Nemaline myopathy in the neonate: two case reports.

abstract：UNLABELLED:In patients with propionic acidaemia (PA), the increased intracellular concentration of propionyl-CoA leads to a relative abundance of odd-numbered long-chain fatty acids (OLCFAs) in body lipids. We investigated the relative amount of OLCFA in erythrocyte membrane lipids over a period of 1-8 years in five pa...

journal_title：European journal of pediatrics

authors： Sperl W,Murr C,Skladal D,Sass JO,Suormala T,Baumgartner R,Wendel U

更新日期：2000-01-01 00:00:00

abstract：:The tendency of non-operative management of appendicitis let us explore the natural history of appendiceal carcinoids, compare them with appendicitis patients, and determine the possibility of deciding the extent of the surgery and post-operative follow-up on behalf of the intraoperative findings. A retrospective revi...

journal_title：European journal of pediatrics

authors： Akova F,Aydin E,Nur Eray Y,Toksoy N,Yalcin S,Altinay S,Tetikkurt US

更新日期：2018-12-01 00:00:00

abstract：:A girl, 13 months of age, presented with generalised granulomatous skin, hair and mucosal candidiasis. Her lymphocytes failed to respond in vitro to Candida antigen (CA); the intradermal test with CA was also negative. Serum immunoglobulins, complement components, granulocyte functions (phagocytic and fungicidal), T-c...

journal_title：European journal of pediatrics

authors： Corbeel L,Ceuppens JL,Van den Berghe G,Claeys H,Casteels-Van Daele M

更新日期：1984-11-01 00:00:00

abstract：UNLABELLED:Periventricular leucomalacia is a condition that causes lifelong disability and considerable economic burden. It occurs in premature infants of less than 32 weeks gestation due to their unique anatomical features. The white matter of these infants is poorly vascularised and contains oligodendrocyte progenito...

journal_title：European journal of pediatrics

authors： Blumenthal I

更新日期：2004-08-01 00:00:00

abstract：:A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency of a...

journal_title：European journal of pediatrics

authors： Søvik O,Lie SO,Fluge G,Van Hoof F

更新日期：1980-12-01 00:00:00

abstract：:Resting metabolic rate (RMR) and the thermic effect of a meal (TEM) were measured in a group of 26 prepubertal children divided into three groups: (1) children with both parents obese (n = 8, group OB2); (2) children with no obese parents and without familial history of obesity (n = 8, OB0); and (3) normal body weight...

journal_title：European journal of pediatrics

authors： Maffeis C,Schutz Y,Zoccante L,Pinelli L

更新日期：1993-02-01 00:00:00

abstract：:Small for gestational age (SGA) infants are known to develop relatively mild transient hyperbilirubinaemia, especially in comparison with premature infants. This may be interpreted as an index of accelerated maturation of particular vital functions. In the present study 12 SGA infants, 12 appropriate for gestational a...

journal_title：European journal of pediatrics

authors： von Stockhausen HB,Struve M

更新日期：1979-11-01 00:00:00

abstract：:Palivizumab utilization, compliance, and outcomes were examined in infants with preexisting medical diseases within the Canadian Registry Database (CARESS) to aid in developing guidelines for potential "at-risk" infants in the future. Infants who received ≥1 dose of palivizumab during the 2006-2010 respiratory syncyti...

journal_title：European journal of pediatrics

authors： Paes B,Mitchell I,Li A,Lanctôt KL

更新日期：2012-05-01 00:00:00

abstract：:We review the validity of balloon occlusion aortography (BOA) on the basis of our personal experience with 18 patients with congenital heart disease (mean weight 4.55 g, including 8 neonates). Four of the 18 patients underwent aortic arch angiography using balloon occlusion of the descending aorta. Pulmonary angiograp...

journal_title：European journal of pediatrics

authors： Ino T,Shimazaki S,Nishimoto K,Akimoto K,Iwahara M,Yabuta K,Watanabe M,Tanaka A,Hosoda Y

更新日期：1991-02-01 00:00:00

abstract：:We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 109/L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urge...

journal_title：European journal of pediatrics

authors： Chan WK,Chang KO,Lau WH

更新日期：2017-08-01 00:00:00

abstract：:This was an uncontrolled, open-label follow up study of a previous 12-month, randomized, double-blind, placebo-controlled trial performed to assess the long-term efficacy and safety of Recombinant Human Interferon Gamma (rIFN-gamma) in patients with chronic granulomatous disease (CGD). In two centres, 28 patients (24 ...

journal_title：European journal of pediatrics

authors： Weening RS,Leitz GJ,Seger RA

更新日期：1995-04-01 00:00:00

abstract：:The objective of this study was to investigate the clinical applicability of pulse oximetry to measure haemoglobin oxygen saturation and heart rate in the first 20 min of life and to analyse the effect of pre- or post-ductal (hand, respectively, foot) fixation of sensors on oxygen saturation. Measurements were carried...

journal_title：European journal of pediatrics

authors： Meier-Stauss P,Bucher HU,Hürlimann R,König V,Huch R

更新日期：1990-09-01 00:00:00

abstract：:Since immunological disorders have been demonstrated in patients with Diamond-Blackfan anaemia (DBA), intravenous immunoglobulins (IVIG) were administered to a 14-year-old girl with DBA and congenital malformations, previously treated with corticosteroids and blood transfusions. No therapeutic effect was observed. ...

journal_title：European journal of pediatrics

authors： Miceli Sopo S,Pesaresi MA,Pastore M,Stabile A

更新日期：1990-08-01 00:00:00

abstract：:Sandifer syndrome is a rare complication of gastro-oesophageal reflux disease (GERD) when a patient presents with extraoesophageal symptoms, typically neurological. The aim of this study was to review the existing literature and describe a typical presentation and most appropriate investigations and management for the...

