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Article ; Online: Congenital disorders of intestinal digestion and absorption (sugars, proteins, lipids, ions).

Peretti, Noel / Mas, Emmanuel

Best practice & research. Clinical gastroenterology

2022 Volume 56-57, Page(s) 101785

Abstract: Congenital diarrhea may result from 2 main different mechanisms: 1) osmotic diarrhea is caused by the non-digestion-absorption of nutrients leading to the non-absorbed nutrients going into the lumen, increasing the osmotic force and driving fluids; 2) ... ...

Abstract	Congenital diarrhea may result from 2 main different mechanisms: 1) osmotic diarrhea is caused by the non-digestion-absorption of nutrients leading to the non-absorbed nutrients going into the lumen, increasing the osmotic force and driving fluids; 2) secretory diarrhea induced by the inhibition of intestinal absorption of electrolytes, increasing electrolyte and water flux towards the intestinal lumen. The malabsorption of macronutrients (carbohydrates, proteins and lipids) induces energy deficiency with symptoms depending on the macronutrient: carbohydrates with watery acidic diarrhea; protein with rapid malnutrition, edema, and hypoalbuminemia; and lipids with malnutrition, steatorrhea and hypocholesterolemia. Ionic malabsorption (Cl and Na) is responsible for severe and rapid dehydration sometimes with prenatal abnormalities (polyhydramnios and bowel dilatation).
MeSH term(s)	Digestion/physiology ; Female ; Humans ; Intestines ; Ions ; Lipids ; Pregnancy ; Sugars
Chemical Substances	Ions ; Lipids ; Sugars
Language	English
Publishing date	2022-02-05
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2048181-0
ISSN	1532-1916 ; 1521-6918
ISSN (online)	1532-1916
ISSN	1521-6918
DOI	10.1016/j.bpg.2022.101785
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Article ; Online: New Classification and Management of Abetalipoproteinemia and Related Disorders.

Bredefeld, Cindy / Peretti, Noel / Hussain, M Mahmood

Gastroenterology

2020 Volume 160, Issue 6, Page(s) 1912–1916

MeSH term(s)	Abetalipoproteinemia/classification ; Abetalipoproteinemia/diagnosis ; Apolipoprotein B-100/genetics ; Female ; Humans ; Hyperlipidemia, Familial Combined/diagnosis ; Hypobetalipoproteinemia, Familial, Apolipoprotein B/classification ; Hypobetalipoproteinemia, Familial, Apolipoprotein B/diagnosis ; Hypobetalipoproteinemias/classification ; Hypobetalipoproteinemias/diagnosis ; Hypobetalipoproteinemias/genetics ; Hypobetalipoproteinemias/therapy ; Malabsorption Syndromes/diagnosis ; Pregnancy ; Pregnancy Complications/etiology
Chemical Substances	APOB protein, human ; Apolipoprotein B-100
Language	English
Publishing date	2020-12-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	80112-4
ISSN	1528-0012 ; 0016-5085
ISSN (online)	1528-0012
ISSN	0016-5085
DOI	10.1053/j.gastro.2020.11.040
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Article ; Online: Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.

Peretti, Noel / Vimont, Alexandre / Mas, Emmanuel / Lemale, Julie / Reynaud, Rachel / Tounian, Patrick / Poinsot, Pierre / Restier, Liora / Paillard, François / Pradignac, Alain / Pucheu, Yann / Rabès, Jean-Pierre / Bruckert, Eric / Gallo, Antonio / Béliard, Sophie

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

2024 Volume 31, Issue 3, Page(s) 188–194

Abstract: Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein ... ...

