Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent.


:Mucolipidosis 4 (ML4) is an autosomal recessive disorder with both lipid and mucopolysaccharide storage. The disease is characterized by severe visual impairment and psychomotor retardation. In our effort to find a phenotypic marker for ML4 fibroblasts, living cells were stained with fluorescent compounds. The staining pattern in cells was complicated by autofluorescence. A careful study revealed that auto-fluorescence by itself was a sufficient marker for viable ML4 fibroblasts. ML4 cells in cultures obtained from four unrelated patients contain auto-fluorescent material. Auto-fluorescence was noted over a wide range of excitation wavelengths from approximately 365 to approximately 546 nm. The most intense fluorescence was observed in the lower wave-length range. Cultured fibroblasts from normal individuals or obligate ML4 heterozygotes did not fluoresce under adequately controlled culture conditions. High passage number of inadequate feeding caused a small proportion of fibroblasts obtained from normal individuals to auto-fluoresce. The auto-fluorescent material co-localized with phase-dense inclusion bodies, shown to be lysosomes by staining with LAMP-ab. These findings imply that fluorescence may relate to the specific compound(s) stored in the lysosomes. In a comparative study, neuronal ceroid lipofuscinosis fibroblasts were also fluorescent. Fibroblasts from other diseases such as Gaucher disease and glycogenosis type 2 did not show any fluorescence. These findings are currently used in our functional cloning strategy for determining the gene involved in ML4.


Pediatr Res


Pediatric research


Goldin E,Blanchette-Mackie EJ,Dwyer NK,Pentchev PG,Brady RO




Has Abstract


1995-06-01 00:00:00












  • Shift of serum osteocalcin components between cord blood and blood at day 5 of life.

    abstract::Vitamin K deficiency is a relatively common condition in neonates. However, the role of vitamin K in neonatal bone metabolism remains to be determined. Osteocalcin (OC) is the most abundant noncollagenous protein in bone, and is regulated to be gamma-carboxylated by vitamin K. In this study, we measured gamma-carboxyl...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Shimizu N,Shima M,Hirai H,Nakajima S,Nishimura K,Yamaoka K,Okada S

    更新日期:2002-11-01 00:00:00

  • Developmental difference in the stimulation of cardiac myofibrillar Mg2(+)-ATPase activity by calmidazolium.

    abstract::We probed possible developmentally related changes in thin filament activity in rat hearts with the aid of calmidazolium (CDZ). CDZ is a calmodulin antagonist that also binds to troponin C and stimulates Ca2+ troponin C-dependent activation of cardiac myofibrillar contractile activity. In paired experiments, we compar...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Murphy AM,Solaro RJ

    更新日期:1990-07-01 00:00:00

  • Selective impairment of taurine transport by cyclosporin A in a human placental cell line.

    abstract::We investigated, using a human placental choriocarcinoma cell line as a model, the effects of the immunosuppressive drug cyclosporin A on several placental transport systems mediating the transfer of glucose and amino acids from mother to fetus. The results of the investigation show that the transport system responsib...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Ramamoorthy S,Leibach FH,Mahesh VB,Ganapathy V

    更新日期:1992-07-01 00:00:00

  • Hyperoxia decreases matrix metalloproteinase-9 and increases tissue inhibitor of matrix metalloproteinase-1 protein in the newborn rat lung: association with arrested alveolarization.

    abstract::Matrix metalloproteinases (MMP) are likely effectors of normal lung development, especially branching morphogenesis, angiogenesis, and extracellular matrix degradation. Because hyperoxia exposure (>95% O(2)) from d 4 to 14 in newborn rat pups leads to arrest of alveolarization and mimics newborn chronic lung disease, ...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Hosford GE,Fang X,Olson DM

    更新日期:2004-07-01 00:00:00

  • Insulin-like growth factor-I (IGF-I) ameliorates and IGF binding protein-1 (IGFBP-1) exacerbates the effects of undernutrition on brain growth during early postnatal life: studies in IGF-I and IGFBP-1 transgenic mice.

    abstract::Insulin-like growth factor-I (IGF-I) plays an important role in the stimulation of postnatal brain growth. In transgenic (Tg) mice, IGF-I overexpression stimulates postnatal brain growth, whereas decreased IGF-I availability caused by ectopic brain expression of IGF binding protein-1 [(IGFBP-1), an inhibitor of IGF-I ...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Lee KH,Calikoglu AS,Ye P,D'Ercole AJ

    更新日期:1999-03-01 00:00:00

  • Total parenteral nutrition in the newborn: energy substrates and plasma total fatty acids.

