrotum in young boys. It is a self-limiting disease and to prevent unnecessary surgical exploration or antibiotic therapy, it is very important to distinguish acute idi...

journal_title：European journal of pediatrics

authors： van Langen AM,Gal S,Hulsmann AR,De Nef JJ

更新日期：2001-07-01 00:00:00

abstract：UNLABELLED:In phenylketonuria, compliance and diet is a difficult issue; it is hard to quantify and is under-researched. It is influenced by many factors. Failure to consume prescribed quantity of protein substitute has been commonly reported and is probably affected by their acceptability, format and timing of adminis...

journal_title：European journal of pediatrics

authors： MacDonald A

更新日期：2000-10-01 00:00:00

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：:Our aim was to assess the utility of serum thyroxine and thyroid stimulating hormone performed at 10-14 days of life in diagnosing congenital hypothyroidism (CH) in babies born to mothers with hypothyroidism. This was a retrospective study of all babies born in a tertiary referral centre for neonatology over a 12-mont...

journal_title：European journal of pediatrics

authors： McGovern M,Reyani Z,O'Connor P,White M,Miletin J

更新日期：2016-12-01 00:00:00

abstract：:Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a ha...

journal_title：European journal of pediatrics

authors： Spranger J,Cantz M,Gehler J,Liebaers I,Theiss W

更新日期：1978-08-17 00:00:00

abstract：:The neonatal early onset sepsis (EOS) calculator is a novel tool for antibiotic stewardship in newborns, associated with a reduction of empiric antibiotic treatment for suspected EOS. We studied if implementation of the EOS calculator results in less healthcare utilization and lower financial costs of suspected EOS. F...

journal_title：European journal of pediatrics

authors： Achten NB,Visser DH,Tromp E,Groot W,van Goudoever JB,Plötz FB

更新日期：2020-05-01 00:00:00

abstract：UNLABELLED:Bone mineralization of healthy preterm infants fed human milk were compared with that of similar fed preterm formula. Bone mineralization was studied by dual energy X-ray absorptiometry in 43 preterm infants divided into two groups; 21 preterm infants were fed with maternal breast milk and 22 preterm infants...

journal_title：European journal of pediatrics

authors： Alpay F,Unay B,Narin Y,Akin R,Inanç N,Ozcan O,Gökçay E

更新日期：1998-06-01 00:00:00

abstract：:The name of the co-author Wendy J. Ungar was inadvertently omitted on the original published article. Her name and affiliation have now been added to the author list. ...

journal_title：European journal of pediatrics

authors： Blanken MO,Frederix GW,Ungar WJ,Nibbelke EE,Koffijberg H,Sanders EAM,Rovers MM,Bont L,Dutch RSV Neonatal Network.

更新日期：2020-02-01 00:00:00

abstract：:Medical clowns have an important role in helping patients cope with their pain and distress. This is especially true in the pediatric population. However, their activity in a disaster area is unheard of. Following the Nepal earthquake in 2015, the Israeli field hospital set up in Kathmandu, Nepal was joined by five vo...

journal_title：European journal of pediatrics

authors： Ilan U,Davidov A,Mendlovic J,Weiser G

更新日期：2018-02-01 00:00:00

abstract：:A girl, now three years old, is reported, in whom at the age of 5 months the diagnosis of 3-HMG-CoA lyase deficiency was established. The characteristic excretion pattern consisted of 3-HMG, 3-CH3-glutaconic acid, 3-CH3-glutaric acid and 3-HIVA. Activity of 3-HMG-CoA lyase in leucocytes was very low. She had compensat...

journal_title：European journal of pediatrics

authors： Leupold D,Bojasch M,Jakobs C

更新日期：1982-02-01 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：:To elucidate the basis for the recurrent infections in patients with glycogen storage disease (GSD) Ib we tested polymorphonuclear leukocyte (PMN) function in one patient. Bactericidal capacity and phagocytosis-induced O2 consumption were reduced. Also, phorbol myristate acetate-stimulated superoxide production and gl...

journal_title：European journal of pediatrics

authors： Gahr M,Heyne K

更新日期：1983-09-01 00:00:00

abstract：UNLABELLED:Children's right to access safe and effective medicines is recognised globally. Ethanol, used in paediatric liquid formulations as a solvent and preservative, is associated with safety concerns with respect to both acute ingestion and chronic exposure. In addition, families may have cultural or religious val...

