Tracheal bronchus associated with VACTERL.

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：:This is apparently the first report on connatal hemihypertrophy with malignant pheochromocytoma. The coincidence of hemihypertrophy with other diseases, particularly neuroectodermal dysplasias on the one hand and the frequent association of neuroectodermal dysplasias with pheochromocytoma on the other, are emphasized....

journal_title：European journal of pediatrics

authors： Schnakenburg KV,Müller M,Dörner K,Harms D,Schwarze EW

更新日期：1976-07-12 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：:We evaluated chronic kidney disease (CKD) (proteinuria or estimated glomerular filtration rate < 60 mL/min/1.73 m2) or hypertension prevalence in 110 children with juvenile idiopathic arthritis (JIA). CKD and hypertension were clustered under the umbrella term of "renal injury". Median age at the last visit was 14 yea...

journal_title：European journal of pediatrics

authors： Gicchino MF,Di Sessa A,Guarino S,Miraglia Del Giudice E,Olivieri AN,Marzuillo P

更新日期：2021-02-01 00:00:00

abstract：:Several methods have been used for lung function testing in the ventilated newborn. The interest in the field has been stimulated by the recent appearance of commercially available equipment for assessment of mechanical parameters and of functional residual capacity in this group. Nevertheless, lung function testing i...

journal_title：European journal of pediatrics

authors： Hjalmarson O

更新日期：1994-01-01 00:00:00

abstract：:We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate...

journal_title：European journal of pediatrics

authors： Kunze J,Oldigs HD,Tolksdorf M

更新日期：1976-09-01 00:00:00

abstract：:Extrauterine growth restriction (EUGR) is a frequent morbidity of preterm infants that can affect short- and long-term prognosis as it involves different EUGR-related alterations in growth and neurological development, as well as cardiometabolic risk. However, knowledge about the prognosis of EUGR is scarce. Thus, the...

journal_title：European journal of pediatrics

authors： Martínez-Jiménez MD,Gómez-García FJ,Gil-Campos M,Pérez-Navero JL

更新日期：2020-08-01 00:00:00

abstract：UNLABELLED:Nemaline myopathy, one of the most benign myopathies in older children and adults, may be rarely associated with early death in the neonate. The authors report two cases, describing the ante- and postnatal clinical courses. Family history may help in establishing the diagnosis, but this was not the case in t...

journal_title：European journal of pediatrics

authors： Vendittelli F,Manciet-Labarchède C,Gilbert-Dussardier B

更新日期：1996-06-01 00:00:00

abstract：:A large number of ventilation strategies are now available for the neonate. This review has focused on new information, that is, studies published since 2000 and the implication of their results for current clinical practice. Meta-analysis of randomised trials has demonstrated that assist control and synchronous inter...

journal_title：European journal of pediatrics

authors： Greenough A,Sharma A

更新日期：2007-10-01 00:00:00

abstract：:Low body mass index (BMI) z score is commonly used to define undernutrition, but faltering growth allows for a complementary dynamic assessment of nutritional status. We studied the prevalence of undernutrition and faltering growth at admission in the pediatric intensive care (PICU) setting and their impacts on outcom...

journal_title：European journal of pediatrics

authors： Valla FV,Berthiller J,Gaillard-Le-Roux B,Ford-Chessel C,Ginhoux T,Rooze S,Cour-Andlauer F,Meyer R,Javouhey E

更新日期：2018-03-01 00:00:00

abstract：:The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann ty...

journal_title：European journal of pediatrics

authors： Tolksdorf M,Kunze J,Gross-Selbeck G,Sperling K,Wegner RD,Wieczorek V,Vogel M

更新日期：1977-08-23 00:00:00

abstract：:Growth hormone (GH) responses to GRF (1 microgram/kg BW i.v.) were investigated. Comparison between GRF(1-40) and GRF(1-29)NH2 in 11 young adult volunteers gave identical results. One hundred and thirty-one children and adolescents (45 with idiopathic GHD) were tested with GRF (1-29)NH2. The maximal GH levels (max GH)...

journal_title：European journal of pediatrics

authors： Ranke MB,Gruhler M,Rosskamp R,Brügmann G,Attanasio A,Blum WF,Bierich JR

更新日期：1986-12-01 00:00:00

abstract：UNLABELLED:Methanol poisoning is not frequently observed in children; however, without treatment, serious intoxication can be complicated by visual impairment, coma, metabolic acidosis, respiratory and circulatory insufficiency and death. Treatment in a paediatric intensive care is therefore compulsory. Methanol is met...

journal_title：European journal of pediatrics

authors： De Brabander N,Wojciechowski M,De Decker K,De Weerdt A,Jorens PG

更新日期：2005-03-01 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：:Iron deficiency anaemia continues to be the world's most important cause of years lived with disability in children and adolescents. Assessment of iron deficiency traditionally depended on laboratory parameters that may be modified by inflammation states, including obesity, which is nowadays a current condition in ado...

journal_title：European journal of pediatrics

authors： Ibáñez-Alcalde MM,Vázquez-López MÁ,López-Ruzafa E,Lendínez-Molinos FJ,Bonillo-Perales A,Parrón-Carreño T

