We studied the effect of vine water status on the dimethyl sulfur potential (DMSP), ammonium, and amino acid contents of the berry during the maturation of Grenache Noir grapes. Water deficit ...increased the accumulation of amino acids in berries and favored yeast assimilable amino nitrogen. Similarly, ammonium content was higher in berries from vines subjected to moderate water deficit. DMSP content followed the same trend as yeast assimilable amino acid content, with higher concentrations observed in the berries of vines subjected to water deficit. The high DMSP and yeast assimilable nitrogen contents of musts from vines subjected to water deficit resulted in a better preservation of DMSP during winemaking. The wines produced from these musts had a higher DMSP level and would therefore probably have a higher aroma shelf life, because the DMSP determines the rate of release of dimethyl sulfur during wine storage, and this compound enhances fruity notes.
CBL missense mutations have recently been associated with juvenile myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic neoplasm of early childhood characterised by ...excessive macrophage/monocyte proliferation. CBL, an E3 ubiquitin ligase and a multi-adaptor protein, controls proliferative signalling networks by downregulating the growth factor receptor signalling cascades in various cell types.
CBL mutations were screened in 65 patients with JMML. A homozygous mutation of CBL was found in leukaemic cells of 4/65 (6%) patients. In all cases, copy neutral loss of heterozygosity of the 11q23 chromosomal region, encompassing the CBL locus, was demonstrated. Three of these four patients displayed additional features suggestive of an underlying developmental condition. A heterozygous germline CBL p.Y371H substitution was found in each of them and was inherited from the father in one patient. The germline mutation represents the first hit, with somatic loss of heterozygosity being the second hit positively selected in JMML cells. The three patients display a variable combination of dysmorphic features, hyperpigmented skin lesions and microcephaly that enable a 'CBL syndrome' to be tentatively delineated. Learning difficulties and postnatal growth retardation may be part of the phenotype.
A report of germline mutations of CBL in three patients with JMML is presented here, confirming the existence of an unreported inheritable condition associated with a predisposition to JMML.
To better delineate the natural history of patients with methylmalonic aciduria (MMA).
Thirty patients with vitamin-B
12-unresponsive MMA (25 aged 1.5 to 22.0
years (y) at the end of the study and 5 ...who died during a metabolic crisis) were managed following standardized guidelines and studied retrospectively. The median follow-up was 8.3
y (range: 1.4–19.5). Patients were investigated with neuropsychological testing, brain MRIs, inulin clearances, biochemical and genetic studies.
Fifteen patients had a neonatal onset. Thirteen patients (43%) had significant neurological impairment. Chronic renal disease (CRD) occurred in 14 patients (47%) with a median age of onset of 6.5
y (range 1.5–18.6). Renal function further deteriorated in 4 patients within a median period of 5.8
y (range 2–7.4). Of 25 patients investigated at the enzymatic level, 17 were classified mut°, 3 mut- and 5 cblA. Mortality, number of acute decompensations (
p
=
0.031), median MMA urinary excretion (
p
=
0.006) and neurological impairment (
p
<
0.0001) were higher in mut° patients compared to mut-/cblA patients. Concerning the CRD, no difference incidence was found although the onset of CRD occurred earlier in mut° patients and was more severe.
Our study provides unique data concerning the progression of renal disease in MMA. Patients with mut° phenotype have a more severe phenotype and probably an earlier and more severe CRD than patients with mut-/cblA phenotype.
Cystinuria is a heterogeneous, rare but important cause of inherited kidney stone disease due to mutations in 2 genes: SLC3A1 and SLC7A9. Antenatal hyperechoic colon (HEC) has been reported in some ...patients as a non‐pathological consequence of the intestinal transport defect. We report 83 patients affected by cystinuria: 44 presented prenatally with a HEC (HEC group) and 39 with a classical postnatal form (CC group). SLC3A1 and SLC7A9 were sequenced. All patients were fully genotyped, and the relationship between the genotype and clinical features was analyzed. We identified mutations in SLC3A1 in 80% of the HEC group and in only 49% of the CC group. The SLC3A1 p.Thr216Met mutation was found in 21% of the alleles in the HEC group but was never found in the CC group. Most of the mutations found in the HEC group were considered severe mutations in contrast with the CC group. Twenty‐five novel mutations were reported. This study shows a relationship between genotype and the clinical form of cystinuria, suggesting that only the patients with the most severe mutations presented with an HEC. These results emphasized the need for prenatal cystinuria screening using classical third‐trimester ultrasound scan and the early management of suspected newborns.
