21 results match your criteria: "Lyon Est Medical School[Affiliation]"

Unveiling atypical diagnoses: when whole-genome analysis performed for refractory infantile hypomagnesemia reveals primary hyperoxaluria.

Pediatr Nephrol

January 2025

Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net Networks, Lyon University Hospital, Bron, France.

Article Synopsis
  • Genetic testing plays a vital role in diagnosing inherited kidney diseases, as demonstrated by the case of a premature boy with complex tubulopathy who was unexpectedly diagnosed with primary hyperoxaluria type 1 (PH1).
  • Despite initial treatments, the patient experienced persistent electrolyte imbalances and progressive kidney issues, prompting comprehensive genetic analysis.
  • The identification of mutations in the AGXT gene led to the correct diagnosis, highlighting the importance of thorough genetic evaluations, especially in unusual cases.
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Haemodialysis versus peritoneal dialysis in children: an eco-audit.

Nephrol Dial Transplant

October 2024

Pediatric Nephrology Rheumatology Dermatology Unit, Reference Center for Rare Renal Diseases, ORKID and ERK-Net networks, Lyon University Hospital, Bron, France.

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Article Synopsis
  • Endocrine disruptors (ED) are widespread pollutants linked to chronic diseases, particularly affecting vulnerable groups like infants and children, highlighting a need for better information for parents.
  • A study conducted at Lyon Mother and Child Hospital surveyed 746 individuals, including 444 pediatric healthcare professionals and 302 parents, revealing that while most had heard of ED, only 10% of parents and 5% of professionals felt well-informed about them.
  • The findings showed that professionals generally had better knowledge than parents (73% vs. 60%), but only a small percentage had engaged with scientific literature or training on EDs, indicating the necessity for specific educational initiatives.
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Introduction: Pathological narcissism (PN) can be defined as the compromised and fluctuating ability to regulate self-esteem, the latter depending on external validation, admiration, or enhancement, all resulting in grandiose (e.g., self-enhancement, aggressiveness, manipulation) or vulnerable (e.

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In the field of forensic anthropology, researchers aim to identify anonymous human remains and determine the cause and circumstances of death from skeletonized human remains. Sex determination is a fundamental step of this procedure because it influences the estimation of other traits, such as age and stature. Pelvic bones are especially dimorphic, and are thus the most useful bones for sex identification.

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Introduction: Substance use disorder (SUD) is a common condition often associated with borderline personality disorder (BPD), and patients with both disorders (SUD + BPD) have more complex presentations and poorer outcomes in treatment. Thus, there is a need to identify more clearly the clinical differences between patients with SUD + BPD and those with SUD only to help clinicians in their diagnostic process.

Methods: Data from medical files of 92 patients with SUD (SUD only:  = 42; SUD + BPD:  = 50) treated in an outpatient psychiatry and addiction treatment center were extracted to compare the differences in terms of sociodemographic characteristics, substance used, psychopathological dimensions, comorbidity prevalence, and functional impairment.

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Treatment of pediatric heterozygous familial hypercholesterolemia 7 years after the EAS recommendations: Real-world results from a large French cohort.

Arch Pediatr

April 2024

Assistance publique - Hôpitaux de Marseille APHM, La Conception Hospital, Nutrition, Metabolic Diseases and Endocrinology Department, Marseille, France; INSERM, INRAE, Aix Marseille University, Department C2VN, Marseille, France.

Background: Heterozygous familial hypercholesterolemia (HeFH) predisposes to premature cardiovascular diseases. Since 2015, the European Atherosclerosis Society has advocated initiation of statins at 8-10 years of age and a low-density lipoprotein cholesterol (LDL-C) target of <135 mg/dL. Longitudinal data from large databases on pharmacological management of pediatric HeFH are lacking.

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Background: Following a traumatic event, 40-80% of the patients with acute stress disorder (ASD) will develop post-traumatic stress disorder (PTSD), 67% at 6 months. Alpha1-blockers are effective in treating some symptoms of PTSD but their usefulness in acute stress situations remains unclear. We hypothesized that reducing noradrenergic hyperactivity with an alpha1-blocker during the acute phase after a traumatic event could prevent the transition to PTSD in patients with ASD.

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High flow nasal oxygen in frail COVID-19 patients hospitalized in intermediate care units and non-eligible to invasive mechanical ventilation.

