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Aim: Preterm children are highly vulnerable to sensorial impairments through Retinopathy Of Prematurity (ROP). The objective was to determine whether some cases of ROP requiring surgery could be secondary to deficiencies in care pathways. Methods: Descriptive study of neonatal characteristics and the screening/treatment pathways of children treated for stage ≥4A ROP from 2009 to 2020 in a referral unit in France. Results: Twenty‐five preterm children (44 eyes) were included: median gestational age was 25 weeks, and median birthweight was 700 grams. Eighty‐four per cent had received at least one fundus examination, 50% of which were completed on time. At the time of retinal detachment diagnosis, only 36% of the children had received laser or anti‐vascular endothelial growth factor (VEGF) intra‐vitreal injection. ROP stage was only reported in 8%, and the zone or type was reported in 16% of the files. Conclusion: The risk of blindness and the effectiveness of laser or anti‐VEGF treatment highlight the need to enhance screening and treatment practices in France. [ABSTRACT FROM AUTHOR]

Santolina is a clear example of a genus lying in an alpha‐taxonomic status, with species accepted only based on qualitative morphological descriptions. In particular, taxonomic issues still need to be resolved for Santolina populations from southern France and north‐eastern Spain, and so, we carried out an integrative taxonomic study involving morphometrics, cypsela morphometrics, niche overlap, and phylogenetic analysis based on six plastid markers (trnH‐psbA, trnL‐trnF, trnQ‐rps16, rps15‐ycf1, psbM‐trnD, and trnS‐trnG). Our results revealed that the current taxonomic circumscription is not adequate. In particular, the Santolina populations at the foothills of eastern Pyrenees, previously included in the variability of Santolina benthamiana, have to be considered as a distinct species, namely, Santolina intricata. In addition, despite their high phylogenetic relatedness, S. benthamiana s.str. and Santolina ericoides can still be considered as distinct species due to clear morphological and ecological differentiation. Finally, we demonstrated that three different subspecies can be recognized in Santolina decumbens, a species endemic to Provence. For one of these subspecies, due to its extremely restricted distribution range, conservation issues are pointed out. [ABSTRACT FROM AUTHOR]

Strain Marseille-Q6994 was isolated from a 72-year-old patient with pneumonia from Bouches-du-Rhône department, in France. Cells were Gram positive, non-motile, catalase and oxidase-negative cocci. The major fatty acids were hexadecanoic (47.4%) and tetradecanoic acids (28.3%). 16S rRNA gene sequence comparison suggested that strain Marseille-Q6994 was affiliated to the Streptococcus genus. GroEL phylogenetic analysis separated strain Marseille-Q6994 in a distinct branch from the closely related Streptococcus-type strains with standing in nomenclature. Whole genome sequencing-based methods (OrthoAverage Nucleotide Identity, digital DNA–DNA hybridization and pangenome analysis) supported the classification of the strain into a novel species. Therefore, based on the phenotypic, genomic, and phylogenetic analyses, we propose the name Streptococcus bouchesdurhonensis sp. nov for which strain Marseille-Q6994T (CSUR Marseille-Q6994 = DSMZ 113892) is the type strain. [ABSTRACT FROM AUTHOR]

