Williams-Beuren's Syndrome: A Case Report

Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem

Laparoscopic Repair of Morgagni Hernia: Three-Case Presentation and the Literature

Introduction. Morgagni hernia is a rare form of congenital diaphragmatic hernia. Case Presentation. We present three cases of Morgagni hernia with GI symptoms treated by laparoscopic surgery. Discussion. Hernial sac was excised in two cases and left in situ in one case. There was no recurrence in symptoms after 30 months from surgery

Echocardiographic Evaluation of the Effects of a Single Bolus of Erythropoietin on Reducing Ischemia-Reperfusion Injuries during Coronary Artery Bypass Graft Surgery; A Randomized, Double-Blind, Placebo-Control Study

Background: Erythropoietin (EPO) is known as a regulating hormone for the production of red blood cells, called erythropoiesis. Some studies have shown that EPO exerts some non-hematopoietic protective effects on ischemia-reperfusion injuries in myocytes. Using echocardiography, we evaluated the effect of EPO infusion on reducing ischemia-reperfusion injuries and improvement of the cardiac function shortly after coronary artery bypass graft surgery (CABG). Methods: Forty-three patients were recruited in this study and randomly divided into two groups: the EPO group, receiving standard medication and CABG surgery plus EPO (700 IU/kg), and the control group, receiving standard medication and CABG surgery plus normal saline (10 cc) as placebo. The cardiac function was assessed through echocardiography before as well as at 4 and 30 days after CABG. Results: Echocardiography indicated that the ejection fraction had no differences between the EPO and control groups at 4 days (47.05±6.29 vs. 45.90±4.97; P=0.334) and 30 days after surgery (47.27±28 vs. 46.62±5.7; P=0.69). There were no differences between the EPO and control groups in the wall motion score index at 4 (P=0.83) and 30 days after surgery (P=0.902). In the EPO group, there was a reduction in left ventricular end-systolic and end-diastolic diameters (LVESD and LVEDD, respectively), as compared to the control group. Conclusion: Our results indicated that perioperative exogenous EPO infusion could not improve the ventricular function and wall motion index in the immediate post-CABG weeks. Nevertheless, a reduction in LVEDD and LVESD at 4 days and 30 days after CABG in the EPO group, by comparison with the control group, suggested that EPO correlated with a reduction in the remodeling of myocytes and reperfusion injuries early after CABG. Trial Registration Number: 138809102799N

Clinical presentation of coronary arteriovenous fistula according to age and anatomic orientation

Background: Coronary arteriovenous fistulas (CAVFs) are direct connections from one or more coronary arteries to cardiac chambers or a large vessel. They are mostly of congenital origin. The aim of this study was to describe clinical presentation and also delineate the course and management of CAVF. Methods: Clinical data, chest x-rays, echocardiographic and angiographic evaluation of 40 patients with congenital CAVF during 1990 to 2008 were reviewed retrospectively. Results: Seventeen patients were ≤ 20 years old (42.5%) were mostly asymptomatic, and twenty tree cases were older than 20 years old (57.5%), mostly symptomatic (P<0.05). Twenty one (52.5%) patients had pure CAVF and nineteen (47.5%) patients with associated intarcardiac congenital heart disease (15%) or acquired valvular and coronary arteries diseases (32.5%). CAVFs mostly originated from left anterior descending artery (LAD) (42.5%) and mostly drained into the main pulmonary artery (MPA) (35 %). Twenty-four patients underwent CAVF surgical ligation. From twenty-one patients with pure CAVF, eight (38%) patients were complicated by congestive heart failure and aneurism formation of fistula.Conclusion: Unlike some previous reports, in our study, the most prevalent origin site for CAVFs was the left anterior descending (LAD). Most patients with CAVFs especially those who went first diagnosed before 20 years old were asymptomatic. On the other hand, as the continuous murmur is not always detected in children or infants, consequently, cases of spontaneous closure may remain undetected. All symptomatic and asymptomatic patients with moderate to severe shunting should be operated on and minimal morbidity and good surgical results could be expected

Induced Pluripotent Stem Cell-Derived Extracellular Vesicles Promote Wound Repair in a Diabetic Mouse Model via an Anti-Inflammatory Immunomodulatory Mechanism

Extracellular vesicles (EVs) derived from mesenchymal stem/stromal cells (MSCs) have recently been explored in clinical trials for treatment of diseases with complex pathophysiologies. However, production of MSC EVs is currently hampered by donor-specific characteristics and limited ex vivo expansion capabilities before decreased potency, thus restricting their potential as a scalable and reproducible therapeutic. Induced pluripotent stem cells (iPSCs) represent a self-renewing source for obtaining differentiated iPSC-derived MSCs (iMSCs), circumventing both scalability and donor variability concerns for therapeutic EV production. Thus, it is initially sought to evaluate the therapeutic potential of iMSC EVs. Interestingly, while utilizing undifferentiated iPSC EVs as a control, it is found that their vascularization bioactivity is similar and their anti-inflammatory bioactivity is superior to donor-matched iMSC EVs in cell-based assays. To supplement this initial in vitro bioactivity screen, a diabetic wound healing mouse model where both the pro-vascularization and anti-inflammatory activity of these EVs would be beneficial is employed. In this in vivo model, iPSC EVs more effectively mediate inflammation resolution within the wound bed. Combined with the lack of additional differentiation steps required for iMSC generation, these results support the use of undifferentiated iPSCs as a source for therapeutic EV production with respect to both scalability and efficacy.https://doi.org/10.1002/adhm.20230087