142 results match your criteria: "University Hospital Necker-Enfants malades[Affiliation]"

Advances in digital medicine now make it possible to use digital twin systems (DTS), which combine (1) extensive patient monitoring through the use of multiple sensors and (2) personalized adaptation of patient care through the use of software. After the artificial pancreas system already operational in children with type 1 diabetes, new DTS could be developed for real-time monitoring and management of children with chronic diseases. Just as providing care for children is a specific discipline-pediatrics-because of their particular characteristics and needs, providing digital care for children also presents particular challenges.

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Two pediatric cases of multisystem inflammatory-like syndrome following COVID-19 vaccination.

Arch Pediatr

November 2022

Pediatric Intensive Care Unit, APHP University Hospital Necker-Enfants malades, Paris, France; Université de Paris, Paris, France.

Multisystem inflammatory syndrome in children (MIS-C) is a novel post-infectious disease occurring in the context of SARS-CoV2 infection. COVID-19 vaccines have been authorized since December 2020, and adverse events including myocarditis have been reported following vaccination. We describe the cases of two pediatric patients presenting with clinical and laboratory features suggestive of MIS-C a few days after receiving their first dose of the Pfizer BNT162b2 vaccine.

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Diagnosis, Management, and Treatment of Vernal Keratoconjunctivitis in Asia: Recommendations From the Management of Vernal Keratoconjunctivitis in Asia Expert Working Group.

Front Med (Lausanne)

August 2022

Department of Ophthalmology, University Hospital Necker-Enfants Malades, APHP, OPHTARA, Paris, France; INSERM Unit UMRS1138, Team 17, Paris University, Paris, France.

Vernal keratoconjunctivitis (VKC) is an underdiagnosed and underrecognized ocular surface disease with limited epidemiological data in Asia. It is more prevalent in warm, dry, and windy climates, and often has a substantial impact on a patient's quality of life. In rare cases, VKC can be associated with vision loss, either through corticosteroid overuse or inadequate treatment of persistent inflammation.

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Is the Choroid Plexus Needed?

Pediatr Neurosurg

December 2022

Department of Neurosurgery, Cedars-Sinai Medical Center, Los Angeles, California, USA.

Background: Choroid plexectomy was first performed around 1910. Later, the technique evolved into subtotal choroid plexus cauterization (CPC) but was largely abandoned following the invention of the ventriculoperitoneal shunt. Over time, with improved understanding of the pathophysiology of hydrocephalus and improvement in endoscopic techniques and equipment, the procedure of CPC was reintroduced.

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Community-acquired pneumonia is a common diagnosis in children. Among the many children whose symptoms and/or chest X-ray is consistent with community-acquired pneumonia, it can be difficult to distinguish the rare cases of differential diagnoses that require specific management. The aim of this educational article is to provide clinicians with a series of questions to ask themselves in order to detect a possible differential diagnosis of pneumonia in children.

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Aim: To compare paediatric patients with cerebral sinovenous thrombosis (CSVT) with and without head/neck infection to improve management of the condition.

Method: We conducted a bicentric retrospective study of consecutive children (neonates excluded) with radiologically confirmed CSVT, comparing children with a concurrent head/neck infection and children with other causes.

Results: A total of 84 consecutive patients (46 males and 38 females) with a median age of 4 years 6 months (range 3 months-17 years 5 months) were included.

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Infant botulism is a rare and life-threatening disease caused by the inhalation of Clostridium botulinum spores and differs from adult forms. We report the case of infant botulism in a 4-month-old boy who was exclusively breastfed without any consumption of honey. He presented with severe and acute encephalo-myelo-radiculitis.

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Main outcomes from the first 2 years of France's screening programme for neonatal permanent hearing loss through a descriptive study.

Acta Paediatr

October 2022

Santé publique France, French national public health agency, Non-Communicable Diseases and Trauma Division, Saint-Maurice, France.

Aim: This study aimed to evaluate the implementation of France's neonatal hearing loss screening programme  years after its launch, and to estimate permanent bilateral neonatal hearing loss (PBNHL) prevalence and distribution by severity.