    abstract::Carbohydrate and lipid intakes have both been found to modulate the metabolism of long-chain fatty acids. To define the respective influence of these two energy substrates on plasma fatty acid concentrations, 32 studies were performed in 16 parenterally fed newborn infants (mean +/- SEM, birth wt: 2.15 +/- 0.1 kg, age...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Pineault M,Lepage G,Bisaillon S,Roy CC,Chessex P

    更新日期:1989-10-01 00:00:00

  • Cerebral responses to acute maternal alcohol intoxication in immature fetal sheep.

    abstract::Previous studies in mature fetal sheep have shown that alcohol depresses cerebral blood flow (CBF), cerebral O2 consumption (CMRO2), and cerebral glucose consumption (CMRglu). This effect earlier in gestation might contribute to the pathogenesis of fetal alcohol syndrome. Physiologic studies of immature fetal sheep ha...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Gleason CA,Hotchkiss KJ

    更新日期:1992-06-01 00:00:00

  • Predictive analytics in the pediatric intensive care unit for early identification of sepsis: capturing the context of age.

    abstract:BACKGROUND:Early recognition of patients at risk for sepsis is paramount to improve clinical outcomes. We hypothesized that subtle signatures of illness are present in physiological and biochemical time series of pediatric-intensive care unit (PICU) patients in the early stages of sepsis. METHODS:We developed multivar...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Spaeder MC,Moorman JR,Tran CA,Keim-Malpass J,Zschaebitz JV,Lake DE,Clark MT

    更新日期:2019-11-01 00:00:00

  • Prostaglandin E1 opens the ductus venosus in the newborn lamb.

    abstract::There is in vitro evidence that the ductus venosus of the fetal and newborn lamb relaxes to administration of E-series prostaglandins. We performed this study to determine whether the ductus venosus of the newborn lamb could be reopened by an infusion of prostaglandin E1. Fifteen lambs between 4 and 28 h of life and s...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Morin FC 3rd

    更新日期:1987-03-01 00:00:00

  • Food choices among white adolescents: the Lipid Research Clinics Prevalence Study.

    abstract::Food groups have been widely used in nutrition education but relatively few studies have employed food groups to interpret dietary intake. The 24-h dietary recalls of 534 male and 476 female adolescents, aged 10-19 yr, were analyzed using a food grouping scheme. Foods were grouped with emphasis placed on fats and carb...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Kuczmarski RJ,Brewer ER,Cronin FJ,Dennis B,Graves K,Haynes S

    更新日期:1986-04-01 00:00:00

  • Effect of early nutritional deprivation and diet on translocation of bacteria from the gastrointestinal tract in the newborn rat.

    abstract::The gastrointestinal (GI) barrier function is immature in the preterm neonate and might thus facilitate translocation of enteric bacteria and gut-derived septicemia. Circumstantial evidence suggests that bacterial uptake from the intestine may be further enhanced by an alteration of the host nutritional status. To tes...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Steinwender G,Schimpl G,Sixl B,Kerbler S,Ratschek M,Kilzer S,Hollwarth ME,Wenzl HH

    更新日期:1996-03-01 00:00:00

  • UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia.

    abstract::Genetic factors are implicated in pathogenesis of neonatal hyperbilirubinemia. In this nested case-control study, we determined 1) frequency of thymine-adenine (TA)n promoter polymorphism and Gly71Arg mutation in uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1) gene in neonates > or =35-wk gestation p...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Agrawal SK,Kumar P,Rathi R,Sharma N,DAS R,Prasad R,Narang A

    更新日期:2009-06-01 00:00:00

  • Haemophilus influenzae type B impairment of pial vessel autoregulation in rats.

    abstract::To examine the mechanisms of autoregulatory impairment in meningitis, we studied the effects of Haemophilus influenzae type b (Hib) on pial vessels during hemorrhagic hypotension in rats, using a cranial window technique. We prepared cranial windows in barbiturate-anesthetized, mechanically ventilated rats. Artificial...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Berkowitz ID,Hayden WR,Traystman RJ,Jones MD Jr

    更新日期:1993-01-01 00:00:00

  • Change in blood pressure during pubertal insulin resistance.

    abstract::To examine the levels and relationship of blood pressure and insulin during puberty, blood pressure and serum insulin were measured in 3596 subjects, aged 3-18 y, whose pubertal status was graded according to the Tanner classification. The same study protocol was repeated in two follow-up surveys 3 and 6 y later for 2...

    journal_title:Pediatric research

    pub_type: 临床试验,杂志文章,多中心研究


    authors: Taittonen L,Uhari M,Turtinen J,Nuutinen M

    更新日期:1997-02-01 00:00:00

  • Cutaneous microvascular dysfunction is associated with human leukocyte antigen-DQ in youths with type 1 diabetes.

