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Over the past three decades, significant efforts have been focused on unraveling congenital intestinal disorders that disrupt the absorption of dietary lipids and fat-soluble vitamins. The primary goal has been to gain deeper insights into intra-enterocyte sites, molecular steps, and crucial proteins/regulatory pathways involved, while simultaneously identifying novel therapeutic targets and diagnostic tools. This research not only delves into specific and rare malabsorptive conditions, such as chylomicron retention disease (CRD), but also contributes to our understanding of normal physiology through the utilization of cutting-edge cellular and animal models alongside advanced research methodologies. This review elucidates how modern techniques have facilitated the decoding of CRD gene defects, the identification of dysfunctional cellular processes, disease regulatory mechanisms, and the essential role of coat protein complex II-coated vesicles and cargo receptors in chylomicron trafficking and endoplasmic reticulum (ER) exit sites. Moreover, experimental approaches have shed light on the multifaceted functions of SAR1B GTPase, wherein loss-of-function mutations not only predispose individuals to CRD but also exacerbate oxidative stress, inflammation, and ER stress, potentially contributing to clinical complications associated with CRD. In addition to dissecting the primary disease pathology, genetically modified animal models have emerged as invaluable assets in exploring various ancillary aspects, including responses to environmental challenges such as dietary alterations, gender-specific disparities in disease onset and progression, and embryonic lethality or developmental abnormalities. In summary, this comprehensive review provides an in-depth and contemporary analysis of CRD, offering a meticulous examination of the CRD current landscape by synthesizing the latest research findings and advancements in the field. [ABSTRACT FROM AUTHOR]

Increasing evidence indicates that fruits contain functional bio-active compounds that have several preventive and therapeutic health benefits. Our group has recently conducted studies to assess the potential effects of cranberry polyphenolic fractions on intestinal Caco-2/15 epithelial cells and a substantial reduction in oxidative stress and inflammation was observed. The aim of the present work was to determine the polyphenolic species most likely responsible for the observed biological activity. Low, medium, and high molecular weight cranberry fractions were generated witha Sephadex LH-20 column by elution with 60% MeOH, 100% MeOH, and 70% acetone, respectively. The total phenolic content in these fractions was determined by the Folin-Ciocalteu method.Acombinationof LC-MS and MALDI-TOF methods were used tocharacterize the natureofpolyphenolic compounds in the cranberry extracts. High resolution mass spectrometry was used to generate empirical formulae for the detected species. The low molecular weight fraction was essentially constituted of small phenolic acids (hydroxycinnamic and hydroxybenzoic acids). The medium fraction was mostly composed of anthocyanin, flavonols (quercetin, myricetin, isorhamnetin, kaempferol), procyanidins monomers (epicatechin, catechin), dimers, and few small oligomers. The heavy fraction was devoid of phenolic acids and anthocyanins, and it contained for the most part oligomers and polymers of procyanidins. Proanthocyanidins oligomers up to n = 22 were detected, which is, to our knowledge, the largest individual polymers reported to date. With this approach, it was also possible to distinguish between the A-type and B-type linkages. Key words: polyphenols, mass spectrometry, cranberry. De plus en plus de donnees probantes indiquent que les fruits contiennent des composes bioactifs fonctionnels qui presentent plusieurs bienfaits therapeutiques et preventifs. Notre groupe a recemment mene des etudes afin d'evaluer les effets possibles des fractions phenoliques de la canneberge sur les cellules epitheliales Caco-2/15 de l'intestin, dans lesquelles une reduction substantielle du stress oxydatif et de l'inflammation a ete observee. L'objectif des presents travaux etait de determiner les especes polyphenoliques les plus susceptibles d'etre a l'origine de l'activite biologique observee. Nous avons genere a partir d'un extrait de canneberge des fractions de poids moleculaire faible, moyen et eleve a l'aide d'une colonne Sephadex LH-20 par elution avec une solution a 60 % de MeOH, du MeOH a 100 % et une solution a 70 % d'acetone, respectivement. Nous en avons determine la teneur en composes phenoliques totaux par la methode de Folin-Ciocalteu. Nous avons employe conjointement les methodes LC-MS et MALDI-TOF pour caracteriser la nature des composes polyphenoliques presents dans les extraits de canneberge. Nous avons fait appel a la spectrometrie de masse a haute resolution pour generer les formules empiriques des especes que nous avons detectees. La fraction de faible poids moleculaire etait essentiellement constituee d'acides phenoliques de petite taille (acides hydoxycinnamiques et hydroxybenzoiques). La fraction de poids moleculaire moyen etait principalement composee d'anthocyanes, de flavonols (quercetine, myricetine, isorhamnetine, kaempferol) et de monomeres (epicatechine, catechine) et dimeres procyanidiques, ainsi que de quelques petits oligomeres. La fraction de poids moleculaire eleve etait depourvue d'acides phenoliques et d'anthocyanes. Elle contenait en majeure partie des oligomeres et des polymeres procyanidiques. Nous avons detecte des oligomeres de proanthocyanidines de taille allant jusqu'a n = 22, ce qui represente, a notre connaissance, les plus grandes chaines de ces polymeres detectees individuellement a ce jour. Grace a cette approche, il etait egalement possible de distinguer les liaisons de type A de celles de type B. [Traduit par la Redaction] Mots-cles : polyphenols, spectrometrie de masse, canneberge., Introduction An increasing body of evidence classifies numerous fruits as bio-active nutrients with several preventive and therapeutic health benefits (.1-3) Among them, cranberries have recently received particular attention as a [...]

Children with acute lymphoblastic leukemia (ALL) are at high risk of developing long-term cardiometabolic complications during their survivorship. Maximal fat oxidation (MFO) is a marker during exercise of cardiometabolic health, and is associated with metabolic risk factors. Our aim was to characterize the carbohydrate and fat oxidation during exercise in childhood ALL survivors. Indirect calorimetry was measured in 250 childhood ALL survivors to quantify substrate oxidation rates during a cardiopulmonary exercise test. A best-fit third-order polynomial curve was computed for fat oxidation rate (mg/min) against exercise intensity (% V ̇ O2peak) and was used to determine the MFO and the peak fat oxidation (Fatmax). The crossover point was also identified. Differences between prognostic risk groups were assessed (ie, standard risk [SR], high risk with and without cardio-protective agent dexrazoxane [HR + DEX and HR]). MFO, Fatmax and crossover point were not different between the groups (p =.078; p =.765; p =.726). Fatmax and crossover point were achieved at low exercise intensities. A higher MFO was achieved by men in the SR group (287.8 ± 111.2 mg/min) compared to those in HR + DEX (239.8 ± 97.0 mg/min) and HR groups (229.3 ± 98.9 mg/min) (p =.04). Childhood ALL survivors have low fat oxidation during exercise and oxidize carbohydrates at low exercise intensities, independently of the cumulative doses of doxorubicin they received. These findings alert clinicians on the long-term impact of cancer treatments on childhood ALL survivors' substrate oxidation. [ABSTRACT FROM AUTHOR]