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1.
Nutrients ; 11(2)2019 Jan 22.
Article in English | MEDLINE | ID: mdl-30678232

ABSTRACT

Presently, undernutrition still goes undetected in pediatric hospitals despite its association with poor clinical outcomes and increased annual hospital costs, thus affecting both the patient and the health care system. The reported prevalence of undernutrition in pediatric patients seeking care or hospitalized varies considerably, ranging from 2.5 to 51%. This disparity is mostly due to the diversity of the origin of populations studied, methods used to detect and assess nutritional status, as well as the lack of consensus for defining pediatric undernutrition. The prevalence among inpatients is likely to be higher than that observed for the community at large, since malnourished children are likely to have a pre-existent disease or to develop medical complications. Meanwhile, growing evidence indicates that the nutritional status of sick children deteriorates during the course of hospitalization. Moreover, the absence of systematic nutritional screening in this environment may lead to an underestimation of this condition. The present review aims to critically discuss studies documenting the prevalence of malnutrition in pediatric hospitals in developed and in-transition countries and identifying hospital practices that may jeopardize the nutritional status of hospitalized children.


Subject(s)
Child Nutrition Disorders/diet therapy , Child Nutrition Disorders/etiology , Child, Hospitalized , Developing Countries , Hospitals, Pediatric/organization & administration , Child , Humans
2.
Anal Bioanal Chem ; 410(29): 7711-7721, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30267273

ABSTRACT

Today, one of the most popular strategies in drug delivery is the encapsulation of therapeutic agents in supramolecular nanosystems formed from amphiphilic molecules. Synthetic nucleoside-lipids, composed of one nucleoside and lipidic chains, constitute promising new amphiphilic excipients under research in the field of pharmaceutical and biomedical applications. The aim of this work was to study the chromatographic behavior of these nucleoside-lipids in reversed-phase HPLC to establish appropriate chromatographic conditions for their analysis in drug delivery systems. The effect of the stationary phase, the organic solvent, the pH* values, and pH modifier nature of the mobile phase were studied on retention, peak shape, and detection. Good chromatographic performance was achieved on both Syncronis® C18 and Acquity® BEH C18 with mobile phases composed of MeOH/water, 95:5 (v/v) mixtures at apparent pH above 5. Dual detection by diode array detection (DAD) and charged aerosol detection (CAD) was investigated. CAD signal was found to be dependent on the type of pH modifiers added to the mobile phase. In isocratic elution, the same order of magnitude of CAD responses was obtained for the tested nucleoside-lipids. This study led to suitable chromatographic conditions for purity and stability studies of nucleoside-lipids. The purity of the synthetized molecules was established to be superior to 98%. Different stability in organic solvents was noticed depending on nucleoside-lipid structure. This first study will allow quantitative applications to establish loading ratio and encapsulation yield in future drug delivery systems composed of nucleoside-lipid-based assemblies.


Subject(s)
Lipids/chemistry , Nucleosides/chemistry , Chromatography, High Pressure Liquid/methods , Lasers, Semiconductor
3.
Can J Gastroenterol Hepatol ; 2016: 1576360, 2016.
Article in English | MEDLINE | ID: mdl-27446824

ABSTRACT

The question about recommending pure, noncontaminated oats as part of the gluten-free diet of patients with celiac disease remains controversial. This might be due to gluten cross contamination and to the possible immunogenicity of some oat cultivars. In view of this controversy, a review of the scientific literature was conducted to highlight the latest findings published between 2008 and 2014 to examine the current knowledge on oats safety and celiac disease in Europe and North America. Results showed that regular oats consumed in Canada are largely contaminated. Overall, the consumption of pure oats has been generally considered to be safe for adults and children. However, it appears that some oat cultivars may trigger an immune response in sensitive individuals. Therefore, further long-term studies on the impact of consumption of oats identifying the cultivar(s) constitute an important step forward for drawing final recommendations. Furthermore, a closer and more accurate monitoring of the dietary intake of noncontaminated oats would be paramount to better determine what its actual contribution in the gluten-free diet of adults and children with celiac disease are in order to draw sound recommendations on the safety of pure oats as part of the gluten-free diet.


