Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan. Electronic address: nishino@ncnp.go.jp.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
From the Department of Learning, Informatics and Medical Education, Karolinska Institutet; Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine, Karolinska Institutet; Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet, Solna, Sweden; Division of Rheumatology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University, Seoul, Korea; Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Perth; The Notre Dame University Fremantle, Fremantle, Australia; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, the Netherlands; Center for Global Health, University of Ottawa, Ottawa, Ontario, Canada.
M. Regardt, PhD, Occupational Therapist, Department of Learning, Informatics and Medical Education, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital; C.A. Mecoli, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; J.K. Park, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital; I. de Groot, Patient Research Partner; C. Sarver, Patient Research Partner; M. Needham, MD, Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, and The Notre Dame University; M. de Visser, MD, PhD, Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience; B. Shea, MSN, Center for Global Health, University of Ottawa; C.O. Bingham III, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; I.E. Lundberg, MD, PhD, Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet; Y.W. Song, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University; L. Christopher-Stine, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; H. Alexanderson, PhD, Physiotherapist, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine Solna, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital. M. Regardt and Dr. C. Mecoli are co-first authors.
Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan; Department of Pediatrics, Showa General Hospital, Tokyo, Kodaira, Japan.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France. isabelle.marty@univ-grenoble-alpes.fr.
Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. matteo.garibaldi@uniroma1.it.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy. matteo.garibaldi@uniroma1.it.
Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France, CHU Raymond-Poincaré Paris Ouest, Garches, France.
U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among ...
In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-n...
Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on...
This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreove...
In 2022, the International Association of Bioethics (IAB) announced that the 17th World Congress of Bioethics would be held in Doha, Qatar. In response to ethical concerns expressed about the Qatar se...
This study aimed to investigate the epidemiological characteristics and treatment options of proximal humerus fractures at a level one trauma center and to compare our data with the current literature...
A retrospective review was conducted on all patients diagnosed and treated for proximal humerus fractures at Hamad General Hospital, a level one trauma center, between January 2018 and December 2019. ...
A total of 190 patients with a mean age of 52.4 years were included; 56.8% were males. The incidence of proximal humerus fracture was 4.1/100,000 per year. Falling from a standing height was the most ...
In summary, the incidence of proximal humerus fractures during the two-year study period was found to be 4.1 per 100,000 persons per year. Our results showed a lower incidence of proximal humerus frac...
IV....
Worldwide, 5-10% of people with chronic hepatitis B virus infection are co-infected with hepatitis D virus. In Qatar, there are no data on hepatitis D virus infection among patients positive for hepat...
To determine the seroprevalence of hepatitis D virus infection among patients with chronic hepatitis B virus infection in Qatar and assess the characteristics of these patients....
This was a retrospective cohort study of all HBsAg-positive individuals tested for hepatitis D virus between 1 January 2010 and 29 December 2019 within the Hamad Medical Corporation. Data were retriev...
Of the 2348 HBsAg-positive patients, 125 were positive for hepatitis D virus (seroprevalence 5.3%). The median age of hepatitis D positive patients was significantly higher than for hepatitis D negati...
Hepatitis D virus infection is associated with lower hepatitis B virus viraemia and more advanced liver disease in the study population....
The aim of the paper is to provide an overview of available HIV case reporting and treatment data for in Qatar for the period 2015-2020....
HIV case reporting data were analyzed by sex and mode of transmission. To construct HIV care continuum from the data available, we obtained information on the total number of HIV diagnosed patients on...
A total of 515 HIV cases were reported to the Ministry of Public Health since beginning of reporting in 1986, and that included Qatari nationals and expatriate residents diagnosed in Qatar. There was ...
Due to increase in newly reported HIV cases, there is a need to develop an effective HIV strategic information system in Qatar and data-driven and targeted national HIV response....
This study investigated the relevance of the revised 2-factor study process questionnaire (R-SPQ-2F) for exploring medical students' approaches to learning in Qatar and identify how factors like gende...
The sample consisted of 108 medical students (44% male, 56% female) from all four years of medical school at Weill Cornell Medicine-Qatar (WCM-Q). Participants completed the 20-item R-SPQ-2F questionn...
Statistical analysis revealed significant differences in deep learning approaches across year levels for both men and women. Additionally, educational attainment played a significant role in students'...
Based on structural equation modeling, this cross-verification study supports the R-SPQ-2F instrument and offers additional evidence for its robustness and application to medical education. These find...
This systematic review aims to cover studies addressing the topic of burnout among the various types of healthcare professionals in Qatar. PubMed, Scopus and Google Scholar were searched with no filte...
Nuclear medicine (NM) started in Qatar in the mid-1980s with a 1-head γ-camera in Hamad General Hospital. However, Qatar is expanding, and now Hamad Medical Corp. has 2 NM departments and 1 PET/CT Cen...
We investigated the spectrum of infection and risk factors for invasive fungal disease due to Candida auris (CA) in Qatar....
We performed structured chart reviews on individuals with any positive CA culture between May 2019 and December 2022 at three tertiary care hospitals in Qatar. Invasive CA disease (ICAD) was defined a...
Among 331 eligible individuals, median age was 56 years, 83.1% were male, 70.7% were non-Qataris, and 37.5% had ≥ 3 comorbidities at baseline. Overall, 86.4% were deemed to have colonization and 13.6%...
Invasive Candida auris Disease is associated with longer hospital stay and higher mortality. Severely ill persons on mechanical ventilation should be especially monitored for development of ICAD....
We characterized and identified the genetic and antigenic variations of circulating rotavirus strains in comparison to used rotavirus vaccines....
Rotavirus-positive samples (n = 231) were collected and analyzed. The VP7 and VP4 genes were sequenced and analyzed against the rotavirus vaccine strains. Antigenic variations were illustrated on the ...
In all, 59.7% of the hospitalized children were vaccinated, of which only 57.2% received two doses. There were no significant differences between the vaccinated and non-vaccinated groups in terms of c...
The current use of Rotarix® vaccine might not be effective in preventing the infection due to the higher numbers of G3-associated cases. The wide range of mutations in the antigenic epitopes compared ...
The reduced rotavirus vaccine effectiveness necessitate regular evaluation of the vaccine content to ensure optimal protection. We characterized and identified the genetic and antigenic variations of ...