Respir Med Res

November 2023

Department of Respiratory Diseases, Lyon Sud University Hospital, Hospices Civils de Lyon, Pierre Bénite, France; Lyon Center for Innovation in Cancerology, Lyon-Sud Medical School, Claude Bernard Lyon 1 University, Oullins, France.

Article Synopsis
  • Older COVID-19 patients, particularly those over 60 with comorbidities and frailty, face higher risks of mortality; thus, care limitations may be necessary for those with severe pneumonia and poor prognosis.
  • This study evaluated the outcomes of these patients treated with high flow nasal oxygen (HFNO) outside of ICU settings, aiming to assess survival rates and identify factors influencing HFNO success or failure.
  • Results indicated that 73% of the 56 patients studied died within 30 days; HFNO failed in 66% of cases, with certain clinical signs before treatment linked to higher mortality rates.
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Mineral and bone disorders (MBD) are common in patients with chronic kidney disease (CKD), contributing to significant morbidity and mortality. For several decades, the first-line approach to controlling hyperparathyroidism in CKD was by exogenous calcium loading. Since the turn of the millennium, however, a growing awareness of vascular calcification risk has led to a paradigm shift in management and a move away from calcium-based phosphate binders.

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Patients with chronic kidney disease (CKD) inevitably develop mineral and bone disorders (CKD-MBD), which negatively impact their survival and quality of life. For a better understanding of underlying pathophysiology and identification of novel therapeutic approaches, mouse models are essential. CKD can be induced by surgical reduction of a functional kidney mass, by nephrotoxic compounds and by genetic engineering specifically interfering with kidney development.

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Background: Infants with chronic kidney disease (CKD) form a vulnerable population who are highly prone to mineral and bone disorders (MBD) including biochemical abnormalities, growth retardation, bone deformities, and fractures. We present a position paper on the diagnosis and management of CKD-MBD in infants based on available evidence and the opinion of experts from the European Society for Paediatric Nephrology (ESPN) CKD-MBD and Dialysis working groups and the Pediatric Renal Nutrition Taskforce.

Methods: PICO (Patient, Intervention, Comparator, Outcomes) questions were generated, and relevant literature searches performed covering a population of infants below 2 years of age with CKD stages 2-5 or on dialysis.

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Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic Diagnosis.

J Pediatr

February 2023

Assistance publique - Hôpitaux de Marseille APHM, La Conception Hospital, Nutrition, Metabolic Diseases and Endocrinology Department, Marseille, France; INSERM, INRAE, Aix Marseille Université, Department C2VN, Marseille, France.

Objective: To identify childhood and parental factors associated with initiation of statin therapy in children with heterozygous familial hypercholesterolemia (HeFH), including underlying genetic diagnosis or parental premature atherosclerotic cardiovascular disease (ASCVD).

Study Design: This multicenter cohort study included 245 HeFH child-parent pairs from the REFERCHOL national register (2014-2020). Demographic and clinical characteristics at the last visit were collected.

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Rituximab as induction therapy in pediatric kidney transplantation: A single-center experience in four patients.

Pediatr Transplant

September 2022

Pediatric Nephrology, Rheumatology and Dermatology Unit, Reference Center for Rare Renal Diseases, Hôpital Femme Mère Enfant, Rare Disease Networks ORKID and ERK-Net, Hospices Civils de Lyon, Bron, France.

Background: The anti-CD20 rituximab is often used in the treatment of children with steroid-resistant nephrotic syndrome or EBV-induced post-transplant lymphoproliferative disorder. This single-center series reports the use of rituximab as induction therapy in pediatric kidney transplantation.

Methods: Four children who received rituximab as induction therapy for kidney transplantation since 2016 were retrospectively analyzed.

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Background: In the setting of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, data from autopsy in subjects who died at home during lockdown are scarce. We here report the first forensic autopsy series of coronavirus disease 2019 (COVID-19)-related out-of-hospital cardiac arrest (OHCA).

Methods: Between March and April 2020, four COVID-19-related OHCA were autopsied at the Institute of Legal Medicine of the metropolitan area of Lyon (France) according safe recommended procedures.