Abstract	Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking. Objective: Here, we describe treatment patterns and LDL-C goal attainment in pediatric HeFH using longitudinal real-world data. Methods: This was a retrospective and prospective multicenter cohort study (2015-2021) of children with HeFH, diagnosed genetically or clinically, aged <18 years, and followed up in the National French Registry of FH (REFERCHOL). Data on the study population as well as treatment patterns and outcomes are summarized as mean±SD. Results: We analyzed the data of 674 HeFH children (age at last visit: 13.1 ± 3.6 years; 82.0 % ≥10 years; 52.5 % females) who were followed up for a mean of 2.8 ± 3.5 years. Initiation of lipid-lowering therapy was on average at 11.8 ± 3.0 years of age for a duration of 2.5 ± 2.8 years. At the last visit, among patients eligible for treatment (573), 36 % were not treated, 57.1 % received statins alone, 6.4 % statins with ezetimibe, and 0.2 % ezetimibe alone. LDL-C was 266±51 mg/dL before treatment and 147±54 mg/dL at the last visit (-44.7 %) in treated patients. Regarding statins, 3.3 %, 65.1 %, and 31.6 % of patients received high-, moderate-, and low-intensity statins, respectively. Overall, 59 % of children on statin therapy alone and 35.1 % on bitherapy did not achieve the LDL-C goal; fewer patients in the older age group did not reach the treatment goal. Conclusion: Pediatric patients with FH followed up in specialist lipid clinics in France receive late treatment, undertreatment, or suboptimal treatment and half of them do not reach the therapeutic LDL-C goal. Finding a more efficient framework for linking scientific evidence to clinical practice is needed.
MeSH term(s)	Adolescent ; Child ; Female ; Humans ; Male ; Anticholesteremic Agents/therapeutic use ; Cholesterol, LDL/therapeutic use ; Cohort Studies ; Ezetimibe/therapeutic use ; Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use ; Hypercholesterolemia ; Hyperlipoproteinemia Type II/drug therapy ; Hyperlipoproteinemia Type II/epidemiology ; Prospective Studies ; Retrospective Studies
Chemical Substances	Anticholesteremic Agents ; Cholesterol, LDL ; Ezetimibe (EOR26LQQ24) ; Hydroxymethylglutaryl-CoA Reductase Inhibitors
Language	English
Publishing date	2024-03-27
Publishing country	France
Document type	Multicenter Study ; Journal Article
ZDB-ID	1181947-9
ISSN	1769-664X ; 0929-693X
ISSN (online)	1769-664X
ISSN	0929-693X
DOI	10.1016/j.arcped.2024.01.004
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Article ; Online: The emerging connections between IGF1, the intestinal microbiome,

Poinsot, Pierre / Schwarzer, Martin / Peretti, Noël / Leulier, François

Journal of molecular endocrinology

2018 Volume 61, Issue 1, Page(s) T103–T113

Abstract: In most animal species, postnatal growth is controlled by conserved insulin/insulin-like growth factor (IGF) signaling. In mammals, juvenile growth is characterized by a longitudinal bone growth resulting from the ossification of the growth plate. This ... ...

Abstract	In most animal species, postnatal growth is controlled by conserved insulin/insulin-like growth factor (IGF) signaling. In mammals, juvenile growth is characterized by a longitudinal bone growth resulting from the ossification of the growth plate. This ossification is under IGF1 influence through endocrine and paracrine mechanisms. Moreover, the nutritional status has been largely described as an important factor influencing the insulin/insulin-like growth factor signaling. It is now well established that the gut microbiota modulates the nutrient availability of its host. Hence, studies of the interaction between nutritional status, gut microbiota and bone growth have recently emerged. Here, we review recent findings using experimental models about the impact of gut bacteria on the somatotropic axis and its consequence on the bone growth. We also discuss the perspectives of these studies in opening an entire field for clinical interventions.
MeSH term(s)	Animals ; Gastrointestinal Microbiome/physiology ; Humans ; Insulin-Like Growth Factor I/metabolism ; Intercellular Signaling Peptides and Proteins/metabolism ; Lactobacillus/metabolism
Chemical Substances	Intercellular Signaling Peptides and Proteins ; Insulin-Like Growth Factor I (67763-96-6)
Language	English
Publishing date	2018-05-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	645012-x
ISSN	1479-6813 ; 0952-5041
ISSN (online)	1479-6813
ISSN	0952-5041
DOI	10.1530/JME-17-0292
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Zs.A 2406: Show issues

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Article ; Online: Undernourished patients do not have increased risk of severe COVID-19 outcomes.

Fneich, Ahmad / Poinsot, Pierre / Elias, Christelle / Restier, Lioara / Vanhems, Philippe / Wallet, Florent / Caussy, Cyrielle / Duclos, Antoine / Peretti, Noël

Clinical nutrition open science

2022 Volume 44, Page(s) 9–14

Abstract: Background: Undernutrition has been previously identified as a deleterious factor in acute infections. In covid-19 infection, obesity is a risk-factor of severe evolution, but initial undernutrition has not been evaluated yet.: Methods: We ... ...

