Abstract:
OBJECTIVE:To describe three female patients of one family with different phenotypes of the same mutation of the ornithine transcarbamylase gene. X-linked inherited ornithine transcarbamylase deficiency is the most frequent urea cycle disorder. Many of the hemizygous males die during the neonatal period. Women, who are mostly healthy carriers, can also develop symptomatic hyperammonemia. DESIGN:Case study. SETTING:Intensive care unit and internal medicine unit at a university hospital. PATIENTS:The 20-yr-old female propositus was hospitalized for unexplained coma. She had a history of headaches, recurrent vomiting, specific anorexia for high-protein foods, and an acute neurologic crisis with alleged food poisoning 8 yrs before. The present episode began with psychiatric symptoms and seizures treated by diazepam and valproate. This unexplained coma, associated with respiratory alkalosis and major brain swelling on brain computed tomography scan, revealed hyperammonemia leading to the diagnosis of ornithine transcarbamylase deficiency. Continuous venovenous hemodiafiltration and treatment with sodium benzoate and phenylbutyrate improved the situation. However, the patient had some neurologic sequelae. DNA studies have disclosed a pathogenic mutation in the ornithine transcarbamylase gene of the patient, her mother, and her sister. For the mother, the disease was overlooked despite the onset of unusual headaches and neurologic signs that mimicked a cerebral tumor 12 yrs before. The 28-yr-old sister of the propositus has always been asymptomatic, even during pregnancy. CONCLUSIONS:Diagnosis of urea cycle disorder should be considered in any patient with unexplained neurologic and psychiatric disorders with selective anorexia, even in adulthood. Unexplained coma with cerebral edema and respiratory alkalosis requires urgent measurement of ammonemia and metabolic work-up.
journal_name
Crit Care Medjournal_title
Critical care medicineauthors
Legras A,Labarthe F,Maillot F,Garrigue MA,Kouatchet A,Ogier de Baulny Hdoi
10.1097/00003246-200201000-00035subject
Has Abstractpub_date
2002-01-01 00:00:00pages
241-4issue
1eissn
0090-3493issn
1530-0293journal_volume
30pub_type
杂志文章abstract:OBJECTIVES:This report examines the frequency, type, and prognostic factors of medical (nonneurologic) complications after subarachnoid hemorrhage in a large, prospective study. The influences of contemporary neurosurgical, neurological, and critical care practice on mortality and morbidity rates after aneurysmal subar...
journal_title:Critical care medicine
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1097/00003246-199506000-00004
更新日期:1995-06-01 00:00:00
abstract:OBJECTIVE:To investigate whether inhibition of cyclooxygenase-2, a critical component of the inflammatory pathway, is neuroprotective in a neonatal rat model of cerebral hypoxia-ischemia. The development of brain inflammation largely contributes to neonatal brain injury that may lead to a lifetime of neurologic deficit...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0b013e3181cb1158
更新日期:2010-02-01 00:00:00
abstract:OBJECTIVE:Physiologic and pathologic comparison of two modes of assisted ventilation, nasal intermittent positive-pressure ventilation (NIPPV) and synchronized intermittent mandatory ventilation (SIMV), in spontaneously breathing term newborn piglets with saline lavage-induced lung injury. DESIGN:After inducing acute ...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/01.CCM.0000295311.61378.7D
更新日期:2008-01-01 00:00:00
abstract:OBJECTIVE:To evaluate the role of cholesterol and lipoproteins in children with severe meningococcal sepsis. DESIGN:Retrospective observational study. SETTING:A university-affiliated pediatric intensive care unit. PATIENTS:Fifty-seven patients admitted to the pediatric intensive care unit with meningococcal sepsis o...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/01.ccm.0000171272.50888.ad
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:Circulating serum levels of procalcitonin rise significantly during bacterial infection. Because calcitonin is known to be a monocyte chemoattractant, we investigated whether procalcitonin, a prohormone of calcitonin, also affects leukocyte migration. DESIGN:Prospective, controlled in vitro study. SETTING:U...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-200205000-00025
更新日期:2002-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the comparative efficacy of enteral cisapride, metoclopramide, erythromycin, and placebo for promoting gastric emptying in critically ill patients with intolerance to gastric enteral nutrition (EN). DESIGN:A randomized, crossover study. SETTING:Adult medical intensive care unit at a university-a...
