Biomarkers identified in inborn errors for lysine, arginine, and ornithine.

Inborn errors of lysine, arginine, and ornithine metabolism are very rare: only a few patients affected with these disorders have been carefully investigated, and very few reports on long-term outcome are available. These rare data make it difficult to define safety limits of these amino acids and useful biomarkers from these disorders. Only 4 disorders give rise to an important increase of the plasma amino acid concentration proximal to the metabolic block: lysine in 2-aminoadipic semialdehyde synthase deficiency, arginine in arginase deficiency, ornithine in ornithine amino transferase deficiency, and hyperammonemia hyperornithinemia homocitrullinuria syndrome.

[Diagnosis and management of cervicofacial congenital teratomas: about 4 cases, literature review and restatement].

Cervicofacial teratomas are rare developmental lesions, more often benign in their histology. They can lead to respiratory distress and death caused by airway obstruction at birth. Prenatal diagnosis raises on ultrasound examination precising locoregional consequences of the tumor and surgical possibilities.

[Infections caused by multiresistant bacteria].

Bacterial resistance to antibiotics is enhanced by antimicrobial selection pressure by antibiotics and the crossed transmission. Multiresistant bacteria (MRB) are involved in 1/5 of nosocomial infections and the 3/4 of the MRB are meticillin resistant Staphylococcus aureus and extended-spectrum-beta-lactamase-producing Enterobacteriaceae. The epidemic diffusion of these strains is still poorly controlled in our hospitals.

Low risk of nevirapine resistance mutations in the prevention of mother-to-child transmission of HIV-1: Agence Nationale de Recherches sur le SIDA Ditrame Plus, Abidjan, Cote d'Ivoire.

The frequency of resistance mutations was estimated in the cohort of Agence Nationale de Recherches sur le SIDA Ditrame Plus, a study that evaluated the combination of short-course zidovudine (ZDV) plus lamivudine (3TC) and single-dose nevirapine (SD-NVP) followed by 3 days of postpartum ZDV plus 3TC for the prevention of mother-to-child transmission of human immunodeficiency virus type 1 (HIV-1). The frequency with which resistance mutations were detected in mothers at week 4 postpartum was 1.14% (95% confidence interval [CI], 0.

Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.

Objective: Pyruvate carboxylase (PC) deficiency is a rare metabolic disease. Recently, therapeutic possibilities have been introduced. We aimed to report the largest series of the B type of PC deficiency, focusing on some neurological aspects that have not yet been documented.

Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.

Objectives: We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases.

Material And Methods: Fifty-seven newborns with MCs were identified in a retrospective review (1983-2002). We defined 2 different outcome categories: clinical (neurologic, hepatic, myopathic, and multiorganic) and biochemical (lactate level normalization or initially normal remaining unchanged, decreased but not normalized, and persistently high).

Prevalence of mixed cryoglobulins in relation to CD4 cell count among patients coinfected with HIV and hepatitis C virus.

Cryoglobulinemia was studied in human immunodeficiency virus-positive, hepatitis C virus (HCV)-positive patients in relation to their CD4 cell count. Cryoglobulinemia was found in 18 (31.6%) of 57 patients: 17 (44.

Endotracheal tube cuff pressure is unpredictable in children.

Unlabelled: The use of cuffed tracheal tubes in children younger than 8 yr of age has recently increased, although cuff hyperinflation may cause tracheal mucosal damage. In this study, we sought to measure the cuff pressure (P(cuff)) after initial free air inflation (iP(cuff)) and to follow its evolution throughout the duration of 50% nitrous oxide (N(2)O) anesthesia. One-hundred-seventy-four children, aged 0 to 9 yr, fulfilling the following criteria, were studied: 1).

Pediatric neurologic emergencies.

Neuroemergencies are life-threatening situations in which, whatever the cause, common pathologic phenomena result in secondary brain lesions. The goal of critical care management is to stop these self-aggravating processes as soon as possible. Initial resuscitation is devoted to control of the airway and hemodynamic and hydroelectrolytic stabilization.

Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia.

Objective: To evaluate the neurologic outcomes of neonates and infants suffering from persistent hyperinsulinemic hypoglycemia of infancy (PHHI).

Methods: The neurologic development of 90 PHHI patients was studied retrospectively. Sixty-three patients were treated surgically and 27 were treated medically.

Emergency management of deeply comatose children with acute rupture of cerebral arteriovenous malformations.

Purpose: To assess the impact of emergency management on mortality and morbidity of acute rupture of cerebral arteriovenous malformations resulting in deep coma in children, and the factors predicting outcome.

Methods: Retrospective chart review of 20 children with a Glasgow Coma Scale < or = 8 with acute hemorrhagic stroke from a cerebral arteriovenous malformation rupture was conducted. Protocol included: early resuscitation with tracheal intubation and ventilation after induction of anesthesia with sufentanil, and benzodiazepine, and mannitol 20% or hypertonic saline 7.

Tienilic acid-induced autoimmune hepatitis: anti-liver and-kidney microsomal type 2 autoantibodies recognize a three-site conformational epitope on cytochrome P4502C9.

Tienilic acid-induced hepatitis is characterized by the presence of anti-liver and -kidney microsomal (anti-LKM2) autoantibodies in patient sera. Cytochrome P4502C9(CYP2C9), involved in the metabolism of tienilic acid, was shown to be a target for tienilic acid-reactive metabolites and for autoantibodies. To further investigate the relationship between drug metabolism and the pathogenesis of this drug-induced autoimmune disease, the specificity of anti-LKM2 autoantibodies toward CYP2C9 was first determined, and the antigenic sites on CYP2C9 were localized.

Unapparent systemic dissemination of Mycobacterium tuberculosis.

A healthy 6-week-old girl exposed to tuberculosis presented a positive DNA amplification for Mycobacterium tuberculosis complex in gastric aspirates and cerebrospinal fluid whereas she had no other clinical or biological symptoms. Cultures were negative. This report underlines the interest of polymerase chain reaction for early diagnosis of tuberculosis and suggests the importance of treating exposed neonates and young infants just as active tuberculosis.

Luminal pH in the amphibian distal tubule: effects of carbonic anhydrase and carbonic anhydrase inhibitors.

To better delineate acid-base transport properties in the distal tubule (DT) of Necturus in vivo, we 1) studied the effects of peritubular (pt) isohydric increase of PCO2 and [HCO3-]pt on luminal pH (pHlu), and 2) measured the steady-state pHlu under various experimental conditions. The experiments were carried out on initial (DTi) or distal (DTd) loops of the DT in control state and then during intravenous infusion of carbonic anhydrase (CA) or CA inhibitors (CAI). In control state, isohydric increase of PCO2 and [HCO3-]pt results in transient acidification of the DTi lumen, whereas in DTd lumen the same maneuver yields sustained (plateau) acidification.

Thyroglobulin secretion by cultured human thyroid cells from cold nodules.

An elevated serum thyroglobulin level has been demonstrated in patients with cold nodules, without determination of the exact cause. In this preliminary study, we examined thyroglobulin production in vitro by cells from cold nodules and compared it to that of normal cells taken from the contralateral lobe of the same patient. Cells were cultured in monolayer and in collagen gel.