Results 91 to 100 of about 38,761 (232)
Abstract This case report describes pituitary abscess syndrome (PAS) in a 20‐month‐old Blonde d'Aquitaine heifer with cranial nerve deficits (V, VII, VIII, IX, X and XII) associated with facial hemiparesis, head tilt, ataxia and dysphagia, pneumonia and otitis interna.
Chloé Saada +4 more
wiley +1 more source
ABSTRACT Background IgG4‐related disease (IgG4‐RD) is a systemic, immune‐mediated, fibroinflammatory disorder with multiorgan involvement and variable clinical presentation, often creating diagnostic difficulty. Myasthenia gravis (MG) is an antibody‐mediated autoimmune disorder of the neuromuscular junction, most commonly associated with anti ...
Yumiko Yoshida +4 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Pedro Redondo
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Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review
Kearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO).
Jiaqi Zhang +4 more
doaj +1 more source
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Background/aimsTo evaluate the prevalence of ptosis, strabismus and the combination of both after glaucoma surgery and determine which kind of surgery is most likely to be linked to these complications.MethodsA total of 705 clinical records of patients ...
Carlo Catti +11 more
doaj +1 more source
ABSTRACT Complex chromosomal rearrangements (CCRs) are rare chromosomal structural abnormalities that are often difficult to be detected. Chromosome conformation‐based karyotyping (c‐Moka) is an emerging technology designed to analyze the three‐dimensional structure of chromosomes, thereby identifying various types of chromosomal structural variations.
Duo Zhou +6 more
wiley +1 more source
A Case Report of Juvenile Myasthenia Gravis; Misdiagnosis and Considerations
ABSTRACT Juvenile myasthenia gravis (JMG) is a rare autoimmune disease acquired in childhood, comprising 8%–15% of all myasthenia gravis cases depending on geographic and ethnic populations. Ocular myasthenia gravis presents as ptosis with extraocular movement restriction and is frequently misdiagnosed as third nerve palsy or congenital ptosis when ...
Elaheh Heidari, Amin Saeidinia
wiley +1 more source

