Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France

<p>Abstract</p> <p>Background</p> <p>Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006.</p> <p>Methods</p> <p>Consecutive NF1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths. We studied factors associated with death and causes of death.</p> <p>Results</p> <p>Between 1980 and 2006, 1895 NF1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6). Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF1 cohort (SMR, 2.02; CI, 1.6-2.6; <it>P </it>< 10^-4). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; <it>P </it>< 10^-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; <it>P </it>< 10^-4). Significant excess mortality was found in both males and females. In the 10-20 year age group, females had a significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6%) patients; malignant nerve sheath tumor was the main cause of death (60%).</p> <p>Conclusions</p> <p>We found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population. The definitive diagnosis of NF1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study. Mortality was significantly increased in NF1 patients aged 10 to 40 years and tended to be higher in females than in males.</p

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

<p>Abstract</p> <p>Background</p> <p>Obesity seems to be linked to the hypothalamic involvement in craniopharyngioma. We evaluated the pre-surgery relationship between the degree of this involvement on magnetic resonance imaging and insulin resistance, as evaluated by the homeostasis model insulin resistance index (HOMA). As insulin-like growth factor 1, leptin, soluble leptin receptor (sOB-R) and ghrelin may also be involved, we compared their plasma concentrations and their link to weight change.</p> <p>Methods</p> <p>27 children with craniopharyngioma were classified as either grade 0 (n = 7, no hypothalamic involvement), grade 1 (n = 8, compression without involvement), or grade 2 (n = 12, severe involvement).</p> <p>Results</p> <p>Despite having similar body mass indexes (BMI), the grade 2 patients had higher glucose, insulin and HOMA before surgery than the grade 0 (P = 0.02, <0.05 and 0.02 respectively) and 1 patients (P < 0.02 and <0.03 for both insulin and HOMA). The grade 0 (5.8 ± 4.9) and 1 (7.2 ± 5.3) patients gained significantly less weight (kg) during the year after surgery than did the grade 2 (16.3 ± 7.4) patients. The pre-surgery HOMA was positively correlated with these weight changes (P < 0.03).</p> <p>The data for the whole population before and 6–18 months after surgery showed increases in BMI (P < 0.0001), insulin (P < 0.005), and leptin (P = 0.0005), and decreases in sOB-R (P < 0.04) and ghrelin (P < 0.03).</p> <p>Conclusion</p> <p>The hypothalamic involvement by the craniopharyngioma before surgery seems to determine the degree of insulin resistance, regardless of the BMI. The pre-surgery HOMA values were correlated with the post-surgery weight gain. This suggests that obesity should be prevented by reducing inn secretion in those cases with hypothalamic involvement.</p

Expansion of Regulatory T Cells in Patients with Langerhans Cell Histiocytosis

Frederic Geissmann and colleagues find that Langerhans cell accumulation in Langerhans cell histiocytosis results from survival rather than uncontrolled proliferation, and is associated with the expansion of regulatory T cells

L'appariement de l'offre et de la demande sur les marchés locaux du travail : une comparaison entre espaces ruraux et espaces urbains

International audienceMatching supply and demand on local labour markets: the urban-rural differencesWe compare rural and urban labour markets in order to check the impact of density on labour markets when firms are heterogeneous in their job requirements and workers are heterogeneous in their skills. Using the results of a survey carried out in the French Midi-Pyrénées region, we analyze how, for comparable firm sizes and sectors, location influences matching between potential job seekers and offerers. We propose here to focus on local labour markets density to analyze its impact on recruitment difficulties experienced by firms and their consequences on manpower turnover. Our basic idea is that in less dense markets, and therefore in rural areas, the probability for an employer to find a suitable employee should be lower because agents' heterogeneity translates into a reduction in the diversity of job seekers' skills and specializations and of firms' job requirements.Les modèles d'appariement sur les marchés locaux du travail suggèrent que la faible densité des marchés du travail ruraux est de nature à rendre plus difficile que dans un contexte urbain l'appariement de la demande et de l'offre de travail car les entreprises et les travailleurs y sont en général davantage dispersés dans l'espace des qualifications et des spécialisations des emplois. En outre, les modes de mise en relation de l'offre et de la demande de travail ne sont vraisemblablement pas les mêmes dans les agglomérations urbaines que dans les zones rurales. En utilisant des données issues d'une enquête auprès d'un échantillon d'entreprises de la région Midi-Pyrénées, on se propose d'analyser les conséquences de cette variabilité dans l'espace des modalités d'appariement de l'offre et de la demande de travail sur la gestion des flux de main d'œuvre et la mobilisation des dispositifs des politiques publiques de l'emploi par les firmes

