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Papers by Robert Carlier

Research paper thumbnail of Pre-test probability for SARS-Cov-2-related Infection Score: the PARIS score

BackgroundDiagnostic tests for SARS-CoV-2 infection (mostly RT-PCR and Computed Tomography) are n... more BackgroundDiagnostic tests for SARS-CoV-2 infection (mostly RT-PCR and Computed Tomography) are not widely available in numerous countries, expensive and with imperfect performanceMethodsThis multicenter retrospective study aimed to determine a pre-test probability score for SARS-CoV-2 infection based on clinical and biological variables. Patients were recruited from emergency and infectious disease departments and were divided into a training and a validation cohort. Demographic characteristics, clinical symptoms, and results of blood tests (complete white blood cell count, serum electrolytes and CRP) were collected. The pre-test probability score was derived from univariate analyses between patients and controls, followed by multivariate binary logistic analysis to determine the independent variables associated with SARS-CoV-2 infection. Points were assigned to each variable to create the PARIS score. ROC curve analysis determined the area under the curve (AUC).FindingsOne hundred...

Research paper thumbnail of Distinctions between Peri and Postmortem Bone Lesions on a Burnt Body in the Aftermath of a Road Accident

Clinical case reports international, Nov 5, 2021

PMCT thus raises awareness of forensic investigations, it allows evidence to be collected in a no... more PMCT thus raises awareness of forensic investigations, it allows evidence to be collected in a non-destructive way and enable the body to be preserved in a "virtual form" for possible future investigations. PMCT shows an important sensitivity for bone lesion's evaluation and is therefore a significant tool in clarifying the events leading to the subject's death. Here, we present a case of a "light vehicle vs. light vehicle" road accident, complicated by a nearimmediate combustion of the vehicle and the imprisonment of the victim. One must determine the patient's cause of death, i.e. polytraumatic origin or by calcination. We will tackle bone damages characterization in order to determine whether they are peri or postmortem, during a complementary autopsy and CT scan analysis. Case Presentation Casuistic According to the provided information, the 20-year-old deceased was allegedly the victim of a "light vehicle vs. light vehicle" road accident. According to the witnesses of the accident, she was driving in the left lane in a 110 km/h limited area and was reportedly struck by another light vehicle slaloming between the lanes. The victim's vehicle supposedly caught fire without the witnesses being able to extract her from it. The dispatched emergency rescue on site did reportedly not perform any resuscitation manoeuvres. A Jane Doe's death certificate has been issued the same day. Prior to the autopsy, a full body CT scan without injection of contrast agent was carried out Distinctions between Peri and Postmortem Bone Lesions on a Burnt Body in the Aftermath of a Road Accident

Research paper thumbnail of Characteristics of and risk factors for severe neurological deficit in patients with pyogenic vertebral osteomyelitis

Medicine, May 1, 2017

Severe neurological deficit (SND) is a rare but major complication of pyogenic vertebral osteomye... more Severe neurological deficit (SND) is a rare but major complication of pyogenic vertebral osteomyelitis (PVO). We aimed to determine the risk factors and the variables associated with clinical improvement for SND during PVO. This case-control study included patients without PVO-associated SND enrolled in a prospective randomized antibiotic duration study, and patients with PVO-associated SND managed in 8 French referral centers. Risk factors for SND were determined by logistic regression. Ninety-seven patients with PVO-associated SND cases, and 297 controls were included. Risk factors for SND were epidural abscess [adjusted odds ratio, aOR 8.9 (3.8-21)], cervical [aOR 8.2 (2.8-24)], and/or thoracic involvement [aOR 14.8 (5.6-39)], Staphylococcus aureus PVO [aOR 2.5 (1.1-5.3)], and C-reactive protein (CRP) >150 mg/L [aOR 4.1 (1.9-9)]. Among the 81 patients with PVOassociated SND who were evaluated at 3 months, 62% had a favorable outcome, defined as a modified Rankin score 3. No factor was found significantly associated with good outcome, whereas high Charlson index [adjusted Hazard Ratio (aHR) 0.3 (0.1-0.9)], low American Spinal Injury Association (ASIA) impairment scale at diagnosis [aHR 0.4 (0.2-0.9)], and thoracic spinal cord compression [aHR 0.2 (0.08-0.5)] were associated with poor outcome. Duration of antibiotic treatment was not associated with functional outcome. SND is more common in cervical, thoracic, and S. aureus PVO, in the presence of epidural abscess, and when CRP >150 mg/L. Although neurological deterioration occurs in 30% of patients in early follow-up, the functional outcome is quite favorable in most cases after 3 months. The precise impact of optimal surgery and/or corticosteroids therapy must be specified by further studies. Abbreviations: AIS = ASIA impairment scale: Describes a person's functional impairment as a result of their spinal cord injury. Ranges from A: No motor or sensory function below neurologic level, to E: Normal sensory and motor function, ASIA = American Spinal Injury Association, CoNS = Coagulase-negative staphylococci CT, IQR = Interquartile range, PVO = Pyogenic vertebral osteomyelitis: Infectious vertebral osteomyelitis due to a pyogenic bacterium, RCT = Randomized controlled trial: Refers to the randomized controlled trial about treatment duration in vertebral osteomyelitis (L. Bernard and colleagues), SND = Severe neurological deficit: Neurological impairment with motor weakness secondary to the vertebral osteomyelitis.

