Mandibuloacral dysplasia syndromes are mainly due to recessive LMNA or ZMPSTE24 mutations, with cardinal nuclear morphological abnormalities and dysfunction. We report five homozygous null mutations ...in MTX2, encoding Metaxin-2 (MTX2), an outer mitochondrial membrane protein, in patients presenting with a severe laminopathy-like mandibuloacral dysplasia characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis and severe hypertension. Loss of MTX2 in patients' primary fibroblasts leads to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts are resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Interestingly, secondary nuclear morphological defects are observed in both MTX2-mutant fibroblasts and mtx-2-depleted C. elegans. We thus report the identification of a severe premature aging syndrome revealing an unsuspected link between mitochondrial composition and function and nuclear morphology, establishing a pathophysiological link with premature aging laminopathies and likely explaining common clinical features.
To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France.
Cross-sectional national survey.
Paediatric ...CPAP/NIV teams of 28 tertiary university hospitals in France.
Children aged <20 years treated with CPAP/NIV since at least 3 months on June 1st, 2019.
An anonymous questionnaire was filled in for every patient.
The data of 1447 patients (60% boys), mean age 9.8 ± 5.8 years were analysed. The most frequent underlying disorders were: upper airway obstruction (46%), neuromuscular disease (28%), disorder of the central nervous system (13%), cardiorespiratory disorder (7%), and congenital bone disease (4%). Forty-five percent of the patients were treated with CPAP and 55% with NIV. Treatment was initiated electively for 92% of children, while 8% started during an acute illness. A poly(somno)graphy (P(S)G) was performed prior to treatment initiation in 26%, 36% had a P(S)G with transcutaneous carbon dioxide monitoring (PtcCO2), while 23% had only a pulse oximetry (SpO2) with PtcCO2 recording. The decision of CPAP/NIV initiation during an elective setting was based on the apnea-hypopnea index (AHI) in 41% of patients, SpO2 and PtcCO2 in 25% of patients, and AHI with PtcCO2 in 25% of patients. Objective adherence was excellent with a mean use of 7.6 ± 3.2 h/night. Duration of CPAP/NIV was 2.7 ± 2.9 years at the time of the survey.
This survey shows the large number of children treated with long term CPAP/NIV in France with numerous children having disorders other than neuromuscular diseases.
•1447 children were treated with long term CPAP or NIV in France on June 2019.•The number of children treated with CPAP or NIV in France has increased 14-fold between 2000 and 2019.•The most frequent disorders were upper airway obstruction (46%) and neuromuscular disease (28%).•45% of the children were treated with CPAP and 55% with NIV.
Rationale
The use of long‐term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders.
...Objective
The aim of this study was to describe the characteristics of children with CNS disorders treated with long‐term noninvasive respiratory support in France.
Methods
Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019.
Main Results
The data of 182 patients (55% boys, median age: 10.2 5.4;14.8 years old range: 0.3–25) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 6;10 hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients.
Conclusion
CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.
Aim
The aims of the study are to evaluate the impact of a 4% chlorhexidine (CHG4%) bathing on the occurrence of central‐line‐associated bloodstream infection (CLABSI) and to identify risk factors ...(RFs) for CLABSI in our population. This is a retrospective monocentric cohort study in the paediatric surgical intensive care unit at the Necker Enfants Malades Hospital, Paris, France.
Methods
All hospitalised patients with central venous catheters (CVCs) in 2015 were included. CHG4% bathing was prescribed in CLABSI high‐risk patients, defined by the presence of exposition factors (EFs): constitutive or acquired immunosuppression, presence of an invasive medical device (IMD) and the carriage of Staphylococcus aureus. The overall 2015 CLABSI incidence rate was compared with 2014 CLABSI incidence rate (before CHG4% bathing).