    abstract::Functional disturbances in microcirculation in juvenile type 1 diabetes (T1D) are believed to underlie, in part, the later occurrence of cardiovascular complications. Some epidemiologic studies suggested greater risk of microvascular complications in those with T1D-risk genotypes of human leukocyte antigen (HLA). We i...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Odermarsky M,Lernmark A,Truedsson L,Liuba P

    更新日期:2008-04-01 00:00:00

  • Synergistic effect of influenza a virus on endotoxin-induced mortality in rat pups: a potential model for sudden infant death syndrome.

    abstract::Sudden infant death syndrome is the most common cause of postneonatal infant mortality in the developed world. It is a diagnosis of exclusion with peak age of incidence between 2 and 6 mo. Fifty to 63% of these infants have a preexisting upper respiratory tract infection before death. We hypothesized that the immature...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Blood-Siegfried J,Nyska A,Lieder H,Joe M,Vega L,Patterson R,Germolec D

    更新日期:2002-10-01 00:00:00

  • Gastrointestinal pathogens in anti-FH antibody positive and negative Hemolytic Uremic Syndrome.

    abstract:BACKGROUND:Prodromal symptoms are frequently reported in the atypical form of Hemolytic uremic syndrome (aHUS) suggesting implication of infectious triggers. Some pathogens may also play a role in the mechanisms of production of autoantibody directed against Factor H (FH), a complement regulator, leading to aHUS. METH...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Togarsimalemath SK,Si-Mohammed A,Puraswani M,Gupta A,Vabret A,Liguori S,Mariani-Kurkdjian P,Bagga A,Dragon-Durey MA

    更新日期:2018-07-01 00:00:00

  • Contribution of synchronized atrial systole to left ventricular contraction in the newborn pig heart.

    abstract::Synchronized atrial contraction may be much more important in the newborn, who has a faster heart rate and a less compliant ventricle, than in the adult. We therefore investigated the extent by which synchronized atrioventricular contraction contributes to cardiac output and cardiac work in a neonatal circulation, and...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Klautz RJ,Baan J,Teitel DF

    更新日期:1998-03-01 00:00:00

  • Combined effects of surfactant substitution and prolongation of inspiration phase in artificially ventilated premature newborn rabbits.

    abstract::Premature newborn rabbits, delivered by hysterotomy on day 27 of gestation, were tracheotomized at birth, kept in body plethysmographs, and subjected to pressure-generated ventilation at a working pressure of 25 cm H2O, 100% O2, and frequency 40/min. Thirty-seven animals received 50 microliters of heterologous surfact...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Lachmann B,Berggren P,Curstedt T,Grossmann G,Robertson B

    更新日期:1982-11-01 00:00:00

  • Interaction between inhaled nitric oxide and intravenous sildenafil in a porcine model of meconium aspiration syndrome.

    abstract::There has been recent interest in the use of the phosphodiesterase-5 inhibitor sildenafil for treating pulmonary hypertension. We examined the interaction between inhaled nitric oxide (iNO) and i.v. sildenafil in 12 piglets with acute pulmonary hypertension and lung injury secondary to meconium aspiration. Six animals...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Shekerdemian LS,Ravn HB,Penny DJ

    更新日期:2004-03-01 00:00:00

  • Neonatal body composition: dual-energy X-ray absorptiometry, magnetic resonance imaging, and three-dimensional chemical shift imaging versus chemical analysis in piglets.

    abstract::An animal study to evaluate dual-energy x-ray absorptiometry (DXA) and magnetic resonance (MR) imaging and spectroscopy for measurement of neonatal body composition was performed. Twenty-three piglets with body weights ranging from 848 to 7550 g were used. After measuring total body water, animals were killed and body...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Fusch C,Slotboom J,Fuehrer U,Schumacher R,Keisker A,Zimmermann W,Moessinger A,Boesch C,Blum J

    更新日期:1999-10-01 00:00:00

  • Posttranslational activation of endothelial nitric oxide synthase attenuates carbon tetrachloride-induced hepatotoxicity in newborn rats.

    abstract::Nitric Oxide (NO) can be cytotoxic or cytoprotective depending on amount and location of its generation. eNOS is important in modulating blood flow and is allosterically regulated. Inducible NOS (iNOS) tends to produce large quantities of NO leading to cell injury. We studied the role and regulation of NOS in carbon t...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Liu H,Subramony C,Nowicki M

    更新日期:2008-06-01 00:00:00

  • Blood coagulation changes after hypoxemia: a fetal lamb model.