Subject(s)
Avena/chemistry , Avena/immunology , Celiac Disease/diet therapy , Diet, Gluten-Free , Glutens/analysis , Avena/adverse effects , Canada , Food Contamination , Humans
4.
Bioconjug Chem ; 27(3): 569-75, 2016 Mar 16.
Article in English | MEDLINE | ID: mdl-26751997

ABSTRACT

Although the application of nanotechnologies to atherosclerosis remains a young field, novel strategies are needed to address this public health issue. In this context, the magnetic resonance imaging (MRI) approach has been gradually investigated in order to enable image-guided treatments. In this contribution, we report a new approach based on nucleoside-lipids allowing the synthesis of solid lipid nanoparticles (SLN) loaded with iron oxide particles and therapeutic agents. The insertion of nucleoside-lipids allows the formation of stable SLNs loaded with prostacycline (PGI2) able to inhibit platelet aggregation. The new SLNs feature better relaxivity properties in comparison to the clinically used contrast agent Feridex, indicating that SLNs are suitable for image-guided therapy.


Subject(s)
Atherosclerosis/therapy , Epoprostenol/therapeutic use , Lipids/chemistry , Magnetic Resonance Imaging/methods , Nanoparticles , Epoprostenol/administration & dosage
6.
J Chromatogr A ; 1383: 121-6, 2015 Feb 27.
Article in English | MEDLINE | ID: mdl-25638266

ABSTRACT

HILIC/CAD techniques were used in analysis of samples containing fatty acids. Amine base column appeared to be the more retentive stationary phase compared to zwitterionic and BEH silica. The retention decreased with pH mobile phases changing from 3 to 5. Acetonitrile and acetone organic modifier were compared. Acetone gave higher eluotropic strength and better peak symmetry whereas acetonitrile led to higher efficiency. The retention decreased when ammonium acetate concentration increased from 5 to 20mM. The use of sub-2µm column did not show flat Van Deemter curves at high flow rates. A rapid separation of PGI2 and its main degradation product, 6-keto prostaglandin F1α was obtained in 1.6min with a Hypersil GOLD, 50mm×2.1mm, 1.9µm with; acetonitrile/acetate ammonium pH 5 at 20mM (85/15; v/v at 0.7ml/min).


Subject(s)
Aerosols/chemistry , Alprostadil/analogs & derivatives , Chemistry Techniques, Analytical/instrumentation , Chromatography, Affinity , Epoprostenol/analysis , Fatty Acids/chemistry , Alprostadil/analysis , Alprostadil/isolation & purification , Epoprostenol/isolation & purification , Hydrogen-Ion Concentration , Hydrophobic and Hydrophilic Interactions , Kinetics
7.
J Chromatogr A ; 1380: 104-11, 2015 Feb 06.
Article in English | MEDLINE | ID: mdl-25582487

ABSTRACT

Green analytical chemistry method was developed for pravastatin, fluvastatin and atorvastatin analysis. HPLC/DAD method using ethanol-based mobile phase with octadecyl-grafted silica with various grafting and related-column parameters such as particle sizes, core-shell and monolith was studied. Retention, efficiency and detector linearity were optimized. Even for column with particle size under 2 µm, the benefit of keeping efficiency within a large range of flow rate was not obtained with ethanol based mobile phase compared to acetonitrile one. Therefore the strategy to shorten analysis by increasing the flow rate induced decrease of efficiency with ethanol based mobile phase. An ODS-AQ YMC column, 50 mm × 4.6 mm, 3 µm was selected which showed the best compromise between analysis time, statin separation, and efficiency. HPLC conditions were at 1 mL/min, ethanol/formic acid (pH 2.5, 25 mM) (50:50, v/v) and thermostated at 40°C. To reduce solvent consumption for sample preparation, 0.5mg/mL concentration of each statin was found the highest which respected detector linearity. These conditions were validated for each statin for content determination in high concentrated hydro-alcoholic solutions. Solubility higher than 100mg/mL was found for pravastatin and fluvastatin, whereas for atorvastatin calcium salt the maximum concentration was 2mg/mL for hydro-alcoholic binary mixtures between 35% and 55% of ethanol in water. Using atorvastatin instead of its calcium salt, solubility was improved. Highly concentrated solution of statins offered potential fluid for per Buccal Per-Mucous(®) administration with the advantages of rapid and easy passage of drugs.


