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In France, approximately 500 deaths per year are related to sudden infant death syndrome (SIDS). After a 75% reduction of SIDS-related deaths in the 1990s, thanks to large prevention campaigns directing parents to put their infants to sleep on their back, the number of SIDS-related deaths remains stable. However, we estimate that 100-200 infant deaths per year in France could be prevented with better education on the risk factors for SIDS. In this prospective, descriptive monocentric study, we aimed to evaluate the level of expectant women's knowledge about SIDS. Questionnaires were distributed during a midwife consultation. A score on sleeping conditions, environmental and protective factors was determined with coefficients attributed according to their relevance to SIDS. Of 296 questionnaires distributed, 202 were completed and included in the analysis from March 1 to September 21, 2018. Scores were distributed from 2 to 46/50. The average score was 28.6/50. Information was principally obtained from media and not health professionals. When the information was delivered by a caregiver, in particular by a paediatrician, we observed better knowledge among these women. This study shows that it is important for health professionals to take the time to inform future mothers about the risk factors for SIDS, especially the least informed population groups such as young mothers and those from lower socioeconomic status, in order to reduce the number of avoidable infant deaths., (Copyright © 2019 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Tumor characteristics are used today to evaluate the possibility of mutation and to target mutation screening in families with high risk of breast and/or ovarian cancer. We studied the breast tumor profile associated to the c.3481&#95;3491del11 French founder effect mutation on the BRCA1 gene to an attempt to identify any particularity or difference when comparing it to that related to other BRCA1 mutations. Within the population who were referred to our oncogenetic clinic at the Lorraine Oncology Institute in France and who underwent genetic testing between 1994 and 2012, we identified 404 women carrying a BRCA1 mutation. Interestingly, 45% (180/404) women had the germline c.3481&#95;3491del11 mutation. These included 91 patients affected by first breast cancer. Clinical and pathologic data were retrieved from medical files. Descriptive statistics were conducted using the SPSS software (version 20.0). For the entire cohort of 91 women, the mean age was 43.64 years (SD 10.04). Tumors were identified in 37.4% of cases aged < 40 years. Estrogen receptor status and progesterone receptor status were reported to 67 patients. Seventy-four percent were ER negative. Hormonal receptors status was negative in 68.6% of tumors. HER2 status was available for 32 tumors. The triple-negative subtype was found in 21 cases, which accounts for 65.6% of the patients. High tumor grade was found in 81% of triple negative breast cancer patients. Based on our results compared to those of previous international studies, we concluded that the breast cancer associated to the c.3481&#95;3491del11 is not different from that associated to other BRCA1 mutations. A larger cohort with complete information on the breast cancer pathologic characteristics and including other BRCA1 mutations would allow us to statistically compare the breast tumor profile associated to the c.3481&#95;3491del11 to that related to other BRCA1 mutations.

Aim: Our aim was to study horizontal and vertical smooth pursuit eye movements in children with developmental coordination disorder (DCD)., Method: Horizontal and vertical smooth pursuit eye movements of 91 children were studied using electro-oculography: 27 children with DCD (23 males, four females), according to the DSM-IV-TR criteria, and 64 comparison children (26 males, 38 females). All children were 7 to 12 years old (mean 9y, SD 1.5y). Among the group of children with DCD, eight had received intervention. Intervention exercised static and dynamic fixation, saccades, visual strategies, visuospatial abilities, and eye-hand coordination. A smooth pursuit gain index was calculated and statistical comparisons were made between the two groups of children., Results: Horizontal pursuit gain was similar in both populations, but vertical pursuit gain was significantly impaired (p<0.001, after adjusting for age as covariate), i.e. more saccadic in children with DCD (18-99%; n=27, mean 51.6%, median 48.5%, SD 23.2%) than in comparison participants (35-97%; n=63, mean 66.4%, median 65.0%, SD 15.4%). Among the DCD group, the vertical pursuit index was also significantly higher (p=0.009) in the intervention subgroup (29-99%; n=8, mean 69.4%, median 75.5%, SD 28.7%) than in the non-intervention subgroup (18-74%; n=19, mean 44.1%, median 42.5%, SD 15.9%)., Interpretation: These results suggest a delay in the maturation of the pursuit system in children with DCD., (© 2014 Mac Keith Press.)

Background: This study was designed to investigate the impact on mortality of colonization by glycopeptide-resistant Enterococci (GRE) during hospitalization., Methods: Between 2004 and 2006, a hospital in Nancy, France, was subject to a GRE van A outbreak. Some 113 patients who had acquired GRE after hospital admission were matched with 113 controls. Basic demographic data, such as sex, age, principal pathology, history of surgery, and presence of associated pathology, were obtained for each case and control. Information on whether or not the case subject was still alive was obtained by searching the hospital mortality database and the civil death register and by phoning the patient's home. Statistical analysis used the Cox proportional hazards model for calculating survival function with SPSS software version 9.1 (SPSS Inc., Chicago, IL)., Results: The mean age was 71.2 in the GRE+ group and 70.8 in the control group (P = .80). There was a significant difference between the groups for severity status health (P = .035). The mortality rate was 30.1% in the case group and 19.5% in the control group. Single predictor variable analysis showed a hazard ratio of death in the case group of 4.61 (95% confidence interval [CI]: 2.58-8.28], P = 2 x 10(-7)). The final Cox regression model with multiple predictor variables showed that only GRE presence (OR, 1.63 [95% CI: 1.04-2.57], P = .035) and severity of comorbidity (P = .013) were independently significant predictors of mortality., Conclusion: This study shows that the GRE acquisition has a poor prognosis and that this is independent of the other prognostic factors such as age and severity of underlying disease. Survival in GRE+ patients was significantly shorter.

