نتایج جستجو برای: family history fh
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OBJECTIVE Alzheimer's disease (AD) research typically focuses on memory. However, executive functioning (EF) deficits are also common among AD patients; these deficits are associated with decreased functioning in activities of daily living, an important criterion in diagnosing AD. A classic test of EF ability, the Wisconsin Card Sort Test (WCST), has demonstrated sensitivity to differentiating ...
Cerebral blood flow (CBF) provides an indication of the metabolic status of the cortex and may have utility in elucidating preclinical brain changes in persons at risk for Alzheimer's disease (AD) and related diseases. In this study, we investigated CBF in 327 well-characterized adults including patients with AD (n = 28), patients with amnestic mild cognitive impairment (aMCI, n = 23), older co...
Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by premature cardiovascular disease. It is one of the most common metabolic disorders affecting humans. There are two clinical manifestations: the milder heterozygous form and more severe homozygous form. Despite posing a significant health risk, FH is inadequately diagnosed and managed. As the clinica...
A 60-year-old Japanese woman presented to our hospital with more than 10 cutaneous tumors intermittent pain on her both arms. The first appeared five years before. They gradually increased in number and size the past two years, getting painful touch. Multiple firm dark-brown papules nodules ranging from 0.5 2 cm were arranged patient received total hysterectomy because of multiple uterine fibro...
Frequency hopping (FH) sequences play a key role in frequency hopping spread spectrum communication systems. It is important to find FH sequences which have simultaneously good Hamming correlation,large family size and large period. In this paper, a new set of FH sequences with large period is proposed, and the Hamming correlation distribution of the new set is investigated. The construction of...
OBJECTIVE This study compares a novel approach using systematic family screening for patients in Iceland who have familial hypercholesterolemia (FH) with conventional proband screening and assesses the sensitivity and specificity of diagnosing FH by cholesterol measurements compared with mutational testing of family members. METHODS AND RESULTS Probands with the I4T+2C mutation were traced to...
Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as a high-fat diet or lack of exercise. There...
Furcatin hydrolase (FH) is a unique disaccharide-specific acuminosidase, which hydrolyzes furcatin (p-allylphenyl 6-O-beta-D-apiofuranosyl-beta-D-glucopyranoside (acuminoside)) into p-allylphenol and the disaccharide acuminose. We have isolated a cDNA coding for FH from Viburnum furcatum leaves. The open reading frame in the cDNA encoded a 538-amino acid polypeptide including a putative chlorop...
BACKGROUND ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with PKD2 mutations predicting later onset of ESRF by up to 20 years. We therefore screened a cohort of ADPKD patients attending a nephrology out-patient clinic for PKD2 muta...
Primary aldosteronism is the most frequent cause of endocrine hypertension. Three forms of familial hyperaldosteronism (FH) have been described, named FH-I to -III. Recently, a mutation of KCNJ5 has been shown to be associated with FH-III, whereas the cause of FH-II is still unknown. In this study we searched for mutations in KCNJ5 in 46 patients from 21 families with FH, in which FH-I was excl...
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