We report the 51/2 year prevalence of visual and oculomotor impairments in preterm children born at 24–34 weeks' gestation (WG) using the population-based cohort study EPIPAGE-2, set in France, 2011. The main outcomes were imputed prevalence of refractive errors (REs), strabismus, and binocular visual acuity (VA). Children were clinically assessed by specially trained pediatricians. The population was also analyzed in terms of cerebral palsy at 51/2 years (no CP, stage 1, stage 2, or stage 3–5) and retinopathy of prematurity in the neonatal period (no ROP, stage 1 or 2, or severe ROP). Among the 4441 children included, 2718 (weighted percentage 58.7%) were clinically assessed. REs were reported in 43.1% (95% confidence interval 37.6–48.4), 35.2% (32.7–37.6), and 28.4% (25.0–31.8) of children born at 24–26, 27–31, and 32–34 WG (p < 0.01), respectively; strabismus rates were 19.5% (14.6–24.4), 14.8% (12.9–16.7), and 8.3% (6.2–10.4) (p < 0.001), respectively. Moderate/severe visual deficiencies (VA < 3.2/10) were present in 1.7% (0.2–3.3) of children born at 24–26 WG, and in less than 1% in other groups. A suboptimal VA 5/10–6.3/10 was measured in 40.6% (35.3–45.8) of children born at 24–26 WG, 35.8% (33.5–38.1) at 27–31 WG, and 33.7% (30.4–37.0) at 32–34 WG. CP and ROP were associated with strabismus and RE. The association between CP and VA was strong, while it was not observed for ROP. In this large cohort of preterm-born children, we found a high prevalence of RE and strabismus regardless of WG, supporting the need for specific attention in this population. High prevalence of suboptimal VA could be challenging for these children at the age of reading and writing acquisition. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the clinical profile and visual outcomes of infectious endophthalmitis in children at a single tertiary hospital in France, and propose an evidence-based protocol for management. Methods: This is a retrospective monocentric study that involved children with a history of endophthalmitis between January 2008 and January 2020. The clinical characteristics, etiology, microbiological spectrum from aqueous/vitreous tab, anatomical and visual outcomes, and management were analyzed. The Fischer and chi-square tests were used in the statistical evaluation. Results: Twenty-six children were eligible for inclusion. The mean patients age at presentation was 4.2 years (range, 8 days–14.3 years). With regard to etiology, patients were divided into posttraumatic group (n = 7 (26.9%)), postoperative group (n = 15 (57.7%)), endogenous group (n = 3 (11.5%)), and infectious corneal ulcer group (n = 1 (3.9%)). Time-to-onset of symptoms was highest in children ≤ 3 years old and in the postoperative subgroup who had at least one glaucoma procedure. Microbiology results showed growth in 12/26 (46.2%). The most common microorganism identified was Streptococcus pneumoniae (5/12 (41.7%)). The antibiotic regimen varied depending on age, organism, and sensitivities. The final visual outcomes were 20/200 or better in 11/26 (42.3%) eyes, and 13/26 (50.0%) eyes had no light perception. Twelve of twenty-six (46.2%) eyes ended up with phthisis bulbi. Conclusion: Pediatric endophthalmitis is a rare but devastating condition with poor visual prognosis, requiring prompt recognition and treatment. Despite aggressive management with antibiotics and vitrectomy, the visual prognosis is generally poor. A protocol for management with an adapted systemic antibiotic therapy is proposed in order to improve outcomes. [ABSTRACT FROM AUTHOR]

Simple Summary: Large genomic rearrangements in BRCA1 consisting of deletions/duplications of one or several exons are complex events, often occurring in the 5′ region. We characterized 10 events in 20 families: one large triplication classified as benign and nine large deletions classified as pathogenic. The breakpoint localization will certainly help to further understand the chromatin structure in regions sensitive to rearrangement. Background: Large genomic rearrangements (LGR) in BRCA1 consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5′ region from the promoter to exon 2. The aim of this study was to better characterize those LGR in French high-risk breast/ovarian cancer families. Methods: DNA from 20 families with one apparent duplication and nine deletions was analyzed with a dedicated comparative genomic hybridization (CGH) array, high-resolution BRCA1 Genomic Morse Codes analysis and Sanger sequencing. Results: The apparent duplication was in fact a tandem triplication of exons 1 and 2 and part of intron 2 of BRCA1, fully characterized here for the first time. We calculated a causality score with the multifactorial model from data obtained from six families, classifying this variant as benign. Among the nine deletions detected in this region, eight have never been identified. The breakpoints fell in six recurrent regions and could confirm some specific conformation of the chromatin. Conclusions: Taken together, our results firmly establish that the BRCA1 5′ region is a frequent site of different LGRs and highlight the importance of the segmental duplication and Alu sequences, particularly the very high homologous region, in the mechanism of a recombination event. This also confirmed that those events are not systematically deleterious. [ABSTRACT FROM AUTHOR]

