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：: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：INTRODUCTION:IgE-dependent activation of mast cells and basophils through the high-affinity IgE receptor (Fc(epsilon)R1) is involved in the pathogenesis of allergen-induced immune responsiveness in atopic disease including bronchial asthma. MATERIALS AND METHODS:We genotyped 650 children for allelic determinants at tw...

journal_title：European journal of pediatrics

authors： Kim ES,Kim SH,Kim KW,Park HS,Shin ES,Lee JE,Sohn MH,Kim KE

更新日期：2009-12-01 00:00:00

abstract：:A technetium-99m pertechnetate Meckel scan is the standard diagnostic test to diagnose Meckel diverticulum. Although a negative scan does not exclude Meckel diverticulum, it should be kept in mind that the diagnosis can be missed on the basis of a single negative scan. Another important point is the typical position o...

journal_title：European journal of pediatrics

authors： El-Matary W,Roseman D,Lees G,Maguire C

更新日期：2009-12-01 00:00:00

abstract：:The four-principles approach of Beauchamp and Childress has had a huge influence in many areas of medicine, including Pediatrics. There is a risk that such universalist principles fail to take into account cultural differences. This is an important point but there is a need to see the more nuanced aspects of the appro...

journal_title：European journal of pediatrics

authors： Voo TC

更新日期：2009-11-01 00:00:00

abstract：:This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/...

journal_title：European journal of pediatrics

authors： Löwik MM,Groenen PJ,Levtchenko EN,Monnens LA,van den Heuvel LP

更新日期：2009-11-01 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

authors： Pinxten W,Dierickx K,Nys H

更新日期：2009-10-01 00:00:00

abstract：:Asymptomatic excretion of group B streptococcus (GBS) in breast milk may be an underrecognized cause of neonatal and recurrent infection. We report the case of late-onset and recurrent infection in newborn twins resulting from ingestion of maternal breast milk infected with GBS. Genetic analysis of isolates is equally...

journal_title：European journal of pediatrics

authors： Gagneur A,Héry-Arnaud G,Croly-Labourdette S,Gremmo-Feger G,Vallet S,Sizun J,Quentin R,Tandé D

更新日期：2009-09-01 00:00:00

abstract：:The description and analysis of the utilisation of medical services is of particular importance reflecting childhood morbidity. Therefore, our aim was to describe episode- and person-based rates of hospital admission in Germany, by focusing on the three most important clinically relevant categories, accident injuries,...

journal_title：European journal of pediatrics

authors： Schnabel E,Sausenthaler S,Liese J,Herbarth O,Borte M,Schaaf B,Krämer U,von Berg A,Wichmann HE,Heinrich J,LISA-Study-Group.

更新日期：2009-08-01 00:00:00

abstract：INTRODUCTION:Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. CASE REPORT:We report clinical, biochemical, and molecular findings in a female newborn affected with a severe form of multiple sulfatase deficiency (Mendelian Inheritance in M...

journal_title：European journal of pediatrics

authors： Busche A,Hennermann JB,Bürger F,Proquitté H,Dierks T,von Arnim-Baas A,Horn D

更新日期：2009-08-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the e...

journal_title：European journal of pediatrics

authors： Tahirovic H,Toromanovic A,Grubic M,Grubic Z,Dumic K

更新日期：2009-07-01 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

authors： Allegaert K,Veyckemans F,Tibboel D

更新日期：2009-07-01 00:00:00

abstract：INTRODUCTION:Reduced concentrations of glucose-6-phospate dehydrogenase (G6PD) render erythrocytes susceptible to hemolysis under conditions of oxidative stress. In favism, the ingestion of fava beans induces an oxidative stress to erythrocytes, leading to acute hemolysis. DISCUSSION:The simultaneous occurrence of met...

journal_title：European journal of pediatrics

authors： Schuurman M,van Waardenburg D,Da Costa J,Niemarkt H,Leroy P

更新日期：2009-07-01 00:00:00

abstract：:The internet is an integral tool for information, communication, and entertainment among adolescents. As adolescents devote increasing amounts of time to utilizing the internet, the risk for adopting excessive and pathological internet use is inherent. The study objectives include assessing the characteristics and pre...

journal_title：European journal of pediatrics

authors： Tsitsika A,Critselis E,Kormas G,Filippopoulou A,Tounissidou D,Freskou A,Spiliopoulou T,Louizou A,Konstantoulaki E,Kafetzis D

更新日期：2009-06-01 00:00:00

abstract：:Our prior studies of the molecular epidemiology of group A streptococcus (GAS) pharyngitis indicated that the most common emm types associated with pediatric pharyngitis in North America were 12, 1, 28, and 4. We previously reported that the proportions of pediatric pharyngitis due to emm types 12 and 4 decreased with...

