Jean Bergounioux

Assistance Publique – Hôpitaux de Paris | AP-HP

Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or regression in psychomotor development and significant cognitive and motor sequelae. One promising a...

Background Acute lower respiratory infections in children under 5 years present a real challenge for diagnosis and treatment and are the first cause of mortality for this group of age. The study aimed to describe the characteristics of infectious acute respiratory failure due to bronchiolitis, pulmonary infection or severe acute asthma related to a...

Aim Acute lower respiratory infections in children under five years old present a real challenge for diagnosis and treatment and a leading cause of mortality. The study aimed to describe this population at admission to the pediatric intensive care unit and during hospitalization to better identify their needs. Secondary outcomes consisted of compar...

Objective The aim of the study was to describe the characteristics of otherwise healthy children with obstructive sleep apnea (OSA; OSA-I) and children with OSA and obesity (OSA-II) treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in 2019 in France. Design National cross-sectional survey. Patients C...

Purpose Every year between November and January, the epidemic of acute viral bronchiolitis causes massive admissions to pediatric intensive care units. One of the challenges is to identify infants who will require invasive ventilation or have a prolonged length of stay in intensive care units. Methods We conducted a multicenter retrospective study...

This case-control study uses computer vision and artificial intelligence to develop a screening tool for detecting spinal muscular atrophy in infants.

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 sup...

IntroductionEarly-onset scoliosis is a common deformity in neuromuscular disease. When conservative treatment becomes ineffective, several surgical options can be proposed. The most common technique is posterior spinal fusion (PSF) consisting of performing a multiple segmental instrumentation with pedicular screws on the full spine associated with...

Home mechanical ventilation is classically used to treat neuromuscular patients with chronic respiratory insufficiency. Since the heart and lungs are localized in the thorax, intrathoracic pressure may directly affect heart function. Here, we report the direct cyclic effects of mechanical ventilation on the right and left ventricular systolic and d...

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...

Patients with neuromuscular diseases are at high risk for respiratory complications during their disease. For more than 50 years now, mechanical ventilation has proven to be a major treatment for neuromuscular disorders with respiratory failure. Early detection of respiratory dysfunction is vital, and a multidisciplinary approach must be adopted in...

PurposeChoosing the right tracheal tube for the right patient is a daily preoccupation for intensivists and emergency physicians. Tracheal tubes can generate severe complications, which are chiefly due to the pressures applied by the tube to the trachea. We designed a bench study to assess the frequency of pressure levels likely to cause tracheal i...

In cardiac surgery, patients are at risk of phrenic nerve injury, which leads to diaphragm dysfunction and acute respiratory failure. Diaphragm dysfunction (DD) is relatively frequent in cardiac surgery and particularly affects patients after coronary artery bypass graft. The onset of DD affects patients’ prognosis in term of weaning from mechanica...

Introduction/aims: Respiratory status is a key determinant of prognosis in patients with Duchenne muscular dystrophy (DMD). We aimed to evaluate the determinants of diaphragm ultrasound and its performance in predicting restrictive respiratory patterns in DMD. Methods: This was a retrospective study of DMD patients followed in our center and adm...

Background: Treatment of spinal muscular atrophy (SMA) scoliosis has evolved in the last decade, with the emergence of fusionless surgical techniques that allow correction of the deformity before the end of growth spurt. These techniques are expected to delay definitive spine fusion and preserve trunk growth. Purpose: The aim was to evaluate lon...

Resumen La púrpura fulminante sigue siendo una de las mayores urgencias en pediatría (fulgur: rayo). Se trata de un choque séptico asociado a una púrpura con tendencia a extenderse que complica una sepsis meningocócica. Más del 70% de las muertes se producen en las primeras 24 horas. La rapidez y la agresividad del tratamiento inicial son, hasta la...

Objectives: To describe and estimate the mortality rate of severe influenza-associated encephalopathy/encephalitis among children admitted to PICUs. Design: Multicenter retrospective study. Setting: Twelve French PICUs. Patients: All children admitted for influenza-associated encephalopathy/encephalitis between 2010 and 2018 with no severe p...