Methods: This descriptive study used aggregated regional data on all births in France in 2015-2016. Screening coverage, refusal rate, positive predictive value (PPV), proportion of children with suspected PBNHL, PBNHL prevalence and distribution by severity were calculated.

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Purpose: To describe the management of bilateral chorioretinitis with in a post-chemotherapy immunocompromised young patient.

Method: A retrospective case report.

Result: A 9-year-old boy treated with chemotherapy for type 2 acute myeloid leukaemia was diagnosed with (formerly called ) fungaemia.

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Function of the Retinal Pigment Epithelium in Patients With Neurofibromatosis Type 1.

Invest Ophthalmol Vis Sci

April 2022

Ophthalmology Department and Reference Center for Rare Ophthalmological Diseases (OPHTARA), AP-HP, University Hospital Necker-Enfants Malades, Paris, France.

Purpose: Retinal and choroidal abnormalities in neurofibromatosis type 1 (NF1) remain poorly studied. It has been reported, however, that the function of the retinal pigment epithelium (RPE) in NF1 was abnormal, with a supra-normal Arden ratio of the electro-oculogram (EOG). This study aims to evaluate the function of the RPE, using EOG, first in patients with NF1 compared to controls and second in patients with NF1 with choroidal abnormalities compared to patients with NF1 without choroidal abnormalities.

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Management of sirolimus treatment for tumours associated with Kasabach-Merritt phenomenon.

J Eur Acad Dermatol Venereol

July 2022

Department of Dermatology and Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), University of Paris, Paris-Centre, Institut Imagine, University Hospital Necker-Enfants Malades, APHP5, Paris, France.

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The antipsychotropic drug Duloxetine rescues PAX6 haploinsufficiency of mutant limbal stem cells through inhibition of the MEK/ERK signaling pathway.

Ocul Surf

January 2022

INSERM U976, Hôpital St-Louis, Paris, France; INSERM UMRS 1138, Team 17, From physiopathology of ocular diseases to clinical development, Centre de Recherche des Cordeliers, Paris, France. Electronic address:

Aniridia is a panocular disease causing progressive severe visual impairment and blindness due to PAX-6 haploinsufficiency. One of the most disabling ocular symptoms is aniridia-related keratopathy (ARK), a progressive corneal opacification due to epithelial impairment, vascular and conjunctival pathologies. There is currently no available treatment to prevent progressive visual loss.

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The global adoption of predominantly plant-based, sustainable, healthy diets will help reduce the risk of obesity- and malnutrition-related noncommunicable diseases while protecting the future health of our planet. This review examines the benefits and limitations of different types of plant-based diets in terms of health and nutrition, affordability and accessibility, cultural (ethical and religious) acceptability, and the environment (i.e.

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Refining revascularization surgery indications for paediatric moyamoya angiopathy: Age also matters.

Eur J Paediatr Neurol

November 2021

French Centre for Paediatric Stroke, Paediatric Neurosurgery Department, APHP University Hospital Necker-Enfants Malades, Paris, France; University of Paris, Paris, France.

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Pharmacokinetics of ceftolozane/tazobactam continuous infusion on renal replacement therapy: A pediatric case report.

Therapie

October 2022

Pediatric Intensive Care Unit, APHP University Hospital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France; Université de Paris, 75006 Paris, France. Electronic address:

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Ritanserin, a potent serotonin 2A receptor antagonist, represses MEK/ERK signalling pathway to restore PAX6 production and function in aniridia-like cellular model.

Biochem Biophys Res Commun

December 2021

INSERM UMRS 1138, Team 17, From physiopathology of ocular diseases to clinical development, Centre de Recherche des Cordeliers, Paris, France; Université de Paris, France; INSERM U976, Hôpital St-Louis, Paris, France. Electronic address:

Aniridia is a panocular inherited rare eye disease linked to heterozygous mutations on the PAX6 gene, which fail to properly produce sufficient protein essential for normal eye development and function. Most of the patients suffer from aniridia-related keratopathy, a progressive opacification of the cornea. There is no effective treatment for this blinding disease.

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Importance: Sirolimus is increasingly being used to treat various vascular anomalies, although evidence of its efficacy is lacking.