To describe clinical features, management, and outcomes of posterior persistent fetal vasculature (PFV) and suggest a management algorithm. Retrospective, consecutive case series. All children diagnosed with posterior PFV and treated or followed at the Rothschild Foundation Hospital in France between June 2011 and September 2021. Retrospective analysis of the clinical characteristics of posterior PFV. We reported age, gender, presenting symptoms, intraocular pressure, and visual acuity (VA) at diagnosis. Patients were divided into 4 groups depending on the severity and involvement or not of anterior segment. We reported the vitreoretinal surgical techniques used. Anatomic results, ocular hypertension, best-corrected distance visual acuity (BCDVA), presence of postoperative adverse events, and additional surgical interventions were recorded at each follow-up visit. Ninety-six patients were included. The median age at diagnosis was 8 months (IQR = 12), mean 18.9 ± 30.9 months) with a mean follow-up of 27 ± 31.2 months. Although PFV is often an isolated disease, it was associated with a systemic disease in 8% of cases. There was anterior involvement in 62 (64%) of eyes. Forty-one eyes (42.7%) were microphthalmic and more frequently associated with severe PFV (53% vs. 25%; P = 0.01). Surgery was performed in 85 patients (89%). Of them, 69 (81%) had a total success, 5 (6%) had a partial success due to persistent limited peripheral retinal detachment (RD), and 11 (13%) had a failure due to persistent total RD after surgery. Postoperative adverse events occured in 38 eyes including ocular hypertension requiring eye drop medication (7.1%), secondary cell proliferation around the intraocular lens (8.2%), intravitreal hemorrhages (7.1%), and persistent tractional RD (10.6%). Second surgery was performed in 18 patients (21%). At last follow-up, VA could be measured in logarithm of the minimum angle of resolution in 43 children (45%), light perception in 21 eyes (22%), and no light perception or impossible to assess in 32 eyes (33%). In our case series, most patients presenting with posterior PFV received complex vitreoretinal surgery. Goals of the surgery vary and include retinal flattening, reduction of vitreoretinal traction, freeing of visual axis, and aesthetic concerns. We propose a surgical and medical management algorithm for PFV. Proprietary or commercial disclosure may be found after the references. [ABSTRACT FROM AUTHOR]

Three partially overlapping breast cancer polygenic risk scores (PRS) comprising 77, 179 and 313 SNPs have been proposed for European-ancestry women by the Breast Cancer Association Consortium (BCAC) for improving risk prediction in the general population. However, the effect of these SNPs may vary from one country to another and within a country because of other factors. To assess their associated risk and predictive performance in French women from (1) the CECILE population-based case-control study, (2) BRCA1 or BRCA2 (BRCA1/2) pathogenic variant (PV) carriers from the GEMO study, and (3) familial breast cancer cases with no BRCA1 /2 PV and unrelated controls from the GENESIS study. All three PRS were associated with breast cancer in all studies, with odds ratios per standard deviation varying from 1.7 to 2.0 in CECILE and GENESIS, and hazard ratios varying from 1.1 to 1.4 in GEMO. The predictive performance of PRS 313 in CECILE was similar to that reported in BCAC but lower than that in GENESIS (area under the receiver operating characteristic curve (AUC) = 0.67 and 0.75, respectively). PRS were less performant in BRCA2 and BRCA1 PV carriers (AUC = 0.58 and 0.54 respectively). Our results are in line with previous validation studies in the general population and in BRCA1/2 PV carriers. Additionally, we showed that PRS may be of clinical utility for women with a strong family history of breast cancer and no BRCA1/2 PV, and for those carrying a predicted PV in a moderate-risk gene like ATM , CHEK2 or PALB2. • Three polygenic risk scores for breast cancer assessed in 3 groups of French women. • All of them associated with breast cancer but effects varied depending on group. • Predictive ability is higher in women with no BRCA1 or BRCA2 pathogenic variant. • Opportunity to refine risk stratification in carriers of a moderate-risk variant. • Effects of SNPs in polygenic risk scores vary depending on country and population. [ABSTRACT FROM AUTHOR]

The article presents a study on the maternal outcome of women after treatment for placenta accreta. It states that women who undergone conservative treatment from 1993-2007 in 40 tertiary hospital centers in France were included in the study. The results showed that 25 hospitals out of the 40 that participated used at least one conservative treatment and had a total of 167 treated women. It also discusses the health benefits of conservative treatment for women with placenta accreta.

Background: Necrotizing enterocolitis is the most severe life-threatening acquired gastrointestinal disorder among preterm neonates. We describe here an outbreak of Clostridium butyricum-related necrotizing enterocolitis in preterm neonates that occurred in three different neonatal centres, in southeast France., Methods: We defined a confirmed case of C. butyricum-related necrotizing enterocolitis in preterm neonates by the presence of clinical signs according to modified Bell criteria and C. butyricum identified from stool samples using real-time polymerase chain reaction or culture. A phylogenetic analysis of the isolated strains by whole-genome sequencing was also performed., Results: Between 5 th and 27 th January 2022, we identified 10 confirmed cases of C. butyricum-related necrotizing enterocolitis, including five from Neonatal Centre 1, four from Neonatal Centre 2, and one from Neonatal Centre 3. The attack rate of necrotizing enterocolitis in Neonatal Centre 1 was 7.1% (5/70). The positivity rate of C. butyricum detected from stool samples was higher during the outbreak period (37/276; 13.4%) than outside this period (7/369; 1.9%), while systematic screening was maintained (P<0.001). Phylogenetic analysis showed a clonality between strains inside four clusters. Two clusters included neonates hospitalized in different neonatal centres, suggesting the transmission of C. butyricum strains during the transfer of neonates between neonatal centres., Conclusions: This outbreak of C. butyricum-related necrotizing enterocolitis confirms a cross-transmission between preterm neonates, including twin or triplet siblings, and involving necrotizing enterocolitis cases together with asymptomatic carriers. After three months of follow-up, no further cases were identified following the implementation of contact precautions with sporicidal agents., (Copyright © 2024. Published by Elsevier Ltd.)