Research paper thumbnail of Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction

Journal of Neuroradiology, Jun 1, 2022

Background : Olfactory dysfunction (OD) has been reported with a high prevalence on mild to moder... more Background : Olfactory dysfunction (OD) has been reported with a high prevalence on mild to moderate COVID-19 patients. Previous reports suggest that volume and signal intensity of olfactory bulbs (OB) have been reported as abnormal on acute phase of COVID-19 anosmia, but a prospective MRI and clinical follow-up study of COVID-19 patients presenting with OD was missing, aiming at understanding the modification of OB during patients'follow-up. Methods : A prospective multicenter study was conducted including 11 COVID-19 patients with OD. Patients underwent MRI and psychophysical olfactory assessments at baseline and 6-month post-COVID-19. T2 FLAIR-Signal intensity ratio (SIR) was measured between the average signal of the OB and the average signal of white matter. OB volumes and obstruction of olfactory clefts (OC) were evaluated at both evaluation times. Results : The psychophysical evaluations demonstrated a 6-month recovery in 10/11 patients (90.9%). The mean values of OB-SIR significantly decreased from baseline (1.66±0.24) to 6-month follow-up (1.35±0.27), reporting a mean variation of -17.82±15.20 % (p<0.001). The mean values of OB volumes significantly decreased from baseline (49.22±10.46 mm3) to 6-month follow-up (43.70±9.88 mm3), (p=0.006). Conclusion : Patients with demonstrated anosmia reported abnormalities in OB imaging that may be objectively evaluated with the measurement of SIR and OB volumes. SIR and OB volumes significantly normalized when patient recovered smell. This supports the underlying mechanism of a transient inflammation of the OB as a cause of Olfactory Dysfunction in COVID-19 patients.

Research paper thumbnail of Effect of an enteral amino acid blend on muscle and gut functionality in critically ill patients: a proof-of-concept randomized controlled trial

Critical Care

Background A defining feature of prolonged critical illness is muscle wasting, leading to impaire... more Background A defining feature of prolonged critical illness is muscle wasting, leading to impaired recovery. Supplementation with a tailored blend of amino acids may bolster the innate gut defence, promote intestinal mucosa repair and limit muscle loss. Methods This was a monocentric, randomized, double-blind, placebo-controlled study that included patients with sepsis or acute respiratory distress syndrome. Patients received a specific combination of five amino acids or placebo mixed with enteral feeding for 21 days. Markers of renal function, gut barrier structure and functionality were collected at baseline and 1, 2, 3 and 8 weeks after randomization. Muscle structure and function were assessed through MRI measurements of the anterior quadriceps volume and by twitch airway pressure. Data were compared between groups relative to the baseline. Results Thirty-five critically ill patients were randomized. The amino acid blend did not impair urine output, blood creatinine levels or cr...

Research paper thumbnail of La pathologie du système nerveux central liée au VIH à l'ère des multithérapies

Annales De Pathologie, 2003

L'introduction des multitherapies, ou traitements antiretroviraux de haute activite (HAART), ... more L'introduction des multitherapies, ou traitements antiretroviraux de haute activite (HAART), disponibles en France depuis 1996 pour tous les patients infectes par le VIH, a transforme de facon radicale l'evolution de la maladie. L'analyse de notre serie autopsique de sideens et des autres series de la litterature, montre la survenue de modifications nettes, a la fois quantitatives et qualitatives, des lesions neuropathologiques liees au VIH, apres l'introduction des multitherapies. Sur le plan quantitatif, ces traitements ont provoque une diminution spectaculaire du nombre d'autopsies de sideens ; cependant l'atteinte cerebrale demeure une cause majeure de deces chez ces patients. Il a aussi ete observe une modification de l'incidence des differentes complications neurologiques centrales du SIDA. Globalement, l'incidence des infections pour lesquelles il existe un traitement efficace, comme la toxoplasmose, l'encephalite a cytomegalovirus (ECMV) e...

Research paper thumbnail of Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Muscle & Nerve, 2021

Introduction/AimsRespiratory status is a key determinant of prognosis in patients with Duchenne m... more Introduction/AimsRespiratory 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.MethodsThis was a retrospective study of DMD patients followed in our center and admitted for an annual checkup from 2015 to 2018. We included DMD patients who underwent diaphragm ultrasound and pulmonary functional tests.ResultsThis study included 74 patients with DMD. The right diaphragm thickening fraction (TF) was significantly associated with age (P = .001), Walton score (P = .012), inspiratory capacity (IC) (P = .004), upright forced vital capacity (FVC) (P < .0001), supine FVC (P = .038), and maximal inspiratory pressure (MIP) (P = .002). Right diaphragm excursion was significantly associated with age (P < .0001), steroid use (P = .008), history of spinal fusion (P < .0001), body mass index (BMI) (P = .002), Walto...

Research paper thumbnail of Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Journal of Neurology, 2021

HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific re... more HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers.

Research paper thumbnail of Clinical Cutaneous Features of Patients Infected With SARS-CoV-2 Hospitalized for Pneumonia: A Cross-sectional Study

Open Forum Infectious Diseases, 2020

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of a current... more Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of a current pandemic worldwide. This virus can reach all organs and disturbs the immune system, leading to a cytokine storm in severe forms. We aimed to report cutaneous features among coronavirus disease 2019 (COVID-19) hospitalized patients. Methods We performed a cross-sectional study on 1 given day among all patients hospitalized in acute care for COVID-19 and included all patients with cutaneous features. Follow-up 48 hours later was obtained. Results Among 59 adult patients hospitalized on the day of the study in an infectious diseases ward for SARS-CoV-2 infection who were confirmed by molecular assay and/or radiological findings (computed tomography scan), 40 were included. Several cutaneous manifestations were found: macular exanthema (80%), face edema (32%), livedo (13%), urticarial rash (8%), purpura (5%), oral lichenoid lesions (33%), and conjunctivitis (18%). Cutaneous biopsy was perfo...