Subject(s)
Green Chemistry Technology , Hydroxymethylglutaryl-CoA Reductase Inhibitors/analysis , Acetonitriles , Atorvastatin , Chromatography, High Pressure Liquid , Ethanol , Fatty Acids, Monounsaturated/analysis , Fluvastatin , Heptanoic Acids/analysis , Indoles/analysis , Pravastatin/analysis , Pyrroles/analysis , Solubility , Solvents
8.
Appl Physiol Nutr Metab ; 39(7): 745-53, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24766203

ABSTRACT

Short bowel syndrome develops when the remnant mass of functioning enterocytes following massive resections cannot support growth or maintain fluid-electrolyte balance and requires parenteral nutrition. Resection itself stimulates the intestine's inherent ability to adapt morphologically and functionally. The capacity to change is very much related to the high turnover rate of enterocytes and is mediated by several signals; these signals are mediated in large part by enteral nutrition. Early initiation of enteral feeding, close clinical monitoring, and ongoing assessment of intestinal adaptation are key to the prevention of irreversible intestinal failure. The length of the functional small bowel remnant is the most important variable affecting outcome. The major objective of intestinal rehabilitation programs is to achieve early oral nutritional autonomy while maintaining normal growth and nutrition status and minimizing total parenteral nutrition related comorbidities such as chronic progressive liver disease. Remarkable progress has been made in terms of survivability and quality of life, especially in the context of coordinated multidisciplinary programs, but much work remains to be done.


Subject(s)
Food , Nutritional Support , Short Bowel Syndrome/therapy , Child, Preschool , Humans , Infant , Infant, Newborn
9.
Can J Diet Pract Res ; 75(1): 29-34, 2014.
Article in English | MEDLINE | ID: mdl-24606957

ABSTRACT

PURPOSE: Malnutrition in hospitalized children has been reported since the late 1970s. The prevalence of acute and chronic malnutrition was examined in hospitalized patients in a general pediatric unit, and the impact and management of malnutrition were assessed. METHODS: The nutritional risk score (NRS) and nutritional status (NS) (weight, height, body mass index, and skinfold thickness) of children aged zero to 18 years were assessed upon hospital admission. Growth and energy intake were monitored every three days until discharge. RESULTS: A total of 173 children (median age three years, 88 girls) participated; 79.8% had a moderate to severe NRS and 13.3% were acutely and/or chronically malnourished. A high NRS was associated with a longer hospital stay in children older than three years (P<0.05), while a poor NS (weight for height percentile) was correlated with prolonged hospitalization in children aged three years or younger (P<0.05). Although weight did not change during hospitalization, a decrease in skinfolds was documented (n=43, P<0.05). Patients with a high NRS had lower energy intake than those not at risk. However, children with abnormal NS received 92.5% of recommended energy intake. CONCLUSIONS: This study suggests that all children admitted to hospital should have an evaluation of their NRS and NS, so that they can receive appropriate nutrition interventions provided by a multidisciplinary nutrition team.


Subject(s)
Child Nutrition Disorders/epidemiology , Cost of Illness , Malnutrition/epidemiology , Adolescent , Child , Child Nutrition Disorders/diet therapy , Child, Preschool , Female , Hospitals, University , Humans , Incidence , Infant , Infant, Newborn , Male , Malnutrition/diet therapy , Nutrition Assessment , Patient Admission , Prevalence , Prospective Studies , Quebec/epidemiology , Risk
10.
J Pediatr Gastroenterol Nutr ; 58(1): 74-80, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23969541

