Results 151 to 160 of about 658,933 (385)

Ambulatory Case of Lethargic (Epidemic) Encephalitis followed by Symptomatic Paralysis Agitans. [PDF]

, 1921
F. Parkes Weber
openalex   +1 more source

Ergonomic Standards for Pedestrian Areas for Disabled People: Methodology and Sample Identification [PDF]

, 1988
This project is a TRRL research contract, the aim of which is to produce guidance on the design of pedestrian areas and footways for elderly and disabled people.
Berrett, B., Leake, G.R., May, A.D., Whelan, J.   +3 more
core  

Cow‐Related Injuries in Wisconsin During 2017−2023

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Introduction The dairy industry–a key industry for the economy–remains a potentially hazardous industry across the nation. The literature on animal‐related injuries in the agriculture industry is sparse. This analysis aimed to describe cow‐related injuries, the utilization of workers' compensation, and the circumstances of the injuries ...
Komi K. S. Modji, Katherine McCoy, Paul D. Creswell, Morris R. Collin, Carrie Tomasallo, Sheryl Bedno   +5 more
wiley   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Incidence of symptomatic image‐confirmed venous thromboembolism in outpatients managed in a hospital‐led COVID‐19 virtual ward

eJHaem, 2021
Susan Shapiro, Karim Fouad Alber, Joshua Morton, George Wallis, Meriel Britton, Alex Bunn, Hashem Cheema, Saman Jalilzadeh Afshari, Ei Chae Zun Lin, Oliver Madge, Saniya Naseer, Esther Ng, Alexander Pora, Abbas Sardar, Andrew Brent, Daniel Lasserson   +15 more
doaj   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Cardiologist-level arrhythmia detection and classification in ambulatory electrocardiograms using a deep neural network

Nature Network Boston, 2019
Awni Y. Hannun, Pranav Rajpurkar, Masoumeh Haghpanahi, G. Tison, Codie Bourn, M. Turakhia, A. Ng   +6 more
semanticscholar   +1 more source

International Profiles of Health Care Systems [PDF]

, 2010
Compares the healthcare systems of Australia, Canada, Denmark, England, France, Germany, Italy, the Netherlands, New Zealand, Norway, Sweden, Switzerland, and the United States, including spending, use of health information technology, and ...

core  

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source