To date, biomedical research using nominal data files for the data collection, data acquisition or data processing has had to comply with 2 French laws (Law of December, 20, 1988, modified, relating to the protection of patients participating in biomedical research, and the Law of January, 6, 1978, completed by the Law of July 1, 1994 n degrees 94-548, chapter V bis). This later law dictates rules not only for the establishment of nominal data files, but also confer individual rights to filed persons. These regulations concern epidemiological research, clinical trials, drug watch studies and economic health research. In this note, we describe the obligations and specific general and simplified procedure required for conducting biomedical research. Included in the requirements are an information and authorization procedure with the local and national consultative committees on data processing in biomedical research (CCTIRS, Comité Consultatif sur le Traitement de l'Information en Recherche Biomédicale, and CNIL, Commission Nationale Informatique et Libertés).

Wide inter-individual variation of expression of compound metabolic enzymes is determined by polymorphism and may predispose the development of diseases provoked by environmental factors. The combined analysis of phase II detoxification system genes: arylamine N-acetyltransferase 2 (NAT2), and glutathione S-transferases (GST) M1 and T1 was carried out in patients with minimal/mild (group I; n = 36) and moderate/severe endometriosis (group II; n = 29) and controls (n = 72) of French origin, using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The results show a significant difference between patients and controls with regard to NAT2 gene polymorphism (P < 0.05). This is mainly due to the high percentage of slow acetylator genotypes (SA) in patients compared with controls (60.0 versus 38.9%; P < 0.02) with a distinct preponderance in subjects with minimal/mild endometriosis (69.4%, P < 0.005) where there is a significantly elevated frequency of slow allele S1 (NAT2*5) (P = 0.05). Significantly increased proportions of GSTM1-deficient genotypes were found in both groups of patients, in comparison with the controls (75.0 and 79.3% versus 45.8%; P < 0. 0001). A preponderance of GSTT1-negative subjects among patients was also detected, but did not appear significant. We suggest the involvement of both NAT2 and GSTM1 detoxification system genes in the pathogenesis of endometriosis and the possible impact of NAT2 gene polymorphism in the development of different forms of this disease.

Endometriosis is a multifactorial disease with possible genetic predisposition and involvement of environmental factors in its pathogenesis. The genetic polymorphism of glutathione S-transferase M1 (GSTM1) gene, which codes for glutathione S-transferase 1, class mu foreign compound conjugating enzyme of phase II detoxification system, was studied by polymerase chain reaction from the blood spots in patients with different stages of endometriosis (n = 50) and in controls (n = 72) of French origin. A total of 86.0% of patients appeared to lack GSTM1 enzyme activity due to the presence of an extended deletion (GSTM1 0/0 genotype), compared with 45.8% in a control group (P < 0.0001), which was consistent with the frequency of GSTM1 deletion in French population. Moreover, the distribution of GSTM1-active genotypes was significantly different in patients and controls (P < 0.0001), as no patient with GSTM1A/B genotype, which is correlated with the highest activity of GSTM1 enzyme, has been found so far (18.1% in a control group). The unusually high frequency of homozygotes for the GSTM1 gene deletion among patients with endometriosis suggests a possible contribution of environmental toxins in the pathogenesis of this disease due to the absence or low activity of GSTM1 enzyme.

A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB: n = 102) and hard smokers (HS) with no permanent clinical symptoms of chronic bronchitis (n = 172). The GSTM1 0/0 genotype was found in 71.3% and 65.7% of cases in SCB and MCB, respectively, compared with only 47.1% in the control HS group (P = 0.0002). This latter figure (47.1%) is consistent with the average GSTM1 deletion frequency in French Caucasians. Moreover, the results showed a significant difference in the distribution of the GSTM1 0/0 genotype for both the SCB and MCB groups against the control HS group, according to gender (SCB: P = 0.001; MCB: P = 0.005), age (SCB: P = 0.0001; MCB: P = 0.005) and smoking history (SCB: P = 0.0001; MCB: P = 0.005). Thus, individuals homozygous for the GSTM1 gene deletion, especially in the under-41 age group (SCB: P = 0.001; MSB: P = 0.04) with an average smoking history of 16-30 pack-years (SCB: P = 0.002; MSB: P = 0.01) are more prone to chronic lung diseases, such as SCB and MCB, than are GSTM1 +/+ or 0/+ subjects. Population screening of young people for the identification of GSTM1 0/0 subjects, with special emphasis on smoking habits, might be useful (1) for the early detection of individuals at high risk of lung complications caused by environmental toxins and pollutants and (2) in clinical practice, in order to prevent the development of chronic bronchitis, which is a common disease.

