Cystic fibrosis is a severe monogenic disease that affects around 7400 patients in France. More than 2100 mutations in the cystic fibrosis conductance transmembrane regulator (CFTR), the gene ...encoding for an epithelial ion channel that normally transports chloride and bicarbonate, lead to mucus dehydration and impaired bronchial clearance. Systematic neonatal screening in France since 2002 has enabled early diagnosis of cystic fibrosis. Although highly demanding, supportive treatments including daily chest physiotherapy, inhaled aerosol therapy, frequent antibiotic courses, nutritional and pancreatic extracts have improved the prognosis. Median age at death is now beyond 30 years. Ivacaftor was the first CFTR modulator found to both reduce sweat chloride concentration and improve pulmonary function in the rare CFTR gating mutations. Combinations of modulators such as lumacaftor + ivacaftor or tezacaftor + ivacaftor were found to improve pulmonary function both in patients homozygous for the F508del mutation characterized by the lack of CFTR protein and those heterozygous for F508del with minimal CFTR activity. The triple combination of ivacaftor + tezacaftor + elexacaftor was recently shown to significantly improve pulmonary function and quality of life, to normalize sweat chloride concentration, and to reduce the need for antibiotic therapy in patients with at least one F508del mutation (83% in France). These impressive data, however, need to be confirmed in the long term. Nevertheless, it is encouraging to hear treated patients testify about their markedly improved quality of life and to observe that the number of lung transplants for cystic fibrosis decreased dramatically in France after 2020, despite the COVID pandemic, with no increase in deaths without lung transplant.
Children and screens: A survey by French pediatricians Assathiany, R.; Guery, E.; Caron, F.M. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
February 2018, 2018-Feb, 2018-02-00, 20180201, Letnik:
25, Številka:
2
Journal Article
Recenzirano
Screens are increasingly prevalent within families. The excessive use of screens by children has negative consequences. To measure the use of screens, we undertook an investigation among children ...being followed by pediatricians.
An invitation to participate was sent electronically to 1460 private practice pediatricians. They were asked to complete the questionnaire on screen use by children under 12 years of age during a consultation, according to statements made by parents.
One hundred and forty-four pediatricians submitted completed questionnaires involving 428 children. Among the 197 children under 3 years of age, 92 had played with an interactive screen for a median duration of 30min during the preceding week; 29% of the children were alone at the time. One hundred and thirty-nine children had watched television for a median weekly duration of 75min. Of the 231 children 3–11 years of age, 108 had played with an interactive screen for a median time of 30min the day before the consultation, and 50% of them were alone at the time. One hundred and seventy-two children watched television for a median daily duration of 45min. There was a correlation between these children's screen time and their mother's (r=0.36). The television was on during meals and continuously in 35% and 21% of the families, respectively.
Children start looking at screens early, too often watching unsuitable programs, and too often without a parent's present. Regardless of the child's age, pediatricians must ask parents how much time their children are viewing screens, advise them accordingly, and warn them of the consequences of excessive use.
The Groupe de Pédiatrie Générale (General Pediatrics Group), a member of the Société française de pédiatrie (French Pediatrics Society), has proposed guidelines for families and doctors regarding ...children's use of digital screens. A number of guidelines have already been published, in particular by the French Academy of Sciences in 2013 and the American Academy of Pediatrics in 2016. These new guidelines were preceded by an investigation into the location of digital screen use by young children in France, a survey of medical concerns on the misuse of digital devices, and a review of their documented benefits. The Conseil Supérieur de l’Audiovisuel (Higher Council on Audiovisual Technology) and the Union Nationale de Associations Familiales (National Union of Family Associations) have taken part in the preparation of this document. Five simple messages are proposed: understanding without demonizing; screen use in common living areas, but not in bedrooms; preserve time with no digital devices (morning, meals, sleep, etc.); provide parental guidance for screen use; and prevent social isolation.
