A family of selective immunodeficiency with normal immunoglobulins: possible autosomal dominant inheritance.

abstract：UNLABELLED:Recent evidence has demonstrated the prenatal initiation of childhood obesity as epidemiological studies and animal studies have illustrated the effect of the intrauterine milieu for subsequent development of childhood obesity. This study investigates the relationship between severe childhood obesity and the...

journal_title：European journal of pediatrics

authors： Lausten-Thomsen U,Bille DS,Nässlund I,Folskov L,Larsen T,Holm JC

更新日期：2013-06-01 00:00:00

abstract：:Monocytes play an essential role in cellular host defense as circulating phagocytes, as well as precursors of macrophages. We investigated the principal phagocytic activities in monocytes from cord blood of term infants by analysing adherence, random migration, chemotaxis, bactericidal activity, phagocytosis-associate...

journal_title：European journal of pediatrics

authors： Speer CP,Wieland M,Ulbrich R,Gahr M

更新日期：1986-10-01 00:00:00

abstract：UNLABELLED:The aim of this study is to give a systematic overview on publications having investigated the allergy preventive effect of extensively and/or partially hydrolysed infant formulas. Publications were searched by several strategies. Inclusion criteria were: prospective cohort study, randomisation, family histo...

journal_title：European journal of pediatrics

authors： Schoetzau A,Gehring U,Wichmann HE

更新日期：2001-06-01 00:00:00

abstract：:To assess the adrenocortical response of premature infants to alterations in sodium balance, the postnatal course of plasma progesterone, 11-deoxycorticosterone, corticosteronoe, aldosterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol and cortisone was compared in healthy premature infants kept on low (1-2 mEq...

journal_title：European journal of pediatrics

authors： Sulyok E,Dörr HG,Ertl T,Gyódi G

更新日期：1988-12-01 00:00:00

abstract：:The present study was done to evaluate the effect of short-term dietary therapy on 148 dyslipidaemic children (24 familial hypercholesterolaemia, 105 non-familial hypercholesterolaemia and 19 hypertriglyceridaemia), detected by mass screening in children at 18 months of age. In the model diet used for treatment, 15% o...

journal_title：European journal of pediatrics

authors： Ohta T,Nakamura R,Ikeda Y,Hattori S,Matsuda I

更新日期：1993-11-01 00:00:00

abstract：:It is rare that coloboma, heart anomalies, choanal atresia, retarded growth and development, and genital and ear anomalies (CHARGE) syndrome patients have DiGeorge sequence showing severe immunodeficiency due to the defect of the thymus. Although the only treatment to achieve immunological recovery for these patients ...

journal_title：European journal of pediatrics

authors： Inoue H,Takada H,Kusuda T,Goto T,Ochiai M,Kinjo T,Muneuchi J,Takahata Y,Takahashi N,Morio T,Kosaki K,Hara T

更新日期：2010-07-01 00:00:00

abstract：:We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications. ...

journal_title：European journal of pediatrics

authors： Kunze J,Heyne K,Wiedemann HR

更新日期：1979-06-28 00:00:00

abstract：:Sedentary behavior contributes to increased atherosclerotic risk in adults. Whether or not this can be extended to pediatric populations is unclear. This systematic review assessed associations of sedentary behavior with large artery structure and function in pediatric populations. MEDLINE, EMBASE, CENTRAL, and Web of...

journal_title：European journal of pediatrics

authors： Königstein K,Klenk C,Appenzeller-Herzog C,Hinrichs T,Schmidt-Trucksäss A

更新日期：2020-01-01 00:00:00

abstract：:Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC...

journal_title：European journal of pediatrics

authors： Staretz-Chacham O,Aviram M,Morag I,Goldbart A,Hershkovitz E

更新日期：2018-11-01 00:00:00

abstract：:We aimed to demonstrate the value of monitoring infants with arteriovenous malformation (AVM) during endovascular embolization with integrated evaluation of hemodynamics (IEH) and guiding decisions according to the underlying pathophysiology. This is a retrospective analysis of the perioperative hemodynamics data for ...

journal_title：European journal of pediatrics

authors： Selim A,El Wahab AA,Salem H,Yahmadi MA,Al Aisary S,Malviya M,ALhabsi A,Elsayed Y

更新日期：2021-01-01 00:00:00

abstract：:As simple and nonsurgical means of differentiating biliary atresia (BA) from intrahepatic cholestasis of unknown origin (IC), liver function tests including serum lipoprotein-X (LP-X) and gamma-glutamyltranspeptidase (GGTP) were done and evaluated for their usefulness in the diagnosis of 27 cholestatic Japanese young ...

