Publications by authors named "Houlier M"

Article Synopsis
  • A study investigated balanced chromosomal rearrangements in patients with intellectual disabilities and congenital anomalies using next-generation sequencing to identify breakpoints at a molecular level.
  • The research characterized breakpoints in 55 patients, revealing that 89% of chromosomal rearrangements were detected, with non-homologous end-joining identified as the primary repair mechanism.
  • The study found that a diagnosis could be established in about 44.8% of patients, revealing disruptions in genes and suggesting that paired-end whole genome sequencing is effective for clinical applications in structural variation analysis.
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Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis, is a rare cause of lymphadenopathy in children. This benign disease can mimic lymphoma and misleads doctors. It was first described in Asia, where it occurred especially in young women.

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Objectives: To evaluate the association between the presence of antiphospholipid (APL) antibodies and the occurrence of autism spectrum disorder (ASD) in childhood.

Methods: A prospective, monocentric case-control study from February 2012 to August 2014 comparing the APL antibodies of children with ASD (group 1) and children without ASD (group 2).

Results: Group 1 consisted of 44 children with ASD defined by clinical, genetic, metabolic, and morphological criteria.

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The most common thyroid abnormality among Down syndrome (DS) children corresponds to a mildly elevated TSH, with T4 decreased or in the normal range and thyroid hypoplasia, from the neonatal period onward, which aggravate their mental impairment. Transgenic Dyrk1A mice, obtained by bacterial artificial chromosome engineering (mBACTgDyrk1A), have 3 copies of the Dyrk1A gene. The objective is to determine whether this transgenic Dyrk1A (Dyrk1A(+/++)) mouse is an adequate murine model for the study of thyroid dysgenesis in DS.

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The aim of this work was to test the hypothesis that the trophic effect of lentil feeding on large intestine results from a stimulation of protein synthesis and to determine whether it interferes with protein metabolism in other splanchnic or peripheral organs. Two groups of growing Sprague Dawley male rats were pair-fed iso-caloric iso-nitrogenous balanced diets containing either cooked lentils (Lens esculenta puyensis) or casein as unique protein source. Protein synthesis rates were measured in vivo, in large intestine, liver and gastrocnemius at the postprandial state.

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This study was undertaken to determine whether a pulse protein feeding pattern was more efficient than a spread pattern to improve protein anabolism in young women as was already shown in elderly women. After a 15-d adaptive period [1.2 g protein/(kg fat-free mass.

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Sarcopenia could result from the inability of an older individual to recover muscle lost during catabolic periods. To test this hypothesis, we compared the capacity of 5-day-refed 12- and 24-mo-old rats to recover muscle mass lost after 10 days without food. We measured gastrocnemius and liver protein synthesis with the flooding-dose method and also measured nitrogen balance, 3-methylhistidine excretion, and the gene expression of components of proteolytic pathways in muscle comparing fed, starved, and refed rats at each age.

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Background: Adequate protein nutrition could be used to limit gradual body protein loss and improve protein anabolism in the elderly.

Objective: We tested the hypothesis that an uneven protein feeding pattern was more efficient in improving protein anabolism than was an even pattern.

Design: After a controlled period, 15 elderly women (mean age: 68 y) were fed for 14 d either a pulse diet (n = 7), providing 80% of the daily protein intake at 1200, or a spread diet (n = 8), in which the same daily protein intake was spread over 4 meals.

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Our aim was to analyze mechanisms involved in the adaptation of protein metabolism to food deprivation and refeeding in adult rats. Twelve-month-old rats, which had been food-deprived for 113 h and refed for 6 h, were injected subcutaneously with a flooding dose of valine (with 50% [1-13C]-L-valine) to measure in vivo protein synthesis in tibialis anterior, soleus and liver. Protein and RNA contents were also measured.

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This study analyses in detail the effects of ageing on gastrocnemius muscle and liver protein synthesis measured in vivo at three ages, 1.5 months (young), 12 months (adult) and 24 months (old) in Sprague-Dawley rats. Comparing adult and old rats, muscle protein synthesis was decreased in old rats when expressed per unit of RNA and per day (translational efficiency), was unchanged when expressed in absolute terms and increased when expressed in fractional terms as a result of protein loss due to muscle atrophy.

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This study was carried out to analyze age-related changes on amino acid and insulin effects on muscle and liver protein synthesis. Conscious male rats, aged 12 (adult) and 24 (old) mo, were infused for 90 min with either saline, amino acids, or amino acids with insulin and glucose. Protein synthesis was measured during the last 15 min of infusion (flooding dose of valine with L-[2,3,4-3H]valine).

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An automated method for the determination of plasma free amino groups is described. The analysis is performed on a discrete computerized analyzer after plasma deproteinization using trichloracetic acid. The method is based on the formation of a complex between terminal NH2 radicals and 2,4,6-trinitrobenzene sulfonate (TNBS).

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Kinetic aspects of threonine (Thr) metabolism were examined in growing pigs fed a well-balanced diet (C), an isocaloric protein-free diet (PF), or starved (S) for 48 h. With the use of continuous simultaneous infusion of L-[1-13C]Thr, [1-14C]sarcosine, and 2-[1-14C]ketobutyrate (KB) for 10 h, estimates were made of rates of Thr incorporated into protein (S), released from body proteins (B), and oxidized through the catabolic pathways of L-Thr 3-dehydrogenase (TDG) and threonine dehydratase (TDH). In the C group S was 185, B was 138, Thr disposal to glycine (DRThr-Gly) was 47, and Thr disposal to KB (DRThr-KB) was 7 mumol.

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The fractional contributions (FC) of threonine to glycine and 2-ketobutyrate (KB) fluxes in fed pigs have been assessed by the constant infusion of L-[1-13C]-threonine. The analysis of the enantiomeric purity of labeled threonine by gas chromatography/mass spectrometric (GC/MS) analysis is reported as the N-TFA isopropyl ester derivative. The commercially available [1-13C]threonine comprised 98.

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Three preruminant calves were fitted with catheters in portal and hepatic veins and in a mesenteric artery. Two electromagnetic flowmeter probes were clipped around the portal vein and the hepatic artery. The calves were fed either a diet with a low (L) or a high (R) abomasal emptying rate for dietary proteins.

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A study was made on protein metabolism and hormonal changes following birth in newborn lambs fed amino acids alone or in combination with lactose. Eight newborn lambs taken from their mother immediately after birth were fed hourly for 8 h, either with a solution of peptides and free amino acids obtained by mild hydrolysis of whey proteins (4 lambs; diet AP) or with the same solution + lactose (4 lambs; diet APL). L-[4,5-3H] leucine was continuously perfused into a jugular vein for 6 h when the lambs were 2 h 30 min old.

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The present work was carried out to evaluate the kinetic parameters of glucagon in growing rats divided into three groups: T, H and E. Group T (Control group) was fed a control diet (crude protein: 11.8%).

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