A study into the genetic basis of aspirin resistance in Pakistani patients with coronary artery disease.

Aspirin is a key player in the management and prevention of stroke and myocardial infarction in patients with atherothrombosis. About 12% of Pakistanis suffering from coronary artery disease are resistant to aspirin's effects. Clinical, biochemical and genetic factors are known to be responsible for this phenomenon. We conducted this study to investigate whether previously studied polymorphisms in COX-1, GPIIIa, GPIa and P2RYI genes could be the cause of aspirin resistance in our population. Blood samples were collected from 29 aspirin non-responders and 60 ethnically matched responders. Aspirin response assay was performed on IMPACT-R and DNA prepared from blood using the phenol: chloroform method. Genotyping was carried out for four SNPS including COX-1 C50T (rs3842787), GPIIIA PIA1/A2 polymorphism (rs5918), GPIA C807T (rs1126643) and p2RY1 C893T (rs1065776). No statistically significant differences were observed in the allele or genotype frequencies between the aspirin non responders and responders indicating the possible involvement of different genetic determinants of aspirin resistance in our population. This study paves the way for further research into the field of aspirin resistance in Pakistan.

Detection of Subclinical Cardiac Dysfunction in Patients With Sickle Cell Disease Using Speckle-Tracking Echocardiography.

Sickle cell disease (SCD) is characterized by chronic anemia and recurrent ischemia-reperfusion episodes, which can lead to high-output heart failure. The impact of SCD on cardiac structure and function remains underinvestigated. We conducted a single-institution retrospective analysis of clinical and echocardiographic data from patients with hemoglobin SS SCD (SCD-SS) between January 2016 and June 2022. Patients with known heart failure, left ventricular (LV) ejection fraction <50%, moderate or severe valvular heart disease, congenital heart disease, established coronary artery disease, diabetes mellitus, hypertension, or coexistent lung disease were excluded. Compared with healthy controls (n = 28), patients with SCD-SS (n = 66) had a significantly higher left atrial (LA) volume index (35.7 vs 23.9 ml/m², p <0.001) and average E/e' (7.4 vs 6.5, p = 0.003) but lower average e' (12.3 vs 13.6 cm/s, p = 0.047) and LA reservoir strain (32.9% vs 42.4%, p <0.001). Patients with SCD-SS had higher LV end-diastolic (132.5 vs 104.1 ml, p <0.001) and LV end-systolic volumes (51.0 vs 43.8 ml, p = 0.017) with reduced LV global longitudinal strain (17.6% vs 20.0%, p <0.001). In addition, patients with SCD-SS showed reduced right ventricular (RV) global longitudinal strain (19.7% vs 22.8%, p <0.001) in the setting of normal RV tricuspid annular plane systolic excursion. Maximal systolic tricuspid regurgitation velocity (231 vs 202 cm/s, p <0.001) and right atrial area (16.6 vs 12.8 cm², p <0.001) were statistically greater in SCD-SS. Hemoglobin and hematocrit negatively correlated with LA volume index, average E/e', LV end-diastolic and LV end-systolic volumes. In conclusion, patients with SCD-SS had notable differences in cardiac chamber size and impaired LV, RV, and LA strain compared with healthy controls. Further investigations are needed to assess the impact of these variables on SCD clinical course and prognosis.

Giant cell myocarditis.

Giant cell myocarditis (GCM) usually affects previously healthy adults and is a rapidly progressive and frequently fatal disease. It has a median survival of 3 months to death or transplant without appropriate therapy. Hence, early diagnosis is critical, with evidence showing rapidly instituted cyclosporine-based immunosuppression can improve transplant-free survival. Although transplant is an effective strategy, GCM can recur in 25% of transplanted hearts. We present a case of GCM in a patient who presented with conduction abnormalities and fulminant heart failure.

A Case of Isolated External Iliac Vein Compression Syndrome and the Role of Advanced Imaging.

Isolated external iliac vein compression syndrome is an uncommon cause of nonthrombotic venous stenosis that causes chronic venous hypertension leading to painful swelling, skin discoloration, and ulcer formation. We present a case of an 86-year old man with refractory lower extremity edema for several years who had been treated with diuretics and antibiotics without relief of symptoms. With the help of invasive and noninvasive imaging modalities, we were able to diagnose and manage isolated nonthrombotic left external iliac vein stenosis as a result of ipsilateral external iliac artery compression.

A 75-Year-Old Female with Dyspnea: An Unusual Presentation of Diffuse Large B-Cell Lymphoma.

Diffuse large B-cell lymphoma (DLBCL) is a common variant of non-Hodgkin lymphoma (NHL). It usually presents as a rapidly enlarging mass. Numerous presentations involving the gastrointestinal tract, bone, and the central nervous system have been reported in the past including both primary and secondary involvement of organs. A 75-year-old lady was found to have a pericardial effusion while being evaluated for shortness of breath. A therapeutic pericardial tap was positive for pan-B cell markers. The patient's detailed radiological studies failed to show a primary tumor. We report this unusual presentation of DLBCL as a pericardial effusion without a primary source in a patient with mild shortness of breath.

Bilateral orbital myeloid sarcoma preceding acute myeloid leukemia in an adult: a case report and review of the literature.

BACKGROUND: Acute myeloid leukemia is typically a disease of the older population and presents mostly in the fifth decade of life. Myeloid sarcoma is a rare initial presentation of acute myeloid leukemia. Previously it has only been documented in children and younger patients. CASE PRESENTATION: We present an unusual case of retro-orbital myeloid sarcoma as an initial presentation of acute myeloid leukemia in a 43-year-old Caucasian man, with rearrangement of chromosome 11q23 involving the MLL gene. CONCLUSIONS: We present an unusual case of retro-orbital myeloid sarcoma as an initial presentation of acute myeloid leukemia in a 43-year-old man, with rearrangement of chromosome 11q23 involving the MLL gene.