4 results on '"Quang Tuan Rémy Nguyen"'
Search Results
2. Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy
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Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, and Anne-Catherine Bachoud-Lévi
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Huntington's disease ,chorea ,phenocopy ,diagnosis ,differential diagnosis ,guidelines ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their diagnosis is still a challenge. Our objective is to provide a diagnostic approach to HD phenocopies based on medical expertise and a review of the literature. We employed two complementary approaches sequentially: a review of the literature and two surveys analyzing the daily clinical practice of physicians who are experts in movement disorders. The review of the literature was conducted from 1993 to 2020, by extracting articles about chorea or HD-like disorders from the database Pubmed, yielding 51 articles, and analyzing 20 articles in depth to establish the surveys. Twenty-eight physicians responded to the first survey exploring the red flags suggestive of specific disease entities. Thirty-three physicians completed the second survey which asked for the classification of paraclinical tests according to their diagnostic significance. The analysis of the results of the second survey used four different clustering algorithms and the density-based clustering algorithm DBSCAN to classify the paraclinical tests into 1st, 2nd, and 3rd-line recommendations. In addition, we included suggestions from members of the European Reference Network-Rare Neurological Diseases (ERN-RND Chorea & Huntington disease group). Finally, we propose guidance that integrate the detection of clinical red flags with a classification of paraclinical testing options to improve the diagnosis of HD phenocopies.
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- 2022
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3. Missed Diagnosis of Epilepsy-Associated Scald Burns: Two Cases Initially Diagnosed as Bullous Dermatosis
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Chloé Charpentier, Olivier Chosidow, Laura Giraud-Kerleroux, Nicolas Ortonne, C. Hua, Quang Tuan Rémy Nguyen, Sophie Gaudron, Pierre Wolkenstein, Charlotte Bernigaud, and Saskia Ingen-Housz-Oro
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Male ,medicine.medical_specialty ,Adolescent ,Missed diagnosis ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,medicine ,Humans ,Adverse effect ,Aged, 80 and over ,Missed Diagnosis ,business.industry ,Rehabilitation ,Unconsciousness ,Water ,030208 emergency & critical care medicine ,Skin Transplantation ,medicine.disease ,Dermatology ,Occult ,Thermal burn ,Drug eruption ,Bullous lesions ,Stevens-Johnson Syndrome ,Emergency Medicine ,Anticonvulsants ,Female ,Surgery ,medicine.symptom ,Burns ,business - Abstract
Thermal burns can occur during seizure. This diagnosis can be difficult in case of atypical lesions, even more if the epilepsy is unknown and in case of seizures with loss of consciousness and/or an unwitnessed epileptic attack. We report two cases of cutaneous bullous lesions initially misdiagnosed as severe acute cutaneous adverse reactions (generalized bullous fixed drug eruption and Stevens–Johnson syndrome). In the two cases, the clinical aspect, necrotic evolution, and absence of obvious attributable medication allowed to revert to the diagnosis of burns due to boiling water revealing previously unknown epilepsy. For both, surgical management with skin graft was performed, and antiepileptic treatment was introduced. Facing unexplained burns, occult epilepsy should be investigated. Questioning of patient and relatives is crucial.
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- 2020
4. Acute Hippocampal Encephalopathy in Heavy Cannabis Users: About 2 Cases
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Laurent Cleret de Langavant, Armand Mekontso-Dessap, Jérôme Hodel, Constance Lesoil, Alban Gravier, Anne-Catherine Bachoud-Lévi, Matthieu Mahévas, Quang Tuan Rémy Nguyen, Alexandre Bedet, Camille Petit-Hoang, Excitabilité nerveuse et thérapeutique (ENT), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-EA 4391, Service de Physiologie Explorations Fonctionnelles-Hôpital Henri Mondor, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, CCSD, Accord Elsevier, and Hôpital Henri Mondor-EA 4391, Service de Physiologie Explorations Fonctionnelles-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)
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Adult ,Male ,Marijuana Abuse ,Pediatrics ,medicine.medical_specialty ,[SDV]Life Sciences [q-bio] ,Encephalopathy ,Hippocampus ,Neuropsychological Tests ,030204 cardiovascular system & hematology ,Hippocampal formation ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,030212 general & internal medicine ,Episodic memory ,Cannabis ,Brain Diseases ,biology ,medicine.diagnostic_test ,business.industry ,Electroencephalography ,Magnetic resonance imaging ,General Medicine ,medicine.disease ,biology.organism_classification ,Magnetic Resonance Imaging ,Hippocampal atrophy ,3. Good health ,[SDV] Life Sciences [q-bio] ,business ,Rhabdomyolysis - Abstract
Background Cannabis use is increasing worldwide despite the various health effects of this substance. Methods We report 2 cases of acute hippocampal encephalopathy in heavy cannabis users (>10 joints/d). Results In both male patients, acute encephalitis was suspected. Brain magnetic resonance imaging (MRI) diffusion-weighted sequences showed bilateral high signal abnormalities in hippocampal regions. Patients had renal dysfunction, rhabdomyolysis, and inflammatory syndrome. Investigations showed no evidence of infectious or autoimmune encephalitides. Repeated electroencephalograms revealed no epileptic activity. Clinical, biological, and magnetic resonance imaging acute abnormalities improved within weeks. New exposure to cannabis yielded a new episode of encephalopathy. In both patients, severe long-lasting episodic memory impairment associated with hippocampal atrophy were observed several months later. Conclusions Health professionals should be aware of this cannabis-related syndrome given its severe and long-lasting effects.
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- 2020
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