Abstract Backgrounds Recent reports have pointed the low vaccine coverage in patients with chronic diseases. Data are lacking in patients with cystic fibrosis (CF). Gaining more information on ...coverage both for mandatory vaccines and those more specifically recommended would help to optimize care of these patients. Methods Data were extracted from the “MucoFlu” study, which was a prospective study performed in 2009 in the 5 cystic fibrosis centers of the Paris metropolitan area. Data on mandatory and recommended vaccines in CF were collected in the health booklet and compared to the coverage of the general population. Results A total of 134 CF children were included. Vaccination coverage for mandatory vaccines was insufficient (DTPCaHi, conjugate pneumococcal, BCG, MMR and hepatitis B) at 1 year of age with no catching-up with age in contrast to the general population. Approximately 66% of the children had immunization for seasonal influenza and 91% for 2009 pandemic flu. Coverage for vaccines specifically recommended in CF was low for hepatitis A, non conjugate pneumococcal and varicella. Conclusion This study shows a defect in vaccine coverage for both routine immunization and vaccines more specifically recommended in CF.
The hospital of Versailles no longer has a dermatologist; consequently the pediatrics department suggested assess to the system put in place in 2015 based on the telemedicine software platform WebDCR ...developed throughout the hospital. The acceptability of this was based on its implementation as well as speed and ease of use.
In 2015, 47 reviews were submitted.
No patient refusal was noted. The answer was obtained in 100 % of cases on the day the requests were made, during the week. A diagnosis was made in 36 % of cases and one or more hypotheses were formulated in the 64 % of the remaining cases. The review resulted in a further consultation in 28 % of cases, and in one case to transfer to the dermatology department. The quality of the data collected was considered good or excellent in 96 % of cases.
This first teledermatology experiment seems to show its utility in terms of the services provided. Given the successful deployment of the system, it was extended to the pediatric emergency department. The response time was reduced to 1h.
This first teledermatology experiment seems to show its real value in terms of services rendered. However, it is necessary to have more experience to confirm the contribution of this tool, and to reassess the sustainability and economic relevance of the device.
Teledermatology is currently booming. Due to the shortage of dermatologists in hospitals access to dermatological consultations is very limited in some hospitals. We present our experience of ...collaboration between an expert center, the dermatology department of the Victor-Dupouy Hospital Centre in Argenteuil, and all medical structures under the André-Mignot Hospital in Versailles (CHV), including 2 prison medical centers (UCSA), traditional departments and emergency department.
Teledermatology, developed in the form of tele-expertise, began at the UCSA in November 2013. This expertise was then extended in June 2014 to the Internal Medicine department of CHV, and in December 2014 to all departments, including the emergency department. The rules and ethics of teledermatology were strictly adhered to. While UCSA could file all expertise dossiers, only urgent or difficult cases could be filed by other CHV departments.
In 26 months, 347 expertise requests were filed: 231 by prisons and 116 by the other departments of the CHV. No patients refused teledermatology. The quality of information and photographs was considered good or excellent in over 95% of cases. A response was given within 3hours in more than 50% of cases and in all cases within 24hours (on working days). Analysis of diseases diagnosed illustrates the wide variety of conditions encountered in dermatology, with different structures having their own specific features.
Our example illustrates the possibility of developing such an inter-hospital platform. However, it does not yet cater for requests made by patients to dermatologists, by dermatologists to dermatologists, or by dermatologists to the hospital teledermatology department. Acceptability was considered excellent by patients (with no refusals), physicians at the CHV, and the expert center.
La mucoviscidose est une maladie monogénique affectant environ 7300 patients en France. Plus de 2000 mutations dans le gène CFTR, le gène codant pour un canal épithélial qui transporte les ions ...chlorure et bicarbonate, conduisent à la production d’un mucus déshydraté et visqueux qui altère les fonctions respiratoire et pancréatique. Le dépistage néonatal est systématique en France depuis 2002. Bien que très contraignants, les traitements symptomatiques ont permis d’améliorer l’âge médian au décès au-delà de 30 ans. L’ivacaftor, un potentiateur de la fonction CFTR, a été le premier à faire la preuve d’une amélioration nette des symptômes chez de rares patients porteurs d’une mutation dite gating altérant l’ouverture fonctionnelle du canal CFTR. Puis ont été testées diverses combinaisons d’un potentiateur et de correcteurs de la protéine CFTR chez des patients homozygotes pour la mutation majoritaire F508del ou hétérozygotes F508del/mutation avec une activité résiduelle ou minimale, comme lumacaftor+ivacaftor ou tezacaftor+ivacaftor. Enfin, la triple association d’ivacaftor+tezacaftor+elexacaftor a permis de normaliser la teneur en chlorure sudoral, d’améliorer durablement la fonction respiratoire (VEMS), de diminuer les exacerbations pulmonaires et la consommation d’antibiotiques chez les patients homozygotes ou hétérozygotes composites pour la mutation F508del (83 % en France). Restent à démontrer leur efficacité sur la survie, la qualité de la vie et leur tolérance à long-terme. Il est encourageant d’entendre les patients témoigner de la transformation de leur qualité de vie et d’observer que le nombre annuel de transplantations pulmonaires pour mucoviscidose a spectaculairement diminué à partir de 2020, indépendamment de l’effet pandémie, sans augmentation des décès en l’absence de transplantation.
