Results 31 to 40 of about 38,761 (232)
Immune Checkpoint Inhibitor–Related Myositis and Associated Triad Overlap Syndrome
Arthritis Care &Research, EarlyView.Objective Immune checkpoint inhibitor (ICI) myositis is a rare but a highly morbid condition, particularly with the ICI myositis triad syndrome of myositis, myocarditis, and myasthenia gravis. We report the clinical characteristics of ICI myositis and all‐cause mortality in these patients.
Selene Rubino +9 more
wiley +1 more source
Cysticercosis of midbrain presenting with fluctuating ptosis
Annals of Indian Academy of Neurology, 2011 Fluctuating ptosis is usually caused by Myasthenia gravis. There are a few case reports of central causes of fluctuating ptosis. A 58-year-old man presented with fluctuating ptosis of one year duration.
M Netravathi +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Managing Marcus Gunn Ptosis - Our Approach
Delhi Journal of Ophthalmology, 2017 Marcus Gunn ptosis is a congenital synkinetic ptosis due to an abnormal innervation of the levator muscle. Aim of the surgical treatment is to eliminate jaw winking phenomenon and correct ptosis. Moderate to severe jaw winking ptosis is best corrected by
A. K. Grover, Shaloo Bageja
doaj +1 more source
Tolosa-Hunt Syndrome in a Young Subject
Delhi Journal of Ophthalmology, 2022 Tolosa-Hunt syndrome (THS) is a non-specific inflammation of the cavernous sinus or superior orbital fissure which causes painful, usually unilateral ophthalmoparesis or ophthalmoplegia. A 22-year-old lady presented with diminution of vision, pain in her
Rajiv Garg +3 more
doaj +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen +5 more
wiley +1 more source