更新日期：2020-10-01 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：: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：UNLABELLED:A 9-year-old boy lost almost all his small bowel after an acute volvulus due to a congenital, but previously unsuspected malrotation. Survival using total parenteral nutrition is possible in these cases, but the medical burden is heavy. Small intestinal transplantation was performed for the first time in the...

journal_title：European journal of pediatrics

authors： Severijnen R,Hulstijn-Dirkmaat I,Gordijn B,Bakker L,Bongaerts G

更新日期：2003-11-01 00:00:00

abstract：UNLABELLED:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder in which haemolytic anaemia is the major symptom. The Beutler spot test employed in mass-screening for galactosaemia in newborns requires several intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretic...

journal_title：European journal of pediatrics

authors： Okano Y,Fujimoto A,Miyagi T,Hirono A,Miwa S,Niihira S,Hirokawa H,Yamano Y

更新日期：2001-02-01 00:00:00

abstract：:A Japanese patient presented with lymphedema, severe Varicella zoster, and Salmonella infection, recurrent respiratory infections, panniculitis, monocytopenia, B- and NK-cell lymphopenia, and myelodysplasia. The phenotype was a mixture of the monocytopenia and mycobacterial infection (MonoMAC) and Emberger syndromes. ...

journal_title：European journal of pediatrics

authors： Ishida H,Imai K,Honma K,Tamura S,Imamura T,Ito M,Nonoyama S

更新日期：2012-08-01 00:00:00

abstract：:The purpose of this study was to determine the percentiles of interpopliteal distance to diagnose bowleg in 0-6 year-old children. Measurement of interpopliteal distance is a simple but valuable indicator in clinical examination to diagnose bowleg. We analyzed data from the anthropometry of Turkish children aged 0-6 y...

journal_title：European journal of pediatrics

authors： Kurtoglu S,Mazicioglu MM,Ozturk A,Hatipoglu N,Balci E,Ustunbas HB

更新日期：2011-09-01 00:00:00

abstract：:We aimed to assess the prevalence and outcomes of esophageal perforation in very low birth weight infants. This retrospective cohort study utilized the US National Inpatient Sample dataset for the years 2000 to 2017. A total of 1,755,418 very low birth weight infants were included; of them, 861 (0.05%) were diagnosed ...

journal_title：European journal of pediatrics

authors： Elgendy MM,Othman H,Aly H

更新日期：2021-02-01 00:00:00

abstract：:There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy...

journal_title：European journal of pediatrics

authors： Danks DM

更新日期：1991-01-01 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：:An immunocompetent 9-year-old boy with disseminated cat scratch disease involving spleen, cervical and abdominal lymph nodes, skull, and one clavicle is reported. Antibodies to Rochalimaea quintana and R. henselae were detected, at increasing, then decreasing concentration. DNA extracted from the biopsied skull lesion...

journal_title：European journal of pediatrics

authors： Waldvogel K,Regnery RL,Anderson BE,Caduff R,Caduff J,Nadal D

更新日期：1994-01-01 00:00:00

abstract：:Cardiac imaging has had significant influence on the science and practice of pediatric cardiology. Especially the development and improvements made in non-invasive imaging techniques, like echocardiography and cardiac magnetic resonance imaging (MRI), have been extremely important. Technical advancements in the field ...

journal_title：European journal of pediatrics

authors： Mertens L,Ganame J,Eyskens B

更新日期：2008-01-01 00:00:00

abstract：UNLABELLED:Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia, in contrast with the transitory abnormalities seen in secondary ciliary dyskinesia. Disease-causing mutations in at least 16 genes have already be...

journal_title：European journal of pediatrics

authors： Boon M,Jorissen M,Proesmans M,De Boeck K

更新日期：2013-02-01 00:00:00

abstract：:We describe a patient with leucocyte adhesion deficiency (LAD). Clinically, the patient had delayed umbilical cord detachment, omphalitis, impaired wound healing and persistent leucocytosis. The patient had the severe form of LAD, with a total absence of leucocyte cell adhesion molecules (LeuCAMs) and undetectable mRN...

journal_title：European journal of pediatrics

authors： Weening RS,Bredius RG,Vomberg PP,van der Schoot CE,Hoogerwerf M,Roos D

更新日期：1992-02-01 00:00:00

abstract：:Two matched groups of term newborn infants with idiopathic jaundice were subjected to intensive double direction green or blue light phototherapy (PT). The efficacy of treatment was expressed as rate of decline of serum bilirubin concentration after 6, 12 and 24 h of light exposure. More rapid response was obtained us...

journal_title：European journal of pediatrics

authors： Amato M,Inaebnit D

更新日期：1991-02-01 00:00:00

abstract：:Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness. Loss of function mutations in the gene encoding low-density lipoprotein receptor-related protein 5 (LRP5) have been established as the genetic defect of the disease. We repo...

journal_title：European journal of pediatrics

authors： Papadopoulos I,Bountouvi E,Attilakos A,Gole E,Dinopoulos A,Peppa M,Nikolaidou P,Papadopoulou A

更新日期：2019-03-01 00:00:00