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homocystinuria/otyłość

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Protein kinase Cβ deficiency attenuates obesity syndrome of ob/ob mice by promoting white adipose tissue remodeling.

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To explore the role of leptin in PKCβ action and to determine the protective potential of PKCβ deficiency on profound obesity, double knockout (DBKO) mice lacking PKCβ and ob genes were created, and key parameters of metabolism and body composition were studied. DBKO mice had similar caloric intake
Hydrogen sulfide (H2S) is an essential neuromodulator, generates by cystathionine β synthase (CBS) or 3-mecaptopyruvate sulfurtransferase (3MST) in the brain. H2S can mediate paraventricular nucleus (PVN) neuron activity, and regulate neuroendocrine hormones secretion. On the other hand, CBS

[Overgrowth with and without obesity: clinical and molecular principles].

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Somatic overgrowth is a complex and heterogeneous pathology that is only partially understood, although developments in molecular biology have allowed the discovery of the aetiological basis of some of these conditions. The differential diagnosis of a patient with a possible variant of normality, a
Coronary vascular disease is one facet of a generalized disturbance of vascular function present throughout the vascular tree. Dysfunction of the endothelium leads to thickening of the intima and media of the vessel wall of large and medium-sized muscular arteries and large elastic arteries, such as

Tall stature in children and adolescents

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Tall stature is usually defined as a height beyond 97th percentile or more than 2 SD above the mean height for age and sex in a defined population. Familiar tall stature, also known as constitutional tall stature, is the most common cause of tall stature. Overnutrition, obesity, also usually causes

Determinants of F2-isoprostane biosynthesis and inhibition in man.

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Several cardiovascular risk factors are characterized by the coexistence of low-grade inflammation, enhanced oxidative stress and lipid peroxidation. It has been hypothesized that F2-isoprostanes, a product of in vivo lipid peroxidation, may transduce the effects of metabolic and hemodynamic

[Can blood homocysteine explain the family history of vascular diseases?].

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OBJECTIVE Family history of vascular disease is an important risk factor for vascular disease, independent of conventional risk factors. Homocysteinemia, a newly defined risk factor, is caused by genetics, such as cystathionine beta synthase deficiencies, and metabolic deficiencies. With the present

Oxidant stress, inflammation and atherogenesis.

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Low-grade inflammation, enhanced oxidant stress and lipid peroxidation have been shown in association with increased cardiovascular risk associated with cardiovascular events. It has been hypothesized that the low-grade inflammatory state characterizing metabolic disorders such as obesity,

Intima-media thickness measurements in children with cardiovascular risk factors.

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Measuring intima-media thickness (IMT) is now a standard diagnostic procedure in assessing cardiovascular risk and hypertensive target-organ damage (TOD) in adults. There is also an increasing number of pediatric publications evaluating IMT in children from high-risk groups, such as those with
BACKGROUND Betaine (trimethylglycine) is found in several tissues in humans. It is involved in homocysteine metabolism as an alternative methyl donor and is used in the treatment of homocystinuria in humans. In pigs, betaine decreases the amount of adipose tissue. OBJECTIVE The aim of the study was

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

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CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown. However, their importance was underlined by findings that mutations in conserved residues within them cause a

A review on coronary artery disease, its risk factors, and therapeutics.

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Coronary artery disease (CAD) is one of the major cardiovascular diseases affecting the global human population. This disease has been proved to be the major cause of death in both the developed and developing countries. Lifestyle, environmental factors, and genetic factors pose as risk factors for
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