L'appariement de l'offre et de la demande sur les marchés locaux du travail : une comparaison entre espaces ruraux et espaces urbains

C25, J63.labour market, manpower flows, matching, rural areas

Limited Dorsal Myeloschisis: A Diagnostic Pitfall in the Prenatal Ultrasound of Fetal Dysraphism

International audienceObjective: To determine the ultrasonographic characteristics of limited dorsal myeloschisis (LDM) at prenatal ultrasound (US) and to highlight the main features that may help differentiate LDM and myelomeningocele (MMC). Methods: In a tertiary reference center in fetal medicine, we prospectively collected the medical data and ultrasonographic characteristics of all patients referred for in utero prenatal repair of MMC between November 1, 2013 and April 30, 2015. Results: Among the 29 patients assessed, the diagnosis of MMC was revised in 7 cases. In 6 cases, the diagnosis of LDM was established. On US scan, LDM was characterized by a spinal saccular lesion with a thick peripheral lining in continuity with the adjacent skin. Within the saccular lesion, a thick hyperechoic well-delineated structure was present in continuity with the spinal cord. Cerebral structures were normal except for 2 cases showing a cisterna magna slightly decreased in size. In the remaining 22 cases MMC was confirmed, with cerebral anomalies present in 21/22 cases (95.5%). Conclusion: LDM is a form of closed dysraphism accessible to prenatal diagnosis by US that may mimic MMC. Considering the major difference in prognosis between these two entities, physicians should be aware of the existence and ultrasonographic characteristics of LDM

Sonographic Evaluation of Fetal Conus Medullaris and Filum Terminale

Background: Sonographic evaluation of the fetal conus medullaris (CM) level is not reproducible. The objectives of this study were to determine the normal position of the fetal CM during pregnancy as well as the normal intradural filum terminale (FT) length and to evaluate their use in detecting tethered cord. Methods: This is a prospective evaluation of normal singleton pregnancies examined by sonography from 17 weeks of gestation to term. Each sonographer had to identify the top of the first sacral vertebra (S1) to measure the distance between it and the conus extremity (CM-S1 distance). The intradural FT distance was measured with 5- to 8-MHz probes. Results: 194 consecutive pregnant women were included. The CM and intradural FT were demonstrated clearly in 164 (84%) cases. The mean CM-S1 distance was 20.6 mm (range 0.5-42). The mean intradural FT distance was 27.9 mm (range 6.6-49.3). Linear regression analysis showed a significant association between both those distances and gestational age (p < 0.05). In cases of tethered cord, the mean CM-S1 distance and the mean intradural FT distance were both below the 5th percentile. Conclusion: Prenatal evaluation of the CM and the intradural FT is feasible and reproducible and seems useful in detecting tethered cord.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Radiofrequency Is a Safe and Effective Treatment of Turbinate Hypertrophy

International audienceObjective: To evaluate the safety and efficacy of radiofrequency for reduction of inferior turbinate volume.Study design: Prospective before-and-after trial.Methods: Fourteen patients complaining of chronic nasal obstruction and failing to respond to medical treatment were prospectively enrolled. All patients presented with inferior turbinate hypertrophy and no septal deformity. Radiofrequency inferior turbinate tissue reduction with three punctures in each turbinate (mean energy/puncture: 342 +/- 36 J, mean duration: 69 +/- 17 s, plateau tissue temperature: 75 +/- 6.4 degrees C). Patients were evaluated before and on days 3, 7, and 60 after intervention.Results: No postoperative pain or complications were reported. Evaluation of nasal obstruction, quantified by visual analogue scale, showed a significant decrease of day time and nighttime obstruction after surgery. Acoustic rhinometry measurements showed that turbinate hypertrophy was significantly reduced in the sitting and supine positions on day 60 after surgery. Saccharin transit times decreased significantly on day 60 compared with preoperative measurements. Ciliary beat frequency, measured in vitro in nasal epithelial cells sampled from the inferior turbinate by brushing, was not significantly different before surgery and on day 60 after surgery. In the same samples, ciliated cells were the most abundant epithelial cell type before and after surgery, although in five cases, moderate numbers of squamous cells were detected on either day 7 or day 60 after surgery.Conclusion: Radiofrequency is a safe surgical procedure capable of reducing turbinate volume without altering the nasal mucosa, and causing minimal discomfort for the patient