thalassemia/lihavuus

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Hypertriglyceridemia thalassemia syndrome: a report of 4 cases.

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Hypertriglyceridemia in children can be familial or acquired. Acquired forms of hypertriglyceridemia in children may be associated with several other diseases obesity, diabetes mellitus, uremia/dialysis, hypothyroidism, nephrotic syndrome, drugs etc. Hypertriglyceridemia with β-thalassemia major is

Relationship between chronic transfusion therapy and body composition in subjects with thalassemia.

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OBJECTIVE To measure body composition in patients with thalassemia and explore its relationship to abnormal growth and bone mass. METHODS We conducted a cross-sectional, multicenter study. Fat, lean, and bone mineral density (BMD) were assessed with dual-energy x-ray absorptiometry. Medical history,

Nutritional status among primary school children in rural Sri Lanka; a public health challenge for a country with high child health standards.

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Nutritional status of pre adolescent children is not widely studied in Sri Lanka. The purpose of this study was to determine the nutritional status among pre-adolescent school children in a rural province of Sri Lanka. A school based cross sectional study was carried out in North Central Province in

Completely skewed X-inactivation in a mentally retarded young female with pseudohypoparathyroidism type IB and juvenile renin-dependent hypertension.

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Genetic analysis of the GNAS gene was performed in a patient with idiopathic renin-dependent hypertension, PTH resistance, and Albright's hereditary osteodystrophy-like characteristics such as a round face, short stature, obesity, and mental retardation (IQ, 49). Mutational analysis showed no

Iron overload and cofactors with special reference to alcohol, hepatitis C virus infection and steatosis/insulin resistance.

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There are several cofactors which affect body iron metabolism and accelerate iron overload. Alcohol and hepatic viral infections are the most typical examples for clarifying the role of cofactors in iron overload. In these conditions, iron is deposited in hepatocytes and Kupffer cells and reactive

Rapidly progressive pancreatic lipomatosis in a young adult patient with transfusion-dependent myelodysplastic syndrome.

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Pancreatic lipomatosis is defined as deposition of fat cells in pancreatic parenchyma. Although the etiology of this condition is still unclear, it is not uncommon in the elderly, obese individuals, and a variety of transfusion-dependent hematologic diseases such as beta-thalassemia major.

Pleiotropic actions of iron balance in diabetes mellitus.

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As an essential element, iron plays a central role in many physiological processes, including redox balance, inflammation, energy metabolism, and environment sensing. Perturbations in iron homeostasis are associated with several conditions, including hyperglycemia and diabetes, both of which have

Pulmonary thromboembolism in childhood: a single-center experience from Turkey.

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OBJECTIVE This study was designed to evaluate the clinical characteristics, acquired and congenital risk factors, treatment strategies, and long-term outcome in pediatric pulmonary thromboembolism (PTE) cases followed in our center in Turkey. METHODS Of the total 470 pediatric patients with

AAV-mediated gene transfer to skeletal muscle.

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Adeno-associated viral (AAV) vectors are derived from a nonpathogenic, replication-deficient virus with a small (~4.7-kb) single-stranded DNA genome. AAV vectors are devoid of viral-coding sequences and may efficiently transfer genes to nondividing cells such as muscle fibers or hepatocytes

Metabolic syndrome in patients with hematological diseases.

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The term metabolic syndrome (MS) defines a clustering of cardiovascular risk factors, formerly known as syndrome X. There is some debate about the diagnostic criteria; but the most widely accepted framework is that defined by the National Cholesterol Education Program Adult Treatment Panel III,

Continuous glucose monitoring system and new era of early diagnosis of diabetes in high risk groups.

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Continuous glucose monitoring (CGM) systems are an emerging technology that allows frequent glucose measurements to monitor glucose trends in real time. Their use as a diagnostic tool is still developing and appears to be promising. Combining intermittent glucose self-monitoring (SGM) and CGM

Drug Resistance in Hepatitis C Virus: Future Prospects and Strategies to Combat It

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Induction of highly pathogenic hepatitis C virus (HCV) causes chronic hepatitis round the world. This virus is easily prone to developing resistance against antiviral drugs because of two viral polymerases that do not possess the proofreading and overlapping reading frame abilities. There is more

Predictors of cerebral blood flow in patients with and without anemia.

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Sickle cell disease (SCD) is the most common cause of stroke in childhood and results primarily from a mismatch of cerebral oxygen supply and demand rather than arterial obstruction. However, resting cerebral blood flow (CBF) has not been examined in the general African American population, in whom

Crosstalk between Oxidative and Nitrosative Stress and Arterial Stiffness.

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BACKGROUND Arterial stiffness, the expression of reduced arterial elasticity, is an effective predictor of cardiovascular disorders. Oxidative stress is an imbalance between exposure to toxic reactive oxygen species (ROS) and antioxidant systems. The increase in reactive nitrogen species (RNS) is

The expanding phenotypes of cohesinopathies: one ring to rule them all!

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Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The

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