Prévention au premier trimestre de la grossesse : perspective des professionnels.

INTRODUCTION: The environment and living conditions of parents during the "first 1000 days" period influence the short- and long-term health trajectories of children. Professionals following pregnancies play an important role in advising future parents to adopt health-promoting behaviors. It appeared necessary to describe the prevention messages transmitted by professionals early in pregnancy. OBJECTIVES: To identify the prevention messages systematically delivered during the first trimester of pregnancy and determine the degree of priority that professionals (midwives, obstetricians, general practitioners) of Bourgogne-Franche-Comté give to them. RESULTS: Prevention messages on infectious risk were addressed by 96.5% of respondents, and those on risk behaviors and addictions by 93.7%. Dietary balance and sports activities (78.5%), as well as risks in the daily life (47.1%) were less delivered. The messages that professionals declared to be delivered systematically to pregnant women during the first trimester were generally those that they considered to be priorities. There were some differences depending on the professional. Regarding information media, the majority of respondents did not use any. They agreed on the importance of a paper-based information medium and wished to be able to rely on a digital medium (62.6%). CONCLUSION: The co-construction of support that meets the needs of both women and professionals and that is validated by health authorities would contribute to better consideration and promotion of health-promoting behaviors by parents, by promoting empowerment of women and couples from the beginning of pregnancy.

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.

Down syndrome (DS) is a genetic neurodevelopmental disorder. In individuals with DS, a multidisciplinary approach to care is required to prevent multiple medical complications. The aim of this study was to describe the rehabilitation, medical care, and educational and social support provided to school-aged French DS patients with varying neuropsychological profiles. A mixed study was conducted. Quantitative data were obtained from a French multicentre study that included patients aged 4-20 years with diverse genetic syndromes. Qualitative data were collected by semi-structured face-to-face interviews and focus groups. Ninety-five DS subjects with a mean age of 10.9 years were included. Sixty-six per cent had a moderate intellectual disability (ID) and 18.9% had a severe ID. Medical supervision was generally multidisciplinary but access to medical specialists was often difficult. In terms of education, 94% of children under the age of six were in typical classes. After the age of 15, 75% were in medico-social institutions. Analysis of multidisciplinary rehabilitation conducted in the public and private sectors revealed failure to access physiotherapy, psychomotor therapy and occupational therapy, but not speech therapy. The main barrier encountered by patients was the difficulty accessing appropriate facilities due to a lack of space and long waiting lists. In conclusion, children and adolescents with DS generally received appropriate care. Though the management of children with DS has been improved considerably, access to health facilities remains inadequate.

Low Renal Oxygen Saturation at Near-Infrared Spectroscopy on the First Day of Life Is Associated with Developing Acute Kidney Injury in Very Preterm Infants.

BACKGROUND: Acute kidney injury (AKI) is a frequent complication in preterm infants, and the identification of early markers of renal hypoperfusion is a chief challenge in neonatal intensive care units. OBJECTIVES: To describe the association between early markers of cardiovascular function and renal perfusion with AKI occurrence in a cohort of preterm infants < 32 weeks' gestation. METHODS: 128 infants were prospectively included from birth to discharge. During the first day of life, we assessed cardiovascular function, systemic and organ blood flow by Doppler ultrasound, and monitored cerebral and renal regional oxygen saturation (rSO2) using near-infrared spectroscopy (NIRS). These measures were analyzed in relation to developing AKI and serum creatinine (SCr) peak from day 2 to 7 of life. RESULTS: 12 of 128 infants presented with AKI (9.4%). SCr peak was 155.3 ± 30.2 µmol/L in infants with AKI versus 82.0 ± 16.5 in non-AKI infants (p < 0.001). Among all measures of cardiovascular function and renal perfusion, low mean cerebral and renal rSO2 during the first day of life and a low resistive index at renal artery Doppler were significantly associated with developing AKI. After adjustment for possible confounding factors, low renal rSO2 on the first day of life remained associated with a high SCr peak from day 2 to 7 of life. CONCLUSION: Low renal rSO2 values during the first day of life correlate with developing AKI in preterm infants < 32 weeks' gestation. NIRS monitoring of renal function during adaptation seems promising, and its very early use after birth to detect kidney hemodynamic dysfunction deserves further investigations.

