Planned delivery route of preterm breech singletons, and neonatal and 2-year outcomes: a population-based cohort study.

OBJECTIVE: To assess whether planned route of delivery is associated with perinatal and 2-year outcomes for preterm breech singletons. DESIGN: Prospective nationwide population-based EPIPAGE-2 cohort study. SETTING: France, 2011. SAMPLE: Three hundred and ninety women with breech singletons born at 26-34 weeks of gestation after preterm labour or preterm prelabour rupture of membranes. METHODS: Propensity-score analysis. MAIN OUTCOME MEASURES: Survival at discharge, survival at discharge without severe morbidity, and survival at 2 years of corrected age without neurosensory impairment. RESULTS: Vaginal and caesarean deliveries were planned in 143 and 247 women, respectively. Neonates with planned vaginal delivery and planned caesarean delivery did not differ in survival (93.0 versus 95.7%, P = 0.14), survival at discharge without severe morbidity (90.4 versus 89.9%, P = 0.85), or survival at 2 years without neurosensory impairment (86.6 versus 91.6%, P = 0.11). After applying propensity scores and assigning inverse probability of treatment weighting, as compared with planned vaginal delivery, planned caesarean delivery was not associated with improved survival (odds ratio, OR 1.31; 95% confidence interval, 95% CI 0.67-2.59), survival without severe morbidity (OR 0.75, 95% CI 0.45-1.27), or survival at 2 years without neurosensory impairment (OR 1.04, 95% CI 0.60-1.80). Results were similar after matching on propensity score. CONCLUSIONS: No association between planned caesarean delivery and improved outcomes for preterm breech singletons born at 26-34 weeks of gestation after preterm labour or preterm prelabour rupture of membranes was found. The route of delivery should be discussed with women, balancing neonatal outcomes with the higher risks of maternal morbidity associated with caesarean section performed at low gestational age.

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

OBJECTIVE: To validate and evaluate the performance metrics of the high-throughput semiconductor sequencing platform, Ion Proton®, in non-invasive prenatal genetic screening (NIPS) for common fetal aneuploidies in a clinical setting. METHODS: This prospective cohort study included 2505 pregnant women from eight academic genetics laboratories (695 high risk for trisomy 21 (risk ≥ 1/250) pregnancies in a validation study, and 1810 such pregnancies, without ultrasound anomalies, in a real-life NIPS clinical setting). Outcome was available for all cases in the validation cohort and for 521 in the clinical cohort. Cell-free DNA from plasma samples was sequenced using the Ion Proton sequencer, and sequencing data were analyzed using the open-access software, WISECONDOR. Performance metrics for detection of trisomies 21, 18 and 13 were calculated based on either fetal karyotype result or clinical data collected at birth. We also evaluated the failure rate and compared three methods of fetal fraction quantification (RASSF1A assay, and DEFRAG and SANEFALCON software). RESULTS: Results from both cohorts were consistent and their gestational age was not significantly different so their data were combined to increase the sample size for analysis. Sensitivities and specificities, respectively, were as follows: for trisomy 21, 98.3% (95% CI, 93.5-99.7%) and 99.9% (95% CI, 99.4-100%); for trisomy 18, 96.7% (95% CI, 80.9-99.8%) and 100% (95% CI, 99.6-100%); and for trisomy 13, 94.1% (95% CI, 69.2-99.7%) and 100% (95% CI, 99.6-100%). Our failure rate was 1.2% initially and as low as 0.6% after retesting some of the failed samples. Fetal fraction estimation by the RASSF1A assay was consistent with DEFRAG results, and both were adequate for routine diagnosis. CONCLUSIONS: We describe one of the largest studies evaluating Ion Proton-based NIPS and the first clinical study reporting pregnancy outcome in a large series of patients. This platform is highly efficient in detecting the three most common trisomies. Our protocol is robust and can be implemented easily in any medical genetics laboratory. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Alcohol use and self-perceived mental health status among pregnant and breastfeeding women in Canada: a secondary data analysis.

