Congenital vitamin K-dependent coagulation factor deficiency is a very rare bleeding disorder, which usually presents with episodes of intracerebral bleed in the first few weeks of life, sometimes leading to a fatal outcome. We report a case of combined factor deficiency of vitamin K-dependent factors in which the patient presented with both intracerebral bleeding, and possibly also thrombosis, and responded to a vitamin K supplement along with fresh frozen plasma.
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http://dx.doi.org/10.1097/01.mbc.0000183634.68071.3b | DOI Listing |
Mol Neurobiol
January 2025
Department of Translational Medicine, Università del Piemonte Orientale, Novara, Italy.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that primarily affects the motor neurons in the brain and spinal cord. While the exact cause of ALS is not fully understood, a combination of genetic and environmental factors is believed to contribute to its development. Growth arrest-specific 6 (Gas6), a vitamin K-dependent protein, has been recognized to enhance oligodendrocytes and neurons' survival and is associated with different kinds of (neuro)inflammatory conditions.
View Article and Find Full Text PDFJ Pediatr Hematol Oncol
December 2024
Pediatrics Clinic, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Background: Rare factor deficiency (RFD) is characterized by a deficiency of factor (F)I, FII, FV, FVII, FX, FXI, FXII, FXIII, or a combined deficiency of FV+FVIII or vitamin K-dependent factors. The prevalence of RFD ranges from 1/1,000,000 to 3,000,000. Combined deficiencies of vitamin K-related factors have been described in 30 families worldwide, and these patients can present with a wide range of clinical symptoms, from mucocutaneous bleeding to life-threatening symptoms such as central nervous system and gastrointestinal bleeding.
View Article and Find Full Text PDFInt J Mol Sci
November 2024
Center of Marine Sciences (CCMAR), University of Algarve, 8005-139 Faro, Portugal.
Matrix Gla protein (MGP) is a vitamin K-dependent γ-carboxylated protein that was initially identified as a physiological inhibitor of ectopic calcification, primarily affecting cartilage and the vascular system. Mutations in the gene were found to be responsible for the Keutel syndrome, a condition characterized by abnormal calcifications in the cartilage, lungs, brain, and vascular system. has been shown to be dysregulated in several tumors, including cervical, ovarian, urogenital, and breast cancers.
View Article and Find Full Text PDFJ Postgrad Med
October 2024
Department of Clinical Laboratory Services, IQRAA International Hospital and Research Center, Malaparamba, Kozhikode, Kerala, India.
A 76-year-old male patient, who underwent a post-aortic valve replacement with a mechanical valve in 2006, was on oral anticoagulant therapy with warfarin, maintaining a stable therapeutic level of anticoagulation until 2022. He had a new diagnosis of ulcerative colitis in 2022, following which he was started on mesalamine. He had been having a supratherapeutic level of anticoagulation, as evidenced by an international normalized ratio (INR) of 12 to 14 on multiple occasions since 2022, leading to gastrointestinal bleeding, necessitating multiple packed red cell transfusions.
View Article and Find Full Text PDFBMC Nephrol
November 2024
Department of Renal Medicine, Aarhus University Hospital, Aarhus, 8200, Denmark.
Background: Patients with chronic kidney disease (CKD) are susceptible to vascular calcification and vitamin K deficiency. Matrix gla protein (MGP) is a potent inhibitor of calcification requiring vitamin K for activation. Inactive MGP, i.
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