    abstract::The effects of fetal hypoxemia on blood coagulation (platelet count, prothrombin time, partial thromboplastin time, fibrinogen, factors II, V, VI, VIII, IX, X, XI, XII, XIII and von Willebrands activities, fibrin degradation products, and fibrin monomer) were evaluated in nine chronically catheterized fetal lambs earl...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Kisker CT,Robillard JE,Clarke WR

    更新日期:1982-01-01 00:00:00

  • Neurosteroid replacement therapy using the allopregnanolone-analogue ganaxolone following preterm birth in male guinea pigs.

    abstract:BACKGROUND:Children born preterm, especially boys, are at increased risk of developing attention deficit hyperactivity disorder (ADHD) and learning difficulties. We propose that neurosteroid-replacement therapy with ganaxolone (GNX) following preterm birth may mitigate preterm-associated neurodevelopmental impairment. ...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Shaw JC,Dyson RM,Palliser HK,Gray C,Berry MJ,Hirst JJ

    更新日期:2019-01-01 00:00:00

  • Complementation analysis of carnitine palmitoyltransferase I and II defects.

    abstract::Carnitine palmitoyltransferase (CPT) consists of two activities located in the outer (CPT I) and the inner (CPT II) mitochondrial membranes. CPT II deficiency in the adult as well as in the infantile form of the disease has been shown to result from mutations in the CPT II cDNA. Nothing is known regarding the genetic ...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Slama A,Brivet M,Boutron A,Legrand A,Saudubray JM,Demaugre F

    更新日期:1996-10-01 00:00:00

  • NeoDoppler: New ultrasound technology for continous cerebral circulation monitoring in neonates.

    abstract:BACKGROUND:There is a strong need for continuous cerebral circulation monitoring in neonatal care, since suboptimal cerebral blood flow may lead to brain injuries in preterm infants and other critically ill neonates. NeoDoppler is a novel ultrasound system, which can be gently fixed to the anterior fontanel and measure...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Vik SD,Torp H,Follestad T,Støen R,Nyrnes SA

    更新日期:2020-01-01 00:00:00

  • Selected nutrient intakes of free-living white children ages 6-19 years. The Lipid Research Clinics Program Prevalence Study.

    abstract::We report energy intake and selected nutrient intakes-protein, fat (total, saturated, and polyunsaturated), carbohydrate (total, starch, and sucrose), and cholesterol-for 1251 white children ages 6-19 years. The data were obtained, by means of a 24-h dietary recall, from children who were randomly selected from the No...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Salz KM,Tamir I,Ernst N,Kwiterovich P,Glueck C,Christensen B,Larsen R,Pirhonen D,Prewitt TE,Scott LW

    更新日期:1983-02-01 00:00:00

  • Statins prevent adverse effects of postnatal glucocorticoid therapy on the developing brain in rats.

    abstract:BACKGROUND:Postnatal glucocorticoid therapy in the treatment of chronic lung disease benefits lung function, however it adversely affects brain development. We hypothesized that combined postnatal glucocorticoid and statin therapy diminishes adverse effects of glucocorticoids on the developing brain. METHODS:On postna...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Tijsseling D,Camm EJ,Richter HG,Herrera EA,Kane AD,Niu Y,Cross CM,de Vries WB,Derks JB,Giussani DA

    更新日期:2013-12-01 00:00:00

  • Reducing equivalent shuttles in developing porcine myocardium: enhanced capacity in the newborn heart.

    abstract::The metabolic demands of the newborn heart are met primarily by glucose and lactate. Mitochondria are impermeable to the NADH produced by these cytosolic reactions. The malate/aspartate and alpha-glycerophosphate (alpha-GP) shuttles provide two pathways to transport reducing equivalents into mitochondria. The goals of...

    journal_title:Pediatric research

    pub_type: 杂志文章


    authors: Scholz TD,Koppenhafer SL

    更新日期:1995-08-01 00:00:00

  • Effect of topical emollient treatment of preterm neonates in Bangladesh on invasion of pathogens into the bloodstream.

    abstract::Topical emollient therapy may reduce the incidence of serious infections and mortality of preterm infants in developing countries. We tested whether emollient therapy reduced the burden of pathogens on skin and/or prevented bacterial translocation. Neonates <33 wk gestational age were randomized to treatment with sunf...

    journal_title:Pediatric research

    pub_type: 杂志文章,随机对照试验


    authors: Darmstadt GL,Saha SK,Ahmed AS,Choi Y,Chowdhury MA,Islam M,Law PA,Ahmed S

    更新日期:2007-05-01 00:00:00