Research paper thumbnail of AI-driven quantification, staging and outcome prediction of COVID-19 pneumonia

Medical Image Analysis, 2021

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

Research paper thumbnail of Improvement of HIV-associated neurocognitive disorders after antiretroviral therapy intensification: the Neuro+3 study

Journal of Antimicrobial Chemotherapy, 2020

Objectives Despite the effectiveness of antiretroviral (ARV) therapy to control HIV infection, HI... more Objectives Despite the effectiveness of antiretroviral (ARV) therapy to control HIV infection, HIV-associated neurocognitive disorders (HAND) remain frequent. The Neuro+3 study assessed the cognitive improvement associated with ARV intensification based on increased CNS penetration effectiveness (CPE) scoring ≥+3 and total CPE score ≥9. Methods Thirty-one patients, aged 18–65 years, with confirmed diagnosis of HAND and effective ARV therapy were included. The cognitive improvement was measured using Frascati three-stage classification and global deficit score (GDS) after 48 and 96 weeks of ARV intensification. Ultrasensitive HIV-RNA, neopterin, soluble CD14, CCL2, CXCL10, IL6, IL8 and NF-L were measured in plasma and cerebrospinal fluid at Day 0 (baseline), Week 48 (W48) and W96. Results The intensified ARV was associated with a median (IQR) CPE score increase from 6 (4–7) at baseline to 10 (9–11). From baseline to W96, the median (IQR) GDS decreased from 1.4 (0.8–2.2) to 1.0 (0.6–2...

Research paper thumbnail of Occurrence of pulmonary embolism related to COVID-19

Journal of Thrombosis and Thrombolysis, 2020

Recent reports have suggested an increased risk of pulmonary embolism (PE) related to COVID-19. T... more Recent reports have suggested an increased risk of pulmonary embolism (PE) related to COVID-19. The aim of this cohort study is to compare the incidence of PE during a 3-year period and to assess the characteristics of PE in COVID-19. We studied consecutive patients presenting with PE (January 2017-April 2020). Clinical presentation, computed tomography (CT) and biological markers were systematically assessed. We recorded the global number of hospitalizations during the COVID-19 pandemic and during the same period in 2018-2019. We included 347 patients: 326 without COVID-19 and 21 with COVID-19. Patients with COVID-19 experienced more likely dyspnea (p=0.04), had lower arterial oxygen saturation (p<0.001), higher C-reactive protein and white blood cell (WBC) count (p<0.0001 and p=0.001, respectively), and a significantly higher in-hospital mortality (14% versus 3.4%, p=0.04). Among COVID-19 patients, diagnosis of PE was performed at admission in 38% (n=8). COVID-19 patients with diagnosis of PE during hospitalization (n=13) had significantly more dyspnea (p=0.04), lower arterial oxygen saturation (p=0.01), less proximal PE (p=0.02), and higher heart rate (p=0.009), CT severity score (p=0.001), C-reactive protein (p=0.006) and WBC count (p=0.04). During the COVID-19 outbreak, a 97.4% increase of PE incidence was observed as compared to 2017-2019 and the proportion of hospitalizations related to PE was 3.7% versus 1.3% in 2018-2019 (p<0.0001). In conclusion, the COVID-19 pandemic leads to a dramatic increased incidence of PE. Physicians should be aware that PE may be diagnosed at admission, but also after several days of hospitalization, with a different clinical, CT and biological features of thrombotic disease.

Research paper thumbnail of Magnetic resonance imaging of COVID-19 anosmic patients reveals abnormalities of the olfactory bulb: Preliminary prospective study

Journal of Infection, 2020

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

Research paper thumbnail of Parotitis-Like Symptoms Associated with COVID-19, France, March–April 2020

Emerging Infectious Diseases, 2020

Research paper thumbnail of MRI of Patients Infected With COVID-19 Revealed Cervical Lymphadenopathy

Ear, Nose & Throat Journal, 2020

Ear, nose, and throat (ENT) symptoms are common in the coronavirus disease 2019 (COVID-19). The m... more Ear, nose, and throat (ENT) symptoms are common in the coronavirus disease 2019 (COVID-19). The most commons ENT symptoms are loss of smell and taste, nasal obstruction, rhinorrhea, and sore throat. 1,2 Recently, some otolaryngologists described acute parotitis 3,4 and facial nerve palsy 5 associated with COVID-19 disease. In the pediatric population, cases of Kawasaki-like disease have occurred in children who tested positive for COVID-19, supporting the occurrence of COVID-19-related vasculitis in children. 6 In this article, we report the findings of 3 COVID-19 patients presenting cervical lymphadenopathies. From March 22 to May 15, 2020, 3 patients presented to Foch Hospital for symptoms related to COVID-19 disease. All the patients had a mild form of the disease with no medical history. The diagnosis of COVID-19 was confirmed by reverse transcription polymerase chain reaction. A magnetic resonance imaging was performed without injecting contrast to precisely assess the head and neck involvement. In the 3 cases, 2 experienced radiologists observed cervical lymph nodes in the following neck regions: I, II, and III (jugular group). They were considered pathological (cervical lymphadenopathy [CLA]) if their short-axis diameter in axial plane of level I or II nodes exceeds 11 mm, retropharyngeal nodes exceed 5 mm, and other cervical nodes exceed 10 mm. 7 The case 1 was a 26-year-old man. He had general symptoms: fever, asthenia, cough, and headache, and ENT symptoms: loss of smell and taste, nasal obstruction, and rhinorrhea. Magnetic resonance imaging was performed 8 days after the onset of symptoms. It revealed multiple bilateral cervical lymph nodes. The largest CLA measured 15 mm and was located in group II (upper jugular group). The radiologists observed an enlargement of the parotid with intraparotid lymph nodes (Figure 1). There was also an enlargement of the palatine tonsils.

Research paper thumbnail of Arterial and venous abdominal thrombosis in a 79-year-old woman with COVID-19 pneumonia

Radiology Case Reports, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

Nature Communications, 2019

Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, ... more Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, are responsible for postnatal muscle growth, homeostasis and regeneration. Attempts to utilize the regenerative potential of muscle stem cells for therapeutic purposes so far failed. We previously established the existence of human PAX7-positive cell colonies with high regenerative potential. We now identified PAX7-negative human muscle-derived cell colonies also positive for the myogenic markers desmin and MYF5. These include cells from a patient with a homozygous PAX7 c.86-1G > A mutation (PAX7null). Single cell and bulk transcriptome analysis show high intra- and inter-donor heterogeneity and reveal the endothelial cell marker CLEC14A to be highly expressed in PAX7null cells. All PAX7-negative cell populations, including PAX7null, form myofibers after transplantation into mice, and regenerate muscle after reinjury. Transplanted PAX7neg cells repopulate the satellite cell niche wher...

