background caroli disease is a rare inherited disorder characterized by dilatation of the intrahepatic bile ducts. the presented case is a female middle age patient that during clinical and para-clinical evaluation for an unrelated compliant found that has caroli disease. although, the disease is hereditary but the family history was negative. after three years follow up, no involvement of kidn...

Introduction. In most cases, in patients with hereditary fibrinogen deficiency, clinical manifestations are represented by bleeding of varying intensity and localization. However, the picture deficiency can also be thrombosis. Aim — to characterize detected mutations genes analyze prothrombotic factors hypofibrinogenemia Materials methods. Forty-nine were observed, which 46 had no history throm...

What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

Morbus Osler-Weber-Rendu syndrome also known as Hereditary hemorrhagic telangiectasia (HHT) and Meckel's diverticulum is a rare combination disorder. Our case presented with the recurrent obscure gastrointestinal (GI) bleeding for several years. He came with a massive active lower gastrointestinal bleeding. Ultimatively, he underwent an exploratory laparotomy along with intraoperative colonosco...

Abstract Background and Aims:‎ Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population. The most common symptom is mucocutaneous bleeding. Recently, studies conducted on healthy people showed that the H817Q mutation that previously known to cause von Willebrand...

parkinsonism is used to describe a syndrome manifested by any combination of six cardinal features: tremor at rest, rigidity, bradykinesia, loss of postural reflexes, flexed posture and the freezing. decreased dopaminergic neurotransmission in the basal ganglia is the core biochemical pathology in parkinsonism. hereditary parkinsonism includes various heredodegenerative diseases such as hallerv...

background: patients with hereditary bleeding disorders are at risk of viral infection such as hepatitis c due to frequent transfusion of blood and blood products. this study aimed to determine the prevalence of hepatitis c and associated risk factors in hemophilic patients in isfahan, the second big province in iran. methods: in a descriptive study, patients with hemophilia in isfahan province...