A severe pediatric life-threatening metabolic ketoacidosis.

This case report presents a 9-year-old child without underlying pathology, with a severe life-threatening non-diabetic metabolic ketoacidosis occurring less than 48 h after the onset of fasting and vomiting. The patient was admitted to the pediatric intensive care unit. He received volume expansion and maintenance fluid therapy which allowed a favorable evolution.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.

Methods: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events.

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.

Background: MEGDHEL is an autosomal recessive syndrome defined as 3-MEthylGlutaconic aciduria (3-MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh-like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism.

Methods: We report the case of a young patient who presented with a convulsive encephalopathy, 3-methylglutaconic aciduria, deafness, and bilateral T2 hypersignals of the putamen and the thalami, who passed away at 8 years of age.

Results: Analysis of nuclear genes using an ampliSeq targeted custom panel disclosed two compound heterozygous variants in the SERAC1 gene: a nonsense substitution in exon 4, c.

Pharmacokinetics of Metformin in Combination With Sitagliptin in Adult Horses After Enteral Administration.

Insulin dysregulation (ID) is a common metabolic disorder in horses. Recently, incretin hormone release has been suggested to be involved in ID in horses. In human medicine, metformin and sitagliptin are commonly used in combination for metabolic syndrome.

Pharmacokinetics of praziquantel and pyrantel pamoate combination following oral administration in cats.

Objectives The pharmacokinetics of praziquantel and pyrantel pamoate has never been reported in cats. The present study was designed to establish the plasma concentration-time profile and to derive pharmacokinetic data for a combined formulation of praziquantel and pyrantel in cats, after a single, oral administration. Methods Twenty-two clinically healthy adult cats were used, each receiving a single oral dose of praziquantel (8.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Background: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism.

Objectives: To better characterise the natural history of PMM2-CDG.

Methods: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed.

[Management and prevention of cow's milk protein allergy: Contribution of community pharmacists].

Cow's milk protein allergy (CMPA) is a public health issue in children whose quality of life is strongly affected. The objective of this article is to review the present state of knowledge on the CMPA, and highlight some emerging alternatives in its management and in its prevention. Good knowledge in the appropriate infant formula, exclusion diets, the handling of the emergency treatment thanks to the use of epinephrine auto-injector pens, the use of personalized care project and accessibility to allergic patients' association are factors that secure the management.

Severe early-onset colitis revealing mevalonate kinase deficiency.

Hyperimmunoglobulinemia D is the less severe form of mevalonate kinase deficiency (MKD) caused by recessive inherited mutation in the mevalonate kinase gene. Hyperimmunoglobulinemia D is characterized by febrile attacks, often associated with transient digestive manifestations, such as abdominal pain, diarrhea, and vomiting. Here we report for the first time 2 patients with MKD revealed by severe neonatal colitis.

Detection of human bocavirus in hospitalised children.

Aim: The objectives of this study are to assess the frequency of human bocavirus (HBoV) infection in hospitalised children and to study the clinical symptoms associated with the detection of HBoV.

Methods: Two groups of hospitalised children were included in this study: group 1 consisted of 1946 children hospitalised from 1st September 2004 to 30th May 2005, and group 2 consisted of 448 children hospitalised from 1st November 2003 to 30th March 2004. The respiratory specimens were tested by polymerase chain reaction.

[Epidemiology of acute upper and lower respiratory tract infections in children].

More than 200 antigenically distinct viruses have been documented as causes of sporadic or epidemic respiratory infections in infants and children. The lung itself is rarely sampled directly, and sputum representing lower-airway secretions can rarely be obtained from children. In addition culture of secretions from upper respiratory tract is not useful since the normal flora includes the bacteria commonly responsible for pneumonia.

[Pseudomonas aeruginosa and cystic fibrosis: first colonization to chronic infection].

Pseudomonas aeruginosa (Pa) is the most common virulent respiratory pathogen in cystic fibrosis and is characterized by an important capacity of adaptation, adherence and communication. The factors of virulence of Pa play a major part in adherence with the respiratory epithelial cells and in occurrence of infectious episodes. The factors responsible for the transition of first Pa acquisition to the chronic infection are not elucidated yet.

Characterization of emissions during the heating of tyre contaminated scrap.

In order to characterize the compounds (type and quantities) emitted during melting of organic contaminated scrap and to investigate the mechanism of their formation, an experimental set-up has been designed and built to study precisely the influence of temperature and gas atmosphere in the conditions of an electric arc furnace. These experiments lead to the determination of mass balances (C, H, O, S) and to the quantification of unburnt compounds (tars, carbon monoxide, volatile organic compounds (VOCs), benzene, toluene, ethylbenzene and xylenes (BTEX), polyaromatic compounds (PAHs)). Degradation conditions (gas atmosphere and temperature) corresponding to different areas in the electric furnace have also been investigated.

[Malignant tumors in the relatives of stomach cancer patients].

The author has studied the predisposition to gastric cancer in familiar probands of russian nationality suffering cancer of the stomach. An analysis of the gastric-cancer incidence among the groups of individuals of different degree of kinship of male and female probands indicates their various predisposition only to cancer of the stomach. Most frequently the affection was noted in the blood relations of female probands (mothers, sisters, and daughters).