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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.
Small bowel obstruction after caesarean section: an unusual complication of surgical haemostatic agent.
BMJ Case Rep
January 2025
Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, India
An unusual case of small bowel obstruction (SBO) due to haemostatic gelatin sponge placed during caesarean delivery is presented. A primigravida in their 30s underwent caesarean delivery at 39 weeks, and developed symptoms of SBO from the second postoperative day. Given the worsening condition of the patient and increasing abdominal girth, CT of the abdomen and pelvis was done which revealed features of SBO.
View Article and Find Full Text PDFMaxillary MRSA osteomyelitis in a paediatric patient: non-surgical management.
BMJ Case Rep
January 2025
Dentistry, All India Institute of Medical Sciences Mangalagiri, Mangalagiri, Andhra Pradesh, India
Methicillin-resistant (MRSA) osteomyelitis of the maxilla is a rare condition in paediatric patients, with limited evidence available for optimal treatment protocols. We present the case of a paediatric patient in the early childhood age group with post-traumatic maxillary osteomyelitis caused by MRSA. The child developed facial swelling following trauma, and imaging revealed maxillary sinus wall thickening and bone erosions.
View Article and Find Full Text PDFCardioembolic stroke caused by atrial myxoma.
BMJ Case Rep
January 2025
ARHC/Stroke Service, Naas General Hospital, Naas, Kildare, Ireland.
A woman in her early 60s presented with multiple transient neurological symptoms over the course of 20 months, including transient loss of power to her right lower limb. Initial workup with CT brain scan, carotid dopplers and ECG revealed no abnormality; however, MRI of the brain suggested recent ischaemic events in separate cortical territories. Subsequent transoesophageal echocardiogram revealed a large mobile mass histologically confirmed to be an atrial myxoma.
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