Research paper thumbnail of Imagerie radiologique du rachis cervical (jonction craniocervicale exclue)

EMC - Radiologie et imagerie médicale - Musculosquelettique - Neurologique - Maxillofaciale, 2012

Ce chapitre fondamental de l'imagerie rachidienne est présenté non pas de façon globale et exclus... more Ce chapitre fondamental de l'imagerie rachidienne est présenté non pas de façon globale et exclusivement sémiologique mais selon une approche analytique où chacun de ses éléments interfère en permanence avec ceux des autres techniques d'imagerie, en particulier l'imagerie en coupes. L'anatomie est rappelée de façon descriptive en insistant sur la concordance avec les éléments de projection radiographiques. La réalisation et les critères de « normalité » s'appuient sur le principe du topogramme établi sur la projection axiale d'une vertèbre cervicale type ou idéale. Ce même topogramme aide à la compréhension des caractéristiques biomécaniques du rachis, prises de façon segmentaire ou globale. Les incidences fondamentales sont le support d'une analyse standardisée et reproductible. Les incidences de nécessité sont essentiellement dirigées par l'orientation et la complexité des structures postérieures. Le rachis cervical étant le segment le plus mobile et le plus vulnérable du squelette axial, il convenait de rappeler les caractéristiques fonctionnelles du segment mobile élémentaire et du rachis cervical dans son ensemble. Dans ce dernier aspect de l'imagerie fonctionnelle, une mise au point est faite pour ce qui concerne les risques, les dangers et les obligations en pratique traumatologique.

Research paper thumbnail of MRI in sarcoglycanopathies: a large international cohort study

Journal of neurology, neurosurgery, and psychiatry, Jan 9, 2017

To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patien... more To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of ...

Research paper thumbnail of Basilar Artery Changes in Fabry Disease

American Journal of Neuroradiology, 2017

BACKGROUND AND PURPOSE: Dolichoectasia of the basilar artery is a characteristic finding of Fabry... more BACKGROUND AND PURPOSE: Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. MATERIALS AND METHODS: Basilar artery mean diameter, curved length, "origin-to-end" linear distance (linear length), and tortuosity index ([curved length Ϭ linear length] Ϫ 1) were retrospectively measured on 1.5T MRA studies of 110 patients with Fabry disease (mean age, 39.4 Ϯ 18.6 years; 40 males) and 108 control patients (mean age, 42.0 Ϯ 18.2 years; 40 males). RESULTS: Patients with Fabry disease had increased basilar artery mean diameter (P Ͻ .001) and basilar artery linear length (P ϭ .02) compared with control patients. Basilar artery curved length and tortuosity index correlated with age in both groups (P Ͻ .001), whereas basilar artery linear length correlated with age only in patients with Fabry disease (P ϭ .002). Patients with Fabry disease showed a basilar artery curved length mean increase of 4.2% (9.7% in male patients with Fabry disease versus male control patients), whereas the basilar artery mean diameter had a mean increase of 12.4% (14.3% in male patients with Fabry disease versus male control patients). Male patients with Fabry disease had increased basilar artery mean diameter, curved length, and tortuosity index compared with female patients with Fabry disease (P ϭ .04, P ϭ .02, and P Ͻ .001, respectively) and male control patients (P Ͻ .001, P ϭ .01, and P ϭ .006, respectively). Female patients with Fabry disease demonstrated an age-dependent increase of basilar artery mean diameter that became significant (P Ͻ .001) compared with female control patients above the age of 45 years. CONCLUSIONS: The basilar artery of patients with FD is subjected to major remodeling that differs according to age and sex, thus providing interesting clues about the pathophysiology of cerebral vessels in Fabry disease. ABBREVIATION: FD ϭ Fabry disease F abry disease (OMIM 301500; FD) is a rare X-linked (Xq22.1) disease caused by mutations in the GLA gene causing deficiency of the hydrolase ␣-galactosidase A (␣-GalA, E.C. 3.2.1.22). 1 The enzyme deficiency results in impaired sphingo-lipid catabolism with lysosomal accumulation of upstream metabolites (mainly globotriaosylceramide [Gb 3 ] and its deacylated compound globotriaosylsphingosine [lysoGb 3 ]). All organs are involved, with major damage to the kidneys, heart, and nervous system. The brain might present white matter vascular-like abnormalities, TIAs, and stroke at a young age, 2 suggesting that micro-and macroangiopathy might have a pivotal role in the pathogenesis of brain lesions. Indeed, both small and large blood vessels have been consistently shown to present functional and morphologic changes in patients with FD. 3-5 Increased vessel tortuosity has been found in the retina 6 and in the skin, 7,8 and intracranial artery dolichoectatic changes have been repeatedly observed in patients with FD during both pathologic and neuroimaging evaluations. 9-17 Hitherto, most of the latter studies either referred to small samples or evaluated single specific aspects of artery dolichoectasia (such as the vessel lumen diameter). In addition, these studies

Research paper thumbnail of Pre-test probability for SARS-Cov-2-related Infection Score: the PARIS score

BackgroundDiagnostic tests for SARS-CoV-2 infection (mostly RT-PCR and Computed Tomography) are n... more BackgroundDiagnostic tests for SARS-CoV-2 infection (mostly RT-PCR and Computed Tomography) are not widely available in numerous countries, expensive and with imperfect performanceMethodsThis multicenter retrospective study aimed to determine a pre-test probability score for SARS-CoV-2 infection based on clinical and biological variables. Patients were recruited from emergency and infectious disease departments and were divided into a training and a validation cohort. Demographic characteristics, clinical symptoms, and results of blood tests (complete white blood cell count, serum electrolytes and CRP) were collected. The pre-test probability score was derived from univariate analyses between patients and controls, followed by multivariate binary logistic analysis to determine the independent variables associated with SARS-CoV-2 infection. Points were assigned to each variable to create the PARIS score. ROC curve analysis determined the area under the curve (AUC).FindingsOne hundred...

