Scrub typhus, caused by the obligate intracellular bacterium Orientia tsutsugamushi(O. tsutsugamushi), is an acute febrile illness. While neurological complications are known, hearing loss is an uncommon manifestation, and coinfection with Epstein-Barr…
Primary colon squamous cell carcinoma (SCC) is an extremely rare malignancy and associated with a poor prognosis. This case report describes a patient with deficient mismatch repair/microsatellite instability-high (dMMR/MSI-H) ascending colon SCC, who …
We report a rare case of genetically confirmed Gitelman syndrome (GS) in a Chinese female patient presenting with systemic inflammatory manifestations and a heterozygous MEFV variant of uncertain significance. The patient initially exhibited arthritis,…
Lung transplantation for lung cancer remains exploratory but may benefit patients with concurrent end-stage lung disease. We present a 47-year-old Asian male with Hermansky-Pudlak syndrome-associated pulmonary fibrosis (HPS-PF), a congenital right-side…
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease primarily affecting intertriginous regions, and emerging evidence suggests that systemic autoinflammation (“metainflammation”) contributes to its clinical heterogeneity. We report two…
In this paper, we report a case of sequential immune-related adverse events induced by envafolimab in a patient with small cell lung cancer (SCLC), including immune checkpoint inhibitor-associated diabetes mellitus (ICI-DM), diabetic ketosis (DK), and …
BackgroundThe TREX1 gene is fundamental for the removal of cytosolic DNA and the preservation of immune tolerance. Mutations within this gene are implicated in a range of disorders, such as Retinal Vasculopathy with Cerebral Leukoencephalopathy and Sys…
ObjectiveTo investigate the etiology of recurrent severe pneumonia and pleural effusion in a pediatric patient through pathogenic gene testing and bioinformatics analysis.MethodsClinical characteristics and laboratory findings were retrospectively revi…
Neuronal intranuclear inclusion disease (NIID) can initially present with gastrointestinal symptoms as the sole or primary manifestation for decades before neurological signs emerge. We report the case of a 61-year-old woman with a 22-year history of d…
Nimotuzumab, a humanized immunoglobulin G1 monoclonal antibody, is mainly used in combination with radiotherapy for the treatment of stage III/IV nasopharyngeal carcinoma (NPC) or locally advanced head and neck squamous-cell carcinoma (HNSCC) with posi…