OBJECTIVE: To estimate the prevalence of alcohol consumption during pregnancy and while breastfeeding in Canada from 2003 to 2010, and to test the relation between self-perceived mental health status and alcohol consumption during pregnancy and while breastfeeding. DESIGN: Secondary analysis of four cycles of the Canadian Community Health Survey, a population-based cross-sectional survey. SETTING: Canada. SAMPLE: A total of 18 612 pregnant and 15 836 breastfeeding women. METHODS: The prevalence of alcohol consumption during pregnancy and while breastfeeding and 95% confidence intervals (CI) were calculated by province and territory, and cycle. The relation between self-perceived mental health status and alcohol consumption during pregnancy and while breastfeeding was explored using quasi-Poisson regression models. MAIN OUTCOME MEASURES: Alcohol consumption during pregnancy and while breastfeeding, and self-perceived mental health status. RESULTS: In Canada, between 2003 and 2010, approximately one in every ten pregnant women (9.9%; 95%CI 9.2-10.5%) and two in every ten breastfeeding women (20.3%; 95%CI 19.4-21.2%) women consumed alcohol. Women with a lower self-perceived mental health status (i.e. 'good') were 1.40 (95%CI 1.18-1.67, P < 0.001) times more likely to have consumed alcohol during pregnancy, compared with women with an 'excellent' self-perceived mental health. There were no notable differences between the categories of mental health status in regard to alcohol consumption while breastfeeding. CONCLUSION: Despite public health efforts in Canada, a significant proportion of pregnant and breastfeeding women consume alcohol. It is imperative that a standard screening protocol be initiated among pregnant and breastfeeding women, especially in high-risk populations (e.g. women utilising substance abuse treatment programs). TWEETABLE ABSTRACT: In Canada in 2003-2010, approximately 10% of pregnant and 20% of breastfeeding women consumed alcohol.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large-scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large-scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late-onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly-inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1-related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing.

Everolimus- and sirolimus-eluting stents in patients with and without ST-segment elevation myocardial infarction.

AIMS: Everolimus-eluting stents (EES) were superior to sirolimus-eluting stents (SES) in a dedicated myocardial infarction trial, a finding that was not observed in trials with low percentages of ST-elevation myocardial infarction (STEMI). Therefore, this study sought to investigate the influence of clinical presentation on outcome after EES and SES implantation. METHODS: A pooled population of 1602 randomised patients was formed from XAMI (acute MI trial) and APPENDIX-AMI (all-comer trial). Primary outcome was cardiac mortality, MI and target vessel revascularisation at 2 years. Secondary endpoints included definite/probable stent thrombosis (ST). Adjustment was done using Cox regression. RESULTS: In total, 902 EES and 700 SES patients were included, of which 44 % STEMI patients (EES 455; SES 257) and 56 % without STEMI (EES 447; SES 443). In the pooled population, EES and SES showed similar outcomes during follow-up. Moreover, no differences in the endpoints were observed after stratification according to presentation. Although a trend toward reduced early definite/probable ST was observed in EES compared with SES in STEMI patients, long-term ST rates were low and comparable. CONCLUSIONS: EES and SES showed a similar outcome during 2-year follow-up, regardless of clinical presentation. Long-term safety was excellent for both devices, despite wide inclusion criteria and a large sub-population of STEMI patients.

Antidepressive effect of mirtazapine in post-myocardial infarction depression is associated with soluble TNF-R1 increase: data from the MIND-IT.