Objectives: To describe the profile and clinical outcomes of children (<18 yr) admitted to intensive care for acute alcohol intoxication, with special attention to complications and to the subgroup that required intubation. Design: Retrospective observational study. Setting: Seven pediatric and three adult ICUs in France. Patients: Children...

Objective To describe the characteristics of children treated with long term continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in France. Design Cross-sectional national survey. Setting Paediatric CPAP/NIV teams of 28 tertiary university hospitals in France. Patients Children aged <20 years treated with CPAP/NIV since a...

Postmalaria neurologic syndrome is an under-recognized self-resolving acute neuropsychiatric condition, usually occurring after complete recovery from malaria. We describe the case of a 7-year-old child who presented with an afebrile lymphocytic meningoencephalitis. The notion of a previously treated malaria episode and the absence of malaria durin...

Monitoring vital signs of neonates can be harmful and lead to developmental troubles. Ballistocardiography, a contactless heart rate monitoring method, has the potential to reduce this monitoring pain. However, signal processing is uneasy due to noise, inherent physiological variability and artifacts (e.g. respiratory amplitude modulation and body...

Ballistocardiography (BCG), a contactless heart rate monitoring method, has the potential to measure vital signs and reduce neonates' monitoring pain and discomfort. It uses an accelerometer on the mattress side. However, the bedding and bed frame nature may alter the propagation of the ejection force to the sensor, especially in case of viscous fo...

Ballistocardiography (BCG), a contactless heart rate monitoring method, has the potential to measure vital signs and reduce neonates’ monitoring pain and discomfort. It uses an accelerometer on the mattress side. As the signal amplitude is very low, the front-end circuit needs a high amplifier gain and thus is very sensitive to baseline wander and...

Acute flaccid myelitis (AFM) is an acute paralysis syndrome defined by a specific inflammation of the anterior horn cells of the spinal cord. From 2014, worrying waves of life-threatening AFM consecutive to enterovirus infection (EV-D68 and EV-A71) have been reported. We describe 10 children displaying an AFM with an EV infection, the treatments pe...

Over the past 10 years, continuous positive airway pressure (CPAP) has revolutionized the prognosis and management of bronchiolitis patients hospitalized in pediatric intensive care units (PICUs). High-flow nasal cannula (HFNC) is emerging as an alternative to CPAP. Despite encouraging results of several clinical and physiological studies, HFNC use...

The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy-associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe acute heart failure triggered by pn...

Tracheostomy can be associated with major complications at any stage of the procedure. Early complications include hemorrhage, embolisms, pneumothorax, pneumomediastinum, air embolism, and death.¹,2 Late complications are also frequent, such as granuloma, pain, acute obstruction, tracheoinnominate artery fistula, and death.³,4 Until now, vertebral...

Purpose High-flow nasal cannula (HFNC) therapy is increasingly proposed as first-line respiratory support for infants with acute viral bronchiolitis (AVB). Most teams use 2 L/kg/min, but no study compared different flow rates in this setting. We hypothesized that 3 L/kg/min would be more efficient for the initial management of these patients. Meth...

The longer survival of patients with Duchenne muscular dystrophy due to advances in clinical care has increased the incidence of Duchenne muscular dystrophy -associated cardiomyopathy, a nearly consistent feature in the third decade of life. A 26-year-old patient with Duchenne muscular dystrophy experienced severe acute heart failure triggered by p...

Background: Meningococcal septic shock is associated with profound vasoplegia, early and severe myocardial dysfunction and extended skin necrosis responsible for a specific clinical entity designated Purpura fulminans (PF). PF represents 90% of fatal meningococcal infections. One characteristic of meningococcal PF is the myocardial dysfunction tha...

La porpora fulminante rimane una delle urgenze maggiori in pediatria (fulgur: il lampo). Si tratta di uno shock settico associato a una vasta porpora che complica la setticemia meningococcica. Oltre il 70% dei decessi avviene nelle prime 24 ore. La velocità e l’aggressività del trattamento iniziale sono, a oggi, gli unici elementi che hanno ridotto...

