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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFPrimary extraskeletal osteosarcoma of rectal mesentery: a rare case and literature review.
World J Surg Oncol
January 2025
The Department of General Surgery, The Second Hospital of Jilin University, Changchun, 130041, China.
Background: Extraskeletal osteosarcoma (ESOS) is a rare kind of sarcoma with a low preoperative diagnosis and a poor prognosis. ESOS arising from abdominal mesentery is extremely rare. Increasing diagnostic methods and standardizing treatment protocols are crucial issues of ESOS.
View Article and Find Full Text PDFEctopic thyroid tissue in the airway: a case report.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.
Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.
Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFLeflunomide-induced drug reaction eosinophilia systemic symptoms and haemophagocytic lymphohistiocytosis overlap syndrome with rheumatoid arthritis.
BMJ Case Rep
January 2025
Department of Infectious Diseases, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical manifestations. We present a case of a woman in her late 40s with rheumatoid arthritis who developed DRESS/HLH overlap syndrome after starting hydroxychloroquine and leflunomide therapy. Despite corticosteroid treatment, her condition worsened, necessitating etoposide therapy.
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