ABSTRACT

BACKGROUND AND AIMS: Giant cell hepatitis with autoimmune hemolytic anemia (GCH-AHA) is presumed to be an autoimmune disease, but the mechanism of liver injury is unknown. We proposed that in CGH-AHA, the humoral limb of autoimmunity is the dominant force driving progressive liver injury. METHODS: We studied 6 cases of GCH-AHA and 6 cases of autoimmune hepatitis (AIH) with early childhood onset (3 type 1 and 3 type 2). Liver biopsies were graded for portal and periportal inflammation and for giant cells. Immunohistochemistry characterized cellular inflammation and complement involvement in injury by showing C5b-9 complex in hepatocytes. RESULTS: Clinical and biochemical features at presentation were generally similar; however, the absence of autoantibodies and the presence of Coombs positivity did distinguish GCH-AHA from early-onset AIH. Liver biopsy pathology in CGH-AHA showed giant cells and little inflammation, whereas AIH showed the opposite. C5b-9 staining showed high-grade complement-mediated pan-lobular hepatocyte injury in all of the cases with GCH-AHA, whereas little C5b-9 was seen in hepatocytes in cases with AIH. Inflammation in GCH-AHA comprised mainly lobular macrophages and neutrophils, whereas portal and periportal T-cell and B-cell inflammation characterized cases with AIH. Most cases with AIH responded to therapy with prednisone and azathioprine, whereas most cases with GCH-AHA responded only to rituximab. CONCLUSIONS: Widespread complement-mediated hepatocyte injury and typical C3a and C5a complement-driven liver inflammation along with Coombs-positive hemolytic anemia in GCH-AHA provide convincing evidence that systemic B-cell autoimmunity plays a central pathologic mechanism in the disease. Our findings support B-cell-directed immunotherapy as a first-line treatment of GCH-AHA.


Subject(s)
Anemia, Hemolytic, Autoimmune/immunology , B-Lymphocytes/metabolism , Giant Cells , Hepatitis, Autoimmune/immunology , Inflammation/immunology , Liver/immunology , Anemia, Hemolytic, Autoimmune/metabolism , Anemia, Hemolytic, Autoimmune/pathology , Anemia, Hemolytic, Autoimmune/therapy , Anti-Inflammatory Agents/therapeutic use , Antibodies, Monoclonal, Murine-Derived/therapeutic use , Autoantibodies/blood , Azathioprine/therapeutic use , Biopsy , Child, Preschool , Complement C3a/metabolism , Complement C5b/metabolism , Coombs Test , Female , Hepatitis, Autoimmune/metabolism , Hepatitis, Autoimmune/pathology , Hepatitis, Autoimmune/therapy , Hepatocytes/immunology , Hepatocytes/pathology , Humans , Immunologic Factors/therapeutic use , Immunotherapy , Infant , Inflammation/metabolism , Inflammation/therapy , Leukocytes/metabolism , Liver/cytology , Liver/pathology , Male , Prednisone/therapeutic use , Rituximab
11.
Paediatr Child Health ; 18(7): 357-9, 2013 Aug.
Article in English | MEDLINE | ID: mdl-24421709

ABSTRACT

The present case report describes the clinical problems encountered over a five-month period in an infant born with jejunal atresia, extensive midgut volvulus and a microcolon. After an initial surgical resection, the patient had no remaining ileum and his ileocecal valve was also removed. The patient had 35 cm of jejunum, which was successfully lengthened to 60 cm using enteral nutrition and two bowel-lengthening procedures (serial transverse enteropathy procedures). Bouts of cholestatic liver disease, sepsis and small bowel bacterial overgrowth were vigorously treated. The patient was discharged at 5.5 months of age and is now 40 months of age. He is at the 50th percentile for both height and weight, and is developing normally. The outcome for infants with short bowel syndrome has improved significantly in the past few years due to intestinal rehabilitation programs, which integrate nutritional, surgical and pharmacological approaches tailored to individual needs.


