Abstract:
:Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos. The outcome remains poor for this group of patients and would benefit from early diagnosis to anticipate ventilation and possible metabolic disorders. Tumor predisposition is more frequent than initially suspected and as high as 40% in this series. These tumors of the sympathetic nervous system (TSNS) are usually differentiated and do not significantly worsen the prognosis. We report a familial case with recurrence in siblings. The cause underlying LO-CHS/HD remains poorly understood although recurrence in siblings argues for a monogenic disorder. We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms.
journal_name
Pediatr Resjournal_title
Pediatric researchauthors
De Pontual L,Trochet D,Caillat-Zucman S,Abou Shenab OA,Bougneres P,Crow Y,Cunningham S,Esteva B,Heberle LC,Leger J,Pinto G,Polak M,Shafik MH,Straus C,Trang H,Munnich A,Lyonnet S,Desguerre I,Amiel Jdoi
10.1203/PDR.0b013e318187dd0esubject
Has Abstractpub_date
2008-12-01 00:00:00pages
689-94issue
6eissn
0031-3998issn
1530-0447journal_volume
64pub_type
杂志文章abstract::Bilirubin-IX alpha photooxidation products were detected by high performance liquid chromatography in the urine of neonates undergoing phototherapy for hyperbilirubinemia. The in vivo photoproducts were identified by chromatographic comparison with authentic synthetic standards using two complementary methods. Bilirub...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198408000-00003
更新日期:1984-08-01 00:00:00
abstract::Although fetal asphyxia, i.e. hypoxemia, acidosis, and hypercapnia, increases plasma arginine vasopressin (AVP) greater than 40-fold, hypoxemia and metabolic acidosis occurring independently cause only 5-fold and 2-fold increases, respectively. To determine the effects of hypercapnia on AVP release, we examined the ef...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199110000-00014
更新日期:1991-10-01 00:00:00
abstract::We studied the hemodynamic responses of 29 anesthetized and mechanically ventilated piglets to acute hypoxia [reduction of Pao2 from 130 to 38 mm Hg induced by inhalation of 7% fraction of inspired oxygen (Fio2) for 7.5 min] before and during group B beta-hemolytic streptococci (GBS) sepsis. During hypoxia, nonseptic ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-200004000-00017
更新日期:2000-04-01 00:00:00
abstract::Carlo Agostoni, MD, and Kwang Sik Kim, MD, are the Guest Editors for this annual review issue on Nutrition and the Microbiome. Dr Agostoni is a Professor of Pediatrics at the Department of Clinical Sciences and Community Health, University of Milan, within the Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, ...
journal_title:Pediatric research
pub_type: 历史文章
doi:10.1038/pr.2014.195
更新日期:2015-01-01 00:00:00
abstract::The present study examined the extent to which abundance of the prolactin receptor (PRLR) and a range of primary mitochondrial proteins are influenced by either maternal nutrition and/or fetal number in adipose tissue. Pregnant sheep were control fed [consuming 100% of total metabolizable energy (ME) requirements (tak...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000047653.73271.C4
更新日期:2003-02-01 00:00:00
abstract::Sugar alcohols have been found to play an important osmoregulatory role both in unicellular organisms and, more recently, in multicellular organisms, including mammals. This study shows that myo-inositol accumulates in the brains of chronically hypernatremic mice, as had been earlier found in rats, and demonstrates fo...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198911000-00024
更新日期:1989-11-01 00:00:00
abstract::Yesterday's immunodeficiencies emphasized the clinical and familial associations of the syndromes and date from the 1920s (ataxia-telangiectasia, chronic mucocutaneous candidiasis), the 1930s (Wiskott-Aldrich syndrome), skipping the 1940s, but blossoming in the 15-y period from 1950 to 1965. In this period, primary im...