Research paper thumbnail of Distinctions between Peri and Postmortem Bone Lesions on a Burnt Body in the Aftermath of a Road Accident

Clinical case reports international, Nov 5, 2021

PMCT thus raises awareness of forensic investigations, it allows evidence to be collected in a no... more PMCT thus raises awareness of forensic investigations, it allows evidence to be collected in a non-destructive way and enable the body to be preserved in a "virtual form" for possible future investigations. PMCT shows an important sensitivity for bone lesion's evaluation and is therefore a significant tool in clarifying the events leading to the subject's death. Here, we present a case of a "light vehicle vs. light vehicle" road accident, complicated by a nearimmediate combustion of the vehicle and the imprisonment of the victim. One must determine the patient's cause of death, i.e. polytraumatic origin or by calcination. We will tackle bone damages characterization in order to determine whether they are peri or postmortem, during a complementary autopsy and CT scan analysis. Case Presentation Casuistic According to the provided information, the 20-year-old deceased was allegedly the victim of a "light vehicle vs. light vehicle" road accident. According to the witnesses of the accident, she was driving in the left lane in a 110 km/h limited area and was reportedly struck by another light vehicle slaloming between the lanes. The victim's vehicle supposedly caught fire without the witnesses being able to extract her from it. The dispatched emergency rescue on site did reportedly not perform any resuscitation manoeuvres. A Jane Doe's death certificate has been issued the same day. Prior to the autopsy, a full body CT scan without injection of contrast agent was carried out Distinctions between Peri and Postmortem Bone Lesions on a Burnt Body in the Aftermath of a Road Accident

Research paper thumbnail of Characteristics of and risk factors for severe neurological deficit in patients with pyogenic vertebral osteomyelitis

Medicine, May 1, 2017

Severe neurological deficit (SND) is a rare but major complication of pyogenic vertebral osteomye... more Severe neurological deficit (SND) is a rare but major complication of pyogenic vertebral osteomyelitis (PVO). We aimed to determine the risk factors and the variables associated with clinical improvement for SND during PVO. This case-control study included patients without PVO-associated SND enrolled in a prospective randomized antibiotic duration study, and patients with PVO-associated SND managed in 8 French referral centers. Risk factors for SND were determined by logistic regression. Ninety-seven patients with PVO-associated SND cases, and 297 controls were included. Risk factors for SND were epidural abscess [adjusted odds ratio, aOR 8.9 (3.8-21)], cervical [aOR 8.2 (2.8-24)], and/or thoracic involvement [aOR 14.8 (5.6-39)], Staphylococcus aureus PVO [aOR 2.5 (1.1-5.3)], and C-reactive protein (CRP) >150 mg/L [aOR 4.1 (1.9-9)]. Among the 81 patients with PVOassociated SND who were evaluated at 3 months, 62% had a favorable outcome, defined as a modified Rankin score 3. No factor was found significantly associated with good outcome, whereas high Charlson index [adjusted Hazard Ratio (aHR) 0.3 (0.1-0.9)], low American Spinal Injury Association (ASIA) impairment scale at diagnosis [aHR 0.4 (0.2-0.9)], and thoracic spinal cord compression [aHR 0.2 (0.08-0.5)] were associated with poor outcome. Duration of antibiotic treatment was not associated with functional outcome. SND is more common in cervical, thoracic, and S. aureus PVO, in the presence of epidural abscess, and when CRP >150 mg/L. Although neurological deterioration occurs in 30% of patients in early follow-up, the functional outcome is quite favorable in most cases after 3 months. The precise impact of optimal surgery and/or corticosteroids therapy must be specified by further studies. Abbreviations: AIS = ASIA impairment scale: Describes a person's functional impairment as a result of their spinal cord injury. Ranges from A: No motor or sensory function below neurologic level, to E: Normal sensory and motor function, ASIA = American Spinal Injury Association, CoNS = Coagulase-negative staphylococci CT, IQR = Interquartile range, PVO = Pyogenic vertebral osteomyelitis: Infectious vertebral osteomyelitis due to a pyogenic bacterium, RCT = Randomized controlled trial: Refers to the randomized controlled trial about treatment duration in vertebral osteomyelitis (L. Bernard and colleagues), SND = Severe neurological deficit: Neurological impairment with motor weakness secondary to the vertebral osteomyelitis.

Research paper thumbnail of Transient modifications of the olfactory bulb on MR follow-up of COVID-19 patients with related olfactory dysfunction

Journal of Neuroradiology, Jun 1, 2022

Background : Olfactory dysfunction (OD) has been reported with a high prevalence on mild to moder... more Background : Olfactory dysfunction (OD) has been reported with a high prevalence on mild to moderate COVID-19 patients. Previous reports suggest that volume and signal intensity of olfactory bulbs (OB) have been reported as abnormal on acute phase of COVID-19 anosmia, but a prospective MRI and clinical follow-up study of COVID-19 patients presenting with OD was missing, aiming at understanding the modification of OB during patients'follow-up. Methods : A prospective multicenter study was conducted including 11 COVID-19 patients with OD. Patients underwent MRI and psychophysical olfactory assessments at baseline and 6-month post-COVID-19. T2 FLAIR-Signal intensity ratio (SIR) was measured between the average signal of the OB and the average signal of white matter. OB volumes and obstruction of olfactory clefts (OC) were evaluated at both evaluation times. Results : The psychophysical evaluations demonstrated a 6-month recovery in 10/11 patients (90.9%). The mean values of OB-SIR significantly decreased from baseline (1.66±0.24) to 6-month follow-up (1.35±0.27), reporting a mean variation of -17.82±15.20 % (p<0.001). The mean values of OB volumes significantly decreased from baseline (49.22±10.46 mm3) to 6-month follow-up (43.70±9.88 mm3), (p=0.006). Conclusion : Patients with demonstrated anosmia reported abnormalities in OB imaging that may be objectively evaluated with the measurement of SIR and OB volumes. SIR and OB volumes significantly normalized when patient recovered smell. This supports the underlying mechanism of a transient inflammation of the OB as a cause of Olfactory Dysfunction in COVID-19 patients.