Le présent rapport de cas décrit les problèmes cliniques observés pendant une période de cinq mois chez un nourrisson né avec une atrésie jéjunale, un volvulus étendu de l'intestin moyen et un microcôlon. Après une résection chirurgicale initiale, le patient n'avait plus d'iléon et de valve iléocæcale. Il lui restait 40 cm de jéjunum, lequel a pu être allongé à 60 cm grâce à une alimentation entérale et à deux interventions d'allongement intestinal (interventions entéropathiques transverses sérielles). Les épisodes de cholestase intrahépatique, de septicémie et de prolifération bactérienne dans l'intestin grêle ont fait l'objet d'un traitement énergique. Le patient a obtenu son congé à 5,5 mois et en a maintenant 40. Il se situe au 50e percentile sur le plan de la taille et du poids et se développe normalement. Les issues des nourrissons présentant un syndrome de l'intestin court se sont considérablement améliorées ces dernières années, grâce à des programmes de réadaptation intestinale qui intègrent des approches nutritionnelles, chirurgicales et pharmacologiques adaptées à leurs besoins.

12.
Orphanet J Rare Dis ; 5: 24, 2010 Sep 29.
Article in English | MEDLINE | ID: mdl-20920215

ABSTRACT

Familial hypocholesterolemia, namely abetalipoproteinemia, hypobetalipoproteinemia and chylomicron retention disease (CRD), are rare genetic diseases that cause malnutrition, failure to thrive, growth failure and vitamin E deficiency, as well as other complications. Recently, the gene implicated in CRD was identified. The diagnosis is often delayed because symptoms are nonspecific. Treatment and follow-up remain poorly defined.The aim of this paper is to provide guidelines for the diagnosis, treatment and follow-up of children with CRD based on a literature overview and two pediatric centers 'experience.The diagnosis is based on a history of chronic diarrhea with fat malabsorption and abnormal lipid profile. Upper endoscopy and histology reveal fat-laden enterocytes whereas vitamin E deficiency is invariably present. Creatine kinase (CK) is usually elevated and hepatic steatosis is common. Genotyping identifies the Sar1b gene mutation.Treatment should be aimed at preventing potential complications. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Failure to thrive is one of the most common initial clinical findings. Neurological and ophthalmologic complications in CRD are less severe than in other types of familial hypocholesterolemia. However, the vitamin E deficiency status plays a pivotal role in preventing neurological complications. Essential fatty acid (EFA) deficiency is especially severe early in life. Recently, increased CK levels and cardiomyopathy have been described in addition to muscular manifestations. Poor mineralization and delayed bone maturation do occur. A moderate degree of macrovesicular steatosis is common, but no cases of steatohepatitis cirrhosis. Besides a low-long chain fat diet made up uniquely of polyunsaturated fatty acids, treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Despite fat malabsorption and the absence of postprandial chylomicrons, the oral route can prevent neurological complications even though serum levels of vitamin E remain chronically low. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake. Despite a better understanding of the pathogenesis of CRD, the diagnosis and management of the disease remain a challenge for clinicians. The clinical guidelines proposed will helpfully lead to an earlier diagnosis and the prevention of complications.


Subject(s)
Chylomicrons/metabolism , Lipid Metabolism Disorders/diagnosis , Lipid Metabolism Disorders/therapy , Malabsorption Syndromes/diagnosis , Malabsorption Syndromes/therapy , Adult , Anthropometry , Child , Child, Preschool , Cohort Studies , Diarrhea/complications , Fatty Acids/metabolism , Female , Growth Disorders/complications , Humans , Infant , Lipid Metabolism Disorders/complications , Lipid Metabolism Disorders/genetics , Malabsorption Syndromes/complications , Malabsorption Syndromes/genetics , Male , Malnutrition/complications , Monomeric GTP-Binding Proteins/genetics , Monomeric GTP-Binding Proteins/metabolism , Mutation , Nervous System Diseases/complications , Vitamin E Deficiency/complications
13.
Appl Physiol Nutr Metab ; 35(3): 336-43, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20555378

