A5044759229- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Studies on Chitinases and Chitosanases
- Glycogen Storage Diseases and Myoclonus
- Systemic Lupus Erythematosus Research
- Trypanosoma species research and implications
- Vasculitis and related conditions
- Systemic Sclerosis and Related Diseases
- Chronic Lymphocytic Leukemia Research
- Mitochondrial Function and Pathology
- Immunodeficiency and Autoimmune Disorders
- COVID-19 Clinical Research Studies
- Glycosylation and Glycoproteins Research
- Metabolism and Genetic Disorders
- Long-Term Effects of COVID-19
- Sarcoidosis and Beryllium Toxicity Research
- Peripheral Neuropathies and Disorders
- Inflammatory Myopathies and Dermatomyositis
- Skin Diseases and Diabetes
- Myasthenia Gravis and Thymoma
- Eosinophilic Disorders and Syndromes
- Mast cells and histamine
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Health, Medicine and Society
University Hospital of Geneva
2016-2025
University of Geneva
2018-2025
Hôpital Beau-Séjour
2016-2024
Hôpital Saint Joseph
2011-2024
Centre de Recherche Épidémiologie et Statistique
2024
Sorbonne Paris Cité
2024
Université Paris Cité
2024
Délégation Paris 5
2024
Institution Genevoise de Maintien à Domicile
2020
Geneva College
2018
ObjectiveTo determine predictors of in-hospital mortality related to COVID-19 in older patients.DesignRetrospective cohort study.Setting and ParticipantsPatients aged 65 years hospitalized for a diagnosis COVID-19.MethodsData from hospital admission were collected the electronic medical records. Logistic regression Cox proportional hazard models used predict mortality, our primary outcome. Variables at categorized according following domains: demographics, clinical history, comorbidities,...
Clinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described. All patients with known GD, living in France, ≥1 consultations (1980–2010), were included the French GD registry, yielding following 4 groups: entire cohort, clinical description; its subgroups: follow-up visits, investigate complications; recently followed (2009–2010) patients; treated during...
<h3>Objectives</h3> The rarity of early diffuse cutaneous systemic sclerosis (dcSSc) makes randomised controlled trials very difficult. We aimed to use an observational approach compare effectiveness currently used treatment approaches. <h3>Methods</h3> This was a prospective, cohort study dcSSc (within three years onset skin thickening). Clinicians selected one four protocols for each patient: methotrexate, mycophenolate mofetil (MMF), cyclophosphamide or 'no immunosuppressant'. Patients...
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of condition and, as consequence, patients show modified phenotype which reflects their disease are refractory to treatment. More generally, it increasingly recognised information how patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] critical any comprehensive evaluation A new set management goals for GD1 in both trends reflected...
The diagnosis of pneumonia is challenging. Our objective was to assess whether low-dose computed tomography (LDCT) modified the probability diagnosing in elderly patients. We prospectively included patients aged over 65 years with a suspicion treated antimicrobial therapy (AT). All had chest radiograph and LDCT within 72 h inclusion. treating clinician assessed before after scan using Likert scale. An adjudication committee retrospectively rated considered as reference for diagnosis. main...
Our aim was to describe the burden of early dcSSc in terms disability, fatigue and pain European Scleroderma Observational Study cohort, explore associated clinical features. Patients completed questionnaires at study entry, 12 24 months, including HAQ disability index (HAQ-DI), Cochin Hand Function Scale (CHFS), Functional Assessment Chronic Illness Therapy-fatigue Short Form 36 (SF36). Associates examined included modified Rodnan skin score (mRSS), current digital ulcers internal organ...
Our aim was to use the opportunity provided by European Scleroderma Observational Study (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) progressive skin thickness, (2) derive prediction models for progression over 12 months, inform future randomised controlled trials (RCTs).
Gaucher disease (GD) is a rare hereditary disorder caused by deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis challenging owing to wide variability in clinical manifestations and severity symptoms. Many patients may experience marked delays obtaining definitive diagnosis. The two surveys reported herein aimed explore patient journey diagnosis GD from perspectives expert physicians patients. Findings revealed that many experienced diagnostic misdiagnoses, with nearly 1 6...
Lidove O, Kaminsky P, Hachulla E, Leguy‐Seguin V, Lavigne C, Marie I, Maillot F, Serratrice Masseau A, Chérin Cabane J, Noel E; on behalf of the FIMeD investigators. Fabry disease ‘The New Great Imposter’: results French Observatoire in Internal Medicine Departments (FIMeD). (FD) is an X‐linked lysosomal storage disorder due to α ‐galactosidase A deficiency. It associated with a broad range clinical symptoms, resulting frequent misdiagnosis and diagnostic delay, which may impact patient...
Background & aimsTo investigate the association of nutritional risk at admission with length hospital stay (LOS) and mortality in older patients COVID-19.MethodsRetrospective monocentric study an acute geriatric hospital. Data were collected after extensive review medical records was assessed according to Nutritional Risk Screening (NRS). Univariate multivariate (adjusted for age, sex comorbidity burden) Cox proportional-hazard linear regression models used above-mentioned outcomes.ResultsOf...
Meiotic segregation of chromosomes 13 and 14 was studied in the ejaculated spermatozoa three men carrying a translocation der(13;14)(q10;q10). The these patients donor with normal 46,XY karyotype (control) were analysed by two-colour fluorescent in-situ hybridization (FISH) specific chromosomal painting 14, FISH detecting 18 21 triple-colour for X, Y 8. For 1, 2 3, respectively, 81.34, 82.60 88.90% nuclei showed or balanced status, resulting from alternate translocation. rates an unbalanced...
Abstract Background Stroke in the course of coronavirus disease (COVID-19) has been shown to be associated with more severe respiratory symptoms and higher mortality, but little knowledge this regard exists on older populations. We aimed investigate incidence, characteristics, prognosis acute stroke geriatric patients hospitalized COVID-19. Methods A monocentric cross-sectional retrospective study 265 COVID-19 wards. 11/265 presented a episode during hospitalization. Mortality rates...
To confirm that blocking 7-dehydrocholesterol delta 7 reductase (7DHC reductase), as observed in Smith-Lemli-Opitz syndrome (SLOS), induces craniofacial defects, we tested BM15.766, which blocks 7DHC but is chemically unrelated to the holoprosencephaly-inducing teratogen AY9944. Rats were given BM15.766 either methylcellulose from days (D) 1 through D11 (3 treated groups: protocol A) or olive oil D4 D7 (300 mg/kg/d: B). The sera sampled on D0, D3, and D5 D6, D10, D14, D21 measure cholesterol...
Diagnosing pneumonia in emergency departments is challenging because the accuracy of symptoms, signs and laboratory tests limited. As a confirmation test, chest X-ray has significant limitations outperformed by CT-scan. However, obtaining CT-scan all cases suspected drawbacks. We used cohort 200 consecutive elderly patients admitted to hospital for build simple prediction score, which was determine indication performing The reference diagnosis adjudicated experts considering available data,...