Table of contents: PHYSICIANS ABSTRACTSO1 Impact of tracheal cuff shape on microaspiration of gastric contents in intubated critically ill patients: a multicenter randomized controlled study (BEST CUFF)Emmanuelle Jaillette, Christophe Girault, Guillaume Brunin, Farid Zerimech, Arnaud Chiche, Céline Broucqsault-Dedrie, Cyril Fayolle, Franck Minacor...

Introduction: We sought to define the whole-body MRI (WB-MRI) fingerprint of muscle involvement in pediatric LMNA-related dystrophy (LMNA-RD) and to compare it with SEPN1-related myopathy (SEPN1-RM). Methods: Signal abnormality and atrophy in 109 muscles were scored by semiquantitative scales in 8 children with LMNA-RD and represented by heatmap...

During the 2009/10 pandemic, a national surveillance system for severe influenza cases was set up in France. We present results from the system's first four years. All severe influenza cases admitted to intensive care units (ICU) were reported to the Institut de Veille Sanitaire using a standardised form: data on demographics, immunisation and viro...

Soft infant carriers such as slings have become extremely popular in the west and are usually considered safe. We report 19 cases of sudden unexpected death in infancy (SUDI) linked to infant carrier. Most patients were healthy full-term babies less than 3 months of age, and suffocation was the most frequent cause of death. Infant carriers represen...

Introduction Carbon monoxide poisoning remains a threat for children. Clinical severity and presentation of carbon monoxide (CO) poisoning are dependent of COHb level. Our aim was to describe the children hospitalised in our department for CO poisoning and to compare HbCO level to clinicaly reported symptoms. Methods We are a secondary care centre...

Enteroviruses are single-stranded RNA viruses of the picornavirus family. In the neonatal period, enterovirus can cause severe meningo-encephalitis, sepsis syndrome, hepatitis, or myocarditis. Neonatal enterovirus myocarditis remains a rare but severe cause of neonatal cardiac failure whose prognosis remains poor. Herein, we report the case of neon...

Idiopathic acute eosinophilic pneumonia (IAEP) is characterized by febrile hypoxic respiratory failure with diffuse radiographic infiltrates and peripheral and pulmonary eosinophilia in a previously healthy child. Diagnosis is by exclusion, but promptness is imperative, as IAEP can lead to life-threatening acute lung injury and acute respiratory di...

Kawasaki disease is an acute vasculitis, that has a classic complication of acquired coronary artery aneurysm. Severe forms with multi-organ involvement or neurological dysfunction are rare. Cerebral vascular involvement has been related to large-vessel injury or cardioembolism, leading to focal brain infarction. A 4-year-old female presented with...

Introduction Although rare, salicylate intoxication through the skin should not be ignored as it can be severely life-threatening. We describe an original case of accidental poisoning with salicylates topically applied to the scalp of a 6-week-old infant. Clinical report A 6-week-old infant, with no prior history, was admitted to the pediatric int...

INTRODUCTION: Although rare, salicylate intoxication through the skin should not be ignored as it can be severely life-threatening. We describe an original case of accidental poisoning with salicylates topically applied to the scalp of a 6-week-old infant. CLINICAL REPORT: A 6-week-old infant, with no prior history, was admitted to the pediatric in...

The authors present a child affected with diaphragmatic paralysis in the early neonatal period. Although no electroneuromyographic abnormalities were reported, the patient developed dramatic motor and respiratory impairment with impossibility to wean from mechanical ventilation. Repeated electroneuromyographic study at age 4 months revealed severe...

Little information is available on the characteristics of infants hospitalized for acute bronchiolitis in France. An analysis of hospital records (PMSI) was conducted at the national level to describe the cases of bronchiolitis that require hospitalization among infants under 1 year of age and the factors associated with death. The analysis of all...

