Results 121 to 130 of about 10,056 (300)

X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and Review of the Literature. [PDF]

Cureus
Laranja S, Piscalho I, Caetano M, Coelho I, Gaspar L, Virtuoso MJ.   +5 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Building alliances for early detection of immunodeficiencies: from primary care to hematology. [PDF]

Front Immunol
Rivière JG, Pasquet M, Gambineri E.
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Atopic dermatitis in inborn errors of immunity: at the interface of immunodeficiency and immune dysregulation. [PDF]

Immunol Res
Szczawińska-Popłonyk A.
europepmc   +1 more source

Development of Artificial Intelligence for Quantitative Assessment of Nasal Inflammatory Cytology in Chronic Rhinitis by Whole‐Slide Images

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinitis (CR) is currently recognized as a syndrome that manifests in different phenotypes. We aimed to establish an artificial intelligence system (quantitative assessment of nasal inflammatory cytology, QANIC) on the basis of whole‐slide images (WSIs) to enable quantitative assessment of nasal inflammatory cells.
Xu Zhang, Xu Xu, Weiwei Liu, Long Qin, Yu Song, Jingyun Li, Lin Xi, Chengshuo Wang, Luo Zhang, Yuan Zhang   +9 more
wiley   +1 more source

Recurrent severe COVID-19 with Good's syndrome in a patient after thymoma surgery: A case report. [PDF]

Medicine (Baltimore)
Zhang H, Liu H.
europepmc   +1 more source

Multimorbidity and animal models

Animal Models and Experimental Medicine, EarlyView.
Multimorbidity, defined as the coexistence of ≥2 chronic conditions, is associated with aging, genetics, and environmental factors. Animal models in multimorbidity research span three tiers: simple organisms for initial screening → rodents for mechanistic analysis → large mammals for clinical prediction.
Xinpei Wang, Yakun Ren, Xingjiu Yang, Mengyuan Li, Junxiu Liu, Xiaoyan Du, Wen Wang, Ran Gao   +7 more
wiley   +1 more source

Ectopic Adrenocorticotropic Hormone Syndrome Secondary to Undifferentiated Pleomorphic Sarcoma of the Thigh: A Rare Paraneoplastic Manifestation. [PDF]

Cureus
Guney G, Yildiz I.
europepmc   +1 more source

Why We Do Not Recommend That People With High‐Risk Smoldering Myeloma Receive Treatment

American Journal of Hematology, EarlyView.
Ghulam Rehman Mohyuddin, Mackenzie Lemieux, Rajshekhar Chakraborty, Morie Gertz   +3 more
wiley   +1 more source