Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease.

abstract：:Prothrombin of newborns was investigated by means of the quantitative immunoelectrophoresis and the two-dimensional immunoelectrophoresis. The plasma of 10 of 24 healthy term newborns and of 5 preterm infants taken immediately after birth showed one prothrombin precipitate in the alpha-2-beta-globulin position when a ...

journal_title：Pediatric research

authors： Muntean W,Petek W,Rosanelli K,Mutz ID

更新日期：1979-11-01 00:00:00

abstract：:A dietary-related deficiency of docosahexaenoic acid [C22:6(n-3)] in infant cerebral cortex has been identified. Absence or very low rates of hepatic synthesis from the essential fatty acid precursor, alpha-linolenic acid [C18:3(n-3)], in early life may have been a contributory factor. We have analyzed liver total lip...

journal_title：Pediatric research

authors： Farquharson J,Jamieson EC,Logan RW,Patrick WJ,Howatson AG,Cockburn F

更新日期：1995-09-01 00:00:00

abstract：:High-frequency oscillatory ventilation (HFOV) may improve pulmonary outcome in very preterm infants, but the effects on the brain are largely unknown. We hypothesized that early prolonged HFOV compared with low volume positive pressure ventilation (LV-PPV) would not increase the risk of delayed brain growth or injury ...

journal_title：Pediatric research

authors： Loeliger M,Inder TE,Shields A,Dalitz P,Cain S,Yoder B,Rees SM

更新日期：2009-11-01 00:00:00

abstract：:Animal models with complex cortical development are useful for improving our understanding of the wide spectrum of neurodevelopmental challenges facing human preterm infants. MRI techniques can define both cerebral injury and alterations in cerebral development with translation between animal models and the human infa...

journal_title：Pediatric research

authors： Barnette AR,Neil JJ,Kroenke CD,Griffith JL,Epstein AA,Bayly PV,Knutsen AK,Inder TE

更新日期：2009-07-01 00:00:00

abstract：:An assessment of pulsatile secretion of luteinizing hormone (LH), measured by both immunoassay (I-LH) and rat interstitial cell testosterone production bioassay (B-LH), as well as of follicle-stimulating hormone and glycoprotein hormone alpha-subunit was carried out in seven normal prepubertal and six normal premenarc...

journal_title：Pediatric research

authors： Reiter EO,Biggs DE,Veldhuis JD,Beitins IZ

更新日期：1987-04-01 00:00:00

abstract：:The immunological competence of neonatal rabbits inoculated intradermally with Treponema pallidum was examined. Both cellular responses and the production of humoral antibody to specific T. pallidum antigens and to nonspecific antigens or mitogens were investigated. In blast transformation assays, splenic and poplitea...

journal_title：Pediatric research

authors： Gamboa D,Miller JN,Lukehart SA,Baker-Zander SA,Sell S

更新日期：1984-10-01 00:00:00

abstract：:BackgroundSpecific HLA-DQ genes have been recognized as necessary - but not sufficient - factors for the occurrence of Celiac Disease (CD). Through a meta-analysis, evaluating the distribution of CD-related HLA genotypes in children, we aimed at providing insights for a potential widened screening strategy.MethodsAfte...

journal_title：Pediatric research

authors： De Silvestri A,Capittini C,Poddighe D,Valsecchi C,Marseglia G,Tagliacarne SC,Scotti V,Rebuffi C,Pasi A,Martinetti M,Tinelli C

更新日期：2018-03-01 00:00:00

abstract：BACKGROUND:Histomorphometry of endomyocardial biopsies is one component of arrhythmogenic right ventricular cardiomyopathy (ARVC) diagnosis, although there is a need for stricter diagnostic criteria for this disease in pediatrics. The clinical utility of biopsy analysis as a component of ARVC diagnosis was evaluated in...

journal_title：Pediatric research

authors： Sreetharan S,MacIntyre CJ,Fatah M,Warren AE,Wilson GJ,Hamilton RM

更新日期：2018-10-01 00:00:00

abstract：:Previously, we have reported marked pulmonary inflammation in infants who develop chronic lung disease of prematurity. We revisited these infants who did not have clinical or laboratory evidence of infection and searched for Ureaplasma urealyticum, group B streptococci, and other microbes by reverse transcription-PCR ...

journal_title：Pediatric research

authors： Kotecha S,Hodge R,Schaber JA,Miralles R,Silverman M,Grant WD

更新日期：2004-01-01 00:00:00

abstract：BACKGROUND:Real-time detection and classification of apneic episodes remain significant challenges. This study explores the applicability of a novel method of monitoring the respiratory effort and dynamics for rapid detection and classification of apneic episodes. METHODS:Obstructive apnea (OA) and hypopnea/central ap...

journal_title：Pediatric research

authors： Waisman D,Lev-Tov L,Levy C,Faingersh A,Colman Klotzman I,Bibi H,Rotschild A,Landesberg A