journal_title：European journal of pediatrics

authors： Jaggi P,Dale JB,Chiang E,Beniwal P,Kabat W,Shulman ST

更新日期：2009-06-01 00:00:00

abstract：:We report a case of an infected subgaleal hematoma caused by an unusual micro-organism in a previously healthy 11-month-old girl. Our patient presented at the emergency department with an increasing scalp swelling for 2 weeks, and culture of the evacuated fluid yielded Streptococcus pneumoniae. Although she was born a...

journal_title：European journal of pediatrics

authors： Slap F,Jeurissen A,Van Havenbergh T,Deckers F,Mariën P,Van Mol C

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:We aimed to determine the status of and factors associated with adolescent health care delivery and training in Europe on behalf of the European Paediatric Association-UNEPSA. MATERIALS AND METHODS:A questionnaire was mailed to the presidents of 48 national paediatric societies in Europe. For statistical an...

journal_title：European journal of pediatrics

authors： Ercan O,Alikasifoglu M,Erginoz E,Janda J,Kabicek P,Rubino A,Constantopoulos A,Ilter O,Vural M

更新日期：2009-04-01 00:00:00

abstract：:Perinatal transmission remains the main cause of HIV infection in the pediatric population. Treatment of HIV-infected children has become less of a problem in resource-rich countries with a remarkable decrease of perinatal infections, resulting in an effective prevention of mother-to-child transmission and antiretrovi...

journal_title：European journal of pediatrics

authors： Brichard B,Van der Linden D

更新日期：2009-04-01 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：:Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset ad...

journal_title：European journal of pediatrics

authors： Yang F,Hanaki K,Kinoshita T,Kawashima Y,Nagaishi J,Kanzaki S

更新日期：2009-03-01 00:00:00

abstract：:We report a 28-day-old female infant with pertussis presenting as severe acute bronchiolitis with cyanosis. On admission, the patient's symptoms were similar to those of acute bronchiolitis. However, occasional apneic episodes with cyanosis and peripheral lymphocytosis suggested neonatal pertussis and prompted us to e...

journal_title：European journal of pediatrics

authors： Nakamura A,Sakano T,Nakayama T,Shimoda H,Okada Y,Hanayama R,Nomoto K,Suto T,Kinoshita Y,Furue T,Ono H,Ohta T

更新日期：2009-03-01 00:00:00

abstract：:In comparison with other diseases, febrile convulsion, despite its excellent prognosis, is a cause of high anxiety among mothers. The objective of our study was to evaluate the knowledge, concerns, attitudes and practices of the mothers of children with first febrile convulsion. A prospective questionnaire-based study...

journal_title：European journal of pediatrics

authors： Kolahi AA,Tahmooreszadeh S

更新日期：2009-02-01 00:00:00

abstract：:Renal tubular dysgenesis is a critical disorder characterized by the Potter phenotype and severe hypotension in the early neonatal period. We herein report a 3-year-old female with renal tubular dysgenesis. Endocrinological studies showed a high plasma renin activity (over 49.2 ng/ml/h; normal range 2.0-15.2), high ac...

journal_title：European journal of pediatrics

authors： Uematsu M,Sakamoto O,Ohura T,Shimizu N,Satomura K,Tsuchiya S

更新日期：2009-02-01 00:00:00

abstract：:Female genital mutilation (FGM) is defined as an injury of the external female genitalia for cultural or non-therapeutic reasons. FGM is mainly performed in sub-Saharan and Eastern Africa. The western health care systems are confronted with migrants from this cultural background. The aim is to offer information on how...

journal_title：European journal of pediatrics

authors： Jaeger F,Caflisch M,Hohlfeld P

更新日期：2009-01-01 00:00:00

abstract：:A 4-month-old boy was admitted for having diffuse eruption in the perianal region, legs, trunk hands, and face with failure to thrive, edema, hypoalbuminemia, and anemia. The patient was thought to have acrodermatitis enteropathica-like eruption due to malabsorption. The eruption completely resolved with enzyme supple...

journal_title：European journal of pediatrics

authors： Pekcan S,Kose M,Dogru D,Sekerel B,Atakan N,Ozcelik U,Cobanoglu N,Yalcin E,Kiper N

更新日期：2009-01-01 00:00:00

abstract：:Discoloration of the leg following vaccination is a relatively unknown entity. We carried out a study of discolored leg syndrome (DLS) during a 10-year consecutive period with the objective of characterizing DLS in infants following vaccination received in the Dutch National Vaccination Program as well as its occurren...