Research paper thumbnail of Effect of an enteral amino acid blend on muscle and gut functionality in critically ill patients: a proof-of-concept randomized controlled trial

Critical Care

Background A defining feature of prolonged critical illness is muscle wasting, leading to impaire... more Background A defining feature of prolonged critical illness is muscle wasting, leading to impaired recovery. Supplementation with a tailored blend of amino acids may bolster the innate gut defence, promote intestinal mucosa repair and limit muscle loss. Methods This was a monocentric, randomized, double-blind, placebo-controlled study that included patients with sepsis or acute respiratory distress syndrome. Patients received a specific combination of five amino acids or placebo mixed with enteral feeding for 21 days. Markers of renal function, gut barrier structure and functionality were collected at baseline and 1, 2, 3 and 8 weeks after randomization. Muscle structure and function were assessed through MRI measurements of the anterior quadriceps volume and by twitch airway pressure. Data were compared between groups relative to the baseline. Results Thirty-five critically ill patients were randomized. The amino acid blend did not impair urine output, blood creatinine levels or cr...

Research paper thumbnail of La pathologie du système nerveux central liée au VIH à l'ère des multithérapies

Annales De Pathologie, 2003

L'introduction des multitherapies, ou traitements antiretroviraux de haute activite (HAART), ... more L'introduction des multitherapies, ou traitements antiretroviraux de haute activite (HAART), disponibles en France depuis 1996 pour tous les patients infectes par le VIH, a transforme de facon radicale l'evolution de la maladie. L'analyse de notre serie autopsique de sideens et des autres series de la litterature, montre la survenue de modifications nettes, a la fois quantitatives et qualitatives, des lesions neuropathologiques liees au VIH, apres l'introduction des multitherapies. Sur le plan quantitatif, ces traitements ont provoque une diminution spectaculaire du nombre d'autopsies de sideens ; cependant l'atteinte cerebrale demeure une cause majeure de deces chez ces patients. Il a aussi ete observe une modification de l'incidence des differentes complications neurologiques centrales du SIDA. Globalement, l'incidence des infections pour lesquelles il existe un traitement efficace, comme la toxoplasmose, l'encephalite a cytomegalovirus (ECMV) e...

Research paper thumbnail of Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Muscle & Nerve, 2021

Introduction/AimsRespiratory status is a key determinant of prognosis in patients with Duchenne m... more Introduction/AimsRespiratory 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.MethodsThis was a retrospective study of DMD patients followed in our center and admitted for an annual checkup from 2015 to 2018. We included DMD patients who underwent diaphragm ultrasound and pulmonary functional tests.ResultsThis study included 74 patients with DMD. The right diaphragm thickening fraction (TF) was significantly associated with age (P = .001), Walton score (P = .012), inspiratory capacity (IC) (P = .004), upright forced vital capacity (FVC) (P < .0001), supine FVC (P = .038), and maximal inspiratory pressure (MIP) (P = .002). Right diaphragm excursion was significantly associated with age (P < .0001), steroid use (P = .008), history of spinal fusion (P < .0001), body mass index (BMI) (P = .002), Walto...

Research paper thumbnail of Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Journal of Neurology, 2021

HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific re... more HAL is a multidisciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers.

Research paper thumbnail of Clinical Cutaneous Features of Patients Infected With SARS-CoV-2 Hospitalized for Pneumonia: A Cross-sectional Study

Open Forum Infectious Diseases, 2020

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of a current... more Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of a current pandemic worldwide. This virus can reach all organs and disturbs the immune system, leading to a cytokine storm in severe forms. We aimed to report cutaneous features among coronavirus disease 2019 (COVID-19) hospitalized patients. Methods We performed a cross-sectional study on 1 given day among all patients hospitalized in acute care for COVID-19 and included all patients with cutaneous features. Follow-up 48 hours later was obtained. Results Among 59 adult patients hospitalized on the day of the study in an infectious diseases ward for SARS-CoV-2 infection who were confirmed by molecular assay and/or radiological findings (computed tomography scan), 40 were included. Several cutaneous manifestations were found: macular exanthema (80%), face edema (32%), livedo (13%), urticarial rash (8%), purpura (5%), oral lichenoid lesions (33%), and conjunctivitis (18%). Cutaneous biopsy was perfo...

Research paper thumbnail of AI-driven quantification, staging and outcome prediction of COVID-19 pneumonia

Medical Image Analysis, 2021

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

Research paper thumbnail of Improvement of HIV-associated neurocognitive disorders after antiretroviral therapy intensification: the Neuro+3 study

Journal of Antimicrobial Chemotherapy, 2020

Objectives Despite the effectiveness of antiretroviral (ARV) therapy to control HIV infection, HI... more Objectives Despite the effectiveness of antiretroviral (ARV) therapy to control HIV infection, HIV-associated neurocognitive disorders (HAND) remain frequent. The Neuro+3 study assessed the cognitive improvement associated with ARV intensification based on increased CNS penetration effectiveness (CPE) scoring ≥+3 and total CPE score ≥9. Methods Thirty-one patients, aged 18–65 years, with confirmed diagnosis of HAND and effective ARV therapy were included. The cognitive improvement was measured using Frascati three-stage classification and global deficit score (GDS) after 48 and 96 weeks of ARV intensification. Ultrasensitive HIV-RNA, neopterin, soluble CD14, CCL2, CXCL10, IL6, IL8 and NF-L were measured in plasma and cerebrospinal fluid at Day 0 (baseline), Week 48 (W48) and W96. Results The intensified ARV was associated with a median (IQR) CPE score increase from 6 (4–7) at baseline to 10 (9–11). From baseline to W96, the median (IQR) GDS decreased from 1.4 (0.8–2.2) to 1.0 (0.6–2...