Sperm imprinting integrity in seminoma patients?

BACKGROUND: Testicular germ cell tumor such as seminoma is strongly associated with male reproductive problems commonly associated with the alteration of sperm parameters as described in testicular dysgenesis syndrome. Interestingly, numerous studies have reported that the precursor of germ cell cancer, germ cell neoplasia in situ (GCNIS), present similarities to fetal gonocytes, specifically characterized by global DNA hypomethylation particularly on imprinting sequences. These disorders may have a common origin derived from perturbations of embryonal programming during fetal development. Presently, there is no available information concerning the sperm DNA methylation patterns of testicular cancer patients. For the first time, we evaluated the sperm imprinting of seminoma patients. A total of 92 cryopreserved sperm samples were included, 31 before seminoma treatment (S): 23 normozoospermic (SN) and 8 oligozoospermic (SO) and 61 sperm controls samples: 31 normozoospermic (N) and 30 oligozoospermic (O). DNA methylation levels of seven differentially methylated regions (DMRs) of imprinted genes [H19/IGF2: IG-DMR (CTCF3 and CTCF6 of H19 gene); IGF2-DMRs (DMR0 and DMR2); MEG3/DLK1:IG-DMR; SNURF:TSS-DMR; KCNQ1OT1:TSS-DMR] were assessed by pyrosequencing. All comparative analyses were adjusted for age. RESULTS: Comparisons of sperm DNA methylation levels between seminoma (S) and normozoospermic (N) samples showed a significant difference for the SNURF sequence (p = 0.017), but after taking into account the sperm parameters, no difference was observed. However, we confirmed a significant association between oligozoospermia (O) and imprinting defects for H19/IGF2-CTCF6 (p = 0.001), MEG3/DLK1 (p = 0.017), IGF2-DMR2 (p = 0.022), and SNURF (p = 0.032) in comparison with control groups (N). CONCLUSIONS: This study highlights the high risk of sperm imprinting defects in cases of oligozoospermia and shows for the first time that seminoma patients with normal spermatogenesis present sperm imprinting integrity. These data suggest a low probability of the involvement of a common imprinting defect in fetal cells leading to both TGCT and subfertility.

Low Plasma Protein Levels at Birth Are Associated with Poor Cardiovascular Adaptation and Serious Adverse Outcome in Infants with Gestational Age <32 Weeks: The ProHémie Study.

BACKGROUND: Retrospective studies suggest that early hypoproteinemia has prognostic value for adverse outcome in preemies, but the underlying pathophysiology is unknown. We hypothesized that the prognostic relevance of hypoproteinemia could be related to its association with impaired cardiovascular function and organ perfusion during transition. OBJECTIVES: To describe the plasma protein status and the measures of cardiovascular function according to the outcome in infants <32 weeks' gestation. METHODS: One hundred and twenty-eight infants were prospectively included from birth to discharge. During the first 24 h of life, we assessed the cardiovascular function and systemic and organ blood flow by Doppler ultrasound, and monitored cerebral and renal regional oxygen saturation (cRSO2, rRSO2) using near-infrared spectroscopy. These measures were analyzed in relationship to hypoproteinemia (total plasma protein level <40 g/L at 12 h of life) and severe adverse outcome (death or survival with severe neurological injury). RESULTS: Hypoproteinemia was associated with a higher risk of a severe adverse outcome after adjustment of confounding variables (adjusted OR = 6.8; 95% CI 1.3-34). Compared to normoproteinemic infants and after adjustment for gestational age, hypoproteinemic ones had more significantly: hypotension (7 vs. 13%, p = 0.03), abnormal capillary refilling time (20 vs. 36%, p < 0.001), abnormal renal blood flow (resistive index 0.78 ± 0.11 vs. 0.85 ± 0.09, p = 0.04), lower rRSO2 (82.9 ± 9.2 vs. 73.6 ± 10.5%, p = 0.04), and lower systemic vascular resistance (0.155 ± 0.058 vs. 0.108 ± 0.037 mm Hg/L/kg; p = 0.04). The cRSO2 patterns were significantly decreased in infants with severe adverse outcome and independent from protein status. CONCLUSION: Hypoproteinemia is associated with impaired cardiovascular function. Further studies are required to elucidate the interplay between changes in protein levels, postnatal hemodynamics and clinical outcome.

