Programme Hospitalier Recherche Clinique, Institut Pasteur, Inserm, French Public Health Agency.
Background The known relationship between the gestational age at maternal primary infection an the outcome of congenital CMV is based on small, retrospective studies conducted between 1980 and 2011. They reported that 32% and 15% of cases had sequelae following a maternal primary infection in the first and second or the third trimester, respectively. We aimed to revisit this relationship prospectively between 2011 and 2017, using accurate virological tools. Methods We collected data on women with a primary infection and an infected child aged at least 1 year at the time of analysis. An accurate determination of the timing of the primary infection was based upon serial measurements of immunoglobulin (Ig) M and IgG and on IgG avidity in sera collected at each trimester. The case outcome was assessed according to a structured follow-up between birth and 48 months. Results We included 255 women and their 260 fetuses/neonates. The dating of the maternal infection was prospective in 86% of cases and retrospective in 14%. At a median follow-up of 24 months, the proportion of sensorineural hearing loss and/or neurologic sequelae were 32.4% (95% confidence interval [CI] 23.72–42.09) after a maternal primary infection in the first trimester, 0 (95% CI 0–6.49) after an infection in the second trimester, and 0 (95% CI 0–11.95) after an infection in the third trimester (P < .0001). Conclusions These results suggest that a cytomegalovirus infection can be severe only when the virus hits the fetus in the embryonic or early fetal period. Recent guidelines recommend auditory follow-ups for at least 5 years for all infected children. This raises parental anxiety and generates significant costs. We suggest that auditory and specialized neurologic follow-ups may be recommended only in cases of a maternal infection in the first trimester.
Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.
Our findings confirm that despite the benefits of antenatal antibiotics, this treatment can increase the risk of antibiotic-resistant cases of LONI. National and international surveillance of LONI epidemiology is essential to assess benefits and potential negative consequences of perinatal antibiotic exposure.
IntroductIon: Very early preterm infants (VPIs) are exposed to unpredictable noise in neonatal intensive care units. Their ability to perceive moderate acoustic environmental changes has not been fully investigated. rESuLtS: Physiological values of the 598 isolated sound peaks (sPs) that were 5-10 and 10-15 dB slow-response a (dBa) above background noise levels and that occured during infants' sleep varied significantly, indicating that VPIs detect them. exposure to 10-15 dBa sPs during active sleep significantly increased mean heart rate and decreased mean respiratory rate and mean systemic and cerebral oxygen saturations relative to baseline. dIScuSSIon: VPIs are sensitive to changes in their nosocomial acoustic environment, with a minimal signal-to-noise ratio (sNR) threshold of 5-10 dBa. These acoustic changes can alter their well-being. MEtHodS: In this observational study, we evaluated their differential auditory sensitivity to sound-pressure level (sPL) increments below 70-75 dBa equivalent continuous level in their incubators. environmental (sPL and audio recording), physiological, cerebral, and behavioral data were prospectively collected over 10 h in 26 VPIs (Ga 28 (26-31) wk). sPs emerging from background noise levels were identified and newborns' arousal states at the time of sPs were determined. changes in parameters were compared over 5-s periods between baseline and the 40 s following the sPs depending on their sNR thresholds above background noise. V ery early preterm infants (VPIs) are exposed to nosocomial environmental stimuli that differ from the stimuli they encounter in utero. This new "naturalistic" milieu, especially loud noise, may interfere with their neurodevelopment and growth (1-4). This has led to specific recommendations for permissible noise criteria levels in the neonatal intensive care unit (NICU) (5-7). These recommendations were based primarily on the evaluation of the effects of noise on the developing auditory system and well-being of newborns. Most studies were experimental. Preterm newborns were exposed to 5 s of high artificial sound (8,9), including sound-pressure levels (SPLs) ranging from 80 to 100 dB (8) and to warbling tones of 100 dB (9). The most prevalent responses were an increase in heart rate (HR) (8,9) proportional to the SPL of the stimulus and a tendency toward a decrease in respiratory rate (RR) (9). Few studies have evaluated the impact of noise in the NICU on newborns' physiological stability. Unfortunately, some of these studies measured the effect of acoustic environments quite different from those in the contemporary NICU (10) or did not include preterm infants (11) or VPIs (10). Moreover, some yielded questionable results because of study design, nonreporting of background noise, and the absence of a well-defined study population (e.g., inclusion of newborns with a wide range of gestational age, GA) (12). Despite these limitations, these studies showed that a high level of environmental noise, >70-75 dB slow response A (dBA) equivalent continuous leve...
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