xanthomatosis/murtall

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Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2.

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Logáil Isteach / Cláraigh

Soft-drink diabetic ketosis, characterized by acute onset ketosis induced by excessive ingestion of sugar-containing drinks, is often seen in obese, young patients, even with undiagnosed type 2 diabetes. We herein report a 15-year-old obese patient with the apolipoprotein E4/2 phenotype, in whom

Serum lipid and lipoprotein profiles in patients with xanthomas: a correlative study on xanthoma and atherosclerosis (I).

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Logáil Isteach / Cláraigh

In an attempt to correlate xanthomas with atherosclerosis, the characteristics of serum lipid and lipoprotein profiles are explored in xanthoma patients. Xanthomas are classified into 5 subtypes: xanthelasma, planar xanthoma, papulo-eruptive xanthoma, tuberous xanthoma and tendon xanthoma. The

[Xanthomatosis in patients with hyperlipoproteinemia].

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Logáil Isteach / Cláraigh

The clinical findings in 63 patients with xanthomas were analysed. Among them 5 had xanthelasmas and normal lipids. The largest group (37) consisted of females with xanthelasmas and heterozygotic form of hyperlipoproteinemia (HLP) type II. In this group HDL cholesterol values (1,5 mmol/l) were

Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4.

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Logáil Isteach / Cláraigh

Eruptive xanthomas in adults are usually indicative of chylomicronemia. Although diabetes mellitus is the most common secondary cause of chylomicronemia, which is designated as diabetic lipemia, the clinical characteristics of diabetes with regard to development of xanthomas are not well defined. In

Eruptive xanthoma associated with severe hypertriglyceridemia and poorly controlled type 1 diabetes mellitus.

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Logáil Isteach / Cláraigh

Eruptive xanthoma is characterized by yellowish skin papules encircled by an erythematous halo and associated with severe hypertriglyceridemia above 2,000 mg/dl. Hypertriglyceridemia can be caused by primary genetic mutations, secondary causes, such as uncontrolled diabetes, obesity, alcohol

Tuberous xanthomas in type IIA hyperlipoproteinemia.

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Logáil Isteach / Cláraigh

A 4-year-old obese girl with multiple yellowish, plaques and nodular lesions showed features of tuberous xanthomato in Type IIa hyperlipoproteinemia.

Late effects of childhood cancer treatment: severe hypertriglyceridaemia, central obesity, non alcoholic fatty liver disease and diabetes as complications of childhood total body irradiation.

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Logáil Isteach / Cláraigh

BACKGROUND Childhood cancer survivors may develop a number of endocrine complications linked to organ failure, such as hypogonadism, diabetes and growth hormone deficiency. However, increasing evidence now suggests that total body irradiation treatment, specifically, is linked with future risk of

Esophagogastric pathology in morbid obese patient: Preoperative diagnosis, influence in the selection of surgical technique.

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Logáil Isteach / Cláraigh

BACKGROUND Given the difficulty in accessing to the excluded stomach after gastric bypass and the increase in gastroesophageal reflux after sleeve gastrectomy, it is justified to perform a preoperative fibrogastroscopy.The influence of the fibrogastroscopy (FGS) findings in the therapeutic approach

An infant with milky blood : an unusual but treatable case of familial hyperlipidemia.

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Logáil Isteach / Cláraigh

Hyperlipidemia is increasing prevalent risk factor in children, concomitant with worldwide epidemic of obesity. Lipid disorder can occur either as primary event or secondary to an underlying disease. The primary dyslipidemia are associated with overproductions/or impaired removal of lipoprotein. The

Polygenic Hypercholesterolemia

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Logáil Isteach / Cláraigh

Coronary heart disease and stroke are the two leading causes of death worldwide and by the year 2030, they are projected to account for nearly 25% of deaths. Association of hypercholesterolemia with these two conditions makes it a major contributor to the global disease burden and cardiovascular

Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants

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Logáil Isteach / Cláraigh

Familial hypercholesterolemia (FH) is a genetic disease caused by a primary defect in the LDL-receptor gene. Distinct variants in the same gene characterize a compound heterozygote, but little is known about the phenotypes of the carriers. Therefore, herein, we describe the cascade screening of a

[Xanthelasma palpebrarum and dyslipoproteinaemia: two retrospective studies (author's transl)].

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Logáil Isteach / Cláraigh

In a retrospective study about 600 hyperlipoproteinaemic patients (390 men and 210 women, mean age 47), xanthelasma palpebrarum was infrequent (25 cases or 4.16 p. 100), since it was only at the third rank of chronic extra-vascular lipid deposits after arcus corneus and tendineous xanthomas. It was

Frequency and clinical and molecular aspects of familial hypercholesterolemia in an endocrinology unit in Ciudad Bolívar, Venezuela.

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Logáil Isteach / Cláraigh

OBJECTIVE To assess the frequency and the clinical, biochemical, and molecular aspects of familial hypercholesterolemia (FH) in subjects attending an endocrinology unit. METHODS An observational, descriptive study evaluating 3,140 subjects attending the endocrinology unit of Centro Médico Orinoco in

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels.

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Logáil Isteach / Cláraigh

The concordance of clinical and molecular genetic diagnoses of heterozygous familial hypercholesterolemia (FH) was studied in 65 subjects (10 propositi and 55 first-degree relatives) from 10 families with FH. Nine propositi were carriers of the FH-Helsinki deletion of the low density lipoprotein

[Clinical characteristics of primary hyperlipoproteinemia type IV. An analysis of 86 patients].

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Logáil Isteach / Cláraigh

In 86 patients with primary HLP type IV over 50% were detected at systematical examinations of non-commissioned officers so that the number of male patients is uncommonly very high, 80, (93%). The highest number of patients--66 (92,5%) belonged to the age group 41-60 years. The analysed group showed

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