Results
In all, 775 patients were analysed. Some 182 had at least one EF, and 49 received CHG4%. The incidence rates of CLABSI in 2014 and 2015 were, respectively, 6.1 and 2.3/1000 days CVC (P < 0.01). The presence of at least one EF was associated with the CLABSI's occurrence: odds ratio = 15.13 (95% confidence interval: 4.26–53.71; P < 0.0001), particularly acquired immunosuppression, IMD and S. aureus colonisation. Other RFs were age <1 year and carrying duration >16 days.
Conclusions
This study showed a significant reduction in incidence of CLABSI after introduction of a targeted CHG4% bathing protocol. Presence of IMD, S. aureus colonisation, immunosuppression, age <1 year and carrying duration >16 days were CLABSI RFs. Regarding the literature, the presence of IMD seems to be underestimated in CLABSI prevention.
•In 2019, 387 children were treated at home with noninvasive ventilation in France.•Most children had spinal muscular atrophy or congenital myopathy/dystrophy.•Ninety-four percent of children were ...treated with noninvasive ventilation.•Treatment was initiated electively for 85% of children.•Mean objective noninvasive ventilation use was 8.0 ± 3.1 h/night.
The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases. Ninety-four percent of patients were treated with long term noninvasive ventilation and 6% with continuous positive airway pressure. Treatment was initiated electively for 85% of patients, mainly on an abnormal overnight gas exchange recording (38% of patients). Noninvasive ventilation/continuous positive airway pressure was initiated during a respiratory exacerbation in 15% of patients. Mean duration of noninvasive ventilation/continuous positive airway pressure was 3.3 ± 3.1 years. Mean objective long term noninvasive ventilation/continuous positive airway pressure use was 8.0 ± 3.1 h/24. Spinal muscular atrophy, congenital myopathy/dystrophy, and Duchenne muscular dystrophy represented 83% of children with neuromuscular diseases treated with long term noninvasive ventilation in France. Screening for nocturnal hypoventilation was satisfactory as noninvasive ventilation /continuous positive airway pressure was predominantly initiated electively.
Aminosilicone Solvents for CO2 Capture Perry, Robert J.; Grocela-Rocha, Teresa A.; O'Brien, Michael J. ...
ChemSusChem,
August 23, 2010, Volume:
3, Issue:
8
Journal Article
Peer reviewed
This work describes the first report of the use of an aminosilicone solvent mix for the capture of CO2. To maintain a liquid state, a hydroxyether co‐solvent was employed which allowed enhanced ...physisorption of CO2 in the solvent mixture. Regeneration of the capture solvent system was demonstrated over 6 cycles and absorption isotherms indicate a 25–50 % increase in dynamic CO2 capacity over 30 % MEA. In addition, proof of concept for continuous CO2 absorption was verified. Additionally, modeling to predict heats of reaction of aminosilicone solvents with CO2 was in good agreement with experimental results.
The use of an aminosilicone solvent mix for the CO2 capture is described for the first time. To maintain a liquid state, a hydroxyether co‐solvent is employed, enhancing physisorption of CO2. Regeneration of the capture solvent system is demonstrated over 6 cycles and absorption isotherms indicate a 25‐50 % increase in dynamic CO2 capacity over 30 % MEA. In addition, a proof‐of‐concept for continuous CO2 absorption is verified.
Aminosilicone solvents for CO(2) capture Perry, Robert J; Grocela-Rocha, Teresa A; O'Brien, Michael J ...
ChemSusChem,
2010-Aug-23, 20100823, Volume:
3, Issue:
8
Journal Article
Peer reviewed
This work describes the first report of the use of an aminosilicone solvent mix for the capture of CO(2). To maintain a liquid state, a hydroxyether co-solvent was employed which allowed enhanced ...physisorption of CO(2) in the solvent mixture. Regeneration of the capture solvent system was demonstrated over 6 cycles and absorption isotherms indicate a 25-50 % increase in dynamic CO(2) capacity over 30 % MEA. In addition, proof of concept for continuous CO(2) absorption was verified. Additionally, modeling to predict heats of reaction of aminosilicone solvents with CO(2) was in good agreement with experimental results.
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