Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1.

Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder, in which deficiency of glutaryl-CoA dehydrogenase leads to accumulation of glutaric acid (GA) and 3-hydroxyglutaric acid (3-HG). Some low excretors may exhibit only slight elevation of urinary 3-HG, with normal urinary GA, yet are at significant risk of severe clinical disease. Accurate quantitation of urinary 3-HG is crucial in diagnostic workup for GA1, but in this context, current gas chromatography-mass spectrometry (GC-MS) methods have inherent analytical challenges.

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Introduction: To the best of our knowledge, clinically significant endogenous ethylene glycol production has never been reported in humans, very seldom reported in other animals or microorganisms, and then only under rare and specific conditions. We describe the detailed investigations we undertook in two adult monozygotic twin sisters to ascertain whether they were producing endogenous ethylene glycol.

Methods: Two previously healthy monozygotic adult twin sisters presented with recurrent episodes of apparent ethylene glycol poisoning beginning at age 35, requiring chronic hemodialysis to remove ethylene glycol and its metabolites as well as to restore metabolic homeostasis.

Effects of vanilla odor on hypoxia-related periodic breathing in premature newborns: A pilot study.

Background: Periodic breathing (PB)-related intermittent hypoxia can have long-lasting deleterious consequences in preterm infants. Olfactory stimulation using vanilla odor is beneficial for apnea of prematurity in the first postnatal days/weeks. We aimed to determine for the first time whether vanilla odor can also decrease PB-related intermittent hypoxia.

Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.

Ethylmalonic encephalopathy (EE) is caused by mutations in the ETHE1 gene. ETHE1 is vital for the catabolism of hydrogen sulfide (HS). Patients with pathogenic mutations in ETHE1 have markedly increased thiosulfate, which is a reliable index of HS levels.

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

Glutaric aciduria type 3 (GA3) is associated with decreased conversion of free glutaric acid to glutaryl-coA, reflecting deficiency of succinate-hydroxymethylglutarate coA-transferase, caused by variants in the SUGCT (C7orf10) gene. GA3 remains less well known, characterised and understood than glutaric aciduria types 1 and 2. It is generally considered a likely "non-disease," but this is based on limited supporting information, with only nine individuals with GA3 described in the literature.

Elevated ambient temperatures and risk of neural tube defects.

Objectives: The association between ambient heat and neural tube defects has received limited attention, despite imminent climate warming this century. We sought to determine the relationship between elevated outdoor temperatures during neurogenesis and risk of neural tube defects.

Methods: We carried out a retrospective cohort study of 887 710 fetuses between 3 and 4 weeks postconception from the months of April through September for 1988-2012 in Quebec, Canada.

Comparison of stillbirth rates by cause among Haitians and non-Haitians in Canada.

Objective: To compare rates of stillbirth among Haitians and non-Haitians in Canada.

Methods: A retrospective cohort study was performed using data on all stillborn and live-born singletons weighing at least 500 g in the province of Quebec, Canada, from 1981 to 2010. Stillbirth rates were computed, and hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated for Haitians relative to non-Haitians.

Maternal and fetal exposure to pesticides associated to genetically modified foods in Eastern Townships of Quebec, Canada.

Pesticides associated to genetically modified foods (PAGMF), are engineered to tolerate herbicides such as glyphosate (GLYP) and gluphosinate (GLUF) or insecticides such as the bacterial toxin bacillus thuringiensis (Bt). The aim of this study was to evaluate the correlation between maternal and fetal exposure, and to determine exposure levels of GLYP and its metabolite aminomethyl phosphoric acid (AMPA), GLUF and its metabolite 3-methylphosphinicopropionic acid (3-MPPA) and Cry1Ab protein (a Bt toxin) in Eastern Townships of Quebec, Canada. Blood of thirty pregnant women (PW) and thirty-nine nonpregnant women (NPW) were studied.

Blood-brain barrier disruption in the treatment of brain tumors.

Standard chemotherapy administered systemically has a limited efficacy in the treatment of brain tumors. One of the major obstacles in the treatment of brain neoplasias is the impediment to delivery across the intact blood-brain barrier (BBB). Many innovative approaches have been developed to circumvent this obstacle.

Potential biomarkers of preeclampsia: inverse correlation between hydrogen peroxide and nitric oxide early in maternal circulation and at term in placenta of women with preeclampsia.

Preeclampsia (PE) is a pregnancy-specific disease that has been associated with future cardiovascular disease for the mother and her child. The etiology of PE is unclear but oxidative stress seems to play a major role in endothelial dysfunction and permanent systemic vasoconstriction shown in PE. Hydrogen peroxide (H(2)O(2)), a terminal metabolite of the cellular oxidative stress cascade, is also revealed as a component of oxidative ischemia/reperfusion stress in placenta.

A blood-brain barrier disruption model eliminating the hemodynamic effect of ketamine.

Objective: We propose a simple modification to an established blood-brain barrier disruption (BBBD) animal model that allows us to use ketamine/xylazine as the anaesthetic agent, therefore decreasing the complexity and the cost of the model, while maintaining similar efficiency.

Methods: Sixty-two Long Evans rats were anaesthetized by intraperitoneal injection of ketamine/xylazine. Osmotic BBBD was performed by administering 25% mannitol into the internal carotid artery in a retrograde fashion from the external carotid.

Congenital fistula of the apex of the pyriform sinus: an overlooked phenomenon of debatable origin.

Fistula of the pyriform sinus apex is an often overlooked entity which generally manifests itself as acute suppurative thyroiditis or recurrent deep neck abscesses in children or young adults. Two cases are reported. Arguments in favor of a fourth pharyngeal pouch origin are stressed and the surgical management is described.