Resistin associated with higher cardiovascular events in intermediate grace score of acute coronary syndrome

Previous studies revealed that inflammatory biomarkers have a role in the clinical outcomes of acute coronary syndromes (ACS) and also in prediction of cardiovascular events using GRACE score. Resistin, a recently identified inflammatory biomarker, also has a role in clinical outcomes of ACS but its role related to GRACE score risk stratification is unknown. Three risk stratifications of ACS based on GRACE scores were used i.e. low, intermediate, and high.  Some studies reported that inflammatory biomarkers have a role in cardiovascular events of patients with low risk GRACE scores, but their role in the patients with intermediate risk still needs to be elucidated. This study aimed to investigate the role of resistin in cardiovascular events of ACS patients with intermediate risk GRACE score. This was an observational study using a cross-sectional design involving sixty-three patients with ACS who fulfilled the inclusion and exclusion criteria. Blood samples were drawn 24 h after onset. Resistin level was analyzed and classified according to its median values. The cardiovascular event was defined as mortality, ischemic events, acute heart failure or arrhythmia during hospitalization. The result showed that cardiovascular events were significantly higher in patients with resistin levels higher than median i.e. 23.8% compared to those with resistin levels similar or lower than median i.e. 11.1% (OR 3.348, 95%CI: 1.125-10.007 p=0.027). It can be concluded high resistin level is associated with an increase of cardiovascular events of ACS with intermediate risk GRACE score

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Background: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes EDMD, also causes many other diseases. There is inter and intrafamilial variability in clinical presentations. Precise diagnosis can help in patient surveillance, especially before they present with cardiac problems. Hence, this paper shows how a molecular work-out by next-generation sequencing can help this group of disorders. Case presentation: A 2-year-10-month-old Javanese boy presented to our clinic with weakness in lower limbs and difficulty climbing stairs. The clinical features of the boy were Gower’s sign, waddling gait and high CK level. His father presented with elbow contractures and heels, toe walking and weakness of limbs, pelvic, and peroneus muscles. Exome sequencing on this patient detected a pathogenic variant in the LMNA gene (NM_170707: c.C1357T: NP_733821: p.Arg453Trp) that has been reported to cause Autosomal Dominant Emery-Dreifuss muscular dystrophy. Further examination showed total atrioventricular block and atrial fibrillation in the father. Conclusion: EDMD is a rare disabling muscular disease that poses a diagnostic challenge. Family history work-up and thorough neuromuscular physical examinations are needed. Early diagnosis is essential to recognize orthopaedic and cardiac complications, improving the clinical management and prognosis of the disease. Exome sequencing could successfully determine pathogenic variants to provide a conclusive diagnosis