journal_title:Pediatric research
pub_type: 历史文章,杂志文章,评审
doi:10.1203/00006450-199305001-00007
更新日期:1993-01-01 00:00:00
abstract::Cerebral blood flow (CBF) measurement by near infrared spectroscopy (NIRS) using oxyhemoglobin (HbO2) as a tracer (CBF-HbO2) needs rapid changes in arterial oxygen saturation (SaO2) which often cannot be achieved in many sick infants. An alternative method based on the same adaptation of the Fick principle using i.v. ...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199801000-00006
更新日期:1998-01-01 00:00:00
abstract::Several lines of evidence suggest that formula with protein content of 3.0 g/100 kcal does not fully meet the protein needs of very-low-birth weight infants. Our purpose was to compare nitrogen balance, metabolic status and growth in infants fed a standard (3.0 g/100 kcal; RegPro) and high (3.6 g/100 kcal; HiPro) prot...
journal_title:Pediatric research
pub_type: 杂志文章,随机对照试验
doi:10.1203/01.pdr.0000196376.99101.34
更新日期:2006-02-01 00:00:00
abstract::In human infants and newborn rats, white light at the intensity used to treat hyperbilirubinemia lowers serum calcium concentration. Occipital shielding or (in newborn rats) exogenous melatonin prevents this effect. Propranolol, by inhibiting melatonin synthesis, also causes hypocalcemia, which is preventable by melat...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199006000-00006
更新日期:1990-06-01 00:00:00
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
doi:10.1203/00006450-199910000-00018
更新日期:1999-10-01 00:00:00
abstract::We measured the changes in tidal volume, duration of the various phases of the respiratory cycle, and peak nasal pressure during elastic and resistive loading in preterm infants. Values were calculated during the first loaded breath, when chemical drive was unchanged. Tidal volume decreased by equivalent percentages w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197704000-00002
更新日期:1977-04-01 00:00:00
abstract::The present study investigates the effects of polycythemia on renal hemodynamics and function in 15 anesthetized newborn dogs, 2-10 days of age. Microspheres were used to study renal blood flow. Experimental animals received an exchange transfusion with adult dog packed red blood cells resulting in an increase in hema...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198202000-00014
更新日期:1982-02-01 00:00:00
abstract::Data are scant regarding the development of cerebrovascular autoregulation in intrauterine growth-restricted (IUGR) newborns. We tested the hypothesis that IUGR improves the ability of neonates to withstand critical periods of gradual hemorrhagic hypotension by optimizing cerebrovascular autoregulation. Studies were c...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000139425.94975.77
更新日期:2004-10-01 00:00:00
abstract::L-selectin, a surface adhesion glycoprotein expressed on leukocytes, has a well-established role in mediating inflammation and lymphocyte recirculation. Recent evidence suggests that L-selectin may also influence hematopoiesis. We observed that a greater proportion of CD34+ cells express L-selectin in cord blood compa...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199906000-00015
更新日期:1999-06-01 00:00:00
abstract::To evaluate the maturation of glucose homeostasis in the small for gestational age (SGA) neonate, glucose kinetics were measured with 78% enriched D-[U-13C]glucose by the prime plus constant infusion technique in nine SGA infants and compared with the rate obtained in seven term appropriate for gestational age infants...
journal_title:Pediatric research
pub_type: 杂志文章
doi:
更新日期:1984-01-01 00:00:00
abstract::To determine whether epidermal growth factor (EGF) or EGF-like transforming growth factors (TGFs) are present in ovine fetal tissues, we have tested acid-ethanol extracts of ovine fetal kidney for the ability to induce anchorage-independent growth of normal rat kidney fibroblasts in soft agar and to compete with 125I-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198711000-00026
更新日期:1987-11-01 00:00:00
abstract::BACKGROUNDLow birth weight is associated with childhood stunting, but equivalent associations for birth body composition (BC) remain unknown. The aim of this study was to assess associations between birth BC and height-for-age z-score (HAZ) at 2 years of age.METHODSIn a prospective cohort study, fat mass (FM) and fat-...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.59
更新日期:2017-08-01 00:00:00
abstract::Factors affecting bone turnover in premature infants are not entirely clear but certainly are different from those influencing bones of adults and children. To identify fetal and maternal factors that might influence bone turnover, we prospectively studied 50 infants (30 preterm and 20 full-term) born at Ain Shams Uni...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.PDR.0000160591.70409.C8
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND:Pulmonary hypertension (PH) in patients with bronchopulmonary dysplasia (BPD) results from vasoconstriction and/or vascular remodeling, which can be regulated by mitogen-activated protein kinases (MAPKs). MAPKs are deactivated by dual-specificity phosphatases (DUSPs). We hypothesized that single-nucleotide p...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-019-0502-9
更新日期:2020-01-01 00:00:00
abstract::To localize fetal rabbit lung beta-adrenoreceptors before and after glucocorticoid treatment, light microscopic autoradiography was performed with the reversible radiolabeled beta-adrenergic antagonist, [3H]dihydroalprenolol, on day 26 of gestation. Autoradiograms of adult lung and fetal myocardium were also prepared....