Little information is available on the characteristics of infants hospitalized for acute bronchiolitis in France. An analysis of hospital records (PMSI) was conducted at the national level to describe the cases of bronchiolitis that require hospitalization among infants under 1 year of age and the factors associated with death. The analysis of all...

We report 2 cases of fatal rhabdomyolysis in children carrying an LPIN1 mutations preceded by similar electrocardiogram changes, including diffuse symmetrical high-amplitude T waves. Our report underlines the severity of this disease and the need for active management of episodes of rhabdomyolysis in a pediatric intensive care unit.

The enteropathogen Shigella flexneri invades epithelial cells, leading to inflammation and tissue destruction. We report that Shigella infection of epithelial cells induces an early genotoxic stress, but the resulting p53 response and cell death are impaired due to the bacterium's ability to promote p53 degradation, mainly through calpain protease...

Acute necrotizing pneumonia due to Panton-Valentine secreting Staphylococcus aureus was identified as a clinical entity by Gilet et al., in 2002. This severe acute necrotizing pneumonia occurring in previously healthy children and adolescents can lead to a rapid fatal outcome even if quickly diagnosed and treated. We report the case of a healthy 10...

Acute necrotizing pneumonia due to Panton-Valentine secreting Staphylococcus aureus was identified as a clinical entity by Gilet et al., in 2002. This severe acute necrotizing pneumonia occurring in previously healthy children and adolescents can lead to a rapid fatal outcome even if quickly diagnosed and treated. We report the case of a healthy 10...

Le purpura fulminans (PF) demeure l’une des plus grandes urgences de la pédiatrie (fulgur : la foudre). Il s’agit d’un choc septique associé à un purpura extensif compliquant une septicémie à meningocoque. Plus de 70 % des décès ont lieu dans les premières 24 heures. La rapidité et l’agressivité de la prise en charge initiale sont à ce jour les seu...

To analyze the medical practices and the end-of-life care provided to children admitted to pediatric intensive care units in different parts of the globe. Articles on end-of-life care published during the last 20 years were selected from the PubMed, MEDLINE and LILACS databases, with emphasis on studies of death in pediatric intensive care units in...

OBJECTIVE: To analyze the medical practices and the end-of-life care provided to children admitted to pediatric intensive care units in different parts of the globe. SOURCES: Articles on end-of-life care published during the last 20 years were selected from the PubMed, MEDLINE and LILACS databases, with emphasis on studies of death in pediatric int...

We have characterized three novel epsilon gamma delta beta-thalassaemia deletions in three English families. Two of the deletions, 114 and 439 kb, removed the entire beta-globin gene complex, including a variable number of flanking olfactory receptor (HOR) genes. The 98-kb deletion extended 90-kb upstream of the epsilon gene to 8 kb upstream of the...

The thalassemias are inherited disorders classified genetically into α, β, γ, δβ, δ and εγδβ varieties according to the type of globin(s) that are underproduced. At the molecular level, the εγδβ thalassemias fall into two categories; Group I removes all, or a greater part, of the β globin gene cluster which is embedded in an array of olfactory rece...

Heterocellular hereditary persistence of fetal hemoglobin (HPFH) is a common multifactorial trait characterized by a modest increase of fetal hemoglobin levels in adults. We previously localized a Quantitative Trait Locus for HPFH in an extensive Asian-Indian kindred to chromosome 6q23. As part of the strategy of positional cloning and a means towa...

Table 4. Primers used for testing expression of conserved regions from comparative genomic analysis.

Table 3. Table showing NCBI accession numbers of ESTs ordered and sequenced from the IMAGE consortium.

Figure 5. PIP-plot of the candidate interval, annotated with the positions of genes and repetitive sequences, and overlaid with a summary of the experimental results. Pips which were found to be experimentally expressed are highlighted by green bars, weak positives are indicated by blue bars and negative pips are highlighted by red bars. Results of...

We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, a...

We describe a novel deletion causing (εγδβ)° thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the ε gene to 31 kb downstream of the β gene, and includes the entire β-globin g...