Results 91 to 100 of about 38,761 (232)

Mycoplasma bovis involved in pituitary abscess syndrome in a beef heifer concomitantly infected with haemoparasites

open access: yesVeterinary Record Case Reports, Volume 14, Issue 3, August 2026.
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

IgG4‐Related Disease Overlapping With Anti‐Acetylcholine Receptor Antibody–Positive Myasthenia Gravis

open access: yesClinical and Experimental Neuroimmunology, Volume 17, Issue 3, August 2026.
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

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
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

open access: yesFrontiers in Medicine
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

Ptosis [PDF]

open access: yesAustralian and New Zealand Journal of Ophthalmology, 1976
openaire   +2 more sources

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
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

Ocular movement abnormalities and ptosis after glaucoma surgery: A retrospective decade long analysis.

open access: yesPLoS ONE
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

Identification of Complex Chromosomal Rearrangement Involving Chromosomes 10, 18, and 19 in a Family Undergoing Prenatal Diagnosis: Case Report

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
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

open access: yesClinical Case Reports, Volume 14, Issue 7, July 2026.
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

Home - About - Disclaimer - Privacy