Factor XII (FXII), a clotting enzyme that can initiate coagulation in vitro, has long been considered dispensable for normal blood clotting in vivo because hereditary deficiencies in FXII are not associated with spontaneous or excessive bleeding. However, new studies show that mice lacking FXII are protected against arterial thrombosis (obstructive clot formation) and stroke. Thus, FXII could b...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disorder (estimated prevalence of 1 per 1000–1 2500 live births)1 characterized by development and growth multiple bilateral cysts eventually leading to end-stage renal replacement therapy.1

hereditary elliptocytosis and hereditary pyropoikilocytosis. Blood Cells Mol Dis 1996;22:254–8. 8 Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin Hematol 2004;41:165–72. 9 Carella M, Stewart G, Ajetunmobi JF et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus ...

AIM The aim of this report is to present a case of Glanzmann thrombasthenia (GT) with oral manifestations requiring periodontal management along with a discussion of the clinical, hematologic, and molecular level features of the disease. BACKGROUND GT is a rare hematological disorder with oral manifestations affecting platelets and clotting. It is characterized by spontaneous bleeding from mu...

In summary, the causes of GI bleeding in infancy and childhood are varied, ranging from congenital and hereditary disorders to those more commonly seen in the adult population. Many causes of GI bleeding in the pediatric population are restricted to a narrow range regarding age of onset, frequently enabling the physician to narrow the differential diagnosis before proceeding with invasive inves...

Routine screening for endometrial carcinoma is currently not justified. Postmenopausal women need to be educated about the importance of seeking attention if any vaginal bleeding occurs. All postmenopausal bleeding requires review and appropriate investigation. Women taking tamoxifen have a higher risk of endometrial cancer and should report any bleeding or spotting; however, ultrasound screeni...