更新日期：2015-07-01 00:00:00

abstract：:In view of their known high incidence of noninsulin dependent diabetes (NIDDM), we sought to determine whether Native American (Plains Indian) children and adolescents show evidence of risk factors for both NIDDM and cardiovascular disease. Children and adolescents between the ages of 4 and 19 y were recruited, and fi...

journal_title：Pediatric research

authors： Blackett PR,Taylor T,Russell D,Lu M,Fesmire J,Lee ET

更新日期：1996-07-01 00:00:00

abstract：:Studies were designed to develop an animal model for the syndrome of hypochloremic, hypokalemic metabolic alkalosis (HMA), and failure to thrive in infants due to intake of chloride-deficient formula. Littermate canine puppies, 2 wk old, were fed soy formula containing normal chloride, 20 mEq/liter (NC, n = 5), or low...

journal_title：Pediatric research

authors： Felder CC,Robillard JE,Roy S 3rd,Jose PA

更新日期：1987-05-01 00:00:00

abstract：:Phototherapy results in the conversion of native bilirubin to more water-soluble configurational and structural isomers. The serum half-life for the configurational isomer, the principal photoproduct in vivo, was determined by high pressure liquid chromatography in six premature infants following cessation of photothe...

journal_title：Pediatric research

authors： Ennever JF,Knox I,Denne SC,Speck WT

更新日期：1985-02-01 00:00:00

abstract：:Isolated TSH deficiency leading to hypothyroidism seems to be a rare condition, escaping the diagnosis by neonatal screening programs, which are based on the primary determination of TSH. This is the first report of a case with an autosomal recessive TSH defect caused by a homozygous mutation of the betaTSH gene that ...

journal_title：Pediatric research

authors： Biebermann H,Liesenkötter KP,Emeis M,Oblanden M,Grüters A

更新日期：1999-08-01 00:00:00

abstract：:Human Bifidobacterium sp strain bifidum (B. bifidum) was administered to BALB/c lactating mice (n = 58) and their litters (n = 327 pups) to evaluate the ingested strain's adherent properties and ability to inhibit murine rotavirus (MRV) infection. ELISA and anaerobic bacteriologic techniques were used to measure MRV s...

journal_title：Pediatric research

authors： Duffy LC,Zielezny MA,Riepenhoff-Talty M,Dryja D,Sayahtaheri-Altaie S,Griffiths E,Ruffin D,Barrett H,Rossman J,Ogra PL

更新日期：1994-06-01 00:00:00

abstract：:To elucidate the impact of nutrition in cystic fibrosis (CF), we compared the phenotypic traits of Cftr -/- mice fed either a lipid-enriched liquid diet (Peptamen) or a standard chow combined with polyethylenglycol osmotic laxative (PEG), two strategies commonly used to prevent intestinal obstruction in CF mice. Survi...

journal_title：Pediatric research

authors： Cottart CH,Bonvin E,Rey C,Wendum D,Bernaudin JF,Dumont S,Lasnier E,Debray D,Clément A,Housset C,Bonora M

更新日期：2007-11-01 00:00:00

abstract：:The mechanisms of how glutamine benefits critically ill patients have not been established. The purpose of this study was to determine the effects of dietary and endogenously produced glutamine on small intestinal morphology using light and transmission electron microscopy in artificially reared rat pups. It was hypot...

journal_title：Pediatric research

authors： Potsic B,Holliday N,Lewis P,Samuelson D,DeMarco V,Neu J

更新日期：2002-09-01 00:00:00

abstract：:The secreted protein sonic hedgehog (Shh) is essential for normal development of many organs. Targeted disruption of Shh in mouse leads to near complete absence of craniofacial skeletal elements at birth, and mutation of SHH in human causes holoprosencephaly (HPE), frequently associated with defects of derivatives of ...

journal_title：Pediatric research

authors： Yamagishi C,Yamagishi H,Maeda J,Tsuchihashi T,Ivey K,Hu T,Srivastava D

更新日期：2006-03-01 00:00:00

abstract：:Recent studies have shown 1,25(OH)2D3 receptor-mediated modulation of leukocyte proliferation, differentiation, and function. We examined the phagocytosis and killing of microorganisms by neutrophils and monocytes from five patients of three families with hereditary resistance to 1,25(OH)2D3. Phagocytosis of microorga...

journal_title：Pediatric research

authors： Etzioni A,Hochberg Z,Pollak S,Meshulam T,Zakut V,Tzehoval E,Keisari Y,Aviram I,Spirer Z,Benderly A

更新日期：1989-03-01 00:00:00

abstract：:Studies using stable isotopically labeled glucose and palmitate as precursors of pulmonary surfactant synthesis have demonstrated slow surfactant turnover in premature infants with respiratory distress syndrome (RDS). However, only limited data about surfactant turnover are available for term infants. Because acetate ...

