Results 121 to 130 of about 917,021 (263)

Evaluation of Differences in Imaging Findings on Stress-MRI in Throwing Athletes With and Without a History of Ulnar Collateral Ligament Reconstruction. [PDF]

Orthop J Sports Med
Patel M, Schwartz K, Schenk M, Lund P, Crenshaw K, Caplinger R, Raasch W, Waslewski G, Lederman E, Shah A.   +9 more
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

What is the best way to diagnose Dengue haemorrhagic fever early? Routine application of ultrasound for early detection of Dengue haemorrhagic fever

International Journal of Infectious Diseases, 2020
L. Fernando, H. Wijesinghe, A. Pathmeswaran, D. Silva, M. Kumarihamy, T. Silva, R. Jayasuriya, D. Peiris, N. Jayasinghe, T. Somaratne   +9 more
doaj   +1 more source

Intent to Accept a Valley Fever Vaccine for Humans and Dogs and Factors Influencing Intended Uptake: A Cross-Sectional Survey in Two Endemic Regions. [PDF]

J Fungi (Basel)
Hermann JN, Kruger SE, Wodniak N, Holland J, Janosick V, Sanchez A, Zuniga-Moya JC, Brucker D, Torres B, Melo KM, Oliveros E, Kuran R, D'Assumpcao C, Johnson RH, Pelt RSV, Bhattachan A, Wagner AL, Head JR.   +17 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Fever of Unknown Origin as an Isolated Manifestation of Ulcerative Colitis Despite Clinical and Radiographic Remission: A Case Report. [PDF]

Cureus
Memon M.
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Fever and fever syndromes

, 2020
Contains fulltext : 220316.pdf (Publisher’s version ) (Open Access)
openaire   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Prevention of catheter associated urinary tract infections: Assessment of knowledge and practices among nurses in a tertiary care centre in Nigeria

International Journal of Infectious Diseases, 2020
E.A. Tobin, C. Nnadi, S. Ogedegbe, M. Okonofua, N. Akpede, G. Odigie, E. Osagiede, A. Ukpabio   +7 more
doaj   +1 more source