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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 PDFPregnancy-related chronic type A aortic dissection highlights the importance of thorough prenatal maternal examination.
J Cardiothorac Surg
January 2025
Semmelweis University Heart and Vascular Centre, Budapest, 1122, Hungary.
Background: Aortic dissection occurs rarely during pregnancy but carries a significantly high vital risk for both the mother and the fetus. Early diagnosis and treatment are critical for a successful outcome.
Case Presentation: A 32-year-old pregnant woman at 31 weeks of gestation began experiencing shortness of breath, chest pain, and palpitations, which were attributed to an anxiety disorder she had been previously diagnosed with.
Primary 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.
Prediction of pulmonary function decline in fibrous interstitial lung abnormalities based on quantitative chest CT parameters.
BMC Med Imaging
January 2025
Department of Radiology, Huadong Hospital, Fudan University, Shanghai, 200040, China.
Background: Interstitial lung abnormalities (ILA) are a proposed imaging concept. Fibrous ILA have a higher risk of progression and death. Clinically, computed tomography (CT) examination is a frequently used and convenient method compared with pulmonary function tests.
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