نتایج جستجو برای: hereditary enzymopathy
تعداد نتایج: 84335 فیلتر نتایج به سال:
Hereditary pancreatitis is a rare form of chronic recurrent pancreatitis. A family, in which 11 members had chronic pancreatitis, five had diabetes, and two had pancreatic cancer, was studied, and hereditary pancreatitis was diagnosed in all patients by demonstrating the mutation in exon 3 of the cationic trypsinogen gene (R117H). The clinical implications of genotypic analysis in hereditary pa...
Hereditary pyropoikilocytosis is a severe hemolytic anemia caused by spectrin deficiency and defective spectrin dimer self-association, typically found in African populations. We describe two Utah families of northern European ancestry including 2 propositi with atypical non-microcytic hereditary pyropoikilocytosis, 7 hereditary elliptocytosis members and one asymptomatic carrier. The underlyin...
PURPOSE Obtaining a detailed family history through detailed pedigree is essential in recognizing hereditary colorectal cancer (CRC) syndromes. This study was performed to assess the current knowledge and practice patterns of surgery residents regarding familial risk of CRC. METHODS A questionnaire survey was performed to evaluate the knowledge and the level of recognition for analyses of fam...
BACKGROUND Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes...
A property of graphs is a non-empty set of graphs. A property P is called hereditary if every subgraph of any graph with property P also has property P. Let P1, . . . ,Pn be properties of graphs. We say that a graph G has property P1◦ · · · ◦Pn if the vertex set of G can be partitioned into n sets V1, . . . , Vn such that the subgraph of G induced by Vi has property Pi; i = 1, . . . , n. A here...
www.aafp.org/afp AMERICAN FAMILY PHYSICIAN 853 Most physicians diagnose only a few cases of hereditary hemochromatosis in their practice because they do not routinely test for iron overload and because many patients with the disorder have no manifestations. It is estimated that the typical primary care physician encounters one patient with hereditary hemochromatosis every two weeks. Iron overlo...
In this paper, we discuss the relation between shellability, sequentially CohenMacaulayness, and partitionability. Especially, our main concern is to see the difference of these properties when we require heredity. For a property P, we say a simplicial complex satisfies hereditary-P if the simplicial complex itself and all the restrictions to subsets of its vertex set satisfy the property P, an...
Congenital haemolytic anaemias are hereditary conditions resulting from an increase in the rate of red cell destruction.1 Four main types of red cell abnormality can cause haemolysis: • cytoskeletal membrane disorders (eg hereditary spherocytosis (HS), hereditary elliptocytosis (HE), hereditary pyropoikilocytosis (HPP)) • disorders of membrane cation transport (eg hereditary stomatocytosis) • e...
Reticulated pigmentation is a unique pigmentary change caused by a heterogeneous group of hereditary and acquired disorders. This pigmentation is characterized by a mottled appearance, with lesions that vary in size and pigmentary content. This review discusses the hereditary group of the reticulated pigmentation disorders, such as dyschromatosis symmetrica hereditaria, dyschromatosis universal...
This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in th...
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