2 research outputs found
Fatigue after initiating rivaroxaban for venous thromboembolism
Background
Rivaroxaban was the first new oral anticoagulant approved for treatment of venous thromboembolism (VTE). Clinical trials have shown that rivaroxaban is noninferior to conventional anticoagulation for VTE in efficacy and safety. Increased fatigue after the initiation of rivaroxaban has been observed in clinical practice, but data on this potential side effect are lacking.
Objective
The study aimed to evaluate development of fatigue in patients treated for VTE, comparing rivaroxaban to other anticoagulants.
Methods
Patients were prospectively recruited after a diagnosis of VTE. The Fatigue Questionnaire was used to determine the level of fatigue at baseline, at 3 weeks of treatment, and either at 1 month after the discontinuation of treatment if the treatment was discontinued after 3 months or at 6 months if treatment was continued beyond this time. Data was analyzed by a linear mixed model.
Results
A total of 126 patients were included. Mean age was 59 years; 77 (61%) were males. Fiftyâseven patients (45%) were diagnosed with deep vein thrombosis, 48 (38%) with pulmonary embolism, and 21 (17%) with both. Predicted changes in fatigue scores from baseline to the last measurement were â0.007 and â2.49 for the rivaroxaban and the otherâanticoagulants groups, respectively, neither of which were statistically significant. No difference was detected between rivaroxaban and the otherâanticoagulants group at any time point, including subgroup analysis comparing over and under 6 months of treatment duration.
Conclusion
In this small study, our results suggest no increase in the level of fatigue after the initiation of treatment with rivaroxaban for VTE.publishedVersio
Novel mutation-deletion in the PHOX2B gene of the patient diagnosed with Neuroblastoma, Hirschsprung's Disease, and Congenital Central Hypoventilation Syndrome (NB-HSCR-CCHS) Cluster
INTRODUCTION: Neuroblastoma (NB), Hirschsprung disease (HSCR), Congenital Central Hypoventilation Syndrome (CCHS), clinically referred as the NB-HSCR-CCHS cluster, are genetic disorders linked to mutations in the PHOX2B gene on chromosome 4p12. SPECIFIC AIM: The specific aim of this project is to define the PHOX2B gene mutations as the genomic basis for the clinical manifestations of the NB-HSCR-CCHS cluster. PATIENT: A one day old male patient presented to the Jagiellonian University Medical College (JUMC), American Children Hospital, neonatal Intensive Care Unit (ICU) due to abdominal distention, vomiting, and severe apneic episodes. With the preliminary diagnosis of the NB-HSCR-CCHS, the blood and tissue samples were acquired from the child, as well as from the childâs parents. All procedures were pursued in accordance with the Declaration of Helsinki, with the patientâs Guardian Informed Consent and the approval from the Institutional Review Board. GENETIC/GENOMIC METHODS: Karyotyping was analyzed based upon Giemsa banding. The patientâs genomic DNA was extracted from peripheral blood and amplified by polymerase chain reaction. Direct microfluidic Sanger sequencing was performed on the genomic DNA amplicons. These procedures were pursued in addition to the routine clinical examinations and tests. RESULTS: G-banding showed the normal 46 XY karyotype. However, genomic sequencing revealed a novel, heterozygous deletion (8 nucleotides: c.699â706, del8) in exon 3 of the PHOX2B gene on chromosome 4. This led to the frame-shift mutation and malfunctioning gene expression product. CONCLUSION: Herein, we report a novel PHOX2B gene mutation in the patient diagnosed with the NB-HSCR-CCHS cluster. The resulting gene expression product may be a contributor to the clinical manifestations of these genetic disorders. It adds to the library of the mutations linked to this syndrome. Consequently, we suggest that screening for the PHOX2B mutations becomes an integral part of genetic counseling, genomic sequencing of fetal circulating nucleic acids and / or genomes of circulating fetal cells prenatally, while preparing supportive therapy upon delivery, as well as on neonates' genomes of intubated infants, when breathing difficulties occur upon extubation. Further, we hypothesize that PHOX2B may be considered as a potential target for gene therapy