Le but de l'étude est d'évaluer les qualités psychométriques de la traduction française du
Coping with Children's Negative Emotions Scale -
CCNES
(
Fabes, Eisenberg, & Bernzweig, 1990
). L'instrument ...présente 12 situations hypothétiques décrivant un enfant qui exprime une émotion négative. Pour chacune de ces situations, six réactions parentales sont proposées : exprimer de la détresse, punir le comportement, minimiser l'importance de l'émotion, encourager l'expression de l'émotion, réconforter et rechercher des solutions. Le parent doit indiquer (sur une échelle en 7 points) la probabilité qu'il réagisse selon chacune des réactions décrites. Au total, 220 mères et 154 pères ayant un enfant d'âge préscolaire ont rempli le
CCNES
-vf. Les mesures de cohérence interne, de stabilité temporelle et de validité de convergence indiquent que les qualités psychométriques du
CCNES
-vf sont satisfaisantes et comparables à celles de l'instrument original.
The purpose of this study was to measure the validity/reliability of a French version of the
Coping with Children's Negative Emotions Scale -
CCNES
(
Fabes, Eisenberg, & Bernzweig, 1990
). Parents (220 mothers, 154 fathers) of preschool-age children (
M
= 54 months; 111 girls, 109 boys) were presented with 12 situations in which children are likely to experience negative affects. For each situation, parents were asked to indicate how likely they would be to react in each of six alternative fashions (distress; punitive; encourage expression of emotion; comforting; problem-focused; and minimizing responses). Reliability (internal consistency, temporal stability) and validity findings indicate that
CCNES
-vf is a valid instrument to assess parental emotion-related reactions.
Our paper reports on the reactivities and orientations of two common phenols, phenol (2) and m-cresol (3), and some of their chlorinated intermediates with aqueous monochloramine, NH2Cl, and ...dichloramine, NHCl2. We also examined the further reactivity of 2,4,6-trichlorophenol (4) with the chloramines. The phenols are an important area of investigation because they are substituents in the humic acids and are common contaminants in water. m-Cresol (3) was found to be more reactive than phenol (2) with both chlorinating agents. Both NH2Cl and NHCl2 were sufficiently reactive to chlorinate all positions ortho and para to the hydroxyl groups. Mono- and dichloramine showed the same orientation with 2 but different orientations in their reactions with the substituent phenols. Indophenol (as its salt) was formed to a minor extent at high pH but not at pH 9. Both NH2Cl and NHCl2 rapidly replaced the para-chlorine in 2,4,6-trichlorophenol (4) to give a mixture of 2,6-dichloro-1,4-benzoquinone-4-(N-chloro) imine (5) and 2,6-dichloro-1,4-benzoquinone (18). Similar reactions occur with 2,4,6-trichloro-m-cresol (17) and 2,4,6-trichloro-3-methoxyphenol (29). The products for 17 were confirmed by mass spectrometry (EI and CI), 1H NMR, 13C NMR, and IR; the products for 29 were confirmed by mass spectrometry (EI and CI) and IR. An ion radical mechanism is suggested to account for the chlorine replacement by the chloramines. No side chain oxidation of the methyl group in 17 in H2O or ether occurred, with or without ultraviolet radiation. Both 5 and 18 underwent further chlorination with NH2Cl or NHCl2. Imine 5 did not function as a chlorinated agent.
The assessment of the postoperative outcome following laparoscopic sacrocolpopexy using anterior and posterior mesh.
In the study were included one hundred and ten women (mean age 62 years with range ...from 34 to 78) who had laparoscopic sarcoplexy the period 2001-2005. They were contacted and completed postal questionnaires more than one year after surgery and had a follow up in the uro-gynaecology clinic.
The median follow up was 21 months. Eighty-three of them (75.4%) answered the postal questionnaire. Good satisfaction was defined as complete disappearance of all genito-urinary symptoms. Moderate satisfaction was defined as a partial disappearance of symptoms, or de novo less annoying symptoms. Dissatisfaction was defined as no change in symptoms, and /or de novo important symptoms. The overall rate of good satisfaction was 74.7% (62/83), moderate satisfaction 15.6% (13/83), and only 9.6% (8/83) were not satisfied. There was no statistical difference among the six different groups (sacrocolpopexy only, plus TVT, plus TVT and hysterectomy, sacrocolpopexy and previous hysterectomy, sacrocolpopexy and TVT with previous hysterectomy), concerning the pre and post operative clinical signs and post operative symptoms. There was a statistically significant difference (p=0.038) regarding dissatisfaction and prolapse relapse between the group that had a previous total hysterectomy combining sacrocolpopexy with TVT and all other groups. The most frequent post operative symptoms were stress incontinence, dysuria and constipation. No severe complications and mesh erosion were observed, despite the two cases of mesh detachment.
Laparoscopic double synthetic mesh sacrocolpopexy seems to be a safe and effective treatment of genitourinary prolapse, with good overall long term outcomes and benefits of the minimal access approach. The presence of the remaining cervix after subtotal hysterectomy, seems to enhance the results of laparoscopic sacrocolpopexy.. Further randomised studies are needed to confirm our results and to compare this method to open and/or vaginal approach.
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