Coronary Artery Embolism: Two Case Reports and a Review of the Literature

Coronary embolism (CE) is an uncommon and unique cause of acute myocardial infarction. In this report, we review 216 cases of CE including 2 new cases from our institution. The mean patient age was 52.5 years and 62% of the patients were males. Chest pain was the most common presenting symptom followed by dyspnea, and the most commonly affected vessel was the left anterior descending artery. Leading etiologies of the embolus were atrial fibrillation, septic emboli, and iatrogenic causes. Treatment approaches varied with thrombus aspiration being used in 30% of cases. In-hospital mortality rate was 36% and 13% of the cases were complicated by cerebrovascular accident. CE is a unique pathology that leads to acute myocardial infarction. It portends a high mortality rate and requires a high level of suspicion as symptoms may be misleading. Further research is needed in order to improve recognition and management and to lower associated mortality.     

Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities

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A novel mutation in a case of dominant optic atrophy?

A 39-year-old healthy woman presented for decreased vision at distance and near for 4 years. She also noted a decrease in her color vision. Her best-corrected visual acuities were 20/70 in each eye. Her visual fields were abnormal, and she had bilateral sluggish pupils, impaired color vision, and optic disc pallor. The magnetic resonance imaging of the brain, heavy metal screen, autoimmune work-up, B12, B6, folate, erythrocyte sedimentation rate, rapid plasma reagin, and Lyme titer were all normal. Optical coherence tomography of the macula and electroretinogram were normal; the visual evoked potential was unrecordable in both eyes. She denied a family history of similar ocular issues, and genotyping of the OPA1 gene revealed a novel previously unreported mutation at IVS12+10T >C.     

Kikuchi-Fujimoto Disease as a Differential Diagnosis for Cervical Lymphadenopathy in India: A Case Report and Review of Literature

Cervical Lymphadenopathy has a large list of differential diagnosis. In India, Tuberculosis and Malignant Neoplasms are the most common specific causes for cervical lymph node enlargement. Kikuchi–Fujimoto Disease (KFD), is an uncommon but increasingly reported cause, especially in Asia. Awareness of this condition amongst physicians leads to an accurate diagnosis without the need for expensive and often potentially harmful investigations. The disease is self limiting and responds well to symptomatic treatment.     

Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders

Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no comprehensive published studies examining the role of mitochondrial variation in autism. Therefore, we have sought to comprehensively examine the role of mitochondrial DNA (mtDNA) variation with regard to ASD risk, employing a multi‐phase approach. In phase 1 of our experiment, we examined 132 mtDNA single‐nucleotide polymorphisms (SNPs) genotyped as part of our genome‐wide association studies of ASD. In phase 2 we genotyped the major European mitochondrial haplogroup‐defining variants within an expanded set of autism probands and controls. Finally in phase 3, we resequenced the entire mtDNA in a subset of our Caucasian samples (～400 proband‐father pairs). In each phase we tested whether mitochondrial variation showed evidence of association to ASD. Despite a thorough interrogation of mtDNA variation, we found no evidence to suggest a major role for mtDNA variation in ASD susceptibility. Accordingly, while there may be attractive biological hints suggesting the role of mitochondria in ASD our data indicate that mtDNA variation is not a major contributing factor to the development of ASD.