Cystic fibrosis is a severe monogenic disease that affects around 7300 patients in France. Mutations (>2000) in CFTR, the gene encoding for an epithelial ion channel that normally transports chloride and bicarbonate ions, lead to mucus dehydration and impaired bronchial clearance and pancreatic functions. Systematic neonatal screening in France has allowed early diagnosis since 2002. Although highly restrictive, supportive treatments including daily chest physiotherapy, inhaled aerosol therapy, frequent antibiotic courses, nutritional and pancreatic extracts have improved the prognosis. Median age at death is now beyond 30 years of age. Ivacaftor was the first CFTR potentiator found to both reduce sweat chloride concentrations and improve pulmonary function in the rare so-called CFTR gating mutations. Then, combinations of a potentiator and various correctors such as lumacaftor+ivacaftor or tezacaftor+ivacaftor were found to improve pulmonary function in both F508del homozygous patients characterized by the lack of CFTR protein and heterozygous F508del/mutation with residual CFTR activity. Finally, the triple association ivacaftor+tezacaftor+elexacaftor was recently shown to normalize sweat chloride concentration, significantly improve pulmonary function testing, reduce the need for antibiotic treatments, and ultimately improve the quality of life in patients with at least one F508del mutation (83% in France). Those impressive data need, however, to be confirmed in the long-term range. Nevertheless, it is encouraging to hear the treated patients testify to their markedly improved quality of life and observe that the annual number of lung transplants for cystic fibrosis dramatically decreased in France from 2020, regardless of the Covid pandemic, with no increase in deaths without lung transplant.
Varicella-zoster virus (VZV) is, like other alphaherpes viruses, neurotropic. Of the admissions to hospital for varicella, 7.6-25% are due to neurologic manifestations. Most of the time, the ...concomitant skin lesions facilitate the diagnosis. The justification of qualitative PCR (polymerase chain reaction) for VZV DNA in cerebrospinal fluid in the management of these patients is not clear. The aim of this study was to evaluate the prognostic value of qualitative PCR for VZV DNA in cerebrospinal fluid and to assess its impact on patient management. We conducted a retrospective monocentric study in Versailles Hospital (France). It included every child admitted for neurologic manifestations associated with varicella and compared the patients with positive PCR for VZV DNA to those with a negative PCR in the cerebrospinal fluid. Seven patients with positive PCR and 16 patients with negative PCR were included. The median age of the children included was 3 years (range, 1.6-12 years) and 2 years (range, 0.6-5 years), respectively. In the positive PCR group, 86% of the children had fever on first examination and the average time between the onset of skin lesions and neurological signs was +1.28 days (range, -2 to +5 days). In comparison, in the negative PCR group, 81% of the children had fever and the average time delay was +1.75 days (-2 to +7 days). There was no significant difference in terms of length of hospitalization; 3 days (range, 0-6 days) and 3 days (range, 2-7 days), respectively. All patients discharged from our department went home. In addition, there was no significant difference between the two groups in terms of treatment with acyclovir; two children (28.5%) were treated in the positive PCR group versus four (25%) in the negative PCR group. Our study showed no prognostic value for qualitative PCR for VZV DNA in the cerebrospinal fluid of patients with neurologic manifestations of varicella. Therefore, its relevance can be questioned in clinical practice. However, in case of encephalitis and meningitis during primary infection with VZV, quantitative PCR for VZV DNA might have a prognostic value and therefore requires further study.
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