journal_title：European journal of pediatrics

authors： Svirskis D,Toh M,Ram S

更新日期：2013-07-01 00:00:00

abstract：:We have previously shown that breast-fed infants have a considerably larger thymus at 4 months than formula-fed infants. The aim of the present study was to investigate whether breast-feeding also influences the thymic size in late infancy. In a cohort of 50 infants, all being partially breast-fed when recruited at 8 ...

journal_title：European journal of pediatrics

authors： Hasselbalch H,Engelmann MD,Ersboll AK,Jeppesen DL,Fleischer-Michaelsen K

更新日期：1999-12-01 00:00:00

abstract：UNLABELLED:Infection is a well recognised cause of spontaneous early preterm labour. Preterm labour of infective aetiology is refractory to the use of tocolytic agents and affected women have a higher risk of subsequent chorio-amnionitis and neonatal infection. Antibiotics used prophylactically for the prevention of pr...

journal_title：European journal of pediatrics

authors： Lamont RF

更新日期：1999-12-01 00:00:00

abstract：:A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia. ...

journal_title：European journal of pediatrics

authors： Drummond D,Lenoir M,Petit AY

更新日期：2012-07-01 00:00:00

abstract：:This study was conducted to assess the clinical spectrum, management, and outcome of SARS-CoV-2-related multisystem inflammatory syndrome in children (MIS-C). We reviewed medical records of children with MIS-C diagnosis seen at the Children's Hospital of Michigan in Detroit between April and June 2020. Thirty-three ch...

journal_title：European journal of pediatrics

authors： Abdel-Haq N,Asmar BI,Deza Leon MP,McGrath EJ,Arora HS,Cashen K,Tilford B,Charaf Eddine A,Sethuraman U,Ang JY

更新日期：2021-01-16 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：:The number of infants born preterm including extremely premature babies is rising worldwide, particularly in low- and middle-income countries, which challenge neonatologists and milk banks for the provision of the most adequate nutrition for successful infant's growth and development. The benefits of mother's own milk...

journal_title：European journal of pediatrics

authors： Sánchez Luna M,Martin SC,Gómez-de-Orgaz CS

更新日期：2020-11-27 00:00:00

abstract：UNLABELLED:Children with a painful hip present a diagnostic challenge since clinical differentiation between septic arthritis, transient synovitis and Perthes disease may be difficult. Septic arthritis, a potentially life-threatening and debilitating medical emergency, requires early recognition for successful treatmen...

journal_title：European journal of pediatrics

authors： Eich GF,Superti-Furga A,Umbricht FS,Willi UV

更新日期：1999-11-01 00:00:00

abstract：:Five patients, 11 months to 3 4/12 years old with severe normochromic, normocytis anemia and reticulocytopenia are reported. At the height of erythropoietic arrest when erythroid precursor cells were completely absent, undifferentiated stem cells (transitional cells), accumulated in the bone marrow. They disappeared a...

journal_title：European journal of pediatrics

authors： Tillmann W,Prindull G,Schröter W

更新日期：1976-08-16 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：:Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 19...

journal_title：European journal of pediatrics

authors： Milenkovic T,Zdravkovic D,Savic N,Todorovic S,Mitrovic K,Koehler K,Huebner A

更新日期：2010-11-01 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

authors： Folgering H,Boon J

更新日期：1986-04-01 00:00:00

abstract：UNLABELLED:Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally ...

journal_title：European journal of pediatrics

authors： Lang-Muritano M,Biason-Lauber A,Gitzelmann C,Belville C,Picard Y,Schoenle EJ

更新日期：2001-11-01 00:00:00

abstract：:Mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria is associated with mutations in SUCLA2, the gene encoding a beta subunit of succinate-CoA ligase, where 17 patients have been reported. Mutations in SUCLG1, encoding the alpha subunit of the enzyme, have been reported in only one family,...

journal_title：European journal of pediatrics

authors： Ostergaard E,Schwartz M,Batbayli M,Christensen E,Hjalmarson O,Kollberg G,Holme E

更新日期：2010-02-01 00:00:00

abstract：:Of all newborn infants, 5% require some degree of basic life support at birth. Newborn resuscitation therefore is one of the most frequent procedures carried out in medicine. It is therefore important that the routines in use are evidence based. Newborn resuscitation can be divided into ten steps: (1) initial stabilis...

journal_title：European journal of pediatrics

authors： Saugstad OD

更新日期：1998-01-01 00:00:00