ABSTRACT

Patients routinely seek physicians' guidance about diet and the relation between nutrition and the prevention and treatment of disease. However, the adequacy of nutrition instruction in undergraduate medical education is questionable. The purpose of this study was to investigate Canadian medical students' perceptions of and satisfaction with their education in nutrition. At 9 universities across Canada, a 23-item survey questionnaire was distributed in English and French to undergraduate medical students after at least 8 months of medical school. Overall, 9 of 17 universities participated in the survey, and 933 of the 3267 medical students approached completed the survey (response rate, 28.6%). Mean satisfaction with nutrition instruction received during medical school was 4.7 (+/-0.06) on a scale of 1-10, where 1 is very dissatisfied and 10 is very satisfied, and there were significant differences among schools (p < 0.0001). Students were comfortable in their ability to counsel patients regarding basic nutrition concepts and the role of nutrition in prevention of disease, but were much less comfortable discussing the role of nutrition in the treatment of disease and nutrient requirements across the lifecycle, and in identifying credible sources of nutrition information. Of the 933 respondents, 87.2% believe that their undergraduate program should dedicate more time to nutrition education. The amount of nutrition instruction correlated with student satisfaction (p < 0.0001), but varied among schools. A significant number of students are dissatisfied with the nutrition education they receive and their ability to provide relevant and appropriate nutrition counselling. This study paves the way for further discussions and development of strategies to improve nutrition education in medical schools in Canada.


Subject(s)
Nutritional Sciences/education , Perception , Schools, Medical , Students, Medical/psychology , Accreditation , Adult , Attitude of Health Personnel , Canada , Clinical Competence , Counseling , Cross-Sectional Studies , Curriculum , Education, Medical, Undergraduate , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Personal Satisfaction , Program Evaluation , Surveys and Questionnaires , Young Adult
14.
Paediatr Child Health ; 15(2): 63-4, 2010 Feb.
Article in English | MEDLINE | ID: mdl-21286292
15.
Mol Genet Metab ; 97(2): 136-42, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19285442

ABSTRACT

Lipoprotein assembly is critical for the intestinal absorption of dietary lipids and of fat-soluble vitamins. Through their inhibition of chylomicron secretion, mutations of the Sar1B gene coding for Sar1 GTPase are associated with chylomicron retention disease (CRD). The aim of this study was to describe the phenotypic expression of CRD in two clinically and genetically well characterized cohorts, and to compare their long term evolution. The study in 7 children from France (X age 11.3+/-1.7 years) and 9 from Quebec, Canada (X age 12+/-2.5 years) involved data collection from medical records for growth evaluation, neurological and ophthalmological status as well as bone density over an average follow-up period of 4.9 years for the French cohort and of 10.6 years for the Canadian one. All CRD patients presented within the first few months of life with diarrhea and failure to thrive. Severe hypocholesterolemia coupled with normal triglycerides was associated with low LDL and HDL-cholesterol, as well as with low apolipoproteins A-I and B. Varying degrees of essential fatty acid and of vitamin E deficiency were observed. The earlier diagnosis in the Canadian cohort (1.3+/-0.04 years) than in the French one (6.3+/-1.3 years) was unrelated with the severity of presenting symptoms. The fact that the disease had more impact on growth and bone density in the latter group may be related to delayed diagnosis of the disease. Vitamin E deficiency led to functional neurological and ophthalmic changes in a small number of patients but only one developed areflexia. Finally, genotype-phenotype correlation is not obvious in our cohort with CRD; even if, the Canadian subjects with the allele 409G>A had a more severe degree (P<0.001) of hypocholesterolemia than the other patients, many clinical data are inconsistent with a hypothetical genotype-phenotype correlation. This study provides new insights on the phenotypic expression of CRD over time and emphasizes the need to screen the lipid profile of infants with chronic diarrhea and failure to thrive.


Subject(s)
Chylomicrons/metabolism , Monomeric GTP-Binding Proteins/genetics , Steatorrhea/metabolism , Adolescent , Anthropometry , Bone Density , Child , Cholesterol/metabolism , Cohort Studies , Diarrhea/etiology , Diarrhea/metabolism , Eye Diseases/etiology , Eye Diseases/metabolism , Fatty Acids/metabolism , Female , Humans , Intestinal Absorption/genetics , Male , Mutation , Nervous System Diseases/etiology , Nervous System Diseases/metabolism , Steatorrhea/genetics , Vitamin E/metabolism
16.
Appl Opt ; 47(21): 3909-19, 2008 Jul 20.
Article in English | MEDLINE | ID: mdl-18641761