BACKGROUND: Depressive disorder after myocardial infarction (MI) is associated with increased cardiac morbidity and mortality. Immune activity such as inflammation might be implicated as an underlying mechanism. The purpose of this study is to investigate whether the response to an antidepressant in post-MI depression is associated with changes of inflammatory markers in serum. METHODS: In a double-blind placebo-controlled study with mirtazapine 30 mg/day (50 patients), the antidepressive effect was related to immune activation parameters. The cytokines interleukin 6 (IL-6) and tumor necrosis factor α (TNF-α), the soluble cytokine receptors sIL-6R, sTNF-R1 and sTNF-R2, and the inflammation-sensitive plasma proteins C-reactive protein and neopterin were assessed. RESULTS: Subgroup analyses revealed a highly significant correlation of pronounced sTNF-R1 increase with a decrease in depressive symptoms in antidepressant responders. CONCLUSION: Significant effects on inflammation accompany the therapeutic efficacy of mirtazapine in contrast to the therapeutic efficacy of placebo and the nontherapeutic efficacy of mirtazapine.

Evolution of a patient with Bohring-Opitz syndrome.

We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring-Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, "puffy" cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal-alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch. We focused on her neurological and nutritional evolution. Despite the gastrostomy and a Nissen fundoplication at age 7 months, she still had developmental growth delays overall (<3rd centile). At 3 years 9 months of age, she began to put on weight quickly, which seemed to be atypical. Meanwhile she developed epilepsy, which was controlled with specific drugs. Currently, she is 5 years 9 months old and has significant psychomotor retardation, although this disease is often fatal in early childhood, due to obstructive apnea and unexplained bradycardia.

[Is the bronchial atresia prenatal diagnosis possible?]. / Le diagnostic anténatal d'atrésie bronchique est-il possible ?

Bronchial atresia is a rare congenital malformation of the lung. The main-stem segmental or lobar bronchus fails to construct normally, which can lead to accumulation of mucus within the distal bronchi or lung hyperinflation of the obstructed lobe. The prenatal diagnosis is rare and difficult. We report two cases of fetuses who presented pathological examination of the lung on the ultrasonography, at 22 weeks of gestation, suspect of prenatal bronchial atresia diagnosis. We analysed this malformation through a literature review in order to discuss differential diagnosis to be evoked, as well as appropriate perinatal management.

[Value of multidetector-row computed tomography for infantile renovascular hypertension: report of two cases]. / Apport de la tomodensitométrie multicoupe dans l'hypertension rénovasculaire du nourrisson: à propos de deux cas.

The work-up of renovascular hypertension (10% of children hypertension cases) benefits from multiple imaging modalities. These two cases show the difficulties encountered with infant and underscore "the major role" of the computed tomography angiography within for diagnosis and management. Indeed CTA allows reproducible studies of abdominal vessels at the expense of radiation exposure.

Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays.

Brachydactyly, or shortening of the digits, is due to the abnormal development of phalanges, metacarpals and/or metatarsals. This congenital malformation is common, easily detectable clinically but often requires additional radiological exploration. Radiographs are essential to characterize the type of brachydactyly and to show the location of the bone shortening, as well as any associated malformation. This article reviews the radiological findings for isolated brachydactylies (according to the types classified by Bell, and Temtamy and McKusick) and for brachydactylies that are part of complex multisystem malformation syndromes. If warranted by the clinical and radiological examinations, a genetic analysis (molecular and/or cytogenetic) can confirm the etiologic diagnosis.

Comparison of effects on peak oxygen consumption, quality of life, and neurohormones of felodipine and enalapril in patients with congestive heart failure.

Angiotensin-converting enzyme (ACE) inhibition is currently the cornerstone of congestive heart failure (CHF) therapy, but these drugs are not tolerated in up to 20% of patients. For these patients, therapeutic alternatives with comparable efficacy are needed. Felodipine, a vasoselective dihydropyridine calcium antagonist with a slow onset of action and a long plasma half-life, may be such an agent. Therefore, the efficacy and safety of felodipine were examined and compared with enalapril using a double-blind design. We studied 46 patients with a left ventricular ejection fraction < 0.40, peak oxygen consumption < 20 ml.min-1.kg-1, and symptoms of CHF despite therapy with diuretics and digoxin. After 16 weeks of therapy, there were no statistically significant differences in peak oxygen consumption (felodipine +1.6, enalapril +2.5 ml.min-1.kg-1) and exercise tolerance (felodipine +61 seconds, enalapril +64 seconds). Quality-of-life parameters were affected slightly better by felodipine than by enalapril. Plasma norepinephrine decreased by 143 pg.ml-1 with enalapril and by 12 pg.ml-1 with felodipine (p < 0.20 between groups). Both drugs were generally well tolerated. These data suggest that felodipine and enalapril have comparable effects on exercise parameters in patients with CHF. Neurohumoral activation was not observed with either drug.

