Carriers in Hemophilia: The Invisible Link between Generations
Keerthi G and Sumitha Elayaperumal*
Keerthi G and Sumitha Elayaperumal*
Factor XII deficiency is a rare condition of the coagulation system with autosomal-recessive inheritance. Affected patients are often asymptomatic and are diagnosed incidentally during preoperative investigations or during hospitalization on the basis of an isolated, prolonged activated partial thromboplastin time (aPTT). We report a 39-year-old female who was admitted to hospital for early artificial abortion and abnormal blood coagulation function. We found a novel nonsense mutation (c.247C>T, p. Gln83*) in one of the exon coding regions of the F12 gene on chromosome 5 in a patient with a prolonged aPTT.
Li Haining1,2, Feng Changzhou1, Zhou Ying1, Zhou Huanhuan1, Yang Jin1, and Zhang Chu1*
Background : Humeral head osteonecrosis is a frequent complication of Sickle Cell Disease (SCD). Little is known about shoulder arthroplasty indications and results in these patients. The aim of this retrospective review is to compare the actual indications and results for SCD to a literature review.
Methods : All shoulder arthroplasties performed on SCD patients between 2016 and 2022 have been evaluated. 17 shoulders in 15 patients were followed up for 2.5 years. Indications, functional and radiological results, and complications were compared to a literature review.
Results : The Constant score significantly improved by 35 points (p =0.016). Patients were finally satisfied with a mean SSV evaluation at 72%. Post-operative complications due to SCD were frequent. There was a bilateral dramatic reverse prosthesis loosening in a patient with severe bone sclerosis due to necrosis. The use of pyrocarbon hemi-arthroplasty is promising and was never described in the literature for SCD shoulder osteonecrosis.
Discussion : Shoulder arthroplasty for collapse humeral head in SCD patients should be considered because of the significant functional improvement that can be obtained. Patients with SCD should be operated in a center with specialized surgeons surrounded by heamatologists to prevent specific complications.
Sébastien ZILBER*, Valentin BAUDRY, and Victor HOUSSET
This article provides insights into the current state of social media in the field of hematology-oncology. It highlights the increasing role of platforms like Twitter and Facebook in facilitating information sharing, patient support, and professional collaboration. The article emphasizes the challenges of maintaining accurate reliable content amidst the abundance of information. Additionally, it discusses the potential benefits of social media and fostering patient engagement, clinical trial recruitment, and knowledge dissemination among healthcare professionals and patients.
Daniel Rosas¹*, Carolina Velez-Mejia², Esteban Toro-Velez³, and Adolfo E Diaz Duque⁴
A 9-year-old boy came to our hospital complaining of headache, vomiting, abdominal pain. Physical examination revealed an increase in submandibular lymph nodes up to 1.5 cm, hepatomegaly.
Tatiyana Konyukhova¹ and Ekaterina Trukhina²*
Keerthi G and Sumitha Elayaperumal*
Pages: 11
Li Haining1,2, Feng Changzhou1, Zhou Ying1, Zhou Huanhuan1, Yang Jin1, and Zhang Chu1*
Pages: 11
Sébastien ZILBER*, Valentin BAUDRY, and Victor HOUSSET
Pages: 11
Daniel Rosas¹*, Carolina Velez-Mejia², Esteban Toro-Velez³, and Adolfo E Diaz Duque⁴
Pages: 11
Tatiyana Konyukhova¹ and Ekaterina Trukhina²*
Pages: 11
Expulsive Suprachoroidal Hemorrhage during Subluxated Lens Surgery: A Case Report
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Director, Interventional Implant Program MedStar Heart & Vascular Institute, Washington, DC, USA
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