Brugada Syndrome (BS) is a hereditary disorder characterized by primary electrical abnormality, absence of structural heart disease, an elevated risk sudden death, polymorphous ventricular tachycardia, and fibrillation, which mainly affects young men

Children with symptoms of bleeding and bruising are commonly seen in clinical practice. Primary care providers should be able to decide when and whether evaluation for bleeding disorder is warranted. This decision depends on one's index of suspicion for bleeding disorder based on history, physical examination, and screening laboratory investigations. Knowledge of the hemostatic physiology is es...

congenital factor x deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. thromboembolic events have not been reported in patients with factor x deficiency yet. herein, we report a patient with factor x deficiency who had recurrent venous thromboembolic events.

We have discovered a novel canine hereditary bleeding disorder with the characteristic features of Scott syndrome, a rare defect of platelet procoagulant activity. Affected dogs were from a single, inbred colony and experienced clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery. The hemostatic abnormalities identified were ...

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial...

OBJECTIVE The extent that inherited bleeding disorders affect; number, size and location of bruises in young children <6 years. DESIGN Prospective, longitudinal, observational study. SETTING Community. PATIENTS 105 children with bleeding disorders, were compared with 328 without a bleeding disorder and classified by mobility: premobile (non-rolling/rolling over/sitting), early mobile (cra...

Telangiectasia may be identified by visual inspection during physical examination of the skin and oral cavity or by endoscopy. Diagnosis is made after clinical examination and genetic testing based on the Curacao criteria: telangiectasia in the face, hands or oral cavity; recurrent epistaxis; arteriovenous malformations with visceral involvement; and a positive family history. Diagnosis is conf...

Hemophilia A is a hereditary disorder caused by various mutations in factor VIII gene resulting in either a severe deficit or total lack of the corresponding activity. Recent success in gene therapy of a related disease, hemophilia B, gives new hope that similar success can be achieved for hemophilia A as well. To develop a gene therapy strategy for the latter, a variety of model systems are ne...