Research paper thumbnail of Occurrence of pulmonary embolism related to COVID-19

Journal of Thrombosis and Thrombolysis, 2020

Recent reports have suggested an increased risk of pulmonary embolism (PE) related to COVID-19. T... more Recent reports have suggested an increased risk of pulmonary embolism (PE) related to COVID-19. The aim of this cohort study is to compare the incidence of PE during a 3-year period and to assess the characteristics of PE in COVID-19. We studied consecutive patients presenting with PE (January 2017-April 2020). Clinical presentation, computed tomography (CT) and biological markers were systematically assessed. We recorded the global number of hospitalizations during the COVID-19 pandemic and during the same period in 2018-2019. We included 347 patients: 326 without COVID-19 and 21 with COVID-19. Patients with COVID-19 experienced more likely dyspnea (p=0.04), had lower arterial oxygen saturation (p<0.001), higher C-reactive protein and white blood cell (WBC) count (p<0.0001 and p=0.001, respectively), and a significantly higher in-hospital mortality (14% versus 3.4%, p=0.04). Among COVID-19 patients, diagnosis of PE was performed at admission in 38% (n=8). COVID-19 patients with diagnosis of PE during hospitalization (n=13) had significantly more dyspnea (p=0.04), lower arterial oxygen saturation (p=0.01), less proximal PE (p=0.02), and higher heart rate (p=0.009), CT severity score (p=0.001), C-reactive protein (p=0.006) and WBC count (p=0.04). During the COVID-19 outbreak, a 97.4% increase of PE incidence was observed as compared to 2017-2019 and the proportion of hospitalizations related to PE was 3.7% versus 1.3% in 2018-2019 (p<0.0001). In conclusion, the COVID-19 pandemic leads to a dramatic increased incidence of PE. Physicians should be aware that PE may be diagnosed at admission, but also after several days of hospitalization, with a different clinical, CT and biological features of thrombotic disease.

Research paper thumbnail of Magnetic resonance imaging of COVID-19 anosmic patients reveals abnormalities of the olfactory bulb: Preliminary prospective study

Journal of Infection, 2020

Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on ... more Elsevier has created a COVID-19 resource centre with free information in English and Mandarin on the novel coronavirus COVID-19. The COVID-19 resource centre is hosted on Elsevier Connect, the company's public news and information website. Elsevier hereby grants permission to make all its COVID-19-related research that is available on the COVID-19 resource centre-including this research content-immediately available in PubMed Central and other publicly funded repositories, such as the WHO COVID database with rights for unrestricted research re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for free by Elsevier for as long as the COVID-19 resource centre remains active.

Research paper thumbnail of Parotitis-Like Symptoms Associated with COVID-19, France, March–April 2020

Emerging Infectious Diseases, 2020

Research paper thumbnail of MRI of Patients Infected With COVID-19 Revealed Cervical Lymphadenopathy

Ear, Nose & Throat Journal, 2020

Ear, nose, and throat (ENT) symptoms are common in the coronavirus disease 2019 (COVID-19). The m... more Ear, nose, and throat (ENT) symptoms are common in the coronavirus disease 2019 (COVID-19). The most commons ENT symptoms are loss of smell and taste, nasal obstruction, rhinorrhea, and sore throat. 1,2 Recently, some otolaryngologists described acute parotitis 3,4 and facial nerve palsy 5 associated with COVID-19 disease. In the pediatric population, cases of Kawasaki-like disease have occurred in children who tested positive for COVID-19, supporting the occurrence of COVID-19-related vasculitis in children. 6 In this article, we report the findings of 3 COVID-19 patients presenting cervical lymphadenopathies. From March 22 to May 15, 2020, 3 patients presented to Foch Hospital for symptoms related to COVID-19 disease. All the patients had a mild form of the disease with no medical history. The diagnosis of COVID-19 was confirmed by reverse transcription polymerase chain reaction. A magnetic resonance imaging was performed without injecting contrast to precisely assess the head and neck involvement. In the 3 cases, 2 experienced radiologists observed cervical lymph nodes in the following neck regions: I, II, and III (jugular group). They were considered pathological (cervical lymphadenopathy [CLA]) if their short-axis diameter in axial plane of level I or II nodes exceeds 11 mm, retropharyngeal nodes exceed 5 mm, and other cervical nodes exceed 10 mm. 7 The case 1 was a 26-year-old man. He had general symptoms: fever, asthenia, cough, and headache, and ENT symptoms: loss of smell and taste, nasal obstruction, and rhinorrhea. Magnetic resonance imaging was performed 8 days after the onset of symptoms. It revealed multiple bilateral cervical lymph nodes. The largest CLA measured 15 mm and was located in group II (upper jugular group). The radiologists observed an enlargement of the parotid with intraparotid lymph nodes (Figure 1). There was also an enlargement of the palatine tonsils.

Research paper thumbnail of Arterial and venous abdominal thrombosis in a 79-year-old woman with COVID-19 pneumonia

Radiology Case Reports, 2020

This is a PDF file of an article that has undergone enhancements after acceptance, such as the ad... more This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

Research paper thumbnail of Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

Nature Communications, 2019

Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, ... more Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, are responsible for postnatal muscle growth, homeostasis and regeneration. Attempts to utilize the regenerative potential of muscle stem cells for therapeutic purposes so far failed. We previously established the existence of human PAX7-positive cell colonies with high regenerative potential. We now identified PAX7-negative human muscle-derived cell colonies also positive for the myogenic markers desmin and MYF5. These include cells from a patient with a homozygous PAX7 c.86-1G > A mutation (PAX7null). Single cell and bulk transcriptome analysis show high intra- and inter-donor heterogeneity and reveal the endothelial cell marker CLEC14A to be highly expressed in PAX7null cells. All PAX7-negative cell populations, including PAX7null, form myofibers after transplantation into mice, and regenerate muscle after reinjury. Transplanted PAX7neg cells repopulate the satellite cell niche wher...