journal_title:Critical care medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00003246-200002000-00025
更新日期:2000-02-01 00:00:00
abstract::Humidification of inspired gases is indispensible to prevent serious injury to the tracheal mucosa of patients on mechanical ventilation. High-frequency jet ventilation (HFJV), recently introduced for the management of some forms of respiratory failure, presents unusual technical problems of humidification. The presen...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-198502000-00013
更新日期:1985-02-01 00:00:00
abstract:OBJECTIVES:The results from the recent Targeted Temperature Management trial raised the question whether cooling or merely the avoidance of fever mediates better neurologic outcome in resuscitated patients. As temperature per se is a major determinant of cardiac function, we characterized the effects of hyperthermia (4...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0000000000001358
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVES:To measure temporal trends in survival over time in people with severe coronavirus disease 2019 requiring critical care (high dependency unit or ICU) management, and to assess whether temporal variation in mortality was explained by changes in patient demographics and comorbidity burden over time. DESIGN:Re...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0000000000004747
更新日期:2021-02-01 00:00:00
abstract:OBJECTIVE:To assess whether clinical variables might be useful in selecting patients who will have an acute intracranial abnormality seen in head computed tomographic scans (HCT). DESIGN:Retrospective study. SETTING:Medical intensive care unit (MICU) in a tertiary teaching hospital. MEASUREMENTS:Medical records of p...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-200005000-00008
更新日期:2000-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the role of amino acid profiles in septic encephalopathy. DESIGN:Retrospective analysis. SETTING:Medical wards and medical ICU of a university hospital. PATIENTS:Patients with infections and normal mental status were compared with patients with septic shock and altered sensorium. INTERVENTIONS...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-199106000-00004
更新日期:1991-06-01 00:00:00
abstract:OBJECTIVE:To determine the pharmacokinetics of fentanyl when used as a long-term continuous infusion for sedation/analgesia in mechanically ventilated critically ill infants and children. DESIGN:Prospective, case series. SETTING:A university hospital pediatric intensive care unit (ICU). PATIENTS:Nineteen mechanicall...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-199307000-00012
更新日期:1993-07-01 00:00:00
abstract:OBJECTIVES:Microcirculatory alterations are associated with adverse outcome in subsets of critically ill patients. The prevalence and significance of microcirculatory alterations in the general ICU population are unknown. We studied the prevalence of microcirculatory alterations in a heterogeneous ICU population and it...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0000000000000553
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To comparatively evaluate cerebral metabolic rate of oxygen consumption and a modification of it, cerebral consumption of oxygen, in patients with acute brain injury with acute anemia. DESIGN:Prospective, observational study. SETTING:Neuroscience intensive care unit (ICU) of a university hospital. PATIENTS...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-199308000-00024
更新日期:1993-08-01 00:00:00
abstract:OBJECTIVE:Cerebral perfusion pressure<40 mm Hg following pediatric traumatic brain injury has been associated with increased mortality independent of age, and current guidelines recommend maintaining cerebral perfusion pressure between 40 mm Hg-60 mm Hg. Although adult traumatic brain injury studies have observed an in...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0b013e31825333e6
更新日期:2012-08-01 00:00:00
abstract:OBJECTIVE:To compare the effectiveness and safety of the hemoglobin-based nitric oxide scavenger, pyridoxalated hemoglobin polyoxyethylene, against placebo in patients with vasopressor-dependent distributive shock. DESIGN:Multicenter, randomized, placebo-controlled, open-label study. SETTING:Sixty-one participating I...
journal_title:Critical care medicine
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1097/CCM.0000000000000554
更新日期:2015-01-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that the lectin-like domain of tumor necrosis factor, mimicked by the TIP peptide, can improve lung function after unilateral orthotopic lung isotransplantation. Because of a lack of a specific treatment for ischemia reperfusion-mediated lung injury, accompanied by a disrupted barrier i...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0b013e3181cdf725
更新日期:2010-03-01 00:00:00
abstract:OBJECTIVE:Levosimendan is a novel inodilator that improves cardiac contractility by sensitizing troponin C to calcium. This drug has proved to be effective in treating advanced congestive heart failure but has not been evaluated in septic settings. The purpose of the present study was to study the effects of this drug ...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-200111000-00022
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:Therapeutic hypothermia has been used to attenuate the effects of traumatic brain injuries. However, the required degree of hypothermia, length of its use, and its timing are uncertain. We undertook a comprehensive meta-analysis to quantify benefits of hypothermia therapy for traumatic brain injuries in adult...