Abstract	Background: Undernutrition has been previously identified as a deleterious factor in acute infections. In covid-19 infection, obesity is a risk-factor of severe evolution, but initial undernutrition has not been evaluated yet. Methods: We retrospectively analyzed correlation between nutritional status at admission and severe outcomes (intensive care unit admission, invasive mechanical ventilation requirement and death) of patients hospitalized for confirmed covid-19 infection. Results: Risk of intensive care unit admission and invasive mechanical ventilation requirement was not significantly different between undernutrition and normoweight sub-groups, but increased in excessive weight sub-group (ODDR (IC 95%) 1.048 (1.011-1.086), p = 0.011). Risk of death was the same in all sub-groups. Conclusion: Undernutrition didn't appear as a factor of severe outcomes in covid-19 infection.
Language	English
Publishing date	2022-03-31
Publishing country	United States
Document type	Journal Article
ISSN	2667-2685
ISSN (online)	2667-2685
DOI	10.1016/j.nutos.2022.03.002
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Article ; Online: Therapeutic Approach of Very Early-Onset Inflammatory Bowel Disease in a Loeys-Dietz Syndrome Child.

Opréa, Alina / Collardeau-Frachon, Sophie / Heissat, Sophie / Peretti, Noel / Lachaux, Alain / Duclaux-Loras, Rémi

JPGN reports

2021 Volume 3, Issue 1, Page(s) e139

Abstract: Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for ...

Abstract	Heterozygous TGFBR2 loss-of-function mutation is an extremely rare cause of very-early onset inflammatory bowel disease (VEOIBD) as, so far, only three cases have been reported in the literature. VEOIBD therapeutic management remains a real challenge for clinicians. Here, we described an interesting new case of Loeys-Dietz syndrome presenting severe, very early intestinal inflammation associated with dysmorphic features, aortic arch tortuosity joint hyper laxity and severe scoliosis. TGFBR2 Sanger sequencing revealed a missense mutation c.1583G>A (p.Arg528His). As endoscopy confirmed a severe colitis, we chose a classical IBD therapeutic approach. We finally obtained remission under Ustekinumab (90 mg/6 weeks).
Language	English
Publishing date	2021-12-10
Publishing country	United States
Document type	Case Reports
ISSN	2691-171X
ISSN (online)	2691-171X
DOI	10.1097/PG9.0000000000000139
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Article ; Online: Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Bordat, Claire / Vairo, Donato / Cuerq, Charlotte / Halimi, Charlotte / Peiretti, Franck / Penhoat, Armelle / Vieille-Marchiset, Aurélie / Gonzalez, Teresa / Michalski, Marie-Caroline / Nowicki, Marion / Peretti, Noël / Reboul, Emmanuelle

Nutrients

2023 Volume 15, Issue 3

Abstract: Abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3) are rare recessive disorders of lipoprotein metabolism due to mutations ... ...

Abstract	Abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3) are rare recessive disorders of lipoprotein metabolism due to mutations in
MeSH term(s)	Humans ; alpha-Tocopherol ; Apolipoproteins B/genetics ; Caco-2 Cells ; Enterocytes/metabolism ; Hypobetalipoproteinemias/genetics ; Hypobetalipoproteinemias/metabolism ; Monomeric GTP-Binding Proteins/metabolism ; Vitamin E/pharmacology
Chemical Substances	alpha-Tocopherol (H4N855PNZ1) ; Apolipoproteins B ; Monomeric GTP-Binding Proteins (EC 3.6.5.2) ; SAR1B protein, human (EC 3.6.1.-) ; Vitamin E (1406-18-4)
Language	English
Publishing date	2023-01-18
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15030505
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Article ; Online: Closure of residual fistula after esophageal atresia repair in a 5-year-old using endoscopic submucosal dissection of surrounding mucosa.