ABSTRACT

We evaluate the spectral quality, radiometric noise, and retrieval performance of a Fourier transform infrared spectrometer, which has been developed for recording spectrally resolved observations in a region of the spectrum which is important both for the science of Earth's climate and applications, such as the remote sensing of temperature and atmospheric gas species. This spectral region extends from 100 to 1600 cm(-1) and encompasses the two fundamental, rotation and vibration, absorption bands of water vapor. The instrument is a customized version of a Bomem AERI (Atmospheric Emitted Radiance Interferometer) spectrometer, whose spectral coverage has been extended in the far infrared with the use of uncooled pyroelectric detectors. Retrieval examples for water vapor and temperature profiles are shown, which also allow us to intercompare the retrieval performance of both H(2)O vibration and rotation bands.

17.
Mol Genet Metab ; 93(1): 74-84, 2008 Jan.
Article in English | MEDLINE | ID: mdl-17945526

ABSTRACT

Anderson disease (and/or chylomicron retention disease-CMRD) is a rare, autosomic recessive disorder characterized by chronic diarrhea, failure to thrive, and hypocholesterolemia in childhood. The specific molecular defect was identified in 2003 and consists of mutations in the SAR1B gene which encodes for intracellular Sar1b protein. To date, only 8 mutations in six families have been described. We report here 15 new cases of CMRD among 8 families from France and Canada. We identified three unique homozygous mutations of SAR1B gene in French families originated from Turkey, Algeria and Portugal: a stop codon in exon 6 (c.364G>T, p.Glu122X), a whole deletion of exon 2 (c. 1-4482_58+1406 del 5946 ins15bp) and a missense mutation in exon 7 (c.554G>T, p.Gly185Val). The 2 missense mutations found in the 5 French-Canadian families had already been described in the eight previously published mutations: c.409G>A (p.Asp137Asn) and c.537T>A (p.Ser179Arg). In an attempt to explain the functional impairment of mutated proteins, computational analysis and sequence alignment were performed. The nonsense mutation and the whole deletion of exon 2 produced truncated proteins, the missense mutations probably non-functional proteins. All the affected children presented with similar phenotype at onset; the absence of phenotype-genotype correlation was discussed. A determination of the specific mutation in Anderson disease or CMRD is required to ensure diagnosis and allow prompt therapeutic intervention in these children.


Subject(s)
Chylomicrons/metabolism , Fabry Disease/genetics , Monomeric GTP-Binding Proteins/genetics , Mutation , Amino Acid Sequence , Base Sequence , Child , Child, Preschool , DNA Mutational Analysis , Fabry Disease/blood , Female , Humans , Infant , Infant, Newborn , Lipids/blood , Male , Models, Molecular , Molecular Sequence Data , Monomeric GTP-Binding Proteins/chemistry , Monomeric GTP-Binding Proteins/physiology , Protein Conformation , Sequence Homology, Amino Acid , Structure-Activity Relationship
19.
Med Sci (Paris) ; 23(11): 1014-9, 2007 Nov.
Article in French | MEDLINE | ID: mdl-18021718

ABSTRACT

The small bowel has traditionally been considered a simple organ for the transport of food-stuffs. Although the function of nutrient delivery is vital, the digestive and absorptive phases of fat were poorly understood until the past two decades. Moreover, the small bowel was not thought to have any modulating transport properties nor a role in the genesis of chronic diseases such as atherosclerosis. Given its enormous capacity to transform nutrients and to synthesize atherogenic proteins and gastro-intestinal peptides, the intestinal epithelium plays a key role in a number of metabolic pathways. The aim of the brief review is to provide an update on recent advances in our understanding of the absorption of dietary lipids with emphasis on the role and contribution of key proteins to malabsorptive syndromes as well as hyperlipidemic syndromes and eventually to atherosclerosis.


Subject(s)
Digestion/physiology , Gastrointestinal Transit/physiology , Intestinal Absorption/physiology , Lipids/physiology , Humans
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