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-198411000-00028
更新日期:1984-11-01 00:00:00
abstract::To determine whether human milk contained soluble receptors and cytokine antagonists that might contribute to its anti-inflammatory properties, ELISA and enzyme-amplified sensitivity immunoassay methods were used to quantitate soluble intercellular and vascular cell adhesion molecules, soluble E-selectin, soluble IL-6...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199612000-00011
更新日期:1996-12-01 00:00:00
abstract::BackgroundExtracellular adenine nucleotides contribute to ischemia-reperfusion injury following infant cardiopulmonary bypass (CPB), whereas conversion to adenosine may be protective. Alkaline phosphatase (AP), a key enzyme responsible for this conversion, decreases after infant CPB. Indirect evidence suggests that so...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/pr.2017.325
更新日期:2018-04-01 00:00:00
abstract::Previous studies have demonstrated that myocardial function changes during mammalian perinatal development. The purpose of this study was to evaluate the subcellular basis underlying the slower relaxation in the developing heart by examining perinatal changes in sarcoplasmic reticulum (SR) function, and in SR Ca2+ pum...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-199205000-00012
更新日期:1992-05-01 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
pub_type: 杂志文章
doi:10.1203/00006450-198410000-00013
更新日期:1984-10-01 00:00:00
abstract:BACKGROUND:After birth, breastfeeding is the exclusive source of hormonal signaling between mother and infant. Hospitalized infants often receive donor milk when their own mother's milk is unavailable. METHODS:The presence of insulin, leptin, cortisol, progesterone, and testosterone was examined in samples from milk b...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1038/s41390-020-0789-6
更新日期:2020-10-01 00:00:00
abstract::Previous studies suggest that the endotoxin lipopolysaccharide (LPS) may have dual effects on brain damage induced by hypoxia-ischemia (HI) in 7-d-old rats, depending on the exposure paradigm. Although a 4-h interval between LPS administration and HI results in sensitization to HI brain injury, tolerance is observed w...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/01.pdr.0000191140.87314.ce
更新日期:2006-01-01 00:00:00
abstract::Sudden infant death syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. Although the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological, and environmental (i.e., infant sleep) factors. T...
journal_title:Pediatric research
pub_type: 杂志文章,评审
doi:10.1038/pr.2014.90
更新日期:2014-09-01 00:00:00
abstract::Four protein dietary groups of rats were used in this study, namely: 27% casein diet fed throughout gestation and lactation (group C-C); 27% gestation, 10% lactation (group C-D); 10% gestation, 27% lactation (group D-C); 10% throughout gestation and lactation (group D-D). Mean body weight of group D-D at warning was 1...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/00006450-197503000-00008
更新日期:1975-03-01 00:00:00
abstract::In mice, secondary alveolar septal formation primarily occurs during a brief postnatal period and is accompanied by transient expansion of the interstitial lung fibroblast (LF) population. PDGF-A, which solely signals through PDGF-receptor-alpha (PDGF-Rα), is required for expansion, but the receptor's relevant downstr...
journal_title:Pediatric research
pub_type: 杂志文章
doi:10.1203/PDR.0b013e31821cfb5a
更新日期:2011-07-01 00:00:00