journal_title:Critical care medicine
pub_type: 杂志文章,meta分析,评审
doi:10.1097/CCM.0000000000002205
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to evaluate the efficacy of perioperative intra-aortic balloon pump use in high-risk cardiac surgery patients. DESIGN:A single-center randomized controlled trial and a meta-analysis of randomized controlled trials. SETTING:Heart Institute of São Paulo University. PATIENTS:High-ri...
journal_title:Critical care medicine
pub_type: 杂志文章,随机对照试验
doi:10.1097/CCM.0000000000003185
更新日期:2018-08-01 00:00:00
abstract:OBJECTIVE:Although the development of ventilator-associated pneumonia (VAP) is assumed to increase costs of intensive care unit stay, it is unknown whether prevention of VAP by means of oropharyngeal decontamination is cost-effective. Because of wide ranges of individual patient costs, crude cost comparisons did not sh...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/01.CCM.0000104111.61317.4B
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVES:Increases in exhaled nitric oxide have been demonstrated to originate from the lungs of rats after septic lung injury. The aim of this study was to investigate whether treatment with the nitric oxide synthase inhibitor N-nitro-L-arginine methyl ester (L-NAME) would prevent lipopolysaccharide (LPS)-induced in...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-199802000-00033
更新日期:1998-02-01 00:00:00
abstract:OBJECTIVES:The mortality outcome of mechanical ventilation, a key intervention in the critically ill, has been variously reported to be determined by intensive care patient volume. We determined the volume-(mortality)-outcome relationship of mechanically ventilated patients whose records were contributed to the Austral...
journal_title:Critical care medicine
pub_type: 杂志文章,多中心研究
doi:10.1097/CCM.0b013e318236f2af
更新日期:2012-03-01 00:00:00
abstract:OBJECTIVES:To examine a hygroscopic condenser after clinical use and to describe the interaction of a hygroscopic condenser and a closed circuit suction system used simultaneously. DESIGN:Prospective evaluation of hygroscopic condensers used clinically, and laboratory investigation of a hygroscopic condenser used with...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:
更新日期:1994-10-01 00:00:00
abstract:OBJECTIVES:To determine whether aerosolized antibiotics can be delivered efficiently to the lower respiratory tract in mechanically ventilated patients and to define possible clinical responses to these agents. DESIGN:Prospective serial study with cases as their own control. SETTING:A 10-bed respiratory care unit for...
journal_title:Critical care medicine
pub_type: 临床试验,杂志文章
doi:10.1097/00003246-199801000-00013
更新日期:1998-01-01 00:00:00
abstract::Reimbursement policies are a critical step in the incorporation of new technologies and therapies into the clinical armamentarium. Reimbursement is an umbrella concept describing the process to manage and pay for healthcare services, including benefit coverage, coding, and payment processes. The technologies and servi...
journal_title:Critical care medicine
pub_type: 杂志文章,评审
doi:10.1097/CCM.0b013e3181aa6288
更新日期:2009-07-01 00:00:00
abstract:OBJECTIVE:To compare silver-coated and uncoated central venous catheters regarding bacterial colonization. To assess the relative contribution of catheter hub and skin colonization to catheter tip colonization. DESIGN:Prospective, randomized clinical trial. SETTING:Intensive care unit in a university hospital. PATIE...
journal_title:Critical care medicine
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1097/00003246-199903000-00028
更新日期:1999-03-01 00:00:00
abstract::The effects of hypertonic mannitol on postischemic cerebral circulation were studied in 20 dogs. Mannitol, 2 g/kg iv, was infused into ten dogs during a 2-h period starting 1.5 h after 6 min of complete cerebral ischemia. One hour postischemia, regional cerebral blood flow (rCBF) was 36% in the control group (ten dogs...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/00003246-198607000-00010
更新日期:1986-07-01 00:00:00
abstract:OBJECTIVES:Acute hemolysis is associated with organ damage, inflammation, and impaired vascular function. Stimulation of the cholecystokinin-1 receptor-dependent vagal anti-inflammatory reflex with lipid-rich enteral nutrition was demonstrated to prevent tissue damage and attenuate inflammation. This study investigates...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/CCM.0b013e31828e9262
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVES:Interventions that reduce the generation or the effects of reactive oxygen species exert controversial effects in animal models of lung injury, and these could be secondary to the pro-oxidant effects of antioxidants generally by their interaction with iron. We here describe the effects of N-acetylcysteine, d...
journal_title:Critical care medicine
pub_type: 杂志文章
doi:10.1097/01.ccm.0000199069.19193.89
更新日期:2006-02-01 00:00:00