Results 211 to 220 of about 2,414,789 (346)

A toddler with Addison disease: a rare presentation of autoimmune polyglandular syndrome type 1

, 2023
W. A. Y. A. Wickramaarachchi, Madushika Dewasurendra, Sumudu Nimali Seneviratne   +2 more
openalex   +2 more sources

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Acalculous cholecystitis: A rare presentation of leptospirosis progressing to Weil's disease

, 2011
Peter George, Narasimha Hegde
openalex   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Advancing the frontier of rare disease modeling: a critical appraisal of in silico technologies. [PDF]

NPJ Digit Med
Pistollato F, Furtmann F, Marshall LJ, Parvatam S, Turner J, Musuamba FT, Russo G, Pappalardo F.   +7 more
europepmc   +1 more source

Kawasaki disease as a rare cause of suppurative sterile lymphadenitis in pediatrics

Sarah Magdy Abdelmohsen, Walid Hussein, Marwa T. Hussien   +2 more
openalex   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

The rare disease burden: a multidimensional challenge. [PDF]

Acta Biochim Pol
Cyske Z, Radzanowska-Alenowicz E, Rintz E, Gaffke L, Pierzynowska K.   +4 more
europepmc   +1 more source

Brain Eating Amoeba (PAM) A Rare Disease: Systematic Review

Vijayaraddi Vandali, Sonal Bhavane, Rekha KB, Jasmine J., Nandini R., Sathya Shenbega Priya, Kusum   +6 more
openalex   +2 more sources