Limitations of ultrasonography for diagnosing white matter damage in preterm infants.

OBJECTIVES: To compare the accuracy of ultrasonography (US) and magnetic resonance imaging (MRI) in diagnosing white matter abnormalities in preterm infants and to determine the specific indications for MRI. DESIGN: Prospective cohort study. SETTING: A neonatal intensive care unit in France. PATIENTS: All preterm infants (

Renal venous thrombosis: an unusual cause of fetal distress.

Renal venous thrombosis (RVT) is a rare event in neonates and infants. Its incidence varies from 0.5 per thousand concerning admissions in neonatal intensive care units to 0.5% in autopsic findings. Some cases may occur in the antenatal period. Clinical presentation in infants includes a mass in the flank. hematuria and thrombocytopenia. We report a case of RVT which was diagnosed at 34 weeks' gestation by ultrasound in a fetus showing cardiotocographic signs of fetal distress. We observed the typical pattern reported by pediatric radiologists: renal enlargement, loss of the cortico-medullary boundary, echoic streaks following the direction of interlobular veins, lack of definition of renal sinus echoes and loss of venous flow in the right kidney by Doppler velocimetry. After delivery by caesarean section and transient hyperbilirubinemia and moderately impaired renal function the infant weighing 2435 g had a full recovery at 1 week and a normal evolution at 1 month of life.

[Vertical deviation in strabismus in children]. / Les déviations verticales dans les strabismes infantiles.

Cyclovertical deviations represent a major diagnostic and therapeutic problem in strabology. In this paper 4 topics are discussed. Long term evolution of strabismus after surgery shows that the patient's residual threshold for a residual vertical factor is very weak; its correction is of the utmost importance. Indeed, if some degree of binocular vision is to be recovered, the residual vertical factor should not be greater than 4 D in esotropia. There are many different varieties of vertical deviation but 3 are particularly common: oblique muscles overactions, DVD and alphabetical syndromes. There are several arguments against sagittalization during oblique muscles development. The author then presents an epidemiological survey of vertical factors based on a randomized study of 1500 consecutive cases of strabismus. In the last section, the problem of vertical factors in accommodative strabismus is discussed; there are many arguments against Gobin and Berard's ideas on the role and management of optical correction in accommodative squint.

[Electro-oculographie study of vergence movements. II. Asymmetric vergence (author's transl)]. / Etude électro-oculographique des mouvements de vergence. II - La vergence asymétrique.

In relation to symmetrical vergence, a study of asymmetrical vergence reveals, in normal cases, particular kinetic phenomena of the most marked degree. In binocular fixation, Johannes Müller's phenomenon is noticed on the axial eye. It exhibits reflex competition between fast and slow vergence, and is always impaired in amblyopias. Monocular fixation with the centered open eye induces a pure and slow consensual vergence on the excentric occluded eye. The movement is mainly be accommodative in nature, and anomalies are shown to very frequent. Monocular fixation with the excentric open eye induces a relative vergence characterized by a fast version phase, limited and corrected by a slow vergence phase. Relative vergence is largely impaired in amblyopias, convergence deficiencies, functional squints and oculo-motor palsies. Generally, the different methods for investigating kinetic vergence patterns reveal a more or less physiological asymmetry in sensori motor potentialities of each eye. This asymmetry strongly increases in nearly all oculo-motor disorders.

[Electro-oculographic study of vergence movements (author's transl)]. / Etude électro-oculographique des mouvements de vergence. Première partie: la vergence symétrique.

