The Necker–Enfants Malades Hospital (French: Hôpital Necker-Enfants Malades [opital nɛkɛʁ ɑ̃fɑ̃ malad]) is a French teaching hospital in the 15th arrondissement of Paris. It is a hospital of the Assistance Publique – Hôpitaux de Paris group and is affiliated to the University of Paris Descartes. Necker–Enfants Malades Hospital was created in 1920 by the merger of Necker Hospital (Hôpital Necker), which was founded in 1778 by Suzanne Necker, with the physically contiguous Sick Children's Hospital (Hôpital des Enfants Malades), the oldest children's hospital in the Western world, founded in 1801.
Infants with Robin sequence (RS) are at high risk for obstructive sleep apnea (OSA), but screening with poly(somno)graphy (P(S)G) is challenging. The aim of the study was to assess the relationships between different pulse oximetry (SpO2) parameters and the mixed obstructive apnea–hypopnea index (MOAHI) in these infants. We also compared the findings to infants having other comorbidities (OSA-III). Different SpO2 parameters were correlated with MOAHI in infants with RS and with OSA-III having similar OSA severity. The SpO2 parameters were also compared between the 2 groups. Half of the infants with RS had nap studies. Mean MOAHI did not differ significantly between the 2 groups, and the proportion of infants with MOAHI > 10 events/h or ≥ 3
RATIONALE:Although advances in care have improved cystic fibrosis (CF) outcomes in high-income countries (HICs), the situation remains alarming in low-income countries (LICs). OBJECTIVES:To assess differences in key disease indicators among people with CF (pwCF) based on the socioeconomic status of their country between 2012 and 2022 to suggest practical interventions and evaluate effect of introduction of CFTR modulators on survival. METHODS:People with CF (pwCF) enrolled in the European Cystic Fibrosis Society Patient Registry (ECFSPR) and carrying at least one F508del variant allele were evaluated in 2017 and in 2022 for percent predicted forced expiratory volume in 1 second (ppFEV1), underweight status, and chronic Pseudomonas aeruginosa (PsA) infection, according to the gross national income per capita divided into 3 terciles (LICs, middle-income countries [MICs], and HICs). Survival was evaluated in the periods 2013-2017 and 2018-2022. Generalized linear models and Cox regression models were fitted. RESULTS:From the 31 723 pwCF reported in ECFSPR in 2022, 13.5% lived in LICs, 19.9% in MICs, and 66.6% in HICs. PwCF living in LICs had a significantly lower median survival age, reduced ppFEV1, and higher prevalence of PsA infection and underweight status compared with pwCF from MICs and HICs. Data modeling indicated that avoiding underweight status and PsA infection would increase survival by 42 years for pwCF living in LICs. Access to cystic fibrosis transmembrane conductance regulator (CFTR) modulators would further increase their survival by 15 to 29 years depending on their nutrition and infection status, resulting in a survival up to 82 years in the best-case scenario. CONCLUSIONS:Access to CFTR modulators equalizes survival between LICs and HICs within Europe. Optimizing care practices and social determinants of health remains crucial in LICs.
BACKGROUND:Focused abbreviated survey technique (FAST) brain magnetic resonance imaging (MRI) (i.e., sedation-free abbreviated MRI) is progressively being implemented in the daily clinical practice of multiple pediatric institutions for neuroimaging assessment of children presenting with neurological disorders. OBJECTIVE:To survey current awareness, imaging practices, and perception of members of the European Society of Pediatric Radiology (ESPR) regarding pediatric FAST brain MRI. MATERIALS AND METHODS:A survey consisting of seven questions related to FAST brain MRI was distributed electronically to all ESPR members. RESULTS:A total of 64 responses from 27 different countries (17 of which were European) were received, corresponding to a 4% response rate. Among responders, 68% were full-time pediatric radiologists and the great majority (94%) were aware of current clinical use of FAST brain MRI in the pediatric setting. Moreover, 83% already apply this imaging approach in daily work activity, more commonly for a few years (85%). The most cited advantage for adopting this imaging approach was radiation risk reduction (95%). Major reported obstacles to routine implementation were technical/human resource limitations (63%), potential medicolegal implications (55%), and lower image quality reducing diagnostic accuracy (53%). Diverse protocols are used, including utilization of inhouse/custom developed solutions (68%) or one of multiple commercially available/published protocols (17%), or both (15%). Near all participants (97%) expressed desire for formal consensus recommendations from the ESPR on the topic. CONCLUSION:Despite widespread knowledge and high clinical adoption rate of pediatric FAST brain MRI among participants, clinical indications/protocols remain variable and some barriers persist in the daily practice, highlighting the need for evidence-based consensus-driven guidelines.
Telomere-related gene (TRG) pathogenic variants are detected in ∼30% of familial pulmonary fibrosis (PF) cases. Danazol, a synthetic sex hormone with androgenic properties, has been found associated with telomere elongation and hematologic response in patients with short telomeres. The objective of the ANDROTELO multicenter, prospective, open-label single-arm phase II clinical trial ( NCT03710356 ) was to evaluate the efficacy and safety of danazol in carriers of TRG mutations with PF or bone-marrow failure (BMF).Included patients were carriers of a pathogenic or likely pathogenic TRG variant and presented a PF lung involving ≥10% parenchymal involvement on chest CT (PF group) and/or severe BMF (BMF group). Treatment was danazol 400 mg twice a day for 12 months. We included 25 patients with PF (16 males) and 5 with BMF (2 males). One PF patient withdrew consent. At inclusion, the median age in the PF group was 62.5 years, FVC 69% (interquartile range 40;120) and DLCO 44% (29;84). Ten of 24 PF patients (42%) completed the 12-month treatment. Causes of premature treatment discontinuation were side effects (n=9), death (n=3), lung transplantation (n=1), and disease progression (n=1). Fourteen PF patients were evaluated at month 12: 8 showed a relative decline of FVC of <5%. The median relative decrease in FVC and DLCO was −10% (interquartile range −14;−2) and −10.3% (−22.7;4.2). The 5 patients in the BMF group completed the 12-month treatment and exhibited at least partial response. Danazol was poorly tolerated in patients with TRG-related PF in this study, thus precluding efficacy assessment.
The treatment of upper airway obstruction in newborns with Robin sequence (RS) is challenging. We report our experience implementing the minimally invasive Tübingen palatal plate in a pediatric tertiary care center, detailing a step-by-step protocol and clinical outcomes from our first patient series. Despite a learning curve and need for multidisciplinary coordination, the palatal plate can be safely and effectively integrated outside its center of origin.