Relationships of Macular Pigment Optical Density With Plasma Lutein, Zeaxanthin, and Diet in an Elderly Population: The Montrachet Study.

PURPOSE: To investigate the association of macular pigment optical density (MPOD) with plasma lutein, zeaxanthin, and diet in an elderly population. METHODS: We conducted a population-based study, the Montrachet (Maculopathy Optic Nerve, nuTRition neurovAsCular, and HEarT disease) study, in subjects older than 75 years. The MPOD was measured by means of the two-wavelength autofluorescence technique. Plasma lutein and zeaxanthin were measured in fasting blood samples using HPLC. Food frequency consumption was assessed with self-reported food frequency questionnaires. RESULTS: Overall, 433 healthy participants (62.1% females) were included. Mean age was 82.0 ± 3.6 years. Mean MPOD at 0.5° eccentricity was 0.57 ± 0.25 density units (DU) and was higher in women than in men (0.59 ± 0.25 vs. 0.53 ± 0.25, P = 0.017). The MPOD was lower in alcohol consumers than in non-alcohol consumers (0.55 ± 0.25 vs. 0.61 ± 0.25, P = 0.016). Median plasma lutein and zeaxanthin levels were 281.4 µg/L and 20.0 µg/L, respectively, and were higher in women (P = 0.010 and P = 0.003, respectively). The MPOD was positively correlated with plasma lutein and zeaxanthin (r = 0.10, P = 0.030 and r = 0.11, P = 0.027, respectively). A higher consumption of squash was associated with higher plasma lutein and zeaxanthin. Adjusting for confounders and diet revealed that MPOD was weakly associated with plasma lutein in nonsmokers (ß = 0.11, P = 0.021). CONCLUSIONS: This study suggests that plasma lutein is associated with MPOD after taking into account potential confounding factors in an elderly population.

The Montrachet Study: study design, methodology and analysis of visual acuity and refractive errors in an elderly population.

PURPOSE: To describe the design of the Montrachet Study (Maculopathy Optic Nerve nuTRition neurovAsCular and HEarT diseases) and to report visual acuity and refractive errors in this elderly population. METHODS: Participants were recruited in Dijon (France), from the ongoing population-based 3C Study. In 2009-2011, 1153 participants from the 3 Cities Study, aged 75 years or more, had an initial eye examination and were scheduled for eye examinations. The eye examination comprised visual acuity, refraction, visual field, ocular surface assessment, photographs and OCT of the macula and the optic disc, measurement of intra-ocular pressure, central corneal thickness and macular pigment assessment. Information on cardiovascular and neurologic diseases and a large comprehensive database (blood samples, genetic testing, cognitive tests, MRI) were available from the 3C Study. RESULTS: Presenting visual acuity <20/60 in the better eye was found in 2.3% (95% CI 1.5-3.2) of the participants with no gender differences. Visual impairment increased with age from 1.5% (95% CI 0.3-2.7) for those aged 75-79 years to 5.6% (95% CI 2.9-8.4) for patients 85 years and older (p = 0.0003). Spherical equivalent did not differ between men and women (p = 0.8) and decreased with age whatever the lens status. CONCLUSION: Despite the high prevalence of self-reported eye diseases in this elderly population, visual impairment was low and increased with age. The Montrachet Study may help to better estimate the prevalence of eye diseases in people over 75 years of age and to seek associations with cardiovascular and neurologic diseases and their potential risk factors.