Purpose: The purposes of this study were to evaluate the incidence of uveal melanoma in France in 1992, to describe the characteristics of the tumors and their treatments., Methods: This was a retrospective and multicentric study. First a questionnaire was sent to 4575 French ophthalmologists asking whether they had established a diagnosis of uveal melanoma during 1992, and if so, to describe the tumor and its management. Then the patients files were reviewed in the specialized treatment centers (Paris, Lyon, Nice, Strasbourg, Bordeaux, Clermont-Ferrand). All the data were statistically analysed., Results: 412 new cases of uveal melanomas were registered (incidence 0.7/100000) affecting 234 females and 178 males. The cases ranged in age from 7 to 93 years (mean 61.5 years). There were 5 (1%) isolated tumors of the iris, 75 (18%) of the ciliary body, either isolated (10%) either associated to iris and/or to choroïdal tumors and 332 (81%) choroïdal melanomas. 201 (53%) tumors were posterior to the equator and 153 (40%) had a margin at less than 3 mm of the optic disc; 87 (21%) melanomas were detected in asymptomatic patients. In 29 (7%) other cases, the diagnosis was established after enlargement of the tumor. In all other eyes, symptoms were present. 17% of the melanomas were T1, 34% were T2, et 48% were T3. 353 (86%) melanomas were pigmented, 30 (7%) were achromic and 29 (7%) of the mixed color type. 156 (38%) tumors were associated with a retinal detachment. In 12 cases (3%), at presentation there was an extrascleral extension. 9 patients (2%) had metastases (7 to the liver, 1 to the lungs and 1 to the lungs and bones). The study of the patients residence and work did not show any environmental risk factor. The initial treatment was protontherapy in 251 patients (63%), plaque therapy in 91 (23%), enucleation in 40 (10%), and other methods in 18., Conclusion: This was the first epidemiologic study conducted in France on this subject. It describes the clinical features of the disease, its geographical display and its management in this country.

A representative sample of 1,200 schoolchildren of Auvergne (France) ranging in age from 6 to 15 years was randomly selected. Dental caries experience was determined using the dft, DMFT and DMFS indices. The plaque index and the gingival index were also recorded. Comparison with an identical 1987 study enabled the changes in schoolchildren's dental health to be examined. Significant reductions were observed in all age groups for the DMFT and DMFS indices and in the 6-9-year-old group for the dft index. The mean DMFT score for 12-year-old children was 1.97 in 1991, as compared to the score of 4.62 reported in 1987 (57.3 per cent reduction). While no significant variation was observed in the gingival index, the plaque index decreased significantly for the 7-14-year-old group. The comparison confirmed the trend to a lower caries experience in schoolchildren in Auvergne as in many Western European countries.

Interstitial irradiation is a technique currently used in the treatment of bladder cancer. We report the data on 205 patients (177 men and 28 women) treated in eight French centers. The patients had received the following treatment: a short course of pre-operative pelvic irradiation, followed by surgery consisting of partial cystectomy or tumor resection, and implantation of plastic tubes filled with inactive lead wires, which were replaced by iridium 192 wires. The tumor characteristics were: transitional cell carcinoma, 88.8%; mean size of the tumor, 29 mm; pathological stages: pTis, 1; pT1, 98; pT2, 66; pT3a, 26; pT3b, 9; pT4, 1; unknown, 4 respectively; surgical lymph node status: N+, 3; N-, 118; no node dissection, 84. The mean follow-up was 51 months. Intravesical failures were seen in 35 patients (17.0%), 25 (71.4%) of them without metastases or regional recurrences. Twenty-one patients (10.2%) presented distant metastases, 2/3 of them suffered no bladder relapse. The 5-year survival, calculated according to the Kaplan-Meier method (all causes of death taken together) was 77.4% for the T1, 62.9% for the T2, and 46.8% for the T3. Fifty-three patients had immediate side-effects and three died from surgical complications. Twenty-nine patients had delayed bladder side-effects (haematuria, fistula, chronic cystitis). Six patients presented an ureteral stenosis. Of the disease-free survivors, 96.1% retained the bladder function. Three factors were significantly predictive of delayed side-effects: partial cystectomy, pre-operative radiotherapy total dose, and linear activity of the wires (p < 0.01). Comparing our results to different authors' series interstitial irradiation is likely to provide a high local and general control of the disease and good quality of life in patients with selected tumors.

A study of the prevalence of dental caries in schoolchildren aged 6 to 15 years living in of the Center of France showed that the disease appeared soon after eruption with a high prevalence in both the deciduous and permanent teeth. The periodontal condition, studied by the plaque, calculus and gingival indices, showed a moderate degree of inflammation.