Background
Atrial fibrillation (
AF
) is a common arrhythmia seen in clinical practice. Occasionally, no common risk factors are present in patients with this arrhythmia. This suggests the potential underlying role of genetic factors associated with predisposition to developing
AF
.
Methods and Results
We conducted a comprehensive review of the literature through large online libraries, including PubMed. Many different potassium and sodium channel mutations have been discussed in their relation to
AF
. There have also been non–ion channel mutations that have been linked to
AF
. Genome‐wide association studies have helped in identifying potential links between single‐nucleotide polymorphisms and
AF
. Ancestry studies have also highlighted a role of genetics in
AF
. Blacks with a higher percentage of European ancestry are at higher risk of developing
AF
. The emerging field of ablatogenomics involves the use of genetic profiles in their relation to recurrence of
AF
after catheter ablation.
Conclusions
The evidence for the underlying role of genetics in
AF
continues to expand. Ultimately, the role of genetics in risk stratification of
AF
and its recurrence is of significant interest. No established risk scores that are useful in clinical practice are present to date.
The combination of cyclophosphamide and topotecan (cyclo/topo) has shown objective responses in relapsed Ewing sarcoma, but the response duration is not well documented. We reviewed characteristics and outcome of 14 patients with Ewing sarcoma, treated uniformly at a single institution and offered cyclo/topo at first relapse. Six patients (43%) had relapse at distant sites. All patients received first-line salvage therapy with cyclophosphamide 250 mg/m and topotecan 0.75 mg/m, daily for 5 days repeated every 21 days. The median number of cycles was 4 (range 1 to 10). All toxicities were manageable, the most common being transient cytopenias. There were also 4 episodes of febrile neutropenia, and 3 episodes of gross hematuria. Response was assessable in 13 patients and showed progressive disease in 6 (46%), stable disease in 4 (31%), and partial response in 3 (23%). Nine patients had local control, consisting of radical surgery in 2, radiation in 3, and a combination in 4 patients. Response, when it occurred, was maintained for a median of 8 months (range, 4 to 28 mo). Four patients (29%) are alive at 3, 7, 9, and 110 months after relapse; 1 is receiving cyclo/topo, 1 is on third-line therapy, and 2 are in second and fourth remission. The low toxicity of this combination, and the lack of sustained responses, warrant its investigation in combination with targeted or novel therapeutic agents in relapsed disease.
The use of aspirin, as part of a dual antiplatelet therapy regimen, is an established standard following coronary stenting in patients suffering from acute coronary syndrome (ACS). However, in glucose-6-phosphate dehydrogenase (G6PD) deficient patients, precaution is always taken with aspirin use, due to the risk of haemolysis. We reviewed all previous cases of G6PD deficient patients with ACS, in addition to a review of the available literature, to better understand the safety of aspirin use in this population. To date, there are no reported cases of haemolysis following aspirin use in this patient group and no guideline is established to date.
Vitamin D deficiency has become an increasing focus of clinical interest, especially in understanding its associations with obesity in adults. The pathological associations linking the two appear to demonstrate complex cellular inflammatory, hormonal and genetic pathways. Enhanced understanding at both microcellular and clinical levels will help clarify the role of obesity in the development of vitamin D deficiency.
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