journal_title：European journal of pediatrics

authors： Tazawa Y,Yamada M,Nakagawa M,Tada K,Konno T,Ohi R,Kasai M

更新日期：1986-04-01 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：:Early diagnosis and treatment of phenylketonuria (PKU) in Poland was started in 1965, initially on a voluntary and then on a obligatory basis. Guthrie tests have been used for newborn screening. For confirmation of diagnosis changing with time methods of blood phenylalanine (Phe) and tyrosine estimation were used. In ...

journal_title：European journal of pediatrics

authors： Cabalska MB,Nowaczewska I,Sendecka E,Zorska K

更新日期：1996-07-01 00:00:00

abstract：:A partial deletion of the short arm of chromosome 9 is reported in a female newborn and a 12.5 year-old male. The features expressed by both patients, and especially the peculiar type of the craniofacial dysmorphism, confirm the existence of a typical clinical syndrome associated with this partial autosomal monosomy. ...

journal_title：European journal of pediatrics

authors： Fryns JP,Pedersen JC,Duyck H,Fabry G,Van den Berghe H

更新日期：1980-09-01 00:00:00

abstract：:We present an infant with Dubowitz syndrome diagnosed at birth and followed for 2 years. Presence of the syndrome was suspected at birth on the basis of the anthropometric data and peculiar facial appearance. However, during the follow-up period some changes in the appearance have taken place. It is suggested that the...

journal_title：European journal of pediatrics

authors： Shuper A,Merlob P,Weitz R,Varsano I

更新日期：1986-04-01 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：UNLABELLED:In 135 women and 85 men who initially presented for tall stature, the outcome in treated (56 women and 33 men; cases) and untreated (controls) was investigated. At the time of height prediction, cases were significantly taller (P < or = 0.03) than the controls, they had higher target heights (P < 0.001) and ...

journal_title：European journal of pediatrics

authors： Binder G,Grauer ML,Wehner AV,Wehner F,Ranke MB

更新日期：1997-12-01 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：:Haemostasis was studied in 8 tall girls during treatment with high doses of synthetic oestrogens for a period of 1 to 28 months. The girls received 0.5 mg ethinyloestradiol daily from day 1 to day 25 and 15 mg norethisteron daily from day 21 to day 25. All were without clinical signs of thromboembolism. Factors of the...

journal_title：European journal of pediatrics

authors： Muntean W,Borkenstein M

更新日期：1980-09-01 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：: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：: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：:Vitamin D is important for calcium homeostasis, muscle, and bone health. It has also immunomodulatory capacities in vivo and in vitro. Regulatory T cells (Treg) have been found to suppress a number of T cell-mediated immune disorders, including allergic responses and autoimmune diseases. This study aimed to investigat...

journal_title：European journal of pediatrics

authors： Güven A,Ecevit A,Sözer O,Tarcan A,Tarcan A,Ozbek N

更新日期：2012-08-01 00:00:00

abstract：:A 4.5-year-old male patient is described with chorioretinopathy, minor facial anomalies, delayed closure of the fontanel, mental retardation, moderate hypotonia, epilepsy and hepatic fibrosis. Postural control, intentional vocalising and manual dexterity were superior to the performance of patients with classical Zell...

journal_title：European journal of pediatrics

authors： Barth PG,Schutgens RB,Bakkeren JA,Dingemans KP,Heymans HS,Douwes AC,van der Klei-van Moorsel JM

更新日期：1985-11-01 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：:A girl developed acute agranulocytosis (45/mm3), 37 days after the onset of infectious mononucleosis. The bone marrow showed myeloid hyperplasia with maturation arrest and erythroid hypoplasia. A normal amount of colony forming units of granulocytes and macrophages (CFU-GM) colonies with a relative high number of clus...

journal_title：European journal of pediatrics

authors： Sumimoto S,Kasajima Y,Hamamoto T,Miyanomae T,Iwai Y,Mayumi M,Mikawa H

更新日期：1990-07-01 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:Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two ma...

journal_title：European journal of pediatrics

authors： Kerbl R,Litscher H,Grubbauer HM,Reiterer F,Zobel G,Trop M,Urlesberger B,Eber E,Kurz R

更新日期：1996-11-01 00:00:00

abstract：UNLABELLED:The primary objective of this review was to assess the diagnostic accuracy of voiding urosonography (VUS) in detecting reflux (VUR). As a secondary objective, the reported technical suggestions and diagnostic mistakes were shown to improve the examination protocol and provide the most accurate results. Using...

journal_title：European journal of pediatrics

authors： Valentini AL,De Gaetano AM,Destito C,Marino V,Minordi LM,Marano P

更新日期：2002-07-01 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