نتایج جستجو برای: hereditary

تعداد نتایج: 84275  

2002
DAVID J. BRANDHAGEN

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...

2015
Masahiro Hachimori

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...

Journal: :Clinical medicine 2007
Shameem Mahmood David Rees

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...

2017
H Alshaikh F Alsaif S Aldukhi

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...

Journal: :International journal of laboratory hematology 2013
M-J King A Zanella

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...

Journal: :Dermatology online journal 2017
Tiffany Y Loh Philip R Cohen

Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes." Although diffuse hyperpigme...

Journal: :Gut 1999
I Nishimori M Kamakura K Fujikawa-Adachi M Morita S Onishi K Yokoyama I Makino H Ishida M Yamamoto S Watanabe M Ogawa

BACKGROUND/AIMS Single-point mutations in the cationic trypsinogen gene have been reported in hereditary pancreatitis kindreds in the white population. The aim of the present study was to investigate whether similar gene mutations are present in Japanese hereditary pancreatitis kindreds. METHODS All five exons of the cationic trypsinogen gene were amplified by polymerase chain reaction and se...

Journal: :Acta dermatovenerologica Croatica : ADC 2010
Lea Salamon Jadranka Morović-Vergles

Hereditary angioedema is a rare genetic disorder resulting from an inherited deficiency or dysfunction of the C1 inhibitor. It is characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swelling involving different organs. Hereditary angioedema may present with diverse clinical pictures, even within families with the same mutation. We present a fir...

Journal: :Neuromuscular disorders : NMD 2014
E Calpena D Martínez-Rubio J Arpa J J García-Peñas D Montaner J Dopazo F Palau C Espinós

Hereditary recurrent neuropathies are uncommon. Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene. We report a three-generation family presenting a hereditar...

Journal: :Molecular oncology 2009
Henry T Lynch Murray Joseph Casey Carrie L Snyder Chhanda Bewtra Jane F Lynch Matthew Butts Andrew K Godwin

Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die from malignancy ascribed to ovarian origin. The bulk of these hereditary cases fits the hereditary breast-ovarian cancer syndrome, while virtually all of the remainder will be consonant with the Lynch syndrome, disorders which are autosoma...

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