journal_title：Pediatric research

authors： Bohlin K,Merchak A,Spence K,Patterson BW,Hamvas A

更新日期：2003-08-01 00:00:00

abstract：:Sequential magnitude and the rate of change in tracheal mechanics after application of intermittent positive pressure (IPP), and the time constant, tau, of this deformation were determined in fetal (21 and 27 days gestation), neonatal (term, 31 days gestation) and adult rabbits. In vitro tracheal mechanics were determ...

journal_title：Pediatric research

authors： Bhutani VK,Shaffer TH

更新日期：1982-10-01 00:00:00

abstract：:Deficiency of the lipoprotein complex, surfactant, can lead to respiratory distress syndrome (RDS) in the prematurely born infant. The surfactant proteins (SP) play important roles in the function of surfactant. Previously, we have characterized four allelic variants of the SP-A1 gene (6A, 6A2, 6A3, and 6A4) and five ...

journal_title：Pediatric research

authors： Kala P,Ten Have T,Nielsen H,Dunn M,Floros J

更新日期：1998-02-01 00:00:00

abstract：:Although the pathogenesis of necrotizing enterocolitis remains uncertain, ischemia appears to be an important contributing factor to the development of this disorder. Reperfusion plays a major role in ischemia-related injury, and oxygen free radicals produced during reperfusion most likely contribute to the injury. Th...

journal_title：Pediatric research

authors： Papparella A,DeLuca FG,Oyer CE,Pinar H,Stonestreet BS

更新日期：1997-08-01 00:00:00

abstract：:Little information is available regarding the time, rhythm, number, and appropriate dosage of human chorionic gonadotropin (HCG) for adequate testing of testicular function in human. The time course of the effect of two, three, or seven HCG injections at intervals of one, five, and two days, respectively, on the plasm...

journal_title：Pediatric research

authors： Forest MG,David M,Lecoq A,Jeune M,Bertrans J

更新日期：1980-06-01 00:00:00

abstract：:Twelve-h overnight urine and serum samples obtained simultaneously at 20-min intervals were assayed for growth hormone (GH). Ninety-one children, 5 to 16 y (Tanner stage 1 to 3) participated; group 1 were healthy children, group 2 were children with organic GH deficiency, and group 3 had idiopathic growth failure and ...

journal_title：Pediatric research

authors： Albini CH,Sotos J,Sherman B,Johanson A,Celniker A,Hopwood N,Quattrin T,Mills BJ,MacGillivray MH

更新日期：1991-06-01 00:00:00

abstract：:The risk of pulmonary hemorrhage is increased in extremely low birth weight infants treated with surfactant. The pathogenesis of this increased risk is far from clear. We tested whether exposure of cell membranes to surfactant may lead to increased membrane permeability, hypothesizing that this process may contribute ...

journal_title：Pediatric research

authors： Findlay RD,Taeusch HW,David-Cu R,Walther FJ

更新日期：1995-01-01 00:00:00

abstract：:Lung development requires extracellular matrix remodeling. This involves matrix metalloproteinases (MMPs) and their endogenous inhibitors [tissue inhibitors of metalloproteinases (TIMPs)]. Because these have been generally studied only in whole lung, we focused specifically on mesenchymal and epithelial cells freshly ...

journal_title：Pediatric research

authors： Boucherat O,Bourbon JR,Barlier-Mur AM,Chailley-Heu B,D'Ortho MP,Delacourt C

更新日期：2007-07-01 00:00:00

abstract：:To investigate the detailed pattern of change in circulating gonadotropin and testosterone concentrations around the onset of puberty and to determine the temporal relationship between the gonadotropin and testosterone secretion, plasma gonadotropin and testosterone were measured at 20-min intervals for 24 h in 21 nor...

journal_title：Pediatric research

authors： Goji K,Tanikaze S

更新日期：1993-08-01 00:00:00

abstract：:Nitric oxide (NO) serves many vasoprotective roles, but the massive release of NO causes arterial wall degeneration. We investigated whether enhanced nitric oxide synthase (iNOS) expression in peripheral blood leukocytes and circulating endothelial cells mirrors the progression of coronary arterial lesions in 55 child...

journal_title：Pediatric research

authors： Yu X,Hirono KI,Ichida F,Uese K,Rui C,Watanabe S,Watanabe K,Hashimoto I,Kumada T,Okada E,Terai M,Suzuki A,Miyawaki T

更新日期：2004-04-01 00:00:00

abstract：:Placental steroid sulfatase deficiency is a genetic disorder only recently reported in the medical literature. Most documented cases of placental sulfatase deficiency have been marked by delay in onset of labor, lack of cervical dilatation, and relative refractoriness of oxytocic agents and amniotomy. We have studied ...

journal_title：Pediatric research

authors： Shapiro LJ,Cousins L,Fluharty AL,Stevens RL,Kihara H

更新日期：1977-08-01 00:00:00