journal_title：European journal of pediatrics

authors： Mindlina I

更新日期：2020-02-01 00:00:00

abstract：:Serum bile acids and their conjugates were analysed in 20 breast-fed infants with prolonged jaundice. The mean total bile acid levels in serum were increased in the breast-fed infants with jaundice, as compared with those in either breast- or bottle-fed infants without jaundice. However, there were no significant diff...

journal_title：European journal of pediatrics

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

更新日期：1985-05-01 00:00:00

abstract：:The clinical and biochemical response to 25-hydroxycholecalciferol (25-HCC) and vitamin D3, 150 microgram/day for 20 days has been compared in infants aged 3--18 months with nutritional rickets. The infants were allocated at random to Group I (11 infants) treated with 25HCC and Group II (9 infants) treated with vitami...

journal_title：European journal of pediatrics

authors： Moya M,Beltran J,Colomer J

更新日期：1977-12-30 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：: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：:Lower respiratory tract infections (LRTI) caused by adenovirus can be severe with resultant chronic pulmonary sequelae. More than 50 serotypes have been recognized; however, the exact association of serotype with clinical phenotype is still unclear. There have been no reports on the adenovirus serotype pattern in Hong...

journal_title：European journal of pediatrics

authors： Chau SK,Lee SL,Peiris MJ,Chan KH,Chan E,Wong W,Chiu SS

更新日期：2014-03-01 00:00:00

abstract：:A benign cystic nephroblastoma in a 6-month-old boy is presented. Erroneous interpretation as malignant nephroblastoma led to unnecessarily aggressive therapy. There is no evidence of recurrence or metastatic disease 12 years after the initial resection. As shown in our case and in the others previously reported in th...

journal_title：European journal of pediatrics

authors： Havers W,Stambolis C

更新日期：1979-05-18 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：:Mid-aortic syndrome is characterized by narrowing of the abdominal aorta, usually with the involvement of renal arteries and other visceral branches. The combination of the presence of an abdominal bruit, diminished or absent pulsations of the lower extremities, and a blood pressure discrepancy between upper and lower...

journal_title：European journal of pediatrics

authors： ten Dam K,van der Palen RL,Tanke RB,Schreuder MF,de Jong H

更新日期：2013-03-01 00:00:00

abstract：:Primary hyperparathyroidism is a rare endocrine disease in children and young adults. The early detection and treatment of primary hyperparathyroidism led to a marked decrease in classical bone and renal manifestations of the disease. Osteitis fibrosa cystica and brown tumors have become extremely rare clinical entiti...

journal_title：European journal of pediatrics

authors： Atabek ME,Pirgon O,Sert A,Esen HH

更新日期：2008-01-01 00:00:00

abstract：UNLABELLED:Establishing enteral feeding in the very low birth weight infant as soon as possible after birth has been shown to promote growth and reduce the need for intravenous lines. Human milk can be administered either as a continuous infusion or as intermittent boluses. The aim of this study was to investigate the ...

journal_title：European journal of pediatrics

authors： Rojahn A,Lindgren CG

更新日期：2001-10-01 00:00:00

abstract：:Severe neonatal centronuclear myopathy is inherited as an X-linked condition characterized by primary asphyxia, extreme muscular hypotonia and absent spontaneous movements. We report seven cases from three families to point out the importance of diagnosis with regard to prognosis, outcome and genetic counselling. In h...

journal_title：European journal of pediatrics

authors： Braga SE,Gerber A,Meier C,Weiersmüller A,Zimmermann A,Herrmann U,Liechti S,Moser H

更新日期：1990-12-01 00:00:00

abstract：:Neurological manifestations and outcomes of children with the 2009 H1N1 virus infection have been reported in three American series and from smaller cohorts and case reports worldwide. Of the 83 children admitted between April 2009 and March 2010 with H1N1 virus infection to a tertiary children's hospital in a Europea...

journal_title：European journal of pediatrics

authors： Surana P,Tang S,McDougall M,Tong CY,Menson E,Lim M

更新日期：2011-08-01 00:00:00

abstract：BACKGROUND:Human immunodeficiency virus type 1 (HIV-1) infected children treated with highly active antiretroviral therapy (HAART) may develop a significant reduction of plasma viremia associated with an increase in CD4+ T-cell counts. Functional capacity of this reconstituted immune system in response to recall antige...

journal_title：European journal of pediatrics

authors： Ching N,Deville JG,Nielsen KA,Ank B,Wei LS,Sim MS,Wolinsky SM,Bryson YJ

更新日期：2007-01-01 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：UNLABELLED:We investigated the histological and molecular characteristics of pulmonary alveolar proteinosis (PAP) in two siblings (a brother and sister) who did not exhibit respiratory distress at birth but who each developed symptoms during infancy. Histological analysis of lung specimens showed positive staining for ...

journal_title：European journal of pediatrics

authors： Sakai Y,Abo W,Yoshimura H,Sano H,Kuroki Y,Satoh M,Kaimori M

更新日期：1999-05-01 00:00:00

abstract：UNLABELLED:Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. Fifteen Hungarian patients were diagnosed with SLOS on the basis of clinical symptoms, serum cholesterol, 7-dehydrocholesterol, and molecular gen...

journal_title：European journal of pediatrics

authors： Oláh AV,Szabó GP,Varga J,Balogh L,Csábi G,Csákváry V,Erwa W,Balogh I

更新日期：2013-05-01 00:00:00