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Secondary hyperparathyroidism (SHPT) is an important complication of advanced chronic kidney disease (CKD) in children, which is often difficult to treat with conventional therapy. The calcimimetic cinacalcet is an allosteric modulator of the calcium-sensing receptor. It has proven to be effective and safe in adults to suppress parathyroid hormone (PTH), but data on its use in children are limited.

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Physiology of FGF23 and overview of genetic diseases associated with renal phosphate wasting.

Metabolism

February 2020

Paris Descartes University of Medicine, Necker-Enfants Malades Institute, INSERM U1151, France; Functional Exploration Department, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

Phosphate is a cornerstone of several physiological pathways including skeletal development, bone mineralization, membrane composition, nucleotide structure, maintenance of plasma pH, and cellular signaling. The kidneys have a key role in phosphate homeostasis with three hormones having important functions in renal phosphate handling or intestinal absorption: parathyroid hormone (PTH), fibroblast growth factor 23 (FGF23), and 1-25-dihydroxyvitamin D (1,25(OH)2D). FGF23 is mainly synthesized by osteocytes; it is a direct phosphaturic factor that also inhibits 1,25(OH)2D and PTH.

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Therapeutic hypothermia is neuroprotective after cardiac arrest (CA) via poorly understood mechanisms. It may prevent mitochondrial permeability transition pore (PTP) opening, an event which plays a pivotal role in ischemia-reperfusion injury. PTP is the main end-effector of the reperfusion injury salvage kinase (RISK) signaling pathway.

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Ocular Motor Manifestations of Multiple Sclerosis.

J Neuroophthalmol

September 2017

Hospices Civils de Lyon (EN, CT), Neuro-Ophthalmology and Neurology D, Hôpital Neurologique Pierre Wertheimer, Bron, France; Lyon I University (EN, CT), Lyon Est Medical School, Lyon, France; and CRNL (CT), INSERM U1028, CNRS UMR5292, ImpAct Team, Bron, France.

Background: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system leading to disability, especially in young patients. Acute or chronic lesions of MS within the brainstem and the cerebellum frequently result in ocular motor disorders.

Evidence Acquisition: This review encompasses the spectrum of ocular motor disorders in patients with MS emphasizing prevalence, examination findings, diagnostic features, functional consequences, classification of MS course, and management of these disturbances of ocular motility.

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Influence of early dysnatremia correction on survival of critically ill patients.

Shock

May 2014

*Medical Intensive Care Unit, Saint-Etienne University Hospital, Avenue Albert Raymond, Saint-Priest en Jarez; †Jacques Lisfranc Medical School, Saint-Etienne University, Saint-Etienne; ‡University of Grenoble 1 (Joseph Fourier) Integrated Research Center, Albert Bonniot Institute, and §Polyvalent Intensive Care Unit, Grenoble University Hospital, Grenoble; ∥Department of Physiology, Cochin University Hospital, Paris; ¶Surgical Intensive Care Unit, Mondor University Hospital, Créteil; **Medical Intensive Care Unit, University Hospital St Louis; and ††Medical Intensive Care Unit, Bichat University Hospital, Paris; ‡‡Medical-Surgical Intensive Care Unit, Avicenne University Hospital, Bobigny; §§Polyvalent Intensive Care Unit, Groupe Hospitalier St Joseph, Paris; ∥∥Medical Intensive Care Unit, Gabriel Montpied University Hospital, Clermont Ferrand; ¶¶Polyvalent Intensive Care Unit, Gonesse General Hospital, Gonesse; ***Intensive Care Unit, Centre Hospitalier Andrée Rosemon, Cayenne; †††Medical Intensive Care Unit, Hospices Civils de Lyon, Edouard Herriot University Hospital; and ‡‡‡Lyon University, Lyon-Est Medical School, Lyon; §§§Surgical Intensive Care Unit, Antoine Béclère University Hospital, Clamart; ∥∥∥Polyvalent Intensive Care Unit, Centre Hospitalier Sud Essonne Dourdan-Etampes-Siège, Etampes; and ****Surgical Intensive Care Unit, Edouard Herriot University Hospital, Hospices Civiles de Lyon, Lyon, France.

Increasing evidence suggests that dysnatremia at intensive care unit (ICU) admission may predict mortality. Little information is available, however, on the potential effect of dysnatremia correction. This is an observational multicenter cohort study in patients admitted between 2005 and 2012 to 18 French ICUs.

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