The study of vergence movements imperatively needs a recording method. Nowadays, in spite of its various drawbacks, electro-oculography is the most accurate method for clinical wants. The authors have studied the refixation vergence along a symmetrical inducing axis. With regard to both eyes in binocular and monocular fixations the analysis of a great lot of recordings in normal patients allows to reveal some phenomena unknown till now. In binocular fixation it is usual to notice a physiologic dyssynergy of vergence movements. The monocular fixations bear out evidence that Hering's Law doesn't apply to vergence movements. On the contrary they are submitted to a complete opto-motor dissociation, because the motor responses fully change according to the modalities of inducing visual inputs. In others respects, the analysis of all recordings proves that a vergence movement is made up with two synkinetic phases: a slow phase which was known for a long time thanks to physiological laboratory works; but also a fast phase having a saccadic feature. The fast vergence is related with a monocular visual attraction reflex and it is not bound only to the macular function.

[Medial rectus stretching test in recurrent esotropia]. / Le test d'élongation musculaire du droit interne dans les ésotropies récidivantes.

In oculomotor surgery, evaluation of muscle elongation is necessary before deciding on the operative plan. This is particularly important in recurrent esotropia where the motor problem is highly complex because of visco-elastic alterations caused by previous surgery. The study of a series of 132 cases of recurrent esotropia shows that weakening of the medial rectus almost always causes reduced muscle elongation, the extent of which is directly proportional to the amount of recession.

[Current epidemiology of strabismic amblyopia in France]. / Epidémiologie actuelle de l'amblyopie strabique en France.

It is well known that good early management of squint prevents the appearance of functional amblyopia and, when it exists, allows a cure in more than 90% of cases. The authors report a series of 1 552 esotropias. Statistical analysis reveals that the present epidemiologic state of functional amblyopia is dismal. 47% of cases have an amblyopia in spite of 64.6% of children being previously treated. The mean age is 7 years 6 months. The therapeutic results after a 6 months range still shows 38% of poorly applied treatment, but 57% of well-managed patients recover normal visual acuity. The long range results (average 33 months) show that in 47% of cases the treatment was badly applied. On the contrary, 70% of patients having good management were successful. Two main reasons explain such a situation : firstly the lack of information and casualness of parents; and on the other hand faltering and unsuitable medical technics. The only real answer to such a problem is early medical management of every squint. According to the author's experience it seems that such a state is not a special feature of amblyopia epidemiology in the western part of France, but it is observed in the same way in many countries having high level medical care.

[Statistical study of the basic angle and intensity of spasm in functional esotropia (surgical consequences)]. / Etude statistique de l'angle de base et de l'intensité du spasme dans les ésotropies fonctionnelles (conséquences chirurgicales).

In esotropia surgery all statistical results give the correlation between the amount of the operative correction and the angle of deviation; but this last entity is without value, because a consistent deviation nearly ever exists in spite of protracted medical management; indeed it is usual to notice large spatial variations. In a prospective series of 122 cases the authors have carefully studied the basic angle, the amount of angular variations which give evidence of the strength of spasm, the deep narcosis angle and the muscle elongation test. The various statistical correlations are analyzed. It appears that the basic angle and the strength of spasm are two essential connected but distinct characteristics of innervational imbalance, and it is necessary to carefully evaluate each one. There exists a highly significant correlation between the degree of innervational troubles and the frequency of visco-elastic impairments. The authors make several statements about medical management, early surgery and one-step surgery. They give new guidelines for their operative plan with the Faden operation.

[Surgical treatment of optical nystagmus (author's transl)]. / Le traitement chirurgical des nystagmus optiques.

Effective management improves the sensory-motor state of most optical nystagmus cases. Treatment is always medical and sometimes surgical. Previous complete sensory and motor examinations are necessary. A surgical cure is warranted by the extent of nystagmus, a torticollis, or when a squint is associated. The authors review the various clinical aspects, and their operative plan, which is simple in Kestenbaum's, more delicate in dissociated forms, convergence blockages and nystagmic squints. It is often very difficult in complex nystagmic impairments.