journal_title：European journal of pediatrics

authors： Kemmeren JM,Vermeer-de Bondt PE,van der Maas NA

更新日期：2009-01-01 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：:No previous studies have focused on postoperative fat malabsorption in children with choledochal cyst (CC) who undergo cyst excision and Roux-en-Y (RY) hepatico-jejunostomy (HJ), a combination of procedures that can lead to the non-physiological mixture of food and bile juice. To examine the effect of RYHJ with cholec...

journal_title：European journal of pediatrics

authors： Suzuki M,Tanaka K,Ohtani K,Kitamura K,Kudo T,Shoji H,Suzuki R,Shimizu T

更新日期：2009-01-01 00:00:00

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：:We report two children with hemolytic anemia during the course of hepatitis A infection. On admission, the patients had high blood urea nitrogen, creatinine, and uric acid levels, as well as anemia, leucocytosis, and direct and indirect hyperbilirubinemia. Both patients had a glucose-6-phosphate dehydrogenase deficien...

journal_title：European journal of pediatrics

authors： Ozbay Hosnut F,Ozcay F,Selda Bayrakci U,Avci Z,Ozbek N

更新日期：2008-12-01 00:00:00

abstract：:Blunt cardiac injury may occur in patients after suffering nonpenetrating trauma of the chest. It encompasses a wide spectrum of cardiac injury with varied severity and clinical presentation. Electrocardiographic abnormalities are frequently encountered. This article presents a case of a child who presented with compl...

journal_title：European journal of pediatrics

authors： Udink ten Cate FE,van Heerde M,Rammeloo LA,Hruda J

更新日期：2008-11-01 00:00:00

abstract：:Septo-optic dysplasia (SOD) is a heterogeneous brain midline anomaly associated with ophthalmological, endocrinological, and/or neurodevelopmental symptoms. The clinical phenotype correlates with abnormal brain magnetic resonance imaging (MRI) findings. However, variations of the septum pellucidum (SP) appearance and ...

journal_title：European journal of pediatrics

authors： Riedl S,Vosahlo J,Battelino T,Stirn-Kranjc B,Brugger PC,Prayer D,Müllner-Eidenböck A,Kapelari K,Blümel P,Waldhör T,Krasny J,Lebl J,Frisch H

更新日期：2008-11-01 00:00:00

abstract：:WHO-Europe's goal is to eliminate measles and rubella by 2010 which will require a coverage rate of 95% for both MMR-vaccine doses. Belgian recommendations include a first MMR vaccine at 12 months and a second at 10-12 years of age. To survey MMR vaccination coverage, EPI two-stage random cluster samples of 1,500 todd...

journal_title：European journal of pediatrics

authors： Vandermeulen C,Roelants M,Theeten H,Van Damme P,Hoppenbrouwers K

更新日期：2008-10-01 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：:GB virus C (GBV-C) is a blood-borne flavivirus. The prevalence of GBV-C viremia among healthy adults is 0.5% to 4% and, to date, no disease has been definitely associated with GBV-C infection. We conducted a cross-sectional study to evaluate GBV-C viremia prevalence in a group of 327 healthy children with normal alani...

journal_title：European journal of pediatrics

authors： Claret G,Noguera A,González-Cuevas A,García-García JJ,Fortuny C,Muñoz-Almagro C

更新日期：2008-09-01 00:00:00

abstract：:Rhabdomyolysis induced acute renal failure (ARF) is relatively rare in children. We report an 8-year-old boy with McArdle disease and rhabdomyolysis induced ARF after heavy muscle work. Physical examination revealed generalized tenderness on his extremities. Laboratory examinations showed acute renal failure due to my...

journal_title：European journal of pediatrics

authors： Delibaş A,Bek K,Ezgü FS,Demircin G,Oksal A,Oner A

更新日期：2008-08-01 00:00:00

abstract：:Consanguinity is not the only factor influencing the occurrence of autosomal recessive disorders such as familial Mediterranean fever (FMF). The extended, multiple consanguineous Turkish pedigree presented here demonstrates that the population frequency of certain mutations (so-called "ancient" mutations) can be at le...

journal_title：European journal of pediatrics

authors： Seidel H,Steinlein OK

更新日期：2008-07-01 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：:We report on a 3-year-old boy presenting with left-sided eyelid myocloni due to an intracranial abscess harboring Haemophilus paraphrophilus. This is the first description of an intracranial infection with this pathogen in a child. ...

journal_title：European journal of pediatrics

authors： Hoefele J,Kroener C,Berweck S,Peraud A,Grabein B,Wintergerst U,Liese J

更新日期：2008-06-01 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