Lavaud, Grégoire / Heissat, Sophie / Chauveau, Auxane / Peretti, Noël / Lachaux, Alain / Oung, Borathchakra / Pioche, Mathieu

Endoscopy

2020 Volume 53, Issue 4, Page(s) E132–E133

MeSH term(s)	Child, Preschool ; Endoscopic Mucosal Resection/adverse effects ; Esophageal Atresia/surgery ; Esophageal Neoplasms ; Humans ; Mucous Membrane ; Tracheoesophageal Fistula/etiology ; Tracheoesophageal Fistula/surgery
Language	English
Publishing date	2020-08-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	80120-3
ISSN	1438-8812 ; 0013-726X
ISSN (online)	1438-8812
ISSN	0013-726X
DOI	10.1055/a-1216-0271
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Article: Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Bordat, Claire / Cuerq, Charlotte / Halimi, Charlotte / Vairo, Donato / Blond, Emilie / Restier, Liora / Poinsot, Pierre / Duclaux-Loras, Rémi / Peretti, Noël / Reboul, Emmanuelle

Journal of clinical lipidology

2023 Volume 18, Issue 1, Page(s) e105–e115

Abstract: Background: Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal ... ...

Abstract	Background: Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health. Objective: Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia. Methods: We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects. Results: In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from -89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects. Conclusion: Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment.
MeSH term(s)	Humans ; Caco-2 Cells ; Zeaxanthins/metabolism ; Hypobetalipoproteinemias/genetics ; Carotenoids/metabolism ; Vitamins ; Lipids ; Monomeric GTP-Binding Proteins/genetics ; Syndactyly
Chemical Substances	Zeaxanthins ; Carotenoids (36-88-4) ; Vitamins ; Lipids ; SAR1B protein, human (EC 3.6.1.-) ; Monomeric GTP-Binding Proteins (EC 3.6.5.2)
Language	English
Publishing date	2023-11-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	2365061-8
ISSN	1876-4789 ; 1933-2874
ISSN (online)	1876-4789
ISSN	1933-2874
DOI	10.1016/j.jacl.2023.10.010
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Article ; Online: Comparison of α-Tocopherol, α-Tocopherol Acetate, and α-Tocopheryl Polyethylene Glycol Succinate 1000 Absorption by Caco-2 TC7 Intestinal Cells.

Cuerq, Charlotte / Bordat, Claire / Halimi, Charlotte / Blond, Emilie / Nowicki, Marion / Peretti, Noël / Reboul, Emmanuelle

Nutrients

2020 Volume 13, Issue 1

Abstract: 1) Background: vitamin E is often supplemented in the form of tocopherol acetate, but it has poor bioavailability and can fail to correct blood tocopherol concentrations in some patients with severe cholestasis. In this context, α-tocopheryl ... ...

Abstract	(1) Background: vitamin E is often supplemented in the form of tocopherol acetate, but it has poor bioavailability and can fail to correct blood tocopherol concentrations in some patients with severe cholestasis. In this context, α-tocopheryl polyethylene glycol succinate 1000 (TPGS) has been of value, but very little is known about the mechanisms of its absorption. The aim of our work was to evaluate the mechanisms of absorption/secretion of TPGS compared to tocopherol acetate (TAC) and α-tocopherol by human enterocyte-like Caco-2 TC7 cells. (2) Methods: two weeks post-confluence Caco-2 cells were incubated with tocopherol- or TAC- or TPGS-rich mixed micelles up to 24 h and, following lipid extraction, TAC and tocopherol amounts were measured by high performance liquid chromatography (HPLC) in apical, cellular, and basolateral compartments. (3) Results: at equivalent concentrations of tocopherol in the apical side, the amounts of tocopherol secreted at the basolateral pole of Caco-2 cells are (i) significantly greater when the tocopherol is in the free form in the micelles; (ii) intermediate when it is in the TAC form in the micelles (
MeSH term(s)	Biological Availability ; Caco-2 Cells ; Dietary Supplements ; Humans ; Intestinal Absorption ; Intestinal Mucosa/cytology ; Intestinal Mucosa/metabolism ; Micelles ; Vitamin E/pharmacokinetics ; alpha-Tocopherol/pharmacokinetics
Chemical Substances	Micelles ; Vitamin E (1406-18-4) ; alpha-Tocopherol (H4N855PNZ1) ; tocophersolan (O03S90U1F2)
Language	English
Publishing date	2020-12-31
Publishing country	Switzerland
Document type	Comparative Study ; Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu13010129
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