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Combined endonasal, endo-orbital and transcranial craniofacial resection of invasive anterior skullbase sinonasal carcinoma: 2D endoscopic video.
J Clin Neurosci
January 2025
Division of Neurosurgery , University of British Columbia, Vancouver, British Columbia, Canada.
Background: Sinonasal malignancies, in which squamous cell carcinomas are the most common are rare and difficult to treat given the location and anatomical structures involved. Sinonasal malignancies often present late due to non-specific and benign symptoms. Partial resections are often associated with poorer outcomes [1].
View Article and Find Full Text PDFBroadening the clinical spectrum of White-Sutton syndrome, implications for co-morbidity with celiac disease in a patient with a novel likely pathogenic variant in the POGZ gene.
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFHistiocytosis are caused by pathogenic myeloid cells, and can be classified as Langerhans cell histiocytosis (LCH) and non-LCH. Erdheim-Chester disease (ECD) is a non-LCH, characterized by multi-organ involvement, typical imaging findings, and confirmatory histological studies. A case with multi-organ involvement and histological confirmation is presented.
View Article and Find Full Text PDFA case of massive hemoptysis caused by immunoglobulin G4-related respiratory disease in adults: case report and review of literature.
Front Immunol
January 2025
Department of Respiratory, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, China.
Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated chronic fibro-inflammatory condition, that can involve multiple systems. Immunoglobulin G4-related respiratory disease (IgG4-RRD) is relatively rare, with non-specific clinical symptoms. Hemoptysis is a rare clinical symptom of IgG4-RRD, and cases of massive hemoptysis in adults have not been reported.
View Article and Find Full Text PDFMycophenolate Mofetil Induced-Colitis: Is it More about Clinical Diagnosis?
Curr Drug Saf
January 2025
Hull and East Yorkshire Hospitals NHS Trust, Department of Elderly/ Frailty Medicine, United Kingdom.
Background: Mycophenolate mofetil (MMF) is an immunosuppressant commonly used for treating autoimmune diseases.
Case Presentation: We report a diagnostically challenging case of MMF-induced colitis in a patient after 3 years of initiation of MMF therapy. A 76-year-old Caucasian female with a history of Chronic inflammatory demyelinating polyneuropathy receiving MMF presented to the hospital with a 7-weeks history of watery diarrhoea and crampy abdominal pains.
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