Research paper thumbnail of Imagerie radiologique du rachis cervical (jonction craniocervicale exclue)

EMC - Radiologie et imagerie médicale - Musculosquelettique - Neurologique - Maxillofaciale, 2012

Ce chapitre fondamental de l'imagerie rachidienne est présenté non pas de façon globale et exclus... more Ce chapitre fondamental de l'imagerie rachidienne est présenté non pas de façon globale et exclusivement sémiologique mais selon une approche analytique où chacun de ses éléments interfère en permanence avec ceux des autres techniques d'imagerie, en particulier l'imagerie en coupes. L'anatomie est rappelée de façon descriptive en insistant sur la concordance avec les éléments de projection radiographiques. La réalisation et les critères de « normalité » s'appuient sur le principe du topogramme établi sur la projection axiale d'une vertèbre cervicale type ou idéale. Ce même topogramme aide à la compréhension des caractéristiques biomécaniques du rachis, prises de façon segmentaire ou globale. Les incidences fondamentales sont le support d'une analyse standardisée et reproductible. Les incidences de nécessité sont essentiellement dirigées par l'orientation et la complexité des structures postérieures. Le rachis cervical étant le segment le plus mobile et le plus vulnérable du squelette axial, il convenait de rappeler les caractéristiques fonctionnelles du segment mobile élémentaire et du rachis cervical dans son ensemble. Dans ce dernier aspect de l'imagerie fonctionnelle, une mise au point est faite pour ce qui concerne les risques, les dangers et les obligations en pratique traumatologique.

Research paper thumbnail of MRI in sarcoglycanopathies: a large international cohort study

Journal of neurology, neurosurgery, and psychiatry, Jan 9, 2017

To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patien... more To characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C-2F) caused by mutations in one of the four genes coding for muscle sarcoglycans. Lower limb MRI scans of patients with LGMD2C-2F, ranging from severe childhood variants to milder adult-onset forms, were collected in 17 neuromuscular referral centres in Europe and USA. Muscle involvement was evaluated semiquantitatively on T1-weighted images according to a visual score, and the global pattern was assessed as well. Scans from 69 patients were examined (38 LGMD2D, 18 LGMD2C, 12 LGMD2E and 1 LGMD2F). A common pattern of involvement was found in all the analysed scans irrespective of the mutated gene. The most and earliest affected muscles were the thigh adductors, glutei and posterior thigh groups, while lower leg muscles were relatively spared even in advanced disease. A proximodistal gradient of involvement of ...

Research paper thumbnail of Basilar Artery Changes in Fabry Disease

American Journal of Neuroradiology, 2017

BACKGROUND AND PURPOSE: Dolichoectasia of the basilar artery is a characteristic finding of Fabry... more BACKGROUND AND PURPOSE: Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. MATERIALS AND METHODS: Basilar artery mean diameter, curved length, "origin-to-end" linear distance (linear length), and tortuosity index ([curved length Ϭ linear length] Ϫ 1) were retrospectively measured on 1.5T MRA studies of 110 patients with Fabry disease (mean age, 39.4 Ϯ 18.6 years; 40 males) and 108 control patients (mean age, 42.0 Ϯ 18.2 years; 40 males). RESULTS: Patients with Fabry disease had increased basilar artery mean diameter (P Ͻ .001) and basilar artery linear length (P ϭ .02) compared with control patients. Basilar artery curved length and tortuosity index correlated with age in both groups (P Ͻ .001), whereas basilar artery linear length correlated with age only in patients with Fabry disease (P ϭ .002). Patients with Fabry disease showed a basilar artery curved length mean increase of 4.2% (9.7% in male patients with Fabry disease versus male control patients), whereas the basilar artery mean diameter had a mean increase of 12.4% (14.3% in male patients with Fabry disease versus male control patients). Male patients with Fabry disease had increased basilar artery mean diameter, curved length, and tortuosity index compared with female patients with Fabry disease (P ϭ .04, P ϭ .02, and P Ͻ .001, respectively) and male control patients (P Ͻ .001, P ϭ .01, and P ϭ .006, respectively). Female patients with Fabry disease demonstrated an age-dependent increase of basilar artery mean diameter that became significant (P Ͻ .001) compared with female control patients above the age of 45 years. CONCLUSIONS: The basilar artery of patients with FD is subjected to major remodeling that differs according to age and sex, thus providing interesting clues about the pathophysiology of cerebral vessels in Fabry disease. ABBREVIATION: FD ϭ Fabry disease F abry disease (OMIM 301500; FD) is a rare X-linked (Xq22.1) disease caused by mutations in the GLA gene causing deficiency of the hydrolase ␣-galactosidase A (␣-GalA, E.C. 3.2.1.22). 1 The enzyme deficiency results in impaired sphingo-lipid catabolism with lysosomal accumulation of upstream metabolites (mainly globotriaosylceramide [Gb 3 ] and its deacylated compound globotriaosylsphingosine [lysoGb 3 ]). All organs are involved, with major damage to the kidneys, heart, and nervous system. The brain might present white matter vascular-like abnormalities, TIAs, and stroke at a young age, 2 suggesting that micro-and macroangiopathy might have a pivotal role in the pathogenesis of brain lesions. Indeed, both small and large blood vessels have been consistently shown to present functional and morphologic changes in patients with FD. 3-5 Increased vessel tortuosity has been found in the retina 6 and in the skin, 7,8 and intracranial artery dolichoectatic changes have been repeatedly observed in patients with FD during both pathologic and neuroimaging evaluations. 9-17 Hitherto, most of the latter studies either referred to small samples or evaluated single specific aspects of artery dolichoectasia (such as the vessel lumen diameter). In addition, these studies