Background: The purpose of the study was to challenge the hypothesis of an introduction of influenza viruses by international travellers and subsequent local circulation in Marseille, France., Methods: We analysed the epidemiological data of PCR-confirmed cases over an eight-year period and compared the genomic data of local and imported influenza viruses during a six-month period., Results: Between June 2013 and December 2020, 12,434 patients in the Assistance Publique-Hospitaux de Marseille were diagnosed with an influenza virus infection at the laboratory of the Institut Hospitalo-Universitaire Méditerranéee Infection of Marseille. Half of the patients were below the age of 20. Most of the imported cases were diagnosed outside of epidemic periods. Fourteen genomes of the influenza A virus, including six in international travellers returning from Europe or from the Arabian Peninsula and eight from patients who had not travelled were analysed. Sequences of influenza A/H1N1 virus genomes detected in subjects who had travelled to Saudi Arabia were in the same clade and differed from sequences detected later in a traveller returning from Italy, and in non-travellers who were infected in Marseille. This suggests that influenza viruses imported from Saudi Arabia did not subsequently circulate in Marseille., Conclusion: Future studies with higher numbers of genomes are needed to confirm this result., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

The association between Clostridium species identification from stool samples in preterm neonates and the occurrence of necrotizing enterocolitis has been increasingly reported. To confirm the specific impact of Clostridium butyricum in this pathology, selective culture procedure was used for Clostridia isolation. Whole-genome analysis was employed to investigate genomic relationships between isolates. Stool samples from present study, as well as from previously investigated cases, were implicated including 88 from preterm neonates with necrotizing enterocolitis and 71 from matched controls. Quantitative real-time polymerase chain reaction was performed to evaluate the presence of C. butyricum from stools of new cases. Clostridium species prevalence isolated by culture was compared between patients with necrotizing enterocolitis and controls. By combining results of both culture and quantitative polymerase chain reaction methods, C. butyricum was significantly more frequent in stool samples from preterm neonates with necrotizing enterocolitis than in controls. Whole-genome analysis of 81 genomes including 58 neonates' isolates revealed that cases were clustered depending on geographical origin of isolation. Controls isolates presented genomic relations with that of patients suggesting a mechanism of asymptomatic carriage. Overall, this suggests an epidemiology comparable to that observed in Clostridium difficile colitis in adults.

Purpose: To investigate whether propensity score (ps) methods could reasonably be applied to estimate the treatment effect on mortality, based on a comparatively small sample of patients with severe cutaneous adverse reactions (SCAR) and who come from different countries where physicians prefer different treatment schemes., Methods: Ps methods were applied to cope with confounding due to non-randomized treatment assignment for the analysis of the treatment data obtained in the case-control study EuroSCAR. For the study's purpose, the analysis focused on the comparison of the treatments: corticosteroids (STER) and supportive care only (SUPP)., Results: 206 French and German patients were treated either with SUPP or STER. Imbalances between treatment groups as well as between the countries were recognized. Concerning the balance between the treatment groups no ps model for the full cohort was satisfying. In addition, the inclusion of a variable for patient's country led to a separation of the patients by country. Thus, we developed ps models for each country separately and estimated the treatment effects (France: odds ratio (OR) 0.52, 95% confidence interval (CI) 0.09-3.10, Germany: OR 0.23, CI 0.06-0.92, Overall: OR 0.33 CI 0.11-1.04)., Conclusions: The application of the ps methods was successful and provided valuable information. We could confirm the findings of the original analysis which was based on standard logistic regression, especially concerning the necessity of a country-specific analysis. The observed country differences in the estimated treatment effects were less pronounced and thus seemed to be more reasonable than those of the past analysis.