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http://dx.doi.org/10.4103/joacp.JOACP_282_20 | DOI Listing |
J Vector Borne Dis
January 2025
Department of Internal Medicine (ID Division), All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Dengue hemorrhagic fever (DHF) typically presents with various bleeding manifestations such as epistaxis, gum bleeding, and gastrointestinal bleeding. However, spontaneous large muscle hematoma formation is a rare complication. This case report discusses a patient with DHF who developed bilateral psoas muscle hematomas, a very uncommon presentation.
View Article and Find Full Text PDFHum Vaccin Immunother
December 2025
Institute of Pathological Anatomy, Faculty of Medicine, Comenius University in Bratislava and University Hospital in Bratislava, Bratislava, Slovakia.
Considering the increasing use of immune checkpoint inhibitors in cancer treatment, our aim is to report a rare cutaneous immune-related adverse event induced by PD-1 inhibitor pembrolizumab and provide a brief overview of pembrolizumab-induced subacute cutaneous lupus erythematosus (SCLE) cases in the literature. We report a 67-year-old woman with oropharyngeal squamous cell carcinoma who developed SCLE during treatment with pembrolizumab. After 18 weeks (sixth cycle) of pembrolizumab immunotherapy, a widespread pruritic erythematous rash evaluated as grade 3 immune-related adverse event appeared primarily on the patient's limbs.
View Article and Find Full Text PDFBackground: Cardiac arrest is a critical condition that can occur unexpectedly in prehospital settings. In rare instances, patients may experience a phenomenon known as autoresuscitation, or the Lazarus phenomenon, where spontaneous circulation resumes after resuscitation efforts have ceased.
Case Presentation: A 90-year-old woman suffered prehospital cardiac arrest.
Mol Genet Genomic Med
January 2025
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.
Background: Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a rare, heterogeneous, genetic eye disease associated with severe congenital visual impairment. RPE65, one of the causative genes for LCA, encodes retinoid isomerohydrolase, an enzyme that plays a critical role in regenerating visual pigment in photoreceptor cells.
Methods: Exome sequencing (ES) was performed on a patient with suspected LCA.
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