Objective: To assess the efficacy and safety of sirolimus for children with slow-flow vascular malformations to better delineate the indications for treatment.

Design, Setting And Participants: This multicenter, open-label, observational-phase randomized clinical trial included 59 children aged 6 to 18 years with a slow-flow vascular malformation who were recruited between September 28, 2015, and March 22, 2018, in 11 French tertiary hospital centers.

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Arterial Spin Labeling for the Etiological Workup of Intracerebral Hemorrhage in Children.

Stroke

January 2022

Department of Pediatric Radiology UMR 1163, Institut Imagine, INSERM U1000, (J.F.H., G.B., B.K., F.G., L.G., N.B., V.D.R., F.B., O.N.), University hospital Necker-Enfants-malades, Paris, France.

Article Synopsis
  • Pediatric nontraumatic intracerebral hemorrhage is common in children and often caused by arteriovenous shunts (AVS), making early diagnosis crucial for preventing future hemorrhages.
  • A study examined the effectiveness of arterial spin labeling (ASL) MRI in detecting AVS in children who experienced hemorrhage between 2011 and 2019, finding that ASL performed better than other imaging methods like CT angiography.
  • ASL demonstrated high sensitivity (90.2%) and specificity (97.2%) for identifying AVS, making it a valuable tool in acute evaluations of pediatric stroke.
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Introduction: Aminoacyl transfer RNA (tRNA) synthetases are associated with diseases when mutations occur in their encoding genes. Pulmonary alveolar proteinosis can be caused by mutation in the methionyl-tRNA synthetase (MARS) gene while mutations in the leucine-tRNA synthetase (LARS) gene lead to infantile liver failure syndrome type 1. We report the case of a patient with LARS1 pathogenics variants and two patients with MARS1 pathogenics variants.

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Background And Objectives: Respiratory diseases are common in children with esophageal atresia (EA), leading to increased morbidity and mortality in the first year. The primary study objective was to identify the factors associated with readmissions for respiratory causes in the first year in EA children.

Methods: A population-based study.

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Although the left ventricular assist device is an important bridge to heart transplantation for patients with end-stage heart failure, it can also be a source of embolic stroke. We present a case of late intracranial mechanical thrombectomy performed for embolic stroke beyond the recommended 6 h, thus allowing for heart transplantation 4 days after intracranial mechanical thrombectomy. ().

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Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.

Orphanet J Rare Dis

July 2021

Department of Pediatric Neurology, Necker-Enfants Malades Hospital, APHP, Centre de Référence Épilepsies Rares, Member of ERN EPICARE, Université de Paris, Paris, France.

Background: The growing use of Electronic Health Records (EHRs) is promoting the application of data mining in health-care. A promising use of big data in this field is to develop models to support early diagnosis and to establish natural history. Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy that commonly initiates in the first year of life with febrile seizures (FS).

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Competence and warmth are two essential dimensions of patient care. During the twentieth century, the industrial revolution in data collection, with the increasing use of machines and the division of labor that led to the development of many subspecialities, increased the overall competence of physicians at the expense of the warmth dimension. The spread of patient-centered care principles aimed to rebalance the two dimensions.

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VGLL2-rearranged rhabdomyosarcomas (RMS) are rare low-grade tumors with only favorable outcomes reported to date. We describe 4 patients with VGLL2-rearranged RMS confirmed by molecular studies, who experienced local progression and distant metastases, including 2 with fatal outcomes. Tumors were diagnosed at birth (n=3) or at 12 months of age (n=1), and were all localized at initial diagnosis, but unresectable and therefore managed with chemotherapy and surveillance.

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Neurodevelopmental outcomes at age 5 among children born preterm: EPIPAGE-2 cohort study.

BMJ

April 2021

University of Paris, CRESS, Obstetrical Perinatal and Pediatric Epidemiology Research Team, EPOPé, INSERM, INRAE, F-75004 Paris, France.

Objectives: To describe neurodevelopment at age 5 among children born preterm.

Design: Population based cohort study, EPIPAGE-2.

Setting: France, 2011.

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