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Copyright of Revue de Médecine Périnatale is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We report the fourth case of combined d-and L-2-hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts. [ABSTRACT FROM AUTHOR]

The most common causes of high anion gap metabolic acidosis (HAGMA) are lactic acidosis, ketoacidosis, and intoxications. Nevertheless, clinicians can be faced with unexplained HAGMA, with a need to look for less common etiologies. We describe a case of 5-oxoproline (pyroglutamate) acidosis due to chronic acetaminophen ingestion at therapeutic dose in a 79-year-old inpatient. The pathophysiology of this condition is detailed, with abnormalities in the gamma-glutamyl cycle due to acetaminophen ingestion and severe chronic morbidities, resulting in glutathione and cysteine deficiency and then accumulation of 5-oxoproline. In HAGMA, when usual causes have been excluded, 5-oxoproline acidosis should be suspected in patients with chronic morbidities and acetaminophen ingestion. This diagnosis should be kept in mind because it generally resolves quickly with cessation of acetaminophen and administration of intravenous fluids., (Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

Down syndrome maternal serum screening is largely used in France. The aim of this article is to specify and to explain the different comments applied on the reports in order to optimize the management of the patient. These comments represent the consensus of the study group of the biologist accredited for Down syndrome maternal serum screening., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Background: Trisomy 18 and Smith-Lemli-Opitz syndrome are two polymalformative conditions in which a cholesterol defect has been noted. When they occur prenatally, they are associated with a decreased maternal unconjugated estriol (uE(3)) level. Cholesterol plays an essential role in the Sonic Hedgehog pathway, allowing Shh protein maturation leading to its maximal activity. Many malformations in these two syndromes occur in Shh dependent tissues. We thus sought to assess whether a cholesterol defect could affect the Shh pathway and explain some of the observed malformations., Materials and Methods: We selected 14 cases of trisomy 18 and 3 cases of SLO in which the maternal uE(3) level was decreased and reported malformations were observed after fetopathological examination. We correlated the number of malformations with maternal uE(3) level. We then carried out cholesterol concentrations in separate culture media consisting of trisomy 18, SLO and control amniocytes. Finally, we analyzed the Shh pathway by testing the gene expression of several Shh components: GLI transcription factors, BMP2, BMP4, TGFβ1, COL1A1 and COL1A2., Results and Discussion: There was an inverse correlation between phenotypic severity and maternal uE(3) levels in SLO and trisomy 18. The cholesterol levels in the amniocyte culture media were correlated with maternal uE3 levels and were significantly lower in T18 and SLO amniocytes, reflecting cholesterol defects. There was an alteration in the Shh pathway since expression of several genes was decreased in T18 and SLO amniocytes. However, these cholesterol defects were not solely responsible for the altered Shh pathway and the malformations observed., (Copyright © 2014 Elsevier Inc. All rights reserved.)

We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II+III, and IV deficiency ranging from 60% to 95% associated with morphological and histochemical abnormalities of the muscle. An exhaustive screening of mitochondrial transfer and ribosomal RNAs showed a novel G>A substitution at nucleotide position 3090 which was detected only in urine sediment and muscle of the patient and was not found in her mother's blood cells and urine sample. We suggest that this novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, would impair mitochondrial protein synthesis and would cause a severe myopathy.

A lot of methods are now available for total plasma homocysteine (tHcy) determination. Commercial kits using immunoassay, easier to use, begin to supplant in-house laboratory methods. Our aim is to evaluate the interchangeability of tHcy measurements in 9 French hospital laboratories. Six different method types were used: 2 gas chromatography-mass spectrometry (GC-MS), 2 HPLC with fluorescence detection subdivided in one in-house method and one commercial kit (Bio-Rad ), 3 fluorescence polarization immunoassays (FPIA), 1 enzyme immunoassay, 1 amino acid analyser, 1 capillary electrophoresis coupled with laser-induced fluorescence detection (EC-LIF). Each laboratory analysed 41 patient's plasma samples in which 8 samples contained added homocystine. Results were analysed for imprecision, recovery, and methodological differences. The mean among-laboratory imprecision (CV) ranged from 12.5 to 18% in function of plasma sample type and was identical to the mean among-method variation. In terms of recovery, we obtained underestimated results with immunoassays. The bias relative to the GC-MS method was less than 12.5% except for two laboratories, one using FPIA assay and the other EC-LIF. In conclusion, the interchangeability of tHcy results between laboratories is not satisfactory and does not allow us to evaluate cardiovascular risk linked to moderate increases of tHcy.

An increase in homocysteine, a sulphur amino acid, is nowdays considered as a risk factor for cardiovascular diseases, and is independent of other risk factors. Reference range for total plasma homocysteine level in adults is usually 5-15 mmol/l. Hyperhomocysteinemia is defined as a fasting total plasma homocysteine level > 15 mmol/l. There may be also graded increased risks for subjects with homocysteinemia from 10 to 15 mmol/l. However, no threshold has been defined, partly because of the lack of standardization in pre-analytical and analytical steps. The aim of the present work was to evaluate three pre-analytical parameters on plasma homocysteine levels: i) the influence of three anticoagulants (EDTA, sodium citrate and lithium heparin); ii) the delay period of blood sample on ice before centrifugation; and iii) the advantages of strong acidic citrate at room temperature. The mean concentrations of total plasma homocysteine were different in function of the anticoagulant. These differences (EDTA minus lithium heparin or EDTA minus sodium citrate) were less than 10% however the used methods and could explain the good correlation between the results. However we recommend to keep the anticoagulant constant in the same study. When EDTA blood samples were immediately put on crushed ice, the maximum delay period before centrifugation could reach 4 hours. If ice is unavailable, strong acidic citrate at room temperature is a good alternative until for 4 hours.

The purpose of this study was to investigate and compare body image concerns, attitudes toward eating/weight control, and reasons for exercising between two groups of adolescent male athletes--football players (N = 44) and cross-country runners (N = 30). Subjects responded to surveys covering eating attitudes, weight concerns, physical traits, perceived and ideal body shape/size, and reasons for exercising. Significant differences were noted: Football players reported a more positive body image; cross-country runners indicated a greater degree of body dissatisfaction, more disordered eating patterns, and a greater degree of concern for weight control which identified this group as one in need of increased health education.

A dietary assessment of food pantry and soup kitchen users was conducted. A demographic and socioeconomic profile of participants was developed. One hundred ninety-one persons completed 30- to 40-minute interviews while in line to receive food assistance. Dietary status was determined from 24-hour recall data. Intakes of calcium, iron, thiamin, riboflavin, niacin, protein, vitamin A, and vitamin C were compared with the 1980 RDAs for age and sex. A dietary adequacy score was developed to evaluate nutrient quality by calculation of a nutrient density ratio (total intake for a nutrient divided by the RDA). A value of one was considered the norm. A score of 0.67 or less was considered an inadequate nutrient intake. Sixty-eight percent of the sample demonstrated some degree of inadequate nutrient intake. Nutrients that tended to be the lowest were calcium (76% inadequate), vitamin C (74% inadequate), and thiamin (74% inadequate). Inadequate nutrient intake was significantly associated with a lack of cooking facilities, lower monthly incomes, and lesser amounts of money spent on food. Comparison of food pantry users with soup kitchen participants indicated calcium was a problem nutrient for both groups.

Through school-sponsored health fairs, 398 adolescents (153 males and 245 females) between the ages of 14 and 18 completed a questionnaire on their compliance with six of the U.S. Dietary Guidelines. Results indicated that adolescents report highest compliance on "eat a variety of foods" and "eat foods with adequate starch and fiber." Conversely, they indicated low compliance on "reduce sugar intake" and "reduce fat, saturated fat and cholesterol intake." Sex differences were noted on two dietary guidelines. Females reported lower compliance with respect to "maintain desirable body weight." Males, on the other hand, reported lower compliance than females on "reduce salt intake." Given the fact that the dietary guidelines of "reduce fat, saturated fat and cholesterol," "maintain desirable body weight," and "reduce salt intake" are all aimed at reducing cardiovascular risk, the low compliance reported by adolescents may have long-range health implications.

A variety of food supplements were taken by 66 percent of the elderly persons in this study. Ascorbic acid and vitamin E were the most popular choices. Some supplements may have improved nutritional status, while others were probably inappropriate or unnecessary. The findings indicate that the elderly have a number of erroneous beliefs about the efficacy of food supplements. Reasons for supplementation were often inappropriate, and unreliable sources of information were used. In addition, substantial amounts of money were spent on food supplements by those already existing on a limited budget. Nutrition education is needed to demonstrate the relationship between adequate diet, good health, and appropriate versus inappropriate food supplement consumption.