Spondylo costal dysostosis (SCD) is a genetic skeletal disorder characterized by a variety of costo-vertebral malformations. SCD with type I split cord malformation (SCM) have been reported in the literature. We report an unusual association of SCD with type II SCM. Imaging studies revealed multiple vertebral segmentations, rib malformations, spina bifida and low lying cord with type II SCM at the D12-L3 level. She underwent detethering of the cord. To the best of our knowledge, this is the first report of the association of SCD with type II SCM.
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http://dx.doi.org/10.4103/1817-1745.139320 | DOI Listing |
BMC Health Serv Res
January 2025
Faculty of Medicine, University of Lubumbashi, Lubumbashi, Democratic Republic of the Congo.
Introduction: Sickle cell disease (SCD) is a global public health priority due to its high morbidity and mortality. In the Democratic Republic of the Congo (DRC), effective care for this disease depends on the availability of resources and the level of knowledge of healthcare workers (HCWs). However, in Bukavu, there is limited data available on these two crucial aspects, which are vital for enhancing the care of patients with SCD.
View Article and Find Full Text PDFBlood
January 2025
New York Blood Center, New York, New York, United States.
Babesiosis in sickle cell disease (SCD) is marked by severe anemia but the underlying red blood cell (RBC) rheological parameters remain largely undefined. Here, we describe altered RBC deformability from both primary (host RBC sickle hemoglobin mediated) and secondary changes (Babesia parasite infection mediated) to the RBC membrane using wild type AA, sickle trait AS and sickle SS RBCs. Our ektacytometry (LORRCA) analysis demonstrates that the changes in the host RBC bio-mechanical properties, pre- and post- Babesia infection, reside on a spectrum of severity, with wild type infected AA cells, despite showing a significant reduction of deformability under both shear and osmolarity gradients, exhibiting only a mild phenotype; compared to infected AS RBCs which show median changes in deformability and infected SS RBCs which exhibit the most dramatic impact of infection on cellular rheology, including an increase in Point of Sickling values.
View Article and Find Full Text PDFBiology (Basel)
January 2025
Key Laboratory of Tropical and Subtropical Fishery Resources Application and Cultivation, Ministry of Agriculture and Rural Affairs, Pearl River Fisheries Research Institute, Chinese Academy of Fishery Sciences, Guangzhou 510380, China.
The Chinese soft-shelled turtle (), a type of warm-water reptile, is frequently chosen as the model animal to understand how organisms respond to environmental stressors. However, the responsive mechanism of to natural cold stress is unclear, especially in terms of metabolic pattern and molecular pathways. Herein, plasma biochemical, hepatic morphological, apoptotic, transcriptomic, and metabolomic detection methods were performed to investigate the response of to acute cold stress.
View Article and Find Full Text PDFPlant Foods Hum Nutr
January 2025
Qinghai Provincial Key Laboratory of Tibetan Medicine Research and CAS Key Laboratory of Tibetan Medicine Research, Northwest Institute of Plateau Biology, Chinese Academy of Science, Xining, 810008, P.R. China.
NAFLD is one of the most common and rapidly increasing liver diseases. Procyanidin C1 and procyanidin C2, B-type trimeric procyanidins, show beneficial effects on regulating lipid metabolism. However, the mechanism underlying these effects remain elusive.
View Article and Find Full Text PDFTransfusion
January 2025
Ottawa Hospital Research Institute, Ottawa Hospital Center for Transfusion, Ottawa, Ontario, Canada.
Background: Red blood cell (RBC) utilization in patients with sickle cell disease (SCD) in Canada is poorly defined. This study describes RBC utilization in an SCD cohort at a single Canadian center.
Study Design And Methods: All adults with SCD who received care at the Ottawa Hospital between January 2006 and May 2019 were included, and followed until December 2021.
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