ABSTRACT
Vertebral artery dissection (VAD) is a common cause of stroke in middle-aged individuals. Patients with VAD usually describe a trivial minor neck trauma preceding the event. Such traumas may be associated with spinal manipulation or sudden movements of the neck. Our case is a 43-year-old lady who presented with a history of sudden-onset dizziness, dysarthria, nausea/vomiting, tinnitus, and imbalance. Two days prior to her presentation, she experienced a new-onset moderate to severe intensity headache along with neck pain. The patient mentioned a first-time use of a home massage device three weeks prior to headache onset. After investigations, the patient was diagnosed with VAD, and treatment was initiated. She was discharged in stable condition. With the recent increased popularity of home massage devices, we report this case to raise awareness about the safe use of massage devices in order to prevent the occurrence of such injuries and complications.
ABSTRACT
Disease severity of sickle cell anemia is highly variable, and it is commonly accepted that fetal hemoglobin (HbF) levels play a major role as an ameliorating factor. Investigation of genetic variants have identified several genes to be the principal influencers of HbF regulation. Here, we further elucidated the association of rs4527238 and rs35685045 of ANTXR1 genes in the context of HbF level variance in sickle cell anemia patients of the Arab-Indian haplotype. Samples from 630 sickle cell anemia patients were analyzed for the mutations at 2 specific locations of the ANTXR1 gene by TaqMan®-based real-time PCR. The CC genotype (p = 0.018) of rs4527238 and the TT genotype (p = 0.048) of rs35685045 of ANTXR1 were found to be significantly associated with low HbF expression. The frequency of the CC genotype of rs4527238 was observed to be high in the low HbF patient group compared to the high HbF group (p = 0.009). Likewise, the frequency of the TT genotype of rs35685045 was also high among the low HbF group (p = 0.017). The ANTXR1 genetic mutations and the association with HbF expression in the Arab-Indian haplotype sickle cell patients revealed that the ANTXR1